Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NC_000013.11:g.(?_48307270)_(48349033_?)del | RB1 | Pathogenic | 13 | 48881406 | 48923169 | na | na | criteria provided, single submitter | - |
Duplication | NM_000321.3(RB1):c.2473dup (p.Met825fs) | RB1 | Pathogenic | 13 | 49039483 | 49039484 | C | CA | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.2405_2414del (p.Gly802fs) | RB1 | Pathogenic | 13 | 49039420 | 49039429 | GGGAACATCTA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.2339C>G (p.Ser780Ter) | RB1 | Pathogenic | 13 | 49039354 | 49039354 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.2284C>T (p.Gln762Ter) | RB1 | Pathogenic | 13 | 49039206 | 49039206 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000321.3(RB1):c.2206C>T (p.Gln736Ter) | RB1 | Pathogenic | 13 | 49037966 | 49037966 | C | T | criteria provided, single submitter | - |
Indel | NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs) | RB1 | Pathogenic | 13 | 49037920 | 49037927 | ATTCAAAA | C | criteria provided, single submitter | - |
Duplication | NM_000321.3(RB1):c.2131dup (p.Ile711fs) | RB1 | Pathogenic | 13 | 49037890 | 49037891 | C | CA | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.1978_1996del (p.Leu660fs) | RB1 | Pathogenic | 13 | 49033840 | 49033858 | ATCTCCGGCTAAATACACTT | A | criteria provided, single submitter | - |
Deletion | NM_000321.3(RB1):c.1950_1953del (p.Phe650fs) | RB1 | Pathogenic | 13 | 49030474 | 49030477 | TTTTA | T | criteria provided, single submitter | - |