Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_002528.7(NTHL1):c.259C>T (p.Gln87Ter) | NTHL1 | Pathogenic | 16 | 2096224 | 2096224 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter) | NTHL1 | Pathogenic | 16 | 2096323 | 2096323 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_002528.7(NTHL1):c.526-1G>A | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2093728 | 2093728 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.525+1G>A | NTHL1 | Likely pathogenic | 16 | 2094630 | 2094630 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_002528.7(NTHL1):c.354+2T>C | NTHL1 | Likely pathogenic | 16 | 2096127 | 2096127 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_002528.7(NTHL1):c.116-1G>A | NTHL1 | Likely pathogenic | 16 | 2096368 | 2096368 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.115+1G>A | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2097709 | 2097709 | C | T | criteria provided, multiple submitters, no conflicts | - |