Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Hypogonadotropic hypogonadism 7 with or without anosmia +9 more | |
| | | Copy number loss | Autism +7 more | |
| | CSGALNACT1, SFTPC
+77 more | Copy number gain | Autism +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +25 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene