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Items: 1 to 100 of 250

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH17, PGS1
Single nucleotide variant
(synonymous variant +1 more)
DNAH17-related condition
+1 more
GLikely benign
DNAH17, PGS1
(I4431V)
Single nucleotide variant
(missense variant +1 more)
DNAH17-related condition
+1 more
GBenign
DNAH17, PGS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
DNAH17, PGS1
(R4395W)
Single nucleotide variant
(missense variant +2 more)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
(W4345R)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
(R4285Q)
Single nucleotide variant
(missense variant)
DNAH17-related condition
+1 more
GBenign/Likely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
(M4218T)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
(N4131fs)
Duplication
(frameshift variant)
DNAH17-related condition
GLikely pathogenic
DNAH17
(P4130R)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+1 more
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17
(H3953R)
Single nucleotide variant
(missense variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
(H3953Y)
Single nucleotide variant
(missense variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
(R3942Q)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
(A3918fs)
Deletion
(frameshift variant)
DNAH17-related condition
GLikely pathogenic
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Microsatellite
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
(D3667N)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
(K3524fs)
Deletion
(frameshift variant)
DNAH17-related condition
GLikely pathogenic
DNAH17
Microsatellite
(intron variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
(D3482N)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
+1 more
GBenign
DNAH17
(V3356I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
(V3320L)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNAH17
(V3249I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
(D3227N)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GLikely benign
DNAH17
(V3168L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
(V3108I)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNAH17
(V2934A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DNAH17
(R2910W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DNAH17
(S2854L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DNAH17
Single nucleotide variant
(intron variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+1 more
GLikely benign
DNAH17
(M2710V)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
(E2699K)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
(V2697I)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
DNAH17
(A2634V)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17, LOC130061846
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
DNAH17, LOC130061846
(M2545V)
Single nucleotide variant
(missense variant)
DNAH17-related condition
GBenign
DNAH17, DNAH17-AS1
(F2520V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DNAH17, DNAH17-AS1
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GLikely benign
DNAH17, DNAH17-AS1
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
+2 more
GBenign
DNAH17, DNAH17-AS1
(T2432M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DNAH17, DNAH17-AS1
Microsatellite
(intron variant)
not provided
+1 more
GBenign
DNAH17, DNAH17-AS1
Single nucleotide variant
(synonymous variant)
DNAH17-related condition
GBenign
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