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Links from Gene

Items: 1 to 100 of 144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATXN2
(K536R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(S157L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(W28L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
(G59C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(A914P +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P5S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(L1121I +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
(S55F)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
(P39R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(T96M)
Single nucleotide variant
(5 prime UTR variant +3 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
Microsatellite
(inframe_insertion +2 more)
Spinocerebellar ataxia type 2
GPathogenic
ATXN2
(E34Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(S13C +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(R24S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
(S56W)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
(P31R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(E16Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P953S +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(N888H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(A616T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P570L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(I556T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ATXN2
(A551T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(D565N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P396S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(V256I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(R262G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(I205V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P49Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ATXN2
(G48A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(Q186R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(D237N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(Q14fs)
Deletion
(frameshift variant +2 more)
ATXN2-related disorder
GLikely benign
ATXN2
Single nucleotide variant
(intron variant)
ATXN2-related disorder
GLikely benign
ATXN2
Single nucleotide variant
(synonymous variant +1 more)
ATXN2-related disorder
GLikely benign
ATXN2, LOC130008791
(Q20fs)
Deletion
(frameshift variant +2 more)
ATXN2-related disorder
GLikely benign
ATXN2
Deletion
(intron variant)
ATXN2-related disorder
GBenign
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
ATXN2-related disorder
GBenign
ATXN2, LOC130008791
(Q15fs)
Deletion
(frameshift variant +2 more)
ATXN2-related disorder
GLikely benign
ATXN2
Single nucleotide variant
(synonymous variant +1 more)
ATXN2-related disorder
GLikely benign
ATXN2
(Q13fs)
Deletion
(frameshift variant +2 more)
ATXN2-related disorder
GLikely benign
ATXN2, LOC130008792
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATXN2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ATXN2, LOC130008791
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ATXN2, LOC130008791
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ATXN2, LOC130008791
Deletion
(inframe_deletion +2 more)
not provided
GLikely benign
ATXN2, LOC130008791
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ATXN2, LOC130008791
Deletion
(inframe_deletion +2 more)
not provided
GLikely benign
ATXN2, LOC130008791
Microsatellite
(inframe_insertion +2 more)
not provided
GBenign
ATXN2, LOC130008791
Deletion
(inframe_deletion +2 more)
not provided
GLikely benign
ATXN2, LOC130008791
Microsatellite
(inframe_insertion +2 more)
not provided
GBenign
ATXN2
(V214L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ATXN2
(P843S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
ATXN2
(P843L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ATXN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ATXN2
(E548G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(Y25H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(K586R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(N974S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(R86Q)
Single nucleotide variant
(5 prime UTR variant +3 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P715S +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(R255K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(E89A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P1075L +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P477L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
(P57T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(H266L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(A1063P +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P421A +2 more)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 2
GUncertain significance
ATXN2
(A46P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(A831T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P51L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(S487L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
(Q26P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P413H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P47T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
(Q18H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008791
(S60F)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P453A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ATXN2, LOC130008792
(P63T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(M898I +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(I564V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ATXN2
(S667P +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(A148T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(I575T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(R37Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
(P62R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2, LOC130008792
(P62S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(H828Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(P464L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(A35G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN2
(Q179H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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