MVK[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 97893	NM_000431.1(MVK):c.-325A>T	MVK	Single nucleotide variant (genic upstream transcript variant)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 1211163	NC_000012.12:g.109573681T>A	MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 307087	NM_000431.4(MVK):c.-55G>C	MVK	Single nucleotide variant (5 prime UTR variant)	Mevalonic aciduria +1 more	GUncertain significance
Select item 307088	NM_000431.4(MVK):c.-33G>A	MVK	Single nucleotide variant (5 prime UTR variant)	Mevalonic aciduria +1 more	GUncertain significance
Select item 391960	NM_000431.4(MVK):c.-29C>T	MVK	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 307089	NM_000431.4(MVK):c.-15G>A	MVK	Single nucleotide variant (5 prime UTR variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 307090	NM_000431.4(MVK):c.-15+11G>A	MVK	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 389976	NM_000431.4(MVK):c.-15+16C>T	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +3 more	GLikely benign
Select item 1278576	NM_000431.4(MVK):c.-15+61G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287574	NM_000431.4(MVK):c.-14-147G>T	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292732	NM_000431.4(MVK):c.-14-104C>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669086	NM_000431.4(MVK):c.-14-17T>C	MVK	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 510281	NM_000431.4(MVK):c.-14-8C>T	MVK	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 97559	NM_000431.4(MVK):c.-13_78+1del	MVK	Deletion (splice acceptor variant +2 more)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 2925505	NM_000431.4(MVK):c.1A>C (p.Met1Leu)	MVK (M1L)	Single nucleotide variant (missense variant +3 more)	Hyperimmunoglobulin D with periodic fever +2 more	GPathogenic
Select item 2926235	NM_000431.4(MVK):c.9A>G (p.Ser3=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 234376	NM_000431.4(MVK):c.14T>C (p.Val5Ala)	MVK (V5A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 2954120	NM_000431.4(MVK):c.15C>T (p.Val5=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 11935	NM_000431.4(MVK):c.16_34del (p.Leu6fs)	MVK (L6fs)	Deletion (frameshift variant)	Mevalonic aciduria	GPathogenic
Select item 2230583	NM_000431.4(MVK):c.17T>A (p.Leu6Gln)	MVK (L6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175836	NM_000431.4(MVK):c.18A>G (p.Leu6=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +3 more	GLikely benign
Select item 1151893	NM_000431.4(MVK):c.19C>T (p.Leu7=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 97577	NM_000431.4(MVK):c.22G>C (p.Val8Leu)	MVK (V8L)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 2952055	NM_000431.4(MVK):c.24G>A (p.Val8=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2078526	NM_000431.4(MVK):c.27T>C (p.Ser9=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 872779	NM_000431.4(MVK):c.29C>T (p.Ala10Val)	MVK (A10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 234377	NM_000431.4(MVK):c.32C>T (p.Pro11Leu)	MVK (P11L)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +3 more	GUncertain significance
Select item 882748	NM_000431.4(MVK):c.33G>A (p.Pro11=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +3 more	GConflicting classifications of pathogenicity
Select item 935668	NM_000431.4(MVK):c.36G>T (p.Gly12=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 882749	NM_000431.4(MVK):c.37A>C (p.Lys13Gln)	MVK (K13Q)	Single nucleotide variant (missense variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 97585	NM_000431.4(MVK):c.37A>T (p.Lys13Ter)	MVK (K13*)	Single nucleotide variant (nonsense)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 2944983	NM_000431.4(MVK):c.42C>T (p.Val14=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2943228	NM_000431.4(MVK):c.46_49del (p.Leu16fs)	MVK (L16fs)	Deletion (frameshift variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2643278	NM_000431.4(MVK):c.52G>A (p.Gly18Arg)	MVK (G18R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 649235	NM_000431.4(MVK):c.58C>A (p.His20Asn)	MVK (H20N)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +2 more	GPathogenic
Select item 11931	NM_000431.4(MVK):c.59A>C (p.His20Pro)	MVK (H20P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1094379	NM_000431.4(MVK):c.60T>C (p.His20=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 97602	NM_000431.4(MVK):c.60T>A (p.His20Gln)	MVK (H20Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1683508	NM_000431.4(MVK):c.62C>T (p.Ala21Val)	MVK (A21V)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever	GLikely pathogenic
Select item 2929590	NM_000431.4(MVK):c.63C>T (p.Ala21=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 1468594	NM_000431.4(MVK):c.64G>C (p.Val22Leu)	MVK (V22L)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 1349870	NM_000431.4(MVK):c.67G>A (p.Val23Ile)	MVK (V23I)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2929061	NM_000431.4(MVK):c.71A>C (p.His24Pro)	MVK (H24P)	Single nucleotide variant (missense variant +2 more)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 2585633	NM_000431.4(MVK):c.71A>G (p.His24Arg)	MVK (H24R)	Single nucleotide variant (missense variant +2 more)	Mevalonic aciduria	GUncertain significance
Select item 88836	NM_000431.4(MVK):c.72dup (p.Gly25fs)	MVK (G25fs)	Duplication (frameshift variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 97617	NM_000431.4(MVK):c.75C>T (p.Gly25=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 1188196	NM_000431.4(MVK):c.78G>A (p.Lys26=)	MVK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 960301	NM_000431.4(MVK):c.78+1G>A	MVK	Single nucleotide variant (splice donor variant +1 more)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely pathogenic
Select item 97623	NM_000431.4(MVK):c.78+2del	MVK	Deletion (splice donor variant +1 more)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 246309	NM_000431.4(MVK):c.78+7_78+10del	MVK	Deletion (intron variant)	not provided +4 more	GLikely benign
Select item 307091	NM_000431.4(MVK):c.78+8G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GConflicting classifications of pathogenicity
Select item 2930227	NM_000431.4(MVK):c.78+10C>T	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2921453	NM_000431.4(MVK):c.78+10C>A	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 2925578	NM_000431.4(MVK):c.78+11G>T	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 1619439	NM_000431.4(MVK):c.78+11G>A	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 1974461	NM_000431.4(MVK):c.78+18C>T	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2935254	NM_000431.4(MVK):c.78+19C>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2952625	NM_000431.4(MVK):c.78+20T>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2945573	NM_000431.4(MVK):c.78+20T>C	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 439924	NM_000431.4(MVK):c.78+61A>G	MVK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1224579	NM_000431.4(MVK):c.78+105A>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225628	NM_000431.4(MVK):c.78+141G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 97622	NM_000431.4(MVK):c.78+177G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212758	NM_000431.4(MVK):c.78+265A>G	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205653	NM_000431.4(MVK):c.79-176G>A	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439921	NM_000431.4(MVK):c.79-164T>G	MVK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 97624	NM_000431.4(MVK):c.79-62G>A	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 2931067	NM_000431.4(MVK):c.79-16G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2005883	NM_000431.4(MVK):c.79-11T>G	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 1969941	NM_000431.4(MVK):c.79-4A>G	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 943304	NM_000431.4(MVK):c.79-2A>G	MVK	Single nucleotide variant (splice acceptor variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely pathogenic
Select item 943307	NM_000431.4(MVK):c.80T>G (p.Val27Gly)	MVK (V27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2931278	NM_000431.4(MVK):c.84A>G (p.Ala28=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 1720361	NM_000431.4(MVK):c.86T>C (p.Leu29Pro)	MVK (L29P)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 97635	NM_000431.4(MVK):c.86del (p.Leu29fs)	MVK (L29fs)	Deletion (frameshift variant)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 1398182	NM_000431.4(MVK):c.89C>T (p.Ala30Val)	MVK (A30V)	Single nucleotide variant (missense variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 2954359	NM_000431.4(MVK):c.96C>T (p.Ser32=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 97563	NM_000431.4(MVK):c.104T>C (p.Leu35Ser)	MVK (L35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263522	NM_000431.4(MVK):c.105G>C (p.Leu35Phe)	MVK (L35F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 97573	NM_000431.4(MVK):c.116T>C (p.Leu39Pro)	MVK (L39P)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever	Gnot provided
Select item 1694349	NM_000431.4(MVK):c.118C>T (p.Arg40Trp)	MVK (R40W)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GUncertain significance
Select item 1516327	NM_000431.4(MVK):c.119G>T (p.Arg40Leu)	MVK (R40L)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 579239	NM_000431.4(MVK):c.119G>A (p.Arg40Gln)	MVK (R40Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 39728	NM_000431.4(MVK):c.122T>C (p.Leu41Pro)	MVK (L41P)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type	GPathogenic
Select item 2948954	NM_000431.4(MVK):c.125A>C (p.Gln42Pro)	MVK (Q42P)	Single nucleotide variant (missense variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2934231	NM_000431.4(MVK):c.126A>G (p.Gln42=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +3 more	GConflicting classifications of pathogenicity
Select item 97574	NM_000431.4(MVK):c.129_130del (p.His44fs)	MVK (H44fs)	Deletion (frameshift variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GPathogenic
Select item 2939640	NM_000431.4(MVK):c.129C>A (p.Pro43=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 1597802	NM_000431.4(MVK):c.132C>T (p.His44=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2935199	NM_000431.4(MVK):c.135C>T (p.Ser45=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 1093455	NM_000431.4(MVK):c.144A>G (p.Lys48=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 2922682	NM_000431.4(MVK):c.147G>A (p.Val49=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 618224	NM_000431.4(MVK):c.151C>T (p.Leu51Phe)	MVK (L51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2949745	NM_000431.4(MVK):c.153C>T (p.Leu51=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 872780	NM_000431.4(MVK):c.155G>T (p.Ser52Ile)	MVK (S52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635160	NM_000431.4(MVK):c.162C>T (p.Pro54=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 664958	NM_000431.4(MVK):c.166A>G (p.Ile56Val)	MVK (I56V)	Single nucleotide variant (missense variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 2944332	NM_000431.4(MVK):c.168T>C (p.Ile56=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2172951	NM_000431.4(MVK):c.172A>G (p.Ile58Val)	MVK (I58V)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 883541	NM_000431.4(MVK):c.178C>T (p.Arg60Trp)	MVK (R60W)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +3 more	GUncertain significance

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