"Ambry Genetics"[submitter] AND "BUD31"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2297074	NM_003910.4(BUD31):c.86T>C (p.Met29Thr)	BUD31 (M29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135635	NM_003910.4(BUD31):c.104A>G (p.Glu35Gly)	BUD31 (E35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470053	NM_003910.4(BUD31):c.194A>G (p.Tyr65Cys)	BUD31 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515867	NM_003910.4(BUD31):c.311G>C (p.Arg104Pro)	ATP5MF-PTCD1, BUD31 +1 more (R104P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3135636	NM_003910.4(BUD31):c.361G>A (p.Val121Met)	ATP5MF-PTCD1, BUD31 +1 more (V121M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559535	NM_003910.4(BUD31):c.428C>G (p.Ser143Cys)	ATP5MF-PTCD1, BUD31 +1 more (S143C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

ClinVar