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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USP7
(Y232C +3 more)
Single nucleotide variant
(missense variant +1 more)
Hao-Fountain syndrome
GLikely pathogenic
USP7
(L180V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hao-Fountain syndrome
GLikely pathogenic
USP7
(E83fs +2 more)
Microsatellite
(frameshift variant +2 more)
Hao-Fountain syndrome
GPathogenic
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