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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANO5
(M542fs +1 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+3 more
GPathogenic
ANO5
(R758C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2L
+3 more
GPathogenic/Likely pathogenic
ANO5
(M833K +1 more)
Single nucleotide variant
(missense variant)
Gnathodiaphyseal dysplasia
+4 more
GPathogenic/Likely pathogenic
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