ClinVar for Gene (Select 91687) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3248010	NC_000001.10:g.(?_171604992)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1321913	NC_000001.11:g.173787361_174223422del	CENPL, DARS2 +39 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	KLHL20, LOC129388638 +84 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 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CENPL +79 more	Deletion	Hereditary antithrombin deficiency	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 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 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 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 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 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 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
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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	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 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 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 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	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 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	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 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 68