Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45354323 | 45354323 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA315755913 |
single nucleotide variant | NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) | SLC2A10 | Likely pathogenic | 20 | 45354092 | 45354092 | T | A | criteria provided, single submitter | ClinGen:CA347716 |
single nucleotide variant | NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) | SLC2A10 | Likely pathogenic | 20 | 45354070 | 45354070 | G | T | criteria provided, single submitter | ClinGen:CA409266928 |
single nucleotide variant | NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45353918 | 45353918 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA340266,UniProtKB:O95528#VAR_029535,OMIM:606145.0004 |
Deletion | NC_000020.11:g.(?_46709717)_(46733854_?)del | SLC2A10 | Pathogenic | 20 | 45338356 | 45362493 | na | na | criteria provided, single submitter | - |