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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GM2A
(I103T)
Single nucleotide variant
(missense variant)
Tay-Sachs disease, variant AB
GUncertain significance
GM2A
Single nucleotide variant
(intron variant)
Tay-Sachs disease, variant AB
GUncertain significance