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Items: 1 to 100 of 1606

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH9
Single nucleotide variant
not provided
GBenign
DNAH9
Single nucleotide variant
(5 prime UTR variant)
DNAH9-related disorder
GBenign
DNAH9
(L3fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
DNAH9
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNAH9
Deletion
(inframe_deletion)
not provided
GUncertain significance
DNAH9
(L3V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(L3F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(R7fs)
Indel
(frameshift variant)
not provided
GPathogenic
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
DNAH9-related disorder
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(E13D)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+2 more
GUncertain significance
DNAH9
(R24fs)
Duplication
(frameshift variant)
not provided
GBenign
DNAH9
(N14K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(P19R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(A21S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAH9
(R24*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DNAH9
(R24G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAH9
(R24Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(L25Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(M34V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(S35R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(R37W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(P38L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
(A42S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(E51D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(E53A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(F59L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAH9
(G61R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(D63H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(P68R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
(P70S)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
(P70L)
Single nucleotide variant
(missense variant)
DNAH9-related disorder
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(V74M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
(V74G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(R79G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(G80C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(A82V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
(R84C)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GConflicting classifications of pathogenicity
DNAH9
(P85S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(G86A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DNAH9
(P91S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
(P91R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(L104fs)
Duplication
(frameshift variant)
Ciliary dyskinesia, primary, 40
+1 more
GPathogenic
DNAH9
(F103fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
DNAH9
(F103S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAH9
(F103C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DNAH9
(L104fs)
Duplication
(frameshift variant)
not provided
GPathogenic
DNAH9
(F103L)
Single nucleotide variant
(missense variant)
not provided
GBenign
DNAH9
(R105G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(R105H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(T106I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Deletion
(inframe_deletion)
not provided
GUncertain significance
DNAH9
(P108S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(P113S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(C122G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(P126S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
Deletion
(splice donor variant)
not provided
GLikely pathogenic
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(H132D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DNAH9
(H132R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAH9
(A135T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(L136V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH9
(S138L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNAH9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DNAH9
Single nucleotide variant
(intron variant)
not provided
GLikely 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
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