| NM_015506.3(MMACHC):c.126G>A (p.Pro42=) |
single nucleotide variant |
Cobalamin C disease [RCV000526858]|MMACHC-related disorder [RCV003905396]|Methylmalonic acidemia with homocystinuria cblC [RCV001273212]|not provided [RCV001701035]|not specified [RCV000601527] |
Chr1:45507400 [GRCh38]
Chr1:45973072 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000023785]|Disorders of Intracellular Cobalamin Metabolism [RCV002513204]|Methylmalonic acidemia with homocystinuria cblC [RCV001275215]|not provided [RCV000756343] |
Chr1:45508975 [GRCh38]
Chr1:45974647 [GRCh37]
Chr1:1p34.1 |
pathogenic|not provided |
| MMACHC, 3-BP DEL, 658AAG |
deletion |
Methylmalonic acidemia with homocystinuria [RCV000023786] |
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.271dup (p.Arg91fs) |
duplication |
Atypical hemolytic-uremic syndrome [RCV001328208]|Cobalamin C disease [RCV000001486]|Disorders of Intracellular Cobalamin Metabolism [RCV000308836]|Inborn genetic diseases [RCV004018537]|METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC [RCV000585799]|MMACHC-related disorder [RCV003421892]|Methylmalonic acidemia with homocystinuria cblC [RCV001273215]|See cases [RCV002251853]|not provided [RCV000081737]|not specified [RCV000507720] |
Chr1:45507544..45507545 [GRCh38]
Chr1:45973216..45973217 [GRCh37]
Chr1:1p34.1 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) |
single nucleotide variant |
Cobalamin C disease [RCV000001487]|Disorders of Intracellular Cobalamin Metabolism [RCV002512644] |
Chr1:45508282 [GRCh38]
Chr1:45973954 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|not provided |
| NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) |
single nucleotide variant |
Abnormality of metabolism/homeostasis [RCV001813934]|Cobalamin C disease [RCV000001488]|Disorders of Intracellular Cobalamin Metabolism [RCV002512645]|Methylmalonic acidemia with homocystinuria cblC [RCV001273221]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000721968]|cblC type of combined methylmalonic aciduria and homocystinuria [RCV001250251]|not provided [RCV000153508] |
Chr1:45508329 [GRCh38]
Chr1:45974001 [GRCh37]
Chr1:1p34.1 |
pathogenic|not provided |
| NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000001489]|Disorders of Intracellular Cobalamin Metabolism [RCV002512646]|MMACHC-related disorder [RCV004755697]|Methylmalonic acidemia with homocystinuria cblC [RCV001273220]|not provided [RCV000186026] |
Chr1:45508266 [GRCh38]
Chr1:45973938 [GRCh37]
Chr1:1p34.1 |
pathogenic|not provided |
| NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) |
single nucleotide variant |
Cobalamin C disease [RCV000001490]|Disorders of Intracellular Cobalamin Metabolism [RCV002512647]|Inborn genetic diseases [RCV000624532]|MMACHC-related disorder [RCV003894782]|Methylmalonic acidemia with homocystinuria cblC [RCV001273229]|Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [RCV000721969]|not provided [RCV000081740] |
Chr1:45508848 [GRCh38]
Chr1:45974520 [GRCh37]
Chr1:1p34.1 |
pathogenic|not provided |
| NM_015506.3(MMACHC):c.689G>C (p.Arg230Pro) |
single nucleotide variant |
not provided [RCV000723210] |
Chr1:45509055 [GRCh38]
Chr1:45974727 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.1(chr1:45402871-45603348)x3 |
copy number gain |
See cases [RCV000051494] |
Chr1:45402871..45603348 [GRCh38]
Chr1:45868543..46069020 [GRCh37]
Chr1:45641130..45841607 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3 |
copy number gain |
See cases [RCV000051078] |
Chr1:45440264..45869574 [GRCh38]
Chr1:45905936..46335246 [GRCh37]
Chr1:45678523..46107833 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] |
Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33 |
pathogenic |
| GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 |
copy number gain |
See cases [RCV000051803] |
Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.649G>T (p.Glu217Ter) |
single nucleotide variant |
not provided [RCV000087225] |
Chr1:45509015 [GRCh38]
Chr1:45974687 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.2(MMACHC):c.271dupA (p.Arg91Lysfs) |
duplication |
not provided [RCV000081737] |
Chr1:45507545 [GRCh38]
Chr1:45973217 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.321G>A (p.Val107=) |
single nucleotide variant |
Cobalamin C disease [RCV001513687]|Disorders of Intracellular Cobalamin Metabolism [RCV000264092]|not provided [RCV000589848]|not specified [RCV000081738] |
Chr1:45508256 [GRCh38]
Chr1:45973928 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000340205]|MMACHC-related disorder [RCV004755764]|Methylmalonic acidemia with homocystinuria cblC [RCV001273228]|not provided [RCV000081739] |
Chr1:45508847 [GRCh38]
Chr1:45974519 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.547_548del (p.Val183fs) |
microsatellite |
Cobalamin C disease [RCV000266579]|Methylmalonic acidemia with homocystinuria cblC [RCV001273230]|not provided [RCV000790832] |
Chr1:45508910..45508911 [GRCh38]
Chr1:45974582..45974583 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.603T>C (p.Arg201=) |
single nucleotide variant |
Cobalamin C disease [RCV000664730]|Methylmalonic acidemia with homocystinuria cblC [RCV001273235]|not provided [RCV000081742] |
Chr1:45508969 [GRCh38]
Chr1:45974641 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000383499]|Methylmalonic acidemia with homocystinuria cblC [RCV001275214]|not provided [RCV000790827] |
Chr1:45508974 [GRCh38]
Chr1:45974646 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.658_660del (p.Lys220del) |
deletion |
Cobalamin C disease [RCV000272939]|MMACHC-related disorder [RCV004755765]|Methylmalonic acidemia with homocystinuria cblC [RCV001275218]|not provided [RCV000081744] |
Chr1:45509022..45509024 [GRCh38]
Chr1:45974694..45974696 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.178G>C (p.Asp60His) |
single nucleotide variant |
Cobalamin C disease [RCV001080566]|Disorders of Intracellular Cobalamin Metabolism [RCV000362925]|not provided [RCV000224616]|not specified [RCV000126792] |
Chr1:45507452 [GRCh38]
Chr1:45973124 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.738C>T (p.Pro246=) |
single nucleotide variant |
Cobalamin C disease [RCV000529692]|Disorders of Intracellular Cobalamin Metabolism [RCV000295965]|not provided [RCV004714490]|not specified [RCV000126794] |
Chr1:45509104 [GRCh38]
Chr1:45974776 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) |
single nucleotide variant |
Cobalamin C disease [RCV000148298] |
Chr1:45507550 [GRCh38]
Chr1:45973222 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.276G>A (p.Glu92=) |
single nucleotide variant |
Cobalamin C disease [RCV000148299] |
Chr1:45507550 [GRCh38]
Chr1:45973222 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|not provided |
| NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) |
single nucleotide variant |
Cobalamin C disease [RCV000148300] |
Chr1:45508830 [GRCh38]
Chr1:45974502 [GRCh37]
Chr1:1p34.1 |
pathogenic|not provided |
| GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3 |
copy number gain |
See cases [RCV000134906] |
Chr1:44962358..45585262 [GRCh38]
Chr1:45428030..46050934 [GRCh37]
Chr1:45200617..45823521 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3 |
copy number gain |
See cases [RCV000137659] |
Chr1:45488251..46220805 [GRCh38]
Chr1:45953923..46686477 [GRCh37]
Chr1:45726510..46459064 [NCBI36]
Chr1:1p34.1 |
uncertain significance |
| GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3 |
copy number gain |
See cases [RCV000141255] |
Chr1:45469848..46220805 [GRCh38]
Chr1:45935520..46686477 [GRCh37]
Chr1:45708107..46459064 [NCBI36]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) |
single nucleotide variant |
Cobalamin C disease [RCV000552129]|Disorders of Intracellular Cobalamin Metabolism [RCV001099137]|Inborn genetic diseases [RCV002517826]|MMACHC-related disorder [RCV004755794]|Methylmalonic acidemia with homocystinuria cblC [RCV001277240]|Methylmalonic aciduria, type cblc [RCV003458351]|not provided [RCV000186023] |
Chr1:45507455 [GRCh38]
Chr1:45973127 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) |
single nucleotide variant |
Cobalamin C disease [RCV000552788]|Disorders of Intracellular Cobalamin Metabolism [RCV001099138]|Methylmalonic acidemia with homocystinuria cblC [RCV001273218]|not provided [RCV000415822]|not specified [RCV003230440] |
Chr1:45508251 [GRCh38]
Chr1:45973923 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) |
single nucleotide variant |
Cobalamin C disease [RCV000641156]|MMACHC-related disorder [RCV003977462]|Methylmalonic acidemia with homocystinuria cblC [RCV001277248]|not provided [RCV000178303]|not specified [RCV001844071] |
Chr1:45509214 [GRCh38]
Chr1:45974886 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000984195]|Methylmalonic acidemia with homocystinuria cblC [RCV001275220]|not provided [RCV000579162]|not specified [RCV003994027] |
Chr1:45509054 [GRCh38]
Chr1:45974726 [GRCh37]
Chr1:1p34.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.*1305C>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000264172] |
Chr1:45510520 [GRCh38]
Chr1:45976192 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.691T>C (p.Leu231=) |
single nucleotide variant |
Cobalamin C disease [RCV000873694]|Disorders of Intracellular Cobalamin Metabolism [RCV000385793]|Methylmalonic acidemia with homocystinuria cblC [RCV001275221] |
Chr1:45509057 [GRCh38]
Chr1:45974729 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.241C>T (p.Gln81Ter) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000394444] |
Chr1:45507515 [GRCh38]
Chr1:45973187 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) |
deletion |
Cobalamin C disease [RCV000190394]|Disorders of Intracellular Cobalamin Metabolism [RCV000351108]|MMACHC-related disorder [RCV004755801] |
Chr1:45509129..45509134 [GRCh38]
Chr1:45974801..45974806 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Cobalamin C disease [RCV000664762]|Methylmalonic acidemia with homocystinuria cblC [RCV001272216] |
Chr1:45500335 [GRCh38]
Chr1:45966007 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000671572]|Methylmalonic acidemia with homocystinuria cblC [RCV001273214]|not provided [RCV000186024] |
Chr1:45507491 [GRCh38]
Chr1:45973163 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000190393] |
Chr1:45508355 [GRCh38]
Chr1:45974027 [GRCh37]
Chr1:1p34.1 |
pathogenic|not provided |
| NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) |
single nucleotide variant |
Cobalamin C disease [RCV000576585]|Disorders of Intracellular Cobalamin Metabolism [RCV000262040]|Homocystinuria [RCV001027895]|Inborn genetic diseases [RCV002517827]|MMACHC-related disorder [RCV004755795]|Methylmalonic acidemia with homocystinuria cblC [RCV001273224]|not provided [RCV000186028] |
Chr1:45508806 [GRCh38]
Chr1:45974478 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) |
single nucleotide variant |
Cobalamin C disease [RCV000586798]|Methylmalonic acidemia with homocystinuria cblC [RCV001273223]|not provided [RCV000186029] |
Chr1:45508806 [GRCh38]
Chr1:45974478 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) |
single nucleotide variant |
Cobalamin C disease [RCV000664859]|Disorders of Intracellular Cobalamin Metabolism [RCV001101235]|Inborn genetic diseases [RCV002513959]|See cases [RCV002252032]|not provided [RCV001573125]|not specified [RCV001804923] |
Chr1:45508838 [GRCh38]
Chr1:45974510 [GRCh37]
Chr1:1p34.1 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001946440] |
Chr1:45508966 [GRCh38]
Chr1:45974638 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) |
single nucleotide variant |
Cobalamin C disease [RCV000490478] |
Chr1:45508982 [GRCh38]
Chr1:45974654 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) |
microsatellite |
Cobalamin C disease [RCV000641155]|MMACHC-related disorder [RCV003407684]|not provided [RCV000186033] |
Chr1:45508317..45508319 [GRCh38]
Chr1:45973989..45973991 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) |
microsatellite |
Cobalamin C disease [RCV001004153]|Methylmalonic acidemia with homocystinuria cblC [RCV001273222]|not provided [RCV000186034] |
Chr1:45508806..45508807 [GRCh38]
Chr1:45974478..45974479 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) |
deletion |
Cobalamin C disease [RCV000531346]|Methylmalonic acidemia with homocystinuria cblC [RCV001273219]|not provided [RCV000186035] |
Chr1:45508261..45508264 [GRCh38]
Chr1:45973933..45973936 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) |
single nucleotide variant |
Cobalamin C disease [RCV000504286]|Disorders of Intracellular Cobalamin Metabolism [RCV000260401]|MMACHC-related disorder [RCV003417958]|Retinal dystrophy [RCV001074563]|not provided [RCV001582921] |
Chr1:45508324 [GRCh38]
Chr1:45973996 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000267790]|Methylmalonic acidemia with homocystinuria cblC [RCV001275217]|not provided [RCV000723444] |
Chr1:45508981 [GRCh38]
Chr1:45974653 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) |
single nucleotide variant |
Cobalamin C disease [RCV000876964]|Disorders of Intracellular Cobalamin Metabolism [RCV000382334]|MMACHC-related disorder [RCV003967842]|Methylmalonic acidemia with homocystinuria cblC [RCV001277247]|not provided [RCV001782782] |
Chr1:45509165 [GRCh38]
Chr1:45974837 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) |
single nucleotide variant |
Cobalamin C disease [RCV000874747]|Disorders of Intracellular Cobalamin Metabolism [RCV000374944]|MMACHC-related disorder [RCV003967841]|Methylmalonic acidemia with homocystinuria cblC [RCV001277243]|not provided [RCV001565856]|not specified [RCV003987500] |
Chr1:45508799 [GRCh38]
Chr1:45974471 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_015506.3(MMACHC):c.277-4C>G |
single nucleotide variant |
Cobalamin C disease [RCV000870611]|Disorders of Intracellular Cobalamin Metabolism [RCV000358926]|Inborn genetic diseases [RCV002522132]|Methylmalonic acidemia with homocystinuria cblC [RCV001273216]|not specified [RCV000432843] |
Chr1:45508208 [GRCh38]
Chr1:45973880 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) |
single nucleotide variant |
Cobalamin C disease [RCV002520496]|Disorders of Intracellular Cobalamin Metabolism [RCV000359909] |
Chr1:45508269 [GRCh38]
Chr1:45973941 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.288G>A (p.Glu96=) |
single nucleotide variant |
Cobalamin C disease [RCV002189253] |
Chr1:45508223 [GRCh38]
Chr1:45973895 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) |
single nucleotide variant |
Cobalamin C disease [RCV001035738]|Disorders of Intracellular Cobalamin Metabolism [RCV000331253]|Methylmalonic acidemia with homocystinuria cblC [RCV001273231] |
Chr1:45508911 [GRCh38]
Chr1:45974583 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) |
single nucleotide variant |
Cobalamin C disease [RCV000872420]|Disorders of Intracellular Cobalamin Metabolism [RCV000323956]|not provided [RCV003480584]|not specified [RCV002271488] |
Chr1:45508261 [GRCh38]
Chr1:45973933 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.*1585G>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000279442]|not provided [RCV004714779] |
Chr1:45510800 [GRCh38]
Chr1:45976472 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*1700A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000280469]|not provided [RCV004713686] |
Chr1:45510915 [GRCh38]
Chr1:45976587 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*1212G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000269630] |
Chr1:45510427 [GRCh38]
Chr1:45976099 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p34.1(chr1:45953923-46126722)x3 |
copy number gain |
See cases [RCV000240537] |
Chr1:45953923..46126722 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*310G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000269892] |
Chr1:45509525 [GRCh38]
Chr1:45975197 [GRCh37]
Chr1:1p34.1 |
benign|uncertain significance |
| NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) |
single nucleotide variant |
Cobalamin C disease [RCV001518858]|Disorders of Intracellular Cobalamin Metabolism [RCV000287880]|not provided [RCV001541052]|not specified [RCV000245390] |
Chr1:45509177 [GRCh38]
Chr1:45974849 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.*185A>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000298771] |
Chr1:45509400 [GRCh38]
Chr1:45975072 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1144A>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000313969]|not provided [RCV004710788] |
Chr1:45510359 [GRCh38]
Chr1:45976031 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.*269A>G |
single nucleotide variant |
Cobalamin C disease [RCV001828288]|Disorders of Intracellular Cobalamin Metabolism [RCV000333265]|not provided [RCV001553189] |
Chr1:45509484 [GRCh38]
Chr1:45975156 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.2(MMACHC):c.-94A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000352394] |
Chr1:45500239 [GRCh38]
Chr1:45965911 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*82A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000302156] |
Chr1:45509297 [GRCh38]
Chr1:45974969 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1376_*1377insT |
insertion |
Disorders of Intracellular Cobalamin Metabolism [RCV000378508] |
Chr1:45510591..45510592 [GRCh38]
Chr1:45976263..45976264 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*730C>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000287184] |
Chr1:45509945 [GRCh38]
Chr1:45975617 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*818C>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000403601] |
Chr1:45510033 [GRCh38]
Chr1:45975705 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.2(MMACHC):c.-148T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000404125] |
Chr1:45500185 [GRCh38]
Chr1:45965857 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*450G>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000289885] |
Chr1:45509665 [GRCh38]
Chr1:45975337 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1714A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000405366] |
Chr1:45510929 [GRCh38]
Chr1:45976601 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*413G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000384248]|not provided [RCV004713682] |
Chr1:45509628 [GRCh38]
Chr1:45975300 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.*84G>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000343113] |
Chr1:45509299 [GRCh38]
Chr1:45974971 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.-123A>T |
single nucleotide variant |
Cobalamin C disease [RCV002480079]|Disorders of Intracellular Cobalamin Metabolism [RCV000292847] |
Chr1:45500210 [GRCh38]
Chr1:45965882 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) |
single nucleotide variant |
Cobalamin C disease [RCV002520495]|Disorders of Intracellular Cobalamin Metabolism [RCV000308210]|Inborn genetic diseases [RCV002522131]|not provided [RCV001700037]|not specified [RCV003387828] |
Chr1:45500399 [GRCh38]
Chr1:45966071 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1362G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000324044]|not provided [RCV004713685] |
Chr1:45510577 [GRCh38]
Chr1:45976249 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.*279A>G |
single nucleotide variant |
Cobalamin C disease [RCV001833424]|Disorders of Intracellular Cobalamin Metabolism [RCV000387796]|not provided [RCV001541339] |
Chr1:45509494 [GRCh38]
Chr1:45975166 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*1260G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000365287]|not provided [RCV004713684] |
Chr1:45510475 [GRCh38]
Chr1:45976147 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*5C>G |
single nucleotide variant |
Cobalamin C disease [RCV000668640]|Disorders of Intracellular Cobalamin Metabolism [RCV000347541] |
Chr1:45509220 [GRCh38]
Chr1:45974892 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.-25G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000394466] |
Chr1:45500308 [GRCh38]
Chr1:45965980 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*853CT[1] |
microsatellite |
Disorders of Intracellular Cobalamin Metabolism [RCV000297985] |
Chr1:45510068..45510069 [GRCh38]
Chr1:45975740..45975741 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*969C>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000312714]|not provided [RCV004713683] |
Chr1:45510184 [GRCh38]
Chr1:45975856 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*962C>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000395491] |
Chr1:45510177 [GRCh38]
Chr1:45975849 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*169G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000395749] |
Chr1:45509384 [GRCh38]
Chr1:45975056 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*201_*202insATTTT |
insertion |
Disorders of Intracellular Cobalamin Metabolism [RCV000263112] |
Chr1:45509416..45509417 [GRCh38]
Chr1:45975088..45975089 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) |
single nucleotide variant |
Cobalamin C disease [RCV001239464]|Inborn genetic diseases [RCV004021247]|not provided [RCV000372673] |
Chr1:45509049 [GRCh38]
Chr1:45974721 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.165G>A (p.Thr55=) |
single nucleotide variant |
Cobalamin C disease [RCV001450797]|not specified [RCV000343048] |
Chr1:45507439 [GRCh38]
Chr1:45973111 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.*259CA[1] |
microsatellite |
Disorders of Intracellular Cobalamin Metabolism [RCV000273624] |
Chr1:45509474..45509475 [GRCh38]
Chr1:45975146..45975147 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*217_*218insTTTTA |
insertion |
Disorders of Intracellular Cobalamin Metabolism [RCV000368169] |
Chr1:45509432..45509433 [GRCh38]
Chr1:45975104..45975105 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1239G>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000329330] |
Chr1:45510454 [GRCh38]
Chr1:45976126 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1601G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000315652] |
Chr1:45510816 [GRCh38]
Chr1:45976488 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) |
single nucleotide variant |
Cobalamin C disease [RCV000668614]|Disorders of Intracellular Cobalamin Metabolism [RCV000315733] |
Chr1:45508338 [GRCh38]
Chr1:45974010 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1154CT[1] |
microsatellite |
Disorders of Intracellular Cobalamin Metabolism [RCV000363974] |
Chr1:45510369..45510372 [GRCh38]
Chr1:45976041..45976044 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1701T>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000349513] |
Chr1:45510916 [GRCh38]
Chr1:45976588 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1000A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000367360] |
Chr1:45510215 [GRCh38]
Chr1:45975887 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*860del |
deletion |
Disorders of Intracellular Cobalamin Metabolism [RCV000338825] |
Chr1:45510075 [GRCh38]
Chr1:45975747 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*200A>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000353681] |
Chr1:45509415 [GRCh38]
Chr1:45975087 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*201G>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000299487]|not provided [RCV004691217] |
Chr1:45509416 [GRCh38]
Chr1:45975088 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*345C>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000324919] |
Chr1:45509560 [GRCh38]
Chr1:45975232 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1646_*1647del |
deletion |
Disorders of Intracellular Cobalamin Metabolism [RCV000374873] |
Chr1:45510861..45510862 [GRCh38]
Chr1:45976533..45976534 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*538GTT[1] |
microsatellite |
Disorders of Intracellular Cobalamin Metabolism [RCV000341074] |
Chr1:45509752..45509754 [GRCh38]
Chr1:45975424..45975426 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*740T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000342121] |
Chr1:45509955 [GRCh38]
Chr1:45975627 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*677A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000377082] |
Chr1:45509892 [GRCh38]
Chr1:45975564 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1101G>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000395508] |
Chr1:45510316 [GRCh38]
Chr1:45975988 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*11T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000395740] |
Chr1:45509226 [GRCh38]
Chr1:45974898 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001210411]|not provided [RCV000591994] |
Chr1:45508227 [GRCh38]
Chr1:45973899 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.641G>A (p.Arg214His) |
single nucleotide variant |
Cobalamin C disease [RCV001277246]|Disorders of Intracellular Cobalamin Metabolism [RCV001101238]|not provided [RCV000588709] |
Chr1:45509007 [GRCh38]
Chr1:45974679 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) |
single nucleotide variant |
Cobalamin C disease [RCV002530940]|not provided [RCV000587167] |
Chr1:45509210 [GRCh38]
Chr1:45974882 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.81G>A (p.Gln27=) AND METHYLMALONIC ACIDURIA |
single nucleotide variant |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC [RCV000585803] |
Chr1:45500413 [GRCh38]
Chr1:45966085 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) |
single nucleotide variant |
Cobalamin C disease [RCV002558001]|Disorders of Intracellular Cobalamin Metabolism [RCV001099236]|Inborn genetic diseases [RCV004032047]|Methylmalonic acidemia with homocystinuria cblC [RCV001277589] |
Chr1:45508264 [GRCh38]
Chr1:45973936 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.355A>G (p.Thr119Ala) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099237] |
Chr1:45508290 [GRCh38]
Chr1:45973962 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*402T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099346] |
Chr1:45509617 [GRCh38]
Chr1:45975289 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*467G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099348] |
Chr1:45509682 [GRCh38]
Chr1:45975354 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*624T>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099349] |
Chr1:45509839 [GRCh38]
Chr1:45975511 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) |
single nucleotide variant |
Cobalamin C disease [RCV003465319]|METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC [RCV000585794]|not specified [RCV003323623] |
Chr1:45507432 [GRCh38]
Chr1:45973104 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_015506.3(MMACHC):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099136] |
Chr1:45500391 [GRCh38]
Chr1:45966063 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.82-11_82-8del |
deletion |
Cobalamin C disease [RCV000505601] |
Chr1:45507343..45507346 [GRCh38]
Chr1:45973015..45973018 [GRCh37]
Chr1:1p34.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.*20T>C |
single nucleotide variant |
not specified [RCV000442097] |
Chr1:45509235 [GRCh38]
Chr1:45974907 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) |
single nucleotide variant |
Cobalamin C disease [RCV000670026]|Inborn genetic diseases [RCV002524774]|Methylmalonic acidemia with homocystinuria cblC [RCV001275225]|not provided [RCV001703465]|not specified [RCV003987527] |
Chr1:45509166 [GRCh38]
Chr1:45974838 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.276+17T>A |
single nucleotide variant |
Cobalamin C disease [RCV002059773]|not provided [RCV001704407] |
Chr1:45507567 [GRCh38]
Chr1:45973239 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.699A>G (p.Leu233=) |
single nucleotide variant |
Cobalamin C disease [RCV000877493]|not specified [RCV000433188] |
Chr1:45509065 [GRCh38]
Chr1:45974737 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) |
single nucleotide variant |
Cobalamin C disease [RCV001833515]|Inborn genetic diseases [RCV002524741]|not provided [RCV000434552] |
Chr1:45508330 [GRCh38]
Chr1:45974002 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.1A>G (p.Met1Val) |
single nucleotide variant |
Cobalamin C disease [RCV000666093]|Methylmalonic acidemia with homocystinuria cblC [RCV001272215]|not provided [RCV000440436] |
Chr1:45500333 [GRCh38]
Chr1:45966005 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 |
copy number loss |
See cases [RCV000448358] |
Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3 |
likely pathogenic |
| NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) |
duplication |
Cobalamin C disease [RCV000477768] |
Chr1:45507542..45507543 [GRCh38]
Chr1:45973214..45973215 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.566G>A (p.Arg189His) |
single nucleotide variant |
Cobalamin C disease [RCV000477781] |
Chr1:45508932 [GRCh38]
Chr1:45974604 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) |
single nucleotide variant |
Cobalamin C disease [RCV001834577]|not provided [RCV000732513] |
Chr1:45509016 [GRCh38]
Chr1:45974688 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3 |
copy number gain |
See cases [RCV000510158] |
Chr1:45715667..46501705 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.352del (p.Gln118fs) |
deletion |
Cobalamin C disease [RCV000641152]|not provided [RCV000627427]|not specified [RCV000506122] |
Chr1:45508285 [GRCh38]
Chr1:45973957 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.276+214dup |
duplication |
not provided [RCV001644567] |
Chr1:45507763..45507764 [GRCh38]
Chr1:45973435..45973436 [GRCh37]
Chr1:1p34.1 |
benign |
| Single allele |
variation |
not specified [RCV000507720] |
Chr1:45973217..45973218 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) |
single nucleotide variant |
Cobalamin C disease [RCV000555947]|Inborn genetic diseases [RCV003258864]|not provided [RCV001508862] |
Chr1:45509016 [GRCh38]
Chr1:45974688 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.495G>A (p.Leu165=) |
single nucleotide variant |
Cobalamin C disease [RCV000952225]|Disorders of Intracellular Cobalamin Metabolism [RCV001101236]|not specified [RCV000607234] |
Chr1:45508861 [GRCh38]
Chr1:45974533 [GRCh37]
Chr1:1p34.1 |
benign|likely benign |
| NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000590695]|Methylmalonic acidemia with homocystinuria cblC [RCV001275219]|not provided [RCV002473068] |
Chr1:45509032 [GRCh38]
Chr1:45974704 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000664503] |
Chr1:45508326 [GRCh38]
Chr1:45973998 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000665310]|Methylmalonic acidemia with homocystinuria cblC [RCV001273225]|not provided [RCV002284422] |
Chr1:45508823 [GRCh38]
Chr1:45974495 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.277-8_277-3dup |
duplication |
Cobalamin C disease [RCV000666597] |
Chr1:45508202..45508203 [GRCh38]
Chr1:45973874..45973875 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.395_397del (p.Arg132del) |
deletion |
Cobalamin C disease [RCV000667767] |
Chr1:45508328..45508330 [GRCh38]
Chr1:45974000..45974002 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000669100] |
Chr1:45500404 [GRCh38]
Chr1:45966076 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.840del (p.Gly281fs) |
deletion |
Cobalamin C disease [RCV000670097] |
Chr1:45509206 [GRCh38]
Chr1:45974878 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.364C>A (p.His122Asn) |
single nucleotide variant |
Cobalamin C disease [RCV000673415]|not specified [RCV004689848] |
Chr1:45508299 [GRCh38]
Chr1:45973971 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) |
single nucleotide variant |
Cobalamin C disease [RCV000641153]|See cases [RCV002252187] |
Chr1:45507456 [GRCh38]
Chr1:45973128 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) |
single nucleotide variant |
Cobalamin C disease [RCV000665683] |
Chr1:45509215 [GRCh38]
Chr1:45974887 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) |
deletion |
Cobalamin C disease [RCV000669122] |
Chr1:45508243..45508246 [GRCh38]
Chr1:45973915..45973918 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000669305] |
Chr1:45508250 [GRCh38]
Chr1:45973922 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) |
deletion |
Cobalamin C disease [RCV000669321] |
Chr1:45508333..45508334 [GRCh38]
Chr1:45974005..45974006 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) |
microsatellite |
Cobalamin C disease [RCV000670891] |
Chr1:45508857..45508859 [GRCh38]
Chr1:45974529..45974531 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.839del (p.Pro280fs) |
deletion |
Cobalamin C disease [RCV000671373] |
Chr1:45509202 [GRCh38]
Chr1:45974874 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.82-1G>A |
single nucleotide variant |
Cobalamin C disease [RCV000672739] |
Chr1:45507355 [GRCh38]
Chr1:45973027 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.81+2T>G |
single nucleotide variant |
Cobalamin C disease [RCV000672964] |
Chr1:45500415 [GRCh38]
Chr1:45966087 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) |
deletion |
Cobalamin C disease [RCV000674810] |
Chr1:45508925..45508936 [GRCh38]
Chr1:45974597..45974608 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.668T>C (p.Phe223Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003290552] |
Chr1:45509034 [GRCh38]
Chr1:45974706 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.477C>T (p.Ala159=) |
single nucleotide variant |
Cobalamin C disease [RCV001496602]|Methylmalonic acidemia with homocystinuria cblC [RCV001273227]|not specified [RCV000608706] |
Chr1:45508843 [GRCh38]
Chr1:45974515 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.157C>G (p.Leu53Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003295343] |
Chr1:45507431 [GRCh38]
Chr1:45973103 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.33G>T (p.Lys11Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003277098] |
Chr1:45500365 [GRCh38]
Chr1:45966037 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.626_627del (p.Val209fs) |
microsatellite |
Cobalamin C disease [RCV000664669] |
Chr1:45508990..45508991 [GRCh38]
Chr1:45974662..45974663 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.701del (p.Leu234fs) |
deletion |
Cobalamin C disease [RCV000665427] |
Chr1:45509066 [GRCh38]
Chr1:45974738 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) |
single nucleotide variant |
Cobalamin C disease [RCV000666281] |
Chr1:45508910 [GRCh38]
Chr1:45974582 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000669370] |
Chr1:45508837 [GRCh38]
Chr1:45974509 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.392_394del (p.Gln131del) |
deletion |
Cobalamin C disease [RCV000669734] |
Chr1:45508326..45508328 [GRCh38]
Chr1:45973998..45974000 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) |
deletion |
Cobalamin C disease [RCV000670268] |
Chr1:45509212..45509215 [GRCh38]
Chr1:45974884..45974887 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) |
single nucleotide variant |
Cobalamin C disease [RCV000670372] |
Chr1:45508833 [GRCh38]
Chr1:45974505 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) |
microsatellite |
Cobalamin C disease [RCV000672078] |
Chr1:45507545..45507548 [GRCh38]
Chr1:45973217..45973220 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Cobalamin C disease [RCV000673566] |
Chr1:45500334 [GRCh38]
Chr1:45966006 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) |
single nucleotide variant |
Cobalamin C disease [RCV001829506]|not provided [RCV000519990] |
Chr1:45508246 [GRCh38]
Chr1:45973918 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) |
single nucleotide variant |
Cobalamin C disease [RCV000641154] |
Chr1:45508812 [GRCh38]
Chr1:45974484 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.771dup (p.Lys258fs) |
duplication |
Cobalamin C disease [RCV000667683] |
Chr1:45509132..45509133 [GRCh38]
Chr1:45974804..45974805 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) |
single nucleotide variant |
Cobalamin C disease [RCV000667730]|Methylmalonic acidemia with homocystinuria cblC [RCV001272218] |
Chr1:45500412 [GRCh38]
Chr1:45966084 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000671638] |
Chr1:45507364 [GRCh38]
Chr1:45973036 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) |
deletion |
Cobalamin C disease [RCV000672413] |
Chr1:45508305..45508313 [GRCh38]
Chr1:45973977..45973985 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.567dup (p.Ile190fs) |
duplication |
Cobalamin C disease [RCV000672749]|Methylmalonic acidemia with homocystinuria cblC [RCV001273233]|not provided [RCV004702303] |
Chr1:45508932..45508933 [GRCh38]
Chr1:45974604..45974605 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.799dup (p.Arg267fs) |
duplication |
Cobalamin C disease [RCV000673433]|not provided [RCV001771922] |
Chr1:45509162..45509163 [GRCh38]
Chr1:45974834..45974835 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000674536]|Methylmalonic acidemia with homocystinuria cblC [RCV001275216] |
Chr1:45508981 [GRCh38]
Chr1:45974653 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) |
single nucleotide variant |
Cobalamin C disease [RCV000699750] |
Chr1:45508938 [GRCh38]
Chr1:45974610 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.728del (p.Pro243fs) |
deletion |
Cobalamin C disease [RCV000665918] |
Chr1:45509093 [GRCh38]
Chr1:45974765 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) |
single nucleotide variant |
Cobalamin C disease [RCV000667746] |
Chr1:45508284 [GRCh38]
Chr1:45973956 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.565del (p.Arg189fs) |
deletion |
Cobalamin C disease [RCV000668639] |
Chr1:45508930 [GRCh38]
Chr1:45974602 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.500del (p.Pro167fs) |
deletion |
Cobalamin C disease [RCV000668801] |
Chr1:45508865 [GRCh38]
Chr1:45974537 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) |
single nucleotide variant |
Cobalamin C disease [RCV000669635]|Disorders of Intracellular Cobalamin Metabolism [RCV001097484]|Methylmalonic acidemia with homocystinuria cblC [RCV001275226]|not provided [RCV000729719]|not specified [RCV000780428] |
Chr1:45509214 [GRCh38]
Chr1:45974886 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) |
deletion |
Cobalamin C disease [RCV000671439] |
Chr1:45508906..45508913 [GRCh38]
Chr1:45974578..45974585 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) |
deletion |
Cobalamin C disease [RCV000672192] |
Chr1:45509215 [GRCh38]
Chr1:45974887 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.285dup (p.Glu96fs) |
duplication |
Cobalamin C disease [RCV000674067]|Methylmalonic acidemia with homocystinuria cblC [RCV001273217] |
Chr1:45508219..45508220 [GRCh38]
Chr1:45973891..45973892 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) |
single nucleotide variant |
Cobalamin C disease [RCV000674933] |
Chr1:45508362 [GRCh38]
Chr1:45974034 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| GRCh37/hg19 1p34.1(chr1:45923445-46017520)x1 |
copy number loss |
not provided [RCV000681440] |
Chr1:45923445..46017520 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) |
deletion |
Cobalamin C disease [RCV000665556] |
Chr1:45508797..45508811 [GRCh38]
Chr1:45974469..45974483 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.745dup (p.Asp249fs) |
duplication |
Cobalamin C disease [RCV000672531] |
Chr1:45509109..45509110 [GRCh38]
Chr1:45974781..45974782 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.497dup (p.Pro167fs) |
duplication |
Cobalamin C disease [RCV000672551] |
Chr1:45508862..45508863 [GRCh38]
Chr1:45974534..45974535 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) |
single nucleotide variant |
Cobalamin C disease [RCV000674571] |
Chr1:45508983 [GRCh38]
Chr1:45974655 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) |
single nucleotide variant |
Cobalamin C disease [RCV000674997]|Methylmalonic acidemia with homocystinuria cblC [RCV001273232]|not provided [RCV004702309] |
Chr1:45508931 [GRCh38]
Chr1:45974603 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) |
deletion |
Cobalamin C disease [RCV000666710] |
Chr1:45509214 [GRCh38]
Chr1:45974886 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.619dup (p.Asp207fs) |
duplication |
Cobalamin C disease [RCV000668405]|not provided [RCV001008757] |
Chr1:45508982..45508983 [GRCh38]
Chr1:45974654..45974655 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) |
deletion |
Cobalamin C disease [RCV000671954] |
Chr1:45508870..45508882 [GRCh38]
Chr1:45974542..45974554 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Cobalamin C disease [RCV000672157] |
Chr1:45500334 [GRCh38]
Chr1:45966006 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.574del (p.Leu192fs) |
deletion |
Cobalamin C disease [RCV000672361] |
Chr1:45508938 [GRCh38]
Chr1:45974610 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.384del (p.Tyr129fs) |
deletion |
Cobalamin C disease [RCV000674328] |
Chr1:45508319 [GRCh38]
Chr1:45973991 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) |
single nucleotide variant |
Cobalamin C disease [RCV000706068]|Methylmalonic acidemia with homocystinuria cblC [RCV001277245]|not provided [RCV002221579] |
Chr1:45508914 [GRCh38]
Chr1:45974586 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) |
single nucleotide variant |
Cobalamin C disease [RCV000685675] |
Chr1:45507362 [GRCh38]
Chr1:45973034 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) |
single nucleotide variant |
Cobalamin C disease [RCV000706168]|MMACHC-related disorder [RCV003928175] |
Chr1:45500372 [GRCh38]
Chr1:45966044 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p34.1(chr1:45819489-46245645)x3 |
copy number gain |
not provided [RCV000748974] |
Chr1:45819489..46245645 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) |
single nucleotide variant |
Cobalamin C disease [RCV001004152] |
Chr1:45508323 [GRCh38]
Chr1:45973995 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NC_000001.11:g.(?_45507336)_(45509235_?)dup |
duplication |
Cobalamin C disease [RCV001032447] |
Chr1:45973008..45974907 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.429+1G>C |
single nucleotide variant |
Cobalamin C disease [RCV001064646] |
Chr1:45508365 [GRCh38]
Chr1:45974037 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys) |
single nucleotide variant |
Cobalamin C disease [RCV001055273] |
Chr1:45508341 [GRCh38]
Chr1:45974013 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*211_*217dup |
duplication |
not provided [RCV001549795] |
Chr1:45509416..45509417 [GRCh38]
Chr1:45975088..45975089 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.423G>C (p.Gly141=) |
single nucleotide variant |
Cobalamin C disease [RCV001403780] |
Chr1:45508358 [GRCh38]
Chr1:45974030 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.114C>T (p.Ala38=) |
single nucleotide variant |
Cobalamin C disease [RCV001446231] |
Chr1:45507388 [GRCh38]
Chr1:45973060 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-4C>A |
single nucleotide variant |
Cobalamin C disease [RCV001449317] |
Chr1:45508208 [GRCh38]
Chr1:45973880 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.798C>T (p.Ala266=) |
single nucleotide variant |
Cobalamin C disease [RCV000945711]|not provided [RCV004711439] |
Chr1:45509164 [GRCh38]
Chr1:45974836 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.282C>T (p.Leu94=) |
single nucleotide variant |
Cobalamin C disease [RCV000983335]|Methylmalonic acidemia with homocystinuria cblC [RCV001277241] |
Chr1:45508217 [GRCh38]
Chr1:45973889 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.33G>A (p.Lys11=) |
single nucleotide variant |
Cobalamin C disease [RCV000982948] |
Chr1:45500365 [GRCh38]
Chr1:45966037 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.364dup (p.His122fs) |
duplication |
Cobalamin C disease [RCV000782135] |
Chr1:45508296..45508297 [GRCh38]
Chr1:45973968..45973969 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) |
single nucleotide variant |
Cobalamin C disease [RCV001825538]|not specified [RCV000781545] |
Chr1:45507504 [GRCh38]
Chr1:45973176 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.651A>G (p.Glu217=) |
single nucleotide variant |
Cobalamin C disease [RCV000876224] |
Chr1:45509017 [GRCh38]
Chr1:45974689 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.765C>T (p.Pro255=) |
single nucleotide variant |
Cobalamin C disease [RCV000873117]|Methylmalonic acidemia with homocystinuria cblC [RCV001275224] |
Chr1:45509131 [GRCh38]
Chr1:45974803 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.700T>C (p.Leu234=) |
single nucleotide variant |
Cobalamin C disease [RCV000933153]|Methylmalonic acidemia with homocystinuria cblC [RCV001275223] |
Chr1:45509066 [GRCh38]
Chr1:45974738 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) |
single nucleotide variant |
Cobalamin C disease [RCV000876963]|Disorders of Intracellular Cobalamin Metabolism [RCV001099239]|MMACHC-related disorder [RCV003955752]|Methylmalonic acidemia with homocystinuria cblC [RCV001277244] |
Chr1:45508824 [GRCh38]
Chr1:45974496 [GRCh37]
Chr1:1p34.1 |
benign|likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.783G>A (p.Gly261=) |
single nucleotide variant |
Cobalamin C disease [RCV000924245]|not provided [RCV001815459] |
Chr1:45509149 [GRCh38]
Chr1:45974821 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.822C>A (p.Val274=) |
single nucleotide variant |
Cobalamin C disease [RCV001493539] |
Chr1:45509188 [GRCh38]
Chr1:45974860 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.696C>T (p.Ala232=) |
single nucleotide variant |
Cobalamin C disease [RCV000937918]|Methylmalonic acidemia with homocystinuria cblC [RCV001275222] |
Chr1:45509062 [GRCh38]
Chr1:45974734 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_181697.3(PRDX1):c.515-2A>T AND METHYLMALONIC ACIDURIA |
single nucleotide variant |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC [RCV000585793] |
Chr1:45511416 [GRCh38]
Chr1:45977088 [GRCh37]
Chr1:1p34.1 |
pathogenic|association |
| NM_015506.3(MMACHC):c.488T>C (p.Val163Ala) |
single nucleotide variant |
Cobalamin C disease [RCV000812705] |
Chr1:45508854 [GRCh38]
Chr1:45974526 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.2(MMACHC):c.-302G>T |
single nucleotide variant |
not provided [RCV000844586] |
Chr1:45500031 [GRCh38]
Chr1:45965703 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_181697.3(PRDX1):c.515-1G>T |
single nucleotide variant |
Cobalamin C disease [RCV003451324]|METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC [RCV000585802]|not provided [RCV001815417] |
Chr1:45511415 [GRCh38]
Chr1:45977087 [GRCh37]
Chr1:1p34.1 |
pathogenic|association |
| NM_015506.3(MMACHC):c.*1542T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001097682] |
Chr1:45510757 [GRCh38]
Chr1:45976429 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1241G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001095903] |
Chr1:45510456 [GRCh38]
Chr1:45976128 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) |
single nucleotide variant |
Cobalamin C disease [RCV001784641]|not provided [RCV001091842] |
Chr1:45508837 [GRCh38]
Chr1:45974509 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del) |
deletion |
Cobalamin C disease [RCV001035212] |
Chr1:45508284..45508295 [GRCh38]
Chr1:45973956..45973967 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.11:g.(?_45507336)_(45509235_?)del |
deletion |
Cobalamin C disease [RCV001032800] |
Chr1:45973008..45974907 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) |
single nucleotide variant |
Cobalamin C disease [RCV001250055] |
Chr1:45500351 [GRCh38]
Chr1:45966023 [GRCh37]
Chr1:1p34.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) |
single nucleotide variant |
Cobalamin C disease [RCV001242900]|not provided [RCV003481022] |
Chr1:45509136 [GRCh38]
Chr1:45974808 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro) |
single nucleotide variant |
Cobalamin C disease [RCV001220579] |
Chr1:45509099 [GRCh38]
Chr1:45974771 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr) |
single nucleotide variant |
Cobalamin C disease [RCV001221525] |
Chr1:45508872 [GRCh38]
Chr1:45974544 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.319G>A (p.Val107Met) |
single nucleotide variant |
Cobalamin C disease [RCV001238761] |
Chr1:45508254 [GRCh38]
Chr1:45973926 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala) |
single nucleotide variant |
Cobalamin C disease [RCV002558017]|Disorders of Intracellular Cobalamin Metabolism [RCV001101239] |
Chr1:45509042 [GRCh38]
Chr1:45974714 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.2(MMACHC):c.-106G>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001097393] |
Chr1:45500227 [GRCh38]
Chr1:45965899 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*799T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001101336] |
Chr1:45510014 [GRCh38]
Chr1:45975686 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*975C>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001095902] |
Chr1:45510190 [GRCh38]
Chr1:45975862 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.*213_*217dup |
duplication |
not provided [RCV001608952] |
Chr1:45509416..45509417 [GRCh38]
Chr1:45975088..45975089 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.430-67A>G |
single nucleotide variant |
not provided [RCV001555498] |
Chr1:45508729 [GRCh38]
Chr1:45974401 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+123C>G |
single nucleotide variant |
not provided [RCV001556335] |
Chr1:45508487 [GRCh38]
Chr1:45974159 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-256T>C |
single nucleotide variant |
not provided [RCV001676778] |
Chr1:45507956 [GRCh38]
Chr1:45973628 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.*10A>G |
single nucleotide variant |
Cobalamin C disease [RCV001836467]|not provided [RCV001590586] |
Chr1:45509225 [GRCh38]
Chr1:45974897 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.147C>T (p.Ala49=) |
single nucleotide variant |
Cobalamin C disease [RCV001410958] |
Chr1:45507421 [GRCh38]
Chr1:45973093 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.75C>A (p.Pro25=) |
single nucleotide variant |
Cobalamin C disease [RCV000979859]|Methylmalonic acidemia with homocystinuria cblC [RCV001272217] |
Chr1:45500407 [GRCh38]
Chr1:45966079 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) |
single nucleotide variant |
Cobalamin C disease [RCV000948439] |
Chr1:45508250 [GRCh38]
Chr1:45973922 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.199T>C (p.Leu67=) |
single nucleotide variant |
Cobalamin C disease [RCV000932125]|Methylmalonic acidemia with homocystinuria cblC [RCV001273213] |
Chr1:45507473 [GRCh38]
Chr1:45973145 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.481C>A (p.Arg161=) |
single nucleotide variant |
Cobalamin C disease [RCV000872351] |
Chr1:45508847 [GRCh38]
Chr1:45974519 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.402T>C (p.Asp134=) |
single nucleotide variant |
Cobalamin C disease [RCV001401099] |
Chr1:45508337 [GRCh38]
Chr1:45974009 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) |
single nucleotide variant |
Cobalamin C disease [RCV000955713]|MMACHC-related disorder [RCV003943077]|Methylmalonic acidemia with homocystinuria cblC [RCV001277242]|not provided [RCV003127556]|not specified [RCV002509584] |
Chr1:45508267 [GRCh38]
Chr1:45973939 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_015506.3(MMACHC):c.462T>C (p.Phe154=) |
single nucleotide variant |
Cobalamin C disease [RCV000913757]|MMACHC-related disorder [RCV003977991]|Methylmalonic acidemia with homocystinuria cblC [RCV001273226] |
Chr1:45508828 [GRCh38]
Chr1:45974500 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.*217del |
deletion |
not provided [RCV001576939] |
Chr1:45509417 [GRCh38]
Chr1:45975089 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+213A>G |
single nucleotide variant |
not provided [RCV001637719] |
Chr1:45500626 [GRCh38]
Chr1:45966298 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.426C>A (p.Asn142Lys) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099238] |
Chr1:45508361 [GRCh38]
Chr1:45974033 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*438C>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099347] |
Chr1:45509653 [GRCh38]
Chr1:45975325 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1622T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001099458] |
Chr1:45510837 [GRCh38]
Chr1:45976509 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) |
single nucleotide variant |
Cobalamin C disease [RCV001059924]|not provided [RCV002254949] |
Chr1:45507456 [GRCh38]
Chr1:45973128 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NC_000001.11:g.(?_45500323)_(45509225_?)del |
deletion |
Cobalamin C disease [RCV001033744] |
Chr1:45965995..45974897 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) |
single nucleotide variant |
Cobalamin C disease [RCV001378413] |
Chr1:45508931 [GRCh38]
Chr1:45974603 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_015506.3(MMACHC):c.720A>G (p.Ser240=) |
single nucleotide variant |
Cobalamin C disease [RCV002069697]|Disorders of Intracellular Cobalamin Metabolism [RCV001101240] |
Chr1:45509086 [GRCh38]
Chr1:45974758 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.*707G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001101335] |
Chr1:45509922 [GRCh38]
Chr1:45975594 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*840T>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001101337] |
Chr1:45510055 [GRCh38]
Chr1:45975727 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) |
single nucleotide variant |
Cobalamin C disease [RCV001229076] |
Chr1:45509015 [GRCh38]
Chr1:45974687 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.82-221C>T |
single nucleotide variant |
not provided [RCV001613810] |
Chr1:45507135 [GRCh38]
Chr1:45972807 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.178dup (p.Asp60fs) |
duplication |
Cobalamin C disease [RCV001004150] |
Chr1:45507451..45507452 [GRCh38]
Chr1:45973123..45973124 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.*206_*217dup |
duplication |
not provided [RCV001647825] |
Chr1:45509416..45509417 [GRCh38]
Chr1:45975088..45975089 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_181697.3(PRDX1):c.515-171_515-170del |
microsatellite |
not provided [RCV001650328] |
Chr1:45511584..45511585 [GRCh38]
Chr1:45977256..45977257 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) |
single nucleotide variant |
Cobalamin C disease [RCV001052682]|not provided [RCV001508861] |
Chr1:45508983 [GRCh38]
Chr1:45974655 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_015506.3(MMACHC):c.81+1G>A |
single nucleotide variant |
Cobalamin C disease [RCV001065545] |
Chr1:45500414 [GRCh38]
Chr1:45966086 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001004149] |
Chr1:45507363 [GRCh38]
Chr1:45973035 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001004151] |
Chr1:45507476 [GRCh38]
Chr1:45973148 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.626dup (p.Thr210fs) |
duplication |
Cobalamin C disease [RCV001004156] |
Chr1:45508991..45508992 [GRCh38]
Chr1:45974663..45974664 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.*212_*217dup |
duplication |
not provided [RCV001714380] |
Chr1:45509416..45509417 [GRCh38]
Chr1:45975088..45975089 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs) |
indel |
Cobalamin C disease [RCV001217288] |
Chr1:45509161..45509233 [GRCh38]
Chr1:45974833..45974905 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.603_604del (p.Asp202fs) |
deletion |
Cobalamin C disease [RCV001212480] |
Chr1:45508968..45508969 [GRCh38]
Chr1:45974640..45974641 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.*110A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001097584] |
Chr1:45509325 [GRCh38]
Chr1:45974997 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1361A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001097680] |
Chr1:45510576 [GRCh38]
Chr1:45976248 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1473G>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001097681] |
Chr1:45510688 [GRCh38]
Chr1:45976360 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) |
single nucleotide variant |
Cobalamin C disease [RCV001004154] |
Chr1:45508847 [GRCh38]
Chr1:45974519 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) |
single nucleotide variant |
Cobalamin C disease [RCV001174544] |
Chr1:45508291 [GRCh38]
Chr1:45973963 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.*1743C>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001101454] |
Chr1:45510958 [GRCh38]
Chr1:45976630 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.727C>G (p.Pro243Ala) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001101241] |
Chr1:45509093 [GRCh38]
Chr1:45974765 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) |
single nucleotide variant |
Cobalamin C disease [RCV001004155]|Methylmalonic acidemia with homocystinuria cblC [RCV001273234]|not provided [RCV004702572] |
Chr1:45508944 [GRCh38]
Chr1:45974616 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1 |
copy number loss |
not provided [RCV001005083] |
Chr1:45386263..45982314 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) |
deletion |
Cobalamin C disease [RCV001254032] |
Chr1:45509153..45509179 [GRCh38]
Chr1:45974825..45974851 [GRCh37]
Chr1:1p34.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter) |
indel |
Cobalamin C disease [RCV001257404] |
Chr1:45508350..45508351 [GRCh38]
Chr1:45974022..45974023 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NC_000001.10:g.(?_33241563)_(46663513_?)dup |
duplication |
Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] |
Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.570C>T (p.Ile190=) |
single nucleotide variant |
Cobalamin C disease [RCV001397676] |
Chr1:45508936 [GRCh38]
Chr1:45974608 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.687A>G (p.Gln229=) |
single nucleotide variant |
Cobalamin C disease [RCV001338175] |
Chr1:45509053 [GRCh38]
Chr1:45974725 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.616del (p.Arg206fs) |
deletion |
Cobalamin C disease [RCV001283805] |
Chr1:45508981 [GRCh38]
Chr1:45974653 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) |
single nucleotide variant |
Cobalamin C disease [RCV001414607] |
Chr1:45508981 [GRCh38]
Chr1:45974653 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) |
single nucleotide variant |
Cobalamin C disease [RCV001367681] |
Chr1:45508950 [GRCh38]
Chr1:45974622 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) |
single nucleotide variant |
Cobalamin C disease [RCV001323234] |
Chr1:45509009 [GRCh38]
Chr1:45974681 [GRCh37]
Chr1:1p34.1 |
pathogenic|uncertain significance |
| NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) |
single nucleotide variant |
Cobalamin C disease [RCV001351726] |
Chr1:45507419 [GRCh38]
Chr1:45973091 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.82-10T>C |
single nucleotide variant |
Cobalamin C disease [RCV001450369] |
Chr1:45507346 [GRCh38]
Chr1:45973018 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.678A>G (p.Pro226=) |
single nucleotide variant |
Cobalamin C disease [RCV001469546] |
Chr1:45509044 [GRCh38]
Chr1:45974716 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.729T>G (p.Pro243=) |
single nucleotide variant |
Cobalamin C disease [RCV001430192] |
Chr1:45509095 [GRCh38]
Chr1:45974767 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001389512] |
Chr1:45508965 [GRCh38]
Chr1:45974637 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.48A>G (p.Leu16=) |
single nucleotide variant |
Cobalamin C disease [RCV001498536] |
Chr1:45500380 [GRCh38]
Chr1:45966052 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.258T>C (p.His86=) |
single nucleotide variant |
Cobalamin C disease [RCV001506342] |
Chr1:45507532 [GRCh38]
Chr1:45973204 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.753C>T (p.Pro251=) |
single nucleotide variant |
Cobalamin C disease [RCV001402625] |
Chr1:45509119 [GRCh38]
Chr1:45974791 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.804C>T (p.Ser268=) |
single nucleotide variant |
Cobalamin C disease [RCV001475410] |
Chr1:45509170 [GRCh38]
Chr1:45974842 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.369A>T (p.Val123=) |
single nucleotide variant |
Cobalamin C disease [RCV001436972] |
Chr1:45508304 [GRCh38]
Chr1:45973976 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.48_49del (p.Cys17fs) |
deletion |
Cobalamin C disease [RCV001390500] |
Chr1:45500379..45500380 [GRCh38]
Chr1:45966051..45966052 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.771C>G (p.Pro257=) |
single nucleotide variant |
Cobalamin C disease [RCV001492903] |
Chr1:45509137 [GRCh38]
Chr1:45974809 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.231C>T (p.Asp77=) |
single nucleotide variant |
Cobalamin C disease [RCV001480685] |
Chr1:45507505 [GRCh38]
Chr1:45973177 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.423G>A (p.Gly141=) |
single nucleotide variant |
Cobalamin C disease [RCV001480766] |
Chr1:45508358 [GRCh38]
Chr1:45974030 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.606T>C (p.Asp202=) |
single nucleotide variant |
Cobalamin C disease [RCV001437217] |
Chr1:45508972 [GRCh38]
Chr1:45974644 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.123dup (p.Pro42fs) |
duplication |
Cobalamin C disease [RCV001390651] |
Chr1:45507396..45507397 [GRCh38]
Chr1:45973068..45973069 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.141C>G (p.Thr47=) |
single nucleotide variant |
Cobalamin C disease [RCV001474449] |
Chr1:45507415 [GRCh38]
Chr1:45973087 [GRCh37]
Chr1:1p34.1 |
likely benign |
| GRCh37/hg19 1p34.1(chr1:45965972-45979054) |
copy number loss |
Cobalamin C disease [RCV001535968] |
Chr1:45965972..45979054 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.828A>G (p.Pro276=) |
single nucleotide variant |
Cobalamin C disease [RCV001415609] |
Chr1:45509194 [GRCh38]
Chr1:45974866 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.122del (p.Leu41fs) |
deletion |
Cobalamin C disease [RCV001390729] |
Chr1:45507396 [GRCh38]
Chr1:45973068 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.156A>G (p.Val52=) |
single nucleotide variant |
Cobalamin C disease [RCV001474747] |
Chr1:45507430 [GRCh38]
Chr1:45973102 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.762A>G (p.Thr254=) |
single nucleotide variant |
Cobalamin C disease [RCV001403935] |
Chr1:45509128 [GRCh38]
Chr1:45974800 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.726G>A (p.Lys242=) |
single nucleotide variant |
Cobalamin C disease [RCV001492035] |
Chr1:45509092 [GRCh38]
Chr1:45974764 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.180C>T (p.Asp60=) |
single nucleotide variant |
Cobalamin C disease [RCV001481151] |
Chr1:45507454 [GRCh38]
Chr1:45973126 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.828A>C (p.Pro276=) |
single nucleotide variant |
Cobalamin C disease [RCV001449064] |
Chr1:45509194 [GRCh38]
Chr1:45974866 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.574C>T (p.Leu192=) |
single nucleotide variant |
Cobalamin C disease [RCV001441700] |
Chr1:45508940 [GRCh38]
Chr1:45974612 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.633C>T (p.Pro211=) |
single nucleotide variant |
Cobalamin C disease [RCV001410149] |
Chr1:45508999 [GRCh38]
Chr1:45974671 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.649_650del (p.Glu217fs) |
deletion |
Cobalamin C disease [RCV001387872] |
Chr1:45509014..45509015 [GRCh38]
Chr1:45974686..45974687 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.564C>T (p.Asp188=) |
single nucleotide variant |
Cobalamin C disease [RCV001401164] |
Chr1:45508930 [GRCh38]
Chr1:45974602 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys) |
single nucleotide variant |
Cobalamin C disease [RCV001390451] |
Chr1:45508815 [GRCh38]
Chr1:45974487 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.42C>T (p.Asp14=) |
single nucleotide variant |
Cobalamin C disease [RCV001428419] |
Chr1:45500374 [GRCh38]
Chr1:45966046 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.816C>A (p.Pro272=) |
single nucleotide variant |
Cobalamin C disease [RCV001450397] |
Chr1:45509182 [GRCh38]
Chr1:45974854 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.213C>T (p.His71=) |
single nucleotide variant |
Cobalamin C disease [RCV001459730] |
Chr1:45507487 [GRCh38]
Chr1:45973159 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.159C>T (p.Leu53=) |
single nucleotide variant |
Cobalamin C disease [RCV001453020] |
Chr1:45507433 [GRCh38]
Chr1:45973105 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-49A>G |
single nucleotide variant |
not provided [RCV001592662] |
Chr1:45508163 [GRCh38]
Chr1:45973835 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.414C>T (p.Asp138=) |
single nucleotide variant |
Cobalamin C disease [RCV001471094] |
Chr1:45508349 [GRCh38]
Chr1:45974021 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+10T>G |
single nucleotide variant |
Cobalamin C disease [RCV001481169] |
Chr1:45500423 [GRCh38]
Chr1:45966095 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.822C>G (p.Val274=) |
single nucleotide variant |
Cobalamin C disease [RCV001484448] |
Chr1:45509188 [GRCh38]
Chr1:45974860 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-190C>T |
single nucleotide variant |
not provided [RCV001669953] |
Chr1:45508022 [GRCh38]
Chr1:45973694 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.801G>A (p.Arg267=) |
single nucleotide variant |
Cobalamin C disease [RCV001452793]|not provided [RCV002070279] |
Chr1:45509167 [GRCh38]
Chr1:45974839 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.72C>T (p.Tyr24=) |
single nucleotide variant |
Cobalamin C disease [RCV001439656] |
Chr1:45500404 [GRCh38]
Chr1:45966076 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.579C>G (p.Leu193=) |
single nucleotide variant |
Cobalamin C disease [RCV001486351] |
Chr1:45508945 [GRCh38]
Chr1:45974617 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs) |
duplication |
Cobalamin C disease [RCV001390854] |
Chr1:45508913..45508914 [GRCh38]
Chr1:45974585..45974586 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.627G>C (p.Val209=) |
single nucleotide variant |
Cobalamin C disease [RCV001463159] |
Chr1:45508993 [GRCh38]
Chr1:45974665 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.821T>C (p.Val274Ala) |
single nucleotide variant |
Cobalamin C disease [RCV001505493] |
Chr1:45509187 [GRCh38]
Chr1:45974859 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.255C>T (p.Tyr85=) |
single nucleotide variant |
Cobalamin C disease [RCV001436897] |
Chr1:45507529 [GRCh38]
Chr1:45973201 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.495G>C (p.Leu165=) |
single nucleotide variant |
Cobalamin C disease [RCV001497275] |
Chr1:45508861 [GRCh38]
Chr1:45974533 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.270T>G (p.Val90=) |
single nucleotide variant |
Cobalamin C disease [RCV001454945] |
Chr1:45507544 [GRCh38]
Chr1:45973216 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.813C>T (p.Ser271=) |
single nucleotide variant |
Cobalamin C disease [RCV001484062] |
Chr1:45509179 [GRCh38]
Chr1:45974851 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) |
single nucleotide variant |
Cobalamin C disease [RCV001437496] |
Chr1:45509109 [GRCh38]
Chr1:45974781 [GRCh37]
Chr1:1p34.1 |
likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3 |
copy number gain |
See cases [RCV002246181] |
Chr1:44346001..46332161 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.473T>C (p.Phe158Ser) |
single nucleotide variant |
See cases [RCV002252544] |
Chr1:45508839 [GRCh38]
Chr1:45974511 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.125C>T (p.Pro42Leu) |
single nucleotide variant |
not provided [RCV001772400] |
Chr1:45507399 [GRCh38]
Chr1:45973071 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) |
indel |
Cobalamin C disease [RCV002488537]|not provided [RCV001764939] |
Chr1:45508262..45508264 [GRCh38]
Chr1:45973934..45973936 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.247G>A (p.Val83Met) |
single nucleotide variant |
not provided [RCV001776608] |
Chr1:45507521 [GRCh38]
Chr1:45973193 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.478_481del (p.Ile160fs) |
deletion |
Cobalamin C disease [RCV003600015] |
Chr1:45508842..45508845 [GRCh38]
Chr1:45974514..45974517 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) |
single nucleotide variant |
Cobalamin C disease [RCV002478027]|not provided [RCV001795753] |
Chr1:45508799 [GRCh38]
Chr1:45974471 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.187del (p.Leu63fs) |
deletion |
Cobalamin C disease [RCV001815629] |
Chr1:45507459 [GRCh38]
Chr1:45973131 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.*200_*201insTTTTTT |
insertion |
not provided [RCV001797356] |
Chr1:45509415..45509416 [GRCh38]
Chr1:45975087..45975088 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala) |
single nucleotide variant |
Cobalamin C disease [RCV001863982] |
Chr1:45500370 [GRCh38]
Chr1:45966042 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.435_436del (p.Ser146fs) |
microsatellite |
Cobalamin C disease [RCV001970034] |
Chr1:45508799..45508800 [GRCh38]
Chr1:45974471..45974472 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) |
single nucleotide variant |
Cobalamin C disease [RCV001927959]|Inborn genetic diseases [RCV004042654]|not specified [RCV002222741] |
Chr1:45509129 [GRCh38]
Chr1:45974801 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001844375] |
Chr1:45508287 [GRCh38]
Chr1:45973959 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.366T>G (p.His122Gln) |
single nucleotide variant |
Cobalamin C disease [RCV002039287] |
Chr1:45508301 [GRCh38]
Chr1:45973973 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.313_315del (p.Tyr105del) |
deletion |
Cobalamin C disease [RCV001912327] |
Chr1:45508246..45508248 [GRCh38]
Chr1:45973918..45973920 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.277-2A>G |
single nucleotide variant |
Cobalamin C disease [RCV002006628] |
Chr1:45508210 [GRCh38]
Chr1:45973882 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.506_507del (p.Ile169fs) |
deletion |
Cobalamin C disease [RCV002007580] |
Chr1:45508871..45508872 [GRCh38]
Chr1:45974543..45974544 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) |
copy number loss |
not specified [RCV002053281] |
Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3 |
likely pathogenic |
| NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) |
single nucleotide variant |
Cobalamin C disease [RCV002003344] |
Chr1:45508281 [GRCh38]
Chr1:45973953 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) |
copy number gain |
not specified [RCV002052781] |
Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33 |
pathogenic |
| NM_015506.3(MMACHC):c.490G>A (p.Val164Met) |
single nucleotide variant |
Cobalamin C disease [RCV001894793] |
Chr1:45508856 [GRCh38]
Chr1:45974528 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer) |
deletion |
Cobalamin C disease [RCV002007156] |
Chr1:45509013..45509015 [GRCh38]
Chr1:45974685..45974687 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer) |
deletion |
Cobalamin C disease [RCV002002413] |
Chr1:45507361..45507368 [GRCh38]
Chr1:45973033..45973040 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.366T>A (p.His122Gln) |
single nucleotide variant |
Cobalamin C disease [RCV002041245] |
Chr1:45508301 [GRCh38]
Chr1:45973973 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) |
indel |
Cobalamin C disease [RCV001825111] |
Chr1:45508809..45508825 [GRCh38]
Chr1:45974481..45974497 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.534del (p.Lys178fs) |
deletion |
Cobalamin C disease [RCV001941845] |
Chr1:45508897 [GRCh38]
Chr1:45974569 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.222G>T (p.Met74Ile) |
single nucleotide variant |
Cobalamin C disease [RCV001973606] |
Chr1:45507496 [GRCh38]
Chr1:45973168 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.619del (p.Asp207fs) |
deletion |
Cobalamin C disease [RCV002037976] |
Chr1:45508983 [GRCh38]
Chr1:45974655 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.434dup (p.Ser146fs) |
duplication |
Cobalamin C disease [RCV001932334] |
Chr1:45508799..45508800 [GRCh38]
Chr1:45974471..45974472 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg) |
single nucleotide variant |
Cobalamin C disease [RCV001931148] |
Chr1:45507411 [GRCh38]
Chr1:45973083 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn) |
single nucleotide variant |
Cobalamin C disease [RCV001901724] |
Chr1:45508928 [GRCh38]
Chr1:45974600 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) |
single nucleotide variant |
Cobalamin C disease [RCV001991647] |
Chr1:45508832 [GRCh38]
Chr1:45974504 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly) |
single nucleotide variant |
Cobalamin C disease [RCV001918460] |
Chr1:45509165 [GRCh38]
Chr1:45974837 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser) |
single nucleotide variant |
Cobalamin C disease [RCV001877015] |
Chr1:45508997 [GRCh38]
Chr1:45974669 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45974458)_(45974897_?)del |
deletion |
Cobalamin C disease [RCV001951317] |
Chr1:45974458..45974897 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) |
single nucleotide variant |
Cobalamin C disease [RCV002050458] |
Chr1:45508281 [GRCh38]
Chr1:45973953 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.14T>A (p.Val5Asp) |
single nucleotide variant |
Cobalamin C disease [RCV001899154] |
Chr1:45500346 [GRCh38]
Chr1:45966018 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu) |
single nucleotide variant |
Cobalamin C disease [RCV002032102] |
Chr1:45500385 [GRCh38]
Chr1:45966057 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) |
single nucleotide variant |
Cobalamin C disease [RCV001961242]|Inborn genetic diseases [RCV004044507]|not specified [RCV002271710] |
Chr1:45508800 [GRCh38]
Chr1:45974472 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg) |
single nucleotide variant |
Cobalamin C disease [RCV001989721] |
Chr1:45507436 [GRCh38]
Chr1:45973108 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45965995)_(45966095_?)del |
deletion |
Cobalamin C disease [RCV001960541] |
Chr1:45965995..45966095 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) |
single nucleotide variant |
Cobalamin C disease [RCV001931578]|Inborn genetic diseases [RCV002562027] |
Chr1:45509129 [GRCh38]
Chr1:45974801 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) |
single nucleotide variant |
Cobalamin C disease [RCV002030936] |
Chr1:45508805 [GRCh38]
Chr1:45974477 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.393A>C (p.Gln131His) |
single nucleotide variant |
Cobalamin C disease [RCV001993796] |
Chr1:45508328 [GRCh38]
Chr1:45974000 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001958489] |
Chr1:45508354 [GRCh38]
Chr1:45974026 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter) |
single nucleotide variant |
Cobalamin C disease [RCV001867599] |
Chr1:45508250 [GRCh38]
Chr1:45973922 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.276+13C>G |
single nucleotide variant |
Cobalamin C disease [RCV002130274] |
Chr1:45507563 [GRCh38]
Chr1:45973235 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.366T>C (p.His122=) |
single nucleotide variant |
Cobalamin C disease [RCV002104857] |
Chr1:45508301 [GRCh38]
Chr1:45973973 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.259C>T (p.Leu87=) |
single nucleotide variant |
Cobalamin C disease [RCV002112125] |
Chr1:45507533 [GRCh38]
Chr1:45973205 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.276+10G>A |
single nucleotide variant |
Cobalamin C disease [RCV002124327] |
Chr1:45507560 [GRCh38]
Chr1:45973232 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.732T>C (p.Ser244=) |
single nucleotide variant |
Cobalamin C disease [RCV002108839] |
Chr1:45509098 [GRCh38]
Chr1:45974770 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.210C>T (p.Cys70=) |
single nucleotide variant |
Cobalamin C disease [RCV002086857] |
Chr1:45507484 [GRCh38]
Chr1:45973156 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.63C>T (p.Phe21=) |
single nucleotide variant |
Cobalamin C disease [RCV002085998] |
Chr1:45500395 [GRCh38]
Chr1:45966067 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.15C>T (p.Val5=) |
single nucleotide variant |
Cobalamin C disease [RCV002189672] |
Chr1:45500347 [GRCh38]
Chr1:45966019 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.792C>T (p.Ser264=) |
single nucleotide variant |
Cobalamin C disease [RCV002071206] |
Chr1:45509158 [GRCh38]
Chr1:45974830 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+7G>A |
single nucleotide variant |
Cobalamin C disease [RCV002215306] |
Chr1:45508371 [GRCh38]
Chr1:45974043 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.78C>T (p.Phe26=) |
single nucleotide variant |
Cobalamin C disease [RCV002076693] |
Chr1:45500410 [GRCh38]
Chr1:45966082 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+7_429+31del |
deletion |
Cobalamin C disease [RCV002170294] |
Chr1:45508366..45508390 [GRCh38]
Chr1:45974038..45974062 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.430-10C>T |
single nucleotide variant |
Cobalamin C disease [RCV002078135] |
Chr1:45508786 [GRCh38]
Chr1:45974458 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.339C>G (p.Pro113=) |
single nucleotide variant |
Cobalamin C disease [RCV002150874] |
Chr1:45508274 [GRCh38]
Chr1:45973946 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg) |
single nucleotide variant |
Cobalamin C disease [RCV002174708]|not provided [RCV002508338] |
Chr1:45500340 [GRCh38]
Chr1:45966012 [GRCh37]
Chr1:1p34.1 |
likely benign|uncertain significance |
| NM_015506.3(MMACHC):c.277-7G>A |
single nucleotide variant |
Cobalamin C disease [RCV002189617] |
Chr1:45508205 [GRCh38]
Chr1:45973877 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.520C>T (p.Leu174=) |
single nucleotide variant |
Cobalamin C disease [RCV002090755] |
Chr1:45508886 [GRCh38]
Chr1:45974558 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.546T>C (p.Cys182=) |
single nucleotide variant |
Cobalamin C disease [RCV002146231] |
Chr1:45508912 [GRCh38]
Chr1:45974584 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.753C>A (p.Pro251=) |
single nucleotide variant |
Cobalamin C disease [RCV002152411] |
Chr1:45509119 [GRCh38]
Chr1:45974791 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.105G>A (p.Leu35=) |
single nucleotide variant |
Cobalamin C disease [RCV002215524] |
Chr1:45507379 [GRCh38]
Chr1:45973051 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.729T>C (p.Pro243=) |
single nucleotide variant |
Cobalamin C disease [RCV002106251] |
Chr1:45509095 [GRCh38]
Chr1:45974767 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_181697.3(PRDX1):c.558T>C (p.Pro186=) |
single nucleotide variant |
not provided [RCV002193664] |
Chr1:45511371 [GRCh38]
Chr1:45977043 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+14T>G |
single nucleotide variant |
Cobalamin C disease [RCV002212976] |
Chr1:45508378 [GRCh38]
Chr1:45974050 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.501A>C (p.Pro167=) |
single nucleotide variant |
Cobalamin C disease [RCV002195161] |
Chr1:45508867 [GRCh38]
Chr1:45974539 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.45G>A (p.Thr15=) |
single nucleotide variant |
Cobalamin C disease [RCV002110306] |
Chr1:45500377 [GRCh38]
Chr1:45966049 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.810C>T (p.Leu270=) |
single nucleotide variant |
Cobalamin C disease [RCV002085476] |
Chr1:45509176 [GRCh38]
Chr1:45974848 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.354G>A (p.Gln118=) |
single nucleotide variant |
Cobalamin C disease [RCV002103867] |
Chr1:45508289 [GRCh38]
Chr1:45973961 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) |
single nucleotide variant |
Cobalamin C disease [RCV002488623]|not provided [RCV002244570] |
Chr1:45508231 [GRCh38]
Chr1:45973903 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.573C>T (p.Ala191=) |
single nucleotide variant |
Cobalamin C disease [RCV002202221] |
Chr1:45508939 [GRCh38]
Chr1:45974611 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.831T>C (p.Pro277=) |
single nucleotide variant |
Cobalamin C disease [RCV002156000] |
Chr1:45509197 [GRCh38]
Chr1:45974869 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.636G>A (p.Gln212=) |
single nucleotide variant |
Cobalamin C disease [RCV002139214] |
Chr1:45509002 [GRCh38]
Chr1:45974674 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.501A>G (p.Pro167=) |
single nucleotide variant |
Cobalamin C disease [RCV002140905] |
Chr1:45508867 [GRCh38]
Chr1:45974539 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.430-8C>T |
single nucleotide variant |
Cobalamin C disease [RCV002123437] |
Chr1:45508788 [GRCh38]
Chr1:45974460 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.291G>A (p.Leu97=) |
single nucleotide variant |
Cobalamin C disease [RCV002181486] |
Chr1:45508226 [GRCh38]
Chr1:45973898 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.696C>G (p.Ala232=) |
single nucleotide variant |
Cobalamin C disease [RCV002157033] |
Chr1:45509062 [GRCh38]
Chr1:45974734 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.591T>C (p.Asn197=) |
single nucleotide variant |
Cobalamin C disease [RCV003110481] |
Chr1:45508957 [GRCh38]
Chr1:45974629 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NC_000001.10:g.(?_44257753)_(46663493_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003109481] |
Chr1:44257753..46663493 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu) |
single nucleotide variant |
Cobalamin C disease [RCV003111862]|Inborn genetic diseases [RCV004244581] |
Chr1:45509120 [GRCh38]
Chr1:45974792 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45966005)_(45977106_?)dup |
duplication |
Cobalamin C disease [RCV003119611] |
Chr1:45966005..45977106 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45966005)_(45984715_?)del |
deletion |
not provided [RCV003122569] |
Chr1:45966005..45984715 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.277-6T>C |
single nucleotide variant |
Cobalamin C disease [RCV003121403] |
Chr1:45508206 [GRCh38]
Chr1:45973878 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser) |
single nucleotide variant |
Cobalamin C disease [RCV003148028] |
Chr1:45508293 [GRCh38]
Chr1:45973965 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs) |
indel |
Cobalamin C disease [RCV003231051] |
Chr1:45508256..45508264 [GRCh38]
Chr1:45973928..45973936 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) |
single nucleotide variant |
Cobalamin C disease [RCV002488650]|not provided [RCV002261773] |
Chr1:45507496 [GRCh38]
Chr1:45973168 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro) |
single nucleotide variant |
Cobalamin C disease [RCV003097741]|not provided [RCV002290930] |
Chr1:45508919 [GRCh38]
Chr1:45974591 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser) |
single nucleotide variant |
Cobalamin C disease [RCV002297715] |
Chr1:45509195 [GRCh38]
Chr1:45974867 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr) |
single nucleotide variant |
Cobalamin C disease [RCV002301124] |
Chr1:45507419 [GRCh38]
Chr1:45973091 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter) |
single nucleotide variant |
Cobalamin C disease [RCV002309542] |
Chr1:45507371 [GRCh38]
Chr1:45973043 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.766G>A (p.Ala256Thr) |
single nucleotide variant |
not provided [RCV002305991] |
Chr1:45509132 [GRCh38]
Chr1:45974804 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.51del (p.Pro18fs) |
deletion |
Cobalamin C disease [RCV002306492] |
Chr1:45500383 [GRCh38]
Chr1:45966055 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.143_146del (p.Leu48fs) |
deletion |
Cobalamin C disease [RCV002307127] |
Chr1:45507416..45507419 [GRCh38]
Chr1:45973088..45973091 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.70del (p.Tyr24fs) |
deletion |
Cobalamin C disease [RCV002309550] |
Chr1:45500400 [GRCh38]
Chr1:45966072 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.789C>T (p.Pro263=) |
single nucleotide variant |
Cobalamin C disease [RCV002681517] |
Chr1:45509155 [GRCh38]
Chr1:45974827 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.276+2T>C |
single nucleotide variant |
Cobalamin C disease [RCV002967840] |
Chr1:45507552 [GRCh38]
Chr1:45973224 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr) |
single nucleotide variant |
Cobalamin C disease [RCV002968146]|not provided [RCV003108140] |
Chr1:45508997 [GRCh38]
Chr1:45974669 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.762A>C (p.Thr254=) |
single nucleotide variant |
Cobalamin C disease [RCV002730098] |
Chr1:45509128 [GRCh38]
Chr1:45974800 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.266G>A (p.Arg89His) |
single nucleotide variant |
Cobalamin C disease [RCV002993899]|Inborn genetic diseases [RCV002988767] |
Chr1:45507540 [GRCh38]
Chr1:45973212 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg) |
single nucleotide variant |
Cobalamin C disease [RCV003032729] |
Chr1:45508805 [GRCh38]
Chr1:45974477 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.626T>A (p.Val209Glu) |
single nucleotide variant |
Cobalamin C disease [RCV002616325]|Inborn genetic diseases [RCV002616324]|not provided [RCV003481399] |
Chr1:45508992 [GRCh38]
Chr1:45974664 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.385T>C (p.Tyr129His) |
single nucleotide variant |
Cobalamin C disease [RCV002996058] |
Chr1:45508320 [GRCh38]
Chr1:45973992 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.433del (p.Ile145fs) |
deletion |
Cobalamin C disease [RCV002975122] |
Chr1:45508799 [GRCh38]
Chr1:45974471 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys) |
single nucleotide variant |
Cobalamin C disease [RCV002615255] |
Chr1:45507539 [GRCh38]
Chr1:45973211 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu) |
single nucleotide variant |
Cobalamin C disease [RCV003099021] |
Chr1:45508869 [GRCh38]
Chr1:45974541 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.277-10A>C |
single nucleotide variant |
Cobalamin C disease [RCV002862941] |
Chr1:45508202 [GRCh38]
Chr1:45973874 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.441T>A (p.Gly147=) |
single nucleotide variant |
Cobalamin C disease [RCV002947410] |
Chr1:45508807 [GRCh38]
Chr1:45974479 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.663C>T (p.Ala221=) |
single nucleotide variant |
Cobalamin C disease [RCV003034700] |
Chr1:45509029 [GRCh38]
Chr1:45974701 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+1G>T |
single nucleotide variant |
Cobalamin C disease [RCV002847753] |
Chr1:45500414 [GRCh38]
Chr1:45966086 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.423G>T (p.Gly141=) |
single nucleotide variant |
Cobalamin C disease [RCV003080419] |
Chr1:45508358 [GRCh38]
Chr1:45974030 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer) |
insertion |
Cobalamin C disease [RCV002889562] |
Chr1:45508842..45508843 [GRCh38]
Chr1:45974514..45974515 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr) |
single nucleotide variant |
Cobalamin C disease [RCV003035796] |
Chr1:45507519 [GRCh38]
Chr1:45973191 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg) |
single nucleotide variant |
Cobalamin C disease [RCV002820361] |
Chr1:45508868 [GRCh38]
Chr1:45974540 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.547G>A (p.Val183Ile) |
single nucleotide variant |
Cobalamin C disease [RCV002621178] |
Chr1:45508913 [GRCh38]
Chr1:45974585 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.432C>T (p.Arg144=) |
single nucleotide variant |
Cobalamin C disease [RCV002824856] |
Chr1:45508798 [GRCh38]
Chr1:45974470 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser) |
single nucleotide variant |
Cobalamin C disease [RCV003079647] |
Chr1:45509067 [GRCh38]
Chr1:45974739 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.45G>C (p.Thr15=) |
single nucleotide variant |
Cobalamin C disease [RCV002785455] |
Chr1:45500377 [GRCh38]
Chr1:45966049 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.663C>A (p.Ala221=) |
single nucleotide variant |
Cobalamin C disease [RCV003019181] |
Chr1:45509029 [GRCh38]
Chr1:45974701 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.579C>T (p.Leu193=) |
single nucleotide variant |
Cobalamin C disease [RCV002658736] |
Chr1:45508945 [GRCh38]
Chr1:45974617 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.425A>G (p.Asn142Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002660847] |
Chr1:45508360 [GRCh38]
Chr1:45974032 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.173T>C (p.Met58Thr) |
single nucleotide variant |
not provided [RCV002509971] |
Chr1:45507447 [GRCh38]
Chr1:45973119 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.602G>A (p.Arg201His) |
single nucleotide variant |
Cobalamin C disease [RCV002814346]|Inborn genetic diseases [RCV002795888]|not provided [RCV003481334] |
Chr1:45508968 [GRCh38]
Chr1:45974640 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.189C>T (p.Leu63=) |
single nucleotide variant |
Cobalamin C disease [RCV002876622] |
Chr1:45507463 [GRCh38]
Chr1:45973135 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.82-17T>C |
single nucleotide variant |
Cobalamin C disease [RCV003082262] |
Chr1:45507339 [GRCh38]
Chr1:45973011 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+9G>C |
single nucleotide variant |
Cobalamin C disease [RCV002594793] |
Chr1:45508373 [GRCh38]
Chr1:45974045 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys) |
single nucleotide variant |
Cobalamin C disease [RCV002663602] |
Chr1:45508221 [GRCh38]
Chr1:45973893 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.234A>C (p.Pro78=) |
single nucleotide variant |
Cobalamin C disease [RCV002872318] |
Chr1:45507508 [GRCh38]
Chr1:45973180 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser) |
single nucleotide variant |
Cobalamin C disease [RCV002667040] |
Chr1:45508956 [GRCh38]
Chr1:45974628 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.374G>C (p.Gly125Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002916188] |
Chr1:45508309 [GRCh38]
Chr1:45973981 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu) |
single nucleotide variant |
Cobalamin C disease [RCV002595996] |
Chr1:45508826 [GRCh38]
Chr1:45974498 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.129G>A (p.Leu43=) |
single nucleotide variant |
Cobalamin C disease [RCV002872562] |
Chr1:45507403 [GRCh38]
Chr1:45973075 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.276+9G>A |
single nucleotide variant |
Cobalamin C disease [RCV003023413] |
Chr1:45507559 [GRCh38]
Chr1:45973231 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.375G>C (p.Gly125=) |
single nucleotide variant |
Cobalamin C disease [RCV002894205] |
Chr1:45508310 [GRCh38]
Chr1:45973982 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg) |
single nucleotide variant |
Cobalamin C disease [RCV002853482] |
Chr1:45509213 [GRCh38]
Chr1:45974885 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.588C>T (p.Phe196=) |
single nucleotide variant |
Cobalamin C disease [RCV003085525] |
Chr1:45508954 [GRCh38]
Chr1:45974626 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs) |
duplication |
Cobalamin C disease [RCV003049329] |
Chr1:45509026..45509027 [GRCh38]
Chr1:45974698..45974699 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.318G>A (p.Glu106=) |
single nucleotide variant |
Cobalamin C disease [RCV002632013] |
Chr1:45508253 [GRCh38]
Chr1:45973925 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del) |
deletion |
Cobalamin C disease [RCV003031789] |
Chr1:45509079..45509090 [GRCh38]
Chr1:45974751..45974762 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.297A>C (p.Ile99=) |
single nucleotide variant |
Cobalamin C disease [RCV003027153] |
Chr1:45508232 [GRCh38]
Chr1:45973904 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.438A>G (p.Ser146=) |
single nucleotide variant |
Cobalamin C disease [RCV003046779] |
Chr1:45508804 [GRCh38]
Chr1:45974476 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.648dup (p.Glu217fs) |
duplication |
Cobalamin C disease [RCV002811327] |
Chr1:45509013..45509014 [GRCh38]
Chr1:45974685..45974686 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.14_24del (p.Val5fs) |
deletion |
Cobalamin C disease [RCV002648152] |
Chr1:45500345..45500355 [GRCh38]
Chr1:45966017..45966027 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.162C>T (p.Ser54=) |
single nucleotide variant |
Cobalamin C disease [RCV003027628] |
Chr1:45507436 [GRCh38]
Chr1:45973108 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.627G>A (p.Val209=) |
single nucleotide variant |
Cobalamin C disease [RCV002646916] |
Chr1:45508993 [GRCh38]
Chr1:45974665 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.441T>G (p.Gly147=) |
single nucleotide variant |
Cobalamin C disease [RCV003046780] |
Chr1:45508807 [GRCh38]
Chr1:45974479 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg) |
single nucleotide variant |
Cobalamin C disease [RCV002648154] |
Chr1:45508829 [GRCh38]
Chr1:45974501 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_181697.3(PRDX1):c.523G>T (p.Ala175Ser) |
single nucleotide variant |
not provided [RCV002580290] |
Chr1:45511406 [GRCh38]
Chr1:45977078 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg) |
single nucleotide variant |
Cobalamin C disease [RCV002988687] |
Chr1:45508964 [GRCh38]
Chr1:45974636 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.151_152del (p.Leu51fs) |
deletion |
Cobalamin C disease [RCV002646172] |
Chr1:45507425..45507426 [GRCh38]
Chr1:45973097..45973098 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.273A>G (p.Arg91=) |
single nucleotide variant |
Cobalamin C disease [RCV003062511] |
Chr1:45507547 [GRCh38]
Chr1:45973219 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.375G>T (p.Gly125=) |
single nucleotide variant |
Cobalamin C disease [RCV003031002] |
Chr1:45508310 [GRCh38]
Chr1:45973982 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+20T>C |
single nucleotide variant |
Cobalamin C disease [RCV002629203] |
Chr1:45508384 [GRCh38]
Chr1:45974056 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.642C>A (p.Arg214=) |
single nucleotide variant |
Cobalamin C disease [RCV002578915] |
Chr1:45509008 [GRCh38]
Chr1:45974680 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.276+8A>G |
single nucleotide variant |
Cobalamin C disease [RCV002806452] |
Chr1:45507558 [GRCh38]
Chr1:45973230 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu) |
single nucleotide variant |
Cobalamin C disease [RCV002834505] |
Chr1:45508848 [GRCh38]
Chr1:45974520 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.689G>T (p.Arg230Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002748201] |
Chr1:45509055 [GRCh38]
Chr1:45974727 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.429+18_429+21del |
deletion |
Cobalamin C disease [RCV003087609] |
Chr1:45508380..45508383 [GRCh38]
Chr1:45974052..45974055 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu) |
single nucleotide variant |
Cobalamin C disease [RCV003068298] |
Chr1:45508932 [GRCh38]
Chr1:45974604 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.81+2T>C |
single nucleotide variant |
Cobalamin C disease [RCV003052324] |
Chr1:45500415 [GRCh38]
Chr1:45966087 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.343A>G (p.Ile115Val) |
single nucleotide variant |
Cobalamin C disease [RCV003068470]|Inborn genetic diseases [RCV003068471] |
Chr1:45508278 [GRCh38]
Chr1:45973950 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.430-16T>C |
single nucleotide variant |
Cobalamin C disease [RCV002657791] |
Chr1:45508780 [GRCh38]
Chr1:45974452 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn) |
single nucleotide variant |
Cobalamin C disease [RCV002633320]|Inborn genetic diseases [RCV003269512] |
Chr1:45507414 [GRCh38]
Chr1:45973086 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_181697.3(PRDX1):c.554A>C (p.Lys185Thr) |
single nucleotide variant |
not provided [RCV002609698] |
Chr1:45511375 [GRCh38]
Chr1:45977047 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.276+5G>A |
single nucleotide variant |
Cobalamin C disease [RCV002610475] |
Chr1:45507555 [GRCh38]
Chr1:45973227 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu) |
single nucleotide variant |
Cobalamin C disease [RCV002585196] |
Chr1:45509109 [GRCh38]
Chr1:45974781 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile) |
single nucleotide variant |
Cobalamin C disease [RCV002607810] |
Chr1:45507414 [GRCh38]
Chr1:45973086 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.684C>T (p.Ala228=) |
single nucleotide variant |
Cobalamin C disease [RCV002609537] |
Chr1:45509050 [GRCh38]
Chr1:45974722 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.164C>T (p.Thr55Met) |
single nucleotide variant |
Cobalamin C disease [RCV002681027]|not provided [RCV003481322] |
Chr1:45507438 [GRCh38]
Chr1:45973110 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.430-10C>A |
single nucleotide variant |
Cobalamin C disease [RCV002942127] |
Chr1:45508786 [GRCh38]
Chr1:45974458 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser) |
single nucleotide variant |
Cobalamin C disease [RCV002634466] |
Chr1:45507528 [GRCh38]
Chr1:45973200 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.441T>C (p.Gly147=) |
single nucleotide variant |
Cobalamin C disease [RCV003071003] |
Chr1:45508807 [GRCh38]
Chr1:45974479 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter) |
single nucleotide variant |
Cobalamin C disease [RCV003155654] |
Chr1:45509051 [GRCh38]
Chr1:45974723 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.605A>T (p.Asp202Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003180276] |
Chr1:45508971 [GRCh38]
Chr1:45974643 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.571G>T (p.Ala191Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003175090] |
Chr1:45508937 [GRCh38]
Chr1:45974609 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.667T>C (p.Phe223Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003260824] |
Chr1:45509033 [GRCh38]
Chr1:45974705 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003260581] |
Chr1:45508946 [GRCh38]
Chr1:45974618 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.836C>T (p.Ser279Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003357892] |
Chr1:45509202 [GRCh38]
Chr1:45974874 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter) |
single nucleotide variant |
Cobalamin C disease [RCV003461865] |
Chr1:45500383 [GRCh38]
Chr1:45966055 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3:c.275_278del |
deletion |
Cobalamin C disease [RCV003455895] |
|
likely pathogenic |
| NM_015506.3(MMACHC):c.430-2A>G |
single nucleotide variant |
Cobalamin C disease [RCV003470146] |
Chr1:45508794 [GRCh38]
Chr1:45974466 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs) |
duplication |
Cobalamin C disease [RCV003470150] |
Chr1:45507457..45507458 [GRCh38]
Chr1:45973129..45973130 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.228_231del (p.Asp77fs) |
microsatellite |
Cobalamin C disease [RCV003470153] |
Chr1:45507497..45507500 [GRCh38]
Chr1:45973169..45973172 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer) |
deletion |
Cobalamin C disease [RCV003470154] |
Chr1:45508990 [GRCh38]
Chr1:45974662 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter) |
duplication |
Cobalamin C disease [RCV003470144] |
Chr1:45508905..45508906 [GRCh38]
Chr1:45974577..45974578 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.429+14T>A |
single nucleotide variant |
Cobalamin C disease [RCV003874608] |
Chr1:45508378 [GRCh38]
Chr1:45974050 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.720dup (p.Glu241fs) |
duplication |
Cobalamin C disease [RCV003470151] |
Chr1:45509085..45509086 [GRCh38]
Chr1:45974757..45974758 [GRCh37]
Chr1:1p34.1 |
likely pathogenic|uncertain significance |
| NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer) |
deletion |
Cobalamin C disease [RCV003470149] |
Chr1:45508850 [GRCh38]
Chr1:45974522 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.277-15T>G |
single nucleotide variant |
Cobalamin C disease [RCV003875680] |
Chr1:45508197 [GRCh38]
Chr1:45973869 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.451_461del (p.His151fs) |
deletion |
Cobalamin C disease [RCV003470152] |
Chr1:45508817..45508827 [GRCh38]
Chr1:45974489..45974499 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.634del (p.Gln212fs) |
deletion |
Cobalamin C disease [RCV003470155] |
Chr1:45508997 [GRCh38]
Chr1:45974669 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.675_679del (p.Pro226fs) |
microsatellite |
Cobalamin C disease [RCV003461866] |
Chr1:45509035..45509039 [GRCh38]
Chr1:45974707..45974711 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.600del (p.Trp200fs) |
deletion |
Cobalamin C disease [RCV003470145] |
Chr1:45508965 [GRCh38]
Chr1:45974637 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.452A>G (p.His151Arg) |
single nucleotide variant |
Cobalamin C disease [RCV003470147] |
Chr1:45508818 [GRCh38]
Chr1:45974490 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp) |
single nucleotide variant |
Cobalamin C disease [RCV003389274] |
Chr1:45508850 [GRCh38]
Chr1:45974522 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.157C>T (p.Leu53Phe) |
single nucleotide variant |
MMACHC-related disorder [RCV003417085] |
Chr1:45507431 [GRCh38]
Chr1:45973103 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| Single allele |
inversion |
Bilateral polymicrogyria [RCV003459046] |
Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3 |
likely pathogenic |
| NM_015506.3(MMACHC):c.30G>A (p.Gln10=) |
single nucleotide variant |
Cobalamin C disease [RCV003602326] |
Chr1:45500362 [GRCh38]
Chr1:45966034 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-4C>T |
single nucleotide variant |
Cobalamin C disease [RCV003495760] |
Chr1:45508208 [GRCh38]
Chr1:45973880 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_181697.3(PRDX1):c.551del (p.Ile184fs) |
deletion |
not provided [RCV003577099] |
Chr1:45511378 [GRCh38]
Chr1:45977050 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.640dup (p.Arg214fs) |
duplication |
Cobalamin C disease [RCV003600260] |
Chr1:45509005..45509006 [GRCh38]
Chr1:45974677..45974678 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.54T>C (p.Pro18=) |
single nucleotide variant |
Cobalamin C disease [RCV003600013] |
Chr1:45500386 [GRCh38]
Chr1:45966058 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.281_290del (p.Leu94fs) |
deletion |
Cobalamin C disease [RCV003600040] |
Chr1:45508216..45508225 [GRCh38]
Chr1:45973888..45973897 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.312C>T (p.Asp104=) |
single nucleotide variant |
Cobalamin C disease [RCV003601424] |
Chr1:45508247 [GRCh38]
Chr1:45973919 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-20T>C |
single nucleotide variant |
Cobalamin C disease [RCV003600160] |
Chr1:45508192 [GRCh38]
Chr1:45973864 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.430-11C>T |
single nucleotide variant |
Cobalamin C disease [RCV003600502] |
Chr1:45508785 [GRCh38]
Chr1:45974457 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser) |
single nucleotide variant |
Cobalamin C disease [RCV003486153] |
Chr1:45500384 [GRCh38]
Chr1:45966056 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.165G>T (p.Thr55=) |
single nucleotide variant |
Cobalamin C disease [RCV003600140] |
Chr1:45507439 [GRCh38]
Chr1:45973111 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.36del (p.Ile12fs) |
deletion |
Cobalamin C disease [RCV003601751] |
Chr1:45500368 [GRCh38]
Chr1:45966040 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.276+2del |
deletion |
Cobalamin C disease [RCV003602188] |
Chr1:45507552 [GRCh38]
Chr1:45973224 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter) |
single nucleotide variant |
Cobalamin C disease [RCV003496556] |
Chr1:45507367 [GRCh38]
Chr1:45973039 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.276+20C>T |
single nucleotide variant |
Cobalamin C disease [RCV003601135] |
Chr1:45507570 [GRCh38]
Chr1:45973242 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.264C>T (p.Gly88=) |
single nucleotide variant |
Cobalamin C disease [RCV003601385] |
Chr1:45507538 [GRCh38]
Chr1:45973210 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.82-18C>T |
single nucleotide variant |
Cobalamin C disease [RCV003601348] |
Chr1:45507338 [GRCh38]
Chr1:45973010 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.618G>A (p.Arg206=) |
single nucleotide variant |
Cobalamin C disease [RCV003602061] |
Chr1:45508984 [GRCh38]
Chr1:45974656 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.848G>A (p.Ter283=) |
single nucleotide variant |
Cobalamin C disease [RCV003496257] |
Chr1:45509214 [GRCh38]
Chr1:45974886 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.360A>C (p.Ala120=) |
single nucleotide variant |
Cobalamin C disease [RCV003600051] |
Chr1:45508295 [GRCh38]
Chr1:45973967 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.276+13_276+14del |
deletion |
Cobalamin C disease [RCV003494924] |
Chr1:45507563..45507564 [GRCh38]
Chr1:45973235..45973236 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.82-2A>G |
single nucleotide variant |
Cobalamin C disease [RCV003600315] |
Chr1:45507354 [GRCh38]
Chr1:45973026 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.630A>C (p.Thr210=) |
single nucleotide variant |
Cobalamin C disease [RCV003601006] |
Chr1:45508996 [GRCh38]
Chr1:45974668 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly) |
inversion |
Cobalamin C disease [RCV003600328] |
Chr1:45509176..45509177 [GRCh38]
Chr1:45974848..45974849 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.75C>T (p.Pro25=) |
single nucleotide variant |
Cobalamin C disease [RCV003600545] |
Chr1:45500407 [GRCh38]
Chr1:45966079 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.82-7G>A |
single nucleotide variant |
Cobalamin C disease [RCV003600589] |
Chr1:45507349 [GRCh38]
Chr1:45973021 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+13C>G |
single nucleotide variant |
Cobalamin C disease [RCV003602044] |
Chr1:45500426 [GRCh38]
Chr1:45966098 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_001330540.2(MMACHC):c.-90del |
deletion |
Cobalamin C disease [RCV003601276] |
Chr1:45507355 [GRCh38]
Chr1:45973027 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.429+13del |
deletion |
Cobalamin C disease [RCV003600694] |
Chr1:45508374 [GRCh38]
Chr1:45974046 [GRCh37]
Chr1:1p34.1 |
benign |
| NM_015506.3(MMACHC):c.54T>A (p.Pro18=) |
single nucleotide variant |
Cobalamin C disease [RCV003601819] |
Chr1:45500386 [GRCh38]
Chr1:45966058 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.846T>C (p.Pro282=) |
single nucleotide variant |
Cobalamin C disease [RCV003600045] |
Chr1:45509212 [GRCh38]
Chr1:45974884 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter) |
duplication |
Cobalamin C disease [RCV003601642] |
Chr1:45508979..45508980 [GRCh38]
Chr1:45974651..45974652 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.81+17T>C |
single nucleotide variant |
Cobalamin C disease [RCV003601281] |
Chr1:45500430 [GRCh38]
Chr1:45966102 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.27G>A (p.Lys9=) |
single nucleotide variant |
Cobalamin C disease [RCV003600280] |
Chr1:45500359 [GRCh38]
Chr1:45966031 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-14G>A |
single nucleotide variant |
Cobalamin C disease [RCV003601286] |
Chr1:45508198 [GRCh38]
Chr1:45973870 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+14T>C |
single nucleotide variant |
Cobalamin C disease [RCV003600326] |
Chr1:45508378 [GRCh38]
Chr1:45974050 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.549A>C (p.Val183=) |
single nucleotide variant |
Cobalamin C disease [RCV003602399] |
Chr1:45508915 [GRCh38]
Chr1:45974587 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.120C>T (p.His40=) |
single nucleotide variant |
Cobalamin C disease [RCV003599866] |
Chr1:45507394 [GRCh38]
Chr1:45973066 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+11C>A |
single nucleotide variant |
Cobalamin C disease [RCV003601775] |
Chr1:45500424 [GRCh38]
Chr1:45966096 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.276+13C>T |
single nucleotide variant |
Cobalamin C disease [RCV003601318] |
Chr1:45507563 [GRCh38]
Chr1:45973235 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.678A>C (p.Pro226=) |
single nucleotide variant |
Cobalamin C disease [RCV003496303] |
Chr1:45509044 [GRCh38]
Chr1:45974716 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.738C>A (p.Pro246=) |
single nucleotide variant |
Cobalamin C disease [RCV003600020] |
Chr1:45509104 [GRCh38]
Chr1:45974776 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs) |
duplication |
Cobalamin C disease [RCV003600026] |
Chr1:45508812..45508813 [GRCh38]
Chr1:45974484..45974485 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.372T>C (p.Ala124=) |
single nucleotide variant |
Cobalamin C disease [RCV003601012] |
Chr1:45508307 [GRCh38]
Chr1:45973979 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-17_277-16insA |
insertion |
Cobalamin C disease [RCV003496360] |
Chr1:45508195..45508196 [GRCh38]
Chr1:45973867..45973868 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.46C>T (p.Leu16=) |
single nucleotide variant |
Cobalamin C disease [RCV003600576] |
Chr1:45500378 [GRCh38]
Chr1:45966050 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.430-12C>T |
single nucleotide variant |
Cobalamin C disease [RCV003601041] |
Chr1:45508784 [GRCh38]
Chr1:45974456 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.82-16G>C |
single nucleotide variant |
Cobalamin C disease [RCV003601958] |
Chr1:45507340 [GRCh38]
Chr1:45973012 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+13C>T |
single nucleotide variant |
Cobalamin C disease [RCV003601959] |
Chr1:45500426 [GRCh38]
Chr1:45966098 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.36C>T (p.Ile12=) |
single nucleotide variant |
Cobalamin C disease [RCV003601682] |
Chr1:45500368 [GRCh38]
Chr1:45966040 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.82-8T>C |
single nucleotide variant |
Cobalamin C disease [RCV003602542] |
Chr1:45507348 [GRCh38]
Chr1:45973020 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.708G>A (p.Leu236=) |
single nucleotide variant |
Cobalamin C disease [RCV003495918] |
Chr1:45509074 [GRCh38]
Chr1:45974746 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-13T>C |
single nucleotide variant |
Cobalamin C disease [RCV003600735] |
Chr1:45508199 [GRCh38]
Chr1:45973871 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.277-9C>T |
single nucleotide variant |
Cobalamin C disease [RCV003602327] |
Chr1:45508203 [GRCh38]
Chr1:45973875 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+1G>C |
single nucleotide variant |
Cobalamin C disease [RCV003486326] |
Chr1:45500414 [GRCh38]
Chr1:45966086 [GRCh37]
Chr1:1p34.1 |
pathogenic|likely pathogenic |
| NM_015506.3(MMACHC):c.771C>T (p.Pro257=) |
single nucleotide variant |
Cobalamin C disease [RCV003495511] |
Chr1:45509137 [GRCh38]
Chr1:45974809 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.126_141del (p.Leu43fs) |
deletion |
Cobalamin C disease [RCV003494629] |
Chr1:45507393..45507408 [GRCh38]
Chr1:45973065..45973080 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.277-1G>A |
single nucleotide variant |
Cobalamin C disease [RCV003496347] |
Chr1:45508211 [GRCh38]
Chr1:45973883 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.429+20T>G |
single nucleotide variant |
Cobalamin C disease [RCV003495720] |
Chr1:45508384 [GRCh38]
Chr1:45974056 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.81+15C>T |
single nucleotide variant |
Cobalamin C disease [RCV003495855] |
Chr1:45500428 [GRCh38]
Chr1:45966100 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.429+12A>C |
single nucleotide variant |
Cobalamin C disease [RCV003496903] |
Chr1:45508376 [GRCh38]
Chr1:45974048 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.430-13A>T |
single nucleotide variant |
Cobalamin C disease [RCV003497248] |
Chr1:45508783 [GRCh38]
Chr1:45974455 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.405G>A (p.Val135=) |
single nucleotide variant |
Cobalamin C disease [RCV003811632] |
Chr1:45508340 [GRCh38]
Chr1:45974012 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.153G>A (p.Leu51=) |
single nucleotide variant |
Cobalamin C disease [RCV003497282] |
Chr1:45507427 [GRCh38]
Chr1:45973099 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.9G>A (p.Pro3=) |
single nucleotide variant |
Cobalamin C disease [RCV003497109] |
Chr1:45500341 [GRCh38]
Chr1:45966013 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.571G>A (p.Ala191Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004512010] |
Chr1:45508937 [GRCh38]
Chr1:45974609 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.276+17T>C |
single nucleotide variant |
Cobalamin C disease [RCV003817172] |
Chr1:45507567 [GRCh38]
Chr1:45973239 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Cobalamin C disease [RCV003497071] |
Chr1:45500333 [GRCh38]
Chr1:45966005 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| GRCh37/hg19 1p34.1(chr1:45857175-46077062)x3 |
copy number gain |
not specified [RCV003986850] |
Chr1:45857175..46077062 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.486G>A (p.Gly162=) |
single nucleotide variant |
Cobalamin C disease [RCV003862959] |
Chr1:45508852 [GRCh38]
Chr1:45974524 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.498G>A (p.Leu166=) |
single nucleotide variant |
Cobalamin C disease [RCV003867304] |
Chr1:45508864 [GRCh38]
Chr1:45974536 [GRCh37]
Chr1:1p34.1 |
likely benign |
| NM_015506.3(MMACHC):c.569T>G (p.Ile190Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004511987] |
Chr1:45508935 [GRCh38]
Chr1:45974607 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.83T>C (p.Val28Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004514414] |
Chr1:45507357 [GRCh38]
Chr1:45973029 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.338C>G (p.Pro113Arg) |
single nucleotide variant |
not specified [RCV004597542] |
Chr1:45508273 [GRCh38]
Chr1:45973945 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.455_457del (p.Pro152del) |
deletion |
Cobalamin C disease [RCV004576191] |
Chr1:45508819..45508821 [GRCh38]
Chr1:45974491..45974493 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.430-1G>A |
single nucleotide variant |
Cobalamin C disease [RCV004576192] |
Chr1:45508795 [GRCh38]
Chr1:45974467 [GRCh37]
Chr1:1p34.1 |
likely pathogenic |
| NM_015506.3(MMACHC):c.704del (p.Gly235fs) |
deletion |
Cobalamin C disease [RCV004576193] |
Chr1:45509068 [GRCh38]
Chr1:45974740 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter) |
single nucleotide variant |
Cobalamin C disease [RCV004576194] |
Chr1:45509078 [GRCh38]
Chr1:45974750 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
| NC_000001.10:g.(?_45973008)_(45977106_?)del |
deletion |
Cobalamin C disease [RCV004584032] |
Chr1:45973008..45977106 [GRCh37]
Chr1:1p34.1 |
pathogenic |
| NM_015506.3(MMACHC):c.322C>T (p.His108Tyr) |
single nucleotide variant |
not provided [RCV004769538] |
Chr1:45508257 [GRCh38]
Chr1:45973929 [GRCh37]
Chr1:1p34.1 |
uncertain significance |
