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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLQ
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COLQ
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
COLQ
(D370N +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
COLQ
(Y363H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COLQ
(P351fs +2 more)
Deletion
(frameshift variant)
Congenital myasthenic syndrome
+3 more
GPathogenic
COLQ
(G246A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COLQ
(G225A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COLQ
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COLQ
(K131E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COLQ
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
COLQ
(R45C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COLQ
(S5fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
COLQ
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COLQ
(T8S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 5
+2 more
GConflicting classifications of pathogenicity
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