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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIAA0586
(R22C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
KIAA0586
(H17fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
KIAA0586
(R131fs +3 more)
Deletion
(frameshift variant)
KIAA0586-related condition
+6 more
GPathogenic/Likely pathogenic
KIAA0586
(P163fs +5 more)
Deletion
(frameshift variant)
not provided
GPathogenic
KIAA0586
(H1096L +6 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 14 with polydactyly
+2 more
GUncertain significance
KIAA0586
(T1345A +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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