"Ambry Genetics"[submitter] AND "BPNT1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2332526	NM_006085.6(BPNT1):c.733A>G (p.Lys245Glu)	BPNT1 (K190E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315897	NM_006085.6(BPNT1):c.650G>A (p.Arg217Gln)	BPNT1 (R162Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316614	NM_006085.6(BPNT1):c.583A>G (p.Thr195Ala)	BPNT1 (T140A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535789	NM_006085.6(BPNT1):c.529G>A (p.Ala177Thr)	BPNT1 (A141T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529179	NM_006085.6(BPNT1):c.454C>A (p.Gln152Lys)	BPNT1 (Q116K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261399	NM_006085.6(BPNT1):c.410T>C (p.Ile137Thr)	BPNT1 (I101T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134876	NM_006085.6(BPNT1):c.260T>C (p.Ile87Thr)	BPNT1 (I32T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617341	NM_006085.6(BPNT1):c.188C>T (p.Ala63Val)	BPNT1 (A63V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324597	NM_006085.6(BPNT1):c.168G>A (p.Met56Ile)	BPNT1 (M56I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134875	NM_006085.6(BPNT1):c.155G>A (p.Arg52Gln)	BPNT1 (R52Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2368259	NM_006085.6(BPNT1):c.122C>A (p.Thr41Asn)	BPNT1 (T41N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance