Duplication | NM_003322.6(TULP1):c.524dup (p.Pro176fs) | TULP1 | Pathogenic | 6 | 35477680 | 35477681 | T | TG | criteria provided, single submitter | - |
Deletion | NM_003322.6(TULP1):c.725_728del (p.Pro242fs) | TULP1 | Pathogenic | 6 | 35477080 | 35477083 | TTTGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA275433 |
Deletion | NM_003322.6(TULP1):c.845del (p.Pro282fs) | TULP1 | Pathogenic | 6 | 35473934 | 35473934 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602945 |
Duplication | NM_003322.6(TULP1):c.855dup (p.Val286fs) | TULP1 | Likely pathogenic | 6 | 35473923 | 35473924 | C | CG | criteria provided, single submitter | ClinGen:CA658796759 |
Deletion | NM_003322.6(TULP1):c.901del (p.Gln301fs) | TULP1 | Pathogenic | 6 | 35473878 | 35473878 | TG | T | criteria provided, single submitter | ClinGen:CA227718 |
single nucleotide variant | NM_003322.6(TULP1):c.1024C>T (p.Arg342Ter) | TULP1 | Pathogenic/Likely pathogenic | 6 | 35473606 | 35473606 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA363779845 |
single nucleotide variant | NM_003322.6(TULP1):c.1102G>T (p.Gly368Trp) | TULP1 | Pathogenic | 6 | 35473528 | 35473528 | C | A | criteria provided, single submitter | ClinGen:CA259775,UniProtKB:O00294#VAR_065500,OMIM:602280.0012 |
single nucleotide variant | NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) | TULP1 | Pathogenic | 6 | 35471593 | 35471593 | A | G | criteria provided, single submitter | ClinGen:CA254156,UniProtKB:O00294#VAR_037584,OMIM:602280.0006 |
single nucleotide variant | NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp) | TULP1 | Pathogenic | 6 | 35471540 | 35471540 | G | A | criteria provided, single submitter | ClinGen:CA259774,UniProtKB:O00294#VAR_065501,OMIM:602280.0011 |
single nucleotide variant | NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) | TULP1 | Pathogenic | 6 | 35471400 | 35471400 | C | G | criteria provided, single submitter | ClinGen:CA227700,UniProtKB:O00294#VAR_007941,OMIM:602280.0001 |