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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH6
(G3575R)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 45
GLikely pathogenic
TTC12
(I576V +3 more)
Single nucleotide variant
(missense variant +1 more)
TTC12-related condition
GLikely benign
TTC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TTC12
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TTC12
(M48L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
TTC12
(M567R +3 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
Deletion
(nonsense +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
(R560* +3 more)
Single nucleotide variant
(nonsense +1 more)
Ciliary dyskinesia, primary, 45
GPathogenic
TTC12
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 45
GPathogenic
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