"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220918	NM_001161403.3(LIMS2):c.964A>T (p.Lys322Ter)	LIMS2 (K170* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 3065195	NM_001161403.3(LIMS2):c.430del (p.His144fs)	LIMS2 (H139fs +3 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely pathogenic