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Links from MedGen

Items: 1 to 100 of 774

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Thomsen and Becker disease
GLikely pathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1, LOC123956257
(G650D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(H538P)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(D592N)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
GUncertain significance
CLCN1
(Y367fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
Single nucleotide variant
(splice donor variant)
Congenital myotonia, autosomal recessive form
GLikely pathogenic
CLCN1
(G898R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Deletion
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
Deletion
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
Deletion
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(T633A)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(G509S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(D344G)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(V372I)
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 recessive form
+1 more
GLikely benign
CLCN1
(V448L)
Single nucleotide variant
(missense variant)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(H451Q)
Single nucleotide variant
(missense variant)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive 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 recessive form
+1 more
GLikely benign
CLCN1, LOC123956257
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(T87S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(R199P)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GUncertain significance
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
(W148R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(S576C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(T633I)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(R370H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
CLCN1, LOC123956257
Single nucleotide variant
(synonymous 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
(N336S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(D822N)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(I119V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(S886T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CLCN1
(R5Q)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(E93K)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(V473M)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1, LOC123956257
(E695Q)
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
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
(D592G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CLCN1
(R390H)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(T602N)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(P760H)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(S18I)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GUncertain significance
CLCN1
(I553F)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(Q371fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(G270V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely pathogenic
CLCN1
(G200R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
Deletion
(inframe_deletion +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
LOC123956257, CLCN1
(E683A)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(T59fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(S70*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(P36L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(V236I)
Single nucleotide variant
(missense variant +1 more)
CLCN1-related condition
+2 more
GConflicting classifications of pathogenicity
CLCN1
(Q21fs)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CLCN1
(L427fs)
Deletion
(frameshift 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
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(F27L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(F399L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(G491R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(K147Q)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(G285V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(W433L)
Single nucleotide variant
(missense variant)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(A145fs)
Duplication
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(F178L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(R47Q)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 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 recessive form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(E980K)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GUncertain significance
CLCN1
(R377Q)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive 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
(L207F)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
LOC123956257, CLCN1
(P705L)
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
(T874S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GUncertain significance
LOC123956257, CLCN1
(M677V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(S941fs)
Microsatellite
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(Q21fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Deletion
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(F253L)
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 recessive form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(splice donor 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
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(splice donor 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
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