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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALG13
(N218D +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ALG13
(Q355R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ALG13
(M637T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
ALG13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ALG13
Microsatellite
(inframe_insertion +1 more)
ALG13-related condition
+3 more
GConflicting classifications of pathogenicity
ALG13
(P945del +1 more)
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ALG13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
ALG13
(C992Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
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