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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG11
(V33M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALG11
(L46P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALG11
(N108S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ALG11
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ALG11
(L268I)
Single nucleotide variant
(missense variant)
ALG11-related condition
+2 more
GConflicting classifications of pathogenicity
ALG11, UTP14C
(M395V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ALG11, UTP14C
(I414N)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UTP14C, ALG11
(F437V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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