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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAJB6
(L227F)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance
ABCB8, ABCF2
+229 more
Copy number gain
not provided
GPathogenic