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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FHL1
(S10C +1 more)
Single nucleotide variant
(missense variant +2 more)
X-linked scapuloperoneal muscular dystrophy
GUncertain significance
AMER1, AMMECR1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic