ClinVar for MedGen (Select 344426) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065323	NM_000254.3(MTR):c.2406-1G>A	MTR	Single nucleotide variant (splice acceptor variant +1 more)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 3064022	NM_000254.3(MTR):c.2044-1G>T	MTR	Single nucleotide variant (intron variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3023464	NM_000254.3(MTR):c.1076-19A>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3023039	NM_000254.3(MTR):c.34+9G>A	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3022373	NM_000254.3(MTR):c.1516-15dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GBenign
Select item 3022069	NM_000254.3(MTR):c.2197-5C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3021907	NM_000254.3(MTR):c.2196+17G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3021115	NM_000254.3(MTR):c.2676+19A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3021103	NM_000254.3(MTR):c.3174C>T (p.Pro1058=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3020970	NM_000254.3(MTR):c.3327G>A (p.Glu1109=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3020917	NM_000254.3(MTR):c.1516-5C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3020425	NM_000254.3(MTR):c.1701A>G (p.Thr567=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3019620	NM_000254.3(MTR):c.3699T>A (p.Ile1233=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3019231	NM_000254.3(MTR):c.927+11C>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3019005	NM_000254.3(MTR):c.2076G>A (p.Glu692=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3018689	NM_000254.3(MTR):c.3727T>C (p.Leu1243=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3018443	NM_000254.3(MTR):c.30A>G (p.Gln10=)	LOC129932886, MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3017562	NM_000254.3(MTR):c.18A>G (p.Gln6=)	LOC129932886, MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3016640	NM_000254.3(MTR):c.3295C>T (p.Leu1099=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3016406	NM_000254.3(MTR):c.765-4C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3015503	NM_000254.3(MTR):c.2190A>G (p.Leu730=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3015464	NM_000254.3(MTR):c.213T>C (p.Ser71=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3015247	NM_000254.3(MTR):c.3205-13C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3015094	NM_000254.3(MTR):c.2677-15A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014856	NM_000254.3(MTR):c.765-12C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014849	NM_000254.3(MTR):c.1695+20C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014687	NM_000254.3(MTR):c.2852-13T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014686	NM_000254.3(MTR):c.3205-12C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3014323	NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)	MTR (R348fs +2 more)	Microsatellite (frameshift variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 3014308	NM_000254.3(MTR):c.1518A>C (p.Ala506=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3013598	NM_000254.3(MTR):c.2727C>A (p.Ile909=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3013363	NM_000254.3(MTR):c.670-11T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3013354	NM_000254.3(MTR):c.1515+14T>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3012941	NM_000254.3(MTR):c.865+10T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3012853	NM_000254.3(MTR):c.3008-19_3008-14del	MTR	Microsatellite (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3012508	NM_000254.3(MTR):c.327C>T (p.Gly109=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3011237	NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)	MTR (Q511* +3 more)	Single nucleotide variant (nonsense)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 3011028	NM_000254.3(MTR):c.2967G>A (p.Pro989=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3009893	NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)	MTR (D376N +2 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 3008707	NM_000254.3(MTR):c.2787C>T (p.Tyr929=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3008260	NM_000254.3(MTR):c.3519G>A (p.Pro1173=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3007887	NM_000254.3(MTR):c.2405+20C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3007486	NM_000254.3(MTR):c.1404T>C (p.Ile468=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3006737	NM_000254.3(MTR):c.3406-4C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3006166	NM_000254.3(MTR):c.250-15A>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3005772	NM_000254.3(MTR):c.1189-7C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3005329	NM_000254.3(MTR):c.2852-17A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3004601	NM_000254.3(MTR):c.34+15C>T	LOC129932886, MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3004595	NM_000254.3(MTR):c.1953+19T>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 3002305	NM_000254.3(MTR):c.2776-6dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GBenign
Select item 3002217	NM_000254.3(MTR):c.2139del (p.Met713fs)	MTR (M713fs +1 more)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 3000438	NM_000254.3(MTR):c.3414A>G (p.Ala1138=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2999566	NM_000254.3(MTR):c.670-20T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2997030	NM_000254.3(MTR):c.865+18dup	MTR	Duplication (intron variant)	Methylcobalamin deficiency type cblG	GBenign
Select item 2996971	NM_000254.3(MTR):c.2805C>T (p.Ala935=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2996490	NM_000254.3(MTR):c.2517A>G (p.Glu839=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2996010	NM_000254.3(MTR):c.2913C>T (p.Asp971=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2995083	NM_000254.3(MTR):c.3205-9G>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2994828	NM_000254.3(MTR):c.2595-8C>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2993629	NM_000254.3(MTR):c.2305-11T>C	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2993462	NM_000254.3(MTR):c.3564C>T (p.Thr1188=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2992977	NM_000254.3(MTR):c.1092G>A (p.Arg364=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2992781	NM_000254.3(MTR):c.726G>A (p.Glu242=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2992572	NM_000254.3(MTR):c.609+14G>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2992388	NM_000254.3(MTR):c.1878A>G (p.Glu626=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2992290	NM_000254.3(MTR):c.2676+8G>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2990500	NM_000254.3(MTR):c.927+10C>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2989951	NM_000254.3(MTR):c.928-18G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2989665	NM_000254.3(MTR):c.865+7G>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2988752	NM_000254.3(MTR):c.1812+15C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2987921	NM_000254.3(MTR):c.1329+9A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2986956	NM_000254.3(MTR):c.1956T>C (p.Thr652=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2983950	NM_000254.3(MTR):c.1516-7T>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2983754	NM_000254.3(MTR):c.1530C>T (p.Asp510=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2983703	NM_000254.3(MTR):c.2406-2A>T	MTR	Single nucleotide variant (splice acceptor variant +1 more)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 2983209	NM_000254.3(MTR):c.2856G>A (p.Lys952=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2982725	NM_000254.3(MTR):c.154C>T (p.Arg52Ter)	MTR (R52*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 2980599	NM_000254.3(MTR):c.1248C>T (p.Asn416=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2979213	NM_000254.3(MTR):c.192A>G (p.Lys64=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2979107	NM_000254.3(MTR):c.99G>A (p.Leu33=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2978761	NM_000254.3(MTR):c.2325C>A (p.Ile775=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2975443	NM_000254.3(MTR):c.249+11C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2975405	NM_000254.3(MTR):c.2898G>A (p.Leu966=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2974674	NM_000254.3(MTR):c.865+18G>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2973136	NM_000254.3(MTR):c.573dup (p.Leu192fs)	MTR (L192fs)	Duplication (frameshift variant +1 more)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 2972719	NM_000254.3(MTR):c.894T>C (p.Asp298=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2972357	NM_000254.3(MTR):c.630A>G (p.Gln210=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2972254	NM_000254.3(MTR):c.3008-2A>G	MTR	Single nucleotide variant (splice acceptor variant)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 2970647	NM_000254.3(MTR):c.35-14del	MTR	Deletion (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2970454	NM_000254.3(MTR):c.1076-9C>T	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2970376	NM_000254.3(MTR):c.1566G>T (p.Leu522=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2970300	NM_000254.3(MTR):c.1812+16T>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2967641	NM_000254.3(MTR):c.2637T>C (p.Pro879=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2966376	NM_000254.3(MTR):c.3205-16A>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2965980	NM_000254.3(MTR):c.3114G>A (p.Gln1038=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2965334	NM_000254.3(MTR):c.792A>G (p.Ala264=)	MTR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2965227	NM_000254.3(MTR):c.3198G>A (p.Arg1066=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2964628	NM_000254.3(MTR):c.3258C>T (p.Ile1086=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign
Select item 2964601	NM_000254.3(MTR):c.2595-3del	MTR	Deletion (intron variant)	Methylcobalamin deficiency type cblG	GBenign
Select item 2964037	NM_000254.3(MTR):c.3243C>T (p.Cys1081=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG	GLikely benign

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