Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000130.5(F5):c.2862del (p.Ser955fs) | F5 | Likely pathogenic | 1 | 169511466 | 169511466 | TA | T | criteria provided, single submitter | OMIM:612309.0010 |
Deletion | NM_000130.5(F5):c.3170_3174del (p.Asn1057fs) | F5 | Likely pathogenic | 1 | 169511154 | 169511158 | ATGTGT | A | criteria provided, single submitter | - |
Duplication | NM_000130.5(F5):c.5403dup (p.Ser1802fs) | F5 | Likely pathogenic | 1 | 169498861 | 169498862 | A | AT | criteria provided, single submitter | ClinGen:CA1233514 |
single nucleotide variant | NM_000130.5(F5):c.2218C>T (p.Arg740Ter) | F5 | Likely pathogenic | 1 | 169512110 | 169512110 | G | A | criteria provided, single submitter | ClinGen:CA10608192 |
single nucleotide variant | NM_000130.5(F5):c.6304C>T (p.Arg2102Cys) | F5 | Likely pathogenic | 1 | 169487691 | 169487691 | G | A | criteria provided, single submitter | ClinGen:CA251559,UniProtKB:P12259#VAR_032701,OMIM:612309.0012 |