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Links from Gene

Items: 1 to 100 of 195

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(P183T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(V189G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G199A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(W220*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PDYN, PDYN-AS1
(K217R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(R180S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(G159D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(V189M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(Y92C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(Q50R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(L218P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
Duplication
(inframe_insertion)
not provided
GUncertain significance
PDYN-AS1, PDYN
(R215H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(L98P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
PDYN, PDYN-AS1
(E144Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(S240T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(P91S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(R25W)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
(L122P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(Q241H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDYN-AS1, PDYN
(E170V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(A20V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(A164T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PDYN, PDYN-AS1
(R180H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(C22Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(M14K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(P113R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(S46F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(A30T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(A141V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(R213C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(D35G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(A52T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(D153N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(L23R)
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
(K129Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(C45W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN-AS1, PDYN
(S27F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PDYN, PDYN-AS1
(T70I)
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
(S24L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G249E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(R232H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(D243N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(S116*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G177D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(P244L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(A190S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(M146K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(G132C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDYN, PDYN-AS1
(S27C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDYN, PDYN-AS1
(C49Y)
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
Single nucleotide variant
(intron variant)
not provided
GBenign
PDYN, PDYN-AS1
(R25Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PDYN, PDYN-AS1
(E107D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
PDYN-related condition
+2 more
GBenign/Likely benign
PDYN-AS1, PDYN
(M198L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDYN, PDYN-AS1
(M14V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PDYN, PDYN-AS1
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 23
GUncertain significance
PDYN, PDYN-AS1
(S86L)
Single nucleotide variant
(missense variant)
not provided
+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-AS1, PDYN
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
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