Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_016169.4(SUFU):c.597+1G>C | SUFU | Likely pathogenic | 10 | 104352482 | 104352482 | G | C | criteria provided, single submitter | - |