"Ambry Genetics"[submitter] AND "LOC126861128"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2226134	NM_003621.5(PPFIBP2):c.2156C>G (p.Ser719Cys)	LOC126861128, PPFIBP2 (S730C +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366686	NM_003621.5(PPFIBP2):c.2219G>A (p.Arg740Gln)	LOC126861128, PPFIBP2 (R597Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379286	NM_003621.5(PPFIBP2):c.2254G>C (p.Glu752Gln)	LOC126861128, PPFIBP2 (E686Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370866	NM_003621.5(PPFIBP2):c.2309A>G (p.Lys770Arg)	LOC126861128, PPFIBP2 (K627R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285240	NM_003621.5(PPFIBP2):c.2381G>A (p.Arg794Gln)	LOC126861128, PPFIBP2 (R651Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346649	NM_003621.5(PPFIBP2):c.2435G>A (p.Arg812Gln)	LOC126861128, PPFIBP2 (R812Q +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar