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.1023-2A>T | SUFU | Likely pathogenic | 10 | 104375023 | 104375023 | A | T | criteria provided, single submitter | ClinGen:CA16612826 |