11189[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 57684	GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1	ABHD13, ADPRHL1 +369 more	Copy number loss	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 147642	GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3	ABHD13, ADPRHL1 +360 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 148757	GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1	LOC121468007, LOC121838584 +339 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 155263	GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1	ABHD13, ADPRHL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance
Select item 151756	GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1	LOC116268457, LOC121468007 +321 more	Copy number loss	See cases	GPathogenic
Select item 57471	GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1	ABHD13, ADPRHL1 +318 more	Copy number loss	See cases	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 148614	GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1	ABHD13, ADPRHL1 +302 more	Copy number loss	See cases	GPathogenic
Select item 152966	GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1	LOC130010121, LOC130010122 +156 more	Copy number loss	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 33799	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 56998	GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1	ADPRHL1, ANKRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 155035	GRCh38/hg38 13q34(chr13:110857896-114342258)x1	ADPRHL1, ANKRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 148303	GRCh38/hg38 13q34(chr13:111118651-114340331)x3	MCF2L, MCF2L-AS1 +158 more	Copy number gain	See cases	GLikely pathogenic
Select item 152704	GRCh38/hg38 13q34(chr13:111200986-114340331)x1	ADPRHL1, ARHGEF7 +149 more	Copy number loss	See cases	GPathogenic
Select item 148895	GRCh38/hg38 13q34(chr13:111355741-114340331)x1	ADPRHL1, ATP11A +143 more	Copy number loss	See cases	GPathogenic
Select item 59927	GRCh38/hg38 13q34(chr13:111439396-114327173)x3	ADPRHL1, ATP11A +141 more	Copy number gain	See cases	GPathogenic
Select item 57714	GRCh38/hg38 13q34(chr13:111541166-113671678)x1	ADPRHL1, ATP11A +83 more	Copy number loss	See cases	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 779648	NM_005986.3(SOX1):c.27C>T (p.Asp9=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3041721	NM_005986.3(SOX1):c.81G>C (p.Gly27=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign
Select item 3033442	NM_005986.3(SOX1):c.84G>C (p.Ala28=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign
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 3035921	NM_005986.3(SOX1):c.119_130del (p.Gly40_Gly43del)	SOX1, SOX1-OT	Deletion	SOX1-related disorder	GLikely benign
Select item 3321592	NM_005986.3(SOX1):c.127G>T (p.Gly43Cys)	SOX1, SOX1-OT (G43C)	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 712143	NM_005986.3(SOX1):c.378C>T (p.Thr126=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3321598	NM_005986.3(SOX1):c.388C>T (p.Leu130Phe)	SOX1, SOX1-OT (L130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3321597	NM_005986.3(SOX1):c.549C>A (p.His183Gln)	SOX1, SOX1-OT (H183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321601	NM_005986.3(SOX1):c.665C>G (p.Ala222Gly)	SOX1, SOX1-OT (A222G)	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 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 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 2643961	NM_005986.3(SOX1):c.686CGCACC[2] (p.231PH[1])	SOX1, SOX1-OT	Microsatellite (inframe_deletion)	not provided	GLikely benign
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 3041267	NM_005986.3(SOX1):c.718_723dup (p.His241_Asn242insProHis)	SOX1, SOX1-OT	Duplication	SOX1-related disorder	GBenign
Select item 3321599	NM_005986.3(SOX1):c.736A>G (p.Met246Val)	SOX1, SOX1-OT (M246V)	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 3321594	NM_005986.3(SOX1):c.796A>G (p.Met266Val)	SOX1, SOX1-OT (M266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321595	NM_005986.3(SOX1):c.824G>C (p.Gly275Ala)	SOX1, SOX1-OT (G275A)	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 3038021	NM_005986.3(SOX1):c.846CGC[4] (p.Ala288del)	SOX1, SOX1-OT (A288del)	Microsatellite	SOX1-related disorder	GLikely benign
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 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 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 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 3321596	NM_005986.3(SOX1):c.890T>C (p.Val297Ala)	SOX1, SOX1-OT (V297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038033	NM_005986.3(SOX1):c.891GGC[7] (p.Ala306del)	SOX1, SOX1-OT (A306del)	Microsatellite	SOX1-related disorder	GLikely benign
Select item 3041816	NM_005986.3(SOX1):c.909G>C (p.Ala303=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign
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 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 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 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 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 3321600	NM_005986.3(SOX1):c.1036A>G (p.Met346Val)	SOX1, SOX1-OT (M346V)	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	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 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 716996	NM_005986.3(SOX1):c.1101G>A (p.Arg367=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3321602	NM_005986.3(SOX1):c.1153A>T (p.Thr385Ser)	SOX1, SOX1-OT (T385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043263	NM_005986.3(SOX1):c.1155G>A (p.Thr385=)	SOX1, SOX1-OT	Single nucleotide variant (synonymous variant)	SOX1-related disorder	GLikely benign
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
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

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