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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT140
(A1330T)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+3 more
GBenign/Likely benign
IFT140, LOC126862260
(G1027R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GBenign
IFT140
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
IFT140, LOC105371046
(R279P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
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