"PreventionGenetics, part of Exact Sciences"[submitter] AND "CASQ1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715941	NM_001231.5(CASQ1):c.130G>A (p.Asp44Asn)	CASQ1 (D44N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1625631	NM_001231.5(CASQ1):c.260T>C (p.Met87Thr)	CASQ1 (M87T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2439763	NM_001231.5(CASQ1):c.429G>C (p.Glu143Asp)	CASQ1 (E143D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 715791	NM_001231.5(CASQ1):c.447C>T (p.Ile149=)	CASQ1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2162707	NM_001231.5(CASQ1):c.515C>T (p.Ala172Val)	CASQ1 (A172V)	Single nucleotide variant (missense variant)	CASQ1-related condition +1 more	GUncertain significance
Select item 1365538	NM_001231.5(CASQ1):c.748GAG[1] (p.Glu251del)	CASQ1 (E251del)	Microsatellite (inframe_deletion)	Myopathy due to calsequestrin and SERCA1 protein overload +2 more	GUncertain significance
Select item 2630377	NM_001231.5(CASQ1):c.769GAG[1] (p.Glu258del)	CASQ1 (E258del)	Microsatellite (inframe_deletion)	CASQ1-related condition +1 more	GUncertain significance

ClinVar