### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SNX14) # 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}}" "SNX14" "sorting nexin 14" "6" "q15" "unknown" "NC_000006.11" "UD_133034046583" "" "http://www.LOVD.nl/SNX14" "" "1" "14977" "57231" "616105" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/SNX14_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-19 17:02:51" "00000" "2024-08-28 13:16:32" ## 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}}" "00019981" "SNX14" "transcript variant 1" "002" "NM_153816.3" "" "NP_722523.1" "" "" "" "-193" "3312" "2841" "86303629" "86215214" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03016" "CMT4J" "Charcot-Marie-Tooth disease, type 4J (CMT-4J)" "AR" "611228" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04669" "SCAR20" "ataxia, spinocerebellar, autosomal recessive, type 20 (SCAR-20)" "AR" "616354" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SNX14" "04669" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00025487" "" "" "" "1" "" "00705" "{PMID:Thomas 2014:25439728}" "5-generation family, sister of 25439728_Fam1_IV.6" "F" "yes" "Portugal" "" "0" "" "" "" "" "00027199" "" "" "" "1" "" "00705" "{PMID:Thomas 2014:25439728}" "5 generation family; younger sister of 25439728_Fam1_IV.3; 4 unaffected siblings." "F" "yes" "Portugal" "" "0" "pedigree available" "" "" "" "00027200" "" "" "" "1" "" "00705" "{PMID:Thomas 2014:25439728}" "5 generation family; 4 affected; older sister of 25439728_Fam2_IV.2; 2nd aunt of 25439728_Fam2_V.1 and 25439728_Fam2_V.2." "F" "yes" "Turkey" "" "0" "pedigree available" "" "" "" "00027201" "" "" "" "1" "" "00705" "{PMID:Thomas 2014:25439728}" "5 generation family; younger brother of 25439728_Fam2_IV.1; 2nd uncle to 25439728_Fam2_V.1 and 25439728_Fam2_V.2" "M" "yes" "Turkey" "" "0" "pedigree available" "" "" "" "00027202" "" "" "" "1" "" "00705" "{PMID:Thomas 2014:25439728}" "5 generation family; sister to 25439728_Fam2_V.2; 2nd cousin to 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2" "F" "yes" "Turkey" "" "0" "pedigree available" "" "" "" "00027203" "" "" "" "1" "" "00705" "{PMID:Thomas 2014:25439728}" "5 generation family; younger brother of 25439728_Fam2_V.1; 2nd nephew of 25439728_Fam2_IV.1 and 25439728_Fam2_IV.2" "M" "yes" "Turkey" "" "0" "pedigree available" "" "" "" "00027204" "" "" "" "1" "" "00705" "{PMID:Thomas 2014:25439728}" "3 generation family" "F" "yes" "Turkey" "" "0" "pedigree available" "" "" "" "00080817" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00080946" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081088" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00150160" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBABCGD-62463468" "00150232" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected carrier parents" "F" "" "Turkey" "" "0" "" "" "" "26539891-BAB3498" "00387891" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, second cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9000121" "00441138" "" "" "" "1" "" "04593" "" "" "F" "yes" "Chile" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00025487" "00139" "00027199" "00139" "00027200" "00139" "00027201" "00139" "00027202" "00139" "00027203" "00139" "00027204" "00139" "00080817" "04669" "00080946" "04669" "00081088" "04669" "00150160" "00198" "00150232" "00198" "00387891" "00139" "00441138" "03016" "00441138" "04669" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03016, 04669 ## Count = 15 "{{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}}" "0000021603" "00139" "00025487" "00705" "Familial, autosomal recessive" "26y" "Severe cerebellar ataxia; severe intellectual\r\ndisability; absent speech; coarse facial features; relative macrocephaly; brachycamptodactyly 5th finger; progressive cerebellar atrophy; Hypotonia; Talipes equinovarus; Hypo/areflexia; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Short and broad\r\nfinger/toes; Elbow motion limitation; Sensorineural Hearing Loss; Pontine thinning" "" "" "" "" "" "" "" "" "" "" "" "0000023272" "00139" "00027199" "00705" "Familial, autosomal recessive" "07y" "severe cerebellar ataxia; severe intellectual\r\ndisability (ID); severe impaired speech; coarse facial features; relative macrocephaly; brachycamptodactyly of fifth fingers; early-onset cerebellar atrophy; hypotonia; Talipes equino-varum; Hypo/areflexia; coarse features; Short palpebral fissures; Fullness of the upper\r\neyelid; Broad deep long philtrum; Thick lip vermilions(upper + lower); Short and broad\r\nfinger/toes; Elbow motion limitation; Hearing loss;" "" "" "" "" "" "" "" "" "" "" "" "0000023273" "00139" "00027200" "00705" "Familial, autosomal recessive" "32y" "Severe ID; absent speech; ataxia; very late motor development; Talipes equino-varum; Hypo/areflexia; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrumþ; Thick lip vermilions (upper /lower); Scoliosis/kyphosis; Brachy/camptodactyly of\r\n5th fingers; Short and broad finger/toes; Cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000023274" "00139" "00027201" "00705" "Familial, autosomal recessive" "16y" "Severe ID; absent speech; Hypotonia; ataxia; Hypo/areflexia; late motor development; coarse features; Short palpebral fissures; Short palpebral fissures; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Scoliosis/kyphosis; Brachy/camptodactyly of\r\n5th fingers; Short and broad finger/toes; sensori neural hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000023275" "00139" "00027202" "00705" "Familial, autosomal recessive" "10y" "Severe ID; absent speech; Hypotonia; late motor development; ataxia; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Brachy/camptodactyly of 5th fingers; SN hearing loss; Cerebellar atrophy; Pontine thinning." "" "" "" "" "" "" "" "" "" "" "" "0000023276" "00139" "00027203" "00705" "Familial, autosomal recessive" "03y" "ID NA; absent speech; hypotonia; late motor development; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Short and broad\r\nfinger/toes;" "" "" "" "" "" "" "" "" "" "" "" "0000023277" "00139" "00027204" "00705" "Familial, autosomal recessive" "23y" "Moderate ID; impaired speech; hypotonia; late motor development; ataxia; Hypo/areflexia; Coarse features; Broad/bulbous nose; Thick lower lip vermilions; Brachy/camptodactyly of 5th fingers; Short and broad finger/toes; Elbow motion limitation; Sensineuronal hearing loss; progressive Cerebellar atrophy; Pontine thinning" "" "" "" "" "" "" "" "" "" "" "" "0000060386" "04669" "00080817" "01758" "Familial, autosomal recessive" "" "Spinocerebellar ataxia type 20 (OMIM:616354)" "" "" "" "" "" "" "" "" "" "" "" "0000060515" "04669" "00080946" "01758" "Familial, autosomal recessive" "" "Spinocerebellar ataxia, autosomal recessive 20 (OMIM:616354)" "" "" "" "" "" "" "" "" "" "" "" "0000060657" "04669" "00081088" "01758" "Familial, autosomal recessive" "" "Spinocerebellar ataxia, autosomal recessive 20 (OMIM:616354)" "" "" "" "" "" "" "" "" "" "" "" "0000122562" "00198" "00150160" "00006" "Familial, autosomal recessive" "" "intellectual diability, cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000122636" "00198" "00150232" "00006" "Familial, autosomal recessive" "" "intellectual disability, microcephaly, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000281459" "00139" "00387891" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000330577" "03016" "00441138" "04593" "Familial, autosomal recessive" "02y" "HP:0008947; HP:0001263; HP:0001249; HP:0001284; HP:0001266; HP:0000407; HP:0001271" "02y?" "05y" "" "" "" "" "" "" "CMT4J" "hypotonia, global developmental delay, areflexia, dysmorphic features" "" "0000330578" "03016" "00441138" "04593" "Familial, autosomal recessive" "02y" "HP:0001271; HP:0006855" "02y?" "05y" "" "" "" "" "" "" "SCAR20" "hypotonia, global developmental delay, areflexia, dysmorphic features" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025492" "00025487" "1" "00705" "00705" "2014-12-12 14:36:37" "" "" "arraySNP;SEQ" "DNA" "" "" "0000027207" "00027199" "1" "00705" "00705" "2014-12-29 10:05:39" "" "" "arraySNP;SEQ" "DNA" "" "" "0000027208" "00027200" "1" "00705" "00705" "2014-12-29 11:46:05" "" "" "arraySNP;SEQ" "DNA" "" "" "0000027209" "00027201" "1" "00705" "00705" "2014-12-29 13:26:51" "" "" "arraySNP;SEQ" "DNA" "" "" "0000027210" "00027202" "1" "00705" "00705" "2014-12-29 13:40:03" "" "" "arraySNP;SEQ" "DNA" "" "" "0000027211" "00027203" "1" "00705" "00705" "2014-12-29 14:25:59" "" "" "arraySNP;SEQ" "DNA" "" "" "0000027212" "00027204" "1" "00705" "00705" "2014-12-29 15:05:32" "00006" "2015-02-20 22:38:39" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000080929" "00080817" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081058" "00080946" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081200" "00081088" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000151015" "00150160" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000151087" "00150232" "1" "00006" "00006" "2018-01-13 13:55:18" "" "" "arrayCGH" "DNA" "" "" "0000389122" "00387891" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442624" "00441138" "1" "04593" "04593" "2023-11-07 16:33:48" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000025492" "SNX14" "0000027207" "SNX14" "0000027208" "SNX14" "0000027209" "SNX14" "0000027210" "SNX14" "0000027211" "SNX14" "0000027212" "SNX14" "0000080929" "SNX14" "0000081058" "SNX14" "0000081200" "SNX14" "0000151015" "SNX14" "0000151087" "SNX14" "0000389122" "SNX14" ## 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 = 42 "{{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}}" "0000048383" "3" "70" "6" "86223575" "86223575" "subst" "0" "00705" "SNX14_000001" "g.86223575G>A" "" "{PMID:Thomas 2014:25439728}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85513857G>A" "" "likely pathogenic" "" "0000050365" "3" "90" "6" "86223575" "86223575" "subst" "0" "00705" "SNX14_000001" "g.86223575G>A" "" "{PMID:Thomas 2014:25439728}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85513857G>A" "" "pathogenic" "" "0000050370" "3" "90" "6" "86230111" "86255652" "del" "0" "00705" "SNX14_000002" "g.86230111_86255652del" "" "{PMID:Thomas 2014:25439728}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85520393_85545934del" "" "pathogenic" "" "0000050377" "3" "90" "6" "86230111" "86255652" "del" "0" "00705" "SNX14_000002" "g.86230111_86255652del" "" "{PMID:Thomas 2014:25439728}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85520393_85545934del" "" "pathogenic" "" "0000050379" "3" "90" "6" "86230111" "86255652" "del" "0" "00705" "SNX14_000002" "g.86230111_86255652del" "" "{PMID:Thomas 2014:25439728}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85520393_85545934del" "" "pathogenic" "" "0000050391" "3" "90" "6" "86230111" "86255652" "del" "0" "00705" "SNX14_000002" "g.86230111_86255652del" "" "{PMID:Thomas 2014:25439728}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85520393_85545934del" "" "pathogenic" "" "0000050424" "3" "90" "6" "86239909" "86239909" "subst" "0" "00705" "SNX14_000003" "g.86239909C>T" "" "{PMID:Thomas 2014:25439728}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85530191C>T" "" "pathogenic" "" "0000130015" "3" "70" "6" "86217709" "86217709" "subst" "0" "01758" "SNX14_000004" "g.86217709G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.85507991G>A" "" "likely pathogenic" "ACMG" "0000130144" "3" "70" "6" "86217709" "86217709" "subst" "0" "01758" "SNX14_000004" "g.86217709G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.85507991G>A" "" "likely pathogenic" "ACMG" "0000130286" "3" "90" "6" "86239909" "86239909" "subst" "0" "01758" "SNX14_000005" "g.86239909C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.85530191C>A" "" "pathogenic" "ACMG" "0000244174" "3" "90" "6" "86243455" "86243455" "dup" "0" "00006" "SNX14_000007" "g.86243455dup" "" "{PMID:Karaca 2015:26539891}" "" "NM_020468: c.1513dupA; p.T505fs" "" "Germline" "" "" "0" "" "" "g.85533737dup" "" "pathogenic" "" "0000244257" "3" "90" "6" "86201694" "86282093" "del" "0" "00006" "SNX14_000006" "g.(?_86201694)_(86282093_?)del" "" "{PMID:Karaca 2015:26539891}" "" "" "64 kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000308682" "0" "50" "6" "86223578" "86223578" "subst" "0" "01943" "SNX14_000009" "g.86223578G>A" "" "" "" "SNX14(NM_153816.5):c.2593C>T (p.L865F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85513860G>A" "" "VUS" "" "0000308683" "0" "30" "6" "86282026" "86282026" "subst" "0.000349761" "01943" "SNX14_000011" "g.86282026T>C" "" "" "" "SNX14(NM_001350532.1):c.391A>G (p.K131E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85572308T>C" "" "likely benign" "" "0000331106" "0" "50" "6" "86217761" "86217761" "del" "6.52896E-5" "01804" "SNX14_000008" "g.86217761del" "" "" "" "SNX14(NM_001350532.1):c.2733delT (p.C911*), SNX14(NM_153816.3):c.2670del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85508043del" "" "VUS" "" "0000331107" "0" "50" "6" "86281874" "86281874" "subst" "0" "01804" "SNX14_000010" "g.86281874A>G" "" "" "" "SNX14(NM_020468.3):c.398T>C (p.(Val133Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85572156A>G" "" "VUS" "" "0000340657" "0" "50" "6" "86243318" "86243318" "subst" "0" "02327" "SNX14_000013" "g.86243318T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85533600T>C" "" "VUS" "" "0000342468" "0" "70" "6" "86259441" "86259441" "subst" "0" "02327" "SNX14_000014" "g.86259441C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85549723C>A" "" "likely pathogenic" "" "0000350205" "0" "90" "6" "86283985" "86283985" "subst" "4.15524E-6" "02327" "SNX14_000016" "g.86283985G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85574267G>C" "" "pathogenic" "" "0000350608" "0" "90" "6" "86239968" "86239971" "del" "0" "02327" "SNX14_000012" "g.86239968_86239971del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85530250_85530253del" "" "pathogenic" "" "0000529948" "0" "10" "6" "86223813" "86223813" "subst" "0.00209308" "01943" "SNX14_000017" "g.86223813C>T" "" "" "" "SNX14(NM_153816.5):c.2532G>A (p.L844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85514095C>T" "" "benign" "" "0000529949" "0" "30" "6" "86224218" "86224218" "subst" "0" "01943" "SNX14_000018" "g.86224218T>A" "" "" "" "SNX14(NM_153816.5):c.2392+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85514500T>A" "" "likely benign" "" "0000529950" "0" "30" "6" "86227734" "86227734" "subst" "8.25348E-6" "01943" "SNX14_000019" "g.86227734T>C" "" "" "" "SNX14(NM_153816.5):c.2140A>G (p.M714V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85518016T>C" "" "likely benign" "" "0000529951" "0" "30" "6" "86253348" "86253348" "subst" "0.00286453" "01943" "SNX14_000020" "g.86253348G>A" "" "" "" "SNX14(NM_153816.5):c.1239C>T (p.P413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85543630G>A" "" "likely benign" "" "0000529952" "0" "30" "6" "86256864" "86256864" "subst" "0.000975554" "01943" "SNX14_000021" "g.86256864G>A" "" "" "" "SNX14(NM_153816.5):c.1074C>T (p.G358=), SNX14(NM_153816.6):c.1074C>T (p.(Gly358=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85547146G>A" "" "likely benign" "" "0000529954" "0" "50" "6" "86267718" "86267718" "subst" "0" "01943" "SNX14_000023" "g.86267718C>T" "" "" "" "SNX14(NM_153816.5):c.610G>A (p.V204M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85558000C>T" "" "VUS" "" "0000529955" "0" "10" "6" "86282090" "86282090" "subst" "0.00331039" "01943" "SNX14_000024" "g.86282090C>A" "" "" "" "SNX14(NM_153816.5):c.264G>T (p.Q88H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85572372C>A" "" "benign" "" "0000529956" "0" "50" "6" "86284095" "86284095" "subst" "4.49252E-6" "01943" "SNX14_000025" "g.86284095A>G" "" "" "" "SNX14(NM_153816.5):c.142T>C (p.Y48H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85574377A>G" "" "VUS" "" "0000529957" "0" "30" "6" "86303338" "86303338" "subst" "0.000116415" "01943" "SNX14_000026" "g.86303338G>A" "" "" "" "SNX14(NM_153816.5):c.99C>T (p.F33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85593620G>A" "" "likely benign" "" "0000621779" "0" "50" "6" "86282059" "86282059" "subst" "0" "01943" "SNX14_000028" "g.86282059G>A" "" "" "" "SNX14(NM_001350532.1):c.358C>T (p.H120Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85572341G>A" "" "VUS" "" "0000689814" "0" "30" "6" "86251731" "86251731" "subst" "8.63864E-6" "01943" "SNX14_000029" "g.86251731A>T" "" "" "" "SNX14(NM_001350532.1):c.1483T>A (p.S495T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721129" "0" "50" "6" "86253010" "86253010" "subst" "4.18402E-5" "01943" "SNX14_000030" "g.86253010A>G" "" "" "" "SNX14(NM_001350532.1):c.1342T>C (p.Y448H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802753" "0" "90" "6" "86217761" "86217761" "del" "6.52896E-5" "01943" "SNX14_000008" "g.86217761del" "" "" "" "SNX14(NM_001350532.1):c.2733delT (p.C911*), SNX14(NM_153816.3):c.2670del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000817915" "3" "90" "6" "86277254" "86277254" "subst" "0" "00006" "SNX14_000031" "g.86277254G>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.85567536G>T" "" "pathogenic (recessive)" "ACMG" "0000860534" "0" "30" "6" "86238016" "86238016" "subst" "1.62665E-5" "01943" "SNX14_000032" "g.86238016T>C" "" "" "" "SNX14(NM_001350532.1):c.2022A>G (p.L674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860535" "0" "50" "6" "86256841" "86256841" "subst" "0" "01943" "SNX14_000033" "g.86256841C>A" "" "" "" "SNX14(NM_001350532.1):c.1160G>T (p.C387F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860536" "0" "30" "6" "86284106" "86284109" "del" "0" "01804" "SNX14_000034" "g.86284106_86284109del" "" "" "" "SNX14(NM_001297614.2):c.141-9_141-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000944324" "3" "70" "6" "86224237" "86224237" "subst" "4.07598E-6" "04593" "SNX14_000035" "g.86224237G>C" "" "" "" "" "" "Germline" "yes" "rs1196127914" "0" "" "" "g.85514519G>C" "" "likely pathogenic (recessive)" "ACMG" "0000977387" "0" "30" "6" "86256864" "86256864" "subst" "0.000975554" "01804" "SNX14_000021" "g.86256864G>A" "" "" "" "SNX14(NM_153816.5):c.1074C>T (p.G358=), SNX14(NM_153816.6):c.1074C>T (p.(Gly358=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977388" "0" "50" "6" "86267774" "86267774" "subst" "0" "01804" "SNX14_000036" "g.86267774T>G" "" "" "" "SNX14(NM_153816.6):c.554A>C (p.(Asp185Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977389" "0" "30" "6" "86277280" "86277280" "subst" "0" "01804" "SNX14_000037" "g.86277280A>G" "" "" "" "SNX14(NM_153816.6):c.433T>C (p.(Leu145=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977390" "0" "90" "6" "86282023" "86282023" "subst" "2.03361E-5" "01804" "SNX14_000038" "g.86282023G>A" "" "" "" "SNX14(NM_153816.6):c.331C>T (p.(Arg111Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 SNX14 ## Count = 42 "{{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}}" "0000048383" "00019981" "70" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Gln866*)" "26" "0000050365" "00019981" "90" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Gln866*)" "26" "0000050370" "00019981" "90" "1108" "1181" "2108" "-2342" "c.1108+1181_2108-2342del" "r.(del)" "p.(Glu370_Leu702del)" "12i_21i" "0000050377" "00019981" "90" "1108" "1181" "2108" "-2342" "c.1108+1181_2108-2342del" "r.(del)" "p.(Glu370_Leu702del)" "12i_21i" "0000050379" "00019981" "90" "1108" "1181" "2108" "-2342" "c.1108+1181_2108-2342del" "r.(del)" "p.(Glu370_Leu702del)" "12i_21i" "0000050391" "00019981" "90" "1108" "1181" "2108" "-2342" "c.1108+1181_2108-2342del" "r.(del)" "p.(Glu370_Leu702del)" "12i_21i" "0000050424" "00019981" "90" "1894" "1" "1894" "1" "c.1894+1G>A" "r.1810_1894del" "p.Ala603_Gly632del" "19i" "0000130015" "00019981" "70" "2722" "0" "2722" "0" "c.2722C>T" "r.(?)" "p.(Gln908*)" "" "0000130144" "00019981" "70" "2722" "0" "2722" "0" "c.2722C>T" "r.(?)" "p.(Gln908*)" "" "0000130286" "00019981" "90" "1894" "1" "1894" "1" "c.1894+1G>T" "r.spl?" "p.?" "" "0000244174" "00019981" "90" "1672" "0" "1672" "0" "c.1672dup" "r.(?)" "p.(Thr558Asnfs*11)" "" "0000244257" "00019981" "90" "0" "0" "0" "0" "c.(261+1_262-1_*1_?)del" "r.?" "p.?" "3i_29_" "0000308682" "00019981" "50" "2593" "0" "2593" "0" "c.2593C>T" "r.(?)" "p.(Leu865Phe)" "" "0000308683" "00019981" "30" "328" "0" "328" "0" "c.328A>G" "r.(?)" "p.(Lys110Glu)" "" "0000331106" "00019981" "50" "2670" "0" "2670" "0" "c.2670del" "r.(?)" "p.(Cys890Ter)" "" "0000331107" "00019981" "50" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Val133Ala)" "" "0000340657" "00019981" "50" "1809" "0" "1809" "0" "c.1809A>G" "r.(?)" "p.(Ala603=)" "" "0000342468" "00019981" "70" "791" "0" "791" "0" "c.791G>T" "r.(?)" "p.(Arg264Ile)" "" "0000350205" "00019981" "90" "252" "0" "252" "0" "c.252C>G" "r.(?)" "p.(Tyr84Ter)" "" "0000350608" "00019981" "90" "1837" "0" "1840" "0" "c.1837_1840del" "r.(?)" "p.(Val613IlefsTer14)" "" "0000529948" "00019981" "10" "2532" "0" "2532" "0" "c.2532G>A" "r.(?)" "p.(Leu844=)" "" "0000529949" "00019981" "30" "2392" "6" "2392" "6" "c.2392+6A>T" "r.(=)" "p.(=)" "" "0000529950" "00019981" "30" "2140" "0" "2140" "0" "c.2140A>G" "r.(?)" "p.(Met714Val)" "" "0000529951" "00019981" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Pro413=)" "" "0000529952" "00019981" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Gly358=)" "" "0000529954" "00019981" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Val204Met)" "" "0000529955" "00019981" "10" "264" "0" "264" "0" "c.264G>T" "r.(?)" "p.(Gln88His)" "" "0000529956" "00019981" "50" "142" "0" "142" "0" "c.142T>C" "r.(?)" "p.(Tyr48His)" "" "0000529957" "00019981" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(Phe33=)" "" "0000621779" "00019981" "50" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(His99Tyr)" "" "0000689814" "00019981" "30" "1420" "0" "1420" "0" "c.1420T>A" "r.(?)" "p.(Ser474Thr)" "" "0000721129" "00019981" "50" "1279" "0" "1279" "0" "c.1279T>C" "r.(?)" "p.(Tyr427His)" "" "0000802753" "00019981" "90" "2670" "0" "2670" "0" "c.2670del" "r.(?)" "p.(Cys890Ter)" "" "0000817915" "00019981" "90" "459" "0" "459" "0" "c.459C>A" "r.(?)" "p.(Tyr153Ter)" "" "0000860534" "00019981" "30" "1959" "0" "1959" "0" "c.1959A>G" "r.(?)" "p.(Leu653=)" "" "0000860535" "00019981" "50" "1097" "0" "1097" "0" "c.1097G>T" "r.(?)" "p.(Cys366Phe)" "" "0000860536" "00019981" "30" "141" "-9" "141" "-6" "c.141-9_141-6del" "r.(=)" "p.(=)" "" "0000944324" "00019981" "70" "2379" "0" "2379" "0" "c.2379C>G" "r.(?)" "p.(Tyr793*)" "24" "0000977387" "00019981" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Gly358=)" "" "0000977388" "00019981" "50" "554" "0" "554" "0" "c.554A>C" "r.(?)" "p.(Asp185Ala)" "" "0000977389" "00019981" "30" "433" "0" "433" "0" "c.433T>C" "r.(?)" "p.(=)" "" "0000977390" "00019981" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000025492" "0000048383" "0000027207" "0000050365" "0000027208" "0000050370" "0000027209" "0000050377" "0000027210" "0000050379" "0000027211" "0000050391" "0000027212" "0000050424" "0000080929" "0000130015" "0000081058" "0000130144" "0000081200" "0000130286" "0000151015" "0000244174" "0000151087" "0000244257" "0000389122" "0000817915" "0000442624" "0000944324"