ClinVar for MedGen (Select 1847702) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699017	NM_006663.4(PPP1R13L):c.1068dup (p.Ser357fs)	PPP1R13L (S357fs)	Duplication (frameshift variant)	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1188825	NM_006663.4(PPP1R13L):c.580C>T (p.Gln194Ter)	PPP1R13L (Q194*)	Single nucleotide variant (nonsense)	OMIM:607463	GPathogenic
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
Select item 974804	NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs)	PPP1R13L (P537fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 974803	NM_006663.4(PPP1R13L):c.2486_2487delinsTC (p.Ter829Phe)	PPP1R13L	Indel (stop lost)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 427813	NM_006663.4(PPP1R13L):c.2241C>G (p.Tyr747Ter)	PPP1R13L (Y747*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities +1 more	GPathogenic

ClinVar