Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs) | PKD1 | Likely pathogenic | 16 | 2140021 | 2140048 | CTTGTCCCCAGCCGGCCCAGGCTCACGCT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) | PKD1 | Pathogenic | 16 | 2139958 | 2139958 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA119367,OMIM:601313.0004 |
single nucleotide variant | NM_001009944.3(PKD1):c.12683G>C (p.Arg4228Pro) | PKD1 | Likely pathogenic | 16 | 2139957 | 2139957 | C | G | criteria provided, single submitter | ClinGen:CA16621682 |
single nucleotide variant | NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) | PKD1 | Pathogenic/Likely pathogenic | 16 | 2139949 | 2139949 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001009944.3(PKD1):c.12676_12693del (p.Phe4226_Gln4231del) | PKD1 | Likely pathogenic | 16 | 2139947 | 2139964 | CCTGGTTGAGTCGGTCAAA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) | PKD1 | Pathogenic | 16 | 2139928 | 2139928 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA394320489 |
single nucleotide variant | NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) | PKD1 | Likely pathogenic | 16 | 2139916 | 2139916 | G | A | criteria provided, multiple submitters, no conflicts | - |