ClinVar for Gene (Select 6656) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167696	NM_005986.3(SOX1):c.871G>T (p.Ala291Ser)	SOX1, SOX1-OT (A291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167695	NM_005986.3(SOX1):c.824G>T (p.Gly275Val)	SOX1, SOX1-OT (G275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167694	NM_005986.3(SOX1):c.523G>A (p.Gly175Ser)	SOX1, SOX1-OT (G175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167693	NM_005986.3(SOX1):c.47C>T (p.Ala16Val)	SOX1, SOX1-OT (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167692	NM_005986.3(SOX1):c.1066C>T (p.Pro356Ser)	SOX1, SOX1-OT (P356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167691	NM_005986.3(SOX1):c.1056G>C (p.Glu352Asp)	SOX1, SOX1-OT (E352D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167690	NM_005986.3(SOX1):c.1033A>T (p.Ser345Cys)	SOX1, SOX1-OT (S345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3043263	NM_005986.3(SOX1):c.1155G>A (p.Thr385=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related condition	GLikely benign
Select item 3041816	NM_005986.3(SOX1):c.909G>C (p.Ala303=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related condition	GLikely benign
Select item 3041721	NM_005986.3(SOX1):c.81G>C (p.Gly27=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related condition	GLikely benign
Select item 3041267	NM_005986.3(SOX1):c.718_723dup (p.His241_Asn242insProHis)	SOX1, SOX1-OT	Duplication (inframe insertion)	SOX1-related condition	GBenign
Select item 3038033	NM_005986.3(SOX1):c.891GGC[7] (p.Ala306del)	SOX1, SOX1-OT (A306del)	Microsatellite (inframe deletion)	SOX1-related condition	GLikely benign
Select item 3038021	NM_005986.3(SOX1):c.846CGC[4] (p.Ala288del)	SOX1, SOX1-OT (A288del)	Microsatellite (inframe deletion)	SOX1-related condition	GLikely benign
Select item 3035921	NM_005986.3(SOX1):c.119_130del (p.Gly40_Gly43del)	SOX1, SOX1-OT	Deletion (inframe deletion)	SOX1-related condition	GLikely benign
Select item 3033442	NM_005986.3(SOX1):c.84G>C (p.Ala28=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related condition	GLikely benign
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2643962	NM_005986.3(SOX1):c.846C>T (p.Ala282=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643961	NM_005986.3(SOX1):c.686CGCACC[2] (p.231PH[1])	SOX1, SOX1-OT	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2609045	NM_005986.3(SOX1):c.977C>T (p.Pro326Leu)	SOX1, SOX1-OT (P326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2540302	NM_005986.3(SOX1):c.20A>C (p.Glu7Ala)	SOX1, SOX1-OT (E7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517006	NM_005986.3(SOX1):c.1145T>C (p.Val382Ala)	SOX1, SOX1-OT (V382A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390280	NM_005986.3(SOX1):c.957G>T (p.Lys319Asn)	SOX1, SOX1-OT (K319N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390278	NM_005986.3(SOX1):c.956A>C (p.Lys319Thr)	SOX1, SOX1-OT (K319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388824	NM_005986.3(SOX1):c.886G>C (p.Ala296Pro)	SOX1, SOX1-OT (A296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388419	NM_005986.3(SOX1):c.862G>A (p.Ala288Thr)	SOX1, SOX1-OT (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382053	NM_005986.3(SOX1):c.668A>C (p.His223Pro)	SOX1, SOX1-OT (H223P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381354	NM_005986.3(SOX1):c.1051G>A (p.Gly351Ser)	SOX1, SOX1-OT (G351S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2352496	NM_005986.3(SOX1):c.482T>C (p.Val161Ala)	SOX1, SOX1-OT (V161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306255	NM_005986.3(SOX1):c.788A>G (p.Gln263Arg)	SOX1, SOX1-OT (Q263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302362	NM_005986.3(SOX1):c.941T>C (p.Leu314Pro)	SOX1, SOX1-OT (L314P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253506	NM_005986.3(SOX1):c.128G>A (p.Gly43Asp)	SOX1, SOX1-OT (G43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251034	NM_005986.3(SOX1):c.547C>T (p.His183Tyr)	SOX1, SOX1-OT (H183Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241658	NM_005986.3(SOX1):c.383C>T (p.Thr128Met)	SOX1, SOX1-OT (T128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230445	NM_005986.3(SOX1):c.674A>C (p.His225Pro)	SOX1, SOX1-OT (H225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229442	NM_005986.3(SOX1):c.704A>C (p.His235Pro)	SOX1, SOX1-OT (H235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226842	NM_005986.3(SOX1):c.680A>C (p.His227Pro)	SOX1, SOX1-OT (H227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217673	NM_005986.3(SOX1):c.112G>A (p.Gly38Ser)	SOX1, SOX1-OT (G38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808565	GRCh37/hg19 13q34(chr13:112704120-113035378)x3	SOX1, SPACA7	Copy number gain	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 1333006	Single allele	ANKRD10, ANKRD10-IT1 +17 more	Deletion	Factor X deficiency +1 more	GLikely pathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 779648	NM_005986.3(SOX1):c.27C>T (p.Asp9=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716996	NM_005986.3(SOX1):c.1101G>A (p.Arg367=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712143	NM_005986.3(SOX1):c.378C>T (p.Thr126=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic
Select item 684896	GRCh37/hg19 13q34(chr13:112352288-112990608)x3	SOX1	Copy number gain	not provided	GUncertain significance
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564078	GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1	ARGLU1, COL4A1 +24 more	Copy number loss	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564076	GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	PCID2, TUBGCP3 +39 more	Copy number gain	not provided	GPathogenic
Select item 564074	GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1	CDC16, MCF2L +36 more	Copy number loss	not provided	GPathogenic
Select item 564069	GRCh37/hg19 13q34(chr13:112530842-115107733)x1	CHAMP1, F7 +23 more	Copy number loss	not provided	GPathogenic
Select item 564029	GRCh37/hg19 13q34(chr13:112698825-113034913)x3	SPACA7, SOX1	Copy number gain	not provided	GUncertain significance
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABHD13, ADPRHL1 +98 more	Copy number gain	See cases	GPathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic

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