ClinVar for MedGen (Select 462615) - ClinVar

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Items: 21

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 17090411.	NM_002667.5(PLN):c.63_64del (p.Gln22fs) GRCh37: Chr6:118880146-118880147 GRCh38: Chr6:118558983-118558984	CEP85L, PLN	Q22fs	Hypertrophic cardiomyopathy 18	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 15048062.	NM_001042475.3(CEP85L):c.1020+17347A>G GRCh37: Chr6:118869345 GRCh38: Chr6:118548182	PLN, CEP85L		Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10296233.	NM_002667.5(PLN):c.61C>T (p.Pro21Ser) GRCh37: Chr6:118880145 GRCh38: Chr6:118558982	CEP85L, PLN	P21S	Hypertrophic cardiomyopathy 18	Uncertain significance (Feb 14, 2019)	criteria provided, single submitter
Select item 9074084.	NM_001042475.3(CEP85L):c.1020+5442A>T GRCh37: Chr6:118881250 GRCh38: Chr6:118560087	CEP85L, PLN		Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P	Uncertain significance (Jul 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9074065.	NM_001042475.3(CEP85L):c.1020+6172T>C GRCh37: Chr6:118880520 GRCh38: Chr6:118559357	CEP85L, PLN		Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9048516.	NM_001042475.3(CEP85L):c.1020+5170C>T GRCh37: Chr6:118881522 GRCh38: Chr6:118560359	CEP85L, PLN		Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P	Uncertain significance (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5737747.	NM_002667.5(PLN):c.53T>C (p.Ile18Thr) GRCh37: Chr6:118880137 GRCh38: Chr6:118558974	CEP85L, PLN	I18T	Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Hypertrophic cardiomyopathy	Uncertain significance (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3551538.	NM_001042475.3(CEP85L):c.1020+5206G>A GRCh37: Chr6:118881486 GRCh38: Chr6:118560323	CEP85L, PLN		Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3551529.	NM_001042475.3(CEP85L):c.1020+5224G>A GRCh37: Chr6:118881468 GRCh38: Chr6:118560305	CEP85L, PLN		Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35514910.	NM_001042475.3(CEP85L):c.1020+5314G>A GRCh37: Chr6:118881378 GRCh38: Chr6:118560215	CEP85L, PLN		Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P	Uncertain significance (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35514711.	NM_001042475.3(CEP85L):c.1020+5558G>A GRCh37: Chr6:118881134 GRCh38: Chr6:118559971	CEP85L, PLN		Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P	Uncertain significance (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35514212.	NM_001042475.3(CEP85L):c.1020+6034A>G GRCh37: Chr6:118880658 GRCh38: Chr6:118559495	CEP85L, PLN		Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P	Uncertain significance (Jul 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35513513.	NM_001042475.3(CEP85L):c.1020+17159G>A GRCh37: Chr6:118869533 GRCh38: Chr6:118548370	CEP85L, PLN		Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P	Uncertain significance (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 35513414.	NM_001042475.3(CEP85L):c.1020+17181A>T GRCh37: Chr6:118869511 GRCh38: Chr6:118548348	PLN, CEP85L		Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22085115.	NM_001042475.3(CEP85L):c.1020+17275G>C GRCh37: Chr6:118869417 GRCh38: Chr6:118548254	CEP85L, PLN		Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20218416.	NM_002667.5(PLN):c.131T>C (p.Leu44Pro) GRCh37: Chr6:118880215 GRCh38: Chr6:118559052	CEP85L, PLN	L44P	Cardiovascular phenotype, Dilated cardiomyopathy 1P	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20203617.	NM_002667.5(PLN):c.145G>A (p.Val49Met) GRCh37: Chr6:118880229 GRCh38: Chr6:118559066	PLN, CEP85L	V49M	Cardiovascular phenotype, Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, not provided, Cardiomyopathy, Dilated cardiomyopathy 1P	Uncertain significance (Jan 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4458218.	NM_002667.5(PLN):c.61C>A (p.Pro21Thr) GRCh37: Chr6:118880145 GRCh38: Chr6:118558982	CEP85L, PLN	P21T	Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, not provided, Dilated cardiomyopathy 1P	Uncertain significance (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4458019.	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) GRCh37: Chr6:118880120-118880122 GRCh38: Chr6:118558957-118558959	CEP85L, PLN	R14del	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, SUDDEN INFANT DEATH SYNDROME, Primary dilated cardiomyopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 2983620.	NM_001042475.3(CEP85L):c.1020+17310T>C GRCh37: Chr6:118869382 GRCh38: Chr6:118548219	PLN, CEP85L		Dilated cardiomyopathy 1P	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 1363721.	NM_002667.5(PLN):c.116T>G (p.Leu39Ter) GRCh37: Chr6:118880200 GRCh38: Chr6:118559037	CEP85L, PLN	L39*	Cardiovascular phenotype, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Cardiomyopathy, not provided, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 21