CENPN[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 57099	GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1	ARLNC1, ATMIN +59 more	Copy number loss	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 60058	GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3	ATMIN, BCO1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 3142404	NM_001100624.3(CENPN):c.54G>A (p.Met18Ile)	CENPN (M18I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356010	NM_001100624.3(CENPN):c.125G>A (p.Arg42Gln)	CENPN (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455692	NM_001100624.3(CENPN):c.136G>C (p.Glu46Gln)	CENPN (E46Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343537	NM_001100624.3(CENPN):c.178C>T (p.Arg60Cys)	CENPN (R60C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265935	NM_001100624.3(CENPN):c.182C>G (p.Ala61Gly)	CENPN (A61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 153084	GRCh38/hg38 16q23.2(chr16:81017312-81042801)x3	ATMIN, CENPN +2 more	Copy number gain	See cases	GBenign
Select item 3142400	NM_001100624.3(CENPN):c.221T>C (p.Met74Thr)	CENPN (M74T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2310835	NM_001100624.3(CENPN):c.225A>C (p.Gln75His)	CENPN (Q75H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142401	NM_001100624.3(CENPN):c.235C>T (p.His79Tyr)	CENPN (H79Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408549	NM_001100624.3(CENPN):c.302T>G (p.Met101Arg)	CENPN (M81R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142402	NM_001100624.3(CENPN):c.359C>A (p.Thr120Lys)	CENPN (T120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256410	NM_001100624.3(CENPN):c.422A>T (p.Tyr141Phe)	CENPN (Y141F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301922	NM_001100624.3(CENPN):c.460T>C (p.Tyr154His)	CENPN (Y134H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252782	NM_001100624.3(CENPN):c.464A>G (p.Tyr155Cys)	CENPN (Y155C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286096	NM_001100624.3(CENPN):c.488C>T (p.Thr163Met)	CENPN (T143M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471223	NM_001100624.3(CENPN):c.518C>T (p.Pro173Leu)	CENPN (P173L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324119	NM_001100624.3(CENPN):c.550A>C (p.Lys184Gln)	CENPN (K164Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237943	NM_001100624.3(CENPN):c.597C>G (p.Asp199Glu)	CENPN (D179E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206060	NM_001100624.3(CENPN):c.610A>G (p.Ile204Val)	CENPN (I184V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265937	NM_001100624.3(CENPN):c.614T>C (p.Val205Ala)	CENPN (V185A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142405	NM_001100624.3(CENPN):c.619A>C (p.Lys207Gln)	CENPN (K187Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360221	NM_001100624.3(CENPN):c.656C>T (p.Thr219Met)	CENPN (T219M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142406	NM_001100624.3(CENPN):c.661C>T (p.Pro221Ser)	CENPN (P187S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304654	NM_001100624.3(CENPN):c.667C>A (p.Gln223Lys)	CENPN (Q189K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142407	NM_001100624.3(CENPN):c.751A>G (p.Ile251Val)	CENPN (I217V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589825	NM_001100624.3(CENPN):c.757C>G (p.Gln253Glu)	CENPN (Q233E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142408	NM_001100624.3(CENPN):c.778C>G (p.Pro260Ala)	CENPN (P260A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142409	NM_001100624.3(CENPN):c.818C>T (p.Thr273Met)	CENPN (T253M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142410	NM_001100624.3(CENPN):c.884T>C (p.Ile295Thr)	CENPN (I275T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558584	NM_001100624.3(CENPN):c.935C>T (p.Ala312Val)	CENPN (A292V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3063447	GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685579	GRCh37/hg19 16q23.2(chr16:81002550-81217672)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685578	GRCh37/hg19 16q23.2(chr16:80905025-81177989)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684821	GRCh37/hg19 16q23.2(chr16:80891387-81346417)x3	ATMIN, BCO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1809201	GRCh37/hg19 16q23.2(chr16:80896302-81152918)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808157	GRCh37/hg19 16q23.2(chr16:80975918-81049683)x1	CENPN, CMC2	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526531	GRCh37/hg19 16q23.2(chr16:80976347-81647826)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526530	GRCh37/hg19 16q23.2(chr16:80896301-81140605)	ATMIN, C16orf46 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1526528	GRCh37/hg19 16q23.2(chr16:80228506-81280700)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526526	GRCh37/hg19 16q23.1-23.2(chr16:77960664-81429258)	ATMIN, BCO1 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1340001	GRCh37/hg19 16q23.2(chr16:80896301-81149333)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979478	GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1	ATMIN, BCO1 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815850	GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1	CDYL2, CENPN +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 815849	GRCh37/hg19 16q23.1-23.2(chr16:78426151-81049683)x3	CDYL2, CENPN +4 more	Copy number gain	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 687435	GRCh37/hg19 16q23.2(chr16:80892482-81147086)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685877	GRCh37/hg19 16q23.2(chr16:80892672-81133120)x1	ATMIN, C16orf46 +3 more	Copy number loss	not provided	GUncertain significance
Select item 584186	NC_000016.9:g.(?_80623263)_(81411221_?)del	PKD1L2, CENPN +7 more	Deletion	Giant axonal neuropathy 1	GPathogenic
Select item 564358	GRCh37/hg19 16q23.2(chr16:80959318-81157385)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564357	GRCh37/hg19 16q23.2(chr16:80880360-81100758)x3	CMC2, ATMIN +2 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560156	Single allele	ATMIN, C16orf46 +6 more	Duplication	not provided	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441840	GRCh37/hg19 16q23.2(chr16:80896301-81140605)x1	ATMIN, C16orf46 +4 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395166	GRCh37/hg19 16q23.2(chr16:81015377-81124272)x1	ATMIN, C16orf46 +3 more	Copy number loss	See cases	GLikely benign
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 96