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Links from Gene

Items: 1 to 100 of 633

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTN1
Single nucleotide variant
(synonymous variant)
CNTN1-related disorder
GLikely benign
CNTN1
(R449S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(W454C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(Q514R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(L987P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CNTN1
(R843Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(P812L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(W453S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
Deletion
Compton-North congenital myopathy
GPathogenic
ABCD2, ADAMTS20
+34 more
Copy number gain
not specified
GPathogenic
CNTN1
Single nucleotide variant
(intron variant)
CNTN1-related disorder
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
CNTN1-related disorder
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
CNTN1-related disorder
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(Q236* +1 more)
Single nucleotide variant
(nonsense)
Compton-North congenital myopathy
GPathogenic
CNTN1
(Y151fs +1 more)
Duplication
(frameshift variant)
Compton-North congenital myopathy
GPathogenic
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Deletion
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(R560* +1 more)
Single nucleotide variant
(nonsense)
Compton-North congenital myopathy
GPathogenic
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(splice acceptor variant)
Compton-North congenital myopathy
GLikely pathogenic
CNTN1
Single nucleotide variant
(splice donor variant +1 more)
Compton-North congenital myopathy
GLikely pathogenic
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(L19S)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(V432E +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Deletion
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(A788V +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(I725V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(R132G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(G805D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(E373G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(H837N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(V7D)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Deletion
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(K195N +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(S51A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(G306R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(S62L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(D332N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(I644S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CNTN1
(L1002I +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
+1 more
GUncertain significance
CNTN1
(L723V +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(P231L +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(D586H +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(R966H +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(H361Q +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(V94A +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
+1 more
GUncertain significance
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Deletion
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(V135I +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(V63G +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(P126A +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(I955V +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(V535L +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
(P898A +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(R90* +1 more)
Single nucleotide variant
(nonsense)
Compton-North congenital myopathy
GPathogenic
CNTN1
Duplication
(inframe_insertion)
Compton-North congenital myopathy
GUncertain significance
CNTN1
(S625I +1 more)
Single nucleotide variant
(missense variant)
Compton-North congenital myopathy
GUncertain significance
CNTN1
Single nucleotide variant
(intron variant)
Compton-North congenital myopathy
GLikely benign
CNTN1
Single nucleotide variant
(synonymous variant)
Compton-North congenital myopathy
GLikely benign
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