single nucleotide variant | NM_000132.4(F8):c.1649G>A (p.Arg550His) | F8 | Pathogenic | X | 154185335 | 154185335 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA255115,UniProtKB:P00451#VAR_001110,OMIM:300841.0142 |
single nucleotide variant | NM_000132.4(F8):c.1654T>C (p.Tyr552His) | F8 | Likely pathogenic | X | 154185330 | 154185330 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.1660A>G (p.Ser554Gly) | F8 | Pathogenic/Likely pathogenic | X | 154185324 | 154185324 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA255116,UniProtKB:P00451#VAR_001111,OMIM:300841.0143 |
single nucleotide variant | NM_000132.4(F8):c.1700T>C (p.Ile567Thr) | F8 | Likely pathogenic | X | 154185284 | 154185284 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.1778T>A (p.Ile593Asn) | F8 | Likely pathogenic | X | 154182292 | 154182292 | A | T | criteria provided, single submitter | ClinGen:CA414911137 |
single nucleotide variant | NM_000132.4(F8):c.1804C>G (p.Arg602Gly) | F8 | Pathogenic/Likely pathogenic | X | 154182266 | 154182266 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000132.4(F8):c.1804C>T (p.Arg602Ter) | F8 | Pathogenic | X | 154182266 | 154182266 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255124,OMIM:300841.0149 |
single nucleotide variant | NM_000132.4(F8):c.1834C>T (p.Arg612Cys) | F8 | Pathogenic | X | 154182236 | 154182236 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA255129,UniProtKB:P00451#VAR_001120,OMIM:300841.0153 |
Deletion | NM_000132.4(F8):c.1894del (p.Ile632fs) | F8 | Likely pathogenic | X | 154182176 | 154182176 | AT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000132.4(F8):c.1898T>G (p.Met633Arg) | F8 | Likely pathogenic | X | 154182172 | 154182172 | A | C | criteria provided, single submitter | - |