"Ambry Genetics"[submitter] AND "FMC1-LUC7L2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2281780	NM_016019.5(LUC7L2):c.373C>T (p.Arg125Cys)	FMC1-LUC7L2, LUC7L2 (R122C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540014	NM_016019.5(LUC7L2):c.737G>A (p.Arg246Gln)	FMC1-LUC7L2, LUC7L2 (R246Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513162	NM_016019.5(LUC7L2):c.928C>T (p.Arg310Cys)	FMC1-LUC7L2, LOC100129148 +1 more (R309C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509244	NM_016019.5(LUC7L2):c.959G>A (p.Arg320Gln)	FMC1-LUC7L2, LOC100129148 +1 more (R317Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321384	NM_016019.5(LUC7L2):c.1105C>T (p.Arg369Trp)	LUC7L2, FMC1-LUC7L2 +1 more (R368W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301420	NM_016019.5(LUC7L2):c.1160G>A (p.Arg387His)	FMC1-LUC7L2, LUC7L2 +1 more (R384H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar