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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSAP
(N157S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DNAJB6
(T193A)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
GUncertain significance