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Links from Gene

Items: 1 to 100 of 171

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NDP, NDP-AS1
(I48T)
Single nucleotide variant
(missense variant)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(G113S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NDP, NDP-AS1
(H94fs)
Deletion
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 2, X-linked
+1 more
GLikely pathogenic
NDP, NDP-AS1
(T117fs)
Duplication
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 2, X-linked
+1 more
GLikely pathogenic
NDP, NDP-AS1
(C128W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
Single nucleotide variant
(splice acceptor variant)
Atrophia bulborum hereditaria
GUncertain significance
NDP, NDP-AS1
(D27Y)
Single nucleotide variant
(missense variant)
NDP-related disorder
GUncertain significance
NDP, NDP-AS1
(H42Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NDP, NDP-AS1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NDP, NDP-AS1
(S9F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(C126*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
(C110*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
(K104Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
(H4fs)
Deletion
(frameshift variant)
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
Deletion
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
(R121Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
(K54N)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GPathogenic
NDP, NDP-AS1
(L61I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(G67W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Exudative vitreoretinopathy 2, X-linked
GPathogenic
NDP, NDP-AS1
Deletion
(nonsense)
not provided
GLikely pathogenic
NDP, NDP-AS1
(T26M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(L116F)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(E130G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(D27G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDP, NDP-AS1
(P88T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(Y53H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
(T22fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NDP, NDP-AS1
(S92P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(Q99*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
(G113fs)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
(R115*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
(I123N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
(K104*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
(C55S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NDP, NDP-AS1
(E130*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
NDP, NDP-AS1
(M40V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(C55Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(K58R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(P98R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(G112E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP-AS1, NDP
(G113D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
NDP, NDP-AS1
(S24R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDP, NDP-AS1
(S92fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NDP, NDP-AS1
(M114fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
(K104E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(R74S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(A8S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(A7S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(L103V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(E76fs)
Duplication
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GPathogenic
NDP, NDP-AS1
(Y44fs)
Deletion
(frameshift variant)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(C93Y)
Indel
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
NDP, NDP-AS1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Atrophia bulborum hereditaria
+1 more
GConflicting classifications of pathogenicity
NDP, NDP-AS1
(C93R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NDP, NDP-AS1
Microsatellite
(intron variant)
not provided
GBenign
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NDP, NDP-AS1
(E66K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(R38H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(S92T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NDP, NDP-AS1
(F81L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(C96*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
NDP, NDP-AS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NDP, NDP-AS1
(D21G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NDP, NDP-AS1
(R109Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
NDP, NDP-AS1
(T22fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NDP, NDP-AS1
(L15P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(G67R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
(G67E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
NDP, NDP-AS1
(L62P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
Gnot provided
NDP, NDP-AS1
(F81S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Atrophia bulborum hereditaria
GLikely pathogenic
NDP, NDP-AS1
(K58N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NDP, NDP-AS1
(S80L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
NDP, NDP-AS1
Duplication
(intron variant)
not provided
GBenign
NDP, NDP-AS1
Deletion
(intron variant)
not provided
GBenign
NDP, NDP-AS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
NDP, NDP-AS1
(C110F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinal dystrophy
+1 more
GLikely pathogenic
NDP, NDP-AS1
(M114fs)
Duplication
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
NDP, NDP-AS1
(G20*)
Single nucleotide variant
(nonsense)
Atrophia bulborum hereditaria
GPathogenic
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