Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CCNH, RASA1 (Y256* +1 more) | Single nucleotide variant (nonsense +1 more) | Angioosteohypertrophic syndrome | |
| | CCNH, RASA1 (W181* +1 more) | Single nucleotide variant (nonsense +1 more) | Angioosteohypertrophic syndrome | |
| | CCNH, RASA1 (K484fs +1 more) | Duplication (frameshift variant +1 more) | Angioosteohypertrophic syndrome | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Capillary malformation +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
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