U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GConflicting classifications of pathogenicity
SETX
(S2612G +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
SETX
(I2587V +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
(P2575L +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+5 more
GConflicting classifications of pathogenicity
SETX
(I2547T +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+5 more
GConflicting classifications of pathogenicity
SETX
(T2478A +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+5 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
Duplication
(intron variant)
Amyotrophic lateral sclerosis type 4
+2 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+4 more
GBenign/Likely benign
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
(T1855A)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
(P1661R)
Single nucleotide variant
(missense variant)
SETX-related disorder
+6 more
GConflicting classifications of pathogenicity
SETX
(P1622L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SETX
(C1554G)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
SETX
(I1386V)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
(P1270L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+4 more
GConflicting classifications of pathogenicity
SETX
(G1252R)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
(K1221N)
Single nucleotide variant
(missense variant)
SETX-related disorder
+3 more
GBenign/Likely benign
SETX
(D1192E)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
(F1152C)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia
+5 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+6 more
GBenign/Likely benign
SETX
(K992R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+5 more
GConflicting classifications of pathogenicity
SETX
(G739E)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
SETX
(A660G)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign
SETX
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
SETX
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign/Likely benign
SETX
(R20H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+5 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination