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Items: 1 to 100 of 1779

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002527, LOC130002528
+1272 more
Copy number gain
See cases
GPathogenic
ABCA2, ABL1
+1268 more
Copy number gain
See cases
GPathogenic
LOC130003109, LOC130003110
+1210 more
Copy number gain
See cases
GPathogenic
LOC130002885, LOC130002886
+789 more
Copy number gain
See cases
GPathogenic
PAEP, PIERCE1
+536 more
Copy number gain
See cases
GPathogenic
LOC130002822, LOC130002823
+160 more
Copy number loss
See cases
GPathogenic
ABCA2, ABL1
+656 more
Copy number gain
See cases
GPathogenic
LOC113839534, LOC121366032
+25 more
Copy number gain
See cases
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Deletion
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign/Likely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign/Likely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Duplication
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign/Likely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SETX
Deletion
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign/Likely benign
SETX
Duplication
(3 prime UTR variant)
not provided
GBenign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+2 more
GBenign/Likely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+2 more
GBenign/Likely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia
+2 more
GConflicting classifications of pathogenicity
SETX
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GBenign/Likely benign
SETX
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
SETX
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
SETX
(L2706fs +1 more)
Duplication
(frameshift variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(L2677F +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(R2674fs +1 more)
Microsatellite
(frameshift variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(K2702E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETX
(E2665D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETX
(L2693P +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 4
+3 more
GBenign/Likely benign
SETX
Single nucleotide variant
(synonymous variant)
Amyotrophic lateral sclerosis type 4
+1 more
GLikely benign
SETX
(R2662K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SETX
(R2691fs +1 more)
Deletion
(frameshift variant)
Amyotrophic lateral sclerosis type 4
+1 more
GUncertain significance
SETX
(K2661R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SETX
(K2661E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETX
(D2660G +1 more)
Single nucleotide variant
(missense variant)
SETX-related disorder
+4 more
GConflicting classifications of pathogenicity
SETX
(R2687G +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
+2 more
GConflicting classifications of pathogenicity
SETX
(N2656S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SETX
(T2679fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GUncertain significance
SETX
(T2653I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SETX
(E2649K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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