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Items: 1 to 100 of 1209

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(R5W)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CLCN1
(R5Q)
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
(Q7*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(R9S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(R9H)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+4 more
GBenign/Likely benign
CLCN1
(G11fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic/Likely pathogenic
CLCN1
(G11A)
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 recessive form
+1 more
GLikely benign
CLCN1
(E12fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(Q13K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CLCN1
(W15R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
Deletion
(splice acceptor variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(W16*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic/Likely pathogenic
CLCN1
(S18I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
CLCN1
(Q21fs)
Duplication
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GPathogenic/Likely pathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(Q21fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(Q23H)
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 recessive form
+1 more
GLikely benign
CLCN1
(F27L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(H29P)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
CLCN1
(T31A)
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 recessive form
+1 more
GLikely benign
CLCN1
(Y33*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(G34R)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(P36L)
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
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive 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)
not provided
+2 more
GLikely benign
CLCN1
(Q43*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
(Q43P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(R45G)
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
(R47W)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+2 more
GConflicting classifications of pathogenicity
CLCN1
(R47Q)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(A50G)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(G51S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(P52A)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Batten-Turner congenital myopathy
+2 more
GConflicting classifications of pathogenicity
CLCN1
(R53C)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+4 more
GUncertain significance
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 recessive form
+1 more
GLikely benign
CLCN1
(V56F)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(V56I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(T59fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive 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
+2 more
GPathogenic
CLCN1
Single nucleotide variant
(intron variant)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
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
Single nucleotide variant
(intron variant)
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
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
(intron variant)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(splice acceptor variant)
Congenital myotonia, autosomal recessive form
+1 more
GLikely pathogenic
CLCN1
(I61L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(G63S)
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 recessive form
+1 more
GLikely benign
CLCN1
(H65D)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(E67fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(E67fs)
Deletion
(frameshift variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
CLCN1
(S70*)
Single nucleotide variant
(nonsense +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(S70L)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GUncertain significance
CLCN1
(R72G)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(R72T)
Single nucleotide variant
(missense variant +1 more)
Batten-Turner congenital myopathy
+2 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(Q74*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GPathogenic
CLCN1
(D75V)
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
(P79S)
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
(T82A)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GLikely benign
CLCN1
(T82I)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal dominant form
+1 more
GUncertain significance
CLCN1
(S85G)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(T87S)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(T87I)
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
(synonymous variant +1 more)
Congenital myotonia, autosomal dominant form
+4 more
GBenign
CLCN1
(V88M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+3 more
GPathogenic/Likely pathogenic
CLCN1
(D89G)
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 recessive form
+1 more
GLikely benign
CLCN1
(E93K)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GUncertain significance
CLCN1
(D94V)
Single nucleotide variant
(missense variant +1 more)
Congenital myotonia, autosomal recessive form
+2 more
GUncertain significance
CLCN1
Single nucleotide variant
(synonymous variant +1 more)
Congenital myotonia, autosomal recessive form
+1 more
GLikely benign
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