Related gene-specific medical variations for Gene (Select 4552) - ClinVar

Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3239815	NM_002454.3(MTRR):c.1677-1G>C	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 3239813	NM_002454.3(MTRR):c.1952+2T>C	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 3239812	NM_002454.3(MTRR):c.378_384del (p.Gly127fs)	MTRR (G127fs)	Deletion (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 3239811	NM_002454.3(MTRR):c.574G>T (p.Glu192Ter)	MTRR (E192*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 3092994	NM_024091.4(FASTKD3):c.859A>G (p.Ile287Val)	FASTKD3, MTRR (I287V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092993	NM_024091.4(FASTKD3):c.744G>T (p.Leu248Phe)	FASTKD3, MTRR (L248F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092992	NM_024091.4(FASTKD3):c.632G>T (p.Gly211Val)	FASTKD3, MTRR (G211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092990	NM_024091.4(FASTKD3):c.224C>T (p.Pro75Leu)	FASTKD3, MTRR (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092989	NM_024091.4(FASTKD3):c.1556A>C (p.Lys519Thr)	FASTKD3, MTRR (K519T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092988	NM_024091.4(FASTKD3):c.1408T>C (p.Phe470Leu)	FASTKD3, MTRR (F470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092985	NM_024091.4(FASTKD3):c.1103C>T (p.Pro368Leu)	FASTKD3, MTRR (P368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058082	NM_002454.3(MTRR):c.-45G>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	MTRR-related disorder	GLikely benign
Select item 2690648	NM_002454.3(MTRR):c.903+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 2676889	NM_002454.3(MTRR):c.1669C>T (p.Gln557Ter)	MTRR (Q557*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676888	NM_002454.3(MTRR):c.1072del (p.Gln358fs)	MTRR (Q358fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676887	NM_002454.3(MTRR):c.1241del (p.Ser414fs)	MTRR (S414fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676886	NM_002454.3(MTRR):c.835del (p.Ser279fs)	MTRR (S279fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676885	NM_002454.3(MTRR):c.1496C>G (p.Ser499Ter)	MTRR (S499*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676884	NM_002454.3(MTRR):c.1057+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676883	NM_002454.3(MTRR):c.1943_1944del (p.Tyr648fs)	MTRR (Y648fs)	Deletion (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GUncertain significance
Select item 2676882	NM_002454.3(MTRR):c.701dup (p.Leu235fs)	MTRR (L235fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676881	NM_002454.3(MTRR):c.276del (p.Leu93fs)	MTRR (L93fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676880	NM_002454.3(MTRR):c.1599_1606del (p.Asp534fs)	MTRR (D534fs)	Deletion (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676879	NM_002454.3(MTRR):c.1508dup (p.Asn504fs)	MTRR (N504fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676877	NM_002454.3(MTRR):c.524C>A (p.Ser175Ter)	MTRR (S175*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676876	NM_002454.3(MTRR):c.568C>T (p.Gln190Ter)	MTRR (Q190*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676875	NM_002454.3(MTRR):c.372T>G (p.Tyr124Ter)	MTRR (Y124*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676874	NM_002454.3(MTRR):c.1952+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676873	NM_002454.3(MTRR):c.324dup (p.Lys109fs)	MTRR (K109fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676872	NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)	MTRR (S199*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676871	NM_002454.3(MTRR):c.1146+1G>A	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676870	NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)	MTRR (E40*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676869	NM_002454.3(MTRR):c.129+2T>G	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676868	NM_002454.3(MTRR):c.916dup (p.Ser306fs)	MTRR (S306fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676867	NM_002454.3(MTRR):c.130-2A>G	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676866	NM_002454.3(MTRR):c.1677-2A>G	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676865	NM_002454.3(MTRR):c.358del (p.Ala120fs)	MTRR (A120fs)	Deletion (non-coding transcript variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676864	NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)	MTRR (P82L)	Single nucleotide variant (missense variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676863	NM_002454.3(MTRR):c.440G>A (p.Trp147Ter)	MTRR (W147*)	Single nucleotide variant (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676862	NM_002454.3(MTRR):c.-25-1G>A	MTRR	Single nucleotide variant (splice acceptor variant)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676861	NM_002454.3(MTRR):c.1672dup (p.His558fs)	MTRR (H558fs)	Duplication (frameshift variant +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2676860	NM_002454.3(MTRR):c.1805_1806delinsAAGATC (p.Leu602Ter)	MTRR (L602*)	Indel (nonsense +1 more)	Neural tube defects, folate-sensitive	GLikely pathogenic
Select item 2606059	NM_024091.4(FASTKD3):c.1150C>T (p.Leu384Phe)	FASTKD3, MTRR (L384F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605533	NM_024091.4(FASTKD3):c.352T>C (p.Phe118Leu)	FASTKD3, MTRR (F118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592753	NM_024091.4(FASTKD3):c.1430G>A (p.Arg477Gln)	FASTKD3, MTRR (R477Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511399	NM_024091.4(FASTKD3):c.629A>G (p.Lys210Arg)	FASTKD3, MTRR (K210R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495432	NM_024091.4(FASTKD3):c.989C>G (p.Thr330Ser)	FASTKD3, MTRR (T330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477268	NM_024091.4(FASTKD3):c.658A>G (p.Ile220Val)	FASTKD3, MTRR (I220V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476538	NM_024091.4(FASTKD3):c.1026A>G (p.Ile342Met)	FASTKD3, MTRR (I342M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2441590	NM_002454.3(MTRR):c.1676+2T>C	MTRR	Single nucleotide variant (splice donor variant)	Neural tube defects, folate-sensitive +1 more	GLikely pathogenic
Select item 2433831	NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)	MTRR (R121Q)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2408551	NM_024091.4(FASTKD3):c.335C>T (p.Ser112Leu)	FASTKD3, MTRR (S112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401406	NM_024091.4(FASTKD3):c.1162A>G (p.Ile388Val)	FASTKD3, MTRR (I388V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397179	NM_024091.4(FASTKD3):c.620G>T (p.Arg207Leu)	FASTKD3, MTRR (R207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389515	NM_024091.4(FASTKD3):c.1256A>G (p.Asn419Ser)	FASTKD3, MTRR (N419S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387476	NM_024091.4(FASTKD3):c.1580C>T (p.Ser527Phe)	FASTKD3, MTRR (S527F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362774	NM_024091.4(FASTKD3):c.647G>A (p.Arg216His)	FASTKD3, MTRR (R216H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353813	NM_024091.4(FASTKD3):c.526A>G (p.Thr176Ala)	FASTKD3, MTRR (T176A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348581	NM_024091.4(FASTKD3):c.712C>A (p.Leu238Ile)	FASTKD3, MTRR (L238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324216	NM_024091.4(FASTKD3):c.1267C>T (p.Pro423Ser)	FASTKD3, MTRR (P423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312603	NM_024091.4(FASTKD3):c.998A>G (p.Glu333Gly)	FASTKD3, MTRR (E333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301928	NM_024091.4(FASTKD3):c.442G>A (p.Gly148Arg)	FASTKD3, MTRR (G148R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284101	NM_024091.4(FASTKD3):c.1956T>A (p.Phe652Leu)	FASTKD3, MTRR (F652L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278937	NM_024091.4(FASTKD3):c.256G>T (p.Asp86Tyr)	FASTKD3, MTRR (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274390	NM_024091.4(FASTKD3):c.1466G>T (p.Ser489Ile)	FASTKD3, MTRR (S489I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262275	NM_024091.4(FASTKD3):c.1469G>A (p.Arg490Gln)	FASTKD3, MTRR (R490Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255278	NM_024091.4(FASTKD3):c.647G>T (p.Arg216Leu)	FASTKD3, MTRR (R216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234968	NM_024091.4(FASTKD3):c.1213C>T (p.Pro405Ser)	FASTKD3, MTRR (P405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225624	NM_024091.4(FASTKD3):c.789G>C (p.Leu263Phe)	FASTKD3, MTRR (L263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207642	NM_024091.4(FASTKD3):c.1019C>T (p.Ala340Val)	FASTKD3, MTRR (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1324750	NM_002454.3(MTRR):c.916del (p.Ser306fs)	MTRR (S306fs)	Deletion (non-coding transcript variant +1 more)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 1291445	NM_002454.3(MTRR):c.-26+129del	LOC129993631, MTRR	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1272657	NM_002454.3(MTRR):c.-26+250C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1220005	NM_002454.3(MTRR):c.-26+263C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1098712	NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)	MTRR (D659E)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 992058	NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)	MTRR (A573T)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 992057	NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)	MTRR (V497A)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 992056	NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)	MTRR (C455S)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 907875	NM_002454.3(MTRR):c.-26G>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 906886	NM_002454.3(MTRR):c.-28T>G	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 906885	NM_002454.3(MTRR):c.-31G>A	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 906884	NM_002454.3(MTRR):c.-41G>C	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 790563	NM_024091.4(FASTKD3):c.1375G>C (p.Glu459Gln)	FASTKD3, MTRR (E459Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771859	NM_024091.4(FASTKD3):c.1296G>T (p.Leu432=)	FASTKD3, MTRR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 618732	NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr)	MTRR (D203Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 548477	NM_002454.3(MTRR):c.1165G>A (p.Val389Met)	MTRR (V389M)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 522636	NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter)	MTRR (L460*)	Single nucleotide variant (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 508943	NM_002454.3(MTRR):c.-26+6C>G	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 507091	NM_002454.3(MTRR):c.-26+8G>C	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 354341	NM_002454.3(MTRR):c.-26+14C>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 354340	NM_002454.3(MTRR):c.-26+11T>G	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +1 more)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 354339	NM_002454.2(MTRR):c.-135A>C	LOC129993631, MTRR	Single nucleotide variant (genic upstream transcript variant)	Disorders of Intracellular Cobalamin Metabolism	GUncertain significance
Select item 138303	NM_002454.2(MTRR):c.-119T>C	MTRR, LOC129993631	Single nucleotide variant (genic upstream transcript variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign
Select item 7027	MTRR, 4-BP DEL, NT1675	MTRR	Deletion	Methylcobalamin deficiency type cblE	GPathogenic

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Items: 97