| MTRR, 4-BP DEL, NT1675 |
deletion |
Methylcobalamin deficiency type cblE [RCV000007442] |
Chr5:5p15.3-p15.2 |
pathogenic |
| NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) |
microsatellite |
Methylcobalamin deficiency type cblE [RCV000007443] |
Chr5:7896912..7896914 [GRCh38]
Chr5:7897025..7897027 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) |
duplication |
Methylcobalamin deficiency type cblE [RCV000007447] |
Chr5:7895796..7895797 [GRCh38]
Chr5:7895909..7895910 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| MTRR, 140-BP INS, NT903 |
insertion |
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type [RCV000007448] |
Chr5:5p15.3-p15.2 |
pathogenic |
| NM_002454.3(MTRR):c.66A>G (p.Ile22Met) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000264714]|Down syndrome, susceptibility to [RCV000007445]|Gastrointestinal stromal tumor [RCV000144926]|Methotrexate response [RCV003482129]|Methylcobalamin deficiency type cblE [RCV001274255]|Neural tube defects, folate-sensitive, susceptibility to [RCV000007444]|not specified [RCV000126873] |
Chr5:7870860 [GRCh38]
Chr5:7870973 [GRCh37]
Chr5:5p15.31 |
risk factor|benign|drug response|uncertain significance |
| NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000210727]|Methylcobalamin deficiency type cblE [RCV000007446]|Neural tube defects, folate-sensitive [RCV003460433] |
Chr5:7892815 [GRCh38]
Chr5:7892928 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV002512874]|Methylcobalamin deficiency type cblE [RCV000007449]|Neural tube defects, folate-sensitive [RCV003460434]|not provided [RCV000757493] |
Chr5:7891405 [GRCh38]
Chr5:7891518 [GRCh37]
Chr5:5p15.31 |
pathogenic|not provided |
| GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000050295] |
Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 |
copy number gain |
See cases [RCV000051811] |
Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 |
copy number gain |
See cases [RCV000051808] |
Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 |
copy number gain |
See cases [RCV000051809] |
Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 |
copy number gain |
See cases [RCV000051810] |
Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 |
copy number loss |
See cases [RCV000053398] |
Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 |
copy number loss |
See cases [RCV000053399] |
Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] |
Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 |
copy number loss |
See cases [RCV000053416] |
Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] |
Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 |
copy number loss |
See cases [RCV000053419] |
Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 |
copy number loss |
See cases [RCV000053422] |
Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 |
copy number loss |
See cases [RCV000053424] |
Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] |
Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 |
copy number loss |
See cases [RCV000053446] |
Chr5:2180761..17602433 [GRCh38]
Chr5:2180875..17602542 [GRCh37]
Chr5:2233875..17645646 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_002454.3(MTRR):c.1952+14G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617921]|not provided [RCV001812469] |
Chr5:7897261 [GRCh38]
Chr5:7897374 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000317483]|Gastrointestinal stromal tumor [RCV000144925]|Methylcobalamin deficiency type cblE [RCV001274260]|not specified [RCV000126870] |
Chr5:7885846 [GRCh38]
Chr5:7885959 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.1155G>A (p.Leu385=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000330357]|Methylcobalamin deficiency type cblE [RCV001513871]|Methylcobalamin deficiency type cblE [RCV002498623]|not specified [RCV000126871] |
Chr5:7889103 [GRCh38]
Chr5:7889216 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000295321]|Methylcobalamin deficiency type cblE [RCV001274261]|not specified [RCV000126872] |
Chr5:7889191 [GRCh38]
Chr5:7889304 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000382140]|Methylcobalamin deficiency type cblE [RCV001274262]|not specified [RCV000126874] |
Chr5:7891393 [GRCh38]
Chr5:7891506 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1370+19G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001519467]|not provided [RCV001812070]|not specified [RCV000126875] |
Chr5:7891433 [GRCh38]
Chr5:7891546 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1464A>G (p.Val488=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001153940]|Methylcobalamin deficiency type cblE [RCV000531884]|not provided [RCV001812071]|not specified [RCV000126876] |
Chr5:7892820 [GRCh38]
Chr5:7892933 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1536C>T (p.Ser512=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001153942]|Methylcobalamin deficiency type cblE [RCV000543920]|not provided [RCV001812072]|not specified [RCV000126877] |
Chr5:7892892 [GRCh38]
Chr5:7893005 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1676+20A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001520000]|not specified [RCV000126878] |
Chr5:7895872 [GRCh38]
Chr5:7895985 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000391719]|Methylcobalamin deficiency type cblE [RCV000532701]|not provided [RCV001812073]|not specified [RCV000126879] |
Chr5:7896948 [GRCh38]
Chr5:7897061 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000302798]|Gastrointestinal stromal tumor [RCV000144924]|Methylcobalamin deficiency type cblE [RCV001274263]|not provided [RCV001812074]|not specified [RCV000126880] |
Chr5:7897078 [GRCh38]
Chr5:7897191 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.1875G>A (p.Val625=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000341345]|Methylcobalamin deficiency type cblE [RCV001274264]|not specified [RCV000126881] |
Chr5:7897170 [GRCh38]
Chr5:7897283 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1911G>A (p.Ala637=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000390684]|Methylcobalamin deficiency type cblE [RCV001276259]|not specified [RCV000126882] |
Chr5:7897206 [GRCh38]
Chr5:7897319 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.2(MTRR):c.-119T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000362823]|Methylcobalamin deficiency type cblE [RCV001530449]|not specified [RCV000126883] |
Chr5:7869122 [GRCh38]
Chr5:7869235 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000405120]|Gastrointestinal stromal tumor [RCV000144927]|Methylcobalamin deficiency type cblE [RCV001274256]|not specified [RCV000126884] |
Chr5:7878066 [GRCh38]
Chr5:7878179 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.537T>C (p.Leu179=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000307309]|Methylcobalamin deficiency type cblE [RCV001274257]|not specified [RCV000126885] |
Chr5:7878079 [GRCh38]
Chr5:7878192 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000266246]|Methylcobalamin deficiency type cblE [RCV000557291]|not specified [RCV000126886] |
Chr5:7878311 [GRCh38]
Chr5:7878424 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 |
copy number loss |
See cases [RCV001310287] |
Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 |
copy number gain |
See cases [RCV000133788] |
Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 |
copy number loss |
See cases [RCV000133796] |
Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 |
copy number loss |
See cases [RCV000515550] |
Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003165362]|Methylcobalamin deficiency type cblE [RCV001248675]|not provided [RCV000174876] |
Chr5:7900032 [GRCh38]
Chr5:7900145 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 |
copy number loss |
See cases [RCV000133768] |
Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 |
copy number loss |
See cases [RCV000134873] |
Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 |
copy number loss |
See cases [RCV000135668] |
Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 |
copy number loss |
See cases [RCV000135878] |
Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 |
copy number gain |
See cases [RCV000135453] |
Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 |
copy number loss |
See cases [RCV000136556] |
Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3 |
copy number gain |
See cases [RCV000136901] |
Chr5:1544285..8681441 [GRCh38]
Chr5:1544400..8681553 [GRCh37]
Chr5:1597400..8734553 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 |
copy number loss |
See cases [RCV000137072] |
Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 |
copy number gain |
See cases [RCV000136943] |
Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.31(chr5:7701344-8275266)x3 |
copy number gain |
See cases [RCV000136654] |
Chr5:7701344..8275266 [GRCh38]
Chr5:7701457..8275379 [GRCh37]
Chr5:7754457..8328379 [NCBI36]
Chr5:5p15.31 |
uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 |
copy number gain |
See cases [RCV000137682] |
Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic|uncertain significance |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 |
copy number loss |
See cases [RCV000137165] |
Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 |
copy number loss |
See cases [RCV000138116] |
Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 |
copy number loss |
See cases [RCV000138099] |
Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 |
copy number loss |
See cases [RCV000137884] |
Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 |
copy number loss |
See cases [RCV000137915] |
Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 |
copy number gain |
See cases [RCV000137806] |
Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 |
copy number loss |
See cases [RCV000138888] |
Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 |
copy number loss |
See cases [RCV000138553] |
Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 |
copy number loss |
See cases [RCV000138288] |
Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1 |
likely benign |
| GRCh38/hg38 5p15.31(chr5:7634264-8158777)x3 |
copy number gain |
See cases [RCV000139431] |
Chr5:7634264..8158777 [GRCh38]
Chr5:7634377..8158890 [GRCh37]
Chr5:7687377..8211890 [NCBI36]
Chr5:5p15.31 |
uncertain significance |
| GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1 |
copy number loss |
See cases [RCV000139904] |
Chr5:7670933..13623997 [GRCh38]
Chr5:7671046..13624106 [GRCh37]
Chr5:7724046..13677106 [NCBI36]
Chr5:5p15.31-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 |
copy number loss |
See cases [RCV000141225] |
Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 |
copy number gain |
See cases [RCV000141246] |
Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 |
copy number loss |
See cases [RCV000140964] |
Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 |
copy number loss |
See cases [RCV000141930] |
Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 |
copy number loss |
See cases [RCV000141844] |
Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 |
copy number loss |
See cases [RCV000141795] |
Chr5:4932707..18465361 [GRCh38]
Chr5:4932820..18465470 [GRCh37]
Chr5:4985820..18501227 [NCBI36]
Chr5:5p15.32-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 |
copy number loss |
See cases [RCV000142183] |
Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 |
copy number loss |
See cases [RCV000143022] |
Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 |
copy number loss |
See cases [RCV000142934] |
Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 |
copy number loss |
See cases [RCV000142645] |
Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000148250] |
Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001068078]|Methylcobalamin deficiency type cblE [RCV002500959]|Neural tube defects, folate-sensitive [RCV003469197]|not provided [RCV000254795] |
Chr5:7895749 [GRCh38]
Chr5:7895862 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1653G>A (p.Pro551=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000347256]|Methylcobalamin deficiency type cblE [RCV000551951]|not provided [RCV001812181]|not specified [RCV000186040] |
Chr5:7895829 [GRCh38]
Chr5:7895942 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.1982A>G (p.His661Arg) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000296913]|MTRR-related condition [RCV003927727]|Methylcobalamin deficiency type cblE [RCV001083593]|not provided [RCV000514325] |
Chr5:7899943 [GRCh38]
Chr5:7900056 [GRCh37]
Chr5:5p15.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) |
deletion |
Disorders of Intracellular Cobalamin Metabolism [RCV000374314]|Methylcobalamin deficiency type cblE [RCV001080399]|not provided [RCV000766293]|not specified [RCV000186042] |
Chr5:7886647..7886649 [GRCh38]
Chr5:7886760..7886762 [GRCh37]
Chr5:5p15.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002454.3(MTRR):c.*64T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000262041] |
Chr5:7900122 [GRCh38]
Chr5:7900235 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.997C>G (p.Leu333Val) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000259869]|Methylcobalamin deficiency type cblE [RCV001274259]|not provided [RCV000440270]|not specified [RCV000427790] |
Chr5:7885794 [GRCh38]
Chr5:7885907 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 |
copy number loss |
See cases [RCV000240157] |
Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3 |
likely pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 |
copy number loss |
See cases [RCV000449075] |
Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.209G>A (p.Arg70His) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152553]|Methylcobalamin deficiency type cblE [RCV000545313] |
Chr5:7873452 [GRCh38]
Chr5:7873565 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 |
copy number gain |
not provided [RCV000234904] |
Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_002454.3(MTRR):c.607G>T (p.Asp203Tyr) |
single nucleotide variant |
not provided [RCV000757494] |
Chr5:7878149 [GRCh38]
Chr5:7878262 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000625774] |
Chr5:7892735 [GRCh38]
Chr5:7892848 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 |
copy number gain |
See cases [RCV000240016] |
Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| NM_002454.3(MTRR):c.378T>C (p.Thr126=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000280563]|Methylcobalamin deficiency type cblE [RCV001463592] |
Chr5:7875352 [GRCh38]
Chr5:7875465 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.-26+11T>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000270541] |
Chr5:7869226 [GRCh38]
Chr5:7869339 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 |
copy number loss |
See cases [RCV000240389] |
Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_002454.3(MTRR):c.*427T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000332469] |
Chr5:7900485 [GRCh38]
Chr5:7900598 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.371A>G (p.Tyr124Cys) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000373506] |
Chr5:7875345 [GRCh38]
Chr5:7875458 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000322148]|Inborn genetic diseases [RCV003168548]|Methylcobalamin deficiency type cblE [RCV000811882] |
Chr5:7873451 [GRCh38]
Chr5:7873564 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*626C>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000269129] |
Chr5:7900684 [GRCh38]
Chr5:7900797 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.2(MTRR):c.*1058A>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000285355] |
Chr5:7901116 [GRCh38]
Chr5:7901229 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.540G>A (p.Val180=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000345758]|Methylcobalamin deficiency type cblE [RCV000873170]|not specified [RCV000426843] |
Chr5:7878082 [GRCh38]
Chr5:7878195 [GRCh37]
Chr5:5p15.31 |
benign|likely benign|uncertain significance |
| NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000316476]|Methylcobalamin deficiency type cblE [RCV001247404]|not provided [RCV003311778] |
Chr5:7875320 [GRCh38]
Chr5:7875433 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.2021T>C (p.Val674Ala) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000354530]|Inborn genetic diseases [RCV002524456]|Methylcobalamin deficiency type cblE [RCV002520387] |
Chr5:7899982 [GRCh38]
Chr5:7900095 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*826del |
deletion |
Disorders of Intracellular Cobalamin Metabolism [RCV000377992] |
Chr5:7900884 [GRCh38]
Chr5:7900997 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.210C>G (p.Arg70=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000379192]|Methylcobalamin deficiency type cblE [RCV000642246]|not provided [RCV001705519]|not specified [RCV000427337] |
Chr5:7873453 [GRCh38]
Chr5:7873566 [GRCh37]
Chr5:5p15.31 |
benign|likely benign|uncertain significance |
| NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000304993]|Inborn genetic diseases [RCV002520386]|Methylcobalamin deficiency type cblE [RCV000642243]|not provided [RCV001591019] |
Chr5:7883243 [GRCh38]
Chr5:7883356 [GRCh37]
Chr5:5p15.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002454.3(MTRR):c.383A>G (p.His128Arg) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000337918]|Methylcobalamin deficiency type cblE [RCV001850873] |
Chr5:7875357 [GRCh38]
Chr5:7875470 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.283+13C>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000287116]|Methylcobalamin deficiency type cblE [RCV003507274] |
Chr5:7873539 [GRCh38]
Chr5:7873652 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.1472G>A (p.Gly491Asp) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000289989]|Inborn genetic diseases [RCV002523534] |
Chr5:7892828 [GRCh38]
Chr5:7892941 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.-26+14C>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000327848]|not provided [RCV000839033] |
Chr5:7869229 [GRCh38]
Chr5:7869342 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.505G>A (p.Val169Met) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000350585]|Methylcobalamin deficiency type cblE [RCV001245377]|Methylcobalamin deficiency type cblE [RCV002487550] |
Chr5:7878047 [GRCh38]
Chr5:7878160 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.2(MTRR):c.*1059T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000340298] |
Chr5:7901117 [GRCh38]
Chr5:7901230 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.*686G>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000291703] |
Chr5:7900744 [GRCh38]
Chr5:7900857 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.689G>A (p.Arg230His) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000310859] |
Chr5:7878231 [GRCh38]
Chr5:7878344 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*662T>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000383687] |
Chr5:7900720 [GRCh38]
Chr5:7900833 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.*541G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000389294] |
Chr5:7900599 [GRCh38]
Chr5:7900712 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000358385]|MTRR-related condition [RCV003957826]|Methylcobalamin deficiency type cblE [RCV000872621]|Methylcobalamin deficiency type cblE [RCV002488786] |
Chr5:7878281 [GRCh38]
Chr5:7878394 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.*644A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000326710] |
Chr5:7900702 [GRCh38]
Chr5:7900815 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.*222A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000367317] |
Chr5:7900280 [GRCh38]
Chr5:7900393 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000387179]|Methylcobalamin deficiency type cblE [RCV000816569]|not provided [RCV001200466] |
Chr5:7889130 [GRCh38]
Chr5:7889243 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*907T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000391849] |
Chr5:7900965 [GRCh38]
Chr5:7901078 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.423G>A (p.Pro141=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000392277]|Methylcobalamin deficiency type cblE [RCV001426231] |
Chr5:7877965 [GRCh38]
Chr5:7878078 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.876C>T (p.Thr292=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000361954]|Methylcobalamin deficiency type cblE [RCV000871996]|not specified [RCV000417724] |
Chr5:7883250 [GRCh38]
Chr5:7883363 [GRCh37]
Chr5:5p15.31 |
benign|likely benign|uncertain significance |
| NM_002454.3(MTRR):c.6G>A (p.Arg2=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000366229]|Methylcobalamin deficiency type cblE [RCV003766037] |
Chr5:7870800 [GRCh38]
Chr5:7870913 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.*167A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000300918]|not provided [RCV001574415] |
Chr5:7900225 [GRCh38]
Chr5:7900338 [GRCh37]
Chr5:5p15.31 |
benign|likely benign|uncertain significance |
| NM_002454.3(MTRR):c.1138C>A (p.Pro380Thr) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000263413] |
Chr5:7886695 [GRCh38]
Chr5:7886808 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*264del |
deletion |
Disorders of Intracellular Cobalamin Metabolism [RCV000275057] |
Chr5:7900321 [GRCh38]
Chr5:7900434 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) |
copy number loss |
5p partial monosomy syndrome [RCV002280774] |
Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_002454.3(MTRR):c.-26+8G>C |
single nucleotide variant |
not specified [RCV000606682] |
Chr5:7869223 [GRCh38]
Chr5:7869336 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.487A>G (p.Ile163Val) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000293426]|Methylcobalamin deficiency type cblE [RCV001861264] |
Chr5:7878029 [GRCh38]
Chr5:7878142 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.687C>T (p.Thr229=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000405533] |
Chr5:7878229 [GRCh38]
Chr5:7878342 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*853G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000285895] |
Chr5:7900911 [GRCh38]
Chr5:7901024 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1248T>C (p.Phe416=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000352544]|Methylcobalamin deficiency type cblE [RCV001465590] |
Chr5:7889196 [GRCh38]
Chr5:7889309 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.*709T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000339600] |
Chr5:7900767 [GRCh38]
Chr5:7900880 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*884T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000343216] |
Chr5:7900942 [GRCh38]
Chr5:7901055 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.2(MTRR):c.-135A>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV000313694] |
Chr5:7869106 [GRCh38]
Chr5:7869219 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*222A>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152771] |
Chr5:7900280 [GRCh38]
Chr5:7900393 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.186C>T (p.Thr62=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001474810]|not specified [RCV000601370] |
Chr5:7873429 [GRCh38]
Chr5:7873542 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) |
copy number loss |
5p partial monosomy syndrome [RCV000767710] |
Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1370+18C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001417863]|not specified [RCV000604860] |
Chr5:7891432 [GRCh38]
Chr5:7891545 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001834982]|Neural tube defects, folate-sensitive [RCV003465365]|not provided [RCV000627375] |
Chr5:7897075 [GRCh38]
Chr5:7897188 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.1327+158A>G |
single nucleotide variant |
not provided [RCV001572158] |
Chr5:7889433 [GRCh38]
Chr5:7889546 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 |
copy number loss |
See cases [RCV000449097] |
Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 |
copy number gain |
See cases [RCV000449100] |
Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 |
copy number gain |
See cases [RCV000446077] |
Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 |
copy number loss |
See cases [RCV000447672] |
Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 |
copy number loss |
See cases [RCV000446974] |
Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 |
copy number loss |
See cases [RCV000447483] |
Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 |
copy number loss |
See cases [RCV000446645] |
Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 |
copy number loss |
See cases [RCV000446054] |
Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 |
copy number gain |
See cases [RCV000447632] |
Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 |
copy number loss |
See cases [RCV000447462] |
Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_002454.3(MTRR):c.1641C>T (p.Thr547=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001407435]|not specified [RCV000420589] |
Chr5:7895817 [GRCh38]
Chr5:7895930 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1575A>C (p.Arg525=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001501097]|not specified [RCV000434740] |
Chr5:7895751 [GRCh38]
Chr5:7895864 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1006A>G (p.Lys336Glu) |
single nucleotide variant |
not specified [RCV000441913] |
Chr5:7885803 [GRCh38]
Chr5:7885916 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_002454.3(MTRR):c.1086G>A (p.Ala362=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001835804]|not provided [RCV000418048] |
Chr5:7886643 [GRCh38]
Chr5:7886756 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154798]|MTRR-related condition [RCV003902581]|Methylcobalamin deficiency type cblE [RCV000872119]|not specified [RCV000441957] |
Chr5:7897114 [GRCh38]
Chr5:7897227 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 |
copy number loss |
See cases [RCV000445859] |
Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.446C>T (p.Ala149Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001081253]|not provided [RCV000435077] |
Chr5:7877988 [GRCh38]
Chr5:7878101 [GRCh37]
Chr5:5p15.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002454.3(MTRR):c.828G>A (p.Val276=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000642244]|not specified [RCV000425104] |
Chr5:7883202 [GRCh38]
Chr5:7883315 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.780+20T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002063372]|not specified [RCV000428694] |
Chr5:7878342 [GRCh38]
Chr5:7878455 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.781-4C>G |
single nucleotide variant |
not specified [RCV000442693] |
Chr5:7883151 [GRCh38]
Chr5:7883264 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1875G>T (p.Val625=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154800]|Methylcobalamin deficiency type cblE [RCV000967692]|not specified [RCV000421671] |
Chr5:7897170 [GRCh38]
Chr5:7897283 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.288C>T (p.Leu96=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152557]|MTRR-related condition [RCV003959900]|Methylcobalamin deficiency type cblE [RCV001083208]|not provided [RCV000757491]|not specified [RCV000428864] |
Chr5:7875262 [GRCh38]
Chr5:7875375 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1544C>T (p.Ala515Val) |
single nucleotide variant |
MTRR-related condition [RCV003959958]|Methylcobalamin deficiency type cblE [RCV000872900]|not provided [RCV001721331] |
Chr5:7892900 [GRCh38]
Chr5:7893013 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.177C>G (p.Thr59=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158030]|Methylcobalamin deficiency type cblE [RCV000871367]|not specified [RCV000439395] |
Chr5:7873420 [GRCh38]
Chr5:7873533 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.781-14A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002062559]|not specified [RCV000425458] |
Chr5:7883141 [GRCh38]
Chr5:7883254 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.144C>T (p.Thr48=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000872422]|not specified [RCV000443203] |
Chr5:7873387 [GRCh38]
Chr5:7873500 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1188T>C (p.Ala396=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000942121]|not specified [RCV000419626] |
Chr5:7889136 [GRCh38]
Chr5:7889249 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1326C>T (p.Leu442=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152666]|Methylcobalamin deficiency type cblE [RCV000865444]|Methylcobalamin deficiency type cblE [RCV002488910]|not provided [RCV003437174]|not specified [RCV000443353] |
Chr5:7889274 [GRCh38]
Chr5:7889387 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1020C>T (p.Cys340=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158135]|Methylcobalamin deficiency type cblE [RCV000912640]|not provided [RCV003437164]|not specified [RCV000437546] |
Chr5:7885817 [GRCh38]
Chr5:7885930 [GRCh37]
Chr5:5p15.31 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 |
copy number loss |
See cases [RCV000448019] |
Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 |
copy number loss |
See cases [RCV000448521] |
Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.31(chr5:7198626-8305678) |
copy number gain |
Abnormal esophagus morphology [RCV000416714] |
Chr5:7198626..8305678 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 |
copy number loss |
See cases [RCV000448408] |
Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 |
copy number loss |
See cases [RCV000447737] |
Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 |
copy number gain |
See cases [RCV000447969] |
Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 |
copy number loss |
See cases [RCV000512066] |
Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 |
copy number loss |
See cases [RCV000510193] |
Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 |
copy number loss |
See cases [RCV000511494] |
Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 |
copy number loss |
See cases [RCV000511513] |
Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001153941]|Methylcobalamin deficiency type cblE [RCV001083540]|not provided [RCV001532027] |
Chr5:7892824 [GRCh38]
Chr5:7892937 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_002454.2(MTRR):c.1090_1092delTGT (p.Cys364del) |
deletion |
not specified [RCV000507643] |
Chr5:7886647..7886649 [GRCh38]
Chr5:7886760..7886762 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 |
copy number loss |
See cases [RCV000510912] |
Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 |
copy number loss |
See cases [RCV000510921] |
Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 |
copy number loss |
See cases [RCV000510786] |
Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_002454.3(MTRR):c.13C>T (p.Leu5=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002064016]|not specified [RCV000600610] |
Chr5:7870807 [GRCh38]
Chr5:7870920 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.286C>G (p.Leu96Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003263665] |
Chr5:7875260 [GRCh38]
Chr5:7875373 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.129+16G>A |
single nucleotide variant |
not specified [RCV000602537] |
Chr5:7870939 [GRCh38]
Chr5:7871052 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002544667]|Methylcobalamin deficiency type cblE [RCV000642242] |
Chr5:7889194 [GRCh38]
Chr5:7889307 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.402-19G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002063244]|not specified [RCV000600639] |
Chr5:7877925 [GRCh38]
Chr5:7878038 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.463A>C (p.Arg155=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000871314]|not specified [RCV000610430] |
Chr5:7878005 [GRCh38]
Chr5:7878118 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.2052C>T (p.Ala684=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002063925]|not specified [RCV000608491] |
Chr5:7900013 [GRCh38]
Chr5:7900126 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.75A>G (p.Gln25=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002529638]|not specified [RCV000608630] |
Chr5:7870869 [GRCh38]
Chr5:7870982 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.-26+6C>G |
single nucleotide variant |
not specified [RCV000609244] |
Chr5:7869221 [GRCh38]
Chr5:7869334 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1058-17C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002531158]|not specified [RCV000614913] |
Chr5:7886598 [GRCh38]
Chr5:7886711 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-20_904-19insTC |
insertion |
Methylcobalamin deficiency type cblE [RCV001521221]|not provided [RCV001722549] |
Chr5:7885681..7885682 [GRCh38]
Chr5:7885794..7885795 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1057+8C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002531721]|not specified [RCV000605766] |
Chr5:7885862 [GRCh38]
Chr5:7885975 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 |
copy number gain |
See cases [RCV000512567] |
Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_002454.3(MTRR):c.1147-16G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002063891]|not specified [RCV000606365] |
Chr5:7889079 [GRCh38]
Chr5:7889192 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1165G>A (p.Val389Met) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000661941] |
Chr5:7889113 [GRCh38]
Chr5:7889226 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 |
copy number loss |
not provided [RCV000682513] |
Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 |
copy number loss |
not provided [RCV000682514] |
Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 |
copy number loss |
not provided [RCV000682515] |
Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 |
copy number gain |
not provided [RCV000682516] |
Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1 |
copy number loss |
not provided [RCV000682520] |
Chr5:5830053..19490899 [GRCh37]
Chr5:5p15.32-14.3 |
pathogenic |
| GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3 |
copy number gain |
not provided [RCV000682521] |
Chr5:5884444..14122539 [GRCh37]
Chr5:5p15.32-15.2 |
pathogenic |
| GRCh37/hg19 5p15.31(chr5:7831677-9214028)x3 |
copy number gain |
not provided [RCV000682523] |
Chr5:7831677..9214028 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158136]|Methylcobalamin deficiency type cblE [RCV000701704] |
Chr5:7885818 [GRCh38]
Chr5:7885931 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.832A>G (p.Ile278Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000691198] |
Chr5:7883206 [GRCh38]
Chr5:7883319 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1371-245A>G |
single nucleotide variant |
not provided [RCV001574578] |
Chr5:7892482 [GRCh38]
Chr5:7892595 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+67G>C |
single nucleotide variant |
not provided [RCV001546380] |
Chr5:7897314 [GRCh38]
Chr5:7897427 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_002454.3(MTRR):c.781-80G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001530451]|not provided [RCV001615242] |
Chr5:7883075 [GRCh38]
Chr5:7883188 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1557+54T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001530452]|not provided [RCV001713102] |
Chr5:7892967 [GRCh38]
Chr5:7893080 [GRCh37]
Chr5:5p15.31 |
benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 |
copy number loss |
not provided [RCV000744320] |
Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 |
copy number gain |
not provided [RCV000744321] |
Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 |
copy number loss |
not provided [RCV000744322] |
Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.166G>A (p.Val56Met) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001836441]|Methylcobalamin deficiency type cblE [RCV002501867]|Neural tube defects, folate-sensitive [RCV003470854]|not provided [RCV001532514] |
Chr5:7873409 [GRCh38]
Chr5:7873522 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.1371-196A>T |
single nucleotide variant |
not provided [RCV001724426] |
Chr5:7892531 [GRCh38]
Chr5:7892644 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.904-21_904-20dup |
duplication |
not provided [RCV001648358] |
Chr5:7885669..7885670 [GRCh38]
Chr5:7885782..7885783 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.283+279G>A |
single nucleotide variant |
not provided [RCV001681480] |
Chr5:7873805 [GRCh38]
Chr5:7873918 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1057+137T>C |
single nucleotide variant |
not provided [RCV001708371] |
Chr5:7885991 [GRCh38]
Chr5:7886104 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_024091.4(FASTKD3):c.629A>G (p.Lys210Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003244451] |
Chr5:7867455 [GRCh38]
Chr5:7867568 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001043620]|Methylcobalamin deficiency type cblE [RCV002481908]|Neural tube defects, folate-sensitive [RCV003461462]|not provided [RCV003442157] |
Chr5:7878308 [GRCh38]
Chr5:7878421 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.903+265G>A |
single nucleotide variant |
not provided [RCV001585613] |
Chr5:7883542 [GRCh38]
Chr5:7883655 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+4A>G |
single nucleotide variant |
not provided [RCV000998354] |
Chr5:7897251 [GRCh38]
Chr5:7897364 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1057+9C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000929196] |
Chr5:7885863 [GRCh38]
Chr5:7885976 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.81G>A (p.Val27=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002544968] |
Chr5:7870875 [GRCh38]
Chr5:7870988 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.399A>G (p.Val133=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000925232] |
Chr5:7875373 [GRCh38]
Chr5:7875486 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1566C>A (p.Ile522=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001429614] |
Chr5:7895742 [GRCh38]
Chr5:7895855 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.432T>G (p.Ala144=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000925815]|not provided [RCV003438593] |
Chr5:7877974 [GRCh38]
Chr5:7878087 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.507G>C (p.Val169=) |
single nucleotide variant |
MTRR-related condition [RCV003960462]|Methylcobalamin deficiency type cblE [RCV000927664] |
Chr5:7878049 [GRCh38]
Chr5:7878162 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1131A>C (p.Arg377=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000981048] |
Chr5:7886688 [GRCh38]
Chr5:7886801 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1080A>C (p.Ile360=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001455612] |
Chr5:7886637 [GRCh38]
Chr5:7886750 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.1375G>C (p.Glu459Gln) |
single nucleotide variant |
not provided [RCV000973367] |
Chr5:7866709 [GRCh38]
Chr5:7866822 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.401+10G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000944277] |
Chr5:7875385 [GRCh38]
Chr5:7875498 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.1296G>T (p.Leu432=) |
single nucleotide variant |
not provided [RCV000951257] |
Chr5:7866788 [GRCh38]
Chr5:7866901 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.277T>C (p.Leu93=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001469355] |
Chr5:7873520 [GRCh38]
Chr5:7873633 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1089A>G (p.Gly363=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001462261] |
Chr5:7886646 [GRCh38]
Chr5:7886759 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.138A>G (p.Leu46=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000906890] |
Chr5:7873381 [GRCh38]
Chr5:7873494 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) |
copy number loss |
5p partial monosomy syndrome [RCV000767709] |
Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_002454.3(MTRR):c.1769+1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001036277]|Neural tube defects, folate-sensitive [RCV003461431] |
Chr5:7896957 [GRCh38]
Chr5:7897070 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) |
single nucleotide variant |
Homocystinuria without methylmalonic aciduria [RCV000825568]|Methylcobalamin deficiency type cblE [RCV001869267]|Methylcobalamin deficiency type cblE [RCV002487868]|Neural tube defects, folate-sensitive [RCV003461292] |
Chr5:7875314 [GRCh38]
Chr5:7875427 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.270del (p.Tyr91fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV000805731]|Neural tube defects, folate-sensitive [RCV003467413] |
Chr5:7873512 [GRCh38]
Chr5:7873625 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) |
microsatellite |
Disorders of Intracellular Cobalamin Metabolism [RCV000778769]|Inborn genetic diseases [RCV001267450]|Methylcobalamin deficiency type cblE [RCV000824011]|Neural tube defects, folate-sensitive [RCV003465707]|not provided [RCV001008141] |
Chr5:7896862..7896865 [GRCh38]
Chr5:7896975..7896978 [GRCh37]
Chr5:5p15.31 |
pathogenic|uncertain significance |
| NM_002454.3(MTRR):c.1927_1928insTT (p.Glu643fs) |
insertion |
Disorders of Intracellular Cobalamin Metabolism [RCV000778770] |
Chr5:7897222..7897223 [GRCh38]
Chr5:7897335..7897336 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.2031A>G (p.Leu677=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001426628] |
Chr5:7899992 [GRCh38]
Chr5:7900105 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1676+10T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000900010] |
Chr5:7895862 [GRCh38]
Chr5:7895975 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.27T>C (p.Ala9=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158029]|MTRR-related condition [RCV003970632]|Methylcobalamin deficiency type cblE [RCV000943009] |
Chr5:7870821 [GRCh38]
Chr5:7870934 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.906T>C (p.Asn302=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000945965] |
Chr5:7885703 [GRCh38]
Chr5:7885816 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1149A>G (p.Ala383=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000983176] |
Chr5:7889097 [GRCh38]
Chr5:7889210 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.702A>G (p.Pro234=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001501906] |
Chr5:7878244 [GRCh38]
Chr5:7878357 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.195A>G (p.Pro65=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001459186] |
Chr5:7873438 [GRCh38]
Chr5:7873551 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1890G>A (p.Gln630=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000888226] |
Chr5:7897185 [GRCh38]
Chr5:7897298 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 |
copy number loss |
not provided [RCV001005642] |
Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1 |
copy number loss |
not provided [RCV001005649] |
Chr5:1322680..10762544 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_002454.3(MTRR):c.2016T>C (p.Val672=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000977053] |
Chr5:7899977 [GRCh38]
Chr5:7900090 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.903+469T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV002537460]|Methylcobalamin deficiency type cblE [RCV000820217]|Neural tube defects, folate-sensitive [RCV003467497]|not provided [RCV001532026] |
Chr5:7883746 [GRCh38]
Chr5:7883859 [GRCh37]
Chr5:5p15.31 |
pathogenic|not provided |
| NM_002454.3(MTRR):c.1677-8C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000871419] |
Chr5:7896856 [GRCh38]
Chr5:7896969 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV000805181] |
Chr5:7889131..7889132 [GRCh38]
Chr5:7889244..7889245 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1769+8A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000914292] |
Chr5:7896964 [GRCh38]
Chr5:7897077 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.324del (p.Lys109fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001066391]|Neural tube defects, folate-sensitive [RCV003461302]|not provided [RCV000998353] |
Chr5:7875293 [GRCh38]
Chr5:7875406 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.1677-2dup |
duplication |
MTRR-related condition [RCV003965598]|Methylcobalamin deficiency type cblE [RCV000806246]|not provided [RCV003128710] |
Chr5:7896861..7896862 [GRCh38]
Chr5:7896974..7896975 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.857C>T (p.Thr286Met) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000871131] |
Chr5:7883231 [GRCh38]
Chr5:7883344 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.54C>T (p.Ile18=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001274254]|not provided [RCV000827393] |
Chr5:7870848 [GRCh38]
Chr5:7870961 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.867C>G (p.Ala289=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001433282] |
Chr5:7883241 [GRCh38]
Chr5:7883354 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NC_000005.10:g.7869229C>T |
single nucleotide variant |
not provided [RCV000839033] |
Chr5:7869342 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1769+14C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507315]|not provided [RCV000827384] |
Chr5:7896970 [GRCh38]
Chr5:7897083 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.246G>C (p.Pro82=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152555]|Methylcobalamin deficiency type cblE [RCV000876614] |
Chr5:7873489 [GRCh38]
Chr5:7873602 [GRCh37]
Chr5:5p15.31 |
benign|uncertain significance |
| NM_002454.3(MTRR):c.1209G>A (p.Glu403=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001417139] |
Chr5:7889157 [GRCh38]
Chr5:7889270 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003243331]|Methylcobalamin deficiency type cblE [RCV000816511]|not provided [RCV003432776] |
Chr5:7885832 [GRCh38]
Chr5:7885945 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003344052]|Methylcobalamin deficiency type cblE [RCV000795056]|Methylcobalamin deficiency type cblE [RCV002493449] |
Chr5:7885770 [GRCh38]
Chr5:7885883 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*490A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152774] |
Chr5:7900548 [GRCh38]
Chr5:7900661 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152556]|Methylcobalamin deficiency type cblE [RCV002557291] |
Chr5:7873511 [GRCh38]
Chr5:7873624 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.123C>T (p.Ser41=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000915278] |
Chr5:7870917 [GRCh38]
Chr5:7871030 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NC_000005.10:g.(?_7869114)_(7900078_?)del |
deletion |
Methylcobalamin deficiency type cblE [RCV001032317] |
Chr5:7869227..7900191 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.740del (p.Pro247fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001226293]|Neural tube defects, folate-sensitive [RCV003462774] |
Chr5:7878278 [GRCh38]
Chr5:7878391 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.973_1146+462del |
deletion |
Methylcobalamin deficiency type cblE [RCV001226410] |
Chr5:7885767..7887162 [GRCh38]
Chr5:7885880..7887275 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001243293] |
Chr5:7889200 [GRCh38]
Chr5:7889313 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter) |
indel |
Methylcobalamin deficiency type cblE [RCV001212318] |
Chr5:7889103..7889104 [GRCh38]
Chr5:7889216..7889217 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001242402] |
Chr5:7883237 [GRCh38]
Chr5:7883350 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.31(chr5:7607935-9584194)x3 |
copy number gain |
not provided [RCV000846801] |
Chr5:7607935..9584194 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.-28T>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001156352] |
Chr5:7869213 [GRCh38]
Chr5:7869326 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1563C>T (p.Ser521=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001153943]|Methylcobalamin deficiency type cblE [RCV001446211] |
Chr5:7895739 [GRCh38]
Chr5:7895852 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.*151A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158253]|not provided [RCV001558108] |
Chr5:7900209 [GRCh38]
Chr5:7900322 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1779C>G (p.Leu593=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003104841] |
Chr5:7897074 [GRCh38]
Chr5:7897187 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1058-204T>C |
single nucleotide variant |
not provided [RCV001544664] |
Chr5:7886411 [GRCh38]
Chr5:7886524 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1676+137G>A |
single nucleotide variant |
not provided [RCV001551138] |
Chr5:7895989 [GRCh38]
Chr5:7896102 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NC_000005.9:g.(?_7870908)_(7871056_?)del |
deletion |
Methylcobalamin deficiency type cblE [RCV003107683] |
Chr5:7870908..7871056 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NC_000005.9:g.(?_7875361)_(7875498_?)del |
deletion |
Methylcobalamin deficiency type cblE [RCV003107684] |
Chr5:7875361..7875498 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1952+176G>A |
single nucleotide variant |
not provided [RCV001570596] |
Chr5:7897423 [GRCh38]
Chr5:7897536 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-124T>G |
single nucleotide variant |
not provided [RCV001555011] |
Chr5:7899790 [GRCh38]
Chr5:7899903 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1676+286G>A |
single nucleotide variant |
not provided [RCV001636005] |
Chr5:7896138 [GRCh38]
Chr5:7896251 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.904-288T>C |
single nucleotide variant |
not provided [RCV001690829] |
Chr5:7885413 [GRCh38]
Chr5:7885526 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1953-183A>G |
single nucleotide variant |
not provided [RCV001639193] |
Chr5:7899731 [GRCh38]
Chr5:7899844 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.129+152C>G |
single nucleotide variant |
not provided [RCV001562706] |
Chr5:7871075 [GRCh38]
Chr5:7871188 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1557+47T>G |
single nucleotide variant |
not provided [RCV001587540] |
Chr5:7892960 [GRCh38]
Chr5:7893073 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1370+269C>T |
single nucleotide variant |
not provided [RCV001694417] |
Chr5:7891683 [GRCh38]
Chr5:7891796 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.401+210G>A |
single nucleotide variant |
not provided [RCV001676646] |
Chr5:7875585 [GRCh38]
Chr5:7875698 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1370+83A>G |
single nucleotide variant |
not provided [RCV001696414] |
Chr5:7891497 [GRCh38]
Chr5:7891610 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1328-109_1328-105del |
deletion |
not provided [RCV001686523] |
Chr5:7891260..7891264 [GRCh38]
Chr5:7891373..7891377 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1058-86C>A |
single nucleotide variant |
not provided [RCV001552982] |
Chr5:7886529 [GRCh38]
Chr5:7886642 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1677-9T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000940192] |
Chr5:7896855 [GRCh38]
Chr5:7896968 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1450C>T (p.Leu484=) |
single nucleotide variant |
not provided [RCV000909067] |
Chr5:7892806 [GRCh38]
Chr5:7892919 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1482C>T (p.Ala494=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001500204] |
Chr5:7892838 [GRCh38]
Chr5:7892951 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2073C>T (p.Arg691=) |
single nucleotide variant |
MTRR-related condition [RCV003958251]|Methylcobalamin deficiency type cblE [RCV000907261] |
Chr5:7900034 [GRCh38]
Chr5:7900147 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.21A>G (p.Leu7=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000907224] |
Chr5:7870815 [GRCh38]
Chr5:7870928 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.198C>T (p.Pro66=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000929870] |
Chr5:7873441 [GRCh38]
Chr5:7873554 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.594T>C (p.Asp198=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000910099] |
Chr5:7878136 [GRCh38]
Chr5:7878249 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.284-34T>C |
single nucleotide variant |
not provided [RCV001786590] |
Chr5:7875224 [GRCh38]
Chr5:7875337 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1233C>G (p.Ala411=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002066187] |
Chr5:7889181 [GRCh38]
Chr5:7889294 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.939C>T (p.Phe313=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000921706] |
Chr5:7885736 [GRCh38]
Chr5:7885849 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-4C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002540784]|Methylcobalamin deficiency type cblE [RCV001274258] |
Chr5:7885697 [GRCh38]
Chr5:7885810 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.780+5G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158133] |
Chr5:7878327 [GRCh38]
Chr5:7878440 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001207286] |
Chr5:7892848 [GRCh38]
Chr5:7892961 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.2006G>A (p.Ser669Asn) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158249] |
Chr5:7899967 [GRCh38]
Chr5:7900080 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.734del (p.Leu245fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001226344] |
Chr5:7878274 [GRCh38]
Chr5:7878387 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001236196] |
Chr5:7889111..7889136 [GRCh38]
Chr5:7889224..7889249 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002568605]|Methylcobalamin deficiency type cblE [RCV001244887] |
Chr5:7886677 [GRCh38]
Chr5:7886790 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*163C>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152770] |
Chr5:7900221 [GRCh38]
Chr5:7900334 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.682C>T (p.Leu228Phe) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001156471] |
Chr5:7878224 [GRCh38]
Chr5:7878337 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.109dup (p.Cys37fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV001206309] |
Chr5:7870902..7870903 [GRCh38]
Chr5:7871015..7871016 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001241466] |
Chr5:7877947 [GRCh38]
Chr5:7878060 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 |
copy number loss |
not provided [RCV001005644] |
Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001244120] |
Chr5:7897084 [GRCh38]
Chr5:7897197 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.879T>C (p.Thr293=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV000913645] |
Chr5:7883253 [GRCh38]
Chr5:7883366 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1557+227C>T |
single nucleotide variant |
not provided [RCV001530805] |
Chr5:7893140 [GRCh38]
Chr5:7893253 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1676+86T>C |
single nucleotide variant |
not provided [RCV001562027] |
Chr5:7895938 [GRCh38]
Chr5:7896051 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1058-160A>G |
single nucleotide variant |
not provided [RCV001556916] |
Chr5:7886455 [GRCh38]
Chr5:7886568 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1371-124A>C |
single nucleotide variant |
not provided [RCV001657177] |
Chr5:7892603 [GRCh38]
Chr5:7892716 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.781-291G>T |
single nucleotide variant |
not provided [RCV001570561] |
Chr5:7882864 [GRCh38]
Chr5:7882977 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.780+168G>A |
single nucleotide variant |
not provided [RCV001656155] |
Chr5:7878490 [GRCh38]
Chr5:7878603 [GRCh37]
Chr5:5p15.31 |
benign |
| GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 |
copy number loss |
not provided [RCV002472712] |
Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.781-289C>T |
single nucleotide variant |
not provided [RCV001678386] |
Chr5:7882866 [GRCh38]
Chr5:7882979 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1370+69A>C |
single nucleotide variant |
not provided [RCV001549891] |
Chr5:7891483 [GRCh38]
Chr5:7891596 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1676+57C>T |
single nucleotide variant |
not provided [RCV001568990] |
Chr5:7895909 [GRCh38]
Chr5:7896022 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1146+150G>A |
single nucleotide variant |
not provided [RCV001561319] |
Chr5:7886853 [GRCh38]
Chr5:7886966 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.284-64C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001530450]|not provided [RCV001647366] |
Chr5:7875194 [GRCh38]
Chr5:7875307 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1558-327G>A |
single nucleotide variant |
not provided [RCV001620956] |
Chr5:7895407 [GRCh38]
Chr5:7895520 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.-26+129del |
deletion |
not provided [RCV001716846] |
Chr5:7869343 [GRCh38]
Chr5:7869456 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1058-141del |
deletion |
not provided [RCV001656220] |
Chr5:7886473 [GRCh38]
Chr5:7886586 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1057+164G>C |
single nucleotide variant |
not provided [RCV001617067] |
Chr5:7886018 [GRCh38]
Chr5:7886131 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1557+95G>A |
single nucleotide variant |
not provided [RCV001617034] |
Chr5:7893008 [GRCh38]
Chr5:7893121 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1953-177T>C |
single nucleotide variant |
not provided [RCV001637406] |
Chr5:7899737 [GRCh38]
Chr5:7899850 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.-26+263C>T |
single nucleotide variant |
not provided [RCV001590680] |
Chr5:7869478 [GRCh38]
Chr5:7869591 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.402-226C>T |
single nucleotide variant |
not provided [RCV001710906] |
Chr5:7877718 [GRCh38]
Chr5:7877831 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1328-275A>G |
single nucleotide variant |
not provided [RCV001698621] |
Chr5:7891097 [GRCh38]
Chr5:7891210 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.130-272C>T |
single nucleotide variant |
not provided [RCV001588738] |
Chr5:7873101 [GRCh38]
Chr5:7873214 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.*717C>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154888] |
Chr5:7900775 [GRCh38]
Chr5:7900888 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*21G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158250] |
Chr5:7900079 [GRCh38]
Chr5:7900192 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*48T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158251] |
Chr5:7900106 [GRCh38]
Chr5:7900219 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.-26G>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158028] |
Chr5:7869215 [GRCh38]
Chr5:7869328 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.31-15.2(chr5:7882916-9827532)x3 |
copy number gain |
See cases [RCV001007431] |
Chr5:7882916..9827532 [GRCh37]
Chr5:5p15.31-15.2 |
uncertain significance |
| NM_002454.3(MTRR):c.1203A>G (p.Leu401=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152665]|Methylcobalamin deficiency type cblE [RCV002070857] |
Chr5:7889151 [GRCh38]
Chr5:7889264 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.*401T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152772] |
Chr5:7900459 [GRCh38]
Chr5:7900572 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.365A>G (p.His122Arg) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001153839] |
Chr5:7875339 [GRCh38]
Chr5:7875452 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1793A>G (p.Lys598Arg) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154797] |
Chr5:7897088 [GRCh38]
Chr5:7897201 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*693G>T |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154047] |
Chr5:7900751 [GRCh38]
Chr5:7900864 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NC_000005.10:g.(?_7883145)_(7892923_?)del |
deletion |
Methylcobalamin deficiency type cblE [RCV001033354] |
Chr5:7883258..7893036 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.*569A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154045] |
Chr5:7900627 [GRCh38]
Chr5:7900740 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1827C>G (p.Phe609Leu) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154799] |
Chr5:7897122 [GRCh38]
Chr5:7897235 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*935T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154889] |
Chr5:7900993 [GRCh38]
Chr5:7901106 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001153840]|Methylcobalamin deficiency type cblE [RCV001308481] |
Chr5:7878045 [GRCh38]
Chr5:7878158 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NC_000005.10:g.(?_7877934)_(7878332_?)del |
deletion |
Methylcobalamin deficiency type cblE [RCV001033703] |
Chr5:7878047..7878445 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.903+518T>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001832854]|not provided [RCV001684210] |
Chr5:7883795 [GRCh38]
Chr5:7883908 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.903+236_903+248del |
deletion |
not provided [RCV001710761] |
Chr5:7883512..7883524 [GRCh38]
Chr5:7883625..7883637 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.129+228_129+230del |
deletion |
not provided [RCV001696316] |
Chr5:7871151..7871153 [GRCh38]
Chr5:7871264..7871266 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.*49A>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158252]|not provided [RCV001563092] |
Chr5:7900107 [GRCh38]
Chr5:7900220 [GRCh37]
Chr5:5p15.31 |
benign|likely benign |
| NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001216280] |
Chr5:7897113 [GRCh38]
Chr5:7897226 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.217G>T (p.Val73Phe) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152554] |
Chr5:7873460 [GRCh38]
Chr5:7873573 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*461T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001152773] |
Chr5:7900519 [GRCh38]
Chr5:7900632 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.230del (p.Gln77fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001201719]|Neural tube defects, folate-sensitive [RCV003462674] |
Chr5:7873473 [GRCh38]
Chr5:7873586 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) |
copy number loss |
5p partial monosomy syndrome [RCV001195139] |
Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_002454.3(MTRR):c.-31G>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001156351] |
Chr5:7869210 [GRCh38]
Chr5:7869323 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001156472]|Methylcobalamin deficiency type cblE [RCV002558364] |
Chr5:7878258 [GRCh38]
Chr5:7878371 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.741del (p.Glu248fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001206236]|Neural tube defects, folate-sensitive [RCV003462692] |
Chr5:7878283 [GRCh38]
Chr5:7878396 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.1A>G (p.Met1Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001059702] |
Chr5:7870795 [GRCh38]
Chr5:7870908 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 |
copy number loss |
not provided [RCV001005643] |
Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001158134]|Methylcobalamin deficiency type cblE [RCV001882499] |
Chr5:7885749 [GRCh38]
Chr5:7885862 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*935T>G |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154890] |
Chr5:7900993 [GRCh38]
Chr5:7901106 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.31(chr5:7263294-8372692)x3 |
copy number gain |
not provided [RCV001005652] |
Chr5:7263294..8372692 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.*977T>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154891] |
Chr5:7901035 [GRCh38]
Chr5:7901148 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.-41G>C |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001156350] |
Chr5:7869200 [GRCh38]
Chr5:7869313 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.402-1G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001042201]|Neural tube defects, folate-sensitive [RCV003461459] |
Chr5:7877943 [GRCh38]
Chr5:7878056 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1371-1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001233224] |
Chr5:7892726 [GRCh38]
Chr5:7892839 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.283+1_283+20del |
deletion |
Methylcobalamin deficiency type cblE [RCV001204859] |
Chr5:7873526..7873545 [GRCh38]
Chr5:7873639..7873658 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.*648C>A |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154046] |
Chr5:7900706 [GRCh38]
Chr5:7900819 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1944T>C (p.Tyr648=) |
single nucleotide variant |
Disorders of Intracellular Cobalamin Metabolism [RCV001154801]|Methylcobalamin deficiency type cblE [RCV001494309] |
Chr5:7897239 [GRCh38]
Chr5:7897352 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| GRCh37/hg19 5p15.31(chr5:7619352-8166508)x3 |
copy number gain |
not provided [RCV001258843] |
Chr5:7619352..8166508 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-128dup |
duplication |
not provided [RCV001536798] |
Chr5:7885562..7885563 [GRCh38]
Chr5:7885675..7885676 [GRCh37]
Chr5:5p15.31 |
benign |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) |
copy number gain |
5p partial monosomy syndrome [RCV002280773] |
Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 |
copy number loss |
See cases [RCV002285039] |
Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001336468] |
Chr5:7895818 [GRCh38]
Chr5:7895931 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001342346] |
Chr5:7889164 [GRCh38]
Chr5:7889277 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001280370] |
Chr5:7873463 [GRCh38]
Chr5:7873576 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001280373] |
Chr5:7892846 [GRCh38]
Chr5:7892959 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1998A>G (p.Gln666=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001280375] |
Chr5:7899959 [GRCh38]
Chr5:7900072 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.1260C>G (p.Ala420=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001422163] |
Chr5:7889208 [GRCh38]
Chr5:7889321 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.606G>A (p.Lys202=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001415010] |
Chr5:7878148 [GRCh38]
Chr5:7878261 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1794G>A (p.Lys598=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001414508] |
Chr5:7897089 [GRCh38]
Chr5:7897202 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001372658] |
Chr5:7897139 [GRCh38]
Chr5:7897252 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.681A>G (p.Ser227=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001413222] |
Chr5:7878223 [GRCh38]
Chr5:7878336 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.942C>T (p.Ser314=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001413771] |
Chr5:7885739 [GRCh38]
Chr5:7885852 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001383252] |
Chr5:7885844..7885845 [GRCh38]
Chr5:7885957..7885958 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.693G>C (p.Ser231=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001414663] |
Chr5:7878235 [GRCh38]
Chr5:7878348 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001362261] |
Chr5:7897127 [GRCh38]
Chr5:7897240 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001336469] |
Chr5:7878027 [GRCh38]
Chr5:7878140 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001318780] |
Chr5:7889201 [GRCh38]
Chr5:7889314 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1970C>T (p.Ala657Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001306701] |
Chr5:7899931 [GRCh38]
Chr5:7900044 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.99A>C (p.Ala33=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001280369] |
Chr5:7870893 [GRCh38]
Chr5:7871006 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001280374] |
Chr5:7896904 [GRCh38]
Chr5:7897017 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001347322] |
Chr5:7886692 [GRCh38]
Chr5:7886805 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001280372] |
Chr5:7891408 [GRCh38]
Chr5:7891521 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1676+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002546102]|Methylcobalamin deficiency type cblE [RCV001323335] |
Chr5:7895855 [GRCh38]
Chr5:7895968 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1869G>A (p.Lys623=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001395905] |
Chr5:7897164 [GRCh38]
Chr5:7897277 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001305725] |
Chr5:7892786 [GRCh38]
Chr5:7892899 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.993G>C (p.Leu331=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001280371] |
Chr5:7885790 [GRCh38]
Chr5:7885903 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.504G>A (p.Pro168=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001421261] |
Chr5:7878046 [GRCh38]
Chr5:7878159 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.873A>G (p.Lys291=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001421368] |
Chr5:7883247 [GRCh38]
Chr5:7883360 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.588C>T (p.Phe196=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001394592] |
Chr5:7878130 [GRCh38]
Chr5:7878243 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+10G>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001473100] |
Chr5:7870933 [GRCh38]
Chr5:7871046 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1698C>T (p.His566=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001490384] |
Chr5:7896885 [GRCh38]
Chr5:7896998 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.261T>C (p.Ala87=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001465056] |
Chr5:7873504 [GRCh38]
Chr5:7873617 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001380276] |
Chr5:7889104 [GRCh38]
Chr5:7889217 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.958A>G (p.Ser320Gly) |
single nucleotide variant |
MTRR-related condition [RCV003908744]|Methylcobalamin deficiency type cblE [RCV001487130] |
Chr5:7885755 [GRCh38]
Chr5:7885868 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.234C>T (p.Asn78=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001475163] |
Chr5:7873477 [GRCh38]
Chr5:7873590 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+10G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001454714] |
Chr5:7870933 [GRCh38]
Chr5:7871046 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1938T>C (p.His646=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001465093] |
Chr5:7897233 [GRCh38]
Chr5:7897346 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1716A>C (p.Gly572=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001505707] |
Chr5:7896903 [GRCh38]
Chr5:7897016 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1791T>C (p.Leu597=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001484176] |
Chr5:7897086 [GRCh38]
Chr5:7897199 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1594T>C (p.Leu532=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001473427] |
Chr5:7895770 [GRCh38]
Chr5:7895883 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1680G>A (p.Glu560=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001436188] |
Chr5:7896867 [GRCh38]
Chr5:7896980 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1773A>G (p.Lys591=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001490986] |
Chr5:7897068 [GRCh38]
Chr5:7897181 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1902G>A (p.Gln634=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001475351] |
Chr5:7897197 [GRCh38]
Chr5:7897310 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1227G>A (p.Gly409=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001436749] |
Chr5:7889175 [GRCh38]
Chr5:7889288 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.858G>C (p.Thr286=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001491356] |
Chr5:7883232 [GRCh38]
Chr5:7883345 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1179T>C (p.Ser393=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001471656] |
Chr5:7889127 [GRCh38]
Chr5:7889240 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1125A>G (p.Glu375=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001497233] |
Chr5:7886682 [GRCh38]
Chr5:7886795 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1425T>C (p.Phe475=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001431242] |
Chr5:7892781 [GRCh38]
Chr5:7892894 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1146+10del |
deletion |
Methylcobalamin deficiency type cblE [RCV001516070] |
Chr5:7886707 [GRCh38]
Chr5:7886820 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1058-8del |
deletion |
Methylcobalamin deficiency type cblE [RCV001465716] |
Chr5:7886606 [GRCh38]
Chr5:7886719 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1554T>C (p.Pro518=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001474406] |
Chr5:7892910 [GRCh38]
Chr5:7893023 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1533C>T (p.Asp511=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001492977] |
Chr5:7892889 [GRCh38]
Chr5:7893002 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1956T>C (p.Asp652=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001460193] |
Chr5:7899917 [GRCh38]
Chr5:7900030 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1328-7_1328-5del |
deletion |
Methylcobalamin deficiency type cblE [RCV001423334] |
Chr5:7891361..7891363 [GRCh38]
Chr5:7891474..7891476 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1893T>C (p.Leu631=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001472110] |
Chr5:7897188 [GRCh38]
Chr5:7897301 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.130-4G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001481205] |
Chr5:7873369 [GRCh38]
Chr5:7873482 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.735A>G (p.Leu245=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001467139] |
Chr5:7878277 [GRCh38]
Chr5:7878390 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1666C>T (p.Leu556=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001398106] |
Chr5:7895842 [GRCh38]
Chr5:7895955 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1452G>A (p.Leu484=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001393409] |
Chr5:7892808 [GRCh38]
Chr5:7892921 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1362G>A (p.Ser454=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001416116] |
Chr5:7891406 [GRCh38]
Chr5:7891519 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1287C>T (p.Leu429=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001393562] |
Chr5:7889235 [GRCh38]
Chr5:7889348 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.744A>G (p.Glu248=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001424497] |
Chr5:7878286 [GRCh38]
Chr5:7878399 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-19dup |
duplication |
Methylcobalamin deficiency type cblE [RCV001400546] |
Chr5:7885681..7885682 [GRCh38]
Chr5:7885794..7885795 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1652dup (p.Phe552fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV001382154] |
Chr5:7895824..7895825 [GRCh38]
Chr5:7895937..7895938 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1443A>G (p.Thr481=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001424894] |
Chr5:7892799 [GRCh38]
Chr5:7892912 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1371-10A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001440876] |
Chr5:7892717 [GRCh38]
Chr5:7892830 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs) |
insertion |
Methylcobalamin deficiency type cblE [RCV001385070] |
Chr5:7889247..7889248 [GRCh38]
Chr5:7889360..7889361 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.781-4C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001430286] |
Chr5:7883151 [GRCh38]
Chr5:7883264 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.718_719del (p.Leu240fs) |
microsatellite |
Methylcobalamin deficiency type cblE [RCV001380274] |
Chr5:7878256..7878257 [GRCh38]
Chr5:7878369..7878370 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1311A>G (p.Pro437=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001448928] |
Chr5:7889259 [GRCh38]
Chr5:7889372 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1857A>G (p.Glu619=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001449018] |
Chr5:7897152 [GRCh38]
Chr5:7897265 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.519A>G (p.Ala173=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001401036] |
Chr5:7878061 [GRCh38]
Chr5:7878174 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.573C>G (p.Val191=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001449378] |
Chr5:7878115 [GRCh38]
Chr5:7878228 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1368A>G (p.Ala456=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001410271] |
Chr5:7891412 [GRCh38]
Chr5:7891525 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1875G>C (p.Val625=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001449555] |
Chr5:7897170 [GRCh38]
Chr5:7897283 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NC_000005.9:g.(?_7885880)_7887275del |
deletion |
Methylcobalamin deficiency type cblE [RCV001379061] |
|
likely pathogenic |
| NM_002454.3(MTRR):c.904-3dup |
duplication |
Methylcobalamin deficiency type cblE [RCV001447244] |
Chr5:7885697..7885698 [GRCh38]
Chr5:7885810..7885811 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1266C>T (p.Ala422=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001407967] |
Chr5:7889214 [GRCh38]
Chr5:7889327 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001420676] |
Chr5:7899938 [GRCh38]
Chr5:7900051 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.516T>C (p.Pro172=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001408075] |
Chr5:7878058 [GRCh38]
Chr5:7878171 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1058-9C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001447341] |
Chr5:7886606 [GRCh38]
Chr5:7886719 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.401+9A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001410931] |
Chr5:7875384 [GRCh38]
Chr5:7875497 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.930A>C (p.Gly310=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001440088] |
Chr5:7885727 [GRCh38]
Chr5:7885840 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1233C>T (p.Ala411=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001429542] |
Chr5:7889181 [GRCh38]
Chr5:7889294 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.162T>C (p.Val54=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001408398] |
Chr5:7873405 [GRCh38]
Chr5:7873518 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1932C>T (p.Asn644=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001408784] |
Chr5:7897227 [GRCh38]
Chr5:7897340 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.849A>G (p.Gln283=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001435089] |
Chr5:7883223 [GRCh38]
Chr5:7883336 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1095T>C (p.Ser365=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001502084] |
Chr5:7886652 [GRCh38]
Chr5:7886765 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1066T>C (p.Leu356=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001472253] |
Chr5:7886623 [GRCh38]
Chr5:7886736 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1593C>T (p.His531=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001478753] |
Chr5:7895769 [GRCh38]
Chr5:7895882 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1147-6T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001454710] |
Chr5:7889089 [GRCh38]
Chr5:7889202 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1083T>C (p.Pro361=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001499441] |
Chr5:7886640 [GRCh38]
Chr5:7886753 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.-26+250C>T |
single nucleotide variant |
not provided [RCV001686813] |
Chr5:7869465 [GRCh38]
Chr5:7869578 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1764A>C (p.Leu588=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001458056] |
Chr5:7896951 [GRCh38]
Chr5:7897064 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1293C>T (p.Phe431=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001491034] |
Chr5:7889241 [GRCh38]
Chr5:7889354 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.903+751G>C |
single nucleotide variant |
not provided [RCV001687015] |
Chr5:7884028 [GRCh38]
Chr5:7884141 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1230A>C (p.Ala410=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001503007] |
Chr5:7889178 [GRCh38]
Chr5:7889291 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1803C>T (p.Ile601=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001482596] |
Chr5:7897098 [GRCh38]
Chr5:7897211 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1257T>C (p.Asp419=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001476294] |
Chr5:7889205 [GRCh38]
Chr5:7889318 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1602T>C (p.Asp534=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001486682] |
Chr5:7895778 [GRCh38]
Chr5:7895891 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-10del |
deletion |
Methylcobalamin deficiency type cblE [RCV001474155] |
Chr5:7885691 [GRCh38]
Chr5:7885804 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1371-8C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001462939] |
Chr5:7892719 [GRCh38]
Chr5:7892832 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1741A>C (p.Arg581=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001466118] |
Chr5:7896928 [GRCh38]
Chr5:7897041 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.171T>A (p.Val57=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001459167] |
Chr5:7873414 [GRCh38]
Chr5:7873527 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-118G>C |
single nucleotide variant |
not provided [RCV001614044] |
Chr5:7899796 [GRCh38]
Chr5:7899909 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.904-20dup |
duplication |
Methylcobalamin deficiency type cblE [RCV001776274]|not provided [RCV001671849] |
Chr5:7885669..7885670 [GRCh38]
Chr5:7885782..7885783 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.381A>G (p.Gly127=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001500863] |
Chr5:7875355 [GRCh38]
Chr5:7875468 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.-26+755C>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001513870] |
Chr5:7869970 [GRCh38]
Chr5:7870083 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1557+10T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001484696] |
Chr5:7892923 [GRCh38]
Chr5:7893036 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1770-7A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001453904] |
Chr5:7897058 [GRCh38]
Chr5:7897171 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.936C>G (p.Ala312=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001472186] |
Chr5:7885733 [GRCh38]
Chr5:7885846 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2076C>T (p.Tyr692=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001472602] |
Chr5:7900037 [GRCh38]
Chr5:7900150 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1839T>A (p.Ala613=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001460245] |
Chr5:7897134 [GRCh38]
Chr5:7897247 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1769+10A>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001468562] |
Chr5:7896966 [GRCh38]
Chr5:7897079 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1239T>C (p.Tyr413=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001458316] |
Chr5:7889187 [GRCh38]
Chr5:7889300 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1327+10C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001457013] |
Chr5:7889285 [GRCh38]
Chr5:7889398 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.84A>G (p.Val28=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001457017] |
Chr5:7870878 [GRCh38]
Chr5:7870991 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1558-8T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001506479] |
Chr5:7895726 [GRCh38]
Chr5:7895839 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2094A>G (p.Ser698=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001490813] |
Chr5:7900055 [GRCh38]
Chr5:7900168 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1887C>A (p.Ile629=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001473902] |
Chr5:7897182 [GRCh38]
Chr5:7897295 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.984C>G (p.Leu328=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001442733] |
Chr5:7885781 [GRCh38]
Chr5:7885894 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1370+12del |
deletion |
Methylcobalamin deficiency type cblE [RCV001500292] |
Chr5:7891424 [GRCh38]
Chr5:7891537 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.957C>T (p.Asn319=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001476234] |
Chr5:7885754 [GRCh38]
Chr5:7885867 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.909A>G (p.Thr303=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001434208] |
Chr5:7885706 [GRCh38]
Chr5:7885819 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.283+9CT[3] |
microsatellite |
Methylcobalamin deficiency type cblE [RCV001521573] |
Chr5:7873535..7873536 [GRCh38]
Chr5:7873648..7873649 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1912A>C (p.Arg638=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001401789] |
Chr5:7897207 [GRCh38]
Chr5:7897320 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.498A>G (p.Ala166=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001432575] |
Chr5:7878040 [GRCh38]
Chr5:7878153 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001383913] |
Chr5:7891383 [GRCh38]
Chr5:7891496 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1917C>A (p.Ile639=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001430085] |
Chr5:7897212 [GRCh38]
Chr5:7897325 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1146+10dup |
duplication |
Methylcobalamin deficiency type cblE [RCV001407139] |
Chr5:7886706..7886707 [GRCh38]
Chr5:7886819..7886820 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1650C>T (p.Ala550=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001499114] |
Chr5:7895826 [GRCh38]
Chr5:7895939 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.573C>T (p.Val191=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001436800] |
Chr5:7878115 [GRCh38]
Chr5:7878228 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1704T>C (p.Asp568=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001483759] |
Chr5:7896891 [GRCh38]
Chr5:7897004 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1260C>T (p.Ala420=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001437380] |
Chr5:7889208 [GRCh38]
Chr5:7889321 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.495C>T (p.Gly165=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001402349] |
Chr5:7878037 [GRCh38]
Chr5:7878150 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.280C>T (p.Leu94=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001400866] |
Chr5:7873523 [GRCh38]
Chr5:7873636 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1809T>C (p.Thr603=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001419177] |
Chr5:7897104 [GRCh38]
Chr5:7897217 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.312T>C (p.Phe104=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001481186] |
Chr5:7875286 [GRCh38]
Chr5:7875399 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1764A>G (p.Leu588=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001435952] |
Chr5:7896951 [GRCh38]
Chr5:7897064 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.178A>G (p.Thr60Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002540698]|not provided [RCV001755587] |
Chr5:7873421 [GRCh38]
Chr5:7873534 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1770-42G>C |
single nucleotide variant |
not provided [RCV001779844] |
Chr5:7897023 [GRCh38]
Chr5:7897136 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.354T>G (p.Leu118=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002084598] |
Chr5:7875328 [GRCh38]
Chr5:7875441 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.916del (p.Ser306fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001782470] |
Chr5:7885710 [GRCh38]
Chr5:7885823 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1057+131A>G |
single nucleotide variant |
not provided [RCV001776881] |
Chr5:7885985 [GRCh38]
Chr5:7886098 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1998A>C (p.Gln666His) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001930109] |
Chr5:7899959 [GRCh38]
Chr5:7900072 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001889437] |
Chr5:7896907 [GRCh38]
Chr5:7897020 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NC_000005.9:g.(?_7870908)_(7900171_?)del |
deletion |
Methylcobalamin deficiency type cblE [RCV001949406] |
Chr5:7870908..7900171 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1612dup (p.Ile538fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV001914825] |
Chr5:7895786..7895787 [GRCh38]
Chr5:7895899..7895900 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001894175] |
Chr5:7897178 [GRCh38]
Chr5:7897291 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1401T>G (p.His467Gln) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002040062] |
Chr5:7892757 [GRCh38]
Chr5:7892870 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1621A>G (p.Ile541Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001945294] |
Chr5:7895797 [GRCh38]
Chr5:7895910 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1591C>T (p.His531Tyr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001894333] |
Chr5:7895767 [GRCh38]
Chr5:7895880 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.350A>G (p.Glu117Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001968257] |
Chr5:7875324 [GRCh38]
Chr5:7875437 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.703C>T (p.Leu235Phe) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002020820] |
Chr5:7878245 [GRCh38]
Chr5:7878358 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.589G>A (p.Asp197Asn) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002001993] |
Chr5:7878131 [GRCh38]
Chr5:7878244 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.397G>C (p.Val133Leu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001926345] |
Chr5:7875371 [GRCh38]
Chr5:7875484 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1057+22C>T |
single nucleotide variant |
not provided [RCV002052350] |
Chr5:7885876 [GRCh38]
Chr5:7885989 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.589G>C (p.Asp197His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547959]|Methylcobalamin deficiency type cblE [RCV001894188] |
Chr5:7878131 [GRCh38]
Chr5:7878244 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.127A>G (p.Lys43Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001982734] |
Chr5:7870921 [GRCh38]
Chr5:7871034 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002042673] |
Chr5:7892858 [GRCh38]
Chr5:7892971 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1146+1G>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002020460] |
Chr5:7886704 [GRCh38]
Chr5:7886817 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 |
copy number loss |
not provided [RCV001827855] |
Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001941840] |
Chr5:7885844..7885847 [GRCh38]
Chr5:7885957..7885960 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.865G>A (p.Ala289Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001943156] |
Chr5:7883239 [GRCh38]
Chr5:7883352 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1476del (p.Trp492fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001942388] |
Chr5:7892831 [GRCh38]
Chr5:7892944 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.953C>T (p.Pro318Leu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001960483] |
Chr5:7885750 [GRCh38]
Chr5:7885863 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.527G>C (p.Arg176Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001940994] |
Chr5:7878069 [GRCh38]
Chr5:7878182 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.815del (p.Pro272fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV002000164] |
Chr5:7883188 [GRCh38]
Chr5:7883301 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001924027] |
Chr5:7886627 [GRCh38]
Chr5:7886740 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.401+2_401+7del |
deletion |
Methylcobalamin deficiency type cblE [RCV002046730] |
Chr5:7875373..7875378 [GRCh38]
Chr5:7875486..7875491 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1488G>A (p.Leu496=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002031017] |
Chr5:7892844 [GRCh38]
Chr5:7892957 [GRCh37]
Chr5:5p15.31 |
likely benign|uncertain significance |
| NM_002454.3(MTRR):c.449T>G (p.Leu150Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001992725] |
Chr5:7877991 [GRCh38]
Chr5:7878104 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1728del (p.Leu576fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001953506] |
Chr5:7896915 [GRCh38]
Chr5:7897028 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NC_000005.9:g.(?_7889198)_(7897370_?)del |
deletion |
Methylcobalamin deficiency type cblE [RCV002013510] |
Chr5:7889198..7897370 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.354_358del (p.Gly119fs) |
deletion |
MTRR-related condition [RCV003395318]|Methylcobalamin deficiency type cblE [RCV001994688] |
Chr5:7875328..7875332 [GRCh38]
Chr5:7875441..7875445 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.401+1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002033125]|Neural tube defects, folate-sensitive [RCV003470947] |
Chr5:7875376 [GRCh38]
Chr5:7875489 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001978918] |
Chr5:7886693 [GRCh38]
Chr5:7886806 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001917279] |
Chr5:7886630 [GRCh38]
Chr5:7886743 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.860A>G (p.Asn287Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002009852] |
Chr5:7883234 [GRCh38]
Chr5:7883347 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.542A>G (p.Lys181Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002047681] |
Chr5:7878084 [GRCh38]
Chr5:7878197 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.976A>G (p.Ser326Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001918719] |
Chr5:7885773 [GRCh38]
Chr5:7885886 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.317A>G (p.Asn106Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001903481] |
Chr5:7875291 [GRCh38]
Chr5:7875404 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002548044]|Methylcobalamin deficiency type cblE [RCV001932080] |
Chr5:7897072 [GRCh38]
Chr5:7897185 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.402-2A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002012576] |
Chr5:7877942 [GRCh38]
Chr5:7878055 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.781-5T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001955394] |
Chr5:7883150 [GRCh38]
Chr5:7883263 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.228dup (p.Gln77fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV001994586] |
Chr5:7873470..7873471 [GRCh38]
Chr5:7873583..7873584 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001921773] |
Chr5:7885815 [GRCh38]
Chr5:7885928 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001982018]|Methylcobalamin deficiency type cblE [RCV002503659]|Neural tube defects, folate-sensitive [RCV003471078] |
Chr5:7878305 [GRCh38]
Chr5:7878418 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002035229] |
Chr5:7886680 [GRCh38]
Chr5:7886793 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NC_000005.9:g.(?_7895827)_(7900171_?)dup |
duplication |
Methylcobalamin deficiency type cblE [RCV002016942] |
Chr5:7895827..7900171 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002012749] |
Chr5:7895773 [GRCh38]
Chr5:7895886 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.313T>G (p.Cys105Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001957314] |
Chr5:7875287 [GRCh38]
Chr5:7875400 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1554_1557+3del |
deletion |
Methylcobalamin deficiency type cblE [RCV001979539]|Neural tube defects, folate-sensitive [RCV003464333] |
Chr5:7892910..7892916 [GRCh38]
Chr5:7893023..7893029 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.52A>G (p.Ile18Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001997272] |
Chr5:7870846 [GRCh38]
Chr5:7870959 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001907312] |
Chr5:7892802 [GRCh38]
Chr5:7892915 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.692C>T (p.Ser231Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002569293]|Methylcobalamin deficiency type cblE [RCV001961379] |
Chr5:7878234 [GRCh38]
Chr5:7878347 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NC_000005.9:g.(?_7870908)_(7900171_?)dup |
duplication |
Methylcobalamin deficiency type cblE [RCV002034938] |
Chr5:7870908..7900171 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.340del (p.Arg114fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV001960278] |
Chr5:7875314 [GRCh38]
Chr5:7875427 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001901811]|not specified [RCV002246587] |
Chr5:7896914 [GRCh38]
Chr5:7897027 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001916059] |
Chr5:7878277 [GRCh38]
Chr5:7878390 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001952302] |
Chr5:7892860 [GRCh38]
Chr5:7892973 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.807A>G (p.Ser269=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001876850] |
Chr5:7883181 [GRCh38]
Chr5:7883294 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001880607]|Methylcobalamin deficiency type cblE [RCV002482479] |
Chr5:7892893 [GRCh38]
Chr5:7893006 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1418T>C (p.Val473Ala) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001923173] |
Chr5:7892774 [GRCh38]
Chr5:7892887 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1075C>T (p.His359Tyr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001935499] |
Chr5:7886632 [GRCh38]
Chr5:7886745 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV001916282] |
Chr5:7895750 [GRCh38]
Chr5:7895863 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.24T>C (p.Tyr8=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002128009] |
Chr5:7870818 [GRCh38]
Chr5:7870931 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.15G>A (p.Leu5=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002076042] |
Chr5:7870809 [GRCh38]
Chr5:7870922 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.780+8A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002108733] |
Chr5:7878330 [GRCh38]
Chr5:7878443 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.246G>A (p.Pro82=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002085372] |
Chr5:7873489 [GRCh38]
Chr5:7873602 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.979C>T (p.Leu327=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002190802] |
Chr5:7885776 [GRCh38]
Chr5:7885889 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.612T>C (p.Ser204=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002191020] |
Chr5:7878154 [GRCh38]
Chr5:7878267 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1959A>G (p.Ala653=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002112499] |
Chr5:7899920 [GRCh38]
Chr5:7900033 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1221A>G (p.Lys407=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002186934] |
Chr5:7889169 [GRCh38]
Chr5:7889282 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.333T>C (p.Ile111=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002072450] |
Chr5:7875307 [GRCh38]
Chr5:7875420 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.462T>C (p.Phe154=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002205239] |
Chr5:7878004 [GRCh38]
Chr5:7878117 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1815A>G (p.Leu605=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002072582] |
Chr5:7897110 [GRCh38]
Chr5:7897223 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1677-9del |
deletion |
Methylcobalamin deficiency type cblE [RCV002124857] |
Chr5:7896845 [GRCh38]
Chr5:7896958 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.1614C>T (p.Ile538=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002106995] |
Chr5:7895790 [GRCh38]
Chr5:7895903 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+10_1952+12del |
deletion |
Methylcobalamin deficiency type cblE [RCV002167513] |
Chr5:7897255..7897257 [GRCh38]
Chr5:7897368..7897370 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.903+19T>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002169039] |
Chr5:7883296 [GRCh38]
Chr5:7883409 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1370+9A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002088277] |
Chr5:7891423 [GRCh38]
Chr5:7891536 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.39A>G (p.Gly13=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002145317] |
Chr5:7870833 [GRCh38]
Chr5:7870946 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.507G>T (p.Val169=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002079590] |
Chr5:7878049 [GRCh38]
Chr5:7878162 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1431T>G (p.Ser477=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002079433] |
Chr5:7892787 [GRCh38]
Chr5:7892900 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1328-4C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002185084] |
Chr5:7891368 [GRCh38]
Chr5:7891481 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1686C>T (p.Leu562=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002151323] |
Chr5:7896873 [GRCh38]
Chr5:7896986 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1058-5A>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002170860] |
Chr5:7886610 [GRCh38]
Chr5:7886723 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.793G>A (p.Val265Ile) |
single nucleotide variant |
not provided [RCV002224836] |
Chr5:7883167 [GRCh38]
Chr5:7883280 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.612T>G (p.Ser204=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002146173] |
Chr5:7878154 [GRCh38]
Chr5:7878267 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.283+9C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002206514] |
Chr5:7873535 [GRCh38]
Chr5:7873648 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1317T>C (p.Ser439=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002094043] |
Chr5:7889265 [GRCh38]
Chr5:7889378 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1590C>T (p.Phe530=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002196376] |
Chr5:7895766 [GRCh38]
Chr5:7895879 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.477A>C (p.Gly159=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002208418] |
Chr5:7878019 [GRCh38]
Chr5:7878132 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1986T>C (p.Asp662=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002195377] |
Chr5:7899947 [GRCh38]
Chr5:7900060 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.456G>A (p.Lys152=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002211684] |
Chr5:7877998 [GRCh38]
Chr5:7878111 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.87T>C (p.His29=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002213743] |
Chr5:7870881 [GRCh38]
Chr5:7870994 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1557+18T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002172980] |
Chr5:7892931 [GRCh38]
Chr5:7893044 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1923C>G (p.Leu641=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002150593] |
Chr5:7897218 [GRCh38]
Chr5:7897331 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.534C>T (p.Asp178=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002212713] |
Chr5:7878076 [GRCh38]
Chr5:7878189 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.264C>T (p.His88=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002133678] |
Chr5:7873507 [GRCh38]
Chr5:7873620 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.288C>G (p.Leu96=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002213849] |
Chr5:7875262 [GRCh38]
Chr5:7875375 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1992T>C (p.Leu664=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002192911] |
Chr5:7899953 [GRCh38]
Chr5:7900066 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1328-4C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002116356] |
Chr5:7891368 [GRCh38]
Chr5:7891481 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.867C>T (p.Ala289=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002152901] |
Chr5:7883241 [GRCh38]
Chr5:7883354 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.630T>C (p.Asn210=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002185534] |
Chr5:7878172 [GRCh38]
Chr5:7878285 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.789C>T (p.Ser263=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002130896] |
Chr5:7883163 [GRCh38]
Chr5:7883276 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.892T>C (p.Leu298=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002094848] |
Chr5:7883266 [GRCh38]
Chr5:7883379 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1395G>A (p.Lys465=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002215558] |
Chr5:7892751 [GRCh38]
Chr5:7892864 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1290T>C (p.Ala430=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002172144] |
Chr5:7889238 [GRCh38]
Chr5:7889351 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1764A>T (p.Leu588=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002150651] |
Chr5:7896951 [GRCh38]
Chr5:7897064 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1147-8T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002093331] |
Chr5:7889087 [GRCh38]
Chr5:7889200 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.459T>C (p.His153=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002095894] |
Chr5:7878001 [GRCh38]
Chr5:7878114 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.654T>C (p.Asn218=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002150880] |
Chr5:7878196 [GRCh38]
Chr5:7878309 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.423G>C (p.Pro141=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002081691] |
Chr5:7877965 [GRCh38]
Chr5:7878078 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1929G>A (p.Glu643=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002200349] |
Chr5:7897224 [GRCh38]
Chr5:7897337 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1041A>C (p.Ala347=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002220939] |
Chr5:7885838 [GRCh38]
Chr5:7885951 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1212G>T (p.Leu404=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002084032] |
Chr5:7889160 [GRCh38]
Chr5:7889273 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1599A>G (p.Pro533=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002204306] |
Chr5:7895775 [GRCh38]
Chr5:7895888 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1749G>A (p.Lys583=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002138506] |
Chr5:7896936 [GRCh38]
Chr5:7897049 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.402-20C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002200952] |
Chr5:7877924 [GRCh38]
Chr5:7878037 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1146+12T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002177054] |
Chr5:7886715 [GRCh38]
Chr5:7886828 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1057+7G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002137693] |
Chr5:7885861 [GRCh38]
Chr5:7885974 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1147-11C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002142566] |
Chr5:7889084 [GRCh38]
Chr5:7889197 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1677-6A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002199296] |
Chr5:7896858 [GRCh38]
Chr5:7896971 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1147-14G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002122622] |
Chr5:7889081 [GRCh38]
Chr5:7889194 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.2088T>C (p.Ile696=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002142271] |
Chr5:7900049 [GRCh38]
Chr5:7900162 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1041A>G (p.Ala347=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002154072] |
Chr5:7885838 [GRCh38]
Chr5:7885951 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1989C>T (p.Ala663=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002137413] |
Chr5:7899950 [GRCh38]
Chr5:7900063 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.708A>G (p.Ser236=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002103598] |
Chr5:7878250 [GRCh38]
Chr5:7878363 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+9C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002119975] |
Chr5:7870932 [GRCh38]
Chr5:7871045 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1854G>A (p.Glu618=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002103721] |
Chr5:7897149 [GRCh38]
Chr5:7897262 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.477A>G (p.Gly159=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002142935] |
Chr5:7878019 [GRCh38]
Chr5:7878132 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.303C>T (p.Tyr101=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002154677] |
Chr5:7875277 [GRCh38]
Chr5:7875390 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2001A>T (p.Ile667=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002161755] |
Chr5:7899962 [GRCh38]
Chr5:7900075 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.936C>T (p.Ala312=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002082412] |
Chr5:7885733 [GRCh38]
Chr5:7885846 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+20A>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002100977] |
Chr5:7870943 [GRCh38]
Chr5:7871056 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.375C>T (p.Asp125=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002123696] |
Chr5:7875349 [GRCh38]
Chr5:7875462 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1371-4G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002160202] |
Chr5:7892723 [GRCh38]
Chr5:7892836 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.636G>A (p.Val212=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002157176] |
Chr5:7878178 [GRCh38]
Chr5:7878291 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1677-9dup |
duplication |
Methylcobalamin deficiency type cblE [RCV002183846] |
Chr5:7896844..7896845 [GRCh38]
Chr5:7896957..7896958 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.904-20_904-19insTTC |
insertion |
Methylcobalamin deficiency type cblE [RCV002097775] |
Chr5:7885681..7885682 [GRCh38]
Chr5:7885794..7885795 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1074G>A (p.Gln358=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002161566] |
Chr5:7886631 [GRCh38]
Chr5:7886744 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.16T>C (p.Leu6=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002154175] |
Chr5:7870810 [GRCh38]
Chr5:7870923 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.402-6G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002135713] |
Chr5:7877938 [GRCh38]
Chr5:7878051 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.579T>C (p.Leu193=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002158258] |
Chr5:7878121 [GRCh38]
Chr5:7878234 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.858G>A (p.Thr286=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002141359] |
Chr5:7883232 [GRCh38]
Chr5:7883345 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1058-16G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002120064] |
Chr5:7886599 [GRCh38]
Chr5:7886712 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1527T>C (p.His509=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002100618] |
Chr5:7892883 [GRCh38]
Chr5:7892996 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.645C>T (p.Asn215=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002157027] |
Chr5:7878187 [GRCh38]
Chr5:7878300 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.130-12C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002099343] |
Chr5:7873361 [GRCh38]
Chr5:7873474 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.702A>C (p.Pro234=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002176826] |
Chr5:7878244 [GRCh38]
Chr5:7878357 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1327+10C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002159287] |
Chr5:7889285 [GRCh38]
Chr5:7889398 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1546C>T (p.Leu516=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002144641] |
Chr5:7892902 [GRCh38]
Chr5:7893015 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1769+15C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003111937] |
Chr5:7896971 [GRCh38]
Chr5:7897084 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.850C>T (p.Leu284Phe) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003112843] |
Chr5:7883224 [GRCh38]
Chr5:7883337 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1575A>T (p.Arg525=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003119867] |
Chr5:7895751 [GRCh38]
Chr5:7895864 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NC_000005.10:g.7869040G>A |
single nucleotide variant |
not provided [RCV002276259] |
Chr5:7869040 [GRCh38]
Chr5:7869153 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1 |
copy number loss |
See cases [RCV002286352] |
Chr5:113576..8007018 [GRCh37]
Chr5:5p15.33-15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1288G>A (p.Ala430Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003284768] |
Chr5:7889236 [GRCh38]
Chr5:7889349 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 |
copy number loss |
not provided [RCV002473919] |
Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| NM_002454.3(MTRR):c.1015C>G (p.His339Asp) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002295930] |
Chr5:7885812 [GRCh38]
Chr5:7885925 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002298956] |
Chr5:7889123 [GRCh38]
Chr5:7889236 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1838C>G (p.Ala613Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002902857] |
Chr5:7897133 [GRCh38]
Chr5:7897246 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003013433]|Neural tube defects, folate-sensitive [RCV003465890] |
Chr5:7892729 [GRCh38]
Chr5:7892842 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.422C>T (p.Pro141Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002683465] |
Chr5:7877964 [GRCh38]
Chr5:7878077 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.1213C>T (p.Pro405Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002728439] |
Chr5:7866871 [GRCh38]
Chr5:7866984 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.159T>C (p.Leu53=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003013485] |
Chr5:7873402 [GRCh38]
Chr5:7873515 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.108C>T (p.His36=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002904480] |
Chr5:7870902 [GRCh38]
Chr5:7871015 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 |
copy number loss |
not provided [RCV002475573] |
Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_002454.3(MTRR):c.2031A>C (p.Leu677=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002862075] |
Chr5:7899992 [GRCh38]
Chr5:7900105 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.106C>T (p.His36Tyr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003073638] |
Chr5:7870900 [GRCh38]
Chr5:7871013 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.620G>T (p.Arg207Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002733939] |
Chr5:7867464 [GRCh38]
Chr5:7867577 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003097546]|Neural tube defects, folate-sensitive [RCV003459750] |
Chr5:7892831 [GRCh38]
Chr5:7892944 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_024091.4(FASTKD3):c.712C>A (p.Leu238Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002946562] |
Chr5:7867372 [GRCh38]
Chr5:7867485 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1473C>T (p.Gly491=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002819704] |
Chr5:7892829 [GRCh38]
Chr5:7892942 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002819589] |
Chr5:7895795 [GRCh38]
Chr5:7895908 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1631del (p.Gly544fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003034770] |
Chr5:7895805 [GRCh38]
Chr5:7895918 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.693G>A (p.Ser231=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003075865] |
Chr5:7878235 [GRCh38]
Chr5:7878348 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+14C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003077048] |
Chr5:7870937 [GRCh38]
Chr5:7871050 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.490A>C (p.Ser164Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002687360] |
Chr5:7878032 [GRCh38]
Chr5:7878145 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1784A>G (p.His595Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003074503] |
Chr5:7897079 [GRCh38]
Chr5:7897192 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002615809] |
Chr5:7892794 [GRCh38]
Chr5:7892907 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.936C>A (p.Ala312=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002842595] |
Chr5:7885733 [GRCh38]
Chr5:7885846 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.825A>G (p.Gln275=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002881791] |
Chr5:7883199 [GRCh38]
Chr5:7883312 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-10T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002837623] |
Chr5:7885691 [GRCh38]
Chr5:7885804 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.414G>A (p.Val138=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003013638] |
Chr5:7877956 [GRCh38]
Chr5:7878069 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.920dup (p.Tyr307Ter) |
duplication |
Methylcobalamin deficiency type cblE [RCV002881842] |
Chr5:7885716..7885717 [GRCh38]
Chr5:7885829..7885830 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002614253] |
Chr5:7889201 [GRCh38]
Chr5:7889314 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1544C>A (p.Ala515Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002901583] |
Chr5:7892900 [GRCh38]
Chr5:7893013 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1643del (p.Gly548fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003034051] |
Chr5:7895818 [GRCh38]
Chr5:7895931 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002947712] |
Chr5:7892771 [GRCh38]
Chr5:7892884 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.342A>G (p.Arg114=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002843547] |
Chr5:7875316 [GRCh38]
Chr5:7875429 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.794T>G (p.Val265Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002947438] |
Chr5:7883168 [GRCh38]
Chr5:7883281 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 |
copy number loss |
not provided [RCV002475666] |
Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.930_934del (p.Asp311fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV002842594] |
Chr5:7885726..7885730 [GRCh38]
Chr5:7885839..7885843 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1314C>T (p.Leu438=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002756038] |
Chr5:7889262 [GRCh38]
Chr5:7889375 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.499C>G (p.Leu167Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002843293] |
Chr5:7878041 [GRCh38]
Chr5:7878154 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.526A>G (p.Thr176Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002969468] |
Chr5:7867558 [GRCh38]
Chr5:7867671 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.26C>G (p.Ala9Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002975075] |
Chr5:7870820 [GRCh38]
Chr5:7870933 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1394dup (p.Leu466fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV002863739] |
Chr5:7892747..7892748 [GRCh38]
Chr5:7892860..7892861 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003033874] |
Chr5:7892890 [GRCh38]
Chr5:7893003 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.525G>C (p.Ser175=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002995460] |
Chr5:7878067 [GRCh38]
Chr5:7878180 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.101A>T (p.Asp34Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002728162] |
Chr5:7870895 [GRCh38]
Chr5:7871008 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002780469] |
Chr5:7886620 [GRCh38]
Chr5:7886733 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1558-13T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002638327] |
Chr5:7895721 [GRCh38]
Chr5:7895834 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1182C>T (p.Asp394=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002825281] |
Chr5:7889130 [GRCh38]
Chr5:7889243 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+10T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002760571] |
Chr5:7897257 [GRCh38]
Chr5:7897370 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1441dup (p.Thr481fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV003003293] |
Chr5:7892795..7892796 [GRCh38]
Chr5:7892908..7892909 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.402-6del |
deletion |
Methylcobalamin deficiency type cblE [RCV002820821] |
Chr5:7877938 [GRCh38]
Chr5:7878051 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1057+8C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002848055] |
Chr5:7885862 [GRCh38]
Chr5:7885975 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.781-8T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003039119] |
Chr5:7883147 [GRCh38]
Chr5:7883260 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953del (p.Asp652fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003036330] |
Chr5:7899914 [GRCh38]
Chr5:7900027 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.283+1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002820743] |
Chr5:7873527 [GRCh38]
Chr5:7873640 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_024091.4(FASTKD3):c.442G>A (p.Gly148Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002869161] |
Chr5:7867642 [GRCh38]
Chr5:7867755 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1676+7T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003053982] |
Chr5:7895859 [GRCh38]
Chr5:7895972 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.643A>C (p.Asn215His) |
single nucleotide variant |
Inborn genetic diseases [RCV002661042] |
Chr5:7878185 [GRCh38]
Chr5:7878298 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.256G>T (p.Asp86Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002844491] |
Chr5:7867828 [GRCh38]
Chr5:7867941 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1620C>T (p.Ile540=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002923813] |
Chr5:7895796 [GRCh38]
Chr5:7895909 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.789G>C (p.Leu263Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002692123] |
Chr5:7867295 [GRCh38]
Chr5:7867408 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003053168] |
Chr5:7897141 [GRCh38]
Chr5:7897254 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.102T>C (p.Asp34=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003019564] |
Chr5:7870896 [GRCh38]
Chr5:7871009 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.304A>C (p.Thr102Pro) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003100180] |
Chr5:7875278 [GRCh38]
Chr5:7875391 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.335C>T (p.Ser112Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002759951] |
Chr5:7867749 [GRCh38]
Chr5:7867862 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.957C>G (p.Asn319Lys) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002923080] |
Chr5:7885754 [GRCh38]
Chr5:7885867 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1628T>A (p.Val543Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002979262] |
Chr5:7895804 [GRCh38]
Chr5:7895917 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002706029] |
Chr5:7895846 [GRCh38]
Chr5:7895959 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002886271] |
Chr5:7885817 [GRCh38]
Chr5:7885930 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_024091.4(FASTKD3):c.1267C>T (p.Pro423Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002911458] |
Chr5:7866817 [GRCh38]
Chr5:7866930 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.943G>A (p.Val315Met) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002927459] |
Chr5:7885740 [GRCh38]
Chr5:7885853 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1804T>C (p.Leu602=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003002428] |
Chr5:7897099 [GRCh38]
Chr5:7897212 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1564A>G (p.Ile522Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002949096]|Methylcobalamin deficiency type cblE [RCV002949097] |
Chr5:7895740 [GRCh38]
Chr5:7895853 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.935C>G (p.Ala312Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002735156] |
Chr5:7885732 [GRCh38]
Chr5:7885845 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.903+11A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002620586] |
Chr5:7883288 [GRCh38]
Chr5:7883401 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.998A>G (p.Glu333Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002887842] |
Chr5:7867086 [GRCh38]
Chr5:7867199 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.129+7G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003021651] |
Chr5:7870930 [GRCh38]
Chr5:7871043 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1272G>A (p.Leu424=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002848257] |
Chr5:7889220 [GRCh38]
Chr5:7889333 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+7C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003038933] |
Chr5:7897254 [GRCh38]
Chr5:7897367 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-4C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002621228] |
Chr5:7899910 [GRCh38]
Chr5:7900023 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.1162A>G (p.Ile388Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002758789] |
Chr5:7866922 [GRCh38]
Chr5:7867035 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1962G>A (p.Lys654=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002885329] |
Chr5:7899923 [GRCh38]
Chr5:7900036 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1029G>A (p.Leu343=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002910019] |
Chr5:7885826 [GRCh38]
Chr5:7885939 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.1580C>T (p.Ser527Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002698478] |
Chr5:7862942 [GRCh38]
Chr5:7863055 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1558-6T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002828784] |
Chr5:7895728 [GRCh38]
Chr5:7895841 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.240A>G (p.Thr80=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002932157] |
Chr5:7873483 [GRCh38]
Chr5:7873596 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+15A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002627245] |
Chr5:7870938 [GRCh38]
Chr5:7871051 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.956A>G (p.Asn319Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002893419] |
Chr5:7885753 [GRCh38]
Chr5:7885866 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1677-20C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002917461] |
Chr5:7896844 [GRCh38]
Chr5:7896957 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.908C>T (p.Thr303Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002595443]|Methylcobalamin deficiency type cblE [RCV002588573] |
Chr5:7885705 [GRCh38]
Chr5:7885818 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1788C>T (p.Phe596=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002596629] |
Chr5:7897083 [GRCh38]
Chr5:7897196 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.55G>A (p.Ala19Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002917944] |
Chr5:7870849 [GRCh38]
Chr5:7870962 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1581A>G (p.Thr527=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002825733] |
Chr5:7895757 [GRCh38]
Chr5:7895870 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.816A>G (p.Pro272=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002851570] |
Chr5:7883190 [GRCh38]
Chr5:7883303 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.635T>C (p.Val212Ala) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003023026] |
Chr5:7878177 [GRCh38]
Chr5:7878290 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.781-2A>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002595427] |
Chr5:7883153 [GRCh38]
Chr5:7883266 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.997C>T (p.Leu333Phe) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002623460] |
Chr5:7885794 [GRCh38]
Chr5:7885907 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1608C>T (p.Pro536=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002666737] |
Chr5:7895784 [GRCh38]
Chr5:7895897 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1515A>G (p.Ile505Met) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002625144] |
Chr5:7892871 [GRCh38]
Chr5:7892984 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.240A>C (p.Thr80=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002572687] |
Chr5:7873483 [GRCh38]
Chr5:7873596 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003056846] |
Chr5:7895759 [GRCh38]
Chr5:7895872 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.654T>G (p.Asn218Lys) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003056582] |
Chr5:7878196 [GRCh38]
Chr5:7878309 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1350C>T (p.Pro450=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002786229] |
Chr5:7891394 [GRCh38]
Chr5:7891507 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.348A>G (p.Gln116=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002791294] |
Chr5:7875322 [GRCh38]
Chr5:7875435 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002928288] |
Chr5:7897066 [GRCh38]
Chr5:7897179 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003022540] |
Chr5:7896955 [GRCh38]
Chr5:7897068 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002765836] |
Chr5:7886701 [GRCh38]
Chr5:7886814 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.468A>G (p.Ser156=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002871848] |
Chr5:7878010 [GRCh38]
Chr5:7878123 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.538G>A (p.Val180Met) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002623790] |
Chr5:7878080 [GRCh38]
Chr5:7878193 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.647G>A (p.Arg216His) |
single nucleotide variant |
Inborn genetic diseases [RCV002987024] |
Chr5:7867437 [GRCh38]
Chr5:7867550 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.1019C>T (p.Ala340Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002645448] |
Chr5:7867065 [GRCh38]
Chr5:7867178 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1677-4T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002917466] |
Chr5:7896860 [GRCh38]
Chr5:7896973 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.396T>C (p.Cys132=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002872766] |
Chr5:7875370 [GRCh38]
Chr5:7875483 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1076A>G (p.His359Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002930454] |
Chr5:7886633 [GRCh38]
Chr5:7886746 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1674T>C (p.His558=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003057215] |
Chr5:7895850 [GRCh38]
Chr5:7895963 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002958254] |
Chr5:7896869 [GRCh38]
Chr5:7896982 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.904-20T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003082737] |
Chr5:7885681 [GRCh38]
Chr5:7885794 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.2047C>T (p.Leu683=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003024434] |
Chr5:7900008 [GRCh38]
Chr5:7900121 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.120A>C (p.Glu40Asp) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002918521] |
Chr5:7870914 [GRCh38]
Chr5:7871027 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1499T>G (p.Val500Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002624344] |
Chr5:7892855 [GRCh38]
Chr5:7892968 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.132T>C (p.Tyr44=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002770548] |
Chr5:7873375 [GRCh38]
Chr5:7873488 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1418_1419del (p.Val473fs) |
microsatellite |
Methylcobalamin deficiency type cblE [RCV003091956]|Neural tube defects, folate-sensitive [RCV003465958] |
Chr5:7892772..7892773 [GRCh38]
Chr5:7892885..7892886 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.438C>T (p.Leu146=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003066014] |
Chr5:7877980 [GRCh38]
Chr5:7878093 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002582029] |
Chr5:7886615 [GRCh38]
Chr5:7886728 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.237A>G (p.Gln79=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003049319] |
Chr5:7873480 [GRCh38]
Chr5:7873593 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1033A>G (p.Ile345Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002813555] |
Chr5:7885830 [GRCh38]
Chr5:7885943 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.829C>A (p.Pro277Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003031907] |
Chr5:7883203 [GRCh38]
Chr5:7883316 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.1466G>T (p.Ser489Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002813011] |
Chr5:7865956 [GRCh38]
Chr5:7866069 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.495dup (p.Ala166fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV002600189] |
Chr5:7878036..7878037 [GRCh38]
Chr5:7878149..7878150 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1971C>T (p.Ala657=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003031468] |
Chr5:7899932 [GRCh38]
Chr5:7900045 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1493C>T (p.Ala498Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002632543] |
Chr5:7892849 [GRCh38]
Chr5:7892962 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.496G>A (p.Ala166Thr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003089689] |
Chr5:7878038 [GRCh38]
Chr5:7878151 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.299A>G (p.Glu100Gly) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002676273] |
Chr5:7875273 [GRCh38]
Chr5:7875386 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1953-14A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002720489] |
Chr5:7899900 [GRCh38]
Chr5:7900013 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.401+12_401+13del |
microsatellite |
Methylcobalamin deficiency type cblE [RCV003009087] |
Chr5:7875385..7875386 [GRCh38]
Chr5:7875498..7875499 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1526A>G (p.His509Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003011242] |
Chr5:7892882 [GRCh38]
Chr5:7892995 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.1256A>G (p.Asn419Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002714416] |
Chr5:7866828 [GRCh38]
Chr5:7866941 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1356A>G (p.Pro452=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002833326] |
Chr5:7891400 [GRCh38]
Chr5:7891513 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1676+15dup |
duplication |
Methylcobalamin deficiency type cblE [RCV003088340] |
Chr5:7895860..7895861 [GRCh38]
Chr5:7895973..7895974 [GRCh37]
Chr5:5p15.31 |
benign |
| NM_002454.3(MTRR):c.284-5T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003087176] |
Chr5:7875253 [GRCh38]
Chr5:7875366 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-4C>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002671335] |
Chr5:7885697 [GRCh38]
Chr5:7885810 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.647G>T (p.Arg216Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002807617] |
Chr5:7867437 [GRCh38]
Chr5:7867550 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.290del (p.Gly97fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV002988551] |
Chr5:7875263 [GRCh38]
Chr5:7875376 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1312C>T (p.Leu438Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002934930] |
Chr5:7889260 [GRCh38]
Chr5:7889373 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.318T>C (p.Asn106=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003087540] |
Chr5:7875292 [GRCh38]
Chr5:7875405 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.645_648del (p.Gln216fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV002770836] |
Chr5:7878184..7878187 [GRCh38]
Chr5:7878297..7878300 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs) |
duplication |
Methylcobalamin deficiency type cblE [RCV003047515] |
Chr5:7891397..7891398 [GRCh38]
Chr5:7891510..7891511 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002900543]|Methylcobalamin deficiency type cblE [RCV002900542] |
Chr5:7885853 [GRCh38]
Chr5:7885966 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003028675] |
Chr5:7892813 [GRCh38]
Chr5:7892926 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1953-4C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002671099] |
Chr5:7899910 [GRCh38]
Chr5:7900023 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.652A>C (p.Asn218His) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002938538] |
Chr5:7878194 [GRCh38]
Chr5:7878307 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1583A>C (p.Asn528Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002718905] |
Chr5:7895759 [GRCh38]
Chr5:7895872 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.393C>T (p.Asp131=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002966548] |
Chr5:7875367 [GRCh38]
Chr5:7875480 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.253T>G (p.Phe85Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003063220] |
Chr5:7873496 [GRCh38]
Chr5:7873609 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1909G>T (p.Ala637Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002920687] |
Chr5:7897204 [GRCh38]
Chr5:7897317 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.1469G>A (p.Arg490Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002808193] |
Chr5:7865953 [GRCh38]
Chr5:7866066 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.966T>C (p.Ser322=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002834050] |
Chr5:7885763 [GRCh38]
Chr5:7885876 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003061670] |
Chr5:7897222 [GRCh38]
Chr5:7897335 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1863A>G (p.Pro621=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002578766] |
Chr5:7897158 [GRCh38]
Chr5:7897271 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003061125] |
Chr5:7899919 [GRCh38]
Chr5:7900032 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1676+8C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002632078] |
Chr5:7895860 [GRCh38]
Chr5:7895973 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.754del (p.Val252fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003046283] |
Chr5:7878295 [GRCh38]
Chr5:7878408 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_024091.4(FASTKD3):c.1956T>A (p.Phe652Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002836050] |
Chr5:7859468 [GRCh38]
Chr5:7859581 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1596A>G (p.Leu532=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003045936] |
Chr5:7895772 [GRCh38]
Chr5:7895885 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1581A>T (p.Thr527=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003030237] |
Chr5:7895757 [GRCh38]
Chr5:7895870 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1769+6G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002603320] |
Chr5:7896962 [GRCh38]
Chr5:7897075 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002814964] |
Chr5:7895772 [GRCh38]
Chr5:7895885 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.361C>T (p.Arg121Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003368039]|Methylcobalamin deficiency type cblE [RCV002654676] |
Chr5:7875335 [GRCh38]
Chr5:7875448 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.516T>G (p.Pro172=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003049774] |
Chr5:7878058 [GRCh38]
Chr5:7878171 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1370+9del |
deletion |
Methylcobalamin deficiency type cblE [RCV003092368] |
Chr5:7891423 [GRCh38]
Chr5:7891536 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1520C>T (p.Ala507Val) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003069186] |
Chr5:7892876 [GRCh38]
Chr5:7892989 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.83T>C (p.Val28Ala) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002603228] |
Chr5:7870877 [GRCh38]
Chr5:7870990 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.901del (p.Ser301fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV002815149] |
Chr5:7883273 [GRCh38]
Chr5:7883386 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002680765] |
Chr5:7899936 [GRCh38]
Chr5:7900049 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.320G>A (p.Gly107Glu) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003153096] |
Chr5:7875294 [GRCh38]
Chr5:7875407 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002725733]|Neural tube defects, folate-sensitive [RCV003465817] |
Chr5:7886686 [GRCh38]
Chr5:7886799 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.753G>A (p.Gln251=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002609161] |
Chr5:7878295 [GRCh38]
Chr5:7878408 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-6_1953-2del |
deletion |
Inborn genetic diseases [RCV002680406] |
Chr5:7899908..7899912 [GRCh38]
Chr5:7900021..7900025 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.496G>T (p.Ala166Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003067851] |
Chr5:7878038 [GRCh38]
Chr5:7878151 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu) |
indel |
Methylcobalamin deficiency type cblE [RCV003070796] |
Chr5:7897205..7897206 [GRCh38]
Chr5:7897318..7897319 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.636G>C (p.Val212=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003093509] |
Chr5:7878178 [GRCh38]
Chr5:7878291 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1071C>T (p.Pro357=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003071029] |
Chr5:7886628 [GRCh38]
Chr5:7886741 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003072337] |
Chr5:7892908 [GRCh38]
Chr5:7893021 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1047_1049del (p.Lys352del) |
deletion |
Methylcobalamin deficiency type cblE [RCV002610880] |
Chr5:7885844..7885846 [GRCh38]
Chr5:7885957..7885959 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.183C>T (p.Gly61=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002613122] |
Chr5:7873426 [GRCh38]
Chr5:7873539 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+13C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002633800] |
Chr5:7897260 [GRCh38]
Chr5:7897373 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.652A>G (p.Asn218Asp) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003071955] |
Chr5:7878194 [GRCh38]
Chr5:7878307 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.2072G>A (p.Arg691His) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002943071] |
Chr5:7900033 [GRCh38]
Chr5:7900146 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003167582]|Methylcobalamin deficiency type cblE [RCV002653718] |
Chr5:7892810 [GRCh38]
Chr5:7892923 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1146+3A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV002589869] |
Chr5:7886706 [GRCh38]
Chr5:7886819 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.362G>A (p.Arg121Gln) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003132704] |
Chr5:7875336 [GRCh38]
Chr5:7875449 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1615C>T (p.Pro539Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003207510] |
Chr5:7895791 [GRCh38]
Chr5:7895904 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.658A>G (p.Ile220Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003203715] |
Chr5:7867426 [GRCh38]
Chr5:7867539 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.989C>G (p.Thr330Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003211469] |
Chr5:7867095 [GRCh38]
Chr5:7867208 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1676+2T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003143428] |
Chr5:7895854 [GRCh38]
Chr5:7895967 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1910C>T (p.Ala637Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003199352] |
Chr5:7897205 [GRCh38]
Chr5:7897318 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_024091.4(FASTKD3):c.1026A>G (p.Ile342Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003198490] |
Chr5:7867058 [GRCh38]
Chr5:7867171 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 |
copy number loss |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] |
Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_024091.4(FASTKD3):c.352T>C (p.Phe118Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003343467] |
Chr5:7867732 [GRCh38]
Chr5:7867845 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_024091.4(FASTKD3):c.1430G>A (p.Arg477Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003349554] |
Chr5:7866654 [GRCh38]
Chr5:7866767 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1805_1806delinsAAGATC (p.Leu602Ter) |
indel |
Neural tube defects, folate-sensitive [RCV003461980] |
Chr5:7897100..7897101 [GRCh38]
Chr5:7897213..7897214 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.-25-1G>A |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461982] |
Chr5:7870769 [GRCh38]
Chr5:7870882 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.596C>G (p.Ser199Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461988] |
Chr5:7878138 [GRCh38]
Chr5:7878251 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1508dup (p.Asn504fs) |
duplication |
Neural tube defects, folate-sensitive [RCV003461994] |
Chr5:7892862..7892863 [GRCh38]
Chr5:7892975..7892976 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_024091.4(FASTKD3):c.1150C>T (p.Leu384Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003352438] |
Chr5:7866934 [GRCh38]
Chr5:7867047 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.130-2A>G |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003470269] |
Chr5:7873371 [GRCh38]
Chr5:7873484 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.245C>T (p.Pro82Leu) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461984] |
Chr5:7873488 [GRCh38]
Chr5:7873601 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 |
copy number loss |
not provided [RCV003485448] |
Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| NM_002454.3(MTRR):c.129+11T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003875176] |
Chr5:7870934 [GRCh38]
Chr5:7871047 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+1G>A |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461990] |
Chr5:7897248 [GRCh38]
Chr5:7897361 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 |
copy number loss |
not provided [RCV003485453] |
Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_002454.3(MTRR):c.1943_1944del (p.Tyr648fs) |
deletion |
Neural tube defects, folate-sensitive [RCV003463064] |
Chr5:7897237..7897238 [GRCh38]
Chr5:7897350..7897351 [GRCh37]
Chr5:5p15.31 |
likely pathogenic|uncertain significance |
| NM_002454.3(MTRR):c.1474del (p.Trp492fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003873944] |
Chr5:7892830 [GRCh38]
Chr5:7892943 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1677-1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507512]|Neural tube defects, folate-sensitive [RCV003470272] |
Chr5:7896863 [GRCh38]
Chr5:7896976 [GRCh37]
Chr5:5p15.31 |
pathogenic|likely pathogenic |
| NM_002454.3(MTRR):c.701dup (p.Leu235fs) |
duplication |
Neural tube defects, folate-sensitive [RCV003470274] |
Chr5:7878238..7878239 [GRCh38]
Chr5:7878351..7878352 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 |
copy number loss |
not provided [RCV003485447] |
Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2 |
pathogenic |
| GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 |
copy number loss |
not provided [RCV003485449] |
Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3 |
pathogenic |
| GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 |
copy number loss |
not provided [RCV003485450] |
Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| NM_002454.3(MTRR):c.1677-2A>G |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461985] |
Chr5:7896862 [GRCh38]
Chr5:7896975 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.916dup (p.Ser306fs) |
duplication |
Neural tube defects, folate-sensitive [RCV003461986] |
Chr5:7885709..7885710 [GRCh38]
Chr5:7885822..7885823 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.324dup (p.Lys109fs) |
duplication |
Neural tube defects, folate-sensitive [RCV003461989] |
Chr5:7875292..7875293 [GRCh38]
Chr5:7875405..7875406 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 |
copy number gain |
not provided [RCV003484599] |
Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_002454.3(MTRR):c.1241del (p.Ser414fs) |
deletion |
Neural tube defects, folate-sensitive [RCV003463068] |
Chr5:7889189 [GRCh38]
Chr5:7889302 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.903+1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003486328] |
Chr5:7883278 [GRCh38]
Chr5:7883391 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1672dup (p.His558fs) |
duplication |
Neural tube defects, folate-sensitive [RCV003461981] |
Chr5:7895847..7895848 [GRCh38]
Chr5:7895960..7895961 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.781-2A>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003388704]|Neural tube defects, folate-sensitive [RCV003466073] |
Chr5:7883153 [GRCh38]
Chr5:7883266 [GRCh37]
Chr5:5p15.31 |
likely pathogenic|uncertain significance |
| NM_002454.3(MTRR):c.440G>A (p.Trp147Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461983] |
Chr5:7877982 [GRCh38]
Chr5:7878095 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.118G>T (p.Glu40Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461987] |
Chr5:7870912 [GRCh38]
Chr5:7871025 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.372T>G (p.Tyr124Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461991] |
Chr5:7875346 [GRCh38]
Chr5:7875459 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.568C>T (p.Gln190Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461992] |
Chr5:7878110 [GRCh38]
Chr5:7878223 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.524C>A (p.Ser175Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003461993] |
Chr5:7878066 [GRCh38]
Chr5:7878179 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1599_1606del (p.Asp534fs) |
deletion |
Neural tube defects, folate-sensitive [RCV003463063] |
Chr5:7895772..7895779 [GRCh38]
Chr5:7895885..7895892 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1057+1G>A |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003463065] |
Chr5:7885855 [GRCh38]
Chr5:7885968 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1496C>G (p.Ser499Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003463066] |
Chr5:7892852 [GRCh38]
Chr5:7892965 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1072del (p.Gln358fs) |
deletion |
Neural tube defects, folate-sensitive [RCV003463069] |
Chr5:7886626 [GRCh38]
Chr5:7886739 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.835del (p.Ser279fs) |
deletion |
Neural tube defects, folate-sensitive [RCV003463067] |
Chr5:7883207 [GRCh38]
Chr5:7883320 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.358del (p.Ala120fs) |
deletion |
Neural tube defects, folate-sensitive [RCV003470268] |
Chr5:7875332 [GRCh38]
Chr5:7875445 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.129+2T>G |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003470270] |
Chr5:7870925 [GRCh38]
Chr5:7871038 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1146+1G>A |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003470271] |
Chr5:7886704 [GRCh38]
Chr5:7886817 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.276del (p.Leu93fs) |
deletion |
Neural tube defects, folate-sensitive [RCV003470273] |
Chr5:7873517 [GRCh38]
Chr5:7873630 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1669C>T (p.Gln557Ter) |
single nucleotide variant |
Neural tube defects, folate-sensitive [RCV003470275] |
Chr5:7895845 [GRCh38]
Chr5:7895958 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.204A>G (p.Thr68=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003506818] |
Chr5:7873447 [GRCh38]
Chr5:7873560 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-9C>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508643] |
Chr5:7899905 [GRCh38]
Chr5:7900018 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.130-1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507115] |
Chr5:7873372 [GRCh38]
Chr5:7873485 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.904-16T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508807] |
Chr5:7885685 [GRCh38]
Chr5:7885798 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.924G>A (p.Gln308=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003876684] |
Chr5:7885721 [GRCh38]
Chr5:7885834 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.780+19A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003827095] |
Chr5:7878341 [GRCh38]
Chr5:7878454 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.369C>T (p.Phe123=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507564] |
Chr5:7875343 [GRCh38]
Chr5:7875456 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1327+1G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507681] |
Chr5:7889276 [GRCh38]
Chr5:7889389 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.591T>C (p.Asp197=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003878663] |
Chr5:7878133 [GRCh38]
Chr5:7878246 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.216T>C (p.Phe72=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003831901] |
Chr5:7873459 [GRCh38]
Chr5:7873572 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.283+13C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508365] |
Chr5:7873539 [GRCh38]
Chr5:7873652 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.279A>G (p.Leu93=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508292] |
Chr5:7873522 [GRCh38]
Chr5:7873635 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+20A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003879183] |
Chr5:7897267 [GRCh38]
Chr5:7897380 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.903+15T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507843] |
Chr5:7883292 [GRCh38]
Chr5:7883405 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-1G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507921] |
Chr5:7885700 [GRCh38]
Chr5:7885813 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.780+19del |
deletion |
Methylcobalamin deficiency type cblE [RCV003507974] |
Chr5:7878341 [GRCh38]
Chr5:7878454 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1558-15del |
deletion |
Methylcobalamin deficiency type cblE [RCV003508045] |
Chr5:7895719 [GRCh38]
Chr5:7895832 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.51C>G (p.Ala17=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507160] |
Chr5:7870845 [GRCh38]
Chr5:7870958 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1140T>C (p.Pro380=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508106] |
Chr5:7886697 [GRCh38]
Chr5:7886810 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.738C>T (p.Pro246=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508674] |
Chr5:7878280 [GRCh38]
Chr5:7878393 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1026T>G (p.Leu342=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507913] |
Chr5:7885823 [GRCh38]
Chr5:7885936 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2029C>T (p.Leu677=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003506931] |
Chr5:7899990 [GRCh38]
Chr5:7900103 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.324G>A (p.Gly108=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508794] |
Chr5:7875298 [GRCh38]
Chr5:7875411 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.908_909del (p.Thr303fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003830114] |
Chr5:7885704..7885705 [GRCh38]
Chr5:7885817..7885818 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.904-2A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003825216] |
Chr5:7885699 [GRCh38]
Chr5:7885812 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.558C>T (p.His186=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507168] |
Chr5:7878100 [GRCh38]
Chr5:7878213 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.263del (p.His88fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003507987] |
Chr5:7873506 [GRCh38]
Chr5:7873619 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.130-14T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003506756] |
Chr5:7873359 [GRCh38]
Chr5:7873472 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.972A>C (p.Val324=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003506886] |
Chr5:7885769 [GRCh38]
Chr5:7885882 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1428G>A (p.Leu476=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507516] |
Chr5:7892784 [GRCh38]
Chr5:7892897 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1677-7dup |
duplication |
Methylcobalamin deficiency type cblE [RCV003507588] |
Chr5:7896855..7896856 [GRCh38]
Chr5:7896968..7896969 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.438C>A (p.Leu146=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507682] |
Chr5:7877980 [GRCh38]
Chr5:7878093 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1668A>G (p.Leu556=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507723] |
Chr5:7895844 [GRCh38]
Chr5:7895957 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.781-6T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507760] |
Chr5:7883149 [GRCh38]
Chr5:7883262 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1328-12A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508644] |
Chr5:7891360 [GRCh38]
Chr5:7891473 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1370+20T>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003506942] |
Chr5:7891434 [GRCh38]
Chr5:7891547 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1077T>C (p.His359=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507069] |
Chr5:7886634 [GRCh38]
Chr5:7886747 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1560A>C (p.Ile520=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508752] |
Chr5:7895736 [GRCh38]
Chr5:7895849 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.780+17T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508445] |
Chr5:7878339 [GRCh38]
Chr5:7878452 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.402-1G>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507119] |
Chr5:7877943 [GRCh38]
Chr5:7878056 [GRCh37]
Chr5:5p15.31 |
likely pathogenic |
| NM_002454.3(MTRR):c.1677-11T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508802] |
Chr5:7896853 [GRCh38]
Chr5:7896966 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.861dup (p.Asp288Ter) |
duplication |
Methylcobalamin deficiency type cblE [RCV003507172] |
Chr5:7883234..7883235 [GRCh38]
Chr5:7883347..7883348 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.129+13A>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507569] |
Chr5:7870936 [GRCh38]
Chr5:7871049 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507696] |
Chr5:7889167 [GRCh38]
Chr5:7889280 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1328-13T>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508765] |
Chr5:7891359 [GRCh38]
Chr5:7891472 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1644C>T (p.Gly548=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003507781] |
Chr5:7895820 [GRCh38]
Chr5:7895933 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1866A>G (p.Ala622=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003824489] |
Chr5:7897161 [GRCh38]
Chr5:7897274 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1057+17T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508122] |
Chr5:7885871 [GRCh38]
Chr5:7885984 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.483G>A (p.Glu161=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003877359] |
Chr5:7878025 [GRCh38]
Chr5:7878138 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-19T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003828295] |
Chr5:7899895 [GRCh38]
Chr5:7900008 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1146+19T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508141] |
Chr5:7886722 [GRCh38]
Chr5:7886835 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+12_1952+16dup |
duplication |
Methylcobalamin deficiency type cblE [RCV003506763] |
Chr5:7897258..7897259 [GRCh38]
Chr5:7897371..7897372 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.441G>A (p.Trp147Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003508399] |
Chr5:7877983 [GRCh38]
Chr5:7878096 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.624G>A (p.Lys208=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003835222] |
Chr5:7878166 [GRCh38]
Chr5:7878279 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1328-13T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617443] |
Chr5:7891359 [GRCh38]
Chr5:7891472 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1770-14A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003619017] |
Chr5:7897051 [GRCh38]
Chr5:7897164 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1251A>C (p.Val417=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617524] |
Chr5:7889199 [GRCh38]
Chr5:7889312 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2037A>G (p.Ala679=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617554] |
Chr5:7899998 [GRCh38]
Chr5:7900111 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2037A>C (p.Ala679=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003834937] |
Chr5:7899998 [GRCh38]
Chr5:7900111 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1371-18G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617743] |
Chr5:7892709 [GRCh38]
Chr5:7892822 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.397_398del (p.Val133fs) |
microsatellite |
Methylcobalamin deficiency type cblE [RCV003618182] |
Chr5:7875368..7875369 [GRCh38]
Chr5:7875481..7875482 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1668A>C (p.Leu556=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618284] |
Chr5:7895844 [GRCh38]
Chr5:7895957 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1032A>G (p.Lys344=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618369] |
Chr5:7885829 [GRCh38]
Chr5:7885942 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2079T>G (p.Leu693=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618734] |
Chr5:7900040 [GRCh38]
Chr5:7900153 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+17C>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618859] |
Chr5:7897264 [GRCh38]
Chr5:7897377 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.401+17C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618985] |
Chr5:7875392 [GRCh38]
Chr5:7875505 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-14_1953-12del |
microsatellite |
Methylcobalamin deficiency type cblE [RCV003618988] |
Chr5:7899895..7899897 [GRCh38]
Chr5:7900008..7900010 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.284-17del |
deletion |
Methylcobalamin deficiency type cblE [RCV003619045] |
Chr5:7875241 [GRCh38]
Chr5:7875354 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.984C>T (p.Leu328=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003619064] |
Chr5:7885781 [GRCh38]
Chr5:7885894 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+20A>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617315] |
Chr5:7870943 [GRCh38]
Chr5:7871056 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1769+9C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618811] |
Chr5:7896965 [GRCh38]
Chr5:7897078 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-15T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617417] |
Chr5:7899899 [GRCh38]
Chr5:7900012 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1824C>G (p.Ser608=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618323] |
Chr5:7897119 [GRCh38]
Chr5:7897232 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+10T>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617490] |
Chr5:7897257 [GRCh38]
Chr5:7897370 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1558-14A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618897] |
Chr5:7895720 [GRCh38]
Chr5:7895833 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.903+9C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617555] |
Chr5:7883286 [GRCh38]
Chr5:7883399 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1370+12T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003815178] |
Chr5:7891426 [GRCh38]
Chr5:7891539 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617567] |
Chr5:7873375 [GRCh38]
Chr5:7873488 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1328-6T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618307] |
Chr5:7891366 [GRCh38]
Chr5:7891479 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-16T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003619013] |
Chr5:7899898 [GRCh38]
Chr5:7900011 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1557+16C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618791] |
Chr5:7892929 [GRCh38]
Chr5:7893042 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.678C>T (p.Ser226=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618786] |
Chr5:7878220 [GRCh38]
Chr5:7878333 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1371-17T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617642] |
Chr5:7892710 [GRCh38]
Chr5:7892823 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2088T>A (p.Ile696=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618471] |
Chr5:7900049 [GRCh38]
Chr5:7900162 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1386C>T (p.His462=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617366] |
Chr5:7892742 [GRCh38]
Chr5:7892855 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1632T>C (p.Gly544=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617388] |
Chr5:7895808 [GRCh38]
Chr5:7895921 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.129+12T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617708] |
Chr5:7870935 [GRCh38]
Chr5:7871048 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.401+17C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618577] |
Chr5:7875392 [GRCh38]
Chr5:7875505 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1920C>T (p.Leu640=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617422] |
Chr5:7897215 [GRCh38]
Chr5:7897328 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1057+12G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617773] |
Chr5:7885866 [GRCh38]
Chr5:7885979 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.858G>T (p.Thr286=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618682] |
Chr5:7883232 [GRCh38]
Chr5:7883345 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.284-17G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618176] |
Chr5:7875241 [GRCh38]
Chr5:7875354 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.284-6C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618200] |
Chr5:7875252 [GRCh38]
Chr5:7875365 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.57A>C (p.Ala19=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618224] |
Chr5:7870851 [GRCh38]
Chr5:7870964 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1887C>T (p.Ile629=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618736] |
Chr5:7897182 [GRCh38]
Chr5:7897295 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1728G>A (p.Leu576=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617354] |
Chr5:7896915 [GRCh38]
Chr5:7897028 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1327+19A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617374] |
Chr5:7889294 [GRCh38]
Chr5:7889407 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.420G>A (p.Glu140=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617342] |
Chr5:7877962 [GRCh38]
Chr5:7878075 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.678C>G (p.Ser226=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618781] |
Chr5:7878220 [GRCh38]
Chr5:7878333 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1479G>A (p.Leu493=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617410] |
Chr5:7892835 [GRCh38]
Chr5:7892948 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.981A>G (p.Leu327=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617462] |
Chr5:7885778 [GRCh38]
Chr5:7885891 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.882G>A (p.Leu294=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618554] |
Chr5:7883256 [GRCh38]
Chr5:7883369 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.402-18T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618836] |
Chr5:7877926 [GRCh38]
Chr5:7878039 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.762G>A (p.Leu254=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617480] |
Chr5:7878304 [GRCh38]
Chr5:7878417 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1884C>T (p.Asn628=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617565] |
Chr5:7897179 [GRCh38]
Chr5:7897292 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.345T>G (p.Leu115=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617467] |
Chr5:7875319 [GRCh38]
Chr5:7875432 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1327+8G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617527] |
Chr5:7889283 [GRCh38]
Chr5:7889396 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1146+13G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617712] |
Chr5:7886716 [GRCh38]
Chr5:7886829 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1371-11dup |
duplication |
Methylcobalamin deficiency type cblE [RCV003617641] |
Chr5:7892715..7892716 [GRCh38]
Chr5:7892828..7892829 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.582G>A (p.Leu194=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617735] |
Chr5:7878124 [GRCh38]
Chr5:7878237 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1796A>G (p.His599Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618185] |
Chr5:7897091 [GRCh38]
Chr5:7897204 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1327+20A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618225] |
Chr5:7889295 [GRCh38]
Chr5:7889408 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.130-20T>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618567] |
Chr5:7873353 [GRCh38]
Chr5:7873466 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.130-17A>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618572] |
Chr5:7873356 [GRCh38]
Chr5:7873469 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.177C>T (p.Thr59=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618574] |
Chr5:7873420 [GRCh38]
Chr5:7873533 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.165T>C (p.Val55=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618576] |
Chr5:7873408 [GRCh38]
Chr5:7873521 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-12G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003619094] |
Chr5:7885689 [GRCh38]
Chr5:7885802 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.472A>C (p.Arg158=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003850687] |
Chr5:7878014 [GRCh38]
Chr5:7878127 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1328-8T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617361] |
Chr5:7891364 [GRCh38]
Chr5:7891477 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1953-18T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617377] |
Chr5:7899896 [GRCh38]
Chr5:7900009 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1524C>T (p.Ser508=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618204] |
Chr5:7892880 [GRCh38]
Chr5:7892993 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.438C>G (p.Leu146=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618216] |
Chr5:7877980 [GRCh38]
Chr5:7878093 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1983T>C (p.His661=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618600] |
Chr5:7899944 [GRCh38]
Chr5:7900057 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.227del (p.Ile76fs) |
deletion |
Methylcobalamin deficiency type cblE [RCV003617420] |
Chr5:7873470 [GRCh38]
Chr5:7873583 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1953-20C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618262] |
Chr5:7899894 [GRCh38]
Chr5:7900007 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1545C>T (p.Ala515=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618869] |
Chr5:7892901 [GRCh38]
Chr5:7893014 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1147-17C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618884] |
Chr5:7889078 [GRCh38]
Chr5:7889191 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.903+17_903+20del |
microsatellite |
Methylcobalamin deficiency type cblE [RCV003618320] |
Chr5:7883290..7883293 [GRCh38]
Chr5:7883403..7883406 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1113C>T (p.Thr371=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618348] |
Chr5:7886670 [GRCh38]
Chr5:7886783 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1506G>A (p.Gln502=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617681] |
Chr5:7892862 [GRCh38]
Chr5:7892975 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.780+17T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618923] |
Chr5:7878339 [GRCh38]
Chr5:7878452 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.915T>C (p.Phe305=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003815999] |
Chr5:7885712 [GRCh38]
Chr5:7885825 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1057+9_1057+16del |
deletion |
Methylcobalamin deficiency type cblE [RCV003618418] |
Chr5:7885861..7885868 [GRCh38]
Chr5:7885974..7885981 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1147-14G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618952] |
Chr5:7889081 [GRCh38]
Chr5:7889194 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.2049G>C (p.Leu683=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618954] |
Chr5:7900010 [GRCh38]
Chr5:7900123 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1327+11G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003619122] |
Chr5:7889286 [GRCh38]
Chr5:7889399 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1147-15G>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003619129] |
Chr5:7889080 [GRCh38]
Chr5:7889193 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.360C>T (p.Ala120=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003617791] |
Chr5:7875334 [GRCh38]
Chr5:7875447 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.130-18G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618858] |
Chr5:7873355 [GRCh38]
Chr5:7873468 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.51C>T (p.Ala17=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003618866] |
Chr5:7870845 [GRCh38]
Chr5:7870958 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1952+11A>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003859278] |
Chr5:7897258 [GRCh38]
Chr5:7897371 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.309C>T (p.Tyr103=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003862069] |
Chr5:7875283 [GRCh38]
Chr5:7875396 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1016A>G (p.His339Arg) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003872510] |
Chr5:7885813 [GRCh38]
Chr5:7885926 [GRCh37]
Chr5:5p15.31 |
uncertain significance |
| NM_002454.3(MTRR):c.1878A>G (p.Gln626=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003871408] |
Chr5:7897173 [GRCh38]
Chr5:7897286 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 |
copy number loss |
not specified [RCV003986544] |
Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_002454.3(MTRR):c.525G>A (p.Ser175=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003871453] |
Chr5:7878067 [GRCh38]
Chr5:7878180 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 |
copy number loss |
not specified [RCV003986593] |
Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3 |
pathogenic |
| GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 |
copy number loss |
not specified [RCV003986598] |
Chr5:3272715..17317051 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 |
copy number loss |
not specified [RCV003986560] |
Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1 |
pathogenic |
| NM_002454.3(MTRR):c.1558-17T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003872171] |
Chr5:7895717 [GRCh38]
Chr5:7895830 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1923C>T (p.Leu641=) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003872213] |
Chr5:7897218 [GRCh38]
Chr5:7897331 [GRCh37]
Chr5:5p15.31 |
likely benign |
| GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 |
copy number loss |
not specified [RCV003986589] |
Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1 |
pathogenic |
| GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 |
copy number loss |
not specified [RCV003986599] |
Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2 |
pathogenic |
| GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 |
copy number loss |
not specified [RCV003986556] |
Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3 |
pathogenic |
| NM_002454.3(MTRR):c.467C>G (p.Ser156Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003842431] |
Chr5:7878009 [GRCh38]
Chr5:7878122 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.903+7T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003866445] |
Chr5:7883284 [GRCh38]
Chr5:7883397 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.283+15C>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003867873] |
Chr5:7873541 [GRCh38]
Chr5:7873654 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.284-18T>C |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003847563] |
Chr5:7875240 [GRCh38]
Chr5:7875353 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-19C>T |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003848626] |
Chr5:7885682 [GRCh38]
Chr5:7885795 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.401+14T>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003820762] |
Chr5:7875389 [GRCh38]
Chr5:7875502 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1370+2TAC[3] |
microsatellite |
Methylcobalamin deficiency type cblE [RCV003866338] |
Chr5:7891415..7891416 [GRCh38]
Chr5:7891528..7891529 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1770-12A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003822597] |
Chr5:7897053 [GRCh38]
Chr5:7897166 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.904-18A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003821130] |
Chr5:7885683 [GRCh38]
Chr5:7885796 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter) |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003822840] |
Chr5:7873375 [GRCh38]
Chr5:7873488 [GRCh37]
Chr5:5p15.31 |
pathogenic |
| NM_002454.3(MTRR):c.1558-12G>A |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003842811] |
Chr5:7895722 [GRCh38]
Chr5:7895835 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.1769+11A>G |
single nucleotide variant |
Methylcobalamin deficiency type cblE [RCV003861678] |
Chr5:7896967 [GRCh38]
Chr5:7897080 [GRCh37]
Chr5:5p15.31 |
likely benign |
| NM_002454.3(MTRR):c.-45G>T |
single nucleotide variant |
MTRR-related condition [RCV003964708] |
Chr5:7869196 [GRCh38]
Chr5:7869309 [GRCh37]
Chr5:5p15.31 |
likely benign |
