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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic
CLCN1
(Q74*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(splice acceptor variant)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic
CLCN1
Duplication
(splice acceptor variant)
Congenital myotonia, autosomal recessive form
+2 more
GConflicting classifications of pathogenicity
CLCN1
(G190S)
Indel
(missense variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
CLCN1
(E291K)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GPathogenic/Likely pathogenic
CLCN1
(F306L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
GPathogenic
CLCN1
(A313T)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GPathogenic/Likely pathogenic
CLCN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CLCN1
(R338*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic/Likely pathogenic
CLCN1
(A350fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic/Likely pathogenic
CLCN1
(G355R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic/Likely pathogenic
CLCN1
(G355E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(P480fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+4 more
GPathogenic/Likely pathogenic
CLCN1
(G523V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLCN1
(A529V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
GUncertain significance
CLCN1
(P558L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(V640G)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GConflicting classifications of pathogenicity
CLCN1
(E801*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN1
(Q812*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GPathogenic
CLCN1
(R894*)
Single nucleotide variant
(nonsense +1 more)
Tip-toe gait
+8 more
GPathogenic/Likely pathogenic
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