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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT140, LOC105371046
(I446V)
Single nucleotide variant
(missense variant)
IFT140-related condition
+3 more
GBenign/Likely benign
IFT140, LOC105371046
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC105371046, IFT140
(R253Q)
Single nucleotide variant
(missense variant)
IFT140-related condition
+3 more
GConflicting classifications of pathogenicity
IFT140, LOC105371046
(L166P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC105371046, IFT140
(V108M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
IFT140, LOC105371046
(V53M)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+1 more
GUncertain significance
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