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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN1
(M128V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely pathogenic
CLCN1
(G230E)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+3 more
GPathogenic
CLCN1
(I290M)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic
CLCN1
(T310M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
CLCN1
(R317Q)
Single nucleotide variant
(missense variant +1 more)
Memory impairment
+8 more
GPathogenic/Likely pathogenic
CLCN1
(F428S)
Single nucleotide variant
(missense variant)
Congenital myotonia, autosomal recessive form
+2 more
GConflicting classifications of pathogenicity
CLCN1
(P480L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(A531V)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
CLCN1
(T550M)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GPathogenic
CLCN1
(Q552R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic/Likely pathogenic
CLCN1
(G777fs)
Deletion
(frameshift variant +1 more)
Batten-Turner congenital myopathy
Gnot provided
CLCN1
(R894*)
Single nucleotide variant
(nonsense +1 more)
not provided
+8 more
GPathogenic/Likely pathogenic
CLCN1
(P932L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GUncertain significance
CLCN1
(R976*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+3 more
GUncertain significance
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