MMADHC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 331370	NM_015702.3(MMADHC):c.*267T>C	MMADHC	Single nucleotide variant (3 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 331371	NM_015702.3(MMADHC):c.*241A>G	MMADHC	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GUncertain significance
Select item 331372	NM_015702.3(MMADHC):c.*164A>G	MMADHC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 331373	NM_015702.3(MMADHC):c.*126A>G	MMADHC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 331374	NM_015702.3(MMADHC):c.*89T>C	MMADHC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 2918901	NM_015702.3(MMADHC):c.891G>A (p.Ter297=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1672195	NM_015702.3(MMADHC):c.885A>C (p.Gly295=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1137703	NM_015702.3(MMADHC):c.885A>G (p.Gly295=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2013752	NM_015702.3(MMADHC):c.877T>C (p.Leu293=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1652810	NM_015702.3(MMADHC):c.876A>G (p.Lys292=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 991190	NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)	MMADHC (M290R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 2772654	NM_015702.3(MMADHC):c.864T>C (p.His288=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1716631	NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)	MMADHC (D286A)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 763723	NM_015702.3(MMADHC):c.855A>T (p.Pro285=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 991191	NM_015702.3(MMADHC):c.846T>C (p.Asn282=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GBenign
Select item 3216799	NM_015702.3(MMADHC):c.845A>G (p.Asn282Ser)	MMADHC (N282S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1528058	NM_015702.3(MMADHC):c.840C>T (p.Phe280=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2194387	NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)	MMADHC (I279V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 765486	NM_015702.3(MMADHC):c.828A>G (p.Val276=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2840765	NM_015702.3(MMADHC):c.825T>C (p.Val275=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1118278	NM_015702.3(MMADHC):c.822A>G (p.Val274=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 511595	NM_015702.3(MMADHC):c.819T>C (p.His273=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GLikely benign
Select item 1440250	NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)	MMADHC (W270R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 331375	NM_015702.3(MMADHC):c.800A>G (p.His267Arg)	MMADHC (H267R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GUncertain significance
Select item 1630900	NM_015702.3(MMADHC):c.795T>C (p.Ile265=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2112290	NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)	MMADHC (K263*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 761	NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)	MMADHC (L259P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 1926094	NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)	MMADHC (V256L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 1548205	NM_015702.3(MMADHC):c.765T>C (p.Ser255=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1511476	NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)	MMADHC (S255fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 957054	NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)	MMADHC (S255C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 331376	NM_015702.3(MMADHC):c.759A>T (p.Gly253=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GConflicting classifications of pathogenicity
Select item 1696341	NM_015702.3(MMADHC):c.757G>A (p.Gly253Arg)	MMADHC (G253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2676636	NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)	MMADHC (L252*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 767	NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)	MMADHC (R250*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 763	NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	MMADHC (Y249C)	Single nucleotide variant (missense variant)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
Select item 808820	NM_015702.3(MMADHC):c.743G>A (p.Arg248His)	MMADHC (R248H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618213	NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)	MMADHC (R248C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GUncertain significance
Select item 1597077	NM_015702.3(MMADHC):c.741A>G (p.Glu247=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2676639	NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)	MMADHC (E247*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 839892	NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)	MMADHC (D246G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GConflicting classifications of pathogenicity
Select item 3295237	NM_015702.3(MMADHC):c.736G>A (p.Asp246Asn)	MMADHC (D246N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 703884	NM_015702.3(MMADHC):c.735T>G (p.Thr245=)	MMADHC	Single nucleotide variant (synonymous variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 2676641	NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)	MMADHC	Deletion (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 1935302	NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)	MMADHC (L242V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 2117692	NM_015702.3(MMADHC):c.723T>G (p.Thr241=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1673458	NM_015702.3(MMADHC):c.714A>C (p.Thr238=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2886919	NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1082485	NM_015702.3(MMADHC):c.708A>G (p.Pro236=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 708861	NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)	MMADHC (P236L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 982056	NM_015702.3(MMADHC):c.702dup (p.Gly235fs)	MMADHC (G235fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GConflicting classifications of pathogenicity
Select item 892599	NM_015702.3(MMADHC):c.699T>C (p.Phe233=)	MMADHC	Single nucleotide variant (synonymous variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 892600	NM_015702.3(MMADHC):c.697-3C>T	MMADHC	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GUncertain significance
Select item 3003567	NM_015702.3(MMADHC):c.697-4T>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2892578	NM_015702.3(MMADHC):c.697-5C>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2738667	NM_015702.3(MMADHC):c.697-21_697-7dup	MMADHC	Duplication (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2882394	NM_015702.3(MMADHC):c.697-10A>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2751793	NM_015702.3(MMADHC):c.697-16G>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2890364	NM_015702.3(MMADHC):c.697-17C>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2902904	NM_015702.3(MMADHC):c.697-18del	MMADHC	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1293889	NM_015702.3(MMADHC):c.696+83G>A	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2786245	NM_015702.3(MMADHC):c.696+17T>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2912006	NM_015702.3(MMADHC):c.696+16T>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 892601	NM_015702.3(MMADHC):c.696+13C>A	MMADHC	Single nucleotide variant (intron variant)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 769	NM_015702.3(MMADHC):c.696+3_696+6del	MMADHC	Deletion (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 1432468	NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)	MMADHC (L231*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 3016643	NM_015702.3(MMADHC):c.684A>T (p.Ser228=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1129021	NM_015702.3(MMADHC):c.684A>C (p.Ser228=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2507317	NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)	MMADHC (S228*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GPathogenic/Likely pathogenic
Select item 2420823	NM_015702.3(MMADHC):c.678C>T (p.Asp226=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1107189	NM_015702.3(MMADHC):c.672T>C (p.Phe224=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1147349	NM_015702.3(MMADHC):c.666T>C (p.Ala222=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2676640	NM_015702.3(MMADHC):c.664del (p.Ala222fs)	MMADHC (A222fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 1388511	NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)	MMADHC (W221*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic/Likely pathogenic
Select item 1617582	NM_015702.3(MMADHC):c.660T>C (p.Tyr220=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1958245	NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)	MMADHC (G219fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 960731	NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)	MMADHC (R216*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD +2 more	GPathogenic/Likely pathogenic
Select item 203837	NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	MMADHC (R216G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1459027	NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs)	MMADHC (Y213fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 2888258	NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2384530	NM_015702.3(MMADHC):c.638A>G (p.Tyr213Cys)	MMADHC (Y213C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2832478	NM_015702.3(MMADHC):c.634dup (p.Cys212fs)	MMADHC (C212fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 2031908	NM_015702.3(MMADHC):c.630A>G (p.Glu210=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 1157970	NM_015702.3(MMADHC):c.624T>C (p.Ala208=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2920541	NM_015702.3(MMADHC):c.618T>C (p.Asn206=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 218723	NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)	MMADHC (N206S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +3 more	GBenign/Likely benign
Select item 1106042	NM_015702.3(MMADHC):c.615C>T (p.Ile205=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 712887	NM_015702.3(MMADHC):c.612C>T (p.Phe204=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2676635	NM_015702.3(MMADHC):c.610-1G>A	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 751054	NM_015702.3(MMADHC):c.610-4G>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2967942	NM_015702.3(MMADHC):c.610-8del	MMADHC	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2779895	NM_015702.3(MMADHC):c.610-8C>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2891205	NM_015702.3(MMADHC):c.610-9C>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2106256	NM_015702.3(MMADHC):c.610-9C>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign

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