"Ambry Genetics"[submitter] AND "CNPY3-GNMT"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146655	NM_006586.5(CNPY3):c.22G>C (p.Ala8Pro)	CNPY3, CNPY3-GNMT (A8P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601555	NM_006586.5(CNPY3):c.56T>C (p.Leu19Pro)	CNPY3, CNPY3-GNMT (L19P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367744	NM_006586.5(CNPY3):c.68T>C (p.Leu23Pro)	CNPY3, CNPY3-GNMT (L23P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291104	NM_006586.5(CNPY3):c.74T>C (p.Leu25Pro)	CNPY3, CNPY3-GNMT (L25P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1028525	NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser)	CNPY3, CNPY3-GNMT (G67S)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1190342	NM_006586.5(CNPY3):c.292G>A (p.Glu98Lys)	CNPY3, CNPY3-GNMT (E131K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2527501	NM_006586.5(CNPY3):c.347G>C (p.Arg116Thr)	CNPY3, CNPY3-GNMT (R116T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2374475	NM_006586.5(CNPY3):c.352G>A (p.Gly118Ser)	CNPY3, CNPY3-GNMT (G118S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2237376	NM_006586.5(CNPY3):c.691A>T (p.Ser231Cys)	CNPY3, CNPY3-GNMT (S264C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303923	NM_006586.5(CNPY3):c.799G>C (p.Ala267Pro)	CNPY3, CNPY3-GNMT (A267P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2072206	NM_018960.6(GNMT):c.49G>A (p.Gly17Arg)	CNPY3-GNMT, GNMT (G17R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2592867	NM_018960.6(GNMT):c.88G>A (p.Val30Met)	CNPY3-GNMT, GNMT (V30M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100661	NM_018960.6(GNMT):c.101A>G (p.Tyr34Cys)	CNPY3-GNMT, GNMT (Y34C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100662	NM_018960.6(GNMT):c.194C>T (p.Ala65Val)	CNPY3-GNMT, GNMT (A65V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100663	NM_018960.6(GNMT):c.259G>A (p.Ala87Thr)	CNPY3-GNMT, GNMT (A21T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458339	NM_018960.6(GNMT):c.312C>G (p.His104Gln)	CNPY3-GNMT, GNMT (H104Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100664	NM_018960.6(GNMT):c.487A>G (p.Ile163Val)	CNPY3-GNMT, GNMT (I97V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 860853	NM_018960.6(GNMT):c.508G>C (p.Gly170Arg)	CNPY3-GNMT, GNMT (G104R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2484418	NM_018960.6(GNMT):c.554G>T (p.Ser185Ile)	CNPY3-GNMT, GNMT (S119I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2043793	NM_018960.6(GNMT):c.805G>A (p.Val269Ile)	CNPY3-GNMT, GNMT (V172I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3100665	NM_018960.6(GNMT):c.814G>A (p.Asp272Asn)	CNPY3-GNMT, GNMT (D206N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21