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Items: 1 to 100 of 270

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NME8
(V8D)
Single nucleotide variant
(missense variant)
NME8-related disorder
+1 more
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
+1 more
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(S18N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
+1 more
GLikely benign
NME8
(W20C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(N26S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(G28S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(G28C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+1 more
GUncertain significance
NME8
(G28D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
+1 more
GLikely benign
NME8
(L29I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(T30A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Deletion
(intron variant)
Primary ciliary dyskinesia 6
GBenign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(D33Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(C39R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(C42F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
NME8
(R43K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+3 more
GBenign
NME8
(M45V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(M45T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(K51*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NME8
Insertion
(nonsense +1 more)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(E55D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(N57K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(E58K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+1 more
GUncertain significance
NME8
(E60K)
Indel
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
+3 more
GBenign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
+3 more
GBenign
NME8
(L75S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(Q76K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(P77T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(C82S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(P84A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Deletion
(inframe_deletion)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
+1 more
GConflicting classifications of pathogenicity
NME8
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(E96K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
NME8
(A101T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(P104L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+1 more
GConflicting classifications of pathogenicity
NME8
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(N107D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(K109N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(I111M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(D115N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(A122G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+1 more
GUncertain significance
NME8
(G123C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(P128S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
+2 more
GLikely benign
NME8
(P134L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
NME8
(D137V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(P147fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(P147L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(Q152*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 6
+1 more
GUncertain significance
NME8
Insertion
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Duplication
(intron variant)
Primary ciliary dyskinesia 6
GBenign
NME8
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(E153*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(L154*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(S156R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(I157V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(I160T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+1 more
GUncertain significance
NME8
(P162L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+1 more
GUncertain significance
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