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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT80, TRIM59-IFT80
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT80, TRIM59-IFT80
(Q720K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Asphyxiating thoracic dystrophy 2
+2 more
GConflicting classifications of pathogenicity
IFT80, TRIM59-IFT80
(R628Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Jeune thoracic dystrophy
+2 more
GUncertain significance
IFT80, TRIM59-IFT80
(A622T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Jeune thoracic dystrophy
+2 more
GBenign/Likely benign
IFT80, TRIM59-IFT80
Microsatellite
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT80, TRIM59-IFT80
(R609C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IFT80, TRIM59-IFT80
(A590V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IFT80, TRIM59-IFT80
(I490V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Jeune thoracic dystrophy
+1 more
GUncertain significance
IFT80, TRIM59-IFT80
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IFT80, TRIM59-IFT80
Single nucleotide variant
(intron variant)
Jeune thoracic dystrophy
+2 more
GBenign/Likely benign
IFT80, TRIM59-IFT80
(S359F +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+4 more
GBenign
IFT80, TRIM59-IFT80
(T313A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Jeune thoracic dystrophy
+2 more
GBenign/Likely benign
IFT80, TRIM59-IFT80
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
IFT80, TRIM59-IFT80
Single nucleotide variant
(non-coding transcript variant +1 more)
Asphyxiating thoracic dystrophy 2
+2 more
GConflicting classifications of pathogenicity
IFT80, TRIM59-IFT80
(G241R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
IFT80, TRIM59-IFT80
Single nucleotide variant
(intron variant)
Jeune thoracic dystrophy
+3 more
GBenign/Likely benign
IFT80, TRIM59-IFT80
Single nucleotide variant
(non-coding transcript variant +2 more)
Jeune thoracic dystrophy
+2 more
GConflicting classifications of pathogenicity
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