"NIMGenetics, NIMGenetics"[submitter] AND "SOX10"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329464	NM_006941.4(SOX10):c.966dup (p.Ala323fs)	POLR2F, SOX10 (A323fs)	Duplication (frameshift variant +1 more)	PCWH syndrome	GPathogenic
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 1329463	NM_006941.4(SOX10):c.395C>G (p.Ala132Gly)	POLR2F, SOX10 (A132G)	Single nucleotide variant (missense variant +1 more)	PCWH syndrome	GPathogenic

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