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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG6
(H43N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALG6
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALG6
(Y131H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
ALG6
(K274E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ALG6
(S304F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
ALG6
Single nucleotide variant
(synonymous variant)
ALG6-related condition
+3 more
GBenign/Likely benign
ALG6
(P467L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALG6
(M494T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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