single nucleotide variant | NM_000313.4(PROS1):c.1155+5G>A | PROS1 | Pathogenic/Likely pathogenic | 3 | 93611772 | 93611772 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter) | PROS1 | Pathogenic/Likely pathogenic | 3 | 93596000 | 93596000 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter) | PROS1 | Pathogenic/Likely pathogenic | 3 | 93603713 | 93603713 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA78477958 |
single nucleotide variant | NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys) | PROS1 | Pathogenic/Likely pathogenic | 3 | 93611869 | 93611869 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:176880.0009,ClinGen:CA128688 |
Deletion | NM_000313.4(PROS1):c.785del (p.Gly262fs) | PROS1 | Pathogenic | 3 | 93617356 | 93617356 | AC | A | criteria provided, single submitter | - |
Deletion | NM_000313.4(PROS1):c.1908del (p.Phe635_Tyr636insTer) | PROS1 | Pathogenic | 3 | 93593212 | 93593212 | TA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) | PROS1 | Pathogenic | 3 | 93593204 | 93593204 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg) | PROS1 | Pathogenic | 3 | 93593124 | 93593124 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000313.4(PROS1):c.77-1G>C | PROS1 | Pathogenic | 3 | 93646252 | 93646252 | C | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000313.4(PROS1):c.252del (p.Lys84fs) | PROS1 | Pathogenic | 3 | 93643091 | 93643091 | AT | A | criteria provided, multiple submitters, no conflicts | - |