single nucleotide variant | NM_004415.4(DSP):c.423-1G>T | DSP | Pathogenic/Likely pathogenic | 6 | 7559458 | 7559458 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA362671945 |
Deletion | NM_004415.4(DSP):c.465del (p.Ile156fs) | DSP | Pathogenic | 6 | 7559500 | 7559500 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657574 |
single nucleotide variant | NM_004415.4(DSP):c.478C>T (p.Arg160Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7559514 | 7559514 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006226 |
Indel | NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) | DSP | Likely pathogenic | 6 | 7559527 | 7559528 | CC | AGCTCGAGTCCCTCG | criteria provided, single submitter | ClinGen:CA006266 |
Indel | NM_004415.3(DSP):c.491_492delCCins15 (p.?) | DSP | Pathogenic | 6 | 7559527 | 7559528 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004415.4(DSP):c.523C>T (p.Gln175Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7559559 | 7559559 | C | T | criteria provided, multiple submitters, no conflicts | - |
Insertion | NM_004415.4(DSP):c.534_535insA (p.Gly179fs) | DSP | Likely pathogenic | 6 | 7559570 | 7559571 | T | TA | criteria provided, single submitter | ClinGen:CA006444 |
single nucleotide variant | NM_004415.4(DSP):c.699G>A (p.Trp233Ter) | DSP | Pathogenic/Likely pathogenic | 6 | 7562986 | 7562986 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007098 |
Duplication | NM_004415.4(DSP):c.712dup (p.Ile238fs) | DSP | Pathogenic/Likely pathogenic | 6 | 7562995 | 7562996 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA007149 |
single nucleotide variant | NM_004415.4(DSP):c.778-2A>G | DSP | Likely pathogenic | 6 | 7565590 | 7565590 | A | G | criteria provided, multiple submitters, no conflicts | - |