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Items: 1 to 100 of 144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+823 more
Copy number gain
See cases
GPathogenic
LOC129995829, LOC129995830
+777 more
Copy number gain
See cases
GPathogenic
LOC110121220, LOC110121246
+2579 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995876, LOC129995877
+135 more
Copy number loss
See cases
GLikely pathogenic
ATXN1, ATXN1-AS1
+162 more
Copy number gain
See cases
GUncertain significance
ATXN1
(V813I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ATXN1
(I807T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(C806F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(R780H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(F757L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ATXN1
(P753S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATXN1
(A724T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(A717V)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
+1 more
GLikely benign
ATXN1
(G715S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ATXN1
(N692fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
ATXN1-related disorder
GBenign
ATXN1
(V642I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
Single nucleotide variant
(intron variant)
not provided
GBenign
ATXN1
(P624L)
Single nucleotide variant
(missense variant +1 more)
ATXN1-related disorder
GLikely benign
ATXN1
(V615I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(A602S)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ATXN1
(A565V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(V560M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATXN1
(V557A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(Q551*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
ATXN1-related disorder
GLikely benign
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
Tip-toe gait
GUncertain significance
ATXN1
(S502L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
ATXN1-related disorder
GLikely benign
ATXN1
(A501V)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
GUncertain significance
ATXN1
(L490V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(Q469K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATXN1
(P459T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ATXN1
(A400T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(A392T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
ATXN1-related disorder
GBenign
ATXN1
(V382M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATXN1
(S376L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(S371N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(S358C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(Y356*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ATXN1
(G345R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
ATXN1-related disorder
GLikely benign
ATXN1
(P337S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(G335E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(R332Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ATXN1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ATXN1
(P285A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(A261T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(G258S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(G258C)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
+1 more
GBenign
ATXN1
(P240Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(P239T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(S238T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(P231L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1, LOC108663993
Microsatellite
(inframe_insertion +1 more)
not provided
+1 more
GBenign/Likely benign
ATXN1, LOC108663993
Microsatellite
(inframe_insertion +1 more)
Spinocerebellar ataxia type 1
+1 more
GBenign
ATXN1, LOC108663993
Microsatellite
(inframe_deletion +1 more)
ATXN1-related disorder
GBenign
ATXN1, LOC108663993
(Q225H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ATXN1, LOC108663993
Insertion
(inframe insertion +2 more)
ATXN1-related disorder
GBenign
ATXN1, LOC108663993
Insertion
(inframe insertion +2 more)
ATXN1-related disorder
GBenign
ATXN1, LOC108663993
(Q215H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC108663993, ATXN1
Deletion
(inframe_deletion +1 more)
not provided
GBenign
ATXN1, LOC108663993
Insertion
(inframe_insertion +1 more)
Spinocerebellar ataxia type 1
GUncertain significance
ATXN1, LOC108663993
Microsatellite
(inframe_indel +2 more)
ATXN1-related disorder
GLikely benign
ATXN1, LOC108663993
Insertion
(inframe_insertion +1 more)
ATXN1-related disorder
GBenign
LOC108663993, ATXN1
Microsatellite
(inframe_insertion +1 more)
not provided
GLikely benign
ATXN1, LOC108663993
(Q213H)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ATXN1, LOC108663993
Microsatellite
(inframe_indel +2 more)
ATXN1-related disorder
GBenign
ATXN1, LOC108663993
(Q212H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC108663993, ATXN1
(Q212P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1, LOC108663993
(H211del)
Deletion
(inframe_deletion +1 more)
not specified
GUncertain significance
ATXN1, LOC108663993
Duplication
(inframe insertion +2 more)
ATXN1-related disorder
GBenign
ATXN1, LOC108663993
(H211Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ATXN1, LOC108663993
(Q210H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN1, LOC108663993
Microsatellite
(inframe_indel +2 more)
ATXN1-related disorder
GLikely benign
ATXN1, LOC108663993
Microsatellite
(inframe_indel +2 more)
ATXN1-related disorder
GLikely benign
ATXN1, LOC108663993
Microsatellite
(inframe_indel +2 more)
ATXN1-related disorder
GLikely benign
ATXN1, LOC108663993
(H209Q)
Single nucleotide variant
(missense variant +1 more)
ATXN1-related disorder
GLikely benign
ATXN1, LOC108663993
Microsatellite
(inframe_insertion +1 more)
not specified
+2 more
GBenign/Likely benign
ATXN1, LOC108663993
(Q208del)
Microsatellite
(inframe_deletion +1 more)
ATXN1-related disorder
+1 more
GConflicting classifications of pathogenicity
ATXN1, LOC108663993
Insertion
(inframe_insertion +1 more)
not provided
GBenign
LOC108663993, ATXN1
(Q208H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATXN1, LOC108663993
Microsatellite
Spinocerebellar ataxia type 1
GPathogenic
LOC108663993, ATXN1
(Q207H)
Single nucleotide variant
(missense variant +1 more)
Spinocerebellar ataxia type 1
+1 more
GConflicting classifications of pathogenicity
ATXN1, LOC108663993
(Q206H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1, LOC108663993
(Q204H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC108663993, ATXN1
(Q203H)
Single nucleotide variant
(missense variant +1 more)
ATXN1-related disorder
+2 more
GConflicting classifications of pathogenicity
ATXN1, LOC108663993
(Q202H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1, LOC108663993
(Q201H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(P191L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATXN1
(A181T)
Single nucleotide variant
(synonymous variant +1 more)
ATXN1-related disorder
GLikely benign
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