Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000344.4(SMN1):c.5C>G (p.Ala2Gly) | SMN1 | Pathogenic | 5 | 70220935 | 70220935 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA254681,UniProtKB:Q16637#VAR_005615,OMIM:600354.0006 |
single nucleotide variant | NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys) | SMN1 | Pathogenic/Likely pathogenic | 5 | 70241984 | 70241984 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA254677,UniProtKB:Q16637#VAR_005617,OMIM:600354.0004 |
single nucleotide variant | NM_000344.4(SMN1):c.785G>T (p.Ser262Ile) | SMN1 | Pathogenic/Likely pathogenic | 5 | 70241954 | 70241954 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA254675,UniProtKB:Q16637#VAR_005616,OMIM:600354.0003 |