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Links from Gene

Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDCA7L, DNAH11
(R4486fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
CDCA7L, DNAH11
(K4473fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
CDCA7L, DNAH11
(P4458R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(V4480A)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GBenign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(A4462fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Microsatellite
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(R4486K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(K4497fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(W4438*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(V4446fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(K4473fs)
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
(K4473fs)
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(Y4476fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(E4471fs)
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
(T4493fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(K4484fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(Q4470fs)
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(Q4474*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(D4439G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(R4469fs)
Microsatellite
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(Q4441E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CDCA7L, DNAH11
(E4500G)
Single nucleotide variant
(3 prime UTR variant +1 more)
DNAH11-related disorder
GUncertain significance
CDCA7L, DNAH11
Insertion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 7
GLikely pathogenic
CDCA7L, DNAH11
(L4513I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(T4440I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
DNAH11, CDCA7L
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(A4442G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(Q4474E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
(K4497fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 7
GLikely pathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(A4448T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(T4444S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(R4449fs)
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GLikely pathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GLikely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+2 more
GLikely benign
CDCA7L, DNAH11
(P4466S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(S4498fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
(K4473fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
DNAH11, CDCA7L
(L4485fs)
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
CDCA7L, DNAH11
(Q4474K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
Microsatellite
(3 prime UTR variant +1 more)
not provided
GBenign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GBenign/Likely benign
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely benign
CDCA7L, DNAH11
(E4500fs)
Microsatellite
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CDCA7L, DNAH11
(W4505fs)
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely pathogenic
CDCA7L, DNAH11
(G4443E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
DNAH11, CDCA7L
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(Y4476fs)
Duplication
(3 prime UTR variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CDCA7L, DNAH11
(F4494L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(R4482T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(R4437H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CDCA7L, DNAH11
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(R4482G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
(I4491M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
CDCA7L, DNAH11
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GLikely pathogenic
CDCA7L, DNAH11
Duplication
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
DNAH11, CDCA7L
(P4458L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 7
GUncertain significance
CDCA7L, DNAH11
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 7
GUncertain significance
CDCA7L, DNAH11
(A4436T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
GPathogenic
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