C0007193[trait identifier] AND "Exeter Molecular Genetics Laboratory"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974803	NM_006663.4(PPP1R13L):c.2486_2487delinsTC (p.Ter829Phe)	PPP1R13L	Indel (stop lost)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 974809	NM_006663.4(PPP1R13L):c.2396G>C (p.Trp799Ser)	PPP1R13L (W799S)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 974806	NM_006663.4(PPP1R13L):c.2167A>C (p.Thr723Pro)	PPP1R13L (T723P)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 974804	NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs)	PPP1R13L (P537fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 974807	NM_006663.4(PPP1R13L):c.1537del (p.Val513fs)	PPP1R13L (V513fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 974808	NM_006663.4(PPP1R13L):c.1219C>T (p.Gln407Ter)	PPP1R13L (Q407*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 974805	NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs)	PPP1R13L (P246fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +1 more	GPathogenic/Likely pathogenic

ClinVar