Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000128.4(F11):c.25_28del (p.His9fs) | F11 | Likely pathogenic | 4 | 187188315 | 187188318 | ACATT | A | criteria provided, single submitter | ClinGen:CA16040939 |
single nucleotide variant | NM_000128.4(F11):c.16C>T (p.Gln6Ter) | F11 | Likely pathogenic | 4 | 187188306 | 187188306 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000128.4(F11):c.3G>T (p.Met1Ile) | F11 | Likely pathogenic | 4 | 187188293 | 187188293 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA112146686 |
single nucleotide variant | NM_000128.4(F11):c.2T>A (p.Met1Lys) | F11 | Likely pathogenic | 4 | 187188292 | 187188292 | T | A | criteria provided, single submitter | - |
Deletion | Single allele | F11 | Likely pathogenic | 4 | 187186066 | 187210839 | na | na | criteria provided, single submitter | - |
Deletion | NC_000004.12:g.(?_185684754)_(186709827_?)del | F11 | Pathogenic | 4 | 186605908 | 187630981 | na | na | criteria provided, single submitter | - |