Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HCFC1-AS1, IDH3G
+200 more | Deletion | Ectodermal dysplasia and immunodeficiency 1 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autoinflammatory disease, X-linked +3 more | |
| | | Single nucleotide variant (intron variant) | Ectodermal dysplasia and immunodeficiency 1 +1 more | |
| | | Duplication (frameshift variant +1 more) | Immunodeficiency 33 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Immunodeficiency 33 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 33 | |
| | | Deletion (inframe_deletion +2 more) | Immunodeficiency 33 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 33 +4 more | |
| | | Duplication (frameshift variant +1 more) | Incontinentia pigmenti syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ectodermal dysplasia and immunodeficiency 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 33 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 33 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Immunodeficiency 33 | |
| | | Single nucleotide variant (splice acceptor variant) | Immunodeficiency 33 | |
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