"Ambry Genetics"[submitter] AND "PSMC3IP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606627	NM_016556.4(PSMC3IP):c.634G>T (p.Val212Phe)	MLX, PSMC3IP (V212F +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606626	NM_016556.4(PSMC3IP):c.509G>A (p.Cys170Tyr)	PSMC3IP (C107Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475979	NM_016556.4(PSMC3IP):c.379C>G (p.Gln127Glu)	PSMC3IP (Q115E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538400	NM_016556.4(PSMC3IP):c.100G>C (p.Gly34Arg)	PSMC3IP (G34R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2214264	NM_016556.4(PSMC3IP):c.14G>A (p.Arg5Gln)	LOC130060911, PSMC3IP (R5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2047076	NM_016556.4(PSMC3IP):c.13C>T (p.Arg5Trp)	LOC130060911, PSMC3IP (R5W)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar