"Ambry Genetics"[submitter] AND "LOC101928317"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214348	NM_024829.6(PLBD1):c.794T>C (p.Val265Ala)	LOC101928317, PLBD1 (V265A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2325472	NM_024829.6(PLBD1):c.698A>G (p.Lys233Arg)	LOC101928317, PLBD1 (K233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275017	NM_024829.6(PLBD1):c.688G>A (p.Ala230Thr)	LOC101928317, PLBD1 (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485347	NM_024829.6(PLBD1):c.661A>G (p.Lys221Glu)	LOC101928317, PLBD1 (K221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214346	NM_024829.6(PLBD1):c.634A>G (p.Thr212Ala)	LOC101928317, PLBD1 (T212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516083	NM_024829.6(PLBD1):c.496A>G (p.Met166Val)	LOC101928317, PLBD1 (M166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368153	NM_024829.6(PLBD1):c.344A>G (p.Asn115Ser)	LOC101928317, PLBD1 (N115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar