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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIAA0753
(P923L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KIAA0753
(R780C +1 more)
Single nucleotide variant
(missense variant +1 more)
Orofaciodigital syndrome XV
+3 more
GBenign/Likely benign
KIAA0753
(K586E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
KIAA0753
(R252C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GBenign/Likely benign
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