C1959626[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96243	NM_052845.4(MMAB):c.288T>C (p.Ile96=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 203817	NM_052845.4(MMAB):c.185C>T (p.Thr62Met)	MMAB, MVK (T62M)	Single nucleotide variant (missense variant +1 more)	MMAB-related condition +5 more	GBenign/Likely benign
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia +5 more	GBenign
Select item 262246	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	MMAB, MVK (R19H)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia +5 more	GBenign
Select item 2925505	NM_000431.4(MVK):c.1A>C (p.Met1Leu)	MVK (M1L)	Single nucleotide variant (missense variant +3 more)	Mevalonic aciduria +2 more	GPathogenic
Select item 2926235	NM_000431.4(MVK):c.9A>G (p.Ser3=)	MVK	Single nucleotide variant (intron variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 234376	NM_000431.4(MVK):c.14T>C (p.Val5Ala)	MVK (V5A)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2954120	NM_000431.4(MVK):c.15C>T (p.Val5=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 1175836	NM_000431.4(MVK):c.18A>G (p.Leu6=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +3 more	GLikely benign
Select item 1151893	NM_000431.4(MVK):c.19C>T (p.Leu7=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2952055	NM_000431.4(MVK):c.24G>A (p.Val8=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 2078526	NM_000431.4(MVK):c.27T>C (p.Ser9=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 234377	NM_000431.4(MVK):c.32C>T (p.Pro11Leu)	MVK (P11L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 882748	NM_000431.4(MVK):c.33G>A (p.Pro11=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +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)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 2944983	NM_000431.4(MVK):c.42C>T (p.Val14=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 2943228	NM_000431.4(MVK):c.46_49del (p.Leu16fs)	MVK (L16fs)	Deletion (frameshift variant +2 more)	Mevalonic aciduria +2 more	GPathogenic
Select item 649235	NM_000431.4(MVK):c.58C>A (p.His20Asn)	MVK (H20N)	Single nucleotide variant (missense variant)	Mevalonic aciduria +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)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 97602	NM_000431.4(MVK):c.60T>A (p.His20Gln)	MVK (H20Q)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +3 more	GPathogenic/Likely pathogenic
Select item 2929590	NM_000431.4(MVK):c.63C>T (p.Ala21=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +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)	Hyperimmunoglobulin D with periodic fever +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)	Mevalonic aciduria +2 more	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 960301	NM_000431.4(MVK):c.78+1G>A	MVK	Single nucleotide variant (splice donor variant +1 more)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely pathogenic
Select item 246309	NM_000431.4(MVK):c.78+7_78+10del	MVK	Deletion (intron variant)	MVK-related condition +5 more	GLikely benign
Select item 307091	NM_000431.4(MVK):c.78+8G>A	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GConflicting classifications of pathogenicity
Select item 2930227	NM_000431.4(MVK):c.78+10C>T	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2921453	NM_000431.4(MVK):c.78+10C>A	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2925578	NM_000431.4(MVK):c.78+11G>T	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 1619439	NM_000431.4(MVK):c.78+11G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 1974461	NM_000431.4(MVK):c.78+18C>T	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 2935254	NM_000431.4(MVK):c.78+19C>G	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2952625	NM_000431.4(MVK):c.78+20T>G	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2945573	NM_000431.4(MVK):c.78+20T>C	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2931067	NM_000431.4(MVK):c.79-16G>A	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2005883	NM_000431.4(MVK):c.79-11T>G	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 1969941	NM_000431.4(MVK):c.79-4A>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 943304	NM_000431.4(MVK):c.79-2A>G	MVK	Single nucleotide variant (splice acceptor variant)	Porokeratosis 3, disseminated superficial actinic type +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)	Mevalonic aciduria +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 1398182	NM_000431.4(MVK):c.89C>T (p.Ala30Val)	MVK (A30V)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 2954359	NM_000431.4(MVK):c.96C>T (p.Ser32=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 1694349	NM_000431.4(MVK):c.118C>T (p.Arg40Trp)	MVK (R40W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 1516327	NM_000431.4(MVK):c.119G>T (p.Arg40Leu)	MVK (R40L)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 579239	NM_000431.4(MVK):c.119G>A (p.Arg40Gln)	MVK (R40Q)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GUncertain significance
Select item 2948954	NM_000431.4(MVK):c.125A>C (p.Gln42Pro)	MVK (Q42P)	Single nucleotide variant (missense variant +2 more)	Mevalonic aciduria +2 more	GUncertain significance
Select item 2934231	NM_000431.4(MVK):c.126A>G (p.Gln42=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 97574	NM_000431.4(MVK):c.129_130del (p.His44fs)	MVK (H44fs)	Deletion (frameshift variant)	Hyperimmunoglobulin D with periodic fever +2 more	GPathogenic
Select item 2939640	NM_000431.4(MVK):c.129C>A (p.Pro43=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 1597802	NM_000431.4(MVK):c.132C>T (p.His44=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 2935199	NM_000431.4(MVK):c.135C>T (p.Ser45=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 1093455	NM_000431.4(MVK):c.144A>G (p.Lys48=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2922682	NM_000431.4(MVK):c.147G>A (p.Val49=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 2949745	NM_000431.4(MVK):c.153C>T (p.Leu51=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 129638	NM_000431.4(MVK):c.155G>A (p.Ser52Asn)	MMAB, MVK (S52N)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +6 more	GBenign/Likely benign
Select item 1635160	NM_000431.4(MVK):c.162C>T (p.Pro54=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 664958	NM_000431.4(MVK):c.166A>G (p.Ile56Val)	MVK (I56V)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 2944332	NM_000431.4(MVK):c.168T>C (p.Ile56=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +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)	Porokeratosis 3, disseminated superficial actinic type +3 more	GUncertain significance
Select item 2950610	NM_000431.4(MVK):c.179G>A (p.Arg60Gln)	MVK (R60Q)	Single nucleotide variant (missense variant +2 more)	Mevalonic aciduria +2 more	GUncertain significance
Select item 97576	NM_000431.4(MVK):c.185G>A (p.Trp62Ter)	MVK (W62*)	Single nucleotide variant (nonsense)	Hyperimmunoglobulin D with periodic fever +2 more	GPathogenic
Select item 861832	NM_000431.4(MVK):c.187G>A (p.Asp63Asn)	MVK (D63N)	Single nucleotide variant (missense variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 1469067	NM_000431.4(MVK):c.188A>T (p.Asp63Val)	MVK (D63V)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 1976951	NM_000431.4(MVK):c.192G>A (p.Val64=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 2253029	NM_000431.4(MVK):c.194C>G (p.Ala65Gly)	MVK (A65G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2069710	NM_000431.4(MVK):c.194C>T (p.Ala65Val)	MVK (A65V)	Single nucleotide variant (missense variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 1430226	NM_000431.4(MVK):c.197G>A (p.Arg66Lys)	MVK (R66K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1996976	NM_000431.4(MVK):c.203A>G (p.Gln68Arg)	MVK (Q68R)	Single nucleotide variant (missense variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 2938110	NM_000431.4(MVK):c.207_208del (p.Leu70fs)	MVK (L70fs)	Deletion (frameshift variant +2 more)	Mevalonic aciduria +2 more	GPathogenic
Select item 2942217	NM_000431.4(MVK):c.207A>G (p.Ser69=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 1694351	NM_000431.4(MVK):c.210G>T (p.Leu70=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1284675	NM_000431.4(MVK):c.216A>G (p.Thr72=)	MVK	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 234378	NM_000431.4(MVK):c.226+4A>G	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +5 more	GConflicting classifications of pathogenicity
Select item 2932681	NM_000431.4(MVK):c.226+7G>T	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 1570860	NM_000431.4(MVK):c.226+7G>A	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2943415	NM_000431.4(MVK):c.226+9A>G	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2933177	NM_000431.4(MVK):c.226+17G>C	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2939218	NM_000431.4(MVK):c.227-20C>A	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 2106848	NM_000431.4(MVK):c.227-17G>A	MVK	Single nucleotide variant (intron variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GLikely benign
Select item 2954557	NM_000431.4(MVK):c.227-15T>C	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 642096	NM_000431.4(MVK):c.227A>G (p.Glu76Gly)	MVK (E76G)	Single nucleotide variant (missense variant)	Mevalonic aciduria +2 more	GUncertain significance
Select item 2941070	NM_000431.4(MVK):c.230A>G (p.Gln77Arg)	MVK (Q77R)	Single nucleotide variant (missense variant +2 more)	Mevalonic aciduria +2 more	GUncertain significance
Select item 97578	NM_000431.4(MVK):c.238G>A (p.Val80Ile)	MVK (V80I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1061884	NM_000431.4(MVK):c.244A>G (p.Thr82Ala)	MVK (T82A)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 2921783	NM_000431.4(MVK):c.252C>A (p.Thr84=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 1023895	NM_000431.4(MVK):c.254C>T (p.Ser85Leu)	MVK (S85L)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +2 more	GUncertain significance
Select item 881172	NM_000431.4(MVK):c.258G>A (p.Glu86=)	MVK	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2946946	NM_000431.4(MVK):c.264G>C (p.Val88=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 97579	NM_000431.4(MVK):c.277_283del (p.Glu93fs)	MVK (E93fs)	Deletion (frameshift variant)	MVK-Related Disorders +4 more	GConflicting classifications of pathogenicity
Select item 1567368	NM_000431.4(MVK):c.279G>A (p.Glu93=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +2 more	GLikely benign
Select item 1361545	NM_000431.4(MVK):c.288C>T (p.Gly96=)	MVK	Single nucleotide variant (synonymous variant)	Porokeratosis 3, disseminated superficial actinic type +2 more	GUncertain significance
Select item 1951471	NM_000431.4(MVK):c.289T>C (p.Leu97=)	MVK	Single nucleotide variant (synonymous variant +2 more)	Mevalonic aciduria +2 more	GLikely benign
Select item 799925	NM_000431.4(MVK):c.294T>C (p.Pro98=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +2 more	GLikely benign
Select item 736383	NM_000431.4(MVK):c.297C>T (p.Asp99=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +3 more	GLikely benign

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