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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP63
(E499Q +4 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Split hand-foot malformation 4
GLikely pathogenic
SASH1
(T365K +5 more)
Single nucleotide variant
(missense variant)
Dyschromatosis universalis hereditaria 1
GLikely pathogenic
SASH1
(S277R +5 more)
Single nucleotide variant
(missense variant)
Dyschromatosis universalis hereditaria 1
GLikely pathogenic
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