"WangQJ Lab, Chinese People's Liberation Army General Hospital"[submit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1185066	NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter)	POLR2F, SOX10 (Y126*)	Single nucleotide variant (nonsense +1 more)	not provided	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

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