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Links from MedGen

Items: 1 to 100 of 446

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLQ
Deletion
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Single nucleotide variant
(splice acceptor variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(Q14*)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(M73fs +1 more)
Deletion
(frameshift variant +1 more)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(G152* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(P53fs +1 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(C383Y +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(G255* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
(D413V +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(D308E +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(G273* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Deletion
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(L30fs +1 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(G194V +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(Q32* +1 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Single nucleotide variant
(splice acceptor variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Single nucleotide variant
(splice donor variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(K163* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Single nucleotide variant
(splice donor variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(Q107fs +1 more)
Duplication
(frameshift variant +1 more)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Single nucleotide variant
(splice acceptor variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(L318fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(P32fs)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(Q80* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(C410Y +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(Q107* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(F57fs +1 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(R202* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
(L297fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(Q177* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Deletion
(nonsense)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(F250fs +2 more)
Duplication
(frameshift variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Single nucleotide variant
(splice donor variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Single nucleotide variant
(splice acceptor variant)
Congenital myasthenic syndrome 5
GPathogenic/Likely pathogenic
COLQ
Copy number loss
Congenital myasthenic syndrome 5
GPathogenic
COLQ
(L27fs +1 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
(G385S +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(I27V)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(P226R +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(P100L +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(R256K +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
+1 more
GUncertain significance
COLQ
(N71fs +1 more)
Duplication
(frameshift variant +1 more)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Duplication
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(P49S +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GPathogenic/Likely pathogenic
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Duplication
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(P59Q +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(C430R +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(G60V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(G108D +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(I275V +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(G158W +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(C371S +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(P104H +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(M79V +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(T55A +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(C257G +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
(G252R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(G218* +2 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(L37fs +1 more)
Duplication
(frameshift variant)
Congenital myasthenic syndrome 5
GPathogenic
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
(T196A +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
GUncertain significance
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(synonymous variant)
Congenital myasthenic syndrome 5
GLikely benign
COLQ
Single nucleotide variant
(intron variant)
Congenital myasthenic syndrome 5
GLikely benign
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