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

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308152	NM_002686.4(PNMT):c.10G>A (p.Ala4Thr)	LOC130060767, PNMT (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308153	NM_002686.4(PNMT):c.62C>A (p.Ala21Glu)	PNMT (A21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216005	NM_002686.4(PNMT):c.70G>T (p.Ala24Ser)	PNMT (A24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263456	NM_002686.4(PNMT):c.109C>T (p.Arg37Cys)	PNMT (R37C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235887	NM_002686.4(PNMT):c.122C>T (p.Ala41Val)	PNMT (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335122	NM_002686.4(PNMT):c.134G>C (p.Gly45Ala)	PNMT (G45A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351559	NM_002686.4(PNMT):c.142T>C (p.Cys48Arg)	PNMT (C48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215999	NM_002686.4(PNMT):c.176G>A (p.Arg59His)	PNMT (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552651	NM_002686.4(PNMT):c.211T>G (p.Ser71Ala)	PNMT (S71A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366830	NM_002686.4(PNMT):c.217C>T (p.Arg73Cys)	PNMT (R73C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216000	NM_002686.4(PNMT):c.221C>T (p.Thr74Ile)	PNMT (T74I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407128	NM_002686.4(PNMT):c.250G>A (p.Val84Met)	PNMT (V84M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402916	NM_002686.4(PNMT):c.251T>C (p.Val84Ala)	PNMT (V84A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216001	NM_002686.4(PNMT):c.298A>G (p.Thr100Ala)	PNMT (T100A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216002	NM_002686.4(PNMT):c.355G>C (p.Gly119Arg)	PNMT (G119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520689	NM_002686.4(PNMT):c.369G>C (p.Trp123Cys)	PNMT (W123C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216003	NM_002686.4(PNMT):c.386A>G (p.His129Arg)	PNMT (H129R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235272	NM_002686.4(PNMT):c.478C>T (p.His160Tyr)	PNMT (H160Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622770	NM_002686.4(PNMT):c.619C>T (p.Pro207Ser)	PNMT (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216004	NM_002686.4(PNMT):c.673G>T (p.Gly225Trp)	PNMT (G225W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308151	NM_002686.4(PNMT):c.676G>A (p.Glu226Lys)	PNMT (E226K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366226	NM_002686.4(PNMT):c.734G>A (p.Arg245His)	PNMT (R245H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2464578	NM_002686.4(PNMT):c.838G>C (p.Val280Leu)	PNMT (V280L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23