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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG6
Duplication
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign/Likely benign
COG6
(A10T)
Single nucleotide variant
(missense variant +1 more)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
+2 more
GBenign
COG6
(C32S)
Single nucleotide variant
(missense variant +1 more)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
+2 more
GBenign
COG6
(K38*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
COG6
Duplication
(intron variant)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
+4 more
GBenign/Likely benign
COG6
(H300Y)
Single nucleotide variant
(missense variant +1 more)
COG6-ongenital disorder of glycosylation
+3 more
GBenign/Likely benign
COG6
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
COG6
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
COG6
Single nucleotide variant
(intron variant)
COG6-related condition
+2 more
GPathogenic/Likely pathogenic
COG6
Single nucleotide variant
(intron variant)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
+2 more
GConflicting classifications of pathogenicity
COG6
Single nucleotide variant
(intron variant)
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
+2 more
GBenign/Likely benign
COG6
Deletion
(intron variant)
COG6-ongenital disorder of glycosylation
+3 more
GBenign/Likely benign
COG6
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
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