ClinVar for Gene (Select 5350) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062917	GRCh37/hg19 6q22.31(chr6:118786589-119039118)x1	CEP85L, PLN	Copy number loss	not specified	GPathogenic
Select item 3062916	GRCh37/hg19 6q22.31(chr6:118757606-119022293)x3	CEP85L, PLN	Copy number gain	not specified	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024638	GRCh37/hg19 6q22.31(chr6:118757596-119007476)x3	CEP85L, PLN	Copy number gain	not provided	GUncertain significance
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 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 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
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)	PLN, CEP85L (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 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	TRAPPC3L, TSPYL4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
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 1807645	GRCh37/hg19 6q22.31(chr6:118621039-119065365)x3	CEP85L, PLN +1 more	Copy number gain	not provided	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 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)	Cardiovascular phenotype +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 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1684559	GRCh37/hg19 6q22.1-22.31(chr6:117951874-119112156)x1	CEP85L, NUS1 +2 more	Copy number loss	See cases	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 1527283	GRCh37/hg19 6q22.2-22.31(chr6:118490533-119281981)	ASF1A, CEP85L +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
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 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1315107	NM_002667.5(PLN):c.151C>T (p.Leu51Phe)	CEP85L, PLN (L51F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1283205	NM_001042475.3(CEP85L):c.1020+6869GT[18]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1269771	NM_001042475.3(CEP85L):c.1020+6910C>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260729	NM_001042475.3(CEP85L):c.1020+6867C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258553	NM_001042475.3(CEP85L):c.1020+6869GT[20]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1252105	NM_001042475.3(CEP85L):c.1020+6869GT[15]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1246007	NM_001042475.3(CEP85L):c.1020+6869GT[19]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1240427	NM_001042475.3(CEP85L):c.1020+6871G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238034	NM_001042475.3(CEP85L):c.1020+6863C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236113	NM_001042475.3(CEP85L):c.1020+6869GT[21]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1225868	NM_001042475.3(CEP85L):c.1020+6865C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223914	NM_001042475.3(CEP85L):c.1020+6873G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196240	NM_001042475.3(CEP85L):c.1020+6865_1020+6870del	CEP85L, PLN	Deletion (intron variant)	not provided	GLikely benign
Select item 1194293	NM_001042475.3(CEP85L):c.1020+6997A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180349	NM_001042475.3(CEP85L):c.1020+6867_1020+6882del	CEP85L, PLN	Deletion (intron variant)	not provided	GBenign
Select item 1180239	NM_001042475.3(CEP85L):c.1020+6903_1020+6904del	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)	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 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 1013760	NM_001042475.3(CEP85L):c.1020+17353T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 993418	NM_001042475.3(CEP85L):c.1020+6713T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 980781	GRCh37/hg19 6q22.31(chr6:118871813-119007889)x1	CEP85L, PLN	Copy number loss	not provided	GPathogenic
Select item 980780	GRCh37/hg19 6q22.31(chr6:118842806-119061150)x3	CEP85L, PLN	Copy number gain	not provided	GLikely benign
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
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 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 685718	GRCh37/hg19 6q22.31(chr6:118791787-119082978)x3	CEP85L, PLN	Copy number gain	not provided	GUncertain significance
Select item 682277	NM_001042475.3(CEP85L):c.1020+17122A>T	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675990	NM_001042475.3(CEP85L):c.1020+6809T>C	PLN, CEP85L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675329	NM_001042475.3(CEP85L):c.1020+6757A>T	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	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

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