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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT56
Single nucleotide variant
(splice donor variant)
Biliary, renal, neurologic, and skeletal syndrome
GLikely pathogenic
IFT56
(S128L +3 more)
Single nucleotide variant
(missense variant +1 more)
Biliary, renal, neurologic, and skeletal syndrome
GUncertain significance
IFT56
(P413L +6 more)
Single nucleotide variant
(missense variant)
Biliary, renal, neurologic, and skeletal syndrome
GPathogenic
IFT56
Single nucleotide variant
(splice acceptor variant)
Biliary, renal, neurologic, and skeletal syndrome
GPathogenic
IFT56
(N123S +4 more)
Single nucleotide variant
(missense variant +1 more)
Biliary, renal, neurologic, and skeletal syndrome
GLikely pathogenic
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