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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GM2A
(Q2*)
Single nucleotide variant
(nonsense)
Tay-Sachs disease, variant AB
GLikely pathogenic
HEXA
(Y427fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic