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Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
NEK10
(Y1055* +9 more)
Single nucleotide variant
(nonsense)
not specified
+1 more
GConflicting classifications of pathogenicity
NEK10
Single nucleotide variant
(synonymous variant +1 more)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
(S230R +4 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 44
GUncertain significance
NEK10
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
(R123C +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEK10
(R85C +4 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 44
GPathogenic
NEK10
(A674V +4 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NEK10
Single nucleotide variant
(synonymous variant +1 more)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
(P748L +3 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 44
GPathogenic
NEK10
(P40S +3 more)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 44
GLikely pathogenic
NEK10
(P6L)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
NEK10
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
(N659S +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NEK10
(H624fs +2 more)
Duplication
(frameshift variant)
Ciliary dyskinesia, primary, 44
GPathogenic
NEK10
(M565T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
(V539I +1 more)
Single nucleotide variant
(missense variant +1 more)
NEK10-related disorder
GUncertain significance
NEK10
(D565N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK10
(D563N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK10
(D531G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK10
Single nucleotide variant
(synonymous variant +1 more)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
(H510R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
NEK10
(L484A +2 more)
Indel
(missense variant)
not provided
GUncertain significance
NEK10
(L484S +2 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
NEK10
(L496P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(H444P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(L455V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(C437W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(C408F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(T387I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(R412T)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 44
GLikely pathogenic
NEK10
(H406L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(N401S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NEK10
(S357L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(S357fs +1 more)
Duplication
(frameshift variant)
Ciliary dyskinesia, primary, 44
GPathogenic
NEK10
(R349G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEK10
(R336Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NEK10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NEK10
(R329H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(R329C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(I299T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(E298K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(P293L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(L286P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(I264M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(L277F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(I258V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NEK10
(R221Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEK10
(P128S)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 44
GUncertain significance
NEK10
(N116K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(R103H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NEK10
(R103S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(N93K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(R72Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(R72W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(G67S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NEK10
(R65M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(Q44E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(L35R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
(D25N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NEK10
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 44
+1 more
GBenign
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
GPathogenic
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
NEK10, SLC4A7
Copy number gain
not provided
GUncertain significance
AZI2, CMC1
+20 more
Copy number loss
not specified
GLikely pathogenic
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
ACAA1, ACVR2B
+93 more
Deletion
not provided
GPathogenic
NEK10, LRRC3B
+1 more
Copy number gain
not provided
GUncertain significance
AZI2, EOMES
+6 more
Copy number loss
not provided
GUncertain significance
SLC4A7, NEK10
Copy number gain
not provided
GLikely benign
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
ANKRD28, APRG1
+155 more
Copy number gain
See cases
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
TRIM71, TRNT1
+145 more
Copy number gain
See cases
GPathogenic
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