CEP112[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 781327	NM_001199165.4(CEP112):c.2811G>T (p.Leu937=)	CEP112	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3142482	NM_001199165.4(CEP112):c.2801T>C (p.Val934Ala)	CEP112 (V892A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335431	NM_001199165.4(CEP112):c.2756T>C (p.Leu919Pro)	CEP112 (L919P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337313	NM_001199165.4(CEP112):c.2734A>G (p.Lys912Glu)	CEP112 (K913E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265973	NM_001199165.4(CEP112):c.2720A>G (p.Tyr907Cys)	CEP112 (Y865C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142481	NM_001199165.4(CEP112):c.2707A>G (p.Ile903Val)	CEP112 (I861V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385238	NM_001199165.4(CEP112):c.2684A>C (p.Glu895Ala)	CEP112 (E151A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265972	NM_001199165.4(CEP112):c.2677G>C (p.Glu893Gln)	CEP112 (E894Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142479	NM_001199165.4(CEP112):c.2673C>A (p.His891Gln)	CEP112 (H147Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142478	NM_001199165.4(CEP112):c.2665T>A (p.Leu889Ile)	CEP112 (L847I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142477	NM_001199165.4(CEP112):c.2656G>C (p.Glu886Gln)	CEP112 (E844Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538959	NM_001199165.4(CEP112):c.2648G>T (p.Arg883Leu)	CEP112 (R139L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377462	NM_001199165.4(CEP112):c.2620G>A (p.Glu874Lys)	CEP112 (E874K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155135	GRCh38/hg38 17q24.1(chr17:65722873-65967070)x1	CEP112, LOC126862619	Copy number loss	See cases	GUncertain significance
Select item 3142476	NM_001199165.4(CEP112):c.2578C>A (p.Leu860Met)	CEP112 (L818M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372302	NM_001199165.4(CEP112):c.2552A>G (p.Gln851Arg)	CEP112 (Q107R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648108	NM_001199165.4(CEP112):c.2406G>A (p.Lys802=)	CEP112	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142475	NM_001199165.4(CEP112):c.2389G>A (p.Glu797Lys)	CEP112 (E797K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482789	NM_001199165.4(CEP112):c.2330C>T (p.Ser777Leu)	CEP112 (S735L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142474	NM_001199165.4(CEP112):c.2218G>C (p.Val740Leu)	CEP112 (V741L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494117	NM_001199165.4(CEP112):c.2218G>A (p.Val740Met)	CEP112 (V741M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318832	NM_001199165.4(CEP112):c.2176A>G (p.Met726Val)	CEP112 (M727V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510698	NM_001199165.4(CEP112):c.2173G>A (p.Asp725Asn)	CEP112 (D725N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648109	NM_001199165.4(CEP112):c.2164-3A>T	CEP112	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 981491	NM_001199165.4(CEP112):c.2104C>T (p.Arg702Cys)	CEP112 (R702C +2 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 44	GPathogenic
Select item 981490	NM_001199165.4(CEP112):c.2074C>T (p.Arg692Trp)	CEP112 (R692W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049214	NM_001199165.4(CEP112):c.1985T>C (p.Val662Ala)	CEP112 (V620A +2 more)	Single nucleotide variant (missense variant)	CEP112-related disorder	GLikely benign
Select item 2244752	NM_001199165.4(CEP112):c.1848A>C (p.Lys616Asn)	CEP112 (K616N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516535	NM_001199165.4(CEP112):c.1804G>A (p.Ala602Thr)	CEP112 (A560T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456621	NM_001199165.4(CEP112):c.1790A>C (p.Gln597Pro)	CEP112 (Q555P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265968	NM_001199165.4(CEP112):c.1727A>G (p.Glu576Gly)	CEP112 (E576G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214396	NM_001199165.4(CEP112):c.1707G>T (p.Lys569Asn)	CEP112 (K569N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519026	NM_001199165.4(CEP112):c.1682A>T (p.Asp561Val)	CEP112 (D561V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593850	NM_001199165.4(CEP112):c.1583A>G (p.Lys528Arg)	CEP112 (K486R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492355	NM_001199165.4(CEP112):c.1511G>C (p.Ser504Thr)	CEP112 (S462T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648110	NM_001199165.4(CEP112):c.1451A>G (p.Tyr484Cys)	CEP112 (Y442C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648111	NM_001199165.4(CEP112):c.1446C>A (p.Thr482=)	CEP112	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283981	NM_001199165.4(CEP112):c.1420G>C (p.Glu474Gln)	CEP112 (E432Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265971	NM_001199165.4(CEP112):c.1408G>A (p.Val470Ile)	CEP112 (V470I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2222763	NM_001199165.4(CEP112):c.1399G>A (p.Asp467Asn)	CEP112 (D467N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604996	NM_001199165.4(CEP112):c.1376G>A (p.Arg459His)	CEP112 (R417H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297076	NM_001199165.4(CEP112):c.1346G>A (p.Cys449Tyr)	CEP112 (C407Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336243	NM_001199165.4(CEP112):c.1289A>G (p.Gln430Arg)	CEP112 (Q388R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237612	NM_001199165.4(CEP112):c.1247G>A (p.Arg416His)	CEP112 (R374H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245668	NM_001199165.4(CEP112):c.1202C>G (p.Ala401Gly)	CEP112 (A402G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142471	NM_001199165.4(CEP112):c.1172G>A (p.Arg391His)	CEP112 (R349H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142470	NM_001199165.4(CEP112):c.1135G>A (p.Glu379Lys)	CEP112 (E380K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257653	NM_001199165.4(CEP112):c.1126C>A (p.Gln376Lys)	CEP112 (Q376K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648112	NM_001199165.4(CEP112):c.1091C>G (p.Ala364Gly)	CEP112 (A322G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598394	NM_001199165.4(CEP112):c.1037A>G (p.Gln346Arg)	CEP112 (Q346R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599041	NM_001199165.4(CEP112):c.1009A>G (p.Ile337Val)	CEP112 (I337V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569042	NM_001199165.4(CEP112):c.970C>T (p.Arg324Cys)	CEP112 (R324C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265970	NM_001199165.4(CEP112):c.960G>T (p.Gln320His)	CEP112 (Q321H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265964	NM_001199165.4(CEP112):c.882A>G (p.Ile294Met)	CEP112 (I252M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265969	NM_001199165.4(CEP112):c.757C>T (p.Arg253Cys)	CEP112 (R253C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341054	NM_001199165.4(CEP112):c.755T>A (p.Ile252Lys)	CEP112 (I253K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302373	NM_001199165.4(CEP112):c.735T>G (p.Asp245Glu)	CEP112 (D245E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616250	NM_001199165.4(CEP112):c.716A>G (p.Lys239Arg)	CEP112 (K239R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270199	NM_001199165.4(CEP112):c.577A>G (p.Lys193Glu)	CEP112 (K193E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265965	NM_001199165.4(CEP112):c.565G>A (p.Glu189Lys)	CEP112 (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981489	NM_001199165.4(CEP112):c.496C>T (p.Arg166Ter)	CEP112 (R166*)	Single nucleotide variant (nonsense)	Spermatogenic failure 44	GPathogenic
Select item 3142485	NM_001199165.4(CEP112):c.455C>T (p.Pro152Leu)	CEP112 (P152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142484	NM_001199165.4(CEP112):c.452C>T (p.Ser151Leu)	CEP112 (S151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142483	NM_001199165.4(CEP112):c.443T>C (p.Leu148Ser)	CEP112 (L148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334407	NM_001199165.4(CEP112):c.439A>G (p.Thr147Ala)	CEP112 (T147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592847	NM_001199165.4(CEP112):c.416A>G (p.Lys139Arg)	CEP112 (K139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595704	NM_001199165.4(CEP112):c.280A>G (p.Ile94Val)	CEP112 (I94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228632	NM_001199165.4(CEP112):c.268G>A (p.Gly90Arg)	CEP112 (G90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265966	NM_001199165.4(CEP112):c.245C>T (p.Pro82Leu)	CEP112 (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599961	NM_001199165.4(CEP112):c.233C>A (p.Ala78Glu)	CEP112 (A78E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384846	NM_001199165.4(CEP112):c.233C>T (p.Ala78Val)	CEP112 (A78V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142473	NM_001199165.4(CEP112):c.175G>A (p.Gly59Arg)	CEP112 (G59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265974	NM_001199165.4(CEP112):c.124C>T (p.Leu42Phe)	CEP112 (L42F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340260	NM_001199165.4(CEP112):c.124C>G (p.Leu42Val)	CEP112 (L42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516432	NM_001199165.4(CEP112):c.109C>T (p.Arg37Trp)	CEP112 (R37W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281101	NM_001199165.4(CEP112):c.82G>T (p.Val28Phe)	CEP112 (V28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142486	NM_001199165.4(CEP112):c.64G>A (p.Val22Ile)	CEP112 (V22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526583	GRCh37/hg19 17q24.1-24.2(chr17:63764889-64931712)	APOH, CACNG5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1341096	GRCh37/hg19 17q24.1(chr17:63866094-64015506)x1	CEP112	Copy number loss	not provided	GLikely benign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 638095	GRCh37/hg19 17q24.1-24.2(chr17:64094511-64805553)x3	APOH, CEP112 +1 more	Copy number gain	See cases	GUncertain significance
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 564462	GRCh37/hg19 17q24.1-24.2(chr17:63623939-64633308)x3	APOH, PRKCA +1 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 93