Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:12938874
- GRCh38:
- ChrX:12920755
| TLR8, TLR8-AS1 | G572V, G590V | Systemic autoinflammation, Autoimmune hemolytic anemia | Pathogenic
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:12938641
- GRCh38:
- ChrX:12920522
| TLR8, TLR8-AS1 | F494L, F512L | Immunodeficiency 98 with autoinflammation, X-linked, INFLTR8 | Pathogenic
(May 4, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:12938874
- GRCh38:
- ChrX:12920755
| TLR8, TLR8-AS1 | G572D, G590D | Immunodeficiency 98 with autoinflammation, X-linked, INFLTR8 | Pathogenic
(May 4, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:12938454
- GRCh38:
- ChrX:12920335
| TLR8, TLR8-AS1 | P432L, P450L | not provided | Uncertain significance
(Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:172628600
- GRCh38:
- Chr1:172659460
| FASLG | F87L | not provided, Autoimmune lymphoproliferative syndrome type 1 | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |