CENPL[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	KLHL20, LOC129388638 +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CENPL +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321913	NC_000001.11:g.173787361_174223422del	CENPL, DARS2 +39 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 2302925	NM_001387287.1(CENPL):c.1018A>G (p.Ile340Val)	CENPL (I318V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2616275	NM_001387287.1(CENPL):c.982C>G (p.Leu328Val)	CENPL (L328V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473584	NM_001387287.1(CENPL):c.841G>A (p.Asp281Asn)	CENPL (D259N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355056	NM_001387287.1(CENPL):c.766A>G (p.Ile256Val)	CENPL (I256V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542230	NM_001387287.1(CENPL):c.724T>A (p.Ser242Thr)	CENPL (S288T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142395	NM_001387287.1(CENPL):c.631T>G (p.Leu211Val)	CENPL (L257V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278928	NM_001387287.1(CENPL):c.604A>G (p.Lys202Glu)	CENPL (K248E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142394	NM_001387287.1(CENPL):c.561T>G (p.Asn187Lys)	CENPL (N165K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142393	NM_001387287.1(CENPL):c.493G>A (p.Val165Ile)	CENPL (V211I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3265932	NM_001387287.1(CENPL):c.425T>C (p.Val142Ala)	CENPL (V120A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606322	NM_001387287.1(CENPL):c.380T>C (p.Met127Thr)	CENPL (M127T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3265933	NM_001387287.1(CENPL):c.353A>G (p.Lys118Arg)	CENPL (K118R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553206	NM_001387287.1(CENPL):c.323C>T (p.Ala108Val)	CENPL (A108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232577	NM_001387287.1(CENPL):c.295A>G (p.Ile99Val)	CENPL (I99V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142392	NM_001387287.1(CENPL):c.260A>G (p.Asn87Ser)	CENPL (N87S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142391	NM_001387287.1(CENPL):c.209A>G (p.Lys70Arg)	CENPL (K70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378727	NM_001387287.1(CENPL):c.199C>T (p.Leu67Phe)	CENPL (L67F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228521	NM_001387287.1(CENPL):c.149C>T (p.Pro50Leu)	CENPL (P50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273355	NM_001387287.1(CENPL):c.74C>T (p.Thr25Ile)	CENPL (T25I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340797	NM_001387287.1(CENPL):c.52G>A (p.Glu18Lys)	CENPL (E18K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2329326	NM_001387287.1(CENPL):c.50C>G (p.Pro17Arg)	CENPL (P17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142390	NM_001387287.1(CENPL):c.17C>T (p.Ala6Val)	CENPL (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 874571	NM_018122.5(DARS2):c.-543C>T	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 293811	NM_018122.5(DARS2):c.-533G>A	DARS2, CENPL	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 293812	NM_018122.5(DARS2):c.-522G>C	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 874572	NM_018122.5(DARS2):c.-488G>C	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 3248010	NC_000001.10:g.(?_171604992)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	not provided	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062855	GRCh37/hg19 1q25.1(chr1:173701568-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527415	GRCh37/hg19 1q25.1(chr1:173750496-174538509)	DARS2, GAS5 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	GAS5, KLHL20 +22 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814141	GRCh37/hg19 1q25.1(chr1:173705375-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 635908	Single allele	GAS5, RC3H1 +8 more	Deletion	Growth abnormality	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 394362	GRCh37/hg19 1q25.1(chr1:173685197-173807287)x1	CENPL, DARS2 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 221783	GRCh37/hg19 1q25.1(chr1:173697478-174010664)x3	CENPL, DARS2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 68