"PreventionGenetics, part of Exact Sciences"[submitter] AND "RNF113A"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2980539	NM_006978.3(RNF113A):c.993G>A (p.Leu331=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632676	NM_006978.3(RNF113A):c.992T>G (p.Leu331Trp)	RNF113A (L331W)	Single nucleotide variant (missense variant)	RNF113A-related disorder	GUncertain significance
Select item 1663687	NM_006978.3(RNF113A):c.285T>A (p.Ser95Arg)	RNF113A (S95R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 779484	NM_006978.3(RNF113A):c.264A>G (p.Glu88=)	RNF113A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635579	NM_006978.3(RNF113A):c.118C>G (p.Pro40Ala)	LOC130068621, RNF113A (P40A)	Single nucleotide variant (missense variant)	RNF113A-related disorder	GUncertain significance
Select item 1955551	NM_006978.3(RNF113A):c.74A>G (p.Lys25Arg)	LOC130068621, RNF113A (K25R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar