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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOR1AIP1
(S252L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2Y
GUncertain significance
ABL2, ACBD6
+70 more
Copy number gain
not provided
GPathogenic