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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCTN3
(L592V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TCTN3
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TCTN3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Joubert syndrome 18
+2 more
GConflicting classifications of pathogenicity
TCTN3
Single nucleotide variant
(synonymous variant +1 more)
Orofacial-digital syndrome IV
+3 more
GBenign/Likely benign
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