All transcript variants in gene MTHFR

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

115 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
-/. - c.-41728T>C r.(?) - - benign g.11907659A>G g.11847602A>G NPPA(NM_006172.3):c.83T>C (p.M28T) - NPPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-41717G>A r.(?) - - benign g.11907648C>T g.11847591C>T NPPA(NM_006172.3):c.94G>A (p.V32M), NPPA-AS1(NR_037806.1):n.1637C>T - NPPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-41672C>T r.(?) - - benign g.11907603G>A g.11847546G>A NPPA(NM_006172.3):c.123+16C>T, NPPA-AS1(NR_037806.1):n.1592G>A - NPPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-41671G>A r.(?) - - benign g.11907602C>T g.11847545C>T NPPA(NM_006172.3):c.123+17G>A - NPPA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-41554C>T r.(?) - - benign g.11907485G>A g.11847428G>A NPPA(NM_006172.3):c.135C>T (p.D45=) - MTHFR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-41518C>T r.(?) - - benign g.11907449G>A g.11847392G>A NPPA(NM_006172.3):c.171C>T (p.V57=) - NPPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-41499A>C r.(?) - - benign g.11907430T>G g.11847373T>G NPPA(NM_006172.3):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-41499A>C r.(?) - - likely benign g.11907430T>G g.11847373T>G NPPA(NM_006172.3):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.-41491G>A r.(?) - - benign g.11907422C>T g.11847365C>T NPPA(NM_006172.3):c.198G>A (p.P66=) - NPPA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-41480_-41479del r.(?) - - VUS g.11907411_11907412del g.11847354_11847355del NPPA(NM_006172.3):c.209_210delCG (p.A70Gfs*9) - NPPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-41397G>A r.(?) - - likely benign g.11907328C>T g.11847271C>T NPPA(NM_006172.3):c.292G>A (p.G98R) - MTHFR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-41351G>C r.(?) - - VUS g.11907282C>G g.11847225C>G NPPA(NM_006172.3):c.338G>C (p.S113T) - MTHFR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-41342G>A r.(?) - - VUS g.11907273C>T g.11847216C>T NPPA(NM_006172.3):c.347G>A (p.R116K) - NPPA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-41338G>A r.(?) - - likely benign g.11907269C>T g.11847212C>T - - MTHFR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-41301T>C r.(?) - - likely pathogenic g.11907232A>G g.11847175A>G - - MTHFR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-41248C>T r.(?) - - benign g.11907179G>A g.11847122G>A NPPA(NM_006172.3):c.441C>T (p.N147=), NPPA-AS1(NR_037806.1):n.1480-312G>A - NPPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-41241C>T r.(?) - - VUS g.11907172G>A g.11847115G>A - - MTHFR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-40137T>C r.(?) - - benign g.11906068A>G g.11846011A>G NPPA(NM_006172.3):c.454T>C (p.*152Rext*2), NPPA-AS1(NR_037806.1):n.1479+245A>G - NPPA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.117C>T r.(?) p.(=) - benign g.11863057G>A g.11803000G>A MTHFR(NM_005957.4):c.117C>T (p.P39=) - MTHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.117C>T r.(?) p.(=) - benign g.11863057G>A g.11803000G>A MTHFR(NM_005957.4):c.117C>T (p.P39=) - MTHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.117C>T r.(?) p.(=) - benign g.11863057G>A g.11803000G>A MTHFR(NM_005957.4):c.117C>T (p.P39=) - MTHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.136C>T r.(?) p.(Arg46Trp) - - g.11863038G>A g.11802981G>A - - MTHFR_000063 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs138189536 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.236+3A>G r.spl? p.? - VUS g.11862935T>C g.11802878T>C MTHFR(NM_005957.4):c.236+3A>G - MTHFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.276C>T r.(?) p.(=) - likely benign g.11861417G>A g.11801360G>A MTHFR(NM_001330358.1):c.399C>T (p.D133=) - MTHFR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.337G>T r.(?) p.(Ala113Ser) - VUS g.11861356C>A g.11801299C>A MTHFR(NM_005957.4):c.337G>T (p.A113S) - MTHFR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.376C>T r.(?) p.(=) - likely benign g.11861317G>A g.11801260G>A MTHFR(NM_005957.4):c.376C>T (p.L126=) - MTHFR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.401G>T r.(?) p.(Arg134Leu) - likely benign g.11861292C>A g.11801235C>A MTHFR(NM_001330358.1):c.524G>T (p.R175L) - MTHFR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.459C>G r.(?) p.(Ile153Met) - pathogenic g.11861234G>C g.11801177G>C MTHFR(NM_001330358.1):c.582C>G (p.I194M) - MTHFR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.475+15C>T r.(=) p.(=) - benign g.11861203G>A g.11801146G>A MTHFR(NM_005957.4):c.475+15C>T - MTHFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.476-76G>A r.(=) p.(=) - likely benign g.11860455C>T g.11800398C>T MTHFR(NM_005957.4):c.476-76G>A - MTHFR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.476-56A>G r.(=) p.(=) - likely benign g.11860435T>C g.11800378T>C MTHFR(NM_005957.4):c.476-56A>G - MTHFR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.653T>C r.(?) p.(Val218Ala) - VUS g.11856390A>G g.11796333A>G MTHFR(NM_001330358.1):c.776T>C (p.V259A) - MTHFR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.654G>A r.(?) p.(=) - likely benign g.11856389C>T g.11796332C>T MTHFR(NM_005957.4):c.654G>A (p.V218=) - MTHFR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.665C>T r.(?) p.(Ala222Val) - benign g.11856378G>A g.11796321G>A MTHFR(NM_005957.4):c.665C>T (p.A222V) - MTHFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.665C>T r.(?) p.(Ala222Val) - benign g.11856378G>A g.11796321G>A MTHFR(NM_005957.4):c.665C>T (p.A222V) - MTHFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.665C>T r.(?) p.(Ala222Val) - benign g.11856378G>A g.11796321G>A MTHFR(NM_005957.4):c.665C>T (p.A222V) - MTHFR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
./. - c.665C>T r.(?) p.(Ala222Val) - - g.11856378G>A g.11796321G>A - - MTHFR_000023 for details see the Uveogene database PubMed: Ates 2012 - rs1801133 Germline - 151/636 cases - 0 - Peizeng Yang
+/. - c.665C>T r.(?) p.(Ala222Val) - benign (*) g.11856378G>A g.11796321G>A 677C>T - MTHFR_000023 seggregates with hyperhomocysteinemia PubMed: Waheed 2012 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.673A>G r.(?) p.(Ile225Val) - likely benign g.11856370T>C g.11796313T>C MTHFR(NM_001330358.1):c.796A>G (p.I266V) - MTHFR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.718G>A r.(?) p.(Val240Met) - VUS g.11856325C>T g.11796268C>T MTHFR(NM_001330358.1):c.841G>A (p.V281M) - MTHFR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.732C>T r.(?) p.(=) - likely benign g.11856311G>A g.11796254G>A MTHFR(NM_005957.4):c.732C>T (p.T244=) - MTHFR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.733G>A r.(?) p.(Asp245Asn) - likely benign g.11856310C>T g.11796253C>T MTHFR(NM_005957.4):c.733G>A (p.D245N) - MTHFR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.780+3G>A r.spl? p.? - likely benign g.11856260C>T g.11796203C>T MTHFR(NM_001330358.1):c.903+3G>A - MTHFR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.797G>A r.(?) p.(Arg266Gln) - VUS g.11855389C>T g.11795332C>T MTHFR(NM_005957.4):c.797G>A (p.R266Q) - MTHFR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.870C>T r.(?) p.(=) - likely benign g.11855316G>A g.11795259G>A MTHFR(NM_005957.4):c.870C>T (p.N290=) - MTHFR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.870C>T r.(?) p.(=) - likely benign g.11855316G>A g.11795259G>A MTHFR(NM_005957.4):c.870C>T (p.N290=) - MTHFR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1006C>A r.(?) p.(Leu336Met) - likely pathogenic g.11855180G>T g.11795123G>T - - MTHFR_000051 - - - - Unknown - - - 0 - IMGAG
-?/. - c.1029C>G r.(?) p.(=) - likely benign g.11855157G>C g.11795100G>C MTHFR(NM_005957.4):c.1029C>G (p.(=)) - MTHFR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1056C>T r.(?) p.(=) - benign g.11854896G>A g.11794839G>A MTHFR(NM_005957.4):c.1056C>T (p.S352=) - MTHFR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1056C>T r.(?) p.(=) - benign g.11854896G>A g.11794839G>A MTHFR(NM_005957.4):c.1056C>T (p.S352=) - MTHFR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1056C>T r.(?) p.(=) - benign g.11854896G>A g.11794839G>A MTHFR(NM_005957.4):c.1056C>T (p.S352=) - MTHFR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1072C>T r.(?) p.(Arg358*) - pathogenic g.11854880G>A g.11794823G>A - - MTHFR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1078G>T r.(?) p.(Glu360*) - pathogenic g.11854874C>A g.11794817C>A MTHFR(NM_005957.4):c.1078G>T (p.E360*) - MTHFR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1162C>T r.(?) p.(Arg388Cys) - VUS g.11854790G>A g.11794733G>A MTHFR(NM_005957.4):c.1162C>T (p.R388C) - MTHFR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1166+5G>C r.spl? p.? - VUS g.11854781C>G g.11794724C>G MTHFR(NM_005957.4):c.1166+5G>C - MTHFR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1166+31C>T r.(=) p.(=) - benign g.11854755G>A g.11794698G>A - - MTHFR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1167-76G>T r.(=) p.(=) - benign g.11854671C>A g.11794614C>A - - MTHFR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1264G>A r.(?) p.(Gly422Arg) - likely benign g.11854498C>T g.11794441C>T MTHFR(NM_005957.4):c.1264G>A (p.G422R) - MTHFR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1286A>C r.(?) p.(Glu429Ala) - benign g.11854476T>G g.11794419T>G MTHFR(NM_005957.4):c.1286A>C (p.E429A) - MTHFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1286A>C r.(?) p.(Glu429Ala) - benign g.11854476T>G g.11794419T>G MTHFR(NM_005957.4):c.1286A>C (p.E429A) - MTHFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1286A>C r.(?) p.(Glu429Ala) - benign g.11854476T>G g.11794419T>G MTHFR(NM_005957.4):c.1286A>C (p.E429A) - MTHFR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1305C>T r.(?) p.(=) - benign g.11854457G>A g.11794400G>A MTHFR(NM_005957.4):c.1305C>T (p.F435=) - MTHFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1305C>T r.(?) p.(=) - benign g.11854457G>A g.11794400G>A MTHFR(NM_005957.4):c.1305C>T (p.F435=) - MTHFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1305C>T r.(?) p.(=) - benign g.11854457G>A g.11794400G>A MTHFR(NM_005957.4):c.1305C>T (p.F435=) - MTHFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1305C>T r.(?) p.(=) - benign g.11854457G>A g.11794400G>A MTHFR(NM_005957.4):c.1305C>T (p.F435=) - MTHFR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1347+20G>A r.(=) p.(=) - likely benign g.11854395C>T g.11794338C>T - - MTHFR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1408G>C r.(?) p.(Glu470Gln) - VUS g.11854086C>G g.11794029C>G MTHFR(NM_001330358.1):c.1531G>C (p.E511Q), MTHFR(NM_005957.4):c.1408G>C (p.E470Q) - MTHFR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1408G>C r.(?) p.(Glu470Gln) - VUS g.11854086C>G g.11794029C>G MTHFR(NM_001330358.1):c.1531G>C (p.E511Q), MTHFR(NM_005957.4):c.1408G>C (p.E470Q) - MTHFR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1408_1409delinsCT r.(?) p.(Glu470Leu) - VUS g.11854085_11854086delinsAG g.11794028_11794029delinsAG MTHFR(NM_005957.4):c.1408_1409delGAinsCT (p.E470L) - MTHFR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1409A>T r.(?) p.(Glu470Val) - VUS g.11854085T>A g.11794028T>A MTHFR(NM_005957.4):c.1409A>T (p.E470V) - MTHFR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1409A>T r.(?) p.(Glu470Val) - likely benign g.11854085T>A g.11794028T>A MTHFR(NM_005957.4):c.1409A>T (p.E470V) - MTHFR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1448A>G r.(?) p.(Asn483Ser) - VUS g.11854046T>C g.11793989T>C MTHFR(NM_005957.4):c.1448A>G (p.N483S) - MTHFR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1476G>A r.(?) p.(=) - benign g.11854018C>T g.11793961C>T MTHFR(NM_005957.4):c.1476G>A (p.P492=) - MTHFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1476G>A r.(?) p.(=) - benign g.11854018C>T g.11793961C>T MTHFR(NM_005957.4):c.1476G>A (p.P492=) - MTHFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1476G>A r.(?) p.(=) - benign g.11854018C>T g.11793961C>T MTHFR(NM_005957.4):c.1476G>A (p.P492=) - MTHFR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1507A>C r.(?) p.(Ser503Arg) - likely benign g.11853987T>G g.11793930T>G MTHFR(NM_005957.4):c.1507A>C (p.S503R) - MTHFR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1521C>T r.(?) p.(=) - likely benign g.11853973G>A g.11793916G>A MTHFR(NM_001330358.1):c.1644C>T (p.V548=) - MTHFR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1531-80G>A r.(=) p.(=) - benign g.11852516C>T g.11792459C>T MTHFR(NM_005957.4):c.1531-80G>A - MTHFR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1555C>T r.(?) p.(Arg519Cys) - VUS g.11852412G>A g.11792355G>A MTHFR(NM_001330358.1):c.1678C>T (p.R560C), MTHFR(NM_005957.4):c.1555C>T (p.R519C) - MTHFR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1555C>T r.(?) p.(Arg519Cys) - VUS g.11852412G>A g.11792355G>A MTHFR(NM_001330358.1):c.1678C>T (p.R560C), MTHFR(NM_005957.4):c.1555C>T (p.R519C) - MTHFR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1555C>T r.(?) p.(Arg519Cys) - VUS g.11852412G>A g.11792355G>A MTHFR(NM_001330358.1):c.1678C>T (p.R560C), MTHFR(NM_005957.4):c.1555C>T (p.R519C) - MTHFR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1719C>T r.(?) p.(=) - likely benign g.11851297G>A g.11791240G>A - - MTHFR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1752+45G>A r.(=) p.(=) - likely benign g.11851219C>T g.11791162C>T MTHFR(NM_005957.4):c.1752+45G>A - MTHFR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1760C>A r.(?) p.(Ala587Asp) - VUS g.11850948G>T g.11790891G>T MTHFR(NM_001330358.1):c.1883C>A (p.A628D) - MTHFR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1761C>T r.(?) p.(=) - likely benign g.11850947G>A g.11790890G>A MTHFR(NM_005957.4):c.1761C>T (p.A587=) - MTHFR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1761C>T r.(?) p.(=) - likely benign g.11850947G>A g.11790890G>A MTHFR(NM_005957.4):c.1761C>T (p.A587=) - MTHFR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1780C>T r.(?) p.(Arg594Trp) - VUS g.11850928G>A g.11790871G>A MTHFR(NM_005957.4):c.1780C>T (p.R594W) - MTHFR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1781G>A r.(?) p.(Arg594Gln) - pathogenic (recessive) g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
./. - c.1781G>A r.(?) p.(Arg594Gln) - pathogenic (recessive) g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - VUS g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
?/. - c.1781G>A r.(?) p.(Arg594Gln) - - g.11850927C>T g.11790870C>T - - MTHFR_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
-/. - c.1781G>A r.(?) p.(Arg594Gln) - benign g.11850927C>T g.11790870C>T MTHFR(NM_005957.4):c.1781G>A (p.R594Q) - MTHFR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
Legend   « First ‹ Prev     1 2     Next › Last »