Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ARMCX5-GPRASP2, GPRASP2 (S788I) | Single nucleotide variant (missense variant +1 more) | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | |
| | ARMCX5-GPRASP2, GPRASP2 (G432E) | Single nucleotide variant (missense variant +1 more) | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | |
| | ARMCX5-GPRASP2, GPRASP2 (A573N) | Indel (missense variant +1 more) | X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome | |
Click to view in NCBI Gene