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Items: 1 to 100 of 214

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM33, ADISSP
+348 more
Copy number gain
See cases
GPathogenic
MCM8, MCM8-AS1
+455 more
Copy number gain
See cases
GPathogenic
LOC111365169, LOC111365189
+833 more
Copy number gain
See cases
GPathogenic
LOC130065300, LOC130065301
+306 more
Copy number gain
See cases
GUncertain significance
MIR6869, MIR6870
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+571 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+347 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
LOC130065416, LOC130065417
+579 more
Copy number gain
See cases
GPathogenic
LOC126862999, LOC126863005
+814 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+581 more
Copy number gain
See cases
GPathogenic
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+120 more
Copy number loss
See cases
GPathogenic
LOC130065331, LOC130065332
+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)
Spinocerebellar ataxia type 23
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)
Spinocerebellar ataxia type 23
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)
Spinocerebellar ataxia type 23
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)
Spinocerebellar ataxia type 23
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)
Spinocerebellar ataxia type 23
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN-AS1, PDYN
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)
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
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-AS1, PDYN
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
GBenign
PDYN-AS1, PDYN
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
(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
(D243N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN-AS1, PDYN
(E242K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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 specified
+1 more
GBenign/Likely benign
PDYN, PDYN-AS1
(T238A)
Single nucleotide variant
(missense variant)
not provided
+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
(R231W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 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, PDYN-AS1
(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, PDYN-AS1
(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 provided
GUncertain significance
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
(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)
Spinocerebellar ataxia type 23
+1 more
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 23
+2 more
GBenign
PDYN-AS1, PDYN
(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
(E192V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
+2 more
GBenign/Likely benign
PDYN-AS1, PDYN
(G191W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PDYN, PDYN-AS1
(A190S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(V189M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(R180H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(R180S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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