ClinVar for OMIM (Select 613266) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068654	NM_006941.4(SOX10):c.518A>G (p.Tyr173Cys)	POLR2F, SOX10 (Y173C)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GUncertain significance
Select item 3024094	NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)	POLR2F, SOX10 (Y126*)	Insertion (nonsense +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 2664339	NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)	POLR2F, SOX10 (Y171S)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 2663768	NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)	POLR2F, SOX10 (W114S)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 2584980	NM_006941.4(SOX10):c.576del (p.Glu194fs)	POLR2F, SOX10 (E194fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4C	GUncertain significance
Select item 1687264	NM_006941.4(SOX10):c.610C>T (p.Gln204Ter)	POLR2F, SOX10 (Q204*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 1407649	NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)	POLR2F, SOX10 (R161C)	Single nucleotide variant (missense variant +1 more)	Deafness with anatomical inner ear anomalies +4 more	GPathogenic/Likely pathogenic
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 1202633	NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)	POLR2F, SOX10 (K150E)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GPathogenic
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 1185089	NM_006941.4(SOX10):c.336G>T (p.Met112Ile)	POLR2F, SOX10 (M112I)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 1185066	NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter)	POLR2F, SOX10 (Y126*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1065048	NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)	POLR2F, SOX10 (C190*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 982663	NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)	POLR2F, SOX10 (A361T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931522	NM_006941.4(SOX10):c.718A>C (p.Thr240Pro)	POLR2F, SOX10 (T240P)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C +1 more	GUncertain significance
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 871833	NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)	POLR2F, SOX10 (S30*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 816906	NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)	POLR2F, SOX10 (S135N)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C +1 more	GPathogenic/Likely pathogenic
Select item 809360	NM_006941.4(SOX10):c.768G>A (p.Pro256=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	PCWH syndrome +3 more	GPathogenic/Likely pathogenic
Select item 804231	NM_006941.4(SOX10):c.979del (p.Ala327fs)	POLR2F, SOX10 (A327fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547786	NM_006941.4(SOX10):c.1095dup (p.Pro366fs)	POLR2F, SOX10 (P366fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547785	NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)	POLR2F, SOX10 (Q364*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C +1 more	GPathogenic
Select item 547784	NM_006941.4(SOX10):c.934dup (p.Ser312fs)	POLR2F, SOX10 (S312fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547783	NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)	POLR2F, SOX10 (E196*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547782	NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)	POLR2F, SOX10 (R151P)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547781	NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)	POLR2F, SOX10 (W142C)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547780	NM_006941.4(SOX10):c.380dup (p.His128fs)	POLR2F, SOX10 (H128fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547779	NM_006941.4(SOX10):c.364C>G (p.Leu122Val)	POLR2F, SOX10 (L122V)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
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 2E +2 more	GUncertain significance
Select item 547777	NM_006941.4(SOX10):c.301A>T (p.Lys101Ter)	POLR2F, SOX10 (K101*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547776	NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs)	POLR2F, SOX10 (S100fs)	Indel (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547775	NM_006941.4(SOX10):c.255_274dup (p.Val92fs)	POLR2F, SOX10 (V92fs)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 547774	NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)	POLR2F, SOX10 (R43*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 2E +2 more	GPathogenic
Select item 545010	GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1	ANKRD54, C22orf23 +17 more	Copy number loss	Waardenburg syndrome type 4C	GPathogenic
Select item 518422	NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer)	POLR2F, SOX10	Deletion (frameshift variant +2 more)	Waardenburg syndrome type 4C	GPathogenic
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 503991	NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)	POLR2F, SOX10	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 488044	NM_006941.4(SOX10):c.44_62del (p.Val15fs)	POLR2F, SOX10 (V15fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4C +1 more	GPathogenic/Likely pathogenic
Select item 422859	NM_006941.4(SOX10):c.141del (p.Pro48fs)	POLR2F, SOX10 (P48fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4C +1 more	GPathogenic/Likely pathogenic
Select item 229266	NM_006941.4(SOX10):c.211T>G (p.Cys71Gly)	POLR2F, SOX10 (C71G)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not provided +5 more	GBenign
Select item 133303	NM_006941.4(SOX10):c.271_275del (p.Pro91fs)	POLR2F, SOX10 (P91fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4C	GLikely pathogenic
Select item 7408	NM_006941.4(SOX10):c.470C>T (p.Ala157Val)	POLR2F, SOX10 (A157V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 7404	NM_006941.4(SOX10):c.698-740_1085delinsCCT	POLR2F, SOX10	Indel (intron variant +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 7403	NM_006941.4(SOX10):c.748C>T (p.Gln250Ter)	POLR2F, SOX10 (Q250*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic
Select item 7402	NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)	POLR2F, SOX10 (Q377*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 7401	NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter)	POLR2F, SOX10 (Y207*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 7396	NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)	POLR2F, SOX10 (E359fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 7395	NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)	POLR2F, SOX10	Insertion (inframe_insertion +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 7394	NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)	POLR2F, SOX10 (Y83*)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 4C	GPathogenic
Select item 7393	NM_006941.4(SOX10):c.565G>T (p.Glu189Ter)	POLR2F, SOX10 (E189*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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Links from OMIM

Items: 52