ClinVar for MedGen (Select 398476) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065488	NM_006941.4(SOX10):c.389A>G (p.His130Arg)	POLR2F, SOX10 (H130R)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GUncertain significance
Select item 2573061	NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)	POLR2F, SOX10 (Y318*)	Duplication (frameshift variant +2 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 2445675	NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)	POLR2F, SOX10 (Q399fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 2444323	NM_006941.4(SOX10):c.356_357del (p.Arg119fs)	POLR2F, SOX10 (R119fs)	Microsatellite (frameshift variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 1878656	NM_006941.4(SOX10):c.404_405delinsTT (p.Ser135Ile)	POLR2F, SOX10 (S135I)	Indel (missense variant +1 more)	Waardenburg syndrome type 2E	GUncertain significance
Select item 1709423	NM_006941.4(SOX10):c.274G>A (p.Val92Met)	POLR2F, SOX10 (V92M)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E +1 more	GUncertain significance
Select item 1704560	NM_006941.4(SOX10):c.1086dup (p.Pro363fs)	POLR2F, SOX10 (P363fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1407649	NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)	POLR2F, SOX10 (R161C)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1301868	NM_006941.4(SOX10):c.707_714del (p.His236fs)	POLR2F, SOX10 (H236fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GUncertain significance
Select item 1220524	NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter)	POLR2F, SOX10 (Q5*)	Indel (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 1205874	NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)	POLR2F, SOX10 (G365R)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E +3 more	GConflicting classifications of pathogenicity
Select item 1185090	NM_006941.4(SOX10):c.520C>T (p.Gln174Ter)	POLR2F, SOX10 (Q174*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 1048555	NM_006941.4(SOX10):c.529_556del (p.Arg177fs)	POLR2F, SOX10 (R177fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 1048554	NM_006941.4(SOX10):c.198_262del (p.Lys67fs)	POLR2F, SOX10 (K67fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	GPathogenic
Select item 995940	NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)	POLR2F, SOX10 (Q399*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E +1 more	GPathogenic
Select item 995939	NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)	POLR2F, SOX10 (Q355*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995938	NM_006941.4(SOX10):c.776_780del (p.Asp259fs)	POLR2F, SOX10 (D259fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995937	NM_006941.4(SOX10):c.502del (p.His168fs)	POLR2F, SOX10 (H168fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995936	NM_006941.4(SOX10):c.463G>T (p.Glu155Ter)	POLR2F, SOX10 (E155*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995935	NM_006941.4(SOX10):c.448A>T (p.Lys150Ter)	POLR2F, SOX10 (K150*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995934	NM_006941.4(SOX10):c.428+1G>A	POLR2F, SOX10	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995933	NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)	POLR2F, SOX10 (L129P)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 995932	NM_006941.4(SOX10):c.341G>A (p.Trp114Ter)	POLR2F, SOX10 (W114*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995931	NM_006941.4(SOX10):c.335T>G (p.Met112Arg)	POLR2F, SOX10 (M112R)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 995930	NM_006941.4(SOX10):c.326A>G (p.Asn109Ser)	POLR2F, SOX10 (N109S)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 995929	NM_006941.4(SOX10):c.323T>C (p.Met108Thr)	POLR2F, SOX10 (M108T)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 995928	NM_006941.4(SOX10):c.7G>T (p.Glu3Ter)	POLR2F, SOX10 (E3*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 986733	NM_006941.4(SOX10):c.644G>A (p.Arg215Gln)	POLR2F, SOX10 (R215Q)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E +1 more	GUncertain significance
Select item 915460	NM_006941.4(SOX10):c.1379del (p.Tyr460fs)	POLR2F, SOX10 (Y460fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 915452	NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)	POLR2F, SOX10 (L160P)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 873468	NM_006941.4(SOX10):c.482G>A (p.Arg161His)	POLR2F, SOX10 (R161H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 809360	NM_006941.4(SOX10):c.768G>A (p.Pro256=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	PCWH syndrome +3 more	GConflicting classifications of pathogenicity
Select item 805532	NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)	POLR2F, SOX10 (H454fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 2E +3 more	GPathogenic/Likely pathogenic
Select item 801016	NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)	POLR2F, SOX10 (W142C)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 692195	NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)	POLR2F, SOX10 (S135G)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 635541	NM_006941.4(SOX10):c.428+2T>C	POLR2F, SOX10	Single nucleotide variant (intron variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 599071	NM_006941.4(SOX10):c.487C>T (p.Gln163Ter)	POLR2F, SOX10 (Q163*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 547778	NM_006941.4(SOX10):c.334A>G (p.Met112Val)	POLR2F, SOX10 (M112V)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C +2 more	GUncertain significance
Select item 547774	NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)	POLR2F, SOX10 (R43*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C +2 more	GPathogenic
Select item 545014	NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter)	POLR2F, SOX10 (S390*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E	GPathogenic
Select item 545013	NM_006941.4(SOX10):c.415G>T (p.Gly139Cys)	POLR2F, SOX10 (G139C)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GUncertain significance
Select item 523884	NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)	POLR2F, SOX10 (Q78*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 521356	NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)	POLR2F, SOX10 (P175S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 514334	NM_006941.4(SOX10):c.975C>T (p.Ala325=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome +5 more	GBenign/Likely benign
Select item 505653	NM_006941.4(SOX10):c.424T>C (p.Trp142Arg)	POLR2F, SOX10 (W142R)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness +1 more	GPathogenic/Likely pathogenic
Select item 374266	NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)	POLR2F, SOX10 (R106G)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E	GLikely pathogenic
Select item 229266	NM_006941.4(SOX10):c.211T>G (p.Cys71Gly)	POLR2F, SOX10 (C71G)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E +3 more	GUncertain significance
Select item 227081	NM_006941.4(SOX10):c.927T>C (p.His309=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	PCWH syndrome +5 more	GBenign

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Links from MedGen

Items: 49