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.685C>T (p.Arg229Ter) | SLC2A10 | Pathogenic | 20 | 45354360 | 45354360 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA347762 |
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.1276G>T (p.Gly426Trp) | SLC2A10 | Pathogenic/Likely pathogenic | 20 | 45354951 | 45354951 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA324232,UniProtKB:O95528#VAR_042422,OMIM:606145.0005 |
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 | NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) | SLC2A10 | Pathogenic | 20 | 45355547 | 45355547 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA321816,OMIM:606145.0003 |