ClinVar for MedGen (Select 120654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336160	NM_000255.4(MMUT):c.2053_2055dup (p.Leu685_Ile686insLeu)	MMUT	Duplication (inframe_insertion)	Methylmalonic acidemia	GPathogenic
Select item 3242584	NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)	MMAA (D258N)	Single nucleotide variant (missense variant)	Methylmalonic acidemia	GLikely pathogenic
Select item 3068856	NC_000006.11:g.(49425772_49426794)_(49430967_?)del	MMUT	Deletion	Methylmalonic acidemia	GPathogenic
Select item 2682442	NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)	MMUT (L358P)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 2573384	NM_000255.4(MMUT):c.2033A>G (p.His678Arg)	MMUT (H678R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia	GLikely pathogenic
Select item 1723338	NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)	MMUT (E360*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia	GLikely pathogenic
Select item 1705196	NM_000255.4(MMUT):c.544dup (p.Met182fs)	MMUT (M182fs)	Duplication (frameshift variant)	Methylmalonic acidemia	GPathogenic
Select item 1696114	NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)	MMUT (S288P)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 1677118	NM_000255.4(MMUT):c.2098_2099del (p.Met700fs)	MMUT (M700fs)	Deletion (frameshift variant)	Methylmalonic acidemia	GPathogenic
Select item 1499715	NM_000255.4(MMUT):c.785G>A (p.Ser262Asn)	MMUT (S262N)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 1497381	NM_000255.4(MMUT):c.1847G>A (p.Arg616His)	MMUT (R616H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1173993	NM_052845.4(MMAB):c.367del (p.Asp123fs)	MMAB (D123fs)	Deletion (frameshift variant +1 more)	Methylmalonic acidemia +1 more	GPathogenic
Select item 1075640	NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)	MMUT (E432A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1073197	NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	MMAA (R145Q)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 1069591	NM_000255.4(MMUT):c.1658del (p.Val553fs)	MMUT (V553fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 993879	NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)	MMUT (G426R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 992109	NM_001243279.3(ACSF3):c.*10C>T	ACSF3	Single nucleotide variant (3 prime UTR variant +1 more)	ACSF3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 992108	NM_001243279.3(ACSF3):c.*4G>A	ACSF3	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 992107	NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)	ACSF3 (A303V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 992106	NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)	ACSF3 (R293P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 992105	NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)	ACSF3 (S283L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 992104	NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 992103	NM_001243279.3(ACSF3):c.1613+11_1613+12insGGGG	ACSF3	Insertion (intron variant)	Methylmalonic acidemia	GUncertain significance
Select item 992102	NM_001243279.3(ACSF3):c.1613+8T>A	ACSF3	Single nucleotide variant (intron variant)	Methylmalonic acidemia	GUncertain significance
Select item 992101	NM_001243279.3(ACSF3):c.1613+7C>G	ACSF3	Single nucleotide variant (intron variant)	Methylmalonic acidemia	GUncertain significance
Select item 992100	NM_001243279.3(ACSF3):c.1613+7_1613+8del	ACSF3	Deletion (intron variant)	Methylmalonic acidemia	GUncertain significance
Select item 992099	NM_001243279.3(ACSF3):c.1613+3A>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 992098	NM_001243279.3(ACSF3):c.1571A>G (p.Glu524Gly)	ACSF3 (E259G +1 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 992097	NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)	ACSF3 (V194M +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 992096	NM_001243279.3(ACSF3):c.1366+8C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 992095	NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 992094	NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)	ACSF3 (S180N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 992093	NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 991089	NM_001243279.3(ACSF3):c.1238A>T (p.Lys413Met)	ACSF3 (K148M +1 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 991088	NM_001243279.3(ACSF3):c.1127-9C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 991087	NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)	ACSF3, LOC125177393 (V107M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 991086	NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)	ACSF3, LOC125177393 (G101R +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 991085	NM_001243279.3(ACSF3):c.1056G>C (p.Leu352=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 991084	NM_001243279.3(ACSF3):c.1043G>A (p.Gly348Asp)	ACSF3, LOC125177393 (G348D +1 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 991083	NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)	ACSF3, LOC125177393 (P338L +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 991082	NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)	ACSF3 (R318H +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 991081	NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)	ACSF3 (D315N +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 991080	NM_001243279.3(ACSF3):c.877G>A (p.Val293Met)	ACSF3 (V28M +1 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 991079	NM_001243279.3(ACSF3):c.857G>A (p.Arg286Gln)	ACSF3 (R21Q +1 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 991078	NM_001243279.3(ACSF3):c.825T>C (p.Val275=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 991077	NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)	ACSF3 (V241M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 991076	NM_001243279.3(ACSF3):c.701A>T (p.Lys234Ile)	ACSF3 (K234I)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 991075	NM_001243279.3(ACSF3):c.618G>A (p.Thr206=)	ACSF3	Single nucleotide variant (intron variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 991074	NM_001243279.3(ACSF3):c.561C>T (p.Val187=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 991073	NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)	ACSF3 (P186L)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 991072	NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)	ACSF3 (T176N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 991071	NM_001243279.3(ACSF3):c.522C>G (p.Ile174Met)	ACSF3 (I174M)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 991070	NM_001243279.3(ACSF3):c.507G>A (p.Pro169=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 991069	NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)	ACSF3 (P166L)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 991068	NM_001243279.3(ACSF3):c.436G>A (p.Val146Ile)	ACSF3 (V146I)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 990426	NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)	ACSF3 (G119D)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 990425	NM_001243279.3(ACSF3):c.283G>C (p.Glu95Gln)	ACSF3 (E95Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 990424	NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)	ACSF3 (R94W)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 990423	NM_001243279.3(ACSF3):c.278T>A (p.Leu93His)	ACSF3 (L93H)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 990422	NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)	ACSF3 (R65H)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 990421	NM_001243279.3(ACSF3):c.190G>A (p.Gly64Ser)	ACSF3 (G64S)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 990420	NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)	ACSF3 (V60G)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 990419	NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)	ACSF3 (R49C)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 990418	NM_001243279.3(ACSF3):c.135G>A (p.Pro45=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990417	NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu)	ACSF3 (P45L)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 990416	NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)	ACSF3 (A44T)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 990415	NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu)	ACSF3 (D41E)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 990414	NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)	ACSF3 (R39H)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +2 more	GUncertain significance
Select item 990413	NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)	ACSF3 (A15T)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 990412	NM_001243279.3(ACSF3):c.18G>A (p.Val6=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 990411	NM_001243279.3(ACSF3):c.-8T>A	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 990410	NM_001243279.3(ACSF3):c.-10T>G	ACSF3	Single nucleotide variant (5 prime UTR variant +2 more)	Methylmalonic acidemia	GUncertain significance
Select item 978683	NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)	MMUT (A141E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 928834	NM_000255.4(MMUT):c.421del (p.Ala141fs)	MMUT (A141fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 851451	NM_000255.4(MMUT):c.1957-899A>G	MMUT	Single nucleotide variant (intron variant)	Methylmalonic acidemia +1 more	GLikely pathogenic
Select item 839825	NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)	ACSF3 (Q142*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 787086	NM_001243279.3(ACSF3):c.390C>T (p.Pro130=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 764529	NM_001243279.3(ACSF3):c.312C>T (p.Asn104=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 758065	NM_001243279.3(ACSF3):c.855G>A (p.Pro285=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 747808	NM_172250.3(MMAA):c.787C>T (p.Leu263=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 737532	NM_001243279.3(ACSF3):c.42C>T (p.Cys14=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 682113	NM_001243279.3(ACSF3):c.357C>T (p.Gly119=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GLikely benign
Select item 658792	NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)	ACSF3 (D105N)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 657887	NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	MMUT (G94V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 633322	NM_000255.4(MMUT):c.753+1G>A	MMUT	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 578141	NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)	MMUT (V399fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 574601	NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	MMUT (A676T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 556968	NM_000255.4(MMUT):c.1677-1G>C	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 556865	NM_000255.4(MMUT):c.914T>C (p.Leu305Ser)	MMUT (L305S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556782	NM_000255.4(MMUT):c.1946del (p.Pro649fs)	MMUT (P649fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556124	NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	MMUT (R511*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 554873	NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	MMUT (R474*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 554675	NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	MMUT (R581*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 554641	NM_000255.4(MMUT):c.671_678dup (p.Val227fs)	MMUT (V227fs)	Duplication (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 554278	NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	MMUT (Y429*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 553958	NM_000255.4(MMUT):c.1022dup (p.Asn341fs)	MMUT (N341fs)	Duplication (frameshift variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 553762	NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	MMUT (G284*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
Select item 552718	NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	MMUT (E224*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic/Likely pathogenic
Select item 552212	NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	MMAB (R186Q)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 552079	NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	MMUT (D244fs)	Insertion (frameshift variant)	Methylmalonic acidemia +2 more	GPathogenic

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