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Items: 1 to 100 of 231

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065401, LOC130065402
+348 more
Copy number gain
See cases
GPathogenic
LOC130065344, LOC130065345
+455 more
Copy number gain
See cases
GPathogenic
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
LOC112694699, LOC112694712
+306 more
Copy number gain
See cases
GUncertain significance
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+571 more
Copy number gain
See cases
GPathogenic
LOC114004355, LOC116286198
+347 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
ADAM33, ADISSP
+579 more
Copy number gain
See cases
GPathogenic
FASTKD5, FERMT1
+814 more
Copy number gain
See cases
GPathogenic
LOC130065324, LOC130065325
+581 more
Copy number gain
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+120 more
Copy number loss
See cases
GPathogenic
LOC130065322, LOC130065323
+300 more
Copy number gain
See cases
GPathogenic
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant cerebellar ataxia
GLikely benign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Deletion
(3 prime UTR variant)
Autosomal dominant cerebellar ataxia
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Indel
(3 prime UTR variant)
Autosomal dominant cerebellar ataxia
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GLikely benign
PDYN, PDYN-AS1
(L251fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G249E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
PDYN, PDYN-AS1
(P244L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(D243V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDYN, PDYN-AS1
(D243N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(E242K)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
+1 more
GUncertain significance
PDYN, PDYN-AS1
(Q241H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDYN, PDYN-AS1
(S240T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(R239Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PDYN, PDYN-AS1
(T238A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(R232H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(R231Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDYN, PDYN-AS1
(R231W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDYN-AS1, PDYN
(R225H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(W220*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PDYN-AS1, PDYN
(W220fs)
Deletion
(frameshift variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
(L218P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(K217R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(R215H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN-AS1, PDYN
(R215C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GPathogenic
PDYN, PDYN-AS1
(R213C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(R212Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
(R212W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GPathogenic
PDYN-AS1, PDYN
(L211S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(F210L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(G209D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G208E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(R206C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PDYN, PDYN-AS1
(G199A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(M198L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G195E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G195R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
(D194Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDYN, PDYN-AS1
(E192V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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