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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETX
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
SETX
(P2575L +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+5 more
GConflicting classifications of pathogenicity
SETX
(I2547T +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SETX
(I2518M +1 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+4 more
GBenign/Likely benign
LOC126860782, SETX
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign/Likely benign
SETX
(K2382fs)
Insertion
(frameshift variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
(D2372N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+4 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+4 more
GBenign/Likely benign
SETX
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+4 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SETX
(V2119L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
(S2063G)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+2 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+5 more
GConflicting classifications of pathogenicity
SETX
(E1873K)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
Microsatellite
(intron variant)
Hereditary spastic paraplegia
+3 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+2 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+4 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SETX
(S1684C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+4 more
GConflicting classifications of pathogenicity
SETX
(P1661R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
SETX
(H1660R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+4 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+5 more
GBenign/Likely benign
SETX
(C1554G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
SETX
(A1478E)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SETX
(I1475V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
(T1322N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GConflicting classifications of pathogenicity
SETX
(G1137D)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
SETX
(P1061L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
SETX
Microsatellite
(inframe_insertion)
not provided
+5 more
GBenign/Likely benign
SETX
(G1011R)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
(K992R)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SETX
(N904S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SETX
(V891A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GConflicting classifications of pathogenicity
SETX
(V848G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+4 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GLikely benign
SETX
(K827E)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
SETX
(I809M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GConflicting classifications of pathogenicity
SETX
(G739E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+5 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+4 more
GConflicting classifications of pathogenicity
SETX
(I705L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+4 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SETX
(Q653K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SETX
(I614V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
(T604S)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
(N603D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SETX
(L223I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+3 more
GUncertain significance
SETX
(K218N)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+5 more
GConflicting classifications of pathogenicity
SETX
(L158V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GBenign/Likely benign
SETX
(T102A)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+3 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia
GUncertain significance
SETX
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SETX
(P26L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
SETX
(R20H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+4 more
GBenign/Likely benign
SETX
(I15V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GConflicting classifications of pathogenicity
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