ClinVar for MedGen (Select 373160) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441943	NM_006941.4(SOX10):c.671C>A (p.Ser224Ter)	POLR2F, SOX10 (S224*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic
Select item 1407649	NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)	POLR2F, SOX10 (R161C)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1329465	NM_006941.4(SOX10):c.850G>T (p.Glu284Ter)	POLR2F, SOX10 (E284*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GLikely pathogenic
Select item 1329464	NM_006941.4(SOX10):c.966dup (p.Ala323fs)	POLR2F, SOX10 (A323fs)	Duplication (frameshift variant +1 more)	PCWH syndrome	GPathogenic
Select item 1329463	NM_006941.4(SOX10):c.395C>G (p.Ala132Gly)	POLR2F, SOX10 (A132G)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome	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 1065839	NM_006941.4(SOX10):c.267del (p.Met90fs)	POLR2F, SOX10 (M90fs)	Deletion (frameshift variant +1 more)	PCWH syndrome +1 more	GPathogenic
Select item 1065613	NM_006941.4(SOX10):c.1400A>T (p.Ter467Leu)	POLR2F, SOX10	Single nucleotide variant (stop lost +1 more)	PCWH syndrome	GLikely pathogenic
Select item 1027698	NM_006941.4(SOX10):c.181G>A (p.Gly61Ser)	POLR2F, SOX10 (G61S)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome +1 more	GUncertain significance
Select item 1027697	NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser)	POLR2F, SOX10 (G389S)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome +1 more	GUncertain significance
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 976284	NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)	POLR2F, SOX10 (S314*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic
Select item 915461	NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)	POLR2F, SOX10 (W142S)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome	GPathogenic
Select item 915453	NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs)	POLR2F, SOX10 (F392fs)	Duplication (frameshift variant +1 more)	PCWH syndrome	GPathogenic
Select item 903367	NM_006941.4(SOX10):c.-29A>G	POLR2F, SOX10	Single nucleotide variant (5 prime UTR variant +1 more)	Waardenburg syndrome +2 more	GUncertain significance
Select item 903366	NM_006941.4(SOX10):c.-9G>A	POLR2F, SOX10	Single nucleotide variant (5 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 903229	NM_006941.4(SOX10):c.*830G>C	LOC129391280, POLR2F +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 902512	NM_006941.4(SOX10):c.135C>T (p.Ser45=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 902511	NM_006941.4(SOX10):c.202T>C (p.Phe68Leu)	POLR2F, SOX10 (F68L)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 902433	NM_006941.4(SOX10):c.976G>A (p.Val326Met)	POLR2F, SOX10 (V326M)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +2 more	GUncertain significance
Select item 902432	NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn)	POLR2F, SOX10 (D371N)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +2 more	GUncertain significance
Select item 902431	NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr)	POLR2F, SOX10 (D371Y)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 900755	NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu)	POLR2F, SOX10 (S415L)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +2 more	GUncertain significance
Select item 900754	NM_006941.4(SOX10):c.*27G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GBenign
Select item 900753	NM_006941.4(SOX10):c.*327G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 899754	NM_006941.4(SOX10):c.-166C>T	POLR2F, SOX10	Single nucleotide variant (5 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 899689	NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)	POLR2F, SOX10 (A210T)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 899622	NM_006941.4(SOX10):c.*568T>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 872923	NM_006941.4(SOX10):c.207_208del (p.Cys71fs)	POLR2F, SOX10 (C71fs)	Deletion (frameshift variant +1 more)	PCWH syndrome	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)	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)	PCWH syndrome +3 more	GPathogenic/Likely pathogenic
Select item 733585	NM_006941.4(SOX10):c.918C>T (p.His306=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 702405	NM_006941.4(SOX10):c.274G>C (p.Val92Leu)	POLR2F, SOX10 (V92L)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +3 more	GConflicting classifications of pathogenicity
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 514334	NM_006941.4(SOX10):c.975C>T (p.Ala325=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 452278	NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)	POLR2F, SOX10 (A44G)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 341623	NM_006941.4(SOX10):c.-63A>G	POLR2F, SOX10	Single nucleotide variant (5 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341622	NM_006941.4(SOX10):c.122G>T (p.Gly41Val)	POLR2F, SOX10 (G41V)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +3 more	GBenign/Likely benign
Select item 341621	NM_006941.4(SOX10):c.429-12A>G	POLR2F, SOX10	Single nucleotide variant (intron variant)	Waardenburg syndrome +2 more	GBenign
Select item 341620	NM_006941.4(SOX10):c.507G>A (p.Pro169=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome +2 more	GBenign/Likely benign
Select item 341619	NM_006941.4(SOX10):c.585C>T (p.Ala195=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341618	NM_006941.4(SOX10):c.746T>A (p.Leu249Gln)	POLR2F, SOX10 (L249Q)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341617	NM_006941.4(SOX10):c.753G>A (p.Ser251=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome +3 more	GConflicting classifications of pathogenicity
Select item 341616	NM_006941.4(SOX10):c.906G>A (p.Pro302=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341615	NM_006941.4(SOX10):c.*158A>G	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341614	NM_006941.4(SOX10):c.*475G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +2 more	GBenign
Select item 341613	NM_006941.4(SOX10):c.*537G>C	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GBenign
Select item 341612	NM_006941.4(SOX10):c.*643A>G	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341611	NM_006941.4(SOX10):c.*711C>T	LOC129391280, POLR2F +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GBenign
Select item 341610	NM_006941.4(SOX10):c.*712G>T	LOC129391280, POLR2F +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 341609	NM_006941.4(SOX10):c.*932G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GLikely benign
Select item 341608	NM_006941.4(SOX10):c.*1084TC[1]	POLR2F, SOX10	Microsatellite (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GLikely benign
Select item 341607	NM_006941.4(SOX10):c.*1179G>A	POLR2F, SOX10	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 227960	NM_006941.4(SOX10):c.822C>T (p.Gly274=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	PCWH syndrome +3 more	GBenign/Likely benign
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
Select item 227080	NM_006941.4(SOX10):c.428+10C>G	POLR2F, SOX10	Single nucleotide variant (intron variant)	PCWH syndrome +3 more	GBenign/Likely benign
Select item 227079	NM_006941.4(SOX10):c.249C>T (p.Tyr83=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	PCWH syndrome +3 more	GBenign/Likely benign
Select item 227078	NM_006941.4(SOX10):c.18C>T (p.Asp6=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	PCWH syndrome +3 more	GBenign
Select item 133302	NM_006941.4(SOX10):c.1127C>G (p.Ser376Ter)	POLR2F, SOX10 (S376*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GLikely pathogenic
Select item 7412	NM_006941.4(SOX10):c.915del (p.His306fs)	POLR2F, SOX10 (H306fs)	Deletion (frameshift variant +1 more)	PCWH syndrome	GPathogenic
Select item 7411	NM_006941.4(SOX10):c.797del (p.Gly266fs)	POLR2F, SOX10 (G266fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
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 7400	NM_006941.4(SOX10):c.1400_*10del (p.Ter467Xaa)	POLR2F, SOX10	Deletion (stop lost +1 more)	PCWH syndrome	GLikely pathogenic
Select item 7399	NM_006941.4(SOX10):c.752C>A (p.Ser251Ter)	POLR2F, SOX10 (S251*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic
Select item 7398	NM_006941.4(SOX10):c.939C>G (p.Tyr313Ter)	POLR2F, SOX10 (Y313*)	Single nucleotide variant (nonsense +1 more)	PCWH syndrome	GPathogenic

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Items: 66