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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC29
(G314R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TTC29
(H284R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
TTC29
(K265R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TTC29
(Q252* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
LOC105377473, TTC29
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
SEC24D, CLDN22
+537 more
Copy number gain
not provided
GPathogenic
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