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Links from MedGen

Items: 1 to 100 of 1244

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN1
Deletion
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Deletion
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Deletion
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Deletion
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(M419L)
Single nucleotide variant
(missense variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely pathogenic
CLCN1
Single nucleotide variant
(splice donor variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely pathogenic
Congenital myotonia, autosomal recessive form
GPathogenic
CLCN1
(G491E)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
GLikely pathogenic
CLCN1, LOC123956257
(K680*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
GLikely pathogenic
CLCN1
(L287P)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
GLikely pathogenic
CLCN1
(Y850*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
GLikely pathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(R53L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1, LOC123956257
(L660fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(G285R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely pathogenic
CLCN1
(L954V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(I479L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(S842fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(Y393*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(G551A)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(splice acceptor variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely pathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(P478L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(splice acceptor variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely pathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(Y261*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(M410V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Deletion
(splice acceptor variant)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(S139N)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(H65D)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(V584D)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1, LOC123956257
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(E12fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(T833I)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(S892*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(A331G)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1, LOC123956257
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
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