Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) | 4548 | MTR | Pathogenic | 121913582 | RCV000015358; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 236998886 | 236998886 | NM_000254.2:c.1228G>C | NP_000245.2:p.Ala410Pro | NC_000001.10:g.236998886G>C | OMIM Allelic Variant:156570.0011 | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |
NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) | 4548 | MTR | Pathogenic | 121913580 | RCV000015356; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 237015878 | 237015878 | NM_000254.2:c.1753C>T | NP_000245.2:p.Arg585Ter | NC_000001.10:g.237015878C>T | OMIM Allelic Variant:156570.0009 | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |
NM_000254.2(MTR):c.2114_2115delTC (p.Leu705Glnfs) | 4548 | MTR | Pathogenic | 797044444 | RCV000015352; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 237024495 | 237024496 | NM_000254.2:c.2114_2115delTC | NP_000245.2:p.Leu705Glnfs | NC_000001.10:g.237024495_237024496delTC | OMIM Allelic Variant:156570.0005 | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |
NM_000254.2(MTR):c.2640_2642delAAT (p.Ile881del) | 4548 | MTR | Pathogenic | 797044443 | RCV000015349; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 237044100 | 237044102 | NM_000254.2:c.2640_2642delAAT | NP_000245.2:p.Ile881del | NC_000001.10:g.237044100_237044102delAAT | OMIM Allelic Variant:156570.0002 | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |
NM_000254.2(MTR):c.2669_2670delTG (p.Val890Glyfs) | 4548 | MTR | Pathogenic | 794727395 | RCV000176521; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 237044129 | 237044130 | NM_000254.2:c.2669_2670delTG | NP_000245.2:p.Val890Glyfs | NC_000001.10:g.237044129_237044130delTG | - | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |
NM_000254.2(MTR):c.2758C>G (p.His920Asp) | 4548 | MTR | Pathogenic | 121913579 | RCV000015350; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 237048502 | 237048502 | NM_000254.2:c.2758C>G | NP_000245.2:p.His920Asp | NC_000001.10:g.237048502C>G | OMIM Allelic Variant:156570.0003 | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |
NM_000254.2(MTR):c.3380dupA (p.Ala1128Glyfs) | 4548 | MTR | Pathogenic | 797044445 | RCV000015354; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 237057832 | 237057832 | NM_000254.2:c.3380dupA | NP_000245.2:p.Ala1128Glyfs | NC_000001.10:g.237057832dupA | OMIM Allelic Variant:156570.0007 | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) | 4548 | MTR | Likely pathogenic;Pathogenic | 121913578 | RCV000015348; RCV000162189; RCV000210576; | N | Human Phenotype Ontology:HP:0002187,MedGen:C0020796; MedGen:C0950123; MedGen:C1855128,OMIM:250940,ORPHA:2170; MedGen:CN228288 | 1 | 237058770 | 237058770 | NM_000254.2:c.3518C>T | NP_000245.2:p.Pro1173Leu | NC_000001.10:g.237058770C>T | OMIM Allelic Variant:156570.0001 | C0950123 Inborn genetic diseases; C0020796 Intellectual disability, profound; C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE; CN228288 Seizure disorder | | |
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) | 4548 | MTR | Pathogenic | 121913581 | RCV000015357; | N | MedGen:C1855128,OMIM:250940,ORPHA:2170 | 1 | 237060320 | 237060320 | NM_000254.2:c.3613G>T | NP_000245.2:p.Glu1205Ter | NC_000001.10:g.237060320G>T | OMIM Allelic Variant:156570.0010 | C1855128 250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE | | |