C1832525[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583211	NM_000337.6(SGCD):c.4-1G>T	SGCD	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1L +1 more	GLikely pathogenic
Select item 2713565	NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)	SGCD	Microsatellite (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GPathogenic
Select item 1677453	NM_000337.6(SGCD):c.289C>T (p.Arg97Ter)	SGCD (R96* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 946381	NM_000337.6(SGCD):c.354_358del (p.Thr119fs)	SGCD (T118fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1L +1 more	GPathogenic
Select item 8172	NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)	SGCD (R165* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 8171	NM_000337.6(SGCD):c.657del (p.Thr220fs)	SGCD (T219fs +1 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F +1 more	GPathogenic
Select item 565683	NM_000337.6(SGCD):c.659C>T (p.Thr220Ile)	SGCD (T220I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2F	GUncertain significance
Select item 8174	NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)	SGCD (E262K +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L	GLikely pathogenic

ClinVar