Links from MedGen
Items: 18
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux +4 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux | |
| | | Deletion (frameshift variant) | Motor delay +3 more | |
| | | Deletion (frameshift variant) | Blepharophimosis +9 more | |
| | | Single nucleotide variant (missense variant) | Vesicoureteral reflux | |
| | | Deletion (frameshift variant) | Generalized hypotonia +7 more | |
| | | Single nucleotide variant | Vesicoureteral reflux +1 more | |
| | | Duplication (3 prime UTR variant) | Vesicoureteral reflux | |
| | | Deletion (3 prime UTR variant) | Vesicoureteral reflux | |
| | | Single nucleotide variant (3 prime UTR variant) | Vesicoureteral reflux | |
| | | Single nucleotide variant (3 prime UTR variant) | Vesicoureteral reflux | |
| | | Duplication (3 prime UTR variant) | Vesicoureteral reflux | |
| | | Deletion (intron variant) | not provided +1 more | |
| | LOC126806727, ROBO2 (V658I +6 more) | Single nucleotide variant (missense variant) | Vesicoureteral reflux | |
| | | Inversion | Microcephaly +9 more | |
| | | Translocation | Penile hypospadias +6 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Temtamy syndrome | |
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