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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDC1
(C369Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Cleft palate
+2 more
GUncertain significance
INPP1, LOC129935252
(Q24fs)
Deletion
(frameshift variant)
Retinal disorder
+1 more
GUncertain significance
TENM4
(G519E)
Single nucleotide variant
(missense variant)
Retinal disorder
+1 more
GLikely benign
NEK9
(Y502C +1 more)
Single nucleotide variant
(missense variant)
Retinal disorder
+1 more
GLikely benign
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