### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GHR) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "GHR" "growth hormone receptor" "5" "p14-p12" "no" "NG_011688.1" "UD_132118246444" "" "http://www.LOVD.nl/GHR" "Growth Genetics Consortium " "1" "4263" "2690" "600946" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden (Nederland) with the help of the Growth Genetics Consortium." "" "g" "http://databases.lovd.nl/shared/refseq/GHR_codingDNA.html" "1" "" "A Growth Genetics Consortium gene variant database\r\n
\r\n
\r\n" "-1" "" "-1" "00001" "2008-06-01 00:00:00" "00006" "2017-03-10 17:16:19" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00008497" "GHR" "transcript variant 1" "001" "NM_000163.4" "" "NP_000154.1" "" "" "" "-192" "4371" "1917" "42423877" "42721980" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00808" "-" "Growth retardation with deafness and mental retardation due to IGF1 deficiency" "AR" "608747" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02017" "Laron" "Laron syndrome" "AR" "262500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02489" "GHIP" "hormomen, growth, insensitivity, partial (GHIP)" "AD" "604271" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04659" "ISS" "stature, short, idiopathic familial (ISS)" "" "300582" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2015-09-25 17:13:47" "05708" "FHCL1" "hypercholesterolemia, familial, type 1 (FHCL1)" "AD" "143890" "" "" "" "00006" "2020-02-26 12:52:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GHR" "00174" "GHR" "02017" "GHR" "02489" "GHR" "05708" ## Individuals ## Do not remove or alter this header ## ## Count = 71 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00079732" "" "" "" "1" "" "00006" "{PMID:Fang 2007:17405847}" "{FILE17405847fam.jpg:pedigree}" "F" "" "Austria" "" "0" "" "" "white" "" "00079741" "" "" "" "1" "" "00006" "{PMID:Godowski 1989:2813379}" "" "M" "yes" "(United States)" "" "0" "" "" "Jewish;Iraq" "" "00079742" "" "" "" "1" "" "00006" "{PMID:Godowski 1989:2813379}" "" "F" "yes" "United States" "" "0" "" "" "Jewish;Iraq" "" "00079743" "" "" "" "1" "" "00006" "{PMID:Godowski 1989:2813379}" "" "M" "" "United States" "" "0" "" "" "" "" "00079744" "" "" "" "1" "" "00006" "{PMID:Amselem 1991:1999489}" "" "F" "yes" "" "" "0" "" "" "" "" "00079745" "" "" "" "1" "" "00006" "{PMID:Amselem 1991:1999489}" "" "M" "yes" "" "" "0" "" "" "" "" "00079746" "" "" "" "1" "" "00006" "{PMID:Amselem 1991:1999489}" "" "" "yes" "" "" "0" "" "" "" "" "00079770" "" "" "" "1" "" "00006" "{PMID:Fang 2007:17405847}" "father and sister-2 heterozygous for C94S. mother and sister-1 heterozygous for H150Q." "F" "" "Austria" "" "0" "" "" "white" "" "00079775" "" "" "" "1" "" "00006" "{PMID:Goddard 1995:7565946}" "" "" "" "" "" "0" "" "" "" "" "00079776" "" "" "" "1" "" "00006" "{PMID:Kaji 1997:9360529}" "" "F" "no" "" "" "0" "" "" "" "" "00079777" "" "" "" "1" "" "00006" "{PMID:Pantel 2003:12679461}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00079778" "" "" "" "1" "" "00006" "{PMID:Goddard 1995:7565946}" "" "M" "" "" "" "0" "" "treated with GH, and had marginal growth in respons to therapy, suggesting that he may be partially insensitive to GH because of a dysfunctional GH receptor." "" "" "00079779" "" "" "" "1" "" "00006" "{PMID:Goddard 1995:7565946}" "patient inherited variant from mother, but was more severely affected suggesting he inherited an as yes undefined variant from his father" "M" "no" "" "" "0" "" "" "" "" "00079780" "" "" "" "1" "" "00006" "{PMID:Goddard 1995:7565946}" "" "M" "no" "" "" "0" "" "not responsive to GH" "" "" "00079782" "" "" "" "1" "" "00006" "{PMID:Sanchez 1998:9814495}" "The GHBP level of the younger brother was 105pmol/L and the older brother\'s GHBP level was 222pmol/L. The patient, his mother and younger brother also had a heterozygous polymorphism in exon 6." "M" "" "Cuba" "" "0" "" "" "white, Florida" "" "00079783" "" "" "" "1" "" "00006" "{PMID:Wojcik 1998:9851797}" "" "M" "no" "Spain" "" "0" "" "" "Hispanic" "" "00079784" "" "" "" "1" "" "00006" "{PMID:Wojcik 1998:9851797}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00079785" "" "" "" "1" "" "00006" "{PMID:Wojcik 1998:9851797}" "" "F" "no" "" "" "0" "" "" "white" "" "00079786" "" "" "" "1" "" "00006" "{PMID:Wojcik 1998:9851797}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00079787" "" "" "" "1" "" "00006" "{PMID:Berg 1993:8488849}" "" "F" "yes" "Spain" "" "0" "" "" "Spain" "" "00079788" "" "" "" "1" "" "00006" "{PMID:Berg 1993:8488849}" "" "M" "no" "United States" "" "0" "" "" "Afro American" "" "00079789" "" "" "" "1" "" "00006" "{PMID:Berg 1993:8488849}" "" "M" "no" "United States" "" "0" "" "" "Afro-American" "" "00079790" "" "" "" "1" "" "00006" "{PMID:Berg 1993:8488849}" "" "F" "no" "Spain" "" "0" "" "" "" "" "00079791" "" "" "" "1" "" "00006" "{PMID:Berg 1993:8488849}" "" "F" "no" "South Africa" "" "0" "" "" "" "" "00079792" "" "" "" "1" "" "00006" "{PMID:Berg 1993:8488849}" "" "M" "yes" "Brazil" "" "0" "" "" "" "" "00079793" "" "" "" "1" "" "00006" "{PMID:Berg 1993:8488849}" "" "F" "yes" "Ecuador" "" "0" "" "" "" "" "00079811" "" "" "" "1" "" "00006" "{PMID:Iida 1997:9467570}" "" "M" "" "Japan" "" "0" "" "" "" "" "00079812" "" "" "" "1" "" "00006" "{PMID:Iida 1997:9467570}" "" "F" "" "Japan" "" "0" "" "" "" "" "00079813" "" "" "" "1" "" "00006" "{PMID:Iida 1997:9467570}" "mother of 2 Japanese siblings (p1 and p2)." "F" "" "Japan" "" "0" "" "" "" "" "00079814" "" "" "" "1" "" "00006" "{PMID:Walker 1998:9661642}" "" "F" "no" "Viet Nam" "" "0" "" "" "" "" "00079815" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "" "India" "" "0" "" "" "" "" "00079816" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "no" "Germany" "" "0" "" "" "" "" "00079817" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "no" "Turkey" "" "0" "" "" "" "" "00079818" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "no" "Slovenia" "" "0" "" "" "" "" "00079819" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00079820" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00079821" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "" "Spain" "" "0" "" "" "" "" "00079822" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "" "Algeria" "" "0" "" "" "" "" "00079823" "" "" "" "1" "" "00006" "{PMID:Sobrier 1997:9024232}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00079824" "" "" "" "1" "" "00006" "{PMID:Sakurai 2002:12423626}" "" "M" "" "Japan" "" "0" "" "" "" "" "00079825" "" "" "" "1" "" "00006" "{PMID:Enberg 2000:10870033}" "" "M" "no" "Sweden" "" "0" "" "" "" "" "00079826" "" "" "" "1" "" "00006" "{PMID:Enberg 2000:10870033}" "" "M" "no" "Sweden" "" "0" "" "" "" "" "00079827" "" "" "" "1" "" "00006" "{PMID:Bonioli 2005:16213173}" "" "F" "" "Italy" "" "0" "" "" "" "" "00079828" "" "" "" "1" "" "00006" "{PMID:Bonioli 2005:16213173}" "" "" "" "Italy" "" "0" "" "" "" "" "00079829" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "" "" "00079830" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "Italy" "" "0" "" "" "" "" "00079831" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "Ecuador" "" "0" "" "" "" "" "00079832" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "" "" "00079833" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "China" "" "0" "" "" "" "" "00079834" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "" "" "00079835" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "Iran" "" "0" "" "" "" "" "00079836" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "Mediterranean" "" "00079837" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00079838" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "white" "" "00079839" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "Korea" "" "0" "" "" "" "" "00079840" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "" "" "00079841" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "" "" "00079842" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "" "" "00079843" "" "" "" "1" "" "00006" "{PMID:Savage 2006:16932322}" "" "" "" "" "" "0" "" "" "" "" "00079863" "" "" "" "39" "" "00006" "{PMID:Bonioli 2005:16213173}" "" "" "" "Italy" "" "0" "" "" "" "" "00079864" "" "" "" "34" "" "00006" "{PMID:Bonioli 2005:16213173}" "" "" "" "Italy" "" "0" "" "" "" "" "00079865" "" "" "" "1" "" "00006" "{PMID:Sanchez 1998:9814495}" "" "" "" "Cuba" "" "0" "" "" "white" "" "00079868" "" "" "" "1" "" "00006" "{PMID:Diniz 2008:19169479}" "" "M" "" "Brazil" "" "0" "" "" "" "" "00080753" "" "" "" "1" "" "01760" "" "" "F" "no" "(Brazil)" "" "0" "" "" "" "" "00293876" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293877" "" "" "" "128" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293878" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293879" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293880" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295646" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00305036" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 71 "{{individualid}}" "{{diseaseid}}" "00079732" "00808" "00079741" "02017" "00079742" "00808" "00079743" "02017" "00079744" "02017" "00079745" "02017" "00079746" "02017" "00079770" "00808" "00079775" "00198" "00079776" "00198" "00079777" "02017" "00079778" "00198" "00079779" "00198" "00079780" "04184" "00079782" "02017" "00079783" "02017" "00079784" "02017" "00079785" "02017" "00079786" "02017" "00079787" "02017" "00079788" "02017" "00079789" "02017" "00079790" "02017" "00079791" "02017" "00079792" "02017" "00079793" "02017" "00079811" "00198" "00079812" "00198" "00079813" "00198" "00079814" "02017" "00079815" "02017" "00079816" "02017" "00079817" "02017" "00079818" "02017" "00079819" "02017" "00079820" "02017" "00079821" "02017" "00079822" "02017" "00079823" "02017" "00079824" "04184" "00079825" "02017" "00079826" "02017" "00079827" "04184" "00079828" "04184" "00079829" "02017" "00079830" "02017" "00079831" "02017" "00079832" "02017" "00079833" "02017" "00079834" "02017" "00079835" "02017" "00079836" "02017" "00079837" "02017" "00079838" "02017" "00079839" "02017" "00079840" "02017" "00079841" "02017" "00079842" "02017" "00079843" "02017" "00079863" "00000" "00079864" "04184" "00079865" "00000" "00079868" "02017" "00080753" "04659" "00293876" "00198" "00293877" "00198" "00293878" "00198" "00293879" "00198" "00293880" "00198" "00295646" "00198" "00305036" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00174, 00198, 00808, 02017, 02489, 04184, 04659, 05708 ## Count = 65 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000059443" "00808" "00079732" "00006" "Isolated (sporadic)" "" "insulin-like growth factor I deficiency; bone age 1.2y delayed; no conspicuous features of Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059452" "02017" "00079741" "00006" "Familial, autosomal recessive" "" "Laron syndrome; LTD; slow physical and mental development, clinical features of GH deficiency (with high GH levels and low IGF-1 levels); no serum GH binding protein detected; no 125I labeled GH binding detected in liver microsomal membranes" "" "" "" "" "" "" "" "" "" "" "" "0000059453" "00808" "00079742" "00006" "Familial, autosomal recessive" "" "insulin-like growth factor I deficiency, Laron syndrome; typical features of GH deficiency at the age of 6. After 5 days of GH treatment there was no increase in the plasma IGF-1 level. At the age of 8.10y showed no serum GH binding protein activity" "" "" "" "" "" "" "" "" "" "" "" "0000059454" "02017" "00079743" "00006" "Isolated (sporadic)" "" "Laron syndrome, Laron-type dwarfism" "" "" "" "" "" "" "" "" "" "" "" "0000059455" "02017" "00079744" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059456" "02017" "00079745" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059457" "02017" "00079746" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059481" "00808" "00079770" "00006" "Isolated (sporadic)" "" "IGF-I level failed to increase after IGF generation test, no response to GH treatment; IGF-I therapy at 6.5y, height increased from -4.9SDS to -3.8SDS; insulin-like growth factor I deficiency; delayed bone age of 2.5y; Mild midfacial hypoplasia, depressed nasal bridge; Moderate frontal bossing, small hands" "" "" "" "" "" "" "" "" "" "" "" "0000059486" "00198" "00079775" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059487" "00198" "00079776" "00006" "Familial, autosomal recessive" "" "GH insensitivity syndrome; prominent forehead, small nose with retracted bridge; severe growth retardation; baseline GH level 21.6-59.4ng/ml, peak plasma GH of 89.5 in respons to Arginine, 79.5 in respons to glucagon, >90 in respons to l-dopa, 377 in respons to GHRH at 4.10y; administration of rhGH for 10 days (0.32U/kg/day)" "" "" "" "" "" "" "" "" "" "" "" "0000059488" "02017" "00079777" "00006" "Familial, autosomal recessive" "" "Laron syndrome; Pregnancy and delivery without complications; Frontal bossing, midface hypoplasia; Obesity, acromicria; clinical features GH deficiency; first months episodes of hypoglycemia; GHBP activity undetecable, basal GH plasma baseline 42ng/ml, +Arginine, 99ng/ml; IGF1/IGFBP-3 plasma levels low and resistant to 4d rGH administration" "" "" "" "" "" "" "" "" "" "" "" "0000059489" "00198" "00079778" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059490" "00198" "00079779" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059491" "04184" "00079780" "00006" "Familial, autosomal recessive" "" "short stature, idiopathic" "" "" "" "" "" "" "" "" "" "" "" "0000059493" "02017" "00079782" "00006" "Unknown" "" "Laron syndrome; physically normal, above average intelligence; no facial dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "0000059494" "02017" "00079783" "00006" "Familial, autosomal recessive" "" "Laron syndrome; growth hormone insensitivity; Basal plasma GH level of patient: 5-10ng/ml. His GH level was not suppressed by oral glucose administration and was further augmented by insulin induced hypoglycemia and arginine infusion." "" "" "" "" "" "" "" "" "" "" "" "0000059495" "02017" "00079784" "00006" "Familial, autosomal recessive" "" "Laron syndrome; History of hypoglycemia; 30m-small size, stubby appearance, history of hypoglycemia; high random GH levels during sleep, 68ng/ml; stimulation with l-DOPA and Arginine GH levels were 19.8 and 17.5ng/ml; 6y-overnight pooled GH level 16.9ng/ml, IGF-1 0.1U/ml" "" "" "" "" "" "" "" "" "" "" "" "0000059496" "02017" "00079785" "00006" "Familial, autosomal recessive" "" "Laron syndrome; 23m-height 7m, Somatomedin C level 0.48U/ml; 2.8y-unstimulated GH level 42.8ng/ml, Clonidine stimulated GH level 93.8ng/ml, Somatomedin level <0.1U/ml; GH binding assay, plasma GHBP levels 1.2% and 6.1%; (1993) GHBP level 143pmol/L; 18m IGF-I therapy slipped capital femoral epiphysis" "" "" "" "" "" "" "" "" "" "" "" "0000059497" "02017" "00079786" "00006" "Familial, autosomal recessive" "" "Laron syndrome; bone age delayed; prominent forehead; Blue sclerae, malar hypoplasia; bone age delayed. She had borderline hypoglycemia(41mg/dl) during fasting. Her baseline GH level of 41ng/ml rose to 130ng/ml upon Clonidine stimulation. The patient had very small hands and feet." "" "" "" "" "" "" "" "" "" "" "" "0000059498" "02017" "00079787" "00006" "Familial, autosomal recessive" "" "Laron syndrome; The patient\'s basal GH was 50. Her GHBP level at 18y was 2.4% of normal." "" "" "" "" "" "" "" "" "" "" "" "0000059499" "02017" "00079788" "00006" "Familial, autosomal recessive" "" "Laron syndrome; Basal IGF-I and GHBP activity were undetectable. There was no rise in IGF-I after 4 days of exogenous GH treatment. Random GH level of the patient was 69." "" "" "" "" "" "" "" "" "" "" "" "0000059500" "02017" "00079789" "00006" "Familial, autosomal recessive" "" "Laron syndrome; Basal IGF-I and GHBP activities were undetectable. There was no rise in IGF-I after 4 days of exogenous GH treatment. Random GH level of the patient was 22.8." "" "" "" "" "" "" "" "" "" "" "" "0000059501" "02017" "00079790" "00006" "Familial, autosomal recessive" "" "Laron syndrome; The patient\'s basal GH was 53. Her GHBP level at 21y was 3.4% of normal." "" "" "" "" "" "" "" "" "" "" "" "0000059502" "02017" "00079791" "00006" "Familial, autosomal recessive" "" "Laron syndrome; At the age of 5.5y her random GH level was 34. And her GHBP activitity at 5.5y was 5.2% of normal." "" "" "" "" "" "" "" "" "" "" "" "0000059503" "02017" "00079792" "00006" "Familial, autosomal recessive" "" "Laron syndrome; At 13 years the patient\'s GH level was 18. The IGF-1 level remained unchanged with human GH treatment. GHBP activity was not measured." "" "" "" "" "" "" "" "" "" "" "" "0000059504" "02017" "00079793" "00006" "Familial, autosomal recessive" "" "Laron syndrome; At the age of 27 months the patient\'s basal GH level was 160. Her IGFBP-3 activity was 58% of normal and GHBP activity was 30% of normal. rnThey had previously found that she does not carry the splice mutation that is prevalent in Ecuador." "" "" "" "" "" "" "" "" "" "" "" "0000059522" "00198" "00079811" "00006" "Familial" "" "prominent forehead, saddle nose; prominent forehead, saddle nose; basal GH 1.0-40.4µg/L; +Arginine peak GH (0.5g/kg,iv) 23.8µg/L; +Clonidine (0.15mg. orally) peak GH 47.4µg/L, +Levodopa (500mg, orally) peak GH 31.7µg/L; GH insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059523" "00198" "00079812" "00006" "Familial" "" "prominent forehead, saddle nose; basal GH 0.5-38.3µg/L; +Arginine (0.5g/kg,iv) peak GH 36.1µg/L; +Clonidine (0.15mg. orally) peak GH 48.1µg/L, + Levodopa (500mg, orally) peak GH 23.4µg/L; GH insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059524" "00198" "00079813" "00006" "Unknown" "" "growth hormone insensitivity; Prominent forehead, saddle nose" "" "" "" "" "" "" "" "" "" "" "" "0000059525" "02017" "00079814" "00006" "Familial, autosomal recessive" "" "Laron syndrome; Tanner stage 2(10.8y) and 4(13.8y) breast development; 15.2y-developing pubic hair, but not begun menstruating; 14.2y-pelvic ultrasound test prepubertal uterus of 3.5cm in length, ovarian volumes of 2.7 and 3.6ml" "" "" "" "" "" "" "" "" "" "" "" "0000059526" "02017" "00079815" "00006" "Unknown" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059527" "02017" "00079816" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059528" "02017" "00079817" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059529" "02017" "00079818" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059530" "02017" "00079819" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059531" "02017" "00079820" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059532" "02017" "00079821" "00006" "Unknown" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059533" "02017" "00079822" "00006" "Unknown" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059534" "02017" "00079823" "00006" "Familial, autosomal recessive" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059535" "04184" "00079824" "00006" "Unknown" "" "short stature; Growth Hormone Insensitivity; 9y-serum IGF-1 >30µg/l, serum GH level increased to 10.8µg/l by Arginine, to 9.1µg/L by Clonidine, to 2.0µg/l by Insulin.; basal IGFBP3 level 2.19µg/L, raised to 2.50µg/L after rgGH injections (6 days)" "" "" "" "" "" "" "" "" "" "" "" "0000059536" "02017" "00079825" "00006" "Familial, autosomal recessive" "" "Laron syndrome; moderate obesity; frontal bossing, low nasal bridge; Present, small genitalia; During a Argnine tolerance test GH levels increased from 54µg/L to 94µg/L. 12h sampling revealed a mean level GH of 37µg/L. GH was administered for 10 days(0.1µg/kgBW) and after that, another 3 months, but with a dose of 0.3µg/kgBW. At 5y IGF-I treatment started increasing doses from 40 to 120µg/kgBW twice daily, fir 4 years. Increase of height from -6SDS to -3.8SDS" "" "" "" "" "" "" "" "" "" "" "" "0000059537" "02017" "00079826" "00006" "Familial, autosomal recessive" "" "Laron syndrome; Phenotype identical to case 1; frontal bossing, small midface; small genitalia, moderate obesity; Limited work up was done for this patient, because his phenotype was almost identical as his brother, case 1. GH levels were between 2.1-30µg/L during sampling for 6h. At the start of IGF-I treatment, there was one clinical episode of Hypoglycaemia. The patient was tonsillectomised after 3y of treatment" "" "" "" "" "" "" "" "" "" "" "" "0000059538" "04184" "00079827" "00006" "Unknown" "" "short stature, idiopathic; Growth Hormone Insensitivity Syndrome; bone age was 13y at chronological age of 14.3y" "" "" "" "" "" "" "" "" "" "" "" "0000059539" "04184" "00079828" "00006" "Unknown" "" "short stature, idiopathic" "" "" "" "" "" "" "" "" "" "" "" "0000059540" "02017" "00079829" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059541" "02017" "00079830" "00006" "Unknown" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059542" "02017" "00079831" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059543" "02017" "00079832" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059544" "02017" "00079833" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059545" "02017" "00079834" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059546" "02017" "00079835" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059547" "02017" "00079836" "00006" "Unknown" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000059548" "02017" "00079837" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059549" "02017" "00079838" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059550" "02017" "00079839" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059551" "02017" "00079840" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059552" "02017" "00079841" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059553" "02017" "00079842" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059554" "02017" "00079843" "00006" "Unknown" "" "Laron syndrome; growth hormone insensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000059574" "00000" "00079863" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059575" "04184" "00079864" "00006" "Familial" "" "short stature, idiopathic" "" "" "" "" "" "" "" "" "" "" "" "0000059576" "00000" "00079865" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059579" "02017" "00079868" "00006" "Unknown" "" "Laron syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000061145" "04659" "00080753" "01760" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223210" "00198" "00295646" "01164" "Unknown" "" "Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 71 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000079806" "00079732" "1" "00006" "00006" "2009-07-01 13:50:23" "00002" "2009-09-06 10:55:40" "PCRdig;SEQ;Western" "RNA;DNA" "" "" "0000079815" "00079741" "1" "00006" "00006" "2008-09-19 15:40:07" "00002" "2009-08-21 17:15:48" "Southern" "DNA" "" "" "0000079816" "00079742" "1" "00006" "00006" "2008-09-19 15:40:07" "" "" "Southern" "DNA" "" "" "0000079817" "00079743" "1" "00006" "00006" "2008-09-19 15:40:07" "" "" "Southern" "DNA" "" "" "0000079818" "00079744" "1" "00006" "00006" "2008-09-19 15:40:07" "" "" "SEQ;Southern" "DNA" "" "" "0000079819" "00079745" "1" "00006" "00006" "2008-09-19 15:40:07" "" "" "SEQ;Southern" "DNA" "" "" "0000079820" "00079746" "1" "00006" "00006" "2008-09-19 15:40:07" "" "" "SEQ;Southern" "DNA" "" "" "0000079844" "00079770" "1" "00006" "00006" "2009-07-01 13:22:00" "00002" "2009-07-01 15:53:03" "PCRdig;SEQ;Western" "RNA;DNA" "" "" "0000079849" "00079775" "1" "00006" "00006" "2009-07-09 14:12:35" "" "" "SEQ;SSCA" "RNA;DNA" "" "" "0000079850" "00079776" "1" "00006" "00006" "2009-07-08 17:16:43" "00002" "2009-08-21 17:17:34" "PCRdig;SEQ" "RNA;DNA" "" "" "0000079851" "00079777" "1" "00006" "00006" "2009-07-09 11:49:49" "00002" "2009-08-21 17:20:32" "PCRdig;PCRm;SEQ" "RNA;DNA" "" "" "0000079852" "00079778" "1" "00006" "00006" "2009-07-09 13:47:57" "" "" "SEQ;SSCA" "RNA;DNA" "" "" "0000079853" "00079779" "1" "00006" "00006" "2009-07-09 13:47:57" "" "" "SEQ;SSCA" "RNA;DNA" "" "" "0000079854" "00079780" "1" "00006" "00006" "2009-07-09 14:44:08" "" "" "SEQ;SSCA" "RNA;DNA" "" "" "0000079856" "00079782" "1" "00006" "00006" "2009-07-10 12:34:49" "00006" "2009-07-10 12:35:53" "PCRdig;HD;SEQ;SSCA" "DNA" "" "" "0000079857" "00079783" "1" "00006" "00006" "2009-07-14 11:35:18" "00006" "2009-07-14 18:07:07" "DGGE;PCR;SEQ" "DNA" "" "" "0000079858" "00079784" "1" "00006" "00006" "2009-07-14 12:00:01" "00002" "2009-08-21 17:22:22" "DGGE;PCR;SEQ" "DNA" "" "" "0000079859" "00079785" "1" "00006" "00006" "2009-07-14 12:32:59" "00002" "2009-08-21 17:24:58" "DGGE;PCR;SEQ" "DNA" "" "" "0000079860" "00079786" "1" "00006" "00006" "2009-07-14 12:49:56" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079861" "00079787" "1" "00006" "00006" "2009-07-15 15:07:55" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079862" "00079788" "1" "00006" "00006" "2009-07-15 15:30:01" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079863" "00079789" "1" "00006" "00006" "2009-07-15 15:39:13" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079864" "00079790" "1" "00006" "00006" "2009-07-15 16:21:42" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079865" "00079791" "1" "00006" "00006" "2009-07-15 16:57:28" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079866" "00079792" "1" "00006" "00006" "2009-07-16 10:23:12" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079867" "00079793" "1" "00006" "00006" "2009-07-16 10:42:04" "00006" "2009-07-16 10:42:59" "DGGE" "DNA" "" "" "0000079885" "00079811" "1" "00006" "00006" "2009-07-21 12:03:46" "00002" "2009-08-21 17:28:28" "PCR;SEQ" "DNA" "" "" "0000079886" "00079812" "1" "00006" "00006" "2009-07-09 13:47:57" "00002" "2009-08-21 17:31:26" "RT-PCR;PCR;SEQ" "RNA;DNA" "" "" "0000079887" "00079813" "1" "00006" "00006" "2009-07-09 13:47:57" "" "" "RT-PCR;PCR;SEQ" "RNA;DNA" "" "" "0000079888" "00079814" "1" "00006" "00006" "2009-07-21 17:06:37" "00002" "2009-08-21 17:33:07" "SEQ" "DNA" "" "" "0000079889" "00079815" "1" "00006" "00006" "2009-07-22 10:56:19" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079890" "00079816" "1" "00006" "00006" "2009-07-22 11:22:23" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079891" "00079817" "1" "00006" "00006" "2009-07-22 11:34:06" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079892" "00079818" "1" "00006" "00006" "2009-07-22 11:41:19" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079893" "00079819" "1" "00006" "00006" "2009-07-22 11:50:48" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079894" "00079820" "1" "00006" "00006" "2009-07-22 11:53:48" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079895" "00079821" "1" "00006" "00006" "2009-07-22 11:58:43" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079896" "00079822" "1" "00006" "00006" "2009-07-22 12:02:12" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079897" "00079823" "1" "00006" "00006" "2009-07-22 13:15:33" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000079898" "00079824" "1" "00006" "00006" "2009-07-23 16:17:04" "" "" "PCR;SEQ" "DNA" "" "" "0000079899" "00079825" "1" "00006" "00006" "2009-07-23 17:07:32" "00002" "2009-08-21 17:34:40" "PCR;SEQ" "DNA" "" "" "0000079900" "00079826" "1" "00006" "00006" "2009-07-24 10:45:43" "00002" "2009-08-21 17:35:12" "PCR;SEQ" "DNA" "" "" "0000079901" "00079827" "1" "00006" "00006" "2009-08-21 17:08:44" "" "" "PCR;SEQ" "DNA" "" "" "0000079902" "00079828" "1" "00006" "00006" "2009-07-09 13:47:57" "" "" "PCR;SEQ" "DNA" "" "" "0000079903" "00079829" "1" "00006" "00006" "2009-07-30 14:23:37" "" "" "SEQ" "DNA" "" "" "0000079904" "00079830" "1" "00006" "00006" "2009-07-30 14:28:39" "" "" "SEQ" "DNA" "" "" "0000079905" "00079831" "1" "00006" "00006" "2009-07-30 14:34:20" "" "" "SEQ" "DNA" "" "" "0000079906" "00079832" "1" "00006" "00006" "2009-07-30 14:41:23" "" "" "SEQ" "DNA" "" "" "0000079907" "00079833" "1" "00006" "00006" "2009-07-30 14:47:15" "" "" "SEQ" "DNA" "" "" "0000079908" "00079834" "1" "00006" "00006" "2009-07-30 14:50:57" "" "" "SEQ" "DNA" "" "" "0000079909" "00079835" "1" "00006" "00006" "2009-07-30 14:55:29" "" "" "SEQ" "DNA" "" "" "0000079910" "00079836" "1" "00006" "00006" "2009-07-30 15:00:44" "" "" "SEQ" "DNA" "" "" "0000079911" "00079837" "1" "00006" "00006" "2009-07-30 15:09:29" "" "" "SEQ" "DNA" "" "" "0000079912" "00079838" "1" "00006" "00006" "2009-07-30 15:15:16" "" "" "SEQ" "DNA" "" "" "0000079913" "00079839" "1" "00006" "00006" "2009-07-30 15:20:30" "" "" "SEQ" "DNA" "" "" "0000079914" "00079840" "1" "00006" "00006" "2009-07-30 15:25:43" "" "" "SEQ" "DNA" "" "" "0000079915" "00079841" "1" "00006" "00006" "2009-07-30 15:29:48" "" "" "SEQ" "DNA" "" "" "0000079916" "00079842" "1" "00006" "00006" "2009-07-30 15:33:08" "" "" "SEQ" "DNA" "" "" "0000079917" "00079843" "1" "00006" "00006" "2009-07-30 15:37:08" "" "" "SEQ" "DNA" "" "" "0000079937" "00079863" "1" "00006" "00006" "2009-08-21 17:08:44" "" "" "PCR;SSCA" "DNA" "" "" "0000079938" "00079864" "1" "00006" "00006" "2009-08-21 17:08:44" "" "" "PCR;SSCA" "DNA" "" "" "0000079939" "00079865" "1" "00006" "00006" "2009-08-21 17:08:44" "" "" "PCRdig;HD;SEQ;SSCA" "DNA" "" "" "0000079942" "00079868" "1" "00006" "00006" "2009-09-06 10:17:26" "" "" "SEQ" "DNA" "" "" "0000080866" "00080753" "1" "01760" "01760" "2016-09-09 21:32:25" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000295044" "00293876" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295045" "00293877" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295046" "00293878" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295047" "00293879" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295048" "00293880" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296818" "00295646" "1" "01164" "01164" "2020-03-22 12:43:17" "" "" "SEQ-NG-S" "DNA" "" "" "0000306165" "00305036" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000079806" "GHR" "0000079815" "GHR" "0000079816" "GHR" "0000079817" "GHR" "0000079818" "GHR" "0000079819" "GHR" "0000079820" "GHR" "0000079844" "GHR" "0000079849" "GHR" "0000079850" "GHR" "0000079851" "GHR" "0000079852" "GHR" "0000079853" "GHR" "0000079854" "GHR" "0000079856" "GHR" "0000079857" "GHR" "0000079858" "GHR" "0000079859" "GHR" "0000079860" "GHR" "0000079861" "GHR" "0000079862" "GHR" "0000079863" "GHR" "0000079864" "GHR" "0000079865" "GHR" "0000079866" "GHR" "0000079867" "GHR" "0000079885" "GHR" "0000079886" "GHR" "0000079887" "GHR" "0000079888" "GHR" "0000079889" "GHR" "0000079890" "GHR" "0000079891" "GHR" "0000079892" "GHR" "0000079893" "GHR" "0000079894" "GHR" "0000079895" "GHR" "0000079896" "GHR" "0000079897" "GHR" "0000079898" "GHR" "0000079899" "GHR" "0000079900" "GHR" "0000079901" "GHR" "0000079902" "GHR" "0000079903" "GHR" "0000079904" "GHR" "0000079905" "GHR" "0000079906" "GHR" "0000079907" "GHR" "0000079908" "GHR" "0000079909" "GHR" "0000079910" "GHR" "0000079911" "GHR" "0000079912" "GHR" "0000079913" "GHR" "0000079914" "GHR" "0000079915" "GHR" "0000079916" "GHR" "0000079917" "GHR" "0000079937" "GHR" "0000079938" "GHR" "0000079939" "GHR" "0000079942" "GHR" "0000080866" "GHR" "0000080866" "SHOX" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 223 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000128589" "10" "90" "5" "42695087" "42695087" "subst" "0" "00006" "GHR_000020" "g.42695087G>C" "" "{PMID:Fang 2007:17405847}" "" "Cys94Ser" "de novo, in patient (paternal allele)" "De novo" "" "" "0" "" "" "g.42694985G>C" "" "pathogenic" "" "0000128598" "1" "90" "5" "0" "0" "" "0" "00006" "GHR_000003" "g.?" "" "{PMID:Godowski 1989:02813379}, {OMIM600946:0001}" "" "non-consecutive deletion exons 2,3 and 5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000128599" "1" "90" "5" "0" "0" "" "0" "00006" "GHR_000003" "g.?" "" "{PMID:Godowski 1989:02813379}, {OMIM600946:0001}" "" "non-consecutive deletion exons 2,3 and 5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000128600" "0" "50" "5" "0" "0" "ins" "0" "00006" "GHR_000061" "g.?" "" "{PMID:Godowski 1989:02813379}" "" "200bp insertion" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000128601" "1" "90" "5" "42689036" "42689036" "subst" "1.21892E-5" "00006" "GHR_000010" "g.42689036C>T" "" "{PMID:Amselem 1991:01999489}, {OMIM600946:0003}" "" "R43X" "recurrent variant" "Germline" "" "" "0" "" "" "g.42688934C>T" "" "pathogenic" "" "0000128602" "1" "90" "5" "42689023" "42689023" "subst" "1.21891E-5" "00006" "GHR_000007" "g.42689023C>A" "" "{PMID:Amselem 1991:01999489}, {OMIM600946:0004}" "" "C38X" "" "Germline" "" "" "0" "" "" "g.42688921C>A" "" "pathogenic" "" "0000128603" "1" "90" "5" "42689036" "42689036" "subst" "1.21892E-5" "00006" "GHR_000010" "g.42689036C>T" "" "{PMID:Amselem 1991:01999489}, {OMIM600946:0003}" "" "R43X" "recurrent variant" "Germline" "" "" "0" "" "" "g.42688934C>T" "" "pathogenic" "" "0000128627" "10" "90" "5" "42695087" "42695087" "subst" "0" "00006" "GHR_000020" "g.42695087G>C" "" "{PMID:Fang 2007:17405847}" "" "Cys94Ser" "de novo, in patient (paternal allele)" "De novo" "" "" "0" "" "" "g.42694985G>C" "" "pathogenic" "" "0000128632" "1" "90" "5" "42711416" "42711416" "subst" "2.03135E-5" "00006" "GHR_000053" "g.42711416G>C" "" "{PMID:Goddard 1995:07565946}" "" "(Glu224Asp)" "" "Germline" "" "" "0" "" "" "g.42711314G>C" "" "pathogenic" "" "0000128633" "11" "70" "5" "42718590" "42718590" "del" "0" "00006" "GHR_000067" "g.42718590del" "" "{PMID:Kaji 1997:9360529}" "BsmI+" "c.981delC" "variant also in father and brother" "Germline" "" "" "0" "" "" "g.42718488del" "" "likely pathogenic" "" "0000128634" "11" "30" "5" "42688993" "42688993" "subst" "0" "00006" "GHR_000004" "g.42688993C>A" "" "{PMID:Pantel 2003:12679461}" "MaeIII+" "c.C38X" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.42688891C>A" "" "likely benign" "" "0000128635" "1" "90" "5" "42711376" "42711376" "subst" "0.00126357" "00006" "GHR_000048" "g.42711376G>A" "" "{PMID:Goddard 1995:07565946}" "" "Arg211His" "" "Germline" "" "" "0" "" "" "g.42711274G>A" "" "pathogenic" "" "0000128636" "21" "90" "5" "42695172" "42695172" "subst" "0" "00006" "GHR_000024" "g.42695172T>A" "" "{PMID:Goddard 1995:07565946}" "" "Cys122stop" "most likely a null mutation, with no functional protein being produced" "Germline" "" "" "0" "" "" "g.42695070T>A" "" "pathogenic" "" "0000128637" "11" "90" "5" "42689039" "42689039" "subst" "1.62529E-5" "00006" "GHR_000011" "g.42689039G>A" "" "{PMID:Goddard 1995:07565946}, {OMIM600946:0006}" "" "Glu44Lys" "" "Germline" "" "" "0" "" "" "g.42688937G>A" "" "pathogenic" "" "0000128639" "11" "10" "5" "42700044" "42700044" "subst" "0.717608" "00006" "GHR_000040" "g.42700044A>G" "" "{PMID:Sanchez 1998:09814495}" "HSP92II+" "" "" "Germline" "" "rs6179" "0" "" "" "g.42699942A>G" "" "benign" "" "0000128640" "10" "90" "5" "42700001" "42700001" "subst" "0" "00006" "GHR_000036" "g.42700001A>C" "" "{PMID:Wojcik 1998:09851797}" "BstXI+" "A>C Q154P" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42699899A>C" "" "pathogenic" "" "0000128641" "10" "90" "5" "42699994" "42699994" "subst" "1.22124E-5" "00006" "GHR_000033" "g.42699994G>C" "" "{PMID:Wojcik 1998:09851797}" "EcoRV-" "G>C D152H" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42699892G>C" "" "pathogenic" "" "0000128642" "0" "90" "5" "42699998" "42699998" "subst" "0" "00006" "GHR_000035" "g.42699998T>C" "" "{PMID:Wojcik 1998:09851797}" "EcoRV-" "T>C I153T" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42699896T>C" "" "pathogenic" "" "0000128643" "10" "90" "5" "42700004" "42700004" "subst" "0" "00006" "GHR_000037" "g.42700004T>G" "" "{PMID:Wojcik 1998:09851797}" "Styl+" "T>G V155G" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42699902T>G" "" "pathogenic" "" "0000128644" "10" "90" "5" "42689047" "42689048" "del" "0" "00006" "GHR_000012" "g.42689047_42689048del" "" "{PMID:Berg 1993:08488849}" "-" "46delTT" "" "Germline" "" "" "0" "" "" "g.42688945_42688946del" "" "pathogenic" "" "0000128645" "10" "90" "5" "42711393" "42711393" "subst" "2.03133E-5" "00006" "GHR_000049" "g.42711393C>T" "" "{PMID:Berg 1993:08488849}" "-" "T>C R217X" "hemizygosity not excluded (no parental DNA)" "Germline" "" "" "0" "" "" "g.42711291C>T" "" "pathogenic" "" "0000128646" "10" "90" "5" "42711393" "42711393" "subst" "2.03133E-5" "00006" "GHR_000049" "g.42711393C>T" "" "{PMID:Berg 1993:08488849}" "-" "T>C R217X" "hemizygosity not excluded (no parental DNA)" "Germline" "" "" "0" "" "" "g.42711291C>T" "" "pathogenic" "" "0000128647" "0" "90" "5" "42689047" "42689048" "del" "0" "00006" "GHR_000012" "g.42689047_42689048del" "" "{PMID:Berg 1993:08488849}" "-" "46delTT" "" "Germline" "" "" "0" "" "" "g.42688945_42688946del" "" "pathogenic" "" "0000128648" "10" "90" "5" "42711433" "42711434" "del" "0" "00006" "GHR_000055" "g.42711433_42711434del" "" "{PMID:Berg 1993:08488849}" "-" "230delTA" "hemizygosity not excluded (no parental DNA)" "Germline" "" "" "0" "" "" "g.42711331_42711332del" "" "pathogenic" "" "0000128649" "10" "90" "5" "42711308" "42711308" "subst" "4.06471E-6" "00006" "GHR_000045" "g.42711308G>T" "" "{PMID:Berg 1993:08488849}" "-" "189-1G>T" "variant at consensus acceptor splice site intron 6; alters absolutely conserved position in the consensus sequence, the second G in Chambon\'s GT-AG rule" "Germline" "" "" "0" "" "" "g.42711206G>T" "" "pathogenic" "" "0000128650" "10" "90" "5" "42689036" "42689036" "subst" "1.21892E-5" "00006" "GHR_000010" "g.42689036C>T" "" "{PMID:Berg 1993:08488849}, {OMIM600946:0003}" "-" "R43X" "recurrent variant, different haplotype" "Germline" "" "" "0" "" "" "g.42688934C>T" "" "pathogenic" "" "0000128668" "21" "90" "5" "42718224" "42718224" "subst" "0" "00006" "GHR_000060" "g.42718224G>A" "" "{PMID:Iida 1997:09467570}" "MaeIII-" "IVS9+1G>A" "" "Germline" "" "" "0" "" "" "g.42718122G>A" "" "pathogenic" "" "0000128669" "21" "90" "5" "42718224" "42718224" "subst" "0" "00006" "GHR_000060" "g.42718224G>A" "" "{PMID:Iida 1997:09467570}" "MaeIII-" "IVS9+1G>A" "" "Germline" "" "" "0" "" "" "g.42718122G>A" "" "pathogenic" "" "0000128670" "1" "90" "5" "42718224" "42718224" "subst" "0" "00006" "GHR_000060" "g.42718224G>A" "" "{PMID:Iida 1997:09467570}" "MaeIII-" "IVS9+1G>A" "" "Germline" "" "" "0" "" "" "g.42718122G>A" "" "pathogenic" "" "0000128671" "10" "90" "5" "42699932" "42699932" "subst" "0" "00006" "GHR_000027" "g.42699932C>A" "" "{PMID:Walker 1998:09661642}" "-" "P131Q" "parents and 3 siblings (2 girls and a boy) heterozygous for this variant" "Germline" "" "" "0" "" "" "g.42699830C>A" "" "pathogenic" "" "0000128672" "10" "90" "5" "42689102" "42689102" "subst" "0" "00006" "GHR_000015" "g.42689102C>T" "" "{PMID:Sobrier 1997:09024232}" "-" "197C>T Q65X" "" "Germline" "" "" "0" "" "" "g.42689000C>T" "" "pathogenic" "" "0000128673" "1" "90" "5" "42689057" "42689057" "subst" "0" "00006" "GHR_000013" "g.42689057T>C" "" "{PMID:Sobrier 1997:09024232}" "-" "W50R" "" "Germline" "" "" "0" "" "" "g.42688955T>C" "" "pathogenic" "" "0000128674" "10" "90" "5" "42700011" "42700011" "subst" "0" "00006" "GHR_000038" "g.42700011G>A" "" "{PMID:Sobrier 1997:09024232}" "-" "W157X" "" "Germline" "" "" "0" "" "" "g.42699909G>A" "" "pathogenic" "" "0000128675" "10" "90" "5" "42689017" "42689017" "del" "0" "00006" "GHR_000005" "g.42689017del" "" "{PMID:Sobrier 1997:09024232}" "-" "-" "" "Germline" "" "" "0" "" "" "g.42688915del" "" "pathogenic" "" "0000128676" "10" "90" "5" "42566047" "42566047" "subst" "0" "00006" "GHR_000001" "g.42566047G>A" "" "{PMID:Sobrier 1997:09024232}" "-" "" "" "Germline" "" "" "0" "" "" "g.42565945G>A" "" "pathogenic" "" "0000128677" "10" "90" "5" "42566047" "42566047" "subst" "0" "00006" "GHR_000001" "g.42566047G>A" "" "{PMID:Sobrier 1997:09024232}" "-" "" "" "Germline" "" "" "0" "" "" "g.42565945G>A" "" "pathogenic" "" "0000128678" "10" "90" "5" "42711413" "42711413" "subst" "4.0624E-6" "00006" "GHR_000051" "g.42711413C>T" "" "{PMID:Sobrier 1997:09024232}" "-" "G223G" "" "Germline" "" "" "0" "" "" "g.42711311C>T" "" "pathogenic" "" "0000128679" "10" "90" "5" "42689021" "42689021" "subst" "0" "00006" "GHR_000006" "g.42689021T>A" "" "{PMID:Sobrier 1997:09024232}" "-" "C38S" "" "Germline" "" "" "0" "" "" "g.42688919T>A" "" "pathogenic" "" "0000128680" "10" "90" "5" "42689028" "42689028" "subst" "0" "00006" "GHR_000008" "g.42689028C>T" "" "{PMID:Sobrier 1997:09024232}" "-" "S40L" "" "Germline" "" "" "0" "" "" "g.42688926C>T" "" "pathogenic" "" "0000128681" "10" "10" "5" "42700044" "42700044" "subst" "0.717608" "00006" "GHR_000040" "g.42700044A>G" "" "{PMID:Sakurai 2002:12423626}" "" "G186G" "" "Germline" "" "rs6179" "0" "" "" "g.42699942A>G" "" "benign" "" "0000128682" "11" "90" "5" "42711474" "42711474" "subst" "0" "00006" "GHR_000056" "g.42711474G>A" "?" "{PMID:Enberg 2000:10870033}" "-" "D244N" "" "Germline" "" "" "0" "" "" "g.42711372G>A" "" "pathogenic" "" "0000128683" "11" "90" "5" "42711474" "42711474" "subst" "0" "00006" "GHR_000056" "g.42711474G>A" "?" "{PMID:Enberg 2000:10870033}" "-" "D244N" "" "Germline" "" "" "0" "" "" "g.42711372G>A" "" "pathogenic" "" "0000128684" "1" "70" "5" "42695088" "42695088" "subst" "0" "00006" "GHR_000021" "g.42695088T>C" "1/74" "{PMID:Bonioli 2005:16213173}" "" "T>C C94C" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.42694986T>C" "" "likely pathogenic" "" "0000128685" "1" "70" "5" "42699971" "42699971" "subst" "0" "00006" "GHR_000031" "g.42699971T>C" "1/74" "{PMID:Bonioli 2005:16213173}" "-" "T>C V144A" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.42699869T>C" "" "likely pathogenic" "" "0000128686" "0" "90" "5" "42695099" "42695099" "subst" "0" "00006" "GHR_000023" "g.42695099C>A" "-" "{PMID:Savage 2006:16932322}" "-" "Cys83X" "Reference to: Tiulpakov A (2005)" "Germline" "" "" "0" "" "" "g.42694997C>A" "" "pathogenic" "" "0000128687" "0" "90" "5" "42699962" "42699962" "subst" "4.06888E-6" "00006" "GHR_000028" "g.42699962T>A" "-" "{PMID:Savage 2006:16932322}" "-" "Leu141X" "Reference to: Shevah O (2003)." "Germline" "" "" "0" "" "" "g.42699860T>A" "" "pathogenic" "" "0000128688" "0" "90" "5" "42700087" "42700087" "subst" "4.07784E-6" "00006" "GHR_000044" "g.42700087G>T" "-" "{PMID:Savage 2006:16932322}" "-" "Glu183X" "Reference to: Berg Ma (1994)" "Germline" "" "" "0" "" "" "g.42699985G>T" "" "pathogenic" "" "0000128689" "0" "90" "5" "42711414" "42711414" "subst" "0" "00006" "GHR_000052" "g.42711414G>T" "-" "{PMID:Savage 2006:16932322}" "-" "Glu224X" "Reference to: Kaji H (1997)." "Germline" "" "" "0" "" "" "g.42711312G>T" "" "pathogenic" "" "0000128690" "0" "90" "5" "42689033" "42689033" "subst" "4.06296E-6" "00006" "GHR_000009" "g.42689033G>A" "-" "{PMID:Savage 2006:16932322}" "-" "Glu42Lys" "Reference to: Chen X (2003)." "Germline" "" "" "0" "" "" "g.42688931G>A" "" "pathogenic" "" "0000128691" "0" "90" "5" "42689039" "42689039" "subst" "1.62529E-5" "00006" "GHR_000011" "g.42689039G>A" "-" "{PMID:Savage 2006:16932322}" "-" "Glu44Lys" "" "Germline" "" "" "0" "" "" "g.42688937G>A" "" "pathogenic" "" "0000128692" "0" "90" "5" "42695062" "42695062" "subst" "0" "00006" "GHR_000019" "g.42695062T>G" "-" "{PMID:Savage 2006:16932322}" "-" "Tyr86Asp" "Reference to: Shevah O (2004)." "Germline" "" "" "0" "" "" "g.42694960T>G" "" "pathogenic" "" "0000128693" "0" "90" "5" "42695093" "42695093" "subst" "0" "00006" "GHR_000022" "g.42695093T>C" "-" "{PMID:Savage 2006:16932322}" "-" "Phe96Ser" "Reference to: Amselem S (1989)." "Germline" "" "" "0" "" "" "g.42694991T>C" "" "pathogenic" "" "0000128694" "0" "90" "5" "42699995" "42699995" "subst" "0" "00006" "GHR_000034" "g.42699995A>G" "-" "{PMID:Savage 2006:16932322}" "-" "Asp152Gly" "Reference to: Yang C (2004)." "Germline" "" "" "0" "" "" "g.42699893A>G" "" "pathogenic" "" "0000128695" "0" "90" "5" "42699998" "42699998" "subst" "0" "00006" "GHR_000035" "g.42699998T>C" "-" "{PMID:Savage 2006:16932322}" "-" "Ile153Thr" "Reference to: Wojcik J (1998)." "Germline" "" "" "0" "" "" "g.42699896T>C" "" "pathogenic" "" "0000128696" "0" "90" "5" "42700073" "42700073" "subst" "1.222E-5" "00006" "GHR_000041" "g.42700073A>C" "-" "{PMID:Savage 2006:16932322}" "-" "Tyr178Ser" "Reference to: Oh PS (1999)." "Germline" "" "" "0" "" "" "g.42699971A>C" "" "pathogenic" "" "0000128697" "0" "90" "5" "42711408" "42711408" "subst" "0.000280308" "00006" "GHR_000050" "g.42711408T>C" "-" "{PMID:Savage 2006:16932322}" "-" "Tyr222His" "Reference to: Tauber MT (1998)" "Germline" "" "" "0" "" "" "g.42711306T>C" "" "pathogenic" "" "0000128698" "0" "90" "5" "42711416" "42711416" "subst" "2.03135E-5" "00006" "GHR_000053" "g.42711416G>C" "-" "{PMID:Savage 2006:16932322}" "-" "Glu224Asp" "Reference to: Goddard AD (1995)." "Germline" "" "" "0" "" "" "g.42711314G>C" "" "pathogenic" "" "0000128699" "0" "90" "5" "42711421" "42711421" "subst" "0" "00006" "GHR_000054" "g.42711421G>T" "-" "{PMID:Savage 2006:16932322}" "-" "Ser226Ile" "Reference to: Jorge AA (2004)." "Germline" "" "" "0" "" "" "g.42711319G>T" "" "pathogenic" "" "0000128700" "0" "90" "5" "42719095" "42719095" "subst" "4.10226E-6" "00006" "GHR_000064" "g.42719095G>A" "-" "{PMID:Savage 2006:16932322}" "-" "Ala478Thr" "Reference to: Goddard AD (1997) and Saenger P (1999)." "Germline" "" "" "0" "" "" "g.42718993G>A" "" "pathogenic" "" "0000128720" "0" "10" "5" "42700044" "42700044" "subst" "0.717608" "00006" "GHR_000040" "g.42700044A>G" "39/100" "{PMID:Bonioli 2005:16213173}" "-" "G168G" "incl. 16 homozygotes" "Germline" "" "rs6179" "0" "" "" "g.42699942A>G" "" "benign" "" "0000128721" "0" "10" "5" "42700044" "42700044" "subst" "0.717608" "00006" "GHR_000040" "g.42700044A>G" "34/74" "{PMID:Bonioli 2005:16213173}" "-" "G168G" "incl. 12 homozygotes" "Germline" "" "rs6179" "0" "" "" "g.42699942A>G" "" "benign" "" "0000128722" "0" "10" "5" "42700044" "42700044" "subst" "0.717608" "00006" "GHR_000040" "g.42700044A>G" "14/42" "{PMID:Sanchez 1998:09814495}" "HSP92II+" "" "incl. 3 homozygotes; no association with height" "Germline" "" "rs6179" "0" "" "" "g.42699942A>G" "" "benign" "" "0000128725" "10" "90" "5" "42695090" "42695090" "dup" "0" "00006" "GHR_000070" "g.42695090dup" "" "{PMID:Diniz 2008:19169479}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.42694988dup" "" "pathogenic" "" "0000128744" "20" "90" "5" "42699990" "42699990" "subst" "4.07063E-6" "00006" "GHR_000032" "g.42699990T>G" "" "{PMID:Fang 2007:17405847}" "" "His150Gln" "de novo, in patient (maternal allele)" "De novo" "" "" "0" "" "" "g.42699888T>G" "" "pathogenic" "" "0000128749" "2" "90" "5" "0" "0" "del" "0" "00006" "GHR_000003" "g.?" "" "{PMID:Godowski 1989:02813379}, {OMIM600946:0001}" "" "non-consecutive deletion exons 2,3 and 5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000128750" "2" "90" "5" "0" "0" "del" "0" "00006" "GHR_000003" "g.?" "" "{PMID:Godowski 1989:02813379}, {OMIM600946:0001}" "" "non-consecutive deletion exons 2,3 and 5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000128751" "2" "90" "5" "42689036" "42689036" "subst" "1.21892E-5" "00006" "GHR_000010" "g.42689036C>T" "" "{PMID:Amselem 1991:01999489}, {OMIM600946:0003}" "" "R43X" "recurrent variant" "Germline" "" "" "0" "" "" "g.42688934C>T" "" "pathogenic" "" "0000128752" "2" "90" "5" "42689023" "42689023" "subst" "1.21891E-5" "00006" "GHR_000007" "g.42689023C>A" "" "{PMID:Amselem 1991:01999489}, {OMIM600946:0004}" "" "C38X" "" "Germline" "" "" "0" "" "" "g.42688921C>A" "" "pathogenic" "" "0000128753" "2" "90" "5" "42689036" "42689036" "subst" "1.21892E-5" "00006" "GHR_000010" "g.42689036C>T" "" "{PMID:Amselem 1991:01999489}, {OMIM600946:0003}" "" "R43X" "recurrent variant" "Germline" "" "" "0" "" "" "g.42688934C>T" "" "pathogenic" "" "0000128768" "10" "90" "5" "42699990" "42699990" "subst" "4.07063E-6" "00006" "GHR_000032" "g.42699990T>G" "" "{PMID:Fang 2007:17405847}" "" "His150Gln" "de novo, in patient (maternal allele)" "De novo" "" "" "0" "" "" "g.42699888T>G" "" "pathogenic" "" "0000128770" "21" "70" "5" "42711414" "42711414" "subst" "0" "00006" "GHR_000052" "g.42711414G>T" "" "{PMID:Kaji 1997:9360529}" "MaeI+" "c.724G>T" "" "Germline" "" "" "0" "" "" "g.42711312G>T" "" "likely pathogenic" "" "0000128771" "21" "30" "5" "42629171" "42629171" "subst" "0" "00006" "GHR_000002" "g.42629171G>A" "" "{PMID:Pantel 2003:12679461}" "HinfI-" "c.W16X" "" "Germline" "" "" "0" "" "" "g.42629069G>A" "" "likely benign" "" "0000128772" "21" "90" "5" "42700021" "42700021" "subst" "0.00390488" "00006" "GHR_000039" "g.42700021C>T" "" "{PMID:Goddard 1995:07565946}, {OMIM600946:0007}" "NlaIII+" "Arg161Cys" "" "Germline" "" "" "0" "" "" "g.42699919C>T" "" "pathogenic" "" "0000128774" "21" "90" "5" "42699970" "42699970" "subst" "0.00104185" "00006" "GHR_000029" "g.42699970G>A" "" "{PMID:Sanchez 1998:09814495}" "HSP92II+" "A>G V144I" "variant also in patient\'s younger brother and mother (also determined heterozygous (A/G) for the previously reported polymorphism in exon 6 at pos. G168. The patient\'s father and older brother were homozygous (C/C) at this locus." "Germline" "" "" "0" "" "" "g.42699868G>A" "" "pathogenic" "" "0000128775" "20" "90" "5" "42700001" "42700001" "subst" "0" "00006" "GHR_000036" "g.42700001A>C" "" "{PMID:Wojcik 1998:09851797}" "BstXI+" "A>C Q154P" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42699899A>C" "" "pathogenic" "" "0000128776" "20" "90" "5" "42699994" "42699994" "subst" "1.22124E-5" "00006" "GHR_000033" "g.42699994G>C" "" "{PMID:Wojcik 1998:09851797}" "EcoRV-" "G>C D152H" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42699892G>C" "" "pathogenic" "" "0000128777" "11" "90" "5" "42718168" "42718190" "del" "0" "00006" "GHR_000059" "g.42718168_42718190del" "" "{PMID:Wojcik 1998:09851797}" "-" "889_911del" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42718066_42718088del" "" "pathogenic" "" "0000128778" "20" "90" "5" "42700004" "42700004" "subst" "0" "00006" "GHR_000037" "g.42700004T>G" "" "{PMID:Wojcik 1998:09851797}" "Styl+" "T>G V155G" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.42699902T>G" "" "pathogenic" "" "0000128779" "20" "90" "5" "42689047" "42689048" "del" "0" "00006" "GHR_000012" "g.42689047_42689048del" "" "{PMID:Berg 1993:08488849}" "-" "46delTT" "" "Germline" "" "" "0" "" "" "g.42688945_42688946del" "" "pathogenic" "" "0000128780" "20" "90" "5" "42711393" "42711393" "subst" "2.03133E-5" "00006" "GHR_000049" "g.42711393C>T" "" "{PMID:Berg 1993:08488849}" "-" "T>C R217X" "hemizygosity not excluded (no parental DNA)" "Germline" "" "" "0" "" "" "g.42711291C>T" "" "pathogenic" "" "0000128781" "20" "90" "5" "42711393" "42711393" "subst" "2.03133E-5" "00006" "GHR_000049" "g.42711393C>T" "" "{PMID:Berg 1993:08488849}" "-" "T>C R217X" "hemizygosity not excluded (no parental DNA)" "Germline" "" "" "0" "" "" "g.42711291C>T" "" "pathogenic" "" "0000128782" "0" "90" "5" "42689122" "42689122" "subst" "0" "00006" "GHR_000017" "g.42689122G>A" "" "{PMID:Berg 1993:08488849}" "-" "71+1G>A" "" "Germline" "" "" "0" "" "" "g.42689020G>A" "" "pathogenic" "" "0000128783" "20" "90" "5" "42711433" "42711434" "del" "0" "00006" "GHR_000055" "g.42711433_42711434del" "" "{PMID:Berg 1993:08488849}" "-" "230delTA" "hemizygosity not excluded (no parental DNA)" "Germline" "" "" "0" "" "" "g.42711331_42711332del" "" "pathogenic" "" "0000128784" "20" "90" "5" "42711308" "42711308" "subst" "4.06471E-6" "00006" "GHR_000045" "g.42711308G>T" "" "{PMID:Berg 1993:08488849}" "-" "189-1G>T" "variant at consensus acceptor splice site intron 6; alters absolutely conserved position in the consensus sequence, the second G in Chambon\'s GT-AG rule" "Germline" "" "" "0" "" "" "g.42711206G>T" "" "pathogenic" "" "0000128785" "20" "90" "5" "42689036" "42689036" "subst" "1.21892E-5" "00006" "GHR_000010" "g.42689036C>T" "" "{PMID:Berg 1993:08488849}, {OMIM600946:0003}" "-" "R43X" "recurrent variant, different haplotype" "Germline" "" "" "0" "" "" "g.42688934C>T" "" "pathogenic" "" "0000128787" "20" "90" "5" "42699932" "42699932" "subst" "0" "00006" "GHR_000027" "g.42699932C>A" "" "{PMID:Walker 1998:09661642}" "-" "P131Q" "parents and 3 siblings (2 girls and a boy) heterozygous for this variant" "Germline" "" "" "0" "" "" "g.42699830C>A" "" "pathogenic" "" "0000128788" "20" "90" "5" "42689102" "42689102" "subst" "0" "00006" "GHR_000015" "g.42689102C>T" "" "{PMID:Sobrier 1997:09024232}" "-" "197C>T Q65X" "" "Germline" "" "" "0" "" "" "g.42689000C>T" "" "pathogenic" "" "0000128789" "2" "90" "5" "42695045" "42695045" "subst" "8.28E-6" "00006" "GHR_000018" "g.42695045G>A" "" "{PMID:Sobrier 1997:09024232}" "-" "W80X" "" "Germline" "" "" "0" "" "" "g.42694943G>A" "" "pathogenic" "" "0000128790" "20" "90" "5" "42700011" "42700011" "subst" "0" "00006" "GHR_000038" "g.42700011G>A" "" "{PMID:Sobrier 1997:09024232}" "-" "W157X" "" "Germline" "" "" "0" "" "" "g.42699909G>A" "" "pathogenic" "" "0000128791" "20" "90" "5" "42689017" "42689017" "del" "0" "00006" "GHR_000005" "g.42689017del" "" "{PMID:Sobrier 1997:09024232}" "-" "-" "" "Germline" "" "" "0" "" "" "g.42688915del" "" "pathogenic" "" "0000128792" "20" "90" "5" "42566047" "42566047" "subst" "0" "00006" "GHR_000001" "g.42566047G>A" "" "{PMID:Sobrier 1997:09024232}" "-" "" "" "Germline" "" "" "0" "" "" "g.42565945G>A" "" "pathogenic" "" "0000128793" "20" "90" "5" "42566047" "42566047" "subst" "0" "00006" "GHR_000001" "g.42566047G>A" "" "{PMID:Sobrier 1997:09024232}" "-" "" "" "Germline" "" "" "0" "" "" "g.42565945G>A" "" "pathogenic" "" "0000128794" "20" "90" "5" "42711413" "42711413" "subst" "4.0624E-6" "00006" "GHR_000051" "g.42711413C>T" "" "{PMID:Sobrier 1997:09024232}" "-" "G223G" "" "Germline" "" "" "0" "" "" "g.42711311C>T" "" "pathogenic" "" "0000128795" "20" "90" "5" "42689021" "42689021" "subst" "0" "00006" "GHR_000006" "g.42689021T>A" "" "{PMID:Sobrier 1997:09024232}" "-" "C38S" "" "Germline" "" "" "0" "" "" "g.42688919T>A" "" "pathogenic" "" "0000128796" "20" "90" "5" "42689028" "42689028" "subst" "0" "00006" "GHR_000008" "g.42689028C>T" "" "{PMID:Sobrier 1997:09024232}" "-" "S40L" "" "Germline" "" "" "0" "" "" "g.42688926C>T" "" "pathogenic" "" "0000128797" "21" "90" "5" "42689061" "42689061" "subst" "0.000215297" "00006" "GHR_000014" "g.42689061C>T" "" "{PMID:Sakurai 2002:12423626}" "-" "T51I" "older brother and mother (normal height) were also heterozygous for this variant" "Germline" "" "" "0" "" "" "g.42688959C>T" "" "pathogenic" "" "0000128798" "21" "10" "5" "42700044" "42700044" "subst" "0.717608" "00006" "GHR_000040" "g.42700044A>G" "" "{PMID:Sakurai 2002:12423626}" "" "G186G" "" "Germline" "" "rs6179" "0" "" "" "g.42699942A>G" "" "benign" "" "0000128799" "21" "10" "5" "42719145" "42719145" "subst" "0" "00006" "GHR_000065" "g.42719145A>C" "" "{PMID:Sakurai 2002:12423626}" "" "L526I" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs6180" "0" "" "" "g.42719043A>C" "" "benign" "" "0000128800" "21" "90" "5" "42711367" "42711367" "subst" "0" "00006" "GHR_000046" "g.42711367A>G" "?" "{PMID:Enberg 2000:10870033}" "-" "Y208C" "" "Germline" "" "" "0" "" "" "g.42711265A>G" "" "pathogenic" "" "0000128801" "21" "90" "5" "42711367" "42711367" "subst" "0" "00006" "GHR_000046" "g.42711367A>G" "?" "{PMID:Enberg 2000:10870033}" "-" "Y208C" "" "Germline" "" "" "0" "" "" "g.42711265A>G" "" "pathogenic" "" "0000128803" "20" "90" "5" "42695090" "42695090" "dup" "0" "00006" "GHR_000070" "g.42695090dup" "" "{PMID:Diniz 2008:19169479}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.42694988dup" "" "pathogenic" "" "0000129924" "0" "70" "5" "42700045" "42700045" "subst" "0" "01760" "GHR_000071" "g.42700045T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42699943T>C" "" "likely pathogenic" "" "0000247952" "0" "10" "5" "42700044" "42700044" "subst" "0.717608" "02325" "GHR_000040" "g.42700044A>G" "" "" "" "GHR(NM_000163.4):c.558A>G (p.G186=), GHR(NM_001242400.2):c.558A>G (p.G186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42699942A>G" "" "benign" "" "0000247986" "0" "10" "5" "42719239" "42719239" "subst" "0.435576" "02325" "GHR_000078" "g.42719239A>C" "" "" "" "GHR(NM_000163.4):c.1630A>C (p.I544L), GHR(NM_001242400.2):c.1630A>C (p.I544L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42719137A>C" "" "benign" "" "0000253213" "0" "10" "5" "42700044" "42700044" "subst" "0.717608" "01943" "GHR_000040" "g.42700044A>G" "" "" "" "GHR(NM_000163.4):c.558A>G (p.G186=), GHR(NM_001242400.2):c.558A>G (p.G186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42699942A>G" "" "benign" "" "0000253247" "0" "10" "5" "42719239" "42719239" "subst" "0.435576" "01943" "GHR_000078" "g.42719239A>C" "" "" "" "GHR(NM_000163.4):c.1630A>C (p.I544L), GHR(NM_001242400.2):c.1630A>C (p.I544L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42719137A>C" "" "benign" "" "0000253790" "0" "10" "5" "42711281" "42711281" "subst" "0.0279816" "01943" "GHR_000079" "g.42711281A>G" "" "" "" "GHR(NM_000163.4):c.619-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42711179A>G" "" "benign" "" "0000281032" "0" "10" "5" "42646448" "42646448" "subst" "0" "02325" "GHR_000072" "g.42646448T>A" "" "" "" "GHR(NM_001242400.2):c.136+17243T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42646346T>A" "" "benign" "" "0000288312" "0" "10" "5" "42718928" "42718928" "subst" "0.0402299" "01943" "GHR_000063" "g.42718928G>T" "" "" "" "GHR(NM_000163.4):c.1319G>T (p.C440F, p.(Cys440Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42718826G>T" "" "benign" "" "0000288313" "0" "10" "5" "42719082" "42719082" "subst" "0.0227496" "01943" "GHR_000077" "g.42719082C>T" "" "" "" "GHR(NM_000163.4):c.1473C>T (p.S491=, p.(Ser491=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42718980C>T" "" "benign" "" "0000288314" "0" "10" "5" "42719344" "42719344" "subst" "0.0402297" "01943" "GHR_000066" "g.42719344C>A" "" "" "" "GHR(NM_000163.4):c.1735C>A (p.P579T, p.(Pro579Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42719242C>A" "" "benign" "" "0000288315" "0" "30" "5" "42695025" "42695025" "subst" "0.00088869" "01943" "GHR_000073" "g.42695025T>A" "" "" "" "GHR(NM_000163.4):c.273T>A (p.(Thr91=)), GHR(NM_001242400.2):c.273T>A (p.T91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42694923T>A" "" "likely benign" "" "0000288316" "0" "10" "5" "42711280" "42711280" "subst" "0.0279986" "01943" "GHR_000074" "g.42711280C>T" "" "" "" "GHR(NM_000163.4):c.619-29C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42711178C>T" "" "benign" "" "0000288317" "0" "10" "5" "42713507" "42713507" "subst" "0.000583541" "01943" "GHR_000075" "g.42713507G>A" "" "" "" "GHR(NM_000163.4):c.785-24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42713405G>A" "" "benign" "" "0000288318" "0" "10" "5" "42718433" "42718434" "dup" "0" "01943" "GHR_000076" "g.42718433_42718434dup" "" "" "" "GHR(NM_000163.4):c.946-121_946-120dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42718331_42718332dup" "" "benign" "" "0000525764" "0" "90" "5" "42689047" "42689048" "del" "0" "01943" "GHR_000012" "g.42689047_42689048del" "" "" "" "GHR(NM_000163.4):c.192_193del (p.(Ser65MetfsTer6)), GHR(NM_001242400.2):c.192_193delTT (p.S65Mfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42688945_42688946del" "" "pathogenic" "" "0000525765" "0" "30" "5" "42695016" "42695016" "subst" "0.000107819" "01943" "GHR_000080" "g.42695016T>C" "" "" "" "GHR(NM_000163.4):c.267-3T>C (p.?), GHR(NM_001242400.2):c.267-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42694914T>C" "" "likely benign" "" "0000525766" "0" "30" "5" "42695016" "42695016" "subst" "0.000107819" "01804" "GHR_000080" "g.42695016T>C" "" "" "" "GHR(NM_000163.4):c.267-3T>C (p.?), GHR(NM_001242400.2):c.267-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42694914T>C" "" "likely benign" "" "0000525768" "0" "30" "5" "42711376" "42711376" "subst" "0.00126357" "01804" "GHR_000048" "g.42711376G>A" "" "" "" "GHR(NM_000163.4):c.686G>A (p.(Arg229His)), GHR(NM_000163.5):c.686G>A (p.R229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42711274G>A" "" "likely benign" "" "0000525769" "0" "30" "5" "42718612" "42718612" "subst" "5.69198E-5" "01804" "GHR_000081" "g.42718612G>A" "" "" "" "GHR(NM_000163.4):c.1003G>A (p.(Glu335Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42718510G>A" "" "likely benign" "" "0000525771" "0" "30" "5" "42718928" "42718928" "subst" "0.0402299" "01804" "GHR_000063" "g.42718928G>T" "" "" "" "GHR(NM_000163.4):c.1319G>T (p.C440F, p.(Cys440Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42718826G>T" "" "likely benign" "" "0000525772" "0" "50" "5" "42719072" "42719072" "subst" "0.000105918" "01804" "GHR_000083" "g.42719072C>T" "" "" "" "GHR(NM_000163.4):c.1463C>T (p.(Ala488Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42718970C>T" "" "VUS" "" "0000525773" "0" "70" "5" "42719073" "42719073" "subst" "0.000101868" "01804" "GHR_000084" "g.42719073C>T" "" "" "" "GHR(NM_000163.4):c.1464C>T (p.(Ala488=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42718971C>T" "" "likely pathogenic" "" "0000525774" "0" "30" "5" "42719082" "42719082" "subst" "0.0227496" "01804" "GHR_000077" "g.42719082C>T" "" "" "" "GHR(NM_000163.4):c.1473C>T (p.S491=, p.(Ser491=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42718980C>T" "" "likely benign" "" "0000525775" "0" "30" "5" "42719092" "42719092" "subst" "0.00215577" "01804" "GHR_000085" "g.42719092C>A" "" "" "" "GHR(NM_000163.4):c.1483C>A (p.(Pro495Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42718990C>A" "" "likely benign" "" "0000525776" "0" "50" "5" "42719104" "42719104" "subst" "8.23493E-6" "01804" "GHR_000086" "g.42719104G>A" "" "" "" "GHR(NM_000163.4):c.1495G>A (p.(Val499Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42719002G>A" "" "VUS" "" "0000525778" "0" "10" "5" "42719344" "42719344" "subst" "0.0402297" "01804" "GHR_000066" "g.42719344C>A" "" "" "" "GHR(NM_000163.4):c.1735C>A (p.P579T, p.(Pro579Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42719242C>A" "" "benign" "" "0000609734" "0" "50" "5" "42695161" "42695161" "subst" "3.25121E-5" "01804" "GHR_000088" "g.42695161G>C" "" "" "" "GHR(NM_000163.4):c.409G>C (p.(Asp137His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42695059G>C" "" "VUS" "" "0000651733" "1" "50" "5" "42700021" "42700021" "subst" "0.00390488" "03575" "GHR_000039" "g.42700021C>T" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs121909362}" "Germline" "" "rs121909362" "0" "" "" "g.42699919C>T" "" "VUS" "" "0000651734" "1" "10" "5" "42711280" "42711280" "subst" "0.0279986" "03575" "GHR_000074" "g.42711280C>T" "128/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "128 heterozygous; {DB:CLININrs6178}" "Germline" "" "rs6178" "0" "" "" "g.42711178C>T" "" "benign" "" "0000651735" "1" "50" "5" "42711408" "42711408" "subst" "0.000280308" "03575" "GHR_000050" "g.42711408T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs143814221}" "Germline" "" "rs143814221" "0" "" "" "g.42711306T>C" "" "VUS" "" "0000651736" "1" "30" "5" "42719092" "42719092" "subst" "0.00215577" "03575" "GHR_000085" "g.42719092C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs6183}" "Germline" "" "rs6183" "0" "" "" "g.42718990C>A" "" "likely benign" "" "0000651737" "1" "30" "5" "42721460" "42721460" "subst" "0" "03575" "GHR_000089" "g.42721460T>C" "43/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "43 heterozygous, no homozygous; {DB:CLININrs62372049}" "Germline" "" "rs62372049" "0" "" "" "g.42721358T>C" "" "likely benign" "" "0000653532" "0" "50" "5" "42689006" "42689006" "subst" "0" "01164" "GHR_000090" "g.42689006C>G" "" "" "" "" "ACMG: PM2,PP3" "Germline" "" "" "0" "" "" "g.42688904C>G" "" "VUS" "ACMG" "0000669853" "3" "10" "5" "42711280" "42711280" "subst" "0.0279986" "03575" "GHR_000074" "g.42711280C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs6178}" "Germline" "" "rs6178" "0" "" "" "g.42711178C>T" "" "benign" "" "0000677519" "0" "50" "5" "42718885" "42718885" "subst" "0" "02327" "GHR_000091" "g.42718885C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720442" "0" "50" "5" "42688992" "42688992" "subst" "4.06355E-6" "01943" "GHR_000092" "g.42688992A>T" "" "" "" "GHR(NM_001242400.2):c.137A>T (p.N46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720443" "0" "90" "5" "42689047" "42689048" "del" "0" "01804" "GHR_000012" "g.42689047_42689048del" "" "" "" "GHR(NM_000163.4):c.192_193del (p.(Ser65MetfsTer6)), GHR(NM_001242400.2):c.192_193delTT (p.S65Mfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720444" "0" "50" "5" "42700021" "42700021" "subst" "0.00390488" "02327" "GHR_000039" "g.42700021C>T" "" "" "" "GHR(NM_000163.5):c.535C>T (p.R179C), GHR(NM_001242400.2):c.535C>T (p.R179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720445" "0" "70" "5" "42711375" "42711375" "subst" "1.62525E-5" "01804" "GHR_000093" "g.42711375C>T" "" "" "" "GHR(NM_000163.4):c.685C>T (p.(Arg229Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720446" "0" "30" "5" "42718139" "42718139" "subst" "0.000313362" "01804" "GHR_000094" "g.42718139T>G" "" "" "" "GHR(NM_000163.4):c.876-15T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720447" "0" "30" "5" "42718814" "42718814" "subst" "1.22003E-5" "01804" "GHR_000095" "g.42718814A>T" "" "" "" "GHR(NM_000163.4):c.1205A>T (p.(Asn402Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802119" "0" "90" "5" "42700021" "42700021" "subst" "0.00390488" "01943" "GHR_000039" "g.42700021C>T" "" "" "" "GHR(NM_000163.5):c.535C>T (p.R179C), GHR(NM_001242400.2):c.535C>T (p.R179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850924" "0" "50" "5" "42718594" "42718594" "subst" "0" "02329" "GHR_000109" "g.42718594C>T" "" "" "" "GHR(NM_001242400.2):c.985C>T (p.H329Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859946" "0" "50" "5" "42565965" "42565965" "subst" "4.06075E-5" "01804" "GHR_000096" "g.42565965G>C" "" "" "" "GHR(NM_000163.4):c.-11-1G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859947" "0" "30" "5" "42565969" "42565969" "subst" "0" "01804" "GHR_000097" "g.42565969C>G" "" "" "" "GHR(NM_000163.4):c.-8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859948" "0" "50" "5" "42565981" "42565981" "subst" "4.06072E-6" "01804" "GHR_000098" "g.42565981A>T" "" "" "" "GHR(NM_000163.4):c.5A>T (p.(Asp2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859949" "0" "30" "5" "42565997" "42565997" "subst" "4.06078E-6" "01804" "GHR_000099" "g.42565997G>A" "" "" "" "GHR(NM_000163.4):c.21G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859950" "0" "90" "5" "42689023" "42689023" "subst" "1.21891E-5" "01804" "GHR_000007" "g.42689023C>A" "" "" "" "GHR(NM_000163.4):c.168C>A (p.(Cys56*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859951" "0" "50" "5" "42689033" "42689033" "subst" "4.06296E-6" "01804" "GHR_000100" "g.42689033G>C" "" "" "" "GHR(NM_000163.4):c.178G>C (p.(Glu60Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859952" "0" "50" "5" "42689061" "42689061" "subst" "0.000215297" "01804" "GHR_000014" "g.42689061C>T" "" "" "" "GHR(NM_000163.4):c.206C>T (p.(Thr69Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859953" "0" "30" "5" "42695025" "42695025" "subst" "0.00088869" "01804" "GHR_000073" "g.42695025T>A" "" "" "" "GHR(NM_000163.4):c.273T>A (p.(Thr91=)), GHR(NM_001242400.2):c.273T>A (p.T91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859954" "0" "90" "5" "42695096" "42695096" "subst" "0" "01804" "GHR_000101" "g.42695096A>C" "" "" "" "GHR(NM_000163.4):c.344A>C (p.(Asn115Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859955" "0" "30" "5" "42695163" "42695163" "subst" "0.000178809" "01804" "GHR_000102" "g.42695163T>A" "" "" "" "GHR(NM_000163.4):c.411T>A (p.(Asp137Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859956" "0" "50" "5" "42700022" "42700022" "subst" "0.00024024" "01804" "GHR_000103" "g.42700022G>A" "" "" "" "GHR(NM_000163.4):c.536G>A (p.(Arg179His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859957" "0" "50" "5" "42711340" "42711340" "subst" "4.06293E-6" "01804" "GHR_000104" "g.42711340T>C" "" "" "" "GHR(NM_000163.4):c.650T>C (p.(Val217Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859958" "0" "90" "5" "42711393" "42711393" "subst" "2.03133E-5" "01804" "GHR_000049" "g.42711393C>T" "" "" "" "GHR(NM_000163.4):c.703C>T (p.(Arg235Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859959" "0" "30" "5" "42713522" "42713522" "subst" "0.00291991" "01804" "GHR_000105" "g.42713522G>A" "" "" "" "GHR(NM_000163.4):c.785-9G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859960" "0" "50" "5" "42713616" "42713616" "subst" "8.27671E-6" "01804" "GHR_000106" "g.42713616G>A" "" "" "" "GHR(NM_000163.4):c.870G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859961" "0" "30" "5" "42718205" "42718205" "subst" "2.03217E-5" "01804" "GHR_000107" "g.42718205C>T" "" "" "" "GHR(NM_000163.4):c.927C>T (p.(Ile309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859962" "0" "30" "5" "42718577" "42718577" "subst" "0.000443277" "01804" "GHR_000108" "g.42718577A>G" "" "" "" "GHR(NM_000163.4):c.968A>G (p.(Asn323Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859963" "0" "30" "5" "42718707" "42718707" "subst" "0.00229645" "01804" "GHR_000110" "g.42718707A>G" "" "" "" "GHR(NM_000163.4):c.1098A>G (p.(Leu366=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859964" "0" "30" "5" "42718719" "42718719" "subst" "7.31791E-5" "01804" "GHR_000111" "g.42718719T>A" "" "" "" "GHR(NM_000163.4):c.1110T>A (p.(His370Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859965" "0" "50" "5" "42718765" "42718765" "subst" "0.000329493" "01804" "GHR_000062" "g.42718765C>T" "" "" "" "GHR(NM_000163.4):c.1156C>T (p.(Arg386Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859966" "0" "50" "5" "42718936" "42718936" "subst" "0" "01804" "GHR_000112" "g.42718936A>T" "" "" "" "GHR(NM_000163.4):c.1327A>T (p.(Thr443Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859967" "0" "50" "5" "42719041" "42719041" "subst" "2.03249E-5" "01804" "GHR_000113" "g.42719041C>G" "" "" "" "GHR(NM_000163.4):c.1432C>G (p.(Pro478Ala)), GHR(NM_000163.5):c.1432C>G (p.P478A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859968" "0" "70" "5" "42719120" "42719120" "dup" "0" "01804" "GHR_000114" "g.42719120dup" "" "" "" "GHR(NM_000163.4):c.1511dup (p.(Gln505Profs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859969" "0" "50" "5" "42719329" "42719329" "subst" "4.06832E-6" "01804" "GHR_000115" "g.42719329A>G" "" "" "" "GHR(NM_000163.4):c.1720A>G (p.(Thr574Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859970" "0" "50" "5" "42719468" "42719468" "subst" "0" "01804" "GHR_000116" "g.42719468A>C" "" "" "" "GHR(NM_000163.4):c.1859A>C (p.(Glu620Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878322" "0" "50" "5" "42719107" "42719107" "subst" "4.12279E-6" "03779" "GHR_000117" "g.42719107G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs763317932" "0" "" "" "" "" "VUS" "" "0000886871" "0" "30" "5" "42425145" "42425145" "subst" "0" "01804" "GHR_000118" "g.42425145C>G" "" "" "" "GHR(NM_000163.4):c.-12+1088C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886872" "0" "50" "5" "42689031" "42689031" "subst" "0" "01804" "GHR_000119" "g.42689031C>T" "" "" "" "GHR(NM_000163.4):c.176C>T (p.(Pro59Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886873" "0" "30" "5" "42699970" "42699970" "subst" "0.00104185" "01804" "GHR_000029" "g.42699970G>A" "" "" "" "GHR(NM_000163.4):c.484G>A (p.(Val162Ile)), GHR(NM_000163.5):c.484G>A (p.V162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886874" "0" "30" "5" "42699970" "42699970" "subst" "0.00104185" "02325" "GHR_000029" "g.42699970G>A" "" "" "" "GHR(NM_000163.4):c.484G>A (p.(Val162Ile)), GHR(NM_000163.5):c.484G>A (p.V162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886875" "0" "50" "5" "42711376" "42711376" "subst" "0.00126357" "02325" "GHR_000048" "g.42711376G>A" "" "" "" "GHR(NM_000163.4):c.686G>A (p.(Arg229His)), GHR(NM_000163.5):c.686G>A (p.R229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886877" "0" "50" "5" "42711416" "42711416" "subst" "2.03135E-5" "01804" "GHR_000053" "g.42711416G>C" "" "" "" "GHR(NM_000163.4):c.726G>C (p.(Glu242Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886878" "0" "30" "5" "42713631" "42713631" "subst" "0.000836454" "01804" "GHR_000120" "g.42713631G>C" "" "" "" "GHR(NM_000163.4):c.875+10G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886879" "0" "30" "5" "42718897" "42718897" "subst" "0" "01804" "GHR_000121" "g.42718897A>G" "" "" "" "GHR(NM_000163.4):c.1288A>G (p.(Asn430Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886880" "0" "50" "5" "42718940" "42718940" "subst" "0" "01804" "GHR_000122" "g.42718940A>T" "" "" "" "GHR(NM_000163.4):c.1331A>T (p.(Gln444Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886881" "0" "30" "5" "42718992" "42718992" "subst" "8.12797E-6" "01804" "GHR_000123" "g.42718992T>G" "" "" "" "GHR(NM_000163.4):c.1383T>G (p.(Thr461=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886882" "0" "50" "5" "42719126" "42719126" "subst" "0" "02325" "GHR_000124" "g.42719126A>T" "" "" "" "GHR(NM_000163.5):c.1517A>T (p.K506M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912344" "0" "30" "5" "42689005" "42689005" "subst" "0" "01804" "GHR_000125" "g.42689005G>A" "" "" "" "GHR(NM_000163.4):c.150G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912345" "0" "30" "5" "42689094" "42689094" "subst" "0.000292443" "01804" "GHR_000126" "g.42689094G>T" "" "" "" "GHR(NM_000163.4):c.239G>T (p.(Gly80Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912346" "0" "30" "5" "42695200" "42695200" "subst" "0.000329464" "01804" "GHR_000127" "g.42695200C>T" "" "" "" "GHR(NM_000163.4):c.439+9C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912347" "0" "30" "5" "42711394" "42711394" "subst" "2.03143E-5" "01804" "GHR_000128" "g.42711394G>A" "" "" "" "GHR(NM_000163.4):c.704G>A (p.(Arg235Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912348" "0" "30" "5" "42719151" "42719151" "subst" "0.00024568" "01804" "GHR_000129" "g.42719151T>G" "" "" "" "GHR(NM_000163.4):c.1542T>G (p.(Cys514Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912349" "0" "30" "5" "42719275" "42719275" "subst" "8.13114E-6" "01804" "GHR_000130" "g.42719275A>T" "" "" "" "GHR(NM_000163.4):c.1666A>T (p.(Ile556Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924351" "0" "30" "5" "42695158" "42695158" "subst" "0.000121914" "01804" "GHR_000131" "g.42695158G>T" "" "" "" "GHR(NM_000163.4):c.406G>T (p.(Val136Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924352" "0" "50" "5" "42699990" "42699990" "subst" "4.07063E-6" "02327" "GHR_000032" "g.42699990T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924353" "0" "50" "5" "42700021" "42700021" "subst" "0.00390488" "02325" "GHR_000039" "g.42700021C>T" "" "" "" "GHR(NM_000163.5):c.535C>T (p.R179C), GHR(NM_001242400.2):c.535C>T (p.R179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924354" "0" "30" "5" "42700054" "42700054" "subst" "0.000122146" "01804" "GHR_000132" "g.42700054C>T" "" "" "" "GHR(NM_000163.4):c.568C>T (p.(Leu190=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924355" "0" "50" "5" "42713560" "42713560" "subst" "0.000188124" "01804" "GHR_000133" "g.42713560A>G" "" "" "" "GHR(NM_000163.4):c.814A>G (p.(Ile272Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924356" "0" "50" "5" "42718146" "42718146" "subst" "0" "01804" "GHR_000134" "g.42718146T>G" "" "" "" "GHR(NM_000163.4):c.876-8T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929085" "0" "10" "5" "42629168" "42629168" "subst" "0.0019889" "01804" "GHR_000135" "g.42629168C>G" "" "" "" "GHR(NM_000163.4):c.99C>G (p.(Pro33=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963622" "0" "30" "5" "42424703" "42424703" "subst" "0.00075487" "01804" "GHR_000136" "g.42424703A>T" "" "" "" "GHR(NM_000163.4):c.-12+646A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963623" "0" "50" "5" "42700016" "42700016" "subst" "0" "01804" "GHR_000137" "g.42700016C>A" "" "" "" "GHR(NM_000163.4):c.530C>A (p.(Ala177Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963625" "0" "50" "5" "42719098" "42719098" "subst" "0" "01804" "GHR_000138" "g.42719098G>A" "" "" "" "GHR(NM_000163.4):c.1489G>A (p.(Gly497Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976803" "0" "50" "5" "42711375" "42711375" "subst" "0" "01804" "GHR_000139" "g.42711375C>A" "" "" "" "GHR(NM_000163.5):c.685C>A (p.(Arg229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976804" "0" "30" "5" "42718546" "42718546" "subst" "0" "01804" "GHR_000140" "g.42718546A>G" "" "" "" "GHR(NM_000163.5):c.946-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995061" "0" "30" "5" "42424705" "42424705" "subst" "8.11675E-6" "01804" "GHR_000141" "g.42424705G>A" "" "" "" "GHR(NM_000163.4):c.-12+648G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995062" "0" "50" "5" "42566001" "42566001" "subst" "4.06078E-6" "01804" "GHR_000142" "g.42566001A>T" "" "" "" "GHR(NM_000163.4):c.25A>T (p.(Thr9Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995063" "0" "50" "5" "42689025" "42689025" "subst" "7.31345E-5" "01804" "GHR_000143" "g.42689025G>A" "" "" "" "GHR(NM_000163.4):c.170G>A (p.(Arg57His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995064" "0" "50" "5" "42689041" "42689042" "del" "0" "01804" "GHR_000144" "g.42689041_42689042del" "" "" "" "GHR(NM_000163.4):c.186_187delGA (p.(Glu62fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995065" "0" "50" "5" "42695126" "42695126" "subst" "0" "01804" "GHR_000145" "g.42695126A>T" "" "" "" "GHR(NM_000163.4):c.374A>T (p.(Tyr125Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995066" "0" "30" "5" "42711348" "42711348" "subst" "8.12559E-5" "01804" "GHR_000146" "g.42711348T>C" "" "" "" "GHR(NM_000163.4):c.658T>C (p.(Leu220=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995067" "0" "50" "5" "42713624" "42713660" "del" "0" "01804" "GHR_000147" "g.42713624_42713660del" "" "" "" "GHR(NM_000163.4):c.875+3_875+39del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995068" "0" "30" "5" "42718598" "42718598" "subst" "3.65928E-5" "01804" "GHR_000148" "g.42718598A>T" "" "" "" "GHR(NM_001242402.2):c.989A>T (p.(Asp330Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995069" "0" "30" "5" "42719145" "42719145" "subst" "0.000246291" "01804" "GHR_000149" "g.42719145C>T" "" "" "" "GHR(NM_000163.4):c.1536C>T (p.(Ser512=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995070" "0" "50" "5" "42719210" "42719210" "subst" "7.3182E-5" "01804" "GHR_000150" "g.42719210A>G" "" "" "" "GHR(NM_000163.4):c.1601A>G (p.(Tyr534Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014130" "0" "30" "5" "42424719" "42424719" "subst" "2.43518E-5" "01804" "GHR_000151" "g.42424719G>A" "" "" "" "GHR(NM_000163.4):c.-12+662G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014131" "0" "30" "5" "42566018" "42566018" "subst" "0" "01804" "GHR_000152" "g.42566018A>G" "" "" "" "GHR(NM_000163.4):c.42A>G (p.(Gly14=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014132" "0" "30" "5" "42711454" "42711454" "subst" "0" "01804" "GHR_000153" "g.42711454G>A" "" "" "" "GHR(NM_000163.4):c.764G>A (p.(Ser255Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014133" "0" "50" "5" "42719041" "42719041" "subst" "2.03249E-5" "02325" "GHR_000113" "g.42719041C>G" "" "" "" "GHR(NM_000163.4):c.1432C>G (p.(Pro478Ala)), GHR(NM_000163.5):c.1432C>G (p.P478A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025109" "0" "50" "5" "42711390" "42711390" "subst" "0" "01804" "GHR_000154" "g.42711390C>G" "" "" "" "GHR(NM_000163.4):c.700C>G (p.(Gln234Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025110" "0" "50" "5" "42718753" "42718753" "subst" "1.22029E-5" "01804" "GHR_000155" "g.42718753G>T" "" "" "" "GHR(NM_000163.4):c.1144G>T (p.(Gly382Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035231" "0" "50" "5" "42565967" "42565967" "subst" "0.000572556" "01804" "GHR_000156" "g.42565967T>C" "" "" "" "GHR(NM_000163.4):c.-10T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035232" "0" "50" "5" "42718154" "42718154" "subst" "0" "01804" "GHR_000157" "g.42718154G>T" "" "" "" "GHR(NM_000163.4):c.876G>T (p.(Arg292Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035233" "0" "50" "5" "42719272" "42719272" "subst" "4.06593E-6" "01804" "GHR_000158" "g.42719272C>T" "" "" "" "GHR(NM_000163.4):c.1663C>T (p.(His555Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035234" "0" "90" "5" "42719293" "42719293" "subst" "0" "01804" "GHR_000159" "g.42719293C>T" "" "" "" "GHR(NM_000163.4):c.1684C>T (p.(Gln562Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046030" "0" "50" "5" "42689024" "42689024" "subst" "1.62517E-5" "01804" "GHR_000160" "g.42689024C>T" "" "" "" "GHR(NM_000163.4):c.169C>T (p.(Arg57Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046031" "0" "50" "5" "42719482" "42719482" "subst" "8.13286E-6" "01804" "GHR_000161" "g.42719482T>C" "" "" "" "GHR(NM_000163.4):c.1873T>C (p.(Cys625Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048702" "0" "70" "5" "42718146" "42718146" "subst" "0" "03779" "GHR_000162" "g.42718146T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001051961" "0" "50" "5" "42700030" "42700030" "subst" "0" "01804" "GHR_000163" "g.42700030G>C" "" "" "" "GHR(NM_000163.5):c.544G>C (p.(Asp182His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GHR ## Count = 223 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000128589" "00008497" "90" "335" "0" "335" "0" "c.335G>C" "r.(?)" "p.(Cys112Ser)" "5" "0000128598" "00008497" "90" "" "" "" "" "c.[71-?_136+?; 267-?_618+?]" "r.?" "p.?" "2i" "0000128599" "00008497" "90" "" "" "" "" "c.[71-?_136+?; 267-?_618+?]" "r.?" "p.?" "2i" "0000128600" "00008497" "50" "1918" "0" "4317" "0" "c.(*1_*2400)ins200?" "r.?" "p.(?)" "10" "0000128601" "00008497" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000128602" "00008497" "90" "168" "0" "168" "0" "c.168C>A" "r.(?)" "p.(Cys56*)" "4" "0000128603" "00008497" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000128627" "00008497" "90" "335" "0" "335" "0" "c.335G>C" "r.(?)" "p.(Cys112Ser)" "5" "0000128632" "00008497" "90" "726" "0" "726" "0" "c.726G>C" "r.726c>y" "p.Glu242Asp" "7" "0000128633" "00008497" "70" "981" "0" "981" "0" "c.981del" "r.(?)" "p.(Ile328PhefsTer21)" "10" "0000128634" "00008497" "30" "138" "0" "138" "0" "c.138C>A" "r.(?)" "p.(Cys56*)" "4" "0000128635" "00008497" "90" "686" "0" "686" "0" "c.686G>A" "r.686g>a" "p.Arg229His" "7" "0000128636" "00008497" "90" "420" "0" "420" "0" "c.420T>A" "r.420u>a" "p.Cys122*" "5" "0000128637" "00008497" "90" "184" "0" "184" "0" "c.184G>A" "r.184g>a" "p.Glu62Lys" "4" "0000128639" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(=)" "6" "0000128640" "00008497" "90" "515" "0" "515" "0" "c.515A>C" "r.(?)" "p.(Gln172Pro)" "6" "0000128641" "00008497" "90" "508" "0" "508" "0" "c.508G>C" "r.(?)" "p.(Asp170His)" "6" "0000128642" "00008497" "90" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "6" "0000128643" "00008497" "90" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Val173Glu)" "6" "0000128644" "00008497" "90" "192" "0" "193" "0" "c.192_193del" "r.(?)" "p.(fs*)" "4" "0000128645" "00008497" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "7" "0000128646" "00008497" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "7" "0000128647" "00008497" "90" "192" "0" "193" "0" "c.192_193del" "r.(?)" "p.(fs*)" "4" "0000128648" "00008497" "90" "743" "0" "744" "0" "c.743_744del" "r.(?)" "p.(fs*)" "7" "0000128649" "00008497" "90" "619" "-1" "619" "-1" "c.619-1G>T" "r.spl?" "p.del?" "6i" "0000128650" "00008497" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.Arg61*" "4" "0000128668" "00008497" "90" "945" "1" "945" "1" "c.945+1G>A" "r.(?)" "p.(fs*)" "9i" "0000128669" "00008497" "90" "945" "1" "945" "1" "c.945+1G>A" "r.876_945del" "p.fs*" "9i" "0000128670" "00008497" "90" "945" "1" "945" "1" "c.945+1G>A" "r.876_945del" "p.fs*" "9i" "0000128671" "00008497" "90" "446" "0" "446" "0" "c.446C>A" "r.(?)" "p.Pro149Gln" "6" "0000128672" "00008497" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Gln83*)" "4" "0000128673" "00008497" "90" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Trp68Arg)" "4" "0000128674" "00008497" "90" "525" "0" "525" "0" "c.525G>A" "r.(?)" "p.(Trp175*)" "6" "0000128675" "00008497" "90" "162" "0" "162" "0" "c.162del" "r.(?)" "p.(Lys55SerfsTer25)" "4" "0000128676" "00008497" "90" "70" "1" "70" "1" "c.70+1G>A" "r.spl?" "p.del?" "2i" "0000128677" "00008497" "90" "70" "1" "70" "1" "c.70+1G>A" "r.spl?" "p.del?" "2i" "0000128678" "00008497" "90" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Gly241Gly)" "7" "0000128679" "00008497" "90" "166" "0" "166" "0" "c.166T>A" "r.(?)" "p.(Cys56Ser)" "4" "0000128680" "00008497" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ser58Leu)" "4" "0000128681" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(=)" "6" "0000128682" "00008497" "90" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" "7" "0000128683" "00008497" "90" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Asp262Asn)" "7" "0000128684" "00008497" "70" "336" "0" "336" "0" "c.336T>C" "r.(?)" "p.(=)" "5" "0000128685" "00008497" "70" "485" "0" "485" "0" "c.485T>C" "r.(?)" "p.(Val162Ala)" "6" "0000128686" "00008497" "90" "347" "0" "347" "0" "c.347C>A" "r.(?)" "p.(Ser116*)" "5" "0000128687" "00008497" "90" "476" "0" "476" "0" "c.476T>A" "r.(?)" "p.(Leu159*)" "6" "0000128688" "00008497" "90" "601" "0" "601" "0" "c.601G>T" "r.(?)" "p.(Glu201*)" "6" "0000128689" "00008497" "90" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242*)" "7" "0000128690" "00008497" "90" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Glu60Lys)" "4" "0000128691" "00008497" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "4" "0000128692" "00008497" "90" "310" "0" "310" "0" "c.310T>G" "r.(?)" "p.(Tyr104Asp)" "5" "0000128693" "00008497" "90" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Phe114Ser)" "5" "0000128694" "00008497" "90" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Asp170Gly)" "6" "0000128695" "00008497" "90" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "6" "0000128696" "00008497" "90" "587" "0" "587" "0" "c.587A>C" "r.(?)" "p.(Tyr196Ser)" "6" "0000128697" "00008497" "90" "718" "0" "718" "0" "c.718T>C" "r.(?)" "p.(Tyr240His)" "7" "0000128698" "00008497" "90" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Glu242Asp)" "7" "0000128699" "00008497" "90" "731" "0" "731" "0" "c.731G>T" "r.(?)" "p.(Ser244Ile)" "7" "0000128700" "00008497" "90" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Ala496Thr)" "10" "0000128720" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(=)" "6" "0000128721" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(=)" "6" "0000128722" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(=)" "6" "0000128725" "00008497" "90" "338" "0" "338" "0" "c.338dup" "r.(?)" "p.(Tyr113*)" "5" "0000128744" "00008497" "90" "504" "0" "504" "0" "c.504T>G" "r.(?)" "p.(His168Gln)" "6" "0000128749" "00008497" "90" "" "" "" "" "c.[71-?_136+?; 267-?_618+?]" "r.?" "p.?" "2i" "0000128750" "00008497" "90" "" "" "" "" "c.[71-?_136+?; 267-?_618+?]" "r.?" "p.?" "2i" "0000128751" "00008497" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000128752" "00008497" "90" "168" "0" "168" "0" "c.168C>A" "r.(?)" "p.(Cys56*)" "4" "0000128753" "00008497" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "4" "0000128768" "00008497" "90" "504" "0" "504" "0" "c.504T>G" "r.(?)" "p.(His168Gln)" "6" "0000128770" "00008497" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.Glu224Stop" "7" "0000128771" "00008497" "30" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Trp34*)" "3" "0000128772" "00008497" "90" "535" "0" "535" "0" "c.535C>T" "r.535c>u" "p.Arg179Cys" "6" "0000128774" "00008497" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val144Ile)" "6" "0000128775" "00008497" "90" "515" "0" "515" "0" "c.515A>C" "r.(?)" "p.(Gln172Pro)" "6" "0000128776" "00008497" "90" "508" "0" "508" "0" "c.508G>C" "r.(?)" "p.(Asp170His)" "6" "0000128777" "00008497" "90" "890" "0" "912" "0" "c.890_912del" "r.(?)" "p.(Ile297LysfsTer3)" "9" "0000128778" "00008497" "90" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Val173Glu)" "6" "0000128779" "00008497" "90" "192" "0" "193" "0" "c.192_193del" "r.(?)" "p.(fs*)" "4" "0000128780" "00008497" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "7" "0000128781" "00008497" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "7" "0000128782" "00008497" "90" "266" "1" "266" "1" "c.266+1G>A" "r.spl?" "p.del?" "4i" "0000128783" "00008497" "90" "743" "0" "744" "0" "c.743_744del" "r.(?)" "p.(fs*)" "7" "0000128784" "00008497" "90" "619" "-1" "619" "-1" "c.619-1G>T" "r.spl?" "p.del?" "6i" "0000128785" "00008497" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.Arg61*" "4" "0000128787" "00008497" "90" "446" "0" "446" "0" "c.446C>A" "r.(?)" "p.Pro149Gln" "6" "0000128788" "00008497" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Gln83*)" "4" "0000128789" "00008497" "90" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Trp98*)" "5" "0000128790" "00008497" "90" "525" "0" "525" "0" "c.525G>A" "r.(?)" "p.(Trp175*)" "6" "0000128791" "00008497" "90" "162" "0" "162" "0" "c.162del" "r.(?)" "p.(Lys55SerfsTer25)" "4" "0000128792" "00008497" "90" "70" "1" "70" "1" "c.70+1G>A" "r.spl?" "p.del?" "2i" "0000128793" "00008497" "90" "70" "1" "70" "1" "c.70+1G>A" "r.spl?" "p.del?" "2i" "0000128794" "00008497" "90" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Gly241Gly)" "7" "0000128795" "00008497" "90" "166" "0" "166" "0" "c.166T>A" "r.(?)" "p.(Cys56Ser)" "4" "0000128796" "00008497" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ser58Leu)" "4" "0000128797" "00008497" "90" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Thr69Ile)" "4" "0000128798" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(=)" "6" "0000128799" "00008497" "10" "1536" "0" "1536" "0" "c.1536A>C" "r.(?)" "p.(Ile544Leu)" "10" "0000128800" "00008497" "90" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Tyr226Cys)" "7" "0000128801" "00008497" "90" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Tyr226Cys)" "7" "0000128803" "00008497" "90" "338" "0" "338" "0" "c.338dup" "r.(?)" "p.(Tyr113*)" "5" "0000129924" "00008497" "70" "559" "0" "559" "0" "c.559T>C" "r.(559u>c)" "p.(Trp187Arg)" "6" "0000247952" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(Gly186=)" "" "0000247986" "00008497" "10" "1630" "0" "1630" "0" "c.1630A>C" "r.(?)" "p.(Ile544Leu)" "" "0000253213" "00008497" "10" "558" "0" "558" "0" "c.558A>G" "r.(?)" "p.(Gly186=)" "" "0000253247" "00008497" "10" "1630" "0" "1630" "0" "c.1630A>C" "r.(?)" "p.(Ile544Leu)" "" "0000253790" "00008497" "10" "619" "-28" "619" "-28" "c.619-28A>G" "r.(=)" "p.(=)" "" "0000281032" "00008497" "10" "136" "17243" "136" "17243" "c.136+17243T>A" "r.(=)" "p.(=)" "" "0000288312" "00008497" "10" "1319" "0" "1319" "0" "c.1319G>T" "r.(?)" "p.(Cys440Phe)" "" "0000288313" "00008497" "10" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(Ser491=)" "" "0000288314" "00008497" "10" "1735" "0" "1735" "0" "c.1735C>A" "r.(?)" "p.(Pro579Thr)" "" "0000288315" "00008497" "30" "273" "0" "273" "0" "c.273T>A" "r.(?)" "p.(Thr91=)" "" "0000288316" "00008497" "10" "619" "-29" "619" "-29" "c.619-29C>T" "r.(=)" "p.(=)" "" "0000288317" "00008497" "10" "785" "-24" "785" "-24" "c.785-24G>A" "r.(=)" "p.(=)" "" "0000288318" "00008497" "10" "946" "-122" "946" "-121" "c.946-122_946-121dup" "r.(=)" "p.(=)" "" "0000525764" "00008497" "90" "192" "0" "193" "0" "c.192_193del" "r.(?)" "p.(Ser65MetfsTer6)" "" "0000525765" "00008497" "30" "267" "-3" "267" "-3" "c.267-3T>C" "r.spl?" "p.?" "" "0000525766" "00008497" "30" "267" "-3" "267" "-3" "c.267-3T>C" "r.spl?" "p.?" "" "0000525768" "00008497" "30" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Arg229His)" "" "0000525769" "00008497" "30" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Glu335Lys)" "" "0000525771" "00008497" "30" "1319" "0" "1319" "0" "c.1319G>T" "r.(?)" "p.(Cys440Phe)" "" "0000525772" "00008497" "50" "1463" "0" "1463" "0" "c.1463C>T" "r.(?)" "p.(Ala488Val)" "" "0000525773" "00008497" "70" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Ala488=)" "" "0000525774" "00008497" "30" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(Ser491=)" "" "0000525775" "00008497" "30" "1483" "0" "1483" "0" "c.1483C>A" "r.(?)" "p.(Pro495Thr)" "" "0000525776" "00008497" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Val499Met)" "" "0000525778" "00008497" "10" "1735" "0" "1735" "0" "c.1735C>A" "r.(?)" "p.(Pro579Thr)" "" "0000609734" "00008497" "50" "409" "0" "409" "0" "c.409G>C" "r.(?)" "p.(Asp137His)" "" "0000651733" "00008497" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0000651734" "00008497" "10" "619" "-29" "619" "-29" "c.619-29C>T" "r.(=)" "p.(=)" "" "0000651735" "00008497" "50" "718" "0" "718" "0" "c.718T>C" "r.(?)" "p.(Tyr240His)" "" "0000651736" "00008497" "30" "1483" "0" "1483" "0" "c.1483C>A" "r.(?)" "p.(Pro495Thr)" "" "0000651737" "00008497" "30" "3851" "0" "3851" "0" "c.*1934T>C" "r.(=)" "p.(=)" "" "0000653532" "00008497" "50" "151" "0" "151" "0" "c.151C>G" "r.(?)" "p.(Pro51Ala)" "" "0000669853" "00008497" "10" "619" "-29" "619" "-29" "c.619-29C>T" "r.(=)" "p.(=)" "" "0000677519" "00008497" "50" "1276" "0" "1276" "0" "c.1276C>G" "r.(?)" "p.(Leu426Val)" "" "0000720442" "00008497" "50" "137" "0" "137" "0" "c.137A>T" "r.(?)" "p.(Asn46Ile)" "" "0000720443" "00008497" "90" "192" "0" "193" "0" "c.192_193del" "r.(?)" "p.(Ser65MetfsTer6)" "" "0000720444" "00008497" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0000720445" "00008497" "70" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Cys)" "" "0000720446" "00008497" "30" "876" "-15" "876" "-15" "c.876-15T>G" "r.(=)" "p.(=)" "" "0000720447" "00008497" "30" "1205" "0" "1205" "0" "c.1205A>T" "r.(?)" "p.(Asn402Ile)" "" "0000802119" "00008497" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0000850924" "00008497" "50" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(His329Tyr)" "" "0000859946" "00008497" "50" "-11" "-1" "-11" "-1" "c.-11-1G>C" "r.spl?" "p.?" "" "0000859947" "00008497" "30" "-8" "0" "-8" "0" "c.-8C>G" "r.(?)" "p.(=)" "" "0000859948" "00008497" "50" "5" "0" "5" "0" "c.5A>T" "r.(?)" "p.(Asp2Val)" "" "0000859949" "00008497" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Leu7=)" "" "0000859950" "00008497" "90" "168" "0" "168" "0" "c.168C>A" "r.(?)" "p.(Cys56*)" "" "0000859951" "00008497" "50" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Glu60Gln)" "" "0000859952" "00008497" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Thr69Ile)" "" "0000859953" "00008497" "30" "273" "0" "273" "0" "c.273T>A" "r.(?)" "p.(Thr91=)" "" "0000859954" "00008497" "90" "344" "0" "344" "0" "c.344A>C" "r.(?)" "p.(Asn115Thr)" "" "0000859955" "00008497" "30" "411" "0" "411" "0" "c.411T>A" "r.(?)" "p.(Asp137Glu)" "" "0000859956" "00008497" "50" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179His)" "" "0000859957" "00008497" "50" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Val217Ala)" "" "0000859958" "00008497" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" "0000859959" "00008497" "30" "785" "-9" "785" "-9" "c.785-9G>A" "r.(=)" "p.(=)" "" "0000859960" "00008497" "50" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Gln290=)" "" "0000859961" "00008497" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ile309=)" "" "0000859962" "00008497" "30" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Asn323Ser)" "" "0000859963" "00008497" "30" "1098" "0" "1098" "0" "c.1098A>G" "r.(?)" "p.(Leu366=)" "" "0000859964" "00008497" "30" "1110" "0" "1110" "0" "c.1110T>A" "r.(?)" "p.(His370Gln)" "" "0000859965" "00008497" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0000859966" "00008497" "50" "1327" "0" "1327" "0" "c.1327A>T" "r.(?)" "p.(Thr443Ser)" "" "0000859967" "00008497" "50" "1432" "0" "1432" "0" "c.1432C>G" "r.(?)" "p.(Pro478Ala)" "" "0000859968" "00008497" "70" "1511" "0" "1511" "0" "c.1511dup" "r.(?)" "p.(Gln505Profs*4)" "" "0000859969" "00008497" "50" "1720" "0" "1720" "0" "c.1720A>G" "r.(?)" "p.(Thr574Ala)" "" "0000859970" "00008497" "50" "1859" "0" "1859" "0" "c.1859A>C" "r.(?)" "p.(Glu620Ala)" "" "0000878322" "00008497" "50" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Val500Ile)" "" "0000886871" "00008497" "30" "-12" "1088" "-12" "1088" "c.-12+1088C>G" "r.(=)" "p.(=)" "" "0000886872" "00008497" "50" "176" "0" "176" "0" "c.176C>T" "r.(?)" "p.(Pro59Leu)" "" "0000886873" "00008497" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Ile)" "" "0000886874" "00008497" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Val162Ile)" "" "0000886875" "00008497" "50" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Arg229His)" "" "0000886877" "00008497" "50" "726" "0" "726" "0" "c.726G>C" "r.(?)" "p.(Glu242Asp)" "" "0000886878" "00008497" "30" "875" "10" "875" "10" "c.875+10G>C" "r.(=)" "p.(=)" "" "0000886879" "00008497" "30" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Asn430Asp)" "" "0000886880" "00008497" "50" "1331" "0" "1331" "0" "c.1331A>T" "r.(?)" "p.(Gln444Leu)" "" "0000886881" "00008497" "30" "1383" "0" "1383" "0" "c.1383T>G" "r.(?)" "p.(Thr461=)" "" "0000886882" "00008497" "50" "1517" "0" "1517" "0" "c.1517A>T" "r.(?)" "p.(Lys506Met)" "" "0000912344" "00008497" "30" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Glu50=)" "" "0000912345" "00008497" "30" "239" "0" "239" "0" "c.239G>T" "r.(?)" "p.(Gly80Val)" "" "0000912346" "00008497" "30" "439" "9" "439" "9" "c.439+9C>T" "r.(=)" "p.(=)" "" "0000912347" "00008497" "30" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "" "0000912348" "00008497" "30" "1542" "0" "1542" "0" "c.1542T>G" "r.(?)" "p.(Cys514Trp)" "" "0000912349" "00008497" "30" "1666" "0" "1666" "0" "c.1666A>T" "r.(?)" "p.(Ile556Leu)" "" "0000924351" "00008497" "30" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Val136Leu)" "" "0000924352" "00008497" "50" "504" "0" "504" "0" "c.504T>G" "r.(?)" "p.(His168Gln)" "" "0000924353" "00008497" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0000924354" "00008497" "30" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Leu190=)" "" "0000924355" "00008497" "50" "814" "0" "814" "0" "c.814A>G" "r.(?)" "p.(Ile272Val)" "" "0000924356" "00008497" "50" "876" "-8" "876" "-8" "c.876-8T>G" "r.(=)" "p.(=)" "" "0000929085" "00008497" "10" "99" "0" "99" "0" "c.99C>G" "r.(?)" "p.(=)" "" "0000963622" "00008497" "30" "-12" "646" "-12" "646" "c.-12+646A>T" "r.(=)" "p.(=)" "" "0000963623" "00008497" "50" "530" "0" "530" "0" "c.530C>A" "r.(?)" "p.(Ala177Glu)" "" "0000963625" "00008497" "50" "1489" "0" "1489" "0" "c.1489G>A" "r.(?)" "p.(Gly497Ser)" "" "0000976803" "00008497" "50" "685" "0" "685" "0" "c.685C>A" "r.(?)" "p.(Arg229Ser)" "" "0000976804" "00008497" "30" "946" "-9" "946" "-9" "c.946-9A>G" "r.(=)" "p.(=)" "" "0000995061" "00008497" "30" "-12" "648" "-12" "648" "c.-12+648G>A" "r.(=)" "p.(=)" "" "0000995062" "00008497" "50" "25" "0" "25" "0" "c.25A>T" "r.(?)" "p.(Thr9Ser)" "" "0000995063" "00008497" "50" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Arg57His)" "" "0000995064" "00008497" "50" "186" "0" "187" "0" "c.186_187del" "r.(?)" "p.(Glu62Aspfs*9)" "" "0000995065" "00008497" "50" "374" "0" "374" "0" "c.374A>T" "r.(?)" "p.(Tyr125Phe)" "" "0000995066" "00008497" "30" "658" "0" "658" "0" "c.658T>C" "r.(?)" "p.(=)" "" "0000995067" "00008497" "50" "875" "3" "875" "39" "c.875+3_875+39del" "r.spl?" "p.?" "" "0000995068" "00008497" "30" "989" "0" "989" "0" "c.989A>T" "r.(?)" "p.(Asp330Val)" "" "0000995069" "00008497" "30" "1536" "0" "1536" "0" "c.1536C>T" "r.(?)" "p.(=)" "" "0000995070" "00008497" "50" "1601" "0" "1601" "0" "c.1601A>G" "r.(?)" "p.(Tyr534Cys)" "" "0001014130" "00008497" "30" "-12" "662" "-12" "662" "c.-12+662G>A" "r.(=)" "p.(=)" "" "0001014131" "00008497" "30" "42" "0" "42" "0" "c.42A>G" "r.(?)" "p.(=)" "" "0001014132" "00008497" "30" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Ser255Asn)" "" "0001014133" "00008497" "50" "1432" "0" "1432" "0" "c.1432C>G" "r.(?)" "p.(Pro478Ala)" "" "0001025109" "00008497" "50" "700" "0" "700" "0" "c.700C>G" "r.(?)" "p.(Gln234Glu)" "" "0001025110" "00008497" "50" "1144" "0" "1144" "0" "c.1144G>T" "r.(?)" "p.(Gly382Cys)" "" "0001035231" "00008497" "50" "-10" "0" "-10" "0" "c.-10T>C" "r.(?)" "p.(=)" "" "0001035232" "00008497" "50" "876" "0" "876" "0" "c.876G>T" "r.(?)" "p.(Arg292Ser)" "" "0001035233" "00008497" "50" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(His555Tyr)" "" "0001035234" "00008497" "90" "1684" "0" "1684" "0" "c.1684C>T" "r.(?)" "p.(Gln562*)" "" "0001046030" "00008497" "50" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Cys)" "" "0001046031" "00008497" "50" "1873" "0" "1873" "0" "c.1873T>C" "r.(?)" "p.(Cys625Arg)" "" "0001048702" "00008497" "70" "876" "-8" "876" "-8" "c.876-8T>C" "r.(?)" "p.(?)" "" "0001051961" "00008497" "50" "544" "0" "544" "0" "c.544G>C" "r.(?)" "p.(Asp182His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 109 "{{screeningid}}" "{{variantid}}" "0000079806" "0000128589" "0000079806" "0000128744" "0000079815" "0000128598" "0000079815" "0000128749" "0000079816" "0000128599" "0000079816" "0000128750" "0000079817" "0000128600" "0000079818" "0000128601" "0000079818" "0000128751" "0000079819" "0000128602" "0000079819" "0000128752" "0000079820" "0000128603" "0000079820" "0000128753" "0000079844" "0000128627" "0000079844" "0000128768" "0000079849" "0000128632" "0000079850" "0000128633" "0000079850" "0000128770" "0000079851" "0000128634" "0000079851" "0000128771" "0000079852" "0000128635" "0000079853" "0000128636" "0000079854" "0000128637" "0000079854" "0000128772" "0000079856" "0000128639" "0000079856" "0000128774" "0000079857" "0000128640" "0000079857" "0000128775" "0000079858" "0000128641" "0000079858" "0000128776" "0000079859" "0000128642" "0000079859" "0000128777" "0000079860" "0000128643" "0000079860" "0000128778" "0000079861" "0000128644" "0000079861" "0000128779" "0000079862" "0000128645" "0000079862" "0000128780" "0000079863" "0000128646" "0000079863" "0000128781" "0000079864" "0000128647" "0000079864" "0000128782" "0000079865" "0000128648" "0000079865" "0000128783" "0000079866" "0000128649" "0000079866" "0000128784" "0000079867" "0000128650" "0000079867" "0000128785" "0000079885" "0000128668" "0000079886" "0000128669" "0000079887" "0000128670" "0000079888" "0000128671" "0000079888" "0000128787" "0000079889" "0000128672" "0000079889" "0000128788" "0000079890" "0000128673" "0000079890" "0000128789" "0000079891" "0000128674" "0000079891" "0000128790" "0000079892" "0000128675" "0000079892" "0000128791" "0000079893" "0000128676" "0000079893" "0000128792" "0000079894" "0000128677" "0000079894" "0000128793" "0000079895" "0000128678" "0000079895" "0000128794" "0000079896" "0000128679" "0000079896" "0000128795" "0000079897" "0000128680" "0000079897" "0000128796" "0000079898" "0000128681" "0000079898" "0000128797" "0000079898" "0000128798" "0000079898" "0000128799" "0000079899" "0000128682" "0000079899" "0000128800" "0000079900" "0000128683" "0000079900" "0000128801" "0000079901" "0000128684" "0000079902" "0000128685" "0000079903" "0000128686" "0000079904" "0000128687" "0000079905" "0000128688" "0000079906" "0000128689" "0000079907" "0000128690" "0000079908" "0000128691" "0000079909" "0000128692" "0000079910" "0000128693" "0000079911" "0000128694" "0000079912" "0000128695" "0000079913" "0000128696" "0000079914" "0000128697" "0000079915" "0000128698" "0000079916" "0000128699" "0000079917" "0000128700" "0000079937" "0000128720" "0000079938" "0000128721" "0000079939" "0000128722" "0000079942" "0000128725" "0000079942" "0000128803" "0000080866" "0000129924" "0000295044" "0000651733" "0000295045" "0000651734" "0000295046" "0000651735" "0000295047" "0000651736" "0000295048" "0000651737" "0000296818" "0000653532" "0000306165" "0000669853"