FAM149B1 Chromosome 10
Family with sequence similarity 149 member B1
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What This Gene Does
Involved in cilium assembly and protein localization to cilium. Predicted to be located in cilium. Implicated in Joubert syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (3)
Joubert syndrome 36
Joubert syndrome
Clear cell carcinoma of kidney
Key Variants
RS770670664
Conflicting classifications of pathogenicity
Health Risk
RS144804269
Likely pathogenic
Joubert syndrome 36, Joubert syndrome 36
Health Risk
RS1589150410
Likely pathogenic
Joubert syndrome 36, Joubert syndrome, Joubert syndrome 36
Health Risk
RS941024653
Likely pathogenic
Joubert syndrome 36, Joubert syndrome 36
Health Risk
RS1233151424
Pathogenic
Joubert syndrome 36, Joubert syndrome 36
Health Risk
RS1259897171
Pathogenic
Joubert syndrome 36, Joubert syndrome 36
Health Risk
RS750681131
Pathogenic
Joubert syndrome 36, Clear cell carcinoma of kidney, Joubert syndrome 36
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS770670664 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144804269 | Health Risk | Likely pathogenic | Joubert syndrome 36, Joubert syndrome 36 |
| RS1589150410 | Health Risk | Likely pathogenic | Joubert syndrome 36, Joubert syndrome, Joubert syndrome 36 |
| RS941024653 | Health Risk | Likely pathogenic | Joubert syndrome 36, Joubert syndrome 36 |
| RS1233151424 | Health Risk | Pathogenic | Joubert syndrome 36, Joubert syndrome 36 |
| RS1259897171 | Health Risk | Pathogenic | Joubert syndrome 36, Joubert syndrome 36 |
| RS750681131 | Health Risk | Pathogenic | Joubert syndrome 36, Clear cell carcinoma of kidney, Joubert syndrome 36 |