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Links from Gene

Items: 1 to 100 of 880

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLCN6
(R513fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
CLCN6
(G73D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(A190V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(G66R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(K486R +1 more)
Single nucleotide variant
(missense variant +1 more)
CLCN6-related disorder
GUncertain significance
CLCN6
(E139Q +1 more)
Single nucleotide variant
(missense variant +1 more)
CLCN6-related disorder
GUncertain significance
CLCN6
(V187M +1 more)
Single nucleotide variant
(missense variant +1 more)
CLCN6-related disorder
GUncertain significance
CLCN6
(D40A)
Single nucleotide variant
(missense variant +1 more)
CLCN6-related disorder
GUncertain significance
CLCN6
(F549L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(G459V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(E178A)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
GPathogenic
DNAJC11, DRAXIN
+76 more
Deletion
not provided
GUncertain significance
CLCN6
Deletion
not provided
GUncertain significance
AGTRAP, FBXO6
+21 more
Deletion
not provided
GUncertain significance
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
CLCN6
(M68I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CLCN6
(G6R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLCN6
(E39D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLCN6
(N333K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CLCN6
(V72L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
GLikely benign
AADACL3, AADACL4
+80 more
Copy number loss
not specified
GPathogenic
CLCN6
(G237R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(V733A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(Y413* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(S726L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(P130L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(V613L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6, LOC129929417
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLCN6
(A500T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(N628K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(T457I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(P809R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CLCN6
(T519M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(E754K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(V572A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CLCN6
(S496L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(P816S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(S371P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(T606R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
CLCN6
(E97D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(V558L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(R156W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(T255M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(G253E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(R672C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(M332V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(V351I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(D764E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(S371L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(T693A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(F254S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(M667fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CLCN6
(M438L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(G3R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(A527V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(Q218R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CLCN6
(R735W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(L357F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(P346L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CLCN6
(R665Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(G510R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CLCN6
(R861Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
Display optionsSort by RelevanceDownload
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