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Items: 1 to 100 of 195

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060335, LOC130060336
+242 more
Copy number gain
See cases
GPathogenic
DNAH9
Single nucleotide variant
not provided
GBenign
DNAH9
(R24fs)
Duplication
(frameshift variant)
not provided
GBenign
DNAH9
(N14K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAH9
(P70S)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
(V74G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(G77R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(L104fs)
Duplication
(frameshift variant)
Ciliary dyskinesia, primary, 40
+1 more
GPathogenic
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
DNAH9
(R151H)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(Y215S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(L394R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(Q445R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
DNAH9
(T506M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(N677S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(V703M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(R771C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(M818L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(R842W)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(A873V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9, LOC126862505
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 40
+1 more
GBenign
DNAH9, LOC126862505
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9, LOC126862505
(R990H)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9, LOC126862505
(Q1012R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9, LOC126862505
(Y1017C)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(P1195S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
(W1198S)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9
(T1221A)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
Duplication
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(Q1256R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(I1309T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(P1379R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAH9
(E1494K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9, LOC126862506
(S1646C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9, LOC126862506
(G1655S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9, LOC126862506
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9, LOC126862506
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(A1689S)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(I1794F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Duplication
(intron variant)
not provided
GBenign
DNAH9
(V1844M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAH9
(R1885H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(Y1902C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAH9
(K1950R)
Single nucleotide variant
(missense variant)
not provided
GBenign
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