"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "POLR2F"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683614	NM_006941.4(SOX10):c.1236T>A (p.Tyr412Ter)	POLR2F, SOX10 (Y412*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2683575	NM_006941.4(SOX10):c.932G>A (p.Ser311Asn)	POLR2F, SOX10 (S311N)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2499352	NM_006941.4(SOX10):c.752C>T (p.Ser251Leu)	POLR2F, SOX10 (S251L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961580	NM_006941.4(SOX10):c.601G>A (p.Ala201Thr)	POLR2F, SOX10 (A201T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 229265	NM_006941.4(SOX10):c.191A>T (p.Asp64Val)	POLR2F, SOX10 (D64V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3380720	NM_006941.4(SOX10):c.61C>G (p.Arg21Gly)	POLR2F, SOX10 (R21G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar