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Links from Gene

Items: 1 to 100 of 604

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLQ
(V213fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
Microsatellite
not provided
GLikely benign
COLQ
Copy number loss
Congenital myasthenic syndrome 5
GLikely pathogenic
COLQ
(T350N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
(M215V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
(G215R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
Deletion
Congenital myasthenic syndrome 5
GPathogenic
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
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
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
COLQ
(V282I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
(P301S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
COLQ, HACL1
Copy number loss
not specified
GUncertain significance
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
(G200R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
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
(Y294H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
(E180K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
Copy number loss
Congenital myasthenic syndrome 5
GPathogenic
COLQ
(M242fs +2 more)
Deletion
(frameshift variant)
Synaptic congenital myasthenic syndromes
GLikely pathogenic
COLQ
Deletion
Synaptic congenital myasthenic syndromes
GPathogenic
COLQ
(L325R +2 more)
Single nucleotide variant
(missense variant)
Synaptic congenital myasthenic syndromes
GUncertain significance
COLQ
(G238E +2 more)
Single nucleotide variant
(missense variant)
Synaptic congenital myasthenic syndromes
GPathogenic
COLQ
(G344R +2 more)
Single nucleotide variant
(missense variant)
Synaptic congenital myasthenic syndromes
GUncertain significance
COLQ
(L336M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
(C257fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome
GLikely pathogenic
COLQ
(Y353C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
(E75K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLQ
(G158S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
BTD, COLQ
+1 more
Deletion
Biotinidase deficiency
GPathogenic
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
(A304V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
COLQ
(C42Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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)
Congenital myasthenic syndrome 5
+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
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