Related gene-specific medical variations for Gene (Select 387119) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360289	NM_001042475.3(CEP85L):c.511G>A (p.Gly171Ser)	CEP85L (G171S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252377	NM_002667.5(PLN):c.-97G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3143076	NM_001042475.3(CEP85L):c.28G>C (p.Ala10Pro)	CEP85L, LOC129997071 (A10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064370	NM_001042475.3(CEP85L):c.2089C>T (p.Gln697Ter)	CEP85L (Q697* +1 more)	Single nucleotide variant (nonsense)	Lissencephaly 10	GLikely pathogenic
Select item 2899578	NM_002667.5(PLN):c.136T>C (p.Cys46Arg)	PLN, CEP85L (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)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2742841	NM_002667.5(PLN):c.33T>C (p.Ala11=)	PLN, CEP85L	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 2632690	NM_001042475.3(CEP85L):c.24_30del (p.Glu9fs)	CEP85L, LOC129997071 (E9fs)	Deletion (frameshift variant +1 more)	CEP85L-related disorder	GUncertain significance
Select item 2586350	NM_002667.5(PLN):c.87G>T (p.Gln29His)	PLN, CEP85L (Q29H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2566092	NM_002667.5(PLN):c.150G>A (p.Met50Ile)	CEP85L, PLN (M50I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2566091	NM_002667.5(PLN):c.150_159delinsAC (p.Met50fs)	CEP85L, PLN (M50fs)	Indel (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2507292	NM_002667.5(PLN):c.157T>G (p.Ter53Gly)	CEP85L, PLN	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2439919	NM_001042475.3(CEP85L):c.34G>C (p.Gly12Arg)	CEP85L, LOC129997071 (G12R)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 10	GUncertain significance
Select item 2439918	NM_001042475.3(CEP85L):c.451del (p.Arg151fs)	CEP85L (R151fs +1 more)	Deletion (frameshift variant)	Lissencephaly 10	GUncertain significance
Select item 2439917	NM_001042475.3(CEP85L):c.1871_1874del (p.Asp624fs)	CEP85L (D624fs +1 more)	Deletion (frameshift variant)	Lissencephaly 10	GUncertain significance
Select item 2439916	NM_001042475.3(CEP85L):c.1590+3A>T	CEP85L	Single nucleotide variant (intron variant)	Lissencephaly 10	GUncertain significance
Select item 2439915	NM_001042475.3(CEP85L):c.1103A>G (p.Glu368Gly)	CEP85L (E368G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2439914	NM_001042475.3(CEP85L):c.2135T>C (p.Ile712Thr)	CEP85L (I712T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2424515	NC_000006.11:g.(?_118880085)_(118880243_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2324773	NM_001042475.3(CEP85L):c.67C>T (p.Pro23Ser)	CEP85L, LOC129997071 (P23S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212915	NM_001042475.3(CEP85L):c.20C>T (p.Ala7Val)	CEP85L, LOC129997071 (A7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GBenign
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 (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2136456	NM_002667.5(PLN):c.121T>A (p.Cys41Ser)	CEP85L, PLN (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 (frameshift 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 (frameshift variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1736005	NM_002667.5(PLN):c.38G>A (p.Arg13Lys)	CEP85L, PLN (R13K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1733517	NM_002667.5(PLN):c.114C>G (p.Ile38Met)	CEP85L, PLN (I38M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1733083	NM_002667.5(PLN):c.35T>C (p.Ile12Thr)	CEP85L, PLN (I12T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1733072	NM_002667.5(PLN):c.35dup (p.Arg13fs)	CEP85L, PLN (R13fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1709041	NM_002667.5(PLN):c.63_64del (p.Gln22fs)	CEP85L, PLN (Q22fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 18	GLikely pathogenic
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 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 (frameshift 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)	Dilated cardiomyopathy 1P +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)	CEP85L, PLN (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 (missense 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 1330390	NM_001042475.3(CEP85L):c.1020+17468G>A	CEP85L	Single nucleotide variant (intron variant)	Lissencephaly 10	GLikely benign
Select item 1325611	NM_001178035.2(CEP85L):c.7T>G (p.Trp3Gly)	CEP85L (W3G)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 1320300	NM_001042475.3(CEP85L):c.3G>T (p.Met1Ile)	CEP85L, LOC129997071 (M1I)	Single nucleotide variant (missense variant +2 more)	Lissencephaly	GPathogenic
Select item 1315107	NM_002667.5(PLN):c.151C>T (p.Leu51Phe)	PLN, CEP85L (L51F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283205	NM_002667.5(PLN):c.-97-198AC[18]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1269771	NM_002667.5(PLN):c.-97-206G>T	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260729	NM_002667.5(PLN):c.-97-163G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258553	NM_002667.5(PLN):c.-97-198AC[20]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1252105	NM_002667.5(PLN):c.-97-198AC[15]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1246007	NM_002667.5(PLN):c.-97-198AC[19]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1240427	NM_002667.5(PLN):c.-97-167C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238034	NM_002667.5(PLN):c.-97-159G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236113	NM_002667.5(PLN):c.-97-198AC[21]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1225868	NM_002667.5(PLN):c.-97-161G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223914	NM_002667.5(PLN):c.-97-169C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209728	NM_001042475.3(CEP85L):c.-9T>C	CEP85L, LOC129997071	Single nucleotide variant (5 prime UTR variant +1 more)	Lissencephaly 10	GBenign
Select item 1196240	NM_002667.5(PLN):c.-97-165_-97-160del	CEP85L, PLN	Deletion (intron variant)	not provided	GLikely benign
Select item 1194293	NM_002667.5(PLN):c.-97-293T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180349	NM_002667.5(PLN):c.-97-177_-97-162del	CEP85L, PLN	Deletion (intron variant)	not provided	GBenign
Select item 1180239	NM_002667.5(PLN):c.-97-199_-97-198del	CEP85L, PLN	Deletion (intron variant)	not provided	GLikely benign
Select item 1151456	NM_002667.5(PLN):c.156C>A (p.Leu52=)	CEP85L, PLN	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1P +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 (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1046834	NC_000006.11:g.(?_118879986)_(118880253_?)dup	PLN, CEP85L	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 1029623	NM_002667.5(PLN):c.61C>T (p.Pro21Ser)	CEP85L, PLN (P21S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 18	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 993418	NM_002667.5(PLN):c.-97-9A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 979031	NM_001042475.3(CEP85L):c.1A>T (p.Met1Leu)	CEP85L, LOC129997071 (M1L)	Single nucleotide variant (missense variant +2 more)	Posterior Predominant Lissencephaly	GLikely pathogenic
Select item 949832	NM_002667.5(PLN):c.85C>T (p.Gln29Ter)	CEP85L, PLN (Q29*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 940239	NM_002667.5(PLN):c.26_29dup (p.Ala11fs)	CEP85L, PLN (A11fs)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1P	GPathogenic
Select item 907408	NM_002667.5(PLN):c.*1007T>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 907407	NM_002667.5(PLN):c.*903G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 907406	NM_002667.5(PLN):c.*277A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 906404	NM_002667.5(PLN):c.*152G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 906403	NM_002667.5(PLN):c.*80T>C	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_002667.5(PLN):c.-56C>T	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904852	NM_002667.5(PLN):c.*1322C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 904851	NM_002667.5(PLN):c.*1279G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 904075	NM_002667.5(PLN):c.*1199T>C	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 904074	NM_002667.5(PLN):c.*1098T>C	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 904073	NM_002667.5(PLN):c.*1012A>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 872889	NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)	CEP85L, LOC129997071 (M1T)	Single nucleotide variant (missense variant +2 more)	Lissencephaly 10	GPathogenic
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)	Cardiovascular phenotype +2 more	GLikely benign
Select item 682277	NM_002667.5(PLN):c.-98+15T>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675990	NM_002667.5(PLN):c.-97-105A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675329	NM_002667.5(PLN):c.-97-53T>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 626734	NM_002667.5(PLN):c.148A>C (p.Met50Leu)	CEP85L, PLN (M50L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 626483	NM_002667.5(PLN):c.36A>G (p.Ile12Met)	PLN, CEP85L (I12M)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P +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)	Dilated cardiomyopathy 1P +4 more	GUncertain significance
Select item 563228	GRCh37/hg19 6q22.31(chr6:119015305-119092600)x1	CEP85L	Copy number loss	not provided	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

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