"GeneDx"[submitter] AND "CEP85L"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 59528	GRCh38/hg38 6q22.31(chr6:118229864-118723034)x3	CEP85L, LOC110121273 +10 more	Copy number gain	See cases	GUncertain significance
Select item 59529	GRCh38/hg38 6q22.31(chr6:118390687-118736132)x3	CEP85L, LOC110121273 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1319032	NM_001042475.3(CEP85L):c.2381A>G (p.Tyr794Cys)	CEP85L (Y794C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577620	NM_001042475.3(CEP85L):c.1914+1G>T	CEP85L	Single nucleotide variant (splice donor 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 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 2662008	NM_001042475.3(CEP85L):c.1489G>T (p.Glu497Ter)	CEP85L (E497* +1 more)	Single nucleotide variant (nonsense)	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 59530	GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3	ASF1A, CEP85L +32 more	Copy number gain	See cases	GUncertain significance
Select item 1704725	NM_001042475.3(CEP85L):c.1135G>A (p.Asp379Asn)	CEP85L (D379N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 403328	NM_001042475.3(CEP85L):c.1020+17269T>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 355133	NM_002667.5(PLN):c.-150G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GBenign/Likely 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 384450	NM_002667.5(PLN):c.-98+17G>A	CEP85L, PLN	Single nucleotide variant (intron variant)	not specified	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 1269771	NM_002667.5(PLN):c.-97-206G>T	CEP85L, PLN	Single nucleotide variant (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 1283205	NM_002667.5(PLN):c.-97-198AC[18]	CEP85L, PLN	Microsatellite (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 1246007	NM_002667.5(PLN):c.-97-198AC[19]	CEP85L, PLN	Microsatellite (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 1252105	NM_002667.5(PLN):c.-97-198AC[15]	CEP85L, PLN	Microsatellite (intron variant)	not provided	GBenign
Select item 1180349	NM_002667.5(PLN):c.-97-177_-97-162del	CEP85L, PLN	Deletion (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 1240427	NM_002667.5(PLN):c.-97-167C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196240	NM_002667.5(PLN):c.-97-165_-97-160del	CEP85L, PLN	Deletion (intron variant)	not provided	GLikely benign
Select item 1260729	NM_002667.5(PLN):c.-97-163G>C	CEP85L, PLN	Single nucleotide variant (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 1238034	NM_002667.5(PLN):c.-97-159G>C	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided	GBenign
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 355136	NM_002667.5(PLN):c.-97-5T>C	PLN, CEP85L	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	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 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 384083	NM_002667.5(PLN):c.-40C>T	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384911	NM_002667.5(PLN):c.-14G>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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
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 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 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 234806	NM_002667.5(PLN):c.34A>G (p.Ile12Val)	CEP85L, PLN (I12V)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	not provided +2 more	GUncertain significance
Select item 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_indel +2 more)	SUDDEN INFANT DEATH SYNDROME +6 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 202040	NM_002667.5(PLN):c.73C>T (p.Arg25Cys)	CEP85L, PLN (R25C)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 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 13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	CEP85L, PLN (L39*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1P +7 more	GPathogenic/Likely pathogenic
Select item 464268	NM_002667.5(PLN):c.132_152dup (p.Leu51_Leu52insIleCysIleIleValMetLeu)	PLN, CEP85L	Duplication (inframe_indel +2 more)	not provided +1 more	GUncertain significance
Select item 423174	NM_002667.5(PLN):c.143_158delinsGC (p.Ile48fs)	CEP85L, PLN (I48fs)	Indel (frameshift variant +1 more)	not provided	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 202036	NM_002667.5(PLN):c.145G>A (p.Val49Met)	CEP85L, PLN (V49M)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 18 +4 more	GUncertain significance
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 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 379747	NM_002667.5(PLN):c.*17C>G	PLN, CEP85L	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
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 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 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 2501617	NM_001042475.3(CEP85L):c.418del (p.Glu140fs)	CEP85L (E140fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 1723546	NM_001042475.3(CEP85L):c.316A>G (p.Asn106Asp)	CEP85L (N106D +1 more)	Single nucleotide variant (missense variant)	not provided	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 2429536	NM_001042475.3(CEP85L):c.148C>T (p.Arg50Ter)	CEP85L (R50* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 254000	GRCh37/hg19 6q22.31(chr6:118787404-119016296)x4	PLN, CEP85L	Copy number gain	See cases	GUncertain significance
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

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Items: 66