"Institute for Molecular Bioscience, The University of Queensland"[sub - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326848	NM_213599.3(ANO5):c.294+5G>A	ANO5	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L	GPathogenic
Select item 1327991	NM_213599.3(ANO5):c.952G>C (p.Ala318Pro)	ANO5 (A317P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L	GLikely pathogenic