ClinVar for MedGen (Select 344640) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366758	NM_002454.3(MTRR):c.1674dup (p.Arg559Ter)	MTRR (R559*)	Duplication (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 3246351	NC_000005.9:g.(?_7885880)_(7887275_?)del	MTRR	Deletion	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 3246350	NC_000005.9:g.(?_7892820)_(7893046_?)del	MTRR	Deletion	Methylcobalamin deficiency type cblE	GPathogenic
Select item 3246349	NC_000005.9:g.(?_7891465)_(7891547_?)del	MTRR	Deletion	Methylcobalamin deficiency type cblE	GPathogenic
Select item 3021553	NM_002454.3(MTRR):c.129+11T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3021367	NM_002454.3(MTRR):c.1016A>G (p.His339Arg)	MTRR (H339R)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 3021070	NM_002454.3(MTRR):c.1923C>T (p.Leu641=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3021028	NM_002454.3(MTRR):c.1558-17T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3020184	NM_002454.3(MTRR):c.483G>A (p.Glu161=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3018536	NM_002454.3(MTRR):c.1952+20A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3018021	NM_002454.3(MTRR):c.924G>A (p.Gln308=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3017334	NM_002454.3(MTRR):c.525G>A (p.Ser175=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3017289	NM_002454.3(MTRR):c.1878A>G (p.Gln626=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3016528	NM_002454.3(MTRR):c.591T>C (p.Asp197=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3015857	NM_002454.3(MTRR):c.1474del (p.Trp492fs)	MTRR (W492fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 3008942	NM_002454.3(MTRR):c.309C>T (p.Tyr103=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3008551	NM_002454.3(MTRR):c.1769+11A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3006294	NM_002454.3(MTRR):c.903+7T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3006187	NM_002454.3(MTRR):c.1370+2TAC[3]	MTRR	Microsatellite (splice donor variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 3003258	NM_002454.3(MTRR):c.283+15C>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2998631	NM_002454.3(MTRR):c.1952+11A>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2995080	NM_002454.3(MTRR):c.472A>C (p.Arg158=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2990884	NM_002454.3(MTRR):c.284-18T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2989800	NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)	MTRR (S156*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 2985499	NM_002454.3(MTRR):c.904-19C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2982165	NM_002454.3(MTRR):c.1558-12G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2979827	NM_002454.3(MTRR):c.2037A>C (p.Ala679=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2979271	NM_002454.3(MTRR):c.216T>C (p.Phe72=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2972096	NM_002454.3(MTRR):c.624G>A (p.Lys208=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2970787	NM_002454.3(MTRR):c.1866A>G (p.Ala622=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2970460	NM_002454.3(MTRR):c.908_909del (p.Thr303fs)	MTRR (T303fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 2969425	NM_002454.3(MTRR):c.780+19A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2966516	NM_002454.3(MTRR):c.904-18A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2966148	NM_002454.3(MTRR):c.401+14T>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2964673	NM_002454.3(MTRR):c.1953-19T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2963578	NM_002454.3(MTRR):c.904-2A>G	MTRR	Single nucleotide variant (splice acceptor variant)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 2963186	NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)	MTRR (Y44*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 2961951	NM_002454.3(MTRR):c.1770-12A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2960418	NM_002454.3(MTRR):c.1370+12T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2954800	NM_002454.3(MTRR):c.915T>C (p.Phe305=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2918914	NM_002454.3(MTRR):c.1147-15G>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2918568	NM_002454.3(MTRR):c.1327+11G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2916654	NM_002454.3(MTRR):c.904-12G>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2913971	NM_002454.3(MTRR):c.984C>T (p.Leu328=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2912785	NM_002454.3(MTRR):c.284-17del	MTRR	Deletion (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2911049	NM_002454.3(MTRR):c.1770-14A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2910716	NM_002454.3(MTRR):c.1953-16T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2908186	NM_002454.3(MTRR):c.1953-14_1953-12del	MTRR	Microsatellite (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2908045	NM_002454.3(MTRR):c.401+17C>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2903988	NM_002454.3(MTRR):c.2049G>C (p.Leu683=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2903936	NM_002454.3(MTRR):c.1147-14G>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2901202	NM_002454.3(MTRR):c.780+17T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2897794	NM_002454.3(MTRR):c.1558-14A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2896680	NM_002454.3(MTRR):c.1147-17C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2895717	NM_002454.3(MTRR):c.1545C>T (p.Ala515=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2895170	NM_002454.3(MTRR):c.51C>T (p.Ala17=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2894790	NM_002454.3(MTRR):c.1952+17C>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2894779	NM_002454.3(MTRR):c.130-18G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2891679	NM_002454.3(MTRR):c.402-18T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2890267	NM_002454.3(MTRR):c.1769+9C>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2888330	NM_002454.3(MTRR):c.1557+16C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2887796	NM_002454.3(MTRR):c.678C>T (p.Ser226=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2887080	NM_002454.3(MTRR):c.360C>T (p.Ala120=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2885812	NM_002454.3(MTRR):c.1057+12G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2883258	NM_002454.3(MTRR):c.1371-18G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2882854	NM_002454.3(MTRR):c.582G>A (p.Leu194=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2879050	NM_002454.3(MTRR):c.1146+13G>T	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2878437	NM_002454.3(MTRR):c.129+12T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2874072	NM_002454.3(MTRR):c.1506G>A (p.Gln502=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2867804	NM_002454.3(MTRR):c.1371-17T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2867602	NM_002454.3(MTRR):c.1371-11dup	MTRR	Duplication (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2860065	NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)	MTRR (Y44*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 2860022	NM_002454.3(MTRR):c.1884C>T (p.Asn628=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2859161	NM_002454.3(MTRR):c.903+9C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2859145	NM_002454.3(MTRR):c.2037A>G (p.Ala679=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2856869	NM_002454.3(MTRR):c.1327+8G>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2856700	NM_002454.3(MTRR):c.1251A>C (p.Val417=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2854114	NM_002454.3(MTRR):c.1952+10T>A	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2853216	NM_002454.3(MTRR):c.762G>A (p.Leu254=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2851812	NM_002454.3(MTRR):c.345T>G (p.Leu115=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2851594	NM_002454.3(MTRR):c.981A>G (p.Leu327=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2850526	NM_002454.3(MTRR):c.1328-13T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2849041	NM_002454.3(MTRR):c.1920C>T (p.Leu640=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2848981	NM_002454.3(MTRR):c.227del (p.Ile76fs)	MTRR (I76fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 2848746	NM_002454.3(MTRR):c.1953-15T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2848060	NM_002454.3(MTRR):c.1479G>A (p.Leu493=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2846103	NM_002454.3(MTRR):c.1632T>C (p.Gly544=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2845281	NM_002454.3(MTRR):c.1953-18T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2845054	NM_002454.3(MTRR):c.1327+19A>G	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2844303	NM_002454.3(MTRR):c.1386C>T (p.His462=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2843762	NM_002454.3(MTRR):c.1328-8T>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2843541	NM_002454.3(MTRR):c.1728G>A (p.Leu576=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2842846	NM_002454.3(MTRR):c.420G>A (p.Glu140=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2840679	NM_002454.3(MTRR):c.129+20A>C	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2838822	NM_002454.3(MTRR):c.678C>G (p.Ser226=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2835405	NM_002454.3(MTRR):c.1887C>T (p.Ile629=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2835370	NM_002454.3(MTRR):c.2079T>G (p.Leu693=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2831447	NM_002454.3(MTRR):c.858G>T (p.Thr286=)	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2825348	NM_002454.3(MTRR):c.1983T>C (p.His661=)	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	Methylcobalamin deficiency type cblE	GLikely benign
Select item 2823580	NM_002454.3(MTRR):c.401+17C>T	MTRR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblE	GLikely benign

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