VCPKMT[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 1611	L2HGDH, EX1-9DEL	L2HGDH, LINC01588 +30 more	Deletion	L-2-hydroxyglutaric aciduria	GPathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 3331961	NM_024558.3(VCPKMT):c.680T>C (p.Phe227Ser)	VCPKMT (F192S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331962	NM_024558.3(VCPKMT):c.674C>T (p.Ser225Leu)	VCPKMT (S225L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407753	NM_024558.3(VCPKMT):c.672A>C (p.Lys224Asn)	VCPKMT (K224N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208723	NM_024558.3(VCPKMT):c.666G>C (p.Lys222Asn)	VCPKMT (K222N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3331964	NM_024558.3(VCPKMT):c.635G>A (p.Ser212Asn)	VCPKMT (S212N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276031	NM_024558.3(VCPKMT):c.605C>A (p.Pro202His)	VCPKMT (P202H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3188373	NM_024558.3(VCPKMT):c.604C>T (p.Pro202Ser)	VCPKMT (P202S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595245	NM_024558.3(VCPKMT):c.574C>T (p.Leu192Phe)	VCPKMT (L192F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536342	NM_024558.3(VCPKMT):c.508A>G (p.Ile170Val)	VCPKMT (I170V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188372	NM_024558.3(VCPKMT):c.490G>A (p.Gly164Arg)	VCPKMT (G164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331960	NM_024558.3(VCPKMT):c.482A>G (p.Asp161Gly)	VCPKMT (D161G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317330	NM_024558.3(VCPKMT):c.443A>G (p.Tyr148Cys)	VCPKMT (Y148C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188371	NM_024558.3(VCPKMT):c.433T>A (p.Cys145Ser)	VCPKMT (C145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556740	NM_024558.3(VCPKMT):c.394G>A (p.Gly132Ser)	VCPKMT (G132S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188370	NM_024558.3(VCPKMT):c.386A>G (p.Glu129Gly)	VCPKMT (E129G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475807	NM_024558.3(VCPKMT):c.283A>C (p.Thr95Pro)	VCPKMT (T95P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350682	NM_024558.3(VCPKMT):c.209C>T (p.Ser70Leu)	VCPKMT (S70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206259	NM_024558.3(VCPKMT):c.140T>C (p.Ile47Thr)	VCPKMT (I47T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 652104	NM_024558.3(VCPKMT):c.99T>G (p.Tyr33Ter)	VCPKMT (Y33*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2473086	NM_024558.3(VCPKMT):c.52C>G (p.Arg18Gly)	VCPKMT (R18G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331959	NM_024558.3(VCPKMT):c.35C>A (p.Pro12Gln)	LOC130055587, VCPKMT (P12Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346070	NM_024558.3(VCPKMT):c.35C>T (p.Pro12Leu)	LOC130055587, VCPKMT (P12L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331963	NM_024558.3(VCPKMT):c.29A>C (p.Glu10Ala)	LOC130055587, VCPKMT (E10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188369	NM_024558.3(VCPKMT):c.26T>C (p.Leu9Pro)	LOC130055587, VCPKMT (L9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 815655	GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3	NEMF, SAV1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 35