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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG6
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALG6
(W94C)
Single nucleotide variant
(missense variant)
ALG6-congenital disorder of glycosylation 1C
+2 more
GUncertain significance
ALG6
(I159V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALG6
(Y166H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG6
(G177S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALG6
(I197M)
Single nucleotide variant
(missense variant)
ALG6-congenital disorder of glycosylation 1C
+1 more
GUncertain significance
ALG6
(C212G)
Single nucleotide variant
(missense variant)
ALG6-congenital disorder of glycosylation 1C
+1 more
GUncertain significance
ALG6
(V238F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG6
(F306I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ALG6
(I317T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ALG6
(T374A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ALG6
(V402I)
Single nucleotide variant
(missense variant)
ALG6-congenital disorder of glycosylation 1C
+1 more
GUncertain significance
ALG6
(C431G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALG6
(Y441C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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