4598[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 147614	GRCh38/hg38 12q24.11(chr12:109398462-109637311)x3	KCTD10, LOC130008716 +4 more	Copy number gain	See cases	GBenign
Select item 96243	NM_052845.4(MMAB):c.288T>C (p.Ile96=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Hyperimmunoglobulin D with periodic fever +5 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)	not specified +4 more	GBenign/Likely benign
Select item 217750	NM_000431.2(MVK):c.-1880_527+533del	MMAB, MVK	Deletion	Porokeratosis 3, disseminated superficial actinic type	GPathogenic
Select item 2790490	NM_052845.4(MMAB):c.134+20G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2881986	NM_052845.4(MMAB):c.134+16del	MMAB, MVK	Deletion (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2917603	NM_052845.4(MMAB):c.134+14G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2010847	NM_052845.4(MMAB):c.134+10T>G	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2802085	NM_052845.4(MMAB):c.134+7G>A	MMAB, MVK	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2028517	NM_052845.4(MMAB):c.134+2T>A	MMAB, MVK	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2715184	NM_052845.4(MMAB):c.134+1G>T	MMAB, MVK	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1656843	NM_052845.4(MMAB):c.132C>T (p.Asp44=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1636210	NM_052845.4(MMAB):c.126C>T (p.Asp42=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2746291	NM_052845.4(MMAB):c.116del (p.Gly39fs)	MVK, MMAB (G39fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 989540	NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)	MMAB, MVK (G39D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2676614	NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)	MMAB, MVK (Q38*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2090269	NM_052845.4(MMAB):c.111T>G (p.Pro37=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2005568	NM_052845.4(MMAB):c.108C>A (p.Gly36=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1567596	NM_052845.4(MMAB):c.108C>T (p.Gly36=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 557303	NM_052845.4(MMAB):c.107del (p.Gly36fs)	MMAB, MVK (G36fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1144911	NM_052845.4(MMAB):c.105C>T (p.Arg35=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1979326	NM_052845.4(MMAB):c.102C>T (p.Ser34=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 763309	NM_052845.4(MMAB):c.99G>A (p.Gln33=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 1125192	NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)	MMAB, MVK (R31C)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 2585574	NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)	MMAB, MVK (P30S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 1173989	NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)	MMAB, MVK (Y29*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1108421	NM_052845.4(MMAB):c.84G>A (p.Leu28=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 284358	NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)	MMAB, MVK (L27F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2062416	NM_052845.4(MMAB):c.78G>A (p.Arg26=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 883486	NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)	MMAB, MVK (G23D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2144216	NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)	MMAB, MVK (F22L)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 1532233	NM_052845.4(MMAB):c.66C>T (p.Phe22=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2676618	NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)	MMAB, MVK (C21*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1434079	NM_052845.4(MMAB):c.61dup (p.Cys21fs)	MMAB, MVK (C21fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1520198	NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)	MVK, MMAB (C21S)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 1624891	NM_052845.4(MMAB):c.60G>A (p.Gly20=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1115896	NM_052845.4(MMAB):c.60G>T (p.Gly20=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2900700	NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)	MMAB, MVK (R19*)	Indel (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1582021	NM_052845.4(MMAB):c.57C>G (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 727710	NM_052845.4(MMAB):c.57C>T (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 219003	NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)	MVK, MMAB (R19Q)	Indel (missense variant +1 more)	Methylmalonic aciduria, cblB type +1 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 1607092	NM_052845.4(MMAB):c.54G>A (p.Leu18=)	MVK, MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 208198	NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])	MMAB, MVK	Microsatellite (inframe_deletion +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 1592164	NM_052845.4(MMAB):c.52C>A (p.Leu18Met)	MMAB, MVK (L18M)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1118055	NM_052845.4(MMAB):c.52C>T (p.Leu18=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 859242	NM_052845.4(MMAB):c.44G>A (p.Arg15His)	MMAB, MVK (R15H)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 618212	NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)	MMAB, MVK (R15C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2099357	NM_052845.4(MMAB):c.42C>T (p.Ser14=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1015658	NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)	MMAB, MVK (S14N)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2876018	NM_052845.4(MMAB):c.39G>T (p.Gly13=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1209579	NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)	MMAB, MVK (L12P)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 2823761	NM_052845.4(MMAB):c.33C>T (p.Gly11=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2676616	NM_052845.4(MMAB):c.32del (p.Gly11fs)	MMAB, MVK (G11fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1077513	NM_052845.4(MMAB):c.30T>C (p.Leu10=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1977334	NM_052845.4(MMAB):c.27T>G (p.Arg9=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 747752	NM_052845.4(MMAB):c.27T>C (p.Arg9=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2772887	NM_052845.4(MMAB):c.24C>T (p.Ser8=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 1173988	NM_052845.4(MMAB):c.23del (p.Ser8fs)	MMAB, MVK (S8fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1966451	NM_052845.4(MMAB):c.18G>A (p.Leu6=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 798072	NM_052845.4(MMAB):c.16C>T (p.Leu6=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 989541	NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)	MMAB, MVK (G5D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GUncertain significance
Select item 550793	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB, MVK (C4*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 711515	NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)	MVK, MMAB (C4R)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 883487	NM_052845.4(MMAB):c.7G>A (p.Val3Met)	MMAB, MVK (V3M)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 1999651	NM_052845.4(MMAB):c.6T>A (p.Ala2=)	MVK, MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GLikely benign
Select item 2754610	NM_052845.4(MMAB):c.2T>A (p.Met1Lys)	MMAB, MVK (M1K)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1066680	NM_052845.4(MMAB):c.2T>G (p.Met1Arg)	MVK, MMAB (M1R)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 225187	NM_052845.4(MMAB):c.2T>C (p.Met1Thr)	MMAB, MVK (M1T)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 861176	NM_052845.4(MMAB):c.1A>C (p.Met1Leu)	MMAB, MVK (M1L)	Single nucleotide variant (missense variant +2 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 307082	NM_052845.4(MMAB):c.-4G>C	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 513728	NM_052845.4(MMAB):c.-7C>G	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 307083	NM_052845.4(MMAB):c.-9G>T	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 881123	NM_052845.4(MMAB):c.-11C>G	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	Mevalonic aciduria +2 more	GUncertain significance
Select item 516274	NM_052845.3(MMAB):c.-30G>T	MVK, MMAB	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 307084	NM_052845.3(MMAB):c.-49G>A	MVK, MMAB	Single nucleotide variant (genic upstream transcript variant)	Methylmalonic acidemia	GUncertain significance
Select item 1326625	NC_000012.12:g.109573541T>C	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 307085	NM_052845.3(MMAB):c.-69G>A	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Methylmalonic acidemia +1 more	GUncertain significance
Select item 1219415	NC_000012.12:g.109573563A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
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 534562	NC_000012.12:g.109573660G>A	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not provided +2 more	GBenign
Select item 1211163	NC_000012.12:g.109573681T>A	MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 307086	NM_000431.3(MVK):c.-178A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Hyperimmunoglobulin D with periodic fever +4 more	GConflicting classifications of pathogenicity
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

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