Related gene-specific medical variations for Gene (Select 100505996) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 3041267	NM_005986.3(SOX1):c.718_723dup (p.His241_Asn242insProHis)	SOX1, SOX1-OT	Duplication	SOX1-related disorder	GBenign
Select item 3038033	NM_005986.3(SOX1):c.891GGC[7] (p.Ala306del)	SOX1, SOX1-OT (A306del)	Microsatellite	SOX1-related disorder	GLikely benign
Select item 3038021	NM_005986.3(SOX1):c.846CGC[4] (p.Ala288del)	SOX1, SOX1-OT (A288del)	Microsatellite	SOX1-related disorder	GLikely benign
Select item 3035921	NM_005986.3(SOX1):c.119_130del (p.Gly40_Gly43del)	SOX1, SOX1-OT	Deletion	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 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 2643960	NC_000013.11:g.112015166T>C	SOX1-OT	Single nucleotide variant	not provided	GLikely benign
Select item 2643959	NC_000013.11:g.112014954_112014989del	SOX1-OT	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 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	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 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 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

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Links from Gene

Items: 51