PNMT[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2263456	NM_002686.4(PNMT):c.109C>T (p.Arg37Cys)	PNMT (R37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235887	NM_002686.4(PNMT):c.122C>T (p.Ala41Val)	PNMT (A41V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720757	NM_002686.4(PNMT):c.123G>A (p.Ala41=)	PNMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2335122	NM_002686.4(PNMT):c.134G>C (p.Gly45Ala)	PNMT (G45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351559	NM_002686.4(PNMT):c.142T>C (p.Cys48Arg)	PNMT (C48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552651	NM_002686.4(PNMT):c.211T>G (p.Ser71Ala)	PNMT (S71A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366830	NM_002686.4(PNMT):c.217C>T (p.Arg73Cys)	PNMT (R73C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407128	NM_002686.4(PNMT):c.250G>A (p.Val84Met)	PNMT (V84M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402916	NM_002686.4(PNMT):c.251T>C (p.Val84Ala)	PNMT (V84A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520689	NM_002686.4(PNMT):c.369G>C (p.Trp123Cys)	PNMT (W123C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235272	NM_002686.4(PNMT):c.478C>T (p.His160Tyr)	PNMT (H160Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 770446	NM_002686.4(PNMT):c.523G>A (p.Ala175Thr)	PNMT (A175T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2622770	NM_002686.4(PNMT):c.619C>T (p.Pro207Ser)	PNMT (P207S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366226	NM_002686.4(PNMT):c.734G>A (p.Arg245His)	PNMT (R245H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2464578	NM_002686.4(PNMT):c.838G>C (p.Val280Leu)	PNMT (V280L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 26