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カテコラミン誘発性多形性心室頻拍
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_001035.3(RYR2):c.11995A>T (p.Met3999Leu) | RYR2 | Pathogenic | 1 | 237947007 | 237947007 | A | T | criteria provided, single submitter | ClinGen:CA007316 |
| single nucleotide variant | NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser) | RYR2 | Likely pathogenic | 1 | 237947280 | 237947280 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007392 |
| single nucleotide variant | NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) | RYR2 | Pathogenic | 1 | 237947284 | 237947284 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007418 |
| single nucleotide variant | NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) | RYR2 | Likely pathogenic | 1 | 237947313 | 237947313 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007454 |
| single nucleotide variant | NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) | RYR2 | Pathogenic | 1 | 237947384 | 237947384 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007482 |
| single nucleotide variant | NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) | RYR2 | Pathogenic | 1 | 237947482 | 237947482 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007532 |
| single nucleotide variant | NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237947545 | 237947545 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007573 |
| single nucleotide variant | NM_001035.3(RYR2):c.12583G>A (p.Asp4195Asn) | RYR2 | Likely pathogenic | 1 | 237947595 | 237947595 | G | A | criteria provided, single submitter | ClinGen:CA007613 |
| single nucleotide variant | NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser) | RYR2 | Likely pathogenic | 1 | 237954780 | 237954780 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007958 |
| single nucleotide variant | NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237969536 | 237969536 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008192 |
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