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Links from MedGen

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDYN, PDYN-AS1
(S240T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(F210L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(R212Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(S86L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
+1 more
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
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)
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
(R180C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN-AS1, PDYN
(G191W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PDYN, PDYN-AS1
(R231W)
Single nucleotide variant
(missense 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-AS1, PDYN
(E242K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 23
GLikely benign
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
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
(5 prime UTR variant +1 more)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(C29F)
Single nucleotide variant
(missense 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
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
(R206C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
+1 more
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
Single nucleotide variant
(splice acceptor variant +1 more)
not specified
+1 more
GUncertain significance
PDYN, PDYN-AS1
(E166fs)
Deletion
(frameshift variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
(G36C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PDYN, PDYN-AS1
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 23
+1 more
GLikely benign
PDYN, PDYN-AS1
(M146L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 23
+1 more
GLikely benign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(R174C)
Single nucleotide variant
(missense 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, PDYN-AS1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 23
+2 more
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)
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)
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
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
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
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)
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
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
(W220fs)
Deletion
(frameshift variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
(T73A)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
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
(R215C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GPathogenic
PDYN, PDYN-AS1
(R138S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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