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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN1
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic
CLCN1
(L127fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN1
(F167L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+5 more
GConflicting classifications of pathogenicity
CLCN1
Single nucleotide variant
(splice donor variant)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic/Likely pathogenic
CLCN1
(V202fs)
Duplication
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
(Y257*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Abnormality of the musculature
+2 more
GPathogenic/Likely pathogenic
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
(E291*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
(F297fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
(A313T)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GPathogenic/Likely pathogenic
CLCN1
(F343I)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN1
(F428fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic
CLCN1
Single nucleotide variant
(splice donor variant)
Congenital myotonia, autosomal dominant form
+2 more
GPathogenic/Likely pathogenic
CLCN1
(G499R)
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
(G534S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(T550R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN1, LOC123956257
(Q662*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1, LOC123956257
(C666fs)
Microsatellite
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1, LOC123956257
(E668*)
Duplication
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
Single nucleotide variant
(splice donor variant)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic
CLCN1
(G845S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(R894*)
Single nucleotide variant
(nonsense +1 more)
Tip-toe gait
+8 more
GPathogenic/Likely pathogenic
CLCN1
(E955V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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