ClinVar for MedGen (Select 322782) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2899578	NM_002667.5(PLN):c.136T>C (p.Cys46Arg)	CEP85L, PLN (C46R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2884459	NM_002667.5(PLN):c.21C>T (p.Leu7=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 2831857	NM_002667.5(PLN):c.129G>C (p.Leu43Phe)	CEP85L, PLN (L43F)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2830094	NM_002667.5(PLN):c.94T>C (p.Phe32Leu)	CEP85L, PLN (F32L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2804319	NM_002667.5(PLN):c.51C>A (p.Thr17=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 2742841	NM_002667.5(PLN):c.33T>C (p.Ala11=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 2700866	NM_002667.5(PLN):c.126C>T (p.Leu42=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 2424515	NC_000006.11:g.(?_118880085)_(118880243_?)dup	PLN, CEP85L	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2186050	NM_002667.5(PLN):c.69A>G (p.Gln23=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P +1 more	GLikely benign
Select item 2181774	NM_002667.5(PLN):c.16T>C (p.Tyr6His)	CEP85L, PLN (Y6H)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2145755	NM_002667.5(PLN):c.45C>A (p.Ala15=)	CEP85L, PLN	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2136456	NM_002667.5(PLN):c.121T>A (p.Cys41Ser)	PLN, CEP85L (C41S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2090664	NM_002667.5(PLN):c.31G>C (p.Ala11Pro)	CEP85L, PLN (A11P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1977709	NM_002667.5(PLN):c.105_106del (p.Phe35fs)	CEP85L, PLN (F35fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 1949069	NM_002667.5(PLN):c.145_158del (p.Val49fs)	CEP85L, PLN (V49fs)	Deletion (intron variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1949066	NM_002667.5(PLN):c.143T>G (p.Ile48Ser)	CEP85L, PLN (I48S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1762832	NM_002667.5(PLN):c.126_127del (p.Leu43fs)	CEP85L, PLN (L43fs)	Microsatellite (intron variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1733083	NM_002667.5(PLN):c.35T>C (p.Ile12Thr)	CEP85L, PLN (I12T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1627181	NM_002667.5(PLN):c.138T>C (p.Cys46=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 1504806	NM_001042475.3(CEP85L):c.1020+17347A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 1459545	NC_000006.11:g.(?_118880085)_(118880243_?)del	CEP85L, PLN	Deletion	Dilated cardiomyopathy 1P	GPathogenic
Select item 1453340	NM_002667.5(PLN):c.95_98del (p.Phe32fs)	CEP85L, PLN (F32fs)	Deletion (intron variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 1415631	NM_002667.5(PLN):c.56A>G (p.Glu19Gly)	CEP85L, PLN (E19G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1399599	NM_002667.5(PLN):c.141C>G (p.Ile47Met)	CEP85L, PLN (I47M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1385567	NM_002667.5(PLN):c.31G>A (p.Ala11Thr)	PLN, CEP85L (A11T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1375385	NM_002667.5(PLN):c.124C>A (p.Leu42Ile)	CEP85L, PLN (L42I)	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1346972	NM_002667.5(PLN):c.79A>G (p.Lys27Glu)	CEP85L, PLN (K27E)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1151456	NM_002667.5(PLN):c.156C>A (p.Leu52=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1072579	NM_002667.5(PLN):c.9dup (p.Val4fs)	CEP85L, PLN (V4fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 1059005	NM_002667.5(PLN):c.154C>A (p.Leu52Ile)	CEP85L, PLN (L52I)	Single nucleotide variant (intron variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 1056123	NC_000006.11:g.(?_118868442)_(118882587_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1046834	NC_000006.11:g.(?_118879986)_(118880253_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1017276	NM_002667.5(PLN):c.149T>C (p.Met50Thr)	CEP85L, PLN (M50T)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 1013760	NM_001042475.3(CEP85L):c.1020+17353T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 949832	NM_002667.5(PLN):c.85C>T (p.Gln29Ter)	CEP85L, PLN (Q29*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 940239	NM_002667.5(PLN):c.26_29dup (p.Ala11fs)	PLN, CEP85L (A11fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 907408	NM_001042475.3(CEP85L):c.1020+5442A>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 907407	NM_001042475.3(CEP85L):c.1020+5546C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 907406	NM_001042475.3(CEP85L):c.1020+6172T>C	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 906404	NM_001042475.3(CEP85L):c.1020+6297C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 906403	NM_001042475.3(CEP85L):c.1020+6369A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 906402	NM_002667.5(PLN):c.90T>C (p.Asn30=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P	GConflicting classifications of pathogenicity
Select item 906401	NM_001042475.3(CEP85L):c.1020+6663G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904852	NM_001042475.3(CEP85L):c.1020+5127G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 904851	NM_001042475.3(CEP85L):c.1020+5170C>T	PLN, CEP85L	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 904075	NM_001042475.3(CEP85L):c.1020+5250A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 904074	NM_001042475.3(CEP85L):c.1020+5351A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 904073	NM_001042475.3(CEP85L):c.1020+5437T>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 839623	NM_002667.5(PLN):c.151C>A (p.Leu51Ile)	CEP85L, PLN (L51I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 700703	NM_002667.5(PLN):c.144C>T (p.Ile48=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	PLN-related condition +2 more	GLikely benign
Select item 657898	NC_000006.12:g.(?_118548061)_(118559090_?)del	CEP85L, PLN	Deletion	Dilated cardiomyopathy 1P	GPathogenic
Select item 641547	NC_000006.11:g.(?_118869224)_(118880253_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 626483	NM_002667.5(PLN):c.36A>G (p.Ile12Met)	CEP85L, PLN (I12M)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 573774	NM_002667.5(PLN):c.53T>C (p.Ile18Thr)	CEP85L, PLN (I18T)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 532920	NM_002667.5(PLN):c.113T>C (p.Ile38Thr)	CEP85L, PLN (I38T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 511655	NM_002667.5(PLN):c.27C>A (p.Arg9=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P +1 more	GLikely benign
Select item 464270	NM_002667.5(PLN):c.41G>T (p.Arg14Ile)	CEP85L, PLN (R14I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 464269	NM_002667.5(PLN):c.29C>T (p.Ser10Leu)	CEP85L, PLN (S10L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 464268	NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup)	CEP85L, PLN	Duplication (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 464267	NC_000006.11:g.(?_118869382)_(118880263_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 410617	NM_002667.5(PLN):c.22A>C (p.Thr8Pro)	PLN, CEP85L (T8P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 410616	NM_002667.5(PLN):c.74G>A (p.Arg25His)	CEP85L, PLN (R25H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 403328	NM_001042475.3(CEP85L):c.1020+17269T>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Lissencephaly 10 +3 more	GBenign
Select item 355153	NM_001042475.3(CEP85L):c.1020+5206G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 355152	NM_001042475.3(CEP85L):c.1020+5224G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 355151	NM_001042475.3(CEP85L):c.1020+5269T>C	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 355150	NM_001042475.3(CEP85L):c.1020+5277A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 355149	NM_001042475.3(CEP85L):c.1020+5314G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 355148	NM_001042475.3(CEP85L):c.1020+5379A>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 355147	NM_001042475.3(CEP85L):c.1020+5558G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 355146	NM_001042475.3(CEP85L):c.1020+5572A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 355144	NM_001042475.3(CEP85L):c.1020+5868G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 355142	NM_001042475.3(CEP85L):c.1020+6034A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 355141	NM_001042475.3(CEP85L):c.1020+6052A>C	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GBenign
Select item 355140	NM_001042475.3(CEP85L):c.1020+6199A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 355138	NM_001042475.3(CEP85L):c.1020+6359C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 355137	NM_001042475.3(CEP85L):c.1020+6360T>C	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GLikely benign
Select item 355136	NM_001042475.3(CEP85L):c.1020+6709A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 355135	NM_001042475.3(CEP85L):c.1020+17159G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 355134	NM_001042475.3(CEP85L):c.1020+17181A>T	PLN, CEP85L	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 355133	NM_001042475.3(CEP85L):c.1020+17189C>T	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 239215	NM_002667.4(PLN):c.-97-?_*1344+?dup1600	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 239214	NM_002667.4(PLN):c.-97-?_*1344+?del	PLN	Deletion	Dilated cardiomyopathy 1P	GPathogenic
Select item 239212	NM_001042475.3(CEP85L):c.1020+17280C>A	CEP85L, PLN	Single nucleotide variant (intron variant)	PLN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 234806	NM_002667.5(PLN):c.34A>G (p.Ile12Val)	CEP85L, PLN (I12V)	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GUncertain significance
Select item 220851	NM_001042475.3(CEP85L):c.1020+17275G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 202184	NM_002667.5(PLN):c.131T>C (p.Leu44Pro)	CEP85L, PLN (L44P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 202040	NM_002667.5(PLN):c.73C>T (p.Arg25Cys)	PLN, CEP85L (R25C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 202039	NM_002667.5(PLN):c.63_64dup (p.Gln22fs)	CEP85L, PLN (Q22fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 202038	NM_002667.5(PLN):c.73C>G (p.Arg25Gly)	CEP85L, PLN (R25G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 202037	NM_002667.5(PLN):c.26G>A (p.Arg9His)	CEP85L, PLN (R9H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 202036	NM_002667.5(PLN):c.145G>A (p.Val49Met)	CEP85L, PLN (V49M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 44582	NM_002667.5(PLN):c.61C>A (p.Pro21Thr)	CEP85L, PLN (P21T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P +2 more	GUncertain significance
Select item 44581	NM_002667.5(PLN):c.43G>A (p.Ala15Thr)	CEP85L, PLN (A15T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_deletion +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 44578	NM_002667.5(PLN):c.27C>T (p.Arg9=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44577	NM_002667.5(PLN):c.152T>C (p.Leu51Pro)	PLN, CEP85L (L51P)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 29836	NM_001042475.3(CEP85L):c.1020+17310T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	CEP85L, PLN (L39*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 13636	NM_002667.5(PLN):c.25C>T (p.Arg9Cys)	CEP85L, PLN (R9C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic

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Items: 100