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Links from Gene

Items: 1 to 100 of 550

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA5
(A50P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNA5
(R201P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA5
(P582A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA5
(P285R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA5
(M478V)
Single nucleotide variant
(missense variant)
KCNA5-related disorder
GUncertain significance
KCNA5
(A451V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA5
(P188A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(L427F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(G174S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
Deletion
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(D606A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA5
(T311P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(P306L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(V255I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(E217K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(L193P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(N168S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(A111V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KCNA5
(R65P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(G551R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(G53V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(L436R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(R250W)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
AKAP3, CACNA1C
+23 more
Copy number loss
not specified
GLikely pathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
KCNA1, KCNA5
Copy number gain
not specified
GUncertain significance
KCNA5
(P294S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(A60S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(V476I)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(M1T)
Single nucleotide variant
(missense variant +1 more)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(V259I)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(E208K)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(G385E)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(R403L)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(T607S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(I489M)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(G567E)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(V556F)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(G19D)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(T15I)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(A209V)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(V64M)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(E211K)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(A298fs)
Deletion
(frameshift variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(S395F)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(P77A)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(L315P)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(T39K)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(P82S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(T271N)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GLikely benign
KCNA5
(G53E)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(M357T)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(E48K)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
Single nucleotide variant
(synonymous variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(T15A)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(K585N)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(A397T)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
ADIPOR2, AKAP3
+40 more
Copy number loss
not provided
GPathogenic
KCNA5
(A56V)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
KCNA5
(N299K)
Single nucleotide variant
(missense variant)
KCNA5-related disorder
+1 more
GUncertain significance
KCNA5
(G302W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(A4S)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(G174A)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
+1 more
GConflicting classifications of pathogenicity
KCNA5
(R201C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KCNA5
(T311S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
KCNA5
(R229G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA5
(N459D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNA5
(S171N)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA1, KCNA5
Duplication
Atrial fibrillation, familial, 7
GUncertain significance
A2ML1, ACRBP
+85 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
AKAP3, CCND2
+11 more
Duplication
Episodic ataxia type 1
GUncertain significance
KCNA1, KCNA5
Deletion
Atrial fibrillation, familial, 7
+1 more
GUncertain significance
KCNA5
(V107G)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 7
GUncertain significance
KCNA5
(R342S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNA5
(T311M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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