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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCNO
(H239D)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 29
GUncertain significance
CENPF
(K2709fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 29
GLikely pathogenic
CCNO
Indel
(missense variant +1 more)
Primary ciliary dyskinesia 29
GUncertain significance
CCNO
(L183*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 29
GLikely pathogenic
CCNO
Indel
(splice donor variant)
Primary ciliary dyskinesia 29
GLikely pathogenic
CCNO, LOC129993895
(P89A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CCNO
(L303fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 29
GPathogenic
CCNO
(A123V)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 29
GUncertain significance
CCNO
(L322fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 29
GLikely pathogenic
CCNO
(P142fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 29
GPathogenic
CCNO, LOC129993895
(V90fs)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCNO
(S63P)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCNO
(P45H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CCNO
(F164S)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCNO
(L161fs)
Microsatellite
(frameshift variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CCNO, LOC129993895
(V90fs)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCNO
(Q321*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia
GLikely pathogenic
CCNO
(P309fs)
Deletion
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia 29
GPathogenic
LOC129993895, CCNO
(Q88fs)
Microsatellite
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
CCNO, LOC129993895
(G85fs)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic
GCDH
(R402W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
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