### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LHX3) # 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}}" "LHX3" "LIM homeobox 3" "9" "q34.3" "unknown" "NG_008097.1" "UD_132118714121" "" "https://www.LOVD.nl/LHX3" "" "1" "6595" "8022" "600577" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LHX3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-22 15:47:58" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025783" "LHX3" "transcript variant 1" "001" "NM_178138.4" "" "NP_835258.1" "" "" "" "-97" "2269" "1194" "139096955" "139088096" "00006" "2022-12-22 15:46:27" "" "" "00025786" "LHX3" "transcript variant 2" "002" "NM_014564.3" "" "NP_055379.1" "" "" "" "-119" "2284" "1209" "139095004" "139088096" "00006" "2022-12-22 19:08:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01748" "CPHD3" "hormone deficiency, pituitary, combined, type 3" "AR" "221750" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2022-12-22 16:34:37" "06987" "CPHD" "hormone deficiency, pituitary, combined" "" "" "" "" "" "00006" "2022-12-22 15:47:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LHX3" "01748" "LHX3" "06987" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00163928" "" "" "" "1" "" "02460" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "2-generation family, 1 affected, unaffected carrier mother" "M" "?" "Italy" "" "0" "" "" "" "FamAPatA" "00163929" "" "" "" "1" "" "02460" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Iran" "" "0" "" "" "" "FamBPatB" "00163930" "" "" "" "1" "" "02460" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "M" "?" "Argentina" "" "0" "" "" "" "PatC" "00294805" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00428195" "" "" "" "3" "" "00006" "{PMID:Netchine 2000:10835633}, {PMID:Rajab 2008:18407919} (phenotype update)" "2-generation family, 3 affected (2 sisters, brother), unaffected heterozygous carrier parents" "F;M" "yes" "France" "" "0" "" "" "" "FamAPatII1/2/4" "00428196" "" "" "" "1" "" "00006" "{PMID:Netchine 2000:10835633}, {PMID:Rajab 2008:18407919} (phenotype update)" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "" "FamBPatII1" "00428197" "" "" "" "1" "" "00006" "{PMID:Bhangoo 2006:10835633}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "United States" "" "0" "" "" "" "patient" "00428198" "" "" "" "2" "" "00006" "{PMID:Pfaeffle 2007:17327381}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "India" "" "0" "" "" "" "FamAPatA1" "00428199" "" "" "00428198" "1" "" "00006" "{PMID:Pfaeffle 2007:17327381}" "sister" "F" "yes" "India" "" "0" "" "" "" "FamAPatA2" "00428200" "" "" "" "1" "" "00006" "{PMID:Pfaeffle 2007:17327381}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Morocco" "" "0" "" "" "" "FamBPatB1" "00428201" "" "" "" "1" "" "00006" "{PMID:Pfaeffle 2007:17327381}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Algeria" "" "0" "" "" "" "FamCPatC1" "00428202" "" "" "" "3" "" "00006" "{PMID:Pfaeffle 2007:17327381}" "2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Lebanon" "" "0" "" "" "" "FamDPatD1" "00428203" "" "" "00428202" "1" "" "00006" "{PMID:Pfaeffle 2007:17327381}" "sister" "F" "yes" "Lebanon" "" "0" "" "" "" "FamDPatD2" "00428204" "" "" "00428202" "1" "" "00006" "{PMID:Pfaeffle 2007:17327381}" "sister" "F" "yes" "Lebanon" "" "0" "" "" "" "FamDPatD3" "00428205" "" "" "" "3" "" "00006" "{PMID:Rajab 2008:18407919}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Oman" "" "0" "" "" "" "Fam1PatIV1" "00428206" "" "" "00428205" "1" "" "00006" "{PMID:Rajab 2008:18407919}" "sister" "F" "yes" "Oman" "" "0" "" "" "" "Fam1PatIV4" "00428207" "" "" "00428205" "1" "" "00006" "{PMID:Rajab 2008:18407919}" "brother" "M" "yes" "Oman" "" "0" "" "" "" "Fam1PatIV5" "00428208" "" "" "" "1" "" "00006" "{PMID:Rajab 2008:18407919}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Oman" "" "0" "" "" "" "Fam2PatII1" "00428209" "" "" "" "6" "" "00006" "{PMID:Kristrom 2009:19126629}" "14-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives" "M" "" "Sweden" "" "0" "" "" "" "FamPat1" "00428210" "" "" "00428209" "1" "" "00006" "{PMID:Kristrom 2009:19126629}" "distant relative" "F" "" "Sweden" "" "0" "" "" "" "FamPat2" "00428211" "" "" "00428209" "1" "" "00006" "{PMID:Kristrom 2009:19126629}" "distant relative" "M" "" "Sweden" "" "0" "" "" "" "FamPat3" "00428212" "" "" "00428209" "1" "" "00006" "{PMID:Kristrom 2009:19126629}" "distant relative" "M" "" "Sweden" "" "0" "" "" "" "FamPat4" "00428213" "" "" "00428209" "1" "" "00006" "{PMID:Kristrom 2009:19126629}" "distant relative" "M" "" "Sweden" "" "0" "" "" "" "FamPat5" "00428214" "" "" "00428209" "1" "" "00006" "{PMID:Kristrom 2009:19126629}" "distant relative" "M" "" "Sweden" "" "0" "" "" "" "FamPat6" "00428215" "" "" "" "1" "" "00006" "{PMID:Bonfig 2011:21249393}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00163928" "01748" "00163929" "01748" "00163930" "01748" "00294805" "00198" "00428195" "06987" "00428196" "06987" "00428197" "06987" "00428198" "06987" "00428199" "06987" "00428200" "06987" "00428201" "06987" "00428202" "06987" "00428203" "06987" "00428204" "06987" "00428205" "06987" "00428206" "06987" "00428207" "06987" "00428208" "06987" "00428209" "06987" "00428210" "06987" "00428211" "06987" "00428212" "06987" "00428213" "06987" "00428214" "06987" "00428215" "06987" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01748, 06987 ## Count = 24 "{{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}}" "0000129038" "01748" "00163929" "02460" "Familial, autosomal recessive" "02y" "neonatal panhypopituitarism, ACTH deficiency, TSH deficiency, GH deficiency; retinal dystrophy, low-set ears; MRI brain cystic anterior pituitary, corpus callosum digenesis" "" "" "" "" "" "" "" "" "CPHD3" "neonatal panhypopituitarism" "" "0000129039" "01748" "00163930" "02460" "Unknown" "03y" "neonatal panhypopituitarism, ACTH deficiency, microcephaly, micropenis; birth no hypoglycemia; 2y-GH deficiency; 3y-TSH deficiency; MRI brain anterior pituitary hypoplasia, thin pituitary stalk, non-visualized posterior pituitary" "" "" "" "" "" "" "" "" "" "neonatal panhypopituitarism" "" "0000129040" "01748" "00163928" "02460" "Unknown" "" "neonatal panhypopituitarism, micropenis, ACTH deficiency, TSH deficiency, GH deficiency; MRI brain normal, no malformations; carrier mother 40y-normal pituitary evaluation" "" "02y" "" "" "" "" "" "" "" "" "" "0000319107" "06987" "00428195" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe growth retardation, complete deficit in all but one (ACTH) anterior pituitary hormone, elevated/anteverted shoulders, stubby neck, severe restriction of rotation cervical spine; II1 moderate (60 dB), II4 mild (30 dB) sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "growth retardation" "" "0000319108" "06987" "00428196" "00006" "Familial, autosomal recessive" "" "see paper; ..., 1d-micropenis, cryptorchidism; severe growth retardation, complete deficit in all but one (ACTH) anterior pituitary hormone, elevated/anteverted shoulders, stubby neck, severe restriction of rotation cervical spine; extreme mental retardation; deaf, no acoustic evoked potential" "" "" "" "" "" "" "" "" "" "growth retardation" "" "0000319109" "06987" "00428197" "00006" "Familial, autosomal recessive" "06y09m" "see paper; ..., cyanosis, feeding difficulty, persistent jaundice, micropenis, poor weight\r\ngain, poor growth rate" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormonal deficiency" "" "0000319110" "06987" "00428198" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3000g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary enlarged" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormonal deficiency" "" "0000319111" "06987" "00428199" "00006" "Familial, autosomal recessive" "" "see paper; ..., frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary enlarged" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormonal deficiency" "" "0000319112" "06987" "00428200" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3400g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary hypoplastic" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormonal deficiency" "" "0000319113" "06987" "00428201" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3250g, hypoglycemia, muscular hypotonia, frontal bossing, depressed nasal bridge, neck rigidity, MRI brain pituitary hypoplastic" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormonal deficiency" "" "0000319114" "06987" "00428202" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 4000g; 9y-secondary hypothyroidism; no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, MRI brain pituitary normal" "" "09y" "" "" "" "" "" "" "CPHD3" "growth failure" "" "0000319115" "06987" "00428203" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3500g; 8y-secondary hypothyroidism; no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity, MRI brain pituitary normal" "" "08y" "" "" "" "" "" "" "CPHD3" "growth failure" "" "0000319116" "06987" "00428204" "00006" "Familial, autosomal recessive" "" "see paper; ..., no hypoglycemia, no muscular hypotonia, no frontal bossing, no depressed nasal bridge, no neck rigidity," "" "" "" "" "" "" "" "" "CPHD3" "growth failure" "" "0000319117" "06987" "00428205" "00006" "Familial, autosomal recessive" "" "see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319118" "06987" "00428206" "00006" "Familial, autosomal recessive" "" "see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319119" "06987" "00428207" "00006" "Familial, autosomal recessive" "" "see paper; ..., panhypopituitarism, severe anterior pituitary hypoplasia, skeletal abnormalities, hyperextensible joints, loose skin, sensorineural hearing loss" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319120" "06987" "00428208" "00006" "Familial, autosomal recessive" "" "see paper; ..., combined pituitary hormone deficiency, pituitary/skeletal abnormalities, sensorineural deafness" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319121" "06987" "00428209" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 34w, vaginal induction due to Rh-immunization, weight 2460g, length 46cm; no congenital hip subluxation; myopia; 9y-scoliosis; 18y-scoliosis surgery; iritis recidiv (Posner-Schlossman syndrome), ersistent ductus arteriosus( 9y-surgery); deficient in GH, prolactin, TSH, FSH, and LH" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319122" "06987" "00428210" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 41w+2, vaginal induction, weight 3250g, length 47cm; congenital hip subluxation; myopia; 7y-scoliosis; 11y-scoliosis surgery; persistent ductus arteriosus, pulmonary stenosis (spontaneous recovered); deficient in GH, prolactin, TSH, FSH, and LH" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319123" "06987" "00428211" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 41w+1, partus normalis, weight 3410g, length 47cm; no congenital hip subluxation; no myopia; 5y-scoliosis; deficient in GH, prolactin, TSH, FSH, and LH" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319124" "06987" "00428212" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 42w, weight 3660g, length 49cm; congenital hip subluxation; myopia; 7y-scoliosis; 12y-scoliosis surgery; asthma bronchiale; deficient in GH, prolactin, TSH, FSH, and LH" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319125" "06987" "00428213" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 42w+6, vaginal induction, weight 3680g, length 51cm; no congenital hip subluxation; no myopia; 6y-scoliosis; deficient in GH, prolactin, TSH, FSH, and LH" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319126" "06987" "00428214" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 37w+6, sectio due to bradycardia, weight 3044g, length 45cm; no congenital hip subluxation; deficient in GH, prolactin, TSH, FSH, and LH" "" "" "" "" "" "" "" "" "CPHD3" "combined pituitary hormone deficiency" "" "0000319127" "06987" "00428215" "00006" "Familial, autosomal recessive" "01y06m" "see paper; ..., birth 39w, weight 3,930g, length 50cm respectively, short neck with limited rotation; 4d-respiratory failure, mechanical ventilation; <1w-recurrent hypoglycemia, normal ACTH, normal cortisol, growth hormone undetectable, IGF-1/IGF-BP3 below the detection; sensorineural hearing loss" "" "" "" "" "" "" "" "" "CPHD3" "hypoglycemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000164791" "00163928" "1" "02460" "02460" "2018-04-25 11:31:02" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000164792" "00163929" "1" "02460" "02460" "2018-04-25 11:55:18" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000164793" "00163930" "1" "02460" "02460" "2018-04-25 12:01:01" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000295973" "00294805" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000429606" "00428195" "1" "00006" "00006" "2022-12-23 15:31:22" "" "" "SEQ" "DNA" "" "" "0000429607" "00428196" "1" "00006" "00006" "2022-12-23 15:38:39" "" "" "SEQ" "DNA" "" "" "0000429608" "00428197" "1" "00006" "00006" "2022-12-23 15:56:53" "" "" "SEQ" "DNA" "" "" "0000429609" "00428198" "1" "00006" "00006" "2022-12-23 16:19:49" "00006" "2022-12-23 16:27:58" "DHPLC;SEQ" "DNA" "" "" "0000429610" "00428199" "1" "00006" "00006" "2022-12-23 16:26:51" "" "" "DHPLC;SEQ" "DNA" "" "" "0000429611" "00428200" "1" "00006" "00006" "2022-12-23 16:30:17" "" "" "DHPLC;SEQ" "DNA" "" "" "0000429612" "00428201" "1" "00006" "00006" "2022-12-23 16:38:11" "" "" "DGGE;SEQ" "DNA" "" "" "0000429613" "00428202" "1" "00006" "00006" "2022-12-24 10:04:34" "" "" "DHPLC;SEQ" "DNA" "" "" "0000429614" "00428203" "1" "00006" "00006" "2022-12-24 10:04:34" "" "" "DHPLC;SEQ" "DNA" "" "" "0000429615" "00428204" "1" "00006" "00006" "2022-12-24 10:04:34" "" "" "DHPLC;SEQ" "DNA" "" "" "0000429616" "00428205" "1" "00006" "00006" "2022-12-24 10:52:00" "" "" "SEQ" "DNA" "" "" "0000429617" "00428206" "1" "00006" "00006" "2022-12-24 10:52:00" "" "" "SEQ" "DNA" "" "" "0000429618" "00428207" "1" "00006" "00006" "2022-12-24 10:52:00" "" "" "SEQ" "DNA" "" "" "0000429619" "00428208" "1" "00006" "00006" "2022-12-24 10:52:00" "" "" "SEQ" "DNA" "" "" "0000429620" "00428209" "1" "00006" "00006" "2022-12-24 13:04:53" "" "" "SEQ" "DNA" "" "" "0000429621" "00428210" "1" "00006" "00006" "2022-12-24 13:04:53" "" "" "SEQ" "DNA" "" "" "0000429622" "00428211" "1" "00006" "00006" "2022-12-24 13:04:53" "" "" "SEQ" "DNA" "" "" "0000429623" "00428212" "1" "00006" "00006" "2022-12-24 13:04:53" "" "" "SEQ" "DNA" "" "" "0000429624" "00428213" "1" "00006" "00006" "2022-12-24 13:04:53" "" "" "SEQ" "DNA" "" "" "0000429625" "00428214" "1" "00006" "00006" "2022-12-24 13:04:53" "" "" "SEQ" "DNA" "" "" "0000429626" "00428215" "1" "00006" "00006" "2022-12-24 13:43:32" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000164791" "LHX3" "0000164792" "LHX3" "0000164793" "LHX3" "0000429606" "LHX3" "0000429607" "LHX3" "0000429608" "LHX3" "0000429609" "LHX3" "0000429610" "LHX3" "0000429611" "LHX3" "0000429612" "LHX3" "0000429613" "LHX3" "0000429614" "LHX3" "0000429615" "LHX3" "0000429616" "LHX3" "0000429617" "LHX3" "0000429618" "LHX3" "0000429619" "LHX3" "0000429620" "LHX3" "0000429621" "LHX3" "0000429622" "LHX3" "0000429623" "LHX3" "0000429624" "LHX3" "0000429625" "LHX3" "0000429626" "LHX3" ## 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 = 64 "{{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}}" "0000279076" "0" "10" "9" "139092571" "139092571" "subst" "0.0112574" "02330" "LHX3_000005" "g.139092571C>T" "" "" "" "LHX3(NM_014564.5):c.123G>A (p.Q41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136200725C>T" "" "benign" "" "0000279077" "0" "10" "9" "139096838" "139096838" "subst" "0.000489426" "02330" "LHX3_000008" "g.139096838G>C" "" "" "" "LHX3(NM_178138.6):c.21C>G (p.L7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136204992G>C" "" "benign" "" "0000279078" "0" "10" "9" "139091521" "139091521" "subst" "0.0155625" "02330" "LHX3_000004" "g.139091521G>A" "" "" "" "LHX3(NM_014564.3):c.469+3C>T (p.?), LHX3(NM_014564.5):c.469+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136199675G>A" "" "benign" "" "0000279079" "0" "30" "9" "139089569" "139089569" "subst" "0" "02330" "LHX3_000003" "g.139089569T>A" "" "" "" "LHX3(NM_014564.5):c.811A>T (p.M271L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136197723T>A" "" "likely benign" "" "0000279080" "0" "10" "9" "139094805" "139094805" "subst" "0.252831" "02330" "LHX3_000006" "g.139094805C>T" "" "" "" "LHX3(NM_014564.5):c.81G>A (p.A27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136202959C>T" "" "benign" "" "0000279081" "0" "30" "9" "139089445" "139089445" "subst" "0.000677034" "02330" "LHX3_000002" "g.139089445C>G" "" "" "" "LHX3(NM_014564.5):c.935G>C (p.R312P), LHX3(NM_178138.6):c.920G>C (p.(Arg307Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136197599C>G" "" "likely benign" "" "0000279082" "0" "50" "9" "139089436" "139089436" "subst" "0.000655346" "02330" "LHX3_000001" "g.139089436C>G" "" "" "" "LHX3(NM_014564.4):c.944G>C (p.R315P), LHX3(NM_014564.5):c.944G>C (p.R315P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136197590C>G" "" "VUS" "" "0000290975" "0" "50" "9" "139094845" "139094845" "subst" "0" "01943" "LHX3_000007" "g.139094845G>A" "" "" "" "LHX3(NM_014564.4):c.41C>T (p.A14V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136202999G>A" "" "VUS" "" "0000332903" "0" "30" "9" "139101101" "139101101" "subst" "0.00430982" "01804" "QSOX2_000001" "g.139101101G>A" "" "" "" "QSOX2(NM_181701.3):c.1570C>T (p.(Arg524Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209255G>A" "" "likely benign" "" "0000368401" "21" "70" "9" "139090773" "139090773" "subst" "0" "02460" "LHX3_000009" "g.139090773A>G" "" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "" "" "Germline" "" "" "0" "" "" "g.136198927A>G" "" "likely pathogenic" "" "0000368402" "3" "70" "9" "139090651" "139090651" "subst" "0" "02460" "LHX3_000010" "g.139090651G>C" "" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "" "" "Germline" "" "" "0" "" "" "g.136198805G>C" "" "likely pathogenic" "" "0000368403" "0" "50" "9" "139089436" "139089436" "subst" "0.000655346" "02460" "LHX3_000001" "g.139089436C>G" "" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "" "" "Germline" "?" "" "0" "" "" "g.136197590C>G" "" "VUS" "" "0000537142" "0" "50" "9" "139089190" "139089190" "subst" "8.29628E-6" "02330" "LHX3_000011" "g.139089190A>G" "" "" "" "LHX3(NM_014564.3):c.1190T>C (p.(Val397Ala)), LHX3(NM_014564.5):c.1190T>C (p.V397A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136197344A>G" "" "VUS" "" "0000537143" "0" "30" "9" "139091521" "139091521" "subst" "0.0155625" "01804" "LHX3_000004" "g.139091521G>A" "" "" "" "LHX3(NM_014564.3):c.469+3C>T (p.?), LHX3(NM_014564.5):c.469+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136199675G>A" "" "likely benign" "" "0000537144" "0" "10" "9" "139094773" "139094773" "subst" "0.665102" "02330" "LHX3_000012" "g.139094773A>G" "" "" "" "LHX3(NM_014564.5):c.94+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136202927A>G" "" "benign" "" "0000537145" "0" "30" "9" "139094845" "139094845" "subst" "0.00101038" "02330" "LHX3_000013" "g.139094845G>C" "" "" "" "LHX3(NM_014564.5):c.41C>G (p.A14G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136202999G>C" "" "likely benign" "" "0000537146" "0" "30" "9" "139094878" "139094878" "subst" "0.000783811" "01804" "LHX3_000014" "g.139094878G>A" "" "" "" "LHX3(NM_014564.3):c.8C>T (p.(Ala3Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136203032G>A" "" "likely benign" "" "0000537147" "0" "10" "9" "139096808" "139096808" "subst" "0" "02330" "LHX3_000015" "g.139096808G>A" "" "" "" "LHX3(NM_178138.6):c.51C>T (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136204962G>A" "" "benign" "" "0000611983" "0" "50" "9" "139089291" "139089291" "subst" "0" "01804" "LHX3_000016" "g.139089291C>T" "" "" "" "LHX3(NM_014564.3):c.1089G>A (p.(Met363Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136197445C>T" "" "VUS" "" "0000611984" "0" "50" "9" "139089553" "139089553" "subst" "3.9407E-5" "01804" "LHX3_000017" "g.139089553C>T" "" "" "" "LHX3(NM_014564.3):c.827G>A (p.(Gly276Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136197707C>T" "" "VUS" "" "0000611985" "0" "30" "9" "139091730" "139091730" "subst" "0.000400527" "02330" "LHX3_000018" "g.139091730C>A" "" "" "" "LHX3(NM_014564.5):c.267-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136199884C>A" "" "likely benign" "" "0000652662" "1" "50" "9" "139091521" "139091521" "subst" "0.0155625" "03575" "LHX3_000004" "g.139091521G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs34356735}" "Germline" "" "rs34356735" "0" "" "" "g.136199675G>A" "" "VUS" "" "0000656287" "0" "10" "9" "139090883" "139090883" "subst" "4.06876E-5" "02330" "LHX3_000019" "g.139090883C>T" "" "" "" "LHX3(NM_001363746.1):c.444G>A (p.R148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136199037C>T" "" "benign" "" "0000678589" "0" "50" "9" "139089436" "139089436" "subst" "0.000655346" "01943" "LHX3_000001" "g.139089436C>G" "" "" "" "LHX3(NM_014564.4):c.944G>C (p.R315P), LHX3(NM_014564.5):c.944G>C (p.R315P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722383" "0" "50" "9" "139089436" "139089436" "subst" "0.000655346" "02329" "LHX3_000001" "g.139089436C>G" "" "" "" "LHX3(NM_014564.4):c.944G>C (p.R315P), LHX3(NM_014564.5):c.944G>C (p.R315P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803978" "0" "10" "9" "139091615" "139091615" "subst" "0" "02330" "LHX3_000020" "g.139091615G>A" "" "" "" "LHX3(NM_001363746.1):c.330C>T (p.C110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852175" "0" "30" "9" "139089178" "139089178" "subst" "4.14769E-6" "01804" "LHX3_000021" "g.139089178T>G" "" "" "" "LHX3(NM_014564.3):c.1202A>C (p.(Gln401Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888724" "0" "30" "9" "139089562" "139089562" "subst" "5.71002E-5" "01804" "LHX3_000022" "g.139089562G>A" "" "" "" "LHX3(NM_014564.3):c.818C>T (p.(Pro273Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888725" "0" "30" "9" "139090901" "139090901" "subst" "0" "02330" "LHX3_000023" "g.139090901G>A" "" "" "" "LHX3(NM_001363746.1):c.426C>T (p.A142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909146" "0" "10" "9" "139094773" "139094773" "subst" "0.665102" "00006" "LHX3_000012" "g.139094773A>G" "" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "" "" "Germline" "" "rs2274115" "0" "" "" "" "" "benign" "" "0000909147" "0" "10" "9" "139094805" "139094805" "subst" "0.252831" "00006" "LHX3_000006" "g.139094805C>T" "" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "" "" "Germline" "" "rs2274116" "0" "" "" "" "" "benign" "" "0000909148" "3" "10" "9" "139094805" "139094805" "subst" "0.252831" "00006" "LHX3_000006" "g.139094805C>T" "" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "" "" "Germline" "" "rs2274116" "0" "" "" "" "" "benign" "" "0000909149" "3" "10" "9" "139094773" "139094773" "subst" "0.665102" "00006" "LHX3_000012" "g.139094773A>G" "" "{PMID:Jullien 2019:30262920}, {DOI:Jullien 2019:10.1038/s41431-018-0264-6}" "" "" "" "Germline" "" "rs2274115" "0" "" "" "" "" "benign" "" "0000909191" "3" "90" "9" "139091646" "139091646" "subst" "0" "00006" "LHX3_000024" "g.139091646T>C" "" "{PMID:Netchine 2000:10835633}" "" "" "" "Germline" "yes" "" "0" "" "" "g.136199800T>C" "" "pathogenic (recessive)" "" "0000909192" "3" "90" "9" "139091506" "139091528" "del" "0" "00006" "LHX3_000025" "g.139091506_139091528del" "" "{PMID:Netchine 2000:10835633}" "" "" "" "Germline" "" "" "0" "" "" "g.136199660_136199682del" "" "pathogenic (recessive)" "" "0000909193" "3" "90" "9" "139092583" "139092583" "del" "0" "00006" "LHX3_000026" "g.139092583del" "" "{PMID:Bhangoo 2006:10835633}" "" "g.159delT" "" "Germline" "" "" "0" "" "" "g.136200737del" "" "pathogenic (recessive)" "" "0000909194" "3" "90" "9" "139090644" "139090644" "subst" "0" "00006" "LHX3_000027" "g.139090644G>A" "" "{PMID:Pfaeffle 2007:17327381}" "" "A210V" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909195" "3" "90" "9" "139090644" "139090644" "subst" "0" "00006" "LHX3_000027" "g.139090644G>A" "" "{PMID:Pfaeffle 2007:17327381}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909196" "3" "90" "9" "139091690" "139091691" "delins" "0" "00006" "LHX3_000028" "g.139091690_139091691delinsAGGA" "" "{PMID:Pfaeffle 2007:17327381}" "" "E173ter" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000909197" "3" "90" "9" "139088096" "139095004" "del" "0" "00006" "LHX3_000029" "g.(?_139088096)_(139095004_?)del" "" "{PMID:Pfaeffle 2007:17327381}" "" "LHX3del" "D9S158, deleted, D9S182 and D9S905 not deleted" "Germline" "" "" "0" "" "" "g.(?_136196250)_(136203158_?)del" "" "pathogenic (recessive)" "" "0000909198" "3" "90" "9" "139090601" "139090601" "subst" "0" "00006" "LHX3_000030" "g.139090601C>T" "" "{PMID:Pfaeffle 2007:17327381}" "" "W224ter" "" "Germline" "yes" "" "0" "" "" "g.136198755C>T" "" "pathogenic (recessive)" "" "0000909199" "3" "90" "9" "139090601" "139090601" "subst" "0" "00006" "LHX3_000030" "g.139090601C>T" "" "{PMID:Pfaeffle 2007:17327381}" "" "W224ter" "" "Germline" "yes" "" "0" "" "" "g.136198755C>T" "" "pathogenic (recessive)" "" "0000909200" "3" "90" "9" "139090601" "139090601" "subst" "0" "00006" "LHX3_000030" "g.139090601C>T" "" "{PMID:Pfaeffle 2007:17327381}" "" "W224ter" "" "Germline" "yes" "" "0" "" "" "g.136198755C>T" "" "pathogenic (recessive)" "" "0000909201" "3" "90" "9" "139090048" "139093134" "del" "0" "00006" "LHX3_000031" "g.139090048_139093134del" "" "{PMID:Rajab 2008:18407919}" "" "80-532_775+454del3088" "" "Germline" "yes" "" "0" "" "" "g.136198202_136201288del" "" "pathogenic (recessive)" "" "0000909202" "3" "90" "9" "139090048" "139093134" "del" "0" "00006" "LHX3_000031" "g.139090048_139093134del" "" "{PMID:Rajab 2008:18407919}" "" "80-532_775+454del3088" "" "Germline" "yes" "" "0" "" "" "g.136198202_136201288del" "" "pathogenic (recessive)" "" "0000909203" "3" "90" "9" "139090048" "139093134" "del" "0" "00006" "LHX3_000031" "g.139090048_139093134del" "" "{PMID:Rajab 2008:18407919}" "" "80-532_775+454del3088" "" "Germline" "yes" "" "0" "" "" "g.136198202_136201288del" "" "pathogenic (recessive)" "" "0000909204" "3" "90" "9" "139092546" "139092546" "subst" "0" "00006" "LHX3_000032" "g.139092546T>A" "" "{PMID:Rajab 2008:18407919}" "" "267A>T (K50X)" "" "Germline" "" "" "0" "" "" "g.136200700T>A" "" "pathogenic (recessive)" "" "0000909205" "3" "90" "9" "139090907" "139090907" "subst" "3.87567E-5" "00006" "LHX3_000034" "g.139090907T>C" "" "{PMID:Kristrom 2009:19126629}" "" "IVS3 A>G splice acceptor" "" "Germline" "yes" "" "0" "" "" "g.136199061T>C" "" "pathogenic (recessive)" "" "0000909206" "3" "90" "9" "139090907" "139090907" "subst" "3.87567E-5" "00006" "LHX3_000034" "g.139090907T>C" "" "{PMID:Kristrom 2009:19126629}" "" "IVS3 A>G splice acceptor" "" "Germline" "yes" "" "0" "" "" "g.136199061T>C" "" "pathogenic (recessive)" "" "0000909207" "3" "90" "9" "139090907" "139090907" "subst" "3.87567E-5" "00006" "LHX3_000034" "g.139090907T>C" "" "{PMID:Kristrom 2009:19126629}" "" "IVS3 A>G splice acceptor" "" "Germline" "yes" "" "0" "" "" "g.136199061T>C" "" "pathogenic (recessive)" "" "0000909208" "3" "90" "9" "139090907" "139090907" "subst" "3.87567E-5" "00006" "LHX3_000034" "g.139090907T>C" "" "{PMID:Kristrom 2009:19126629}" "" "IVS3 A>G splice acceptor" "" "Germline" "yes" "" "0" "" "" "g.136199061T>C" "" "pathogenic (recessive)" "" "0000909209" "3" "90" "9" "139090907" "139090907" "subst" "3.87567E-5" "00006" "LHX3_000034" "g.139090907T>C" "" "{PMID:Kristrom 2009:19126629}" "" "IVS3 A>G splice acceptor" "" "Germline" "yes" "" "0" "" "" "g.136199061T>C" "" "pathogenic (recessive)" "" "0000909210" "3" "90" "9" "139090907" "139090907" "subst" "3.87567E-5" "00006" "LHX3_000034" "g.139090907T>C" "" "{PMID:Kristrom 2009:19126629}" "" "IVS3 A>G splice acceptor" "" "Germline" "yes" "" "0" "" "" "g.136199061T>C" "" "pathogenic (recessive)" "" "0000909211" "3" "90" "9" "139092465" "139092465" "subst" "0" "00006" "LHX3_000033" "g.139092465G>A" "" "{PMID:Bonfig 2011:21249393}" "" "" "" "Germline" "" "" "0" "" "" "g.136200619G>A" "" "pathogenic (recessive)" "" "0000913119" "0" "50" "9" "139089190" "139089190" "subst" "8.29628E-6" "01804" "LHX3_000011" "g.139089190A>G" "" "" "" "LHX3(NM_014564.3):c.1190T>C (p.(Val397Ala)), LHX3(NM_014564.5):c.1190T>C (p.V397A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913120" "0" "30" "9" "139089389" "139089389" "subst" "0" "01804" "LHX3_000035" "g.139089389T>G" "" "" "" "LHX3(NM_014564.3):c.991A>C (p.(Ser331Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929567" "0" "50" "9" "139091656" "139091656" "subst" "0" "01804" "LHX3_000036" "g.139091656C>T" "" "" "" "LHX3(NM_014564.3):c.337G>A (p.(Asp113Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949246" "0" "50" "9" "139089488" "139089488" "subst" "2.99569E-5" "02325" "LHX3_000037" "g.139089488A>T" "" "" "" "LHX3(NM_014564.5):c.892T>A (p.F298I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949247" "0" "50" "9" "139091560" "139091560" "subst" "1.63839E-5" "01804" "LHX3_000038" "g.139091560C>T" "" "" "" "LHX3(NM_014564.3):c.433G>A (p.(Val145Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965288" "0" "30" "9" "139092414" "139092414" "del" "0" "02330" "LHX3_000039" "g.139092414del" "" "" "" "LHX3(NM_001363746.1):c.218+15delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978537" "0" "50" "9" "139090884" "139090884" "subst" "0" "01804" "LHX3_000040" "g.139090884C>T" "" "" "" "LHX3(NM_178138.6):c.476G>A (p.(Arg159Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037304" "0" "50" "9" "139089445" "139089445" "subst" "0.000677034" "01804" "LHX3_000002" "g.139089445C>G" "" "" "" "LHX3(NM_014564.5):c.935G>C (p.R312P), LHX3(NM_178138.6):c.920G>C (p.(Arg307Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037305" "0" "30" "9" "139090676" "139090676" "subst" "0" "01804" "LHX3_000041" "g.139090676G>A" "" "" "" "LHX3(NM_178138.6):c.607-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037306" "0" "50" "9" "139091724" "139091724" "subst" "0" "01804" "LHX3_000042" "g.139091724C>A" "" "" "" "LHX3(NM_178138.6):c.254G>T (p.(Arg85Leu))" "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 LHX3 ## Count = 122 "{{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}}" "0000279076" "00025783" "10" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Gln36=)" "" "0000279076" "00025786" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Gln41=)" "" "0000279077" "00025783" "10" "21" "0" "21" "0" "c.21C>G" "r.(?)" "p.(Leu7=)" "" "0000279077" "00025786" "10" "-1953" "0" "-1953" "0" "c.-1953C>G" "r.(?)" "p.(=)" "" "0000279078" "00025783" "10" "454" "3" "454" "3" "c.454+3C>T" "r.spl?" "p.?" "" "0000279078" "00025786" "10" "469" "3" "469" "3" "c.469+3C>T" "r.spl?" "p.?" "" "0000279079" "00025783" "30" "796" "0" "796" "0" "c.796A>T" "r.(?)" "p.(Met266Leu)" "" "0000279079" "00025786" "30" "811" "0" "811" "0" "c.811A>T" "r.(?)" "p.(Met271Leu)" "" "0000279080" "00025783" "10" "79" "1975" "79" "1975" "c.79+1975G>A" "r.(=)" "p.(=)" "" "0000279080" "00025786" "10" "81" "0" "81" "0" "c.81G>A" "r.(?)" "p.(Ala27=)" "" "0000279081" "00025783" "30" "920" "0" "920" "0" "c.920G>C" "r.(?)" "p.(Arg307Pro)" "" "0000279081" "00025786" "30" "935" "0" "935" "0" "c.935G>C" "r.(?)" "p.(Arg312Pro)" "" "0000279082" "00025783" "50" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Arg310Pro)" "" "0000279082" "00025786" "50" "944" "0" "944" "0" "c.944G>C" "r.(?)" "p.(Arg315Pro)" "" "0000290975" "00025783" "50" "79" "1935" "79" "1935" "c.79+1935C>T" "r.(=)" "p.(=)" "" "0000290975" "00025786" "50" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ala14Val)" "" "0000332903" "00025783" "30" "-4243" "0" "-4243" "0" "c.-4243C>T" "r.(?)" "p.(=)" "" "0000332903" "00025786" "30" "-6216" "0" "-6216" "0" "c.-6216C>T" "r.(?)" "p.(=)" "" "0000368401" "00025783" "70" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Leu196Pro)" "" "0000368401" "00025786" "70" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Leu201Pro)" "4" "0000368402" "00025783" "70" "622" "0" "622" "0" "c.622C>G" "r.(?)" "p.(Arg208Gly)" "" "0000368402" "00025786" "70" "637" "0" "637" "0" "c.637C>G" "r.(?)" "p.(Arg213Gly)" "3" "0000368403" "00025783" "50" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Arg310Pro)" "" "0000368403" "00025786" "50" "944" "0" "944" "0" "c.944G>C" "r.(?)" "p.(Arg315Pro)" "6" "0000537142" "00025783" "50" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Val392Ala)" "" "0000537142" "00025786" "50" "1190" "0" "1190" "0" "c.1190T>C" "r.(?)" "p.(Val397Ala)" "" "0000537143" "00025783" "30" "454" "3" "454" "3" "c.454+3C>T" "r.spl?" "p.?" "" "0000537143" "00025786" "30" "469" "3" "469" "3" "c.469+3C>T" "r.spl?" "p.?" "" "0000537144" "00025783" "10" "79" "2007" "79" "2007" "c.79+2007T>C" "r.(=)" "p.(=)" "" "0000537144" "00025786" "10" "94" "19" "94" "19" "c.94+19T>C" "r.(=)" "p.(=)" "" "0000537145" "00025783" "30" "79" "1935" "79" "1935" "c.79+1935C>G" "r.(=)" "p.(=)" "" "0000537145" "00025786" "30" "41" "0" "41" "0" "c.41C>G" "r.(?)" "p.(Ala14Gly)" "" "0000537146" "00025783" "30" "79" "1902" "79" "1902" "c.79+1902C>T" "r.(=)" "p.(=)" "" "0000537146" "00025786" "30" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ala3Val)" "" "0000537147" "00025783" "10" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Ala17=)" "" "0000537147" "00025786" "10" "-1923" "0" "-1923" "0" "c.-1923C>T" "r.(?)" "p.(=)" "" "0000611983" "00025783" "50" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Met358Ile)" "" "0000611983" "00025786" "50" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Met363Ile)" "" "0000611984" "00025783" "50" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Gly271Asp)" "" "0000611984" "00025786" "50" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Gly276Asp)" "" "0000611985" "00025783" "30" "252" "-4" "252" "-4" "c.252-4G>T" "r.spl?" "p.?" "" "0000611985" "00025786" "30" "267" "-4" "267" "-4" "c.267-4G>T" "r.spl?" "p.?" "" "0000652662" "00025783" "50" "454" "3" "454" "3" "c.454+3C>T" "r.spl?" "p.?" "" "0000652662" "00025786" "50" "469" "3" "469" "3" "c.469+3C>T" "r.spl?" "p.?" "" "0000656287" "00025783" "10" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Arg159=)" "" "0000656287" "00025786" "10" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Arg164=)" "" "0000678589" "00025783" "50" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Arg310Pro)" "" "0000678589" "00025786" "50" "944" "0" "944" "0" "c.944G>C" "r.(?)" "p.(Arg315Pro)" "" "0000722383" "00025783" "50" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Arg310Pro)" "" "0000722383" "00025786" "50" "944" "0" "944" "0" "c.944G>C" "r.(?)" "p.(Arg315Pro)" "" "0000803978" "00025783" "10" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Cys121=)" "" "0000803978" "00025786" "10" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Cys126=)" "" "0000852175" "00025783" "30" "1187" "0" "1187" "0" "c.1187A>C" "r.(?)" "p.(Gln396Pro)" "" "0000852175" "00025786" "30" "1202" "0" "1202" "0" "c.1202A>C" "r.(?)" "p.(Gln401Pro)" "" "0000888724" "00025783" "30" "803" "0" "803" "0" "c.803C>T" "r.(?)" "p.(Pro268Leu)" "" "0000888724" "00025786" "30" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Pro273Leu)" "" "0000888725" "00025783" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Ala153=)" "" "0000888725" "00025786" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(Ala158=)" "" "0000909146" "00025783" "10" "79" "2007" "79" "2007" "c.79+2007T>C" "r.(?)" "p.(=)" "" "0000909147" "00025783" "10" "79" "1975" "79" "1975" "c.79+1975G>A" "r.(?)" "p.(=)" "" "0000909148" "00025783" "10" "79" "1975" "79" "1975" "c.79+1975G>A" "r.(?)" "p.(=)" "" "0000909149" "00025783" "10" "79" "2007" "79" "2007" "c.79+2007T>C" "r.(?)" "p.(=)" "" "0000909191" "00025783" "90" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Tyr111Cys)" "" "0000909191" "00025786" "90" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Tyr116Cys)" "" "0000909192" "00025783" "90" "452" "0" "454" "20" "c.452_454+20del" "r.spl" "p.?" "" "0000909192" "00025786" "90" "467" "0" "469" "20" "c.467_469+20del" "r.spl" "p.?" "3_3i" "0000909193" "00025783" "90" "96" "0" "96" "0" "c.96del" "r.(?)" "p.(Gly33Alafs*140)" "" "0000909193" "00025786" "90" "111" "0" "111" "0" "c.111del" "r.(?)" "p.(Gly38Alafs*140)" "" "0000909194" "00025783" "90" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ala210Val)" "" "0000909194" "00025786" "90" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ala215Val)" "" "0000909195" "00025783" "90" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ala210Val)" "" "0000909195" "00025786" "90" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ala215Val)" "" "0000909196" "00025783" "90" "287" "0" "288" "0" "c.287_288delinsTCCT" "r.(?)" "p.(Gly96Valfs*78)" "" "0000909196" "00025786" "90" "302" "0" "303" "0" "c.302_303delinsTCCT" "r.(?)" "p.(Gly101Valfs*78)" "" "0000909197" "00025783" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000909197" "00025786" "90" "0" "0" "0" "0" "c.-119_*1075{0}" "r.0" "p.0" "_1_6_" "0000909198" "00025783" "90" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Trp224*)" "" "0000909198" "00025786" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229*)" "" "0000909199" "00025783" "90" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Trp224*)" "" "0000909199" "00025786" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229*)" "" "0000909200" "00025783" "90" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Trp224*)" "" "0000909200" "00025786" "90" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Trp229*)" "" "0000909201" "00025783" "90" "80" "-530" "776" "-454" "c.80-530_776-454del" "r.?" "p.?" "" "0000909201" "00025786" "90" "95" "-530" "791" "-454" "c.95-530_791-454del" "r.?" "p.?" "" "0000909202" "00025783" "90" "80" "-530" "776" "-454" "c.80-530_776-454del" "r.?" "p.?" "" "0000909203" "00025783" "90" "80" "-530" "776" "-454" "c.80-530_776-454del" "r.?" "p.?" "" "0000909204" "00025783" "90" "133" "0" "133" "0" "c.133A>T" "r.(?)" "p.(Lys45*)" "" "0000909204" "00025786" "90" "148" "0" "148" "0" "c.148A>T" "r.(?)" "p.(Lys50*)" "" "0000909205" "00025783" "90" "455" "-2" "455" "-2" "c.455-2A>G" "r.(455_606del)" "p.(Glu152GlyfsTer52)" "" "0000909205" "00025786" "90" "470" "-2" "470" "-2" "c.470-2A>G" "r.(470_621del)" "p.(Glu157GlyfsTer52)" "" "0000909206" "00025783" "90" "455" "-2" "455" "-2" "c.455-2A>G" "r.(455_606del)" "p.(Glu152GlyfsTer52)" "" "0000909206" "00025786" "90" "470" "-2" "470" "-2" "c.470-2A>G" "r.(470_621del)" "p.(Glu157GlyfsTer52)" "" "0000909207" "00025783" "90" "455" "-2" "455" "-2" "c.455-2A>G" "r.(455_606del)" "p.(Glu152GlyfsTer52)" "" "0000909207" "00025786" "90" "470" "-2" "470" "-2" "c.470-2A>G" "r.(470_621del)" "p.(Glu157GlyfsTer52)" "" "0000909208" "00025783" "90" "455" "-2" "455" "-2" "c.455-2A>G" "r.(455_606del)" "p.(Glu152GlyfsTer52)" "" "0000909208" "00025786" "90" "470" "-2" "470" "-2" "c.470-2A>G" "r.(470_621del)" "p.(Glu157GlyfsTer52)" "" "0000909209" "00025783" "90" "455" "-2" "455" "-2" "c.455-2A>G" "r.(455_606del)" "p.(Glu152GlyfsTer52)" "" "0000909209" "00025786" "90" "470" "-2" "470" "-2" "c.470-2A>G" "r.(470_621del)" "p.(Glu157GlyfsTer52)" "" "0000909210" "00025783" "90" "455" "-2" "455" "-2" "c.455-2A>G" "r.(455_606del)" "p.(Glu152GlyfsTer52)" "" "0000909210" "00025786" "90" "470" "-2" "470" "-2" "c.470-2A>G" "r.(470_621del)" "p.(Glu157GlyfsTer52)" "" "0000909211" "00025783" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "2" "0000909211" "00025786" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77*)" "2" "0000913119" "00025783" "50" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Val392Ala)" "" "0000913119" "00025786" "50" "1190" "0" "1190" "0" "c.1190T>C" "r.(?)" "p.(Val397Ala)" "" "0000913120" "00025783" "30" "976" "0" "976" "0" "c.976A>C" "r.(?)" "p.(Ser326Arg)" "" "0000913120" "00025786" "30" "991" "0" "991" "0" "c.991A>C" "r.(?)" "p.(Ser331Arg)" "" "0000929567" "00025783" "50" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Asp108Asn)" "" "0000929567" "00025786" "50" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Asp113Asn)" "" "0000949246" "00025783" "50" "877" "0" "877" "0" "c.877T>A" "r.(?)" "p.(Phe293Ile)" "" "0000949246" "00025786" "50" "892" "0" "892" "0" "c.892T>A" "r.(?)" "p.(Phe298Ile)" "" "0000949247" "00025783" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Val140Met)" "" "0000949247" "00025786" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Val145Met)" "" "0000965288" "00025783" "30" "251" "15" "251" "15" "c.251+15del" "r.(=)" "p.(=)" "" "0000965288" "00025786" "30" "266" "15" "266" "15" "c.266+15del" "r.(=)" "p.(=)" "" "0000978537" "00025783" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159Gln)" "" "0000978537" "00025786" "50" "491" "0" "491" "0" "c.491G>A" "r.(?)" "p.(Arg164Gln)" "" "0001037304" "00025783" "50" "920" "0" "920" "0" "c.920G>C" "r.(?)" "p.(Arg307Pro)" "" "0001037304" "00025786" "50" "935" "0" "935" "0" "c.935G>C" "r.(?)" "p.(Arg312Pro)" "" "0001037305" "00025783" "30" "607" "-10" "607" "-10" "c.607-10C>T" "r.(=)" "p.(=)" "" "0001037305" "00025786" "30" "622" "-10" "622" "-10" "c.622-10C>T" "r.(=)" "p.(=)" "" "0001037306" "00025783" "50" "254" "0" "254" "0" "c.254G>T" "r.(?)" "p.(Arg85Leu)" "" "0001037306" "00025786" "50" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Arg90Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000164791" "0000368401" "0000164791" "0000909146" "0000164791" "0000909147" "0000164792" "0000368402" "0000164792" "0000909148" "0000164792" "0000909149" "0000164793" "0000368403" "0000295973" "0000652662" "0000429606" "0000909191" "0000429607" "0000909192" "0000429608" "0000909193" "0000429609" "0000909194" "0000429610" "0000909195" "0000429611" "0000909196" "0000429612" "0000909197" "0000429613" "0000909198" "0000429614" "0000909199" "0000429615" "0000909200" "0000429616" "0000909201" "0000429617" "0000909202" "0000429618" "0000909203" "0000429619" "0000909204" "0000429620" "0000909205" "0000429621" "0000909206" "0000429622" "0000909207" "0000429623" "0000909208" "0000429624" "0000909209" "0000429625" "0000909210" "0000429626" "0000909211"