Unique variants in gene MTHFR

Information The variants shown are described using the NM_005957.4 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-41728T>C benign r.(?) p.(=) g.11907659A>G - NPPA(NM_006172.3):c.83T>C (p.M28T) - NPPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-41717G>A benign r.(?) p.(=) g.11907648C>T - NPPA(NM_006172.3):c.94G>A (p.V32M), NPPA-AS1(NR_037806.1):c.1637C>T - NPPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-41672C>T benign r.(?) p.(=) g.11907603G>A - NPPA(NM_006172.3):c.123+16C>T, NPPA-AS1(NR_037806.1):c.1592G>A - NPPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-41671G>A benign r.(?) p.(=) g.11907602C>T - NPPA(NM_006172.3):c.123+17G>A - NPPA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-41518C>T benign r.(?) p.(=) g.11907449G>A - NPPA(NM_006172.3):c.171C>T (p.=) - NPPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.-41499A>C benign, likely benign r.(?) p.(=) g.11907430T>G - NPPA(NM_006172.3):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):c.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht, VKGL-NL_Leiden
-/. 1 - c.-41491G>A benign r.(?) p.(=) g.11907422C>T - NPPA(NM_006172.3):c.198G>A (p.=) - NPPA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-41480_-41479del VUS r.(?) p.(=) g.11907411_11907412del - NPPA(NM_006172.3):c.209_210delCG (p.A70Gfs*9) - NPPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-41342G>A VUS r.(?) p.(=) g.11907273C>T - NPPA(NM_006172.3):c.347G>A (p.R116K) - NPPA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-41248C>T benign r.(?) p.(=) g.11907179G>A - NPPA(NM_006172.3):c.441C>T (p.=), NPPA-AS1(NR_037806.1):c.1480-312G>A - NPPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-40137T>C benign r.(?) p.(=) g.11906068A>G - NPPA(NM_006172.3):c.454T>C (p.*152Rext*2), NPPA-AS1(NR_037806.1):c.1479+245A>G - NPPA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.117C>T benign r.(?) p.(=) g.11863057G>A - MTHFR(NM_005957.4):c.117C>T (p.= (p.Pro39Pro)) - MTHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - c.236+3A>G VUS r.spl? p.? g.11862935T>C - MTHFR(NM_005957.4):c.236+3A>G (p.?) - MTHFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.276C>T likely benign r.(?) p.(=) g.11861417G>A - MTHFR(NM_001330358.1):c.399C>T (p.D133=) - MTHFR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.337G>T VUS r.(?) p.(Ala113Ser) g.11861356C>A - MTHFR(NM_005957.4):c.337G>T (p.A113S) - MTHFR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.376C>T likely benign r.(?) p.(=) g.11861317G>A - MTHFR(NM_005957.4):c.376C>T (p.L126=) - MTHFR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.475+15C>T benign r.(=) p.(=) g.11861203G>A - MTHFR(NM_005957.4):c.475+15C>T - MTHFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.476-76G>A likely benign r.(=) p.(=) g.11860455C>T - MTHFR(NM_005957.4):c.476-76G>A - MTHFR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.476-56A>G likely benign r.(=) p.(=) g.11860435T>C - MTHFR(NM_005957.4):c.476-56A>G - MTHFR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.654G>A likely benign r.(?) p.(=) g.11856389C>T - MTHFR(NM_005957.4):c.654G>A (p.V218=) - MTHFR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./., -/., +/. 5 - c.665C>T benign, benign (*) r.(?) p.(Ala222Val) g.11856378G>A g.11796321G>A MTHFR(NM_005957.4):c.665C>T (p.A222V), 677C>T - MTHFR_000023 for details see the Uveogene database, VKGL data sharing initiative Nederland, 1 more item PubMed: Ates 2012, PubMed: Waheed 2012 - rs1801133 Germline, CLASSIFICATION record - 151/636 cases - - - Peizeng Yang, VKGL-NL_Nijmegen, Johan den Dunnen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.673A>G likely benign r.(?) p.(Ile225Val) g.11856370T>C - MTHFR(NM_001330358.1):c.796A>G (p.I266V) - MTHFR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.732C>T likely benign r.(?) p.(=) g.11856311G>A - MTHFR(NM_005957.4):c.732C>T (p.T244=) - MTHFR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.733G>A likely benign r.(?) p.(Asp245Asn) g.11856310C>T - MTHFR(NM_005957.4):c.733G>A (p.D245N) - MTHFR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.797G>A VUS r.(?) p.(Arg266Gln) g.11855389C>T - MTHFR(NM_005957.4):c.797G>A (p.R266Q) - MTHFR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.870C>T likely benign r.(?) p.(=) g.11855316G>A - MTHFR(NM_005957.4):c.870C>T (p.N290=) - MTHFR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 - c.1006C>A likely pathogenic r.(?) p.(Leu336Met) g.11855180G>T - - - MTHFR_000051 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.1029C>G likely benign r.(?) p.(=) g.11855157G>C - MTHFR(NM_005957.4):c.1029C>G (p.(=)) - MTHFR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1056C>T benign r.(?) p.(=) g.11854896G>A - MTHFR(NM_005957.4):c.1056C>T (p.= (p.Ser352Ser)) - MTHFR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.1072C>T pathogenic r.(?) p.(Arg358*) g.11854880G>A - MTHFR(NM_005957.4):c.1072C>T (p.(Arg358*)) - MTHFR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1078G>T pathogenic r.(?) p.(Glu360*) g.11854874C>A - MTHFR(NM_005957.4):c.1078G>T (p.E360*) - MTHFR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1162C>T VUS r.(?) p.(Arg388Cys) g.11854790G>A - MTHFR(NM_005957.4):c.1162C>T (p.R388C) - MTHFR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1166+5G>C VUS r.spl? p.? g.11854781C>G - MTHFR(NM_005957.4):c.1166+5G>C - MTHFR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1166+31C>T benign r.(=) p.(=) g.11854755G>A - MTHFR(NM_005957.4):c.1166+31C>T (p.?) - MTHFR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1167-76G>T benign r.(=) p.(=) g.11854671C>A - MTHFR(NM_005957.4):c.1167-76G>T (p.?) - MTHFR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1264G>A likely benign r.(?) p.(Gly422Arg) g.11854498C>T - MTHFR(NM_005957.4):c.1264G>A (p.G422R) - MTHFR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1286A>C benign r.(?) p.(Glu429Ala) g.11854476T>G - MTHFR(NM_005957.4):c.1286A>C (p.E429A) - MTHFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 4 - c.1305C>T benign r.(?) p.(=) g.11854457G>A - MTHFR(NM_005957.4):c.1305C>T (p.F435=) - MTHFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1347+20G>A likely benign r.(=) p.(=) g.11854395C>T - MTHFR(NM_005957.4):c.1347+20G>A (p.?) - MTHFR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 2 - c.1408G>C VUS, likely benign r.(?) p.(Glu470Gln) g.11854086C>G - MTHFR(NM_005957.4):c.1408G>C (p.(Glu470Gln)) - MTHFR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.1408_1409delinsCT VUS r.(?) p.(Glu470Leu) g.11854085_11854086delinsAG - MTHFR(NM_005957.4):c.1408_1409delGAinsCT (p.E470L) - MTHFR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 3 - c.1409A>T VUS, likely benign r.(?) p.(Glu470Val) g.11854085T>A - MTHFR(NM_005957.4):c.1409A>T (p.E470V) - MTHFR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.1448A>G VUS r.(?) p.(Asn483Ser) g.11854046T>C - MTHFR(NM_005957.4):c.1448A>G (p.N483S) - MTHFR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.1476G>A benign r.(?) p.(=) g.11854018C>T - MTHFR(NM_005957.4):c.1476G>A (p.= (p.Pro492Pro)) - MTHFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 1 - c.1507A>C likely benign r.(?) p.(Ser503Arg) g.11853987T>G - MTHFR(NM_005957.4):c.1507A>C (p.S503R) - MTHFR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1521C>T likely benign r.(?) p.(=) g.11853973G>A - MTHFR(NM_001330358.1):c.1644C>T (p.V548=) - MTHFR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1531-80G>A benign r.(=) p.(=) g.11852516C>T - MTHFR(NM_005957.4):c.1531-80G>A - MTHFR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 - c.1555C>T VUS r.(?) p.(Arg519Cys) g.11852412G>A - MTHFR(NM_005957.4):c.1555C>T (p.R519C) - MTHFR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.1752+45G>A likely benign r.(=) p.(=) g.11851219C>T - MTHFR(NM_005957.4):c.1752+45G>A - MTHFR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1761C>T likely benign r.(?) p.(=) g.11850947G>A - MTHFR(NM_005957.4):c.1761C>T (p.A587=) - MTHFR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.1780C>T VUS r.(?) p.(Arg594Trp) g.11850928G>A - MTHFR(NM_005957.4):c.1780C>T (p.R594W) - MTHFR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., ./., -/. 13 - c.1781G>A benign r.(?) p.(Arg594Gln) g.11850927C>T g.11790870C>T MTHFR(NM_005957.4):c.1781G>A (p.R594Q) - MTHFR_000001 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL
-?/. 1 - c.1940C>T likely benign r.(?) p.(Thr647Ile) g.11850768G>A - MTHFR(NM_005957.4):c.1940C>T (p.(Thr647Ile)) - MTHFR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1952G>A VUS r.(?) p.(Arg651Lys) g.11850756C>T - MTHFR(NM_005957.4):c.1952G>A (p.(Arg651Lys)) - MTHFR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1958C>T benign r.(?) p.(Thr653Met) g.11850750G>A - MTHFR(NM_005957.4):c.1958C>T (p.T653M) - MTHFR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.*2809T>C VUS r.(=) p.(=) g.11847928A>G - C1orf167(NM_001010881.1):c.3674-2A>G - MTHFR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*3201G>C VUS r.(=) p.(=) g.11847536C>G - C1orf167(NM_001010881.1):c.3659C>G (p.T1220R) - MTHFR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*14046C>G VUS r.(=) p.(=) g.11836691G>C - C1orf167(NM_001010881.1):c.2335G>C (p.A779P) - MTHFR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.*14184C>A benign r.(=) p.(=) g.11836553G>T - C1orf167(NM_001010881.1):c.2197G>T (p.A733S) - C1orf167_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*19081G>A likely benign r.(=) p.(=) g.11831656C>T - C1orf167(NM_001010881.1):c.1773C>T (p.H591=) - C1orf167_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*22410G>A VUS r.(=) p.(=) g.11828327C>T - C1orf167(NM_001010881.1):c.1537C>T (p.R513*) - C1orf167_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*23592T>C VUS r.(=) p.(=) g.11827145A>G - C1orf167(XM_003118845.2):c.1299+3A>G (p.(=)) - MTHFR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*24809G>A likely benign r.(=) p.(=) g.11825928C>T - C1orf167(NM_001010881.1):c.85C>T (p.R29W) - MTHFR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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