ClinVar for Gene (Select 387119) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373254	NM_001042475.3(CEP85L):c.980A>T (p.Gln327Leu)	CEP85L (Q327L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367976	NM_001042475.3(CEP85L):c.1613dup (p.Asn538fs)	CEP85L (N538fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3367941	NM_001042475.3(CEP85L):c.1437+28G>T	CEP85L (G489C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367051	NM_001042475.3(CEP85L):c.913C>T (p.Arg305Trp)	CEP85L (R305W +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 3365869	NM_001042475.3(CEP85L):c.232+1G>A	CEP85L	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 3351969	NM_001042475.3(CEP85L):c.1785C>T (p.Ile595=)	CEP85L	Single nucleotide variant (synonymous variant)	CEP85L-related disorder	GLikely benign
Select item 3343648	NM_001042475.3(CEP85L):c.364G>A (p.Gly122Ser)	CEP85L (G122S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339988	NM_001042475.3(CEP85L):c.1570G>A (p.Val524Ile)	CEP85L (V524I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336356	NM_001042475.3(CEP85L):c.939T>A (p.Asn313Lys)	CEP85L (N313K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336147	NC_000006.11:g.(?_118781934)_(118972755_?)dup	CEP85L, PLN	Duplication	not specified	GUncertain significance
Select item 3266283	NM_001042475.3(CEP85L):c.491C>A (p.Ala164Asp)	CEP85L (A164D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266282	NM_001042475.3(CEP85L):c.1160A>G (p.His387Arg)	CEP85L (H387R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3266281	NM_001042475.3(CEP85L):c.1294T>G (p.Ser432Ala)	CEP85L (S432A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3143078	NM_001042475.3(CEP85L):c.838C>G (p.Leu280Val)	CEP85L (L280V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143077	NM_001042475.3(CEP85L):c.654A>G (p.Ile218Met)	CEP85L (I218M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3143075	NM_001042475.3(CEP85L):c.1421A>G (p.Lys474Arg)	CEP85L (K477R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143074	NM_001042475.3(CEP85L):c.131C>G (p.Thr44Ser)	CEP85L (T44S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143073	NM_001042475.3(CEP85L):c.1192C>T (p.Arg398Trp)	CEP85L (R398W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3143072	NM_001042475.3(CEP85L):c.1039C>T (p.Arg347Cys)	CEP85L (R347C +1 more)	Single nucleotide variant (missense variant)	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 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 3060866	NM_001042475.3(CEP85L):c.1437+64_1437+67del	CEP85L	Microsatellite (3 prime UTR variant +1 more)	CEP85L-related disorder	GLikely benign
Select item 3051106	NM_001042475.3(CEP85L):c.1306G>A (p.Val436Ile)	CEP85L (V436I +1 more)	Single nucleotide variant (missense variant)	CEP85L-related disorder	GLikely benign
Select item 3029509	NM_001042475.3(CEP85L):c.492C>A (p.Ala164=)	CEP85L	Single nucleotide variant (synonymous variant)	CEP85L-related disorder	GLikely benign
Select item 3027447	NM_001178035.2(CEP85L):c.57_60del (p.Ser20fs)	CEP85L (S20fs)	Deletion (frameshift variant)	Lissencephaly 10	GLikely pathogenic
Select item 3026135	NM_001042475.3(CEP85L):c.837G>A (p.Met279Ile)	CEP85L (M279I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3026134	NM_001042475.3(CEP85L):c.1680A>G (p.Gln560=)	CEP85L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	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 2671640	NM_001042475.3(CEP85L):c.1262A>C (p.Gln421Pro)	CEP85L (Q421P +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2664222	NM_001042475.3(CEP85L):c.1994T>C (p.Val665Ala)	CEP85L (V665A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2662008	NM_001042475.3(CEP85L):c.1489G>T (p.Glu497Ter)	CEP85L (E497* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2656887	NM_001042475.3(CEP85L):c.879C>T (p.Ser293=)	CEP85L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656886	NM_001042475.3(CEP85L):c.895T>C (p.Trp299Arg)	CEP85L (W299R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656885	NM_001042475.3(CEP85L):c.984T>A (p.Ile328=)	CEP85L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656884	NM_001042475.3(CEP85L):c.1395A>G (p.Arg465=)	CEP85L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656883	NM_001042475.3(CEP85L):c.1877A>G (p.Gln626Arg)	CEP85L (Q626R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656882	NM_001042475.3(CEP85L):c.1961T>C (p.Met654Thr)	CEP85L (M654T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2632499	NM_001042475.3(CEP85L):c.1047T>G (p.Ser349Arg)	CEP85L (S349R +1 more)	Single nucleotide variant (missense variant)	CEP85L-related disorder	GUncertain significance
Select item 2629138	NM_001042475.3(CEP85L):c.1661A>C (p.Glu554Ala)	CEP85L (E554A +1 more)	Single nucleotide variant (missense variant)	CEP85L-related disorder	GUncertain significance
Select item 2607892	NM_001042475.3(CEP85L):c.998A>C (p.Gln333Pro)	CEP85L (Q336P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607595	NM_001042475.3(CEP85L):c.941C>A (p.Thr314Lys)	CEP85L (T314K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2577620	NM_001042475.3(CEP85L):c.1914+1G>T	CEP85L	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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)	CEP85L, PLN (M50fs)	Indel (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2550795	NM_001042475.3(CEP85L):c.361G>T (p.Asp121Tyr)	CEP85L (D121Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540801	NM_001042475.3(CEP85L):c.1115G>A (p.Arg372Lys)	CEP85L (R375K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520283	NM_001042475.3(CEP85L):c.614A>G (p.His205Arg)	CEP85L (H205R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2501617	NM_001042475.3(CEP85L):c.418del (p.Glu140fs)	CEP85L (E140fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2499762	NM_001042475.3(CEP85L):c.1568A>G (p.Asp523Gly)	CEP85L (D523G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481413	NM_001042475.3(CEP85L):c.1193G>A (p.Arg398Gln)	CEP85L (R401Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471943	NM_001042475.3(CEP85L):c.248G>T (p.Ser83Ile)	CEP85L (S83I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464214	NM_001042475.3(CEP85L):c.377G>C (p.Ser126Thr)	CEP85L (S129T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2430561	NM_001042475.3(CEP85L):c.455C>A (p.Pro152Gln)	CEP85L (P152Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430525	NM_001042475.3(CEP85L):c.943G>C (p.Glu315Gln)	CEP85L (E315Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429536	NM_001042475.3(CEP85L):c.148C>T (p.Arg50Ter)	CEP85L (R50* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2424515	NC_000006.11:g.(?_118880085)_(118880243_?)dup	CEP85L, PLN	Duplication	Dilated cardiomyopathy 1P	GUncertain significance
Select item 2412193	NM_001042475.3(CEP85L):c.226G>A (p.Val76Met)	CEP85L (V76M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395238	NM_001042475.3(CEP85L):c.2347A>G (p.Ile783Val)	CEP85L (I786V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2386485	NM_001042475.3(CEP85L):c.793A>G (p.Ile265Val)	CEP85L (I265V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366773	NM_001042475.3(CEP85L):c.1015A>G (p.Met339Val)	CEP85L (M342V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361940	NM_001042475.3(CEP85L):c.995G>A (p.Arg332Gln)	CEP85L (R332Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2349816	NM_001042475.3(CEP85L):c.769A>G (p.Ser257Gly)	CEP85L (S260G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336702	NM_001042475.3(CEP85L):c.784A>G (p.Ser262Gly)	CEP85L (S262G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332243	NM_001042475.3(CEP85L):c.689A>G (p.Tyr230Cys)	CEP85L (Y230C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2312619	NM_001042475.3(CEP85L):c.659A>C (p.Lys220Thr)	CEP85L (K220T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2286364	NM_001042475.3(CEP85L):c.670T>C (p.Ser224Pro)	CEP85L (S224P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265288	NM_001042475.3(CEP85L):c.425A>T (p.Asp142Val)	CEP85L (D142V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257186	NM_001042475.3(CEP85L):c.197C>T (p.Thr66Ile)	CEP85L (T66I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230580	NM_001042475.3(CEP85L):c.723A>C (p.Arg241Ser)	CEP85L (R244S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2230578	NM_001042475.3(CEP85L):c.556A>G (p.Ile186Val)	CEP85L (I186V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2221035	NM_001042475.3(CEP85L):c.1708A>G (p.Lys570Glu)	CEP85L (K573E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218023	NM_001042475.3(CEP85L):c.1163T>A (p.Leu388Gln)	CEP85L (L388Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217982	NM_001042475.3(CEP85L):c.325G>A (p.Ala109Thr)	CEP85L (A112T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2215970	NM_001042475.3(CEP85L):c.880G>A (p.Val294Ile)	CEP85L (V294I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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