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Links from MedGen

Items: 1 to 100 of 535

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA1
(K310N)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1, LOC130007218
(A12P)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(V471F)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(V381M)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(Q20K)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(E146Q)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(P143S)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(D74Y)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(P403S)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GPathogenic
KCNA1
(M461I)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(K118R)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(K304R)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1, LOC130007218
(G6A)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(D90N)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(I137V)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(F256C)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1, LOC130007218
(A14S)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
+1 more
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(M378V)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Insertion
(inframe_insertion)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(T247M)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(E128G)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1, LOC130007218
(T2K)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(V430I)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(D21Y)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(E325G)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(S88N)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(C35R)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(V153A)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(R47P)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(E325K)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(I294N)
Indel
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(G200R)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(E187Q)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(V430F)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
(D219E)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(G389D)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(K118E)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(T480A)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(Y265H)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(H429Q)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(G99S)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(Q51L)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(N255fs)
Duplication
(frameshift variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(E161K)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(Y149*)
Single nucleotide variant
(nonsense)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(F249L)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(S306F)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(I267V)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(V153L)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
KCNA1
(S322R)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GLikely pathogenic
KCNA1
(H203Y)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
+1 more
GUncertain significance
KCNA1
(L288Q)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GLikely pathogenic
KCNA1
(V368L)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GPathogenic
KCNA1
(V168I)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
KCNA1
(H203R)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
AKAP3, C12orf4
+11 more
Duplication
Episodic ataxia type 1
GUncertain significance
KCNA1, KCNA5
Deletion
Episodic ataxia type 1
GUncertain significance
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 1
GLikely benign
KCNA1
(M461V)
Single nucleotide variant
(missense variant)
Episodic ataxia type 1
GUncertain significance
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