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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNH, RASA1
(W181* +1 more)
Single nucleotide variant
(nonsense +1 more)
Angioosteohypertrophic syndrome
GPathogenic
CCNH, RASA1
(Y256* +1 more)
Single nucleotide variant
(nonsense +1 more)
Angioosteohypertrophic syndrome
GPathogenic
CCNH, RASA1
(K484fs +1 more)
Duplication
(frameshift variant +1 more)
Angioosteohypertrophic syndrome
GPathogenic
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