"Eurofins Ntd Llc (ga)"[submitter] AND "POLR2F"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 227081	NM_006941.4(SOX10):c.927T>C (p.His309=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	Waardenburg syndrome type 4C +5 more	GBenign
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 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 598624	NM_006941.4(SOX10):c.604_605del (p.Ala202fs)	POLR2F, SOX10 (A202fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 499498	NM_006941.4(SOX10):c.574G>A (p.Gly192Ser)	POLR2F, SOX10 (G192S)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 505146	NM_006941.4(SOX10):c.72C>T (p.Ser24=)	POLR2F, SOX10	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity

ClinVar