"SOX10-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042538	NM_006941.4(SOX10):c.1377A>G (p.Val459=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder	GLikely benign
Select item 2037393	NM_006941.4(SOX10):c.1269G>A (p.Ser423=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 703593	NM_006941.4(SOX10):c.1080C>T (p.Thr360=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder +1 more	GBenign/Likely benign
Select item 767431	NM_006941.4(SOX10):c.1077G>C (p.Glu359Asp)	POLR2F, SOX10 (E359D)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3029427	NM_006941.4(SOX10):c.882G>A (p.Val294=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder	GLikely benign
Select item 1201452	NM_006941.4(SOX10):c.825C>T (p.Asn275=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder +1 more	GLikely benign
Select item 227960	NM_006941.4(SOX10):c.822C>T (p.Gly274=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	PCWH syndrome +4 more	GBenign/Likely benign
Select item 517217	NM_006941.4(SOX10):c.773G>A (p.Arg258Gln)	POLR2F, SOX10 (R258Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 3032652	NM_006941.4(SOX10):c.735G>A (p.Pro245=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder	GLikely benign
Select item 759071	NM_006941.4(SOX10):c.723T>A (p.Pro241=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder +1 more	GLikely benign
Select item 680027	NM_006941.4(SOX10):c.604G>A (p.Ala202Thr)	POLR2F, SOX10 (A202T)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder +1 more	GLikely benign
Select item 702633	NM_006941.4(SOX10):c.600C>T (p.Thr200=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	SOX10-related disorder +1 more	GBenign/Likely benign
Select item 499498	NM_006941.4(SOX10):c.574G>A (p.Gly192Ser)	POLR2F, SOX10 (G192S)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2633050	NM_006941.4(SOX10):c.536_566dup (p.Cys190fs)	POLR2F, SOX10 (C190fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 3056703	NM_006941.4(SOX10):c.543del (p.Lys182fs)	POLR2F, SOX10 (K182fs)	Deletion (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 2633950	NM_006941.4(SOX10):c.442dup (p.Ser148fs)	POLR2F, SOX10 (S148fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 2637156	NM_006941.4(SOX10):c.431T>C (p.Leu144Pro)	POLR2F, SOX10 (L144P)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder	GUncertain significance
Select item 1189414	NM_006941.4(SOX10):c.429-19G>A	POLR2F, SOX10	Single nucleotide variant (intron variant)	SOX10-related disorder +1 more	GBenign/Likely benign
Select item 995929	NM_006941.4(SOX10):c.323T>C (p.Met108Thr)	POLR2F, SOX10 (M108T)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 2E +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)	Hearing impairment +4 more	GConflicting classifications of pathogenicity
Select item 2630501	NM_006941.4(SOX10):c.231_234dup (p.Val79fs)	POLR2F, SOX10 (V79fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 452278	NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)	POLR2F, SOX10 (A44G)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 547774	NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)	POLR2F, SOX10 (R43*)	Single nucleotide variant (nonsense +1 more)	SOX10-related disorder +2 more	GPathogenic
Select item 505146	NM_006941.4(SOX10):c.72C>T (p.Ser24=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3030613	NM_006941.4(SOX10):c.13C>G (p.Gln5Glu)	POLR2F, SOX10 (Q5E)	Single nucleotide variant (missense variant +1 more)	SOX10-related disorder	GUncertain significance
Select item 2636900	NM_006941.4(SOX10):c.10dup (p.Glu4fs)	POLR2F, SOX10 (E4fs)	Duplication (frameshift variant +1 more)	SOX10-related disorder	GLikely pathogenic
Select item 156719	NM_001301130.2(POLR2F):c.453-24294G>C	POLR2F, SOX10	Single nucleotide variant (intron variant)	SOX10-related disorder +1 more	GBenign/Likely benign

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Items: 27