Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) | ATM | Pathogenic | 11 | 108236203 | 108236203 | C | T | reviewed by expert panel | ClinGen:CA115937,OMIM:607585.0012 |
single nucleotide variant | NM_000051.4(ATM):c.103C>T (p.Arg35Ter) | ATM | Pathogenic/Likely pathogenic | 11 | 108098533 | 108098533 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA166087,OMIM:607585.0008 |
single nucleotide variant | NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) | ATM | Pathogenic | 11 | 108199929 | 108199929 | T | G | reviewed by expert panel | ClinGen:CA115930,UniProtKB:Q13315#VAR_010854,OMIM:607585.0005 |
single nucleotide variant | NM_000051.4(ATM):c.5763-1050A>G | ATM | Pathogenic/Likely pathogenic | 11 | 108179837 | 108179837 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA115927,OMIM:607585.0004 |
Deletion | NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) | ATM | Pathogenic/Likely pathogenic | 11 | 108202612 | 108202620 | CTCTAGAATT | C | criteria provided, multiple submitters, no conflicts | OMIM:607585.0002,OMIM:607585.0007,ClinGen:CA115924 |