Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Indel | NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) | RB1 | Pathogenic | 13 | 48878067 | 48878069 | CGA | GG | criteria provided, single submitter | ClinGen:CA645369600 |
Duplication | NM_000321.3(RB1):c.19dup (p.Arg7fs) | RB1 | Pathogenic | 13 | 48878061 | 48878062 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA609859297 |
Duplication | NM_000321.3(RB1):c.9_42dup (p.Ala15fs) | RB1 | Pathogenic | 13 | 48878050 | 48878051 | T | TGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACC | criteria provided, single submitter | ClinGen:CA645369599 |
single nucleotide variant | NM_000321.2(RB1):c.-198G>A | RB1 | Pathogenic | 13 | 48877851 | 48877851 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA026385,OMIM:614041.0018 |