ClinVar for MedGen (Select 341253) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022673	NM_015702.3(MMADHC):c.155-16del	MMADHC	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GBenign
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 3013578	NM_015702.3(MMADHC):c.213G>A (p.Arg71=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 3013469	NM_015702.3(MMADHC):c.531T>G (p.Thr177=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 3013197	NM_015702.3(MMADHC):c.609+11C>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 3012022	NM_015702.3(MMADHC):c.549G>A (p.Lys183=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 3011483	NM_015702.3(MMADHC):c.342T>C (p.Phe114=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
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 2994878	NM_015702.3(MMADHC):c.555T>C (p.Asp185=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2989373	NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)	MMADHC (W189*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 2984281	NM_015702.3(MMADHC):c.478+19T>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2973506	NM_015702.3(MMADHC):c.9+19A>C	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2972703	NM_015702.3(MMADHC):c.9+17T>G	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2971071	NM_015702.3(MMADHC):c.609+14T>C	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 2967936	NM_015702.3(MMADHC):c.373-8C>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2960808	NM_015702.3(MMADHC):c.373-13T>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2960788	NM_015702.3(MMADHC):c.373-13T>C	MMADHC	Single nucleotide variant (intron 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 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 2916542	NM_015702.3(MMADHC):c.160C>A (p.Arg54=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2916483	NM_015702.3(MMADHC):c.155-17T>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2916248	NM_015702.3(MMADHC):c.154+20G>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2912300	NM_015702.3(MMADHC):c.372+8G>T	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 2910703	NM_015702.3(MMADHC):c.609+13A>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2907864	NM_015702.3(MMADHC):c.108A>G (p.Ser36=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2903744	NM_015702.3(MMADHC):c.307C>T (p.Leu103=)	MMADHC	Single nucleotide variant (synonymous 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 2894529	NM_015702.3(MMADHC):c.9+12A>T	LOC126806368, 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 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 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 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 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 2884870	NM_015702.3(MMADHC):c.479-18G>C	MMADHC	Single nucleotide variant (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 2869628	NM_015702.3(MMADHC):c.120T>C (p.Asp40=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2859034	NM_015702.3(MMADHC):c.155-6C>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2856832	NM_015702.3(MMADHC):c.10-11G>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2850606	NM_015702.3(MMADHC):c.27C>T (p.Ala9=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2850205	NM_015702.3(MMADHC):c.391dup (p.Glu131fs)	MMADHC (E131fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 2849488	NM_015702.3(MMADHC):c.10-1G>A	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2848900	NM_015702.3(MMADHC):c.10-2A>G	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
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 2837839	NM_015702.3(MMADHC):c.478+8A>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
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 2832043	NM_015702.3(MMADHC):c.373-8C>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2832009	NM_015702.3(MMADHC):c.372+17A>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2830788	NM_015702.3(MMADHC):c.479-15T>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2828649	NM_015702.3(MMADHC):c.155-12_155-10del	MMADHC	Microsatellite (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2820946	NM_015702.3(MMADHC):c.478+15A>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2811672	NM_015702.3(MMADHC):c.105A>G (p.Gly35=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2808259	NM_015702.3(MMADHC):c.609+8T>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2803840	NM_015702.3(MMADHC):c.478+10G>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2794358	NM_015702.3(MMADHC):c.373-5C>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2793959	NM_015702.3(MMADHC):c.588A>G (p.Glu196=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2790030	NM_015702.3(MMADHC):c.597G>C (p.Val199=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2786851	NM_015702.3(MMADHC):c.333A>G (p.Arg111=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
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 2785109	NM_015702.3(MMADHC):c.155-16T>G	MMADHC	Single nucleotide variant (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 2779693	NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)	MMADHC (W57*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 2778722	NM_015702.3(MMADHC):c.10-13G>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2773067	NM_015702.3(MMADHC):c.478+7C>A	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
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 2769881	NM_015702.3(MMADHC):c.57C>T (p.Cys19=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2766577	NM_015702.3(MMADHC):c.9+16C>T	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2765188	NM_015702.3(MMADHC):c.155-2A>G	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2760541	NM_015702.3(MMADHC):c.234A>T (p.Ile78=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2759139	NM_015702.3(MMADHC):c.373-4T>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2757661	NM_015702.3(MMADHC):c.249C>T (p.His83=)	MMADHC	Single nucleotide variant (synonymous 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 2750433	NM_015702.3(MMADHC):c.610-13A>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2749808	NM_015702.3(MMADHC):c.402T>A (p.Ile134=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2745012	NM_015702.3(MMADHC):c.479-13T>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2741971	NM_015702.3(MMADHC):c.478+12T>C	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 2734282	NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)	MMADHC (Q180*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 2733422	NM_015702.3(MMADHC):c.373-18T>C	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2730554	NM_015702.3(MMADHC):c.479-20A>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2701308	NM_015702.3(MMADHC):c.22dup (p.Arg8fs)	MMADHC (R8fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
Select item 2696203	NM_015702.3(MMADHC):c.309A>C (p.Leu103=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2694795	NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)	MMADHC	Duplication (nonsense +1 more)	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
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 2676640	NM_015702.3(MMADHC):c.664del (p.Ala222fs)	MMADHC (A222fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
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 2676638	NM_015702.3(MMADHC):c.563_566del (p.Val188fs)	MMADHC (V188fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676637	NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)	MMADHC	Deletion (nonsense)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
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 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 2676634	NM_015702.3(MMADHC):c.479-2A>G	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2676633	NM_015702.3(MMADHC):c.373-2A>G	MMADHC	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely pathogenic
Select item 2445824	NM_015702.3(MMADHC):c.9+1G>A	LOC126806368, MMADHC	Single nucleotide variant (splice donor variant)	Cobalamin C disease +1 more	GLikely pathogenic
Select item 2445207	NM_207346.3(TSEN54):c.953del (p.Pro318fs)	TSEN54 (P318fs)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblD +3 more	GPathogenic
Select item 2427860	NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)	MMADHC (E192del)	Microsatellite (inframe_deletion)	Methylmalonic aciduria and homocystinuria type cblD	GUncertain significance
Select item 2426213	NC_000002.11:g.(?_150443583)_(150443611_?)del	MMADHC	Deletion	Methylmalonic aciduria and homocystinuria type cblD	GPathogenic
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 2416688	NM_015702.3(MMADHC):c.471G>A (p.Leu157=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign
Select item 2415453	NM_015702.3(MMADHC):c.610-12C>T	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD	GLikely benign

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