Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_138694.4(PKHD1):c.8832del (p.Arg2945fs) | PKHD1 | Likely pathogenic | 6 | 51618117 | 51618117 | GA | G | criteria provided, single submitter | ClinGen:CA16041035 |
Deletion | NM_138694.4(PKHD1):c.8958del (p.Gln2987fs) | PKHD1 | Likely pathogenic | 6 | 51613456 | 51613456 | GA | G | criteria provided, single submitter | ClinGen:CA16041034 |
Duplication | NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs) | PKHD1 | Likely pathogenic | 6 | 51612940 | 51612941 | C | CATGG | criteria provided, single submitter | ClinGen:CA16041033 |
Deletion | NM_138694.4(PKHD1):c.9743del (p.Phe3248fs) | PKHD1 | Likely pathogenic | 6 | 51612671 | 51612671 | GA | G | criteria provided, single submitter | ClinGen:CA3851347 |
Duplication | NM_138694.4(PKHD1):c.9856_9859dup (p.Cys3287Ter) | PKHD1 | Likely pathogenic | 6 | 51611657 | 51611658 | C | CAACT | criteria provided, single submitter | ClinGen:CA16041030 |
Deletion | NM_138694.4(PKHD1):c.10186_10190del (p.Tyr3396fs) | PKHD1 | Likely pathogenic | 6 | 51524734 | 51524738 | TTGGTA | T | criteria provided, single submitter | ClinGen:CA3851132 |
Duplication | NM_138694.4(PKHD1):c.10199dup (p.Met3400fs) | PKHD1 | Likely pathogenic | 6 | 51524724 | 51524725 | C | CA | criteria provided, single submitter | ClinGen:CA16041028 |
Deletion | NM_138694.4(PKHD1):c.10418del (p.Phe3473fs) | PKHD1 | Likely pathogenic | 6 | 51524506 | 51524506 | GA | G | criteria provided, single submitter | ClinGen:CA16041027 |
Duplication | NM_138694.4(PKHD1):c.10461dup (p.Asn3488fs) | PKHD1 | Likely pathogenic | 6 | 51524462 | 51524463 | T | TC | criteria provided, single submitter | ClinGen:CA16041026 |
Deletion | NM_138694.4(PKHD1):c.10826del (p.Lys3609fs) | PKHD1 | Likely pathogenic | 6 | 51524098 | 51524098 | CT | C | criteria provided, single submitter | ClinGen:CA16041024 |