TMEM216 Chromosome 11
Transmembrane protein 216
Upload your DNA to see your personal genotypes for variants in TMEM216.
What This Gene Does
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
Associated Conditions (9)
Joubert syndrome 2
Meckel syndrome
type 2
Joubert syndrome
Inborn genetic diseases
TMEM216-related disorder
Retinal dystrophy
Abnormality of the nervous system
Retinitis pigmentosa 98
Key Variants
RS111371929
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS1336106190
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 2, Meckel syndrome
Health Risk
RS144613667
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS1554972407
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome
Health Risk
RS183785901
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS188478638
Conflicting classifications of pathogenicity
Meckel syndrome, type 2, Joubert syndrome 2
Health Risk
RS200289511
Conflicting classifications of pathogenicity
Meckel syndrome, type 2, Joubert syndrome
Health Risk
RS557559653
Conflicting classifications of pathogenicity
Joubert syndrome 2, Meckel syndrome, type 2
Health Risk
RS569734777
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel syndrome, type 2
Health Risk
RS57932685
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 2, Joubert syndrome
Health Risk
RS59493015
Conflicting classifications of pathogenicity
Joubert syndrome 2, TMEM216-related disorder, Meckel syndrome
Health Risk
RS747600105
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel syndrome, type 2
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111371929 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS1336106190 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 2, Meckel syndrome |
| RS144613667 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS1554972407 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome |
| RS183785901 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS188478638 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS200289511 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 2, Joubert syndrome |
| RS557559653 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS569734777 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel syndrome, type 2 |
| RS57932685 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 2, Joubert syndrome |
| RS59493015 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 2, TMEM216-related disorder, Meckel syndrome |
| RS747600105 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel syndrome, type 2 |
| RS749351351 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel syndrome, type 2 |
| RS762030694 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel syndrome, type 2 |
| RS762918371 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS769285695 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS779526456 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 2, Joubert syndrome, Abnormality of the nervous system |
| RS900061092 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 2, TMEM216-related disorder |
| RS940443692 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 2, Meckel syndrome |
| RS1057517498 | Health Risk | Likely pathogenic | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS1057517512 | Health Risk | Likely pathogenic | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS1057517528 | Health Risk | Likely pathogenic | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS1057520085 | Health Risk | Likely pathogenic | Joubert syndrome 2, Joubert syndrome, Meckel syndrome |
| RS1211592806 | Health Risk | Likely pathogenic | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS1413884641 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS147267631 | Health Risk | Likely pathogenic | Joubert syndrome 2, Meckel syndrome, type 2 |
| RS1554972547 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel syndrome, type 2 |
| RS1554972556 | Health Risk | Likely pathogenic | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS1554972958 | Health Risk | Likely pathogenic | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS1858720964 | Health Risk | Likely pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS1858735439 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome 2, Joubert syndrome |
| RS2135189980 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2135191306 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome 2, Meckel syndrome |
| RS2539890521 | Health Risk | Likely pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS2539891669 | Health Risk | Likely pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS2539891739 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS2539892764 | Health Risk | Likely pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS2539892830 | Health Risk | Likely pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS2539896547 | Health Risk | Likely pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS2539896601 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS11230683 | Health Risk | Pathogenic | Meckel syndrome, type 2, Joubert syndrome 2 |
| RS1362597973 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2135190077 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2135190154 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2135195989 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2135196385 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2539891609 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2539892774 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |
| RS2539892835 | Health Risk | Pathogenic | Joubert syndrome 2, Joubert syndrome 2 |
| RS2539896387 | Health Risk | Pathogenic | Joubert syndrome, Joubert syndrome |