"Ambry Genetics"[submitter] AND "LOC100132686"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215213	NM_001145024.1(PLET1):c.179A>G (p.Tyr60Cys)	LOC100132686, PLET1 (Y60C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3307725	NM_001145024.1(PLET1):c.170A>G (p.Asn57Ser)	LOC100132686, PLET1 (N57S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349118	NM_001145024.1(PLET1):c.155A>G (p.His52Arg)	LOC100132686, PLET1 (H52R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462496	NM_001145024.1(PLET1):c.111T>G (p.Phe37Leu)	LOC100132686, PLET1 (F37L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481602	NM_001145024.1(PLET1):c.47T>C (p.Leu16Pro)	LOC100132686, PLET1 (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263833	NM_001145024.1(PLET1):c.26T>C (p.Leu9Pro)	LOC100132686, PLET1 (L9P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

ClinVar