Full data view for gene MTHFR

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

213 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-834069_*2650736del r.0? p.0? Unknown - likely pathogenic g.9200001_12700000del g.9100001_12500000del CGH array deletion in Cr1p36.22 involving NMNAT1 gene, - MTHFR_000084 am apparent homozygous NMNAT1 mutation was found, probably on the other allele PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 16 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.-41824T>C r.(?) p.(=) Unknown - likely benign g.11907755A>G - NPPA(NM_006172.4):c.-14T>C - MTHFR_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41728T>C r.(?) p.(=) Unknown - benign g.11907659A>G g.11847602A>G NPPA(NM_006172.4):c.83T>C (p.M28T) - NPPA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41717G>A r.(?) p.(=) Unknown - benign g.11907648C>T g.11847591C>T NPPA(NM_006172.4):c.94G>A (p.V32M), NPPA-AS1(NR_037806.1):n.1637C>T - NPPA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41672C>T r.(?) p.(=) Unknown - benign g.11907603G>A g.11847546G>A NPPA(NM_006172.4):c.123+16C>T, NPPA-AS1(NR_037806.1):n.1592G>A - NPPA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41671G>A r.(?) p.(=) Unknown - benign g.11907602C>T g.11847545C>T NPPA(NM_006172.4):c.123+17G>A - NPPA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41561T>C r.(?) p.(=) Unknown - VUS g.11907492A>G - NPPA(NM_006172.4):c.128T>C (p.L43S) - MTHFR_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41561T>C r.(?) p.(=) Unknown - VUS g.11907492A>G - NPPA(NM_006172.4):c.128T>C (p.L43S) - MTHFR_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41554C>T r.(?) p.(=) Unknown - benign g.11907485G>A g.11847428G>A NPPA(NM_006172.4):c.135C>T (p.D45=) - MTHFR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41518C>T r.(?) p.(=) Unknown - benign g.11907449G>A g.11847392G>A NPPA(NM_006172.4):c.171C>T (p.V57=) - NPPA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41499A>C r.(?) p.(=) Unknown - benign g.11907430T>G g.11847373T>G NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41499A>C r.(?) p.(=) Unknown - likely benign g.11907430T>G g.11847373T>G NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41499A>C r.(?) p.(=) Unknown - likely benign g.11907430T>G g.11847373T>G NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41499A>C r.(?) p.(=) Unknown - likely benign g.11907430T>G - NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41499A>C r.(?) p.(=) Unknown - likely benign g.11907430T>G - NPPA(NM_006172.3):c.190A>C (p.S64R, p.(Ser64Arg)), NPPA(NM_006172.4):c.190A>C (p.S64R), NPPA-AS1(NR_037806.1):n.1480-61T>G - NPPA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41491G>A r.(?) p.(=) Unknown - benign g.11907422C>T g.11847365C>T NPPA(NM_006172.4):c.198G>A (p.P66=) - NPPA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41480C>T r.(?) p.(=) Unknown - VUS g.11907411G>A - NPPA(NM_006172.4):c.209C>T (p.A70V) - MTHFR_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41480_-41479del r.(?) p.(=) Unknown - VUS g.11907411_11907412del g.11847354_11847355del NPPA(NM_006172.4):c.209_210delCG (p.A70Gfs*9) - NPPA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41397G>A r.(?) p.(=) Unknown - likely benign g.11907328C>T g.11847271C>T NPPA(NM_006172.4):c.292G>A (p.G98R) - MTHFR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41351G>C r.(?) p.(=) Unknown - VUS g.11907282C>G g.11847225C>G NPPA(NM_006172.4):c.338G>C (p.S113T) - MTHFR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41342G>A r.(?) p.(=) Unknown - VUS g.11907273C>T g.11847216C>T NPPA(NM_006172.4):c.347G>A (p.R116K) - NPPA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-41338G>A r.(?) p.(=) Unknown - likely benign g.11907269C>T g.11847212C>T - - MTHFR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41312G>A r.(?) p.(=) Unknown - VUS g.11907243C>T - NPPA(NM_006172.3):c.377G>A (p.(Arg126Gln)) - MTHFR_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-41301T>C r.(?) p.(=) Unknown - likely pathogenic g.11907232A>G g.11847175A>G - - MTHFR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-41248C>T r.(?) p.(=) Unknown - benign g.11907179G>A g.11847122G>A NPPA(NM_006172.4):c.441C>T (p.N147=), NPPA-AS1(NR_037806.1):n.1480-312G>A - NPPA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41241C>T r.(?) p.(=) Unknown - VUS g.11907172G>A g.11847115G>A NPPA(NM_006172.4):c.448C>T (p.(Arg150Trp), p.R150W) - MTHFR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41241C>T r.(?) p.(=) Unknown - VUS g.11907172G>A - NPPA(NM_006172.4):c.448C>T (p.(Arg150Trp), p.R150W) - MTHFR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-41241C>T r.(?) p.(=) Unknown - VUS g.11907172G>A - NPPA(NM_006172.4):c.448C>T (p.(Arg150Trp), p.R150W) - MTHFR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-40137T>C r.(?) p.(=) Unknown - benign g.11906068A>G g.11846011A>G NPPA(NM_006172.4):c.454T>C (p.*152Rext*2), NPPA-AS1(NR_037806.1):n.1479+245A>G - NPPA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-34295G>T r.(?) p.(=) Unknown - VUS g.11900226C>A - CLCN6(NM_001286.5):c.2556C>A (p.(Asn852Lys)) - MTHFR_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32791C>T r.(?) p.(=) Unknown - VUS g.11898722G>A - CLCN6(NM_001286.3):c.2529+5G>A (p.?) - MTHFR_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-31539G>A r.(?) p.(=) Unknown - VUS g.11897470C>T - - - MTHFR_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-31276_-31248dup r.(?) p.(=) Unknown - VUS g.11897186_11897214dup - CLCN6(NM_001286.3):c.2111_2138+1dupACCTCCTGCAGCAGATGCTGGAAAGGAGG (p.?) - MTHFR_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-30133C>T r.(?) p.(=) Unknown - VUS g.11896064G>A - CLCN6(NM_001286.5):c.1834G>A (p.(Val612Ile)) - MTHFR_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-28661C>T r.(?) p.(=) Unknown - likely benign g.11894592G>A - CLCN6(NM_001286.5):c.1738G>A (p.V580M) - CLCN6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-28507T>C r.(?) p.(=) Unknown - likely benign g.11894438A>G - CLCN6(NM_001286.3):c.1672A>G (p.(Met558Val)) - MTHFR_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-28144T>C r.(?) p.(=) Unknown - likely benign g.11894075A>G - CLCN6(NM_001286.3):c.1514A>G (p.(Asn505Ser)) - MTHFR_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27732T>C r.(?) p.(=) Unknown - VUS g.11893663A>G - CLCN6(NM_001286.5):c.1340A>G (p.(Glu447Gly)) - MTHFR_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22696T>C r.(?) p.(=) Unknown - likely benign g.11888627A>G - CLCN6(NM_001286.3):c.1067A>G (p.(Lys356Arg)) - MTHFR_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-22305G>C r.(?) p.(=) Unknown - VUS g.11888236C>G - CLCN6(NM_001286.3):c.914C>G (p.(Ser305Cys)) - MTHFR_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21330C>T r.(?) p.(=) Unknown - VUS g.11887261G>A - CLCN6(NM_001286.5):c.823G>A (p.(Gly275Arg)) - MTHFR_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21279T>C r.(?) p.(=) Unknown - likely benign g.11887210A>G - CLCN6(NM_001286.5):c.772A>G (p.(Ile258Val)) - MTHFR_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-20301C>T r.(?) p.(=) Unknown - likely benign g.11886232G>A - CLCN6(NM_001286.3):c.668G>A (p.(Arg223Gln)) - MTHFR_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18630T>C r.(?) p.(=) Unknown - VUS g.11884561A>G - - - MTHFR_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18620C>T r.(?) p.(=) Unknown - likely benign g.11884551G>A - CLCN6(NM_001286.5):c.589G>A (p.(Val197Met)) - MTHFR_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18174T>C r.(?) p.(=) Unknown - likely benign g.11884105A>G - CLCN6(NM_001286.5):c.580+215A>G - MTHFR_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17879T>C r.(?) p.(=) Unknown - likely benign g.11883810A>G - CLCN6(NM_001286.5):c.500A>G (p.(Asn167Ser)) - MTHFR_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10798T>C r.(?) p.(=) Unknown - VUS g.11876729A>G - CLCN6(NM_001286.5):c.271A>G (p.(Thr91Ala)) - MTHFR_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13-334C>T r.(=) p.(=) Unknown - likely benign g.11863520G>A - MTHFR(NM_005957.4):c.-13-334C>T - MTHFR_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13-328A>G r.(=) p.(=) Unknown - VUS g.11863514T>C - MTHFR(NM_001330358.2):c.58A>G (p.(Ile20Val)) - MTHFR_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>A r.(?) p.(Ser21Asn) Unknown - association g.11863112C>T g.11803055C>T MTHFR c.62G>A, p.S21N - MTHFR_000110 risk factor PubMed: Peng 2016 - - Unknown ? 1/103 cases - - - DNA SEQ-NG, SEQ - next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study OFC ? PubMed: Peng 2016 - - - Taiwan Taiwanese - - - - 1 LOVD
-?/. - c.62G>A r.(?) p.(Ser21Asn) Unknown - likely benign g.11863112C>T - MTHFR(NM_005957.4):c.62G>A (p.(Ser21Asn)) - MTHFR_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74G>A r.(?) p.(Ser25Asn) Unknown - VUS g.11863100C>T - NM_005957:c.G74A (S25N) - MTHFR_000114 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0088 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.107G>T r.(?) p.(Gly36Val) Unknown - VUS g.11863067C>A - MTHFR(NM_005957.5):c.107G>T (p.G36V) - MTHFR_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117C>T r.(?) p.(Pro39=) Unknown - benign g.11863057G>A g.11803000G>A MTHFR(NM_005957.4):c.117C>T (p.P39=), MTHFR(NM_005957.5):c.117C>T (p.P39=) - MTHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117C>T r.(?) p.(Pro39=) Unknown - benign g.11863057G>A g.11803000G>A MTHFR(NM_005957.4):c.117C>T (p.P39=), MTHFR(NM_005957.5):c.117C>T (p.P39=) - MTHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117C>T r.(?) p.(Pro39=) Unknown - benign g.11863057G>A g.11803000G>A MTHFR(NM_005957.4):c.117C>T (p.P39=), MTHFR(NM_005957.5):c.117C>T (p.P39=) - MTHFR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136C>T r.(?) p.(Arg46Trp) Parent #1 - pathogenic g.11863038G>A g.11802981G>A - - MTHFR_000063 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138189536 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.136C>T r.(?) p.(Arg46Trp) Unknown - VUS g.11863038G>A - MTHFR(NM_005957.5):c.136C>T (p.R46W) - MTHFR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236+3A>G r.spl? p.? Unknown - VUS g.11862935T>C g.11802878T>C MTHFR(NM_005957.4):c.236+3A>G, MTHFR(NM_005957.5):c.236+3A>G - MTHFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236+3A>G r.spl? p.? Unknown - likely benign g.11862935T>C g.11802878T>C MTHFR(NM_005957.4):c.236+3A>G, MTHFR(NM_005957.5):c.236+3A>G - MTHFR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236+9A>C r.(=) p.(=) Unknown - likely benign g.11862929T>G - MTHFR(NM_001330358.1):c.359+9A>C - MTHFR_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244C>G r.(?) p.(Arg82Gly) Unknown - VUS g.11861449G>C - MTHFR(NM_001330358.1):c.367C>G (p.R123G) - MTHFR_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245G>A r.(?) p.(Arg82Gln) Unknown - VUS g.11861448C>T - MTHFR(NM_005957.5):c.245G>A (p.(Arg82Gln)) - MTHFR_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276C>T r.(?) p.(Asp92=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.330G>C r.(?) p.(Met110Ile) Unknown - VUS g.11861363C>G - MTHFR(NM_005957.5):c.330G>C (p.M110I) - MTHFR_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337G>T r.(?) p.(Ala113Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376C>T r.(?) p.(Leu126=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401G>T r.(?) p.(Arg134Leu) Unknown - likely benign g.11861292C>A g.11801235C>A MTHFR(NM_001330358.1):c.524G>T (p.R175L), MTHFR(NM_005957.5):c.401G>T (p.(Arg134Leu)) - MTHFR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.401G>T r.(?) p.(Arg134Leu) Unknown - VUS g.11861292C>A - MTHFR(NM_001330358.1):c.524G>T (p.R175L), MTHFR(NM_005957.5):c.401G>T (p.(Arg134Leu)) - MTHFR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.459C>G r.(?) p.(Ile153Met) Unknown - pathogenic g.11861234G>C g.11801177G>C MTHFR(NM_001330358.2):c.582C>G (p.I194M) - MTHFR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475+15C>T r.(=) p.(=) Unknown - benign g.11861203G>A g.11801146G>A MTHFR(NM_005957.4):c.475+15C>T - MTHFR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.476-79G>A r.(=) p.(=) Unknown - benign g.11860458C>T - MTHFR(NM_001330358.1):c.599-79G>A - MTHFR_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.476-76G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.476-56A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.534G>A r.(?) p.(Leu178=) Unknown - likely benign g.11860321C>T - MTHFR(NM_001330358.1):c.657G>A (p.L219=) - MTHFR_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.586+149A>G r.(=) p.(=) Unknown - benign g.11860120T>C - MTHFR(NM_001330358.1):c.709+149A>G - MTHFR_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.638A>G r.(?) p.(His213Arg) Unknown - likely benign g.11856405T>C - MTHFR(NM_005957.4):c.638A>G (p.H213R) - MTHFR_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.653T>C r.(?) p.(Val218Ala) Unknown - VUS g.11856390A>G g.11796333A>G MTHFR(NM_001330358.2):c.776T>C (p.V259A) - MTHFR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.654G>A r.(?) p.(Val218=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.665C>T r.(?) p.(Ala222Val) Unknown - VUS g.11856378G>A g.11796321G>A - - MTHFR_000023 for details see the Uveogene database PubMed: Ates 2012 - rs1801133 Germline - 151/636 cases - - - DNA arraySNP Blood - Behcet - PubMed: Ates 2012 Turkish cohort F;M - Turkey Turkish - - for details see the Uveogene database - 151 Peizeng Yang
+/. - c.665C>T r.(?) p.(Ala222Val) Unknown - pathogenic (!) g.11856378G>A g.11796321G>A 677C>T - MTHFR_000023 seggregates with hyperhomocysteinemia PubMed: Waheed 2012 - - Germline - - - - - DNA SEQ - - CSNB - PubMed: Waheed 2012 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.673A>G r.(?) p.(Ile225Val) Unknown - likely benign g.11856370T>C g.11796313T>C MTHFR(NM_001330358.1):c.796A>G (p.I266V), MTHFR(NM_005957.5):c.673A>G (p.I225V) - MTHFR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.673A>G r.(?) p.(Ile225Val) Unknown - VUS g.11856370T>C - MTHFR(NM_001330358.1):c.796A>G (p.I266V), MTHFR(NM_005957.5):c.673A>G (p.I225V) - MTHFR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Phe236=) Unknown - likely benign g.11856335G>A - MTHFR(NM_001330358.1):c.831C>T (p.F277=), MTHFR(NM_005957.4):c.708C>T (p.F236=) - MTHFR_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Phe236=) Unknown - likely benign g.11856335G>A - MTHFR(NM_001330358.1):c.831C>T (p.F277=), MTHFR(NM_005957.4):c.708C>T (p.F236=) - MTHFR_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.718G>A r.(?) p.(Val240Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732C>T r.(?) p.(Thr244=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733G>A r.(?) p.(Asp245Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.780+3G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797G>A r.(?) p.(Arg266Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.853G>A r.(?) p.(Glu285Lys) Unknown - VUS g.11855333C>T - MTHFR(NM_005957.5):c.853G>A (p.(Glu285Lys)) - MTHFR_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(Asn290=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(Asn290=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904G>A r.(?) p.(Ala302Thr) Unknown - VUS g.11855282C>T - MTHFR(NM_005957.4):c.904G>A (p.(Ala302Thr)) - MTHFR_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907G>A r.(?) p.(Val303Met) Unknown - VUS g.11855279C>T - MTHFR(NM_005957.4):c.907G>A (p.V303M) - MTHFR_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.961T>A r.(?) p.(Tyr321Asn) Unknown - likely pathogenic g.11855225A>T - MTHFR(NM_001330358.1):c.1084T>A (p.Y362N) - MTHFR_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1004G>A r.(?) p.(Arg335His) Unknown - VUS g.11855182C>T - MTHFR(NM_005957.4):c.1004G>A (p.R335H) - MTHFR_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1006C>A r.(?) p.(Leu336Met) Unknown - likely pathogenic g.11855180G>T g.11795123G>T - - MTHFR_000051 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.1011G>T r.(?) p.(=) Unknown - VUS g.11855175C>A - MTHFR(NM_005957.5):c.1011G>T (p.G337=) - MTHFR_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.