"Ambry Genetics"[submitter] AND "IGLC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2519453	NM_001178126.2(IGLL5):c.445G>A (p.Ala149Thr)	IGLL5, IGL +1 more (A149T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258788	NM_001178126.2(IGLL5):c.494A>C (p.Lys165Thr)	IGLC1, IGL +1 more (K165T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295918	NM_001178126.2(IGLL5):c.508A>C (p.Ser170Arg)	IGL, IGLC1 +1 more (S95R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331353	NM_001178126.2(IGLL5):c.524C>T (p.Ala175Val)	IGL, IGLC1 +1 more (A100V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412076	NM_001178126.2(IGLL5):c.548C>T (p.Thr183Met)	IGL, IGLL5 +1 more (T183M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532594	NM_001178126.2(IGLL5):c.610G>A (p.Val204Met)	IGL, IGLC1 +1 more (V129M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar