Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001130823.2(DNMT1):c.1816G>T (p.Val606Phe) | 1786 | DNMT1 | Pathogenic | 397509391 | RCV000043631; | N | MedGen:C1858804,OMIM:604121 | 19 | 10265278 | 10265278 | NM_001130823.2:c.1816G>T | NP_001124295.1:p.Val606Phe | NC_000019.9:g.10265278C>A | OMIM Allelic Variant:126375.0003 | C1858804 604121 Cerebellar ataxia, deafness, and narcolepsy | | |
NM_001130823.2(DNMT1):c.1814G>C (p.Gly605Ala) | 1786 | DNMT1 | Pathogenic | 397509393 | RCV000043633; | N | MedGen:C1858804,OMIM:604121 | 19 | 10265280 | 10265280 | NM_001130823.2:c.1814G>C | NP_001124295.1:p.Gly605Ala | NC_000019.9:g.10265280C>G | OMIM Allelic Variant:126375.0005 | C1858804 604121 Cerebellar ataxia, deafness, and narcolepsy | | |
NM_001130823.2(DNMT1):c.1709C>T (p.Ala570Val) | 1786 | DNMT1 | Pathogenic | 397509392 | RCV000043632; | N | MedGen:C1858804,OMIM:604121 | 19 | 10265385 | 10265385 | NM_001130823.2:c.1709C>T | NP_001124295.1:p.Ala570Val | NC_000019.9:g.10265385G>A | OMIM Allelic Variant:126375.0004 | C1858804 604121 Cerebellar ataxia, deafness, and narcolepsy | | |