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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIFBP, LOC130003959
(E23G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
KIFBP
(S200*)
Single nucleotide variant
(nonsense)
Goldberg-Shprintzen syndrome
+1 more
GPathogenic
KIFBP
(E301K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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