"Ambry Genetics"[submitter] AND "PCYT1B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210508	NM_004845.5(PCYT1B):c.994C>T (p.Arg332Cys)	PCYT1B (R332C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532566	NM_004845.5(PCYT1B):c.928A>C (p.Met310Leu)	PCYT1B (M310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291804	NM_004845.5(PCYT1B):c.485A>G (p.Lys162Arg)	PCYT1B (K144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261458	NM_004845.5(PCYT1B):c.172C>A (p.Pro58Thr)	PCYT1B (P40T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210506	NM_004845.5(PCYT1B):c.162G>C (p.Gln54His)	PCYT1B (Q36H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594109	NM_004845.5(PCYT1B):c.61G>A (p.Glu21Lys)	PCYT1B (E21K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar