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Links from MedGen

Items: 1 to 100 of 266

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NME8
(Y365*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(V500A)
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
Insertion
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(A419T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(M45T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(M519V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(M512I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(I111M)
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
(P147fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(G381D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(I160T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(M217T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
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
(P517A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(D306N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(N295S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Deletion
(intron variant)
Primary ciliary dyskinesia 6
GBenign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(L389F)
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
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
NME8
(D137V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(D33Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Deletion
(inframe_deletion)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(Q451P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(P77T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(E443Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(L546V)
Single nucleotide variant
(missense variant)
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
(intron variant)
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
(E576A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(C208H)
Inversion
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(S380I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Deletion
(intron variant)
Primary ciliary dyskinesia 6
GBenign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(W20C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(G28D)
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
(P305S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Duplication
(intron variant)
Primary ciliary dyskinesia 6
GBenign
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(D340fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(K189E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(A440D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
NME8
(E467Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(A422V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(S231N)
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
(D435N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Insertion
(nonsense +1 more)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(P242L)
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
(T218S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Duplication
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(G28S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(M313K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(E250K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(E211K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
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
(R251*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(E96K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(A530V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
NME8
(D245H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
NME8-related disorder
+1 more
GLikely benign
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(Y432H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(A101T)
Single nucleotide variant
(missense 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
(I375T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(A574T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
NME8
(N199S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
+1 more
GUncertain significance
NME8
(P541T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 6
GUncertain significance
NME8
(L29I)
Single nucleotide variant
(missense variant)
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
(synonymous variant)
Primary ciliary dyskinesia 6
GLikely benign
Display optionsSort by RelevanceDownload
Format
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