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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC8
Single nucleotide variant
(synonymous variant +2 more)
TTC8-related condition
+5 more
GConflicting classifications of pathogenicity
TTC8
(K95R +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
TTC8
(N100S +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+2 more
GBenign/Likely benign
TTC8
(I400T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TTC8
(G411R +5 more)
Single nucleotide variant
(missense variant +1 more)
TTC8-related condition
+2 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
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