MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Chromosome Disorders (D025063)
..Starting node
..expand
Mosaic variegated aneuploidy syndrome (C536987)

       Child Nodes:



 Sister Nodes: 
..expand10p Deletion Syndrome (Partial) (C538288)
..expand13q deletion syndrome (C535484) Child1
..expand15q24 Microdeletion (C579849)
..expand16p11.2 Deletion Syndrome (C579850)
..expand22q11 Deletion Syndrome (D058165) Child5
..expand6q+ Syndrome, Partial (C537810)
..expand7p2 monosomy syndrome (C537818)
..expand9q22.3 Microdeletion (C579873)
..expandAngelman Syndrome (D017204) Child1
..expandBeckwith-Wiedemann Syndrome (D001506) Child1
..expandBranchio-Oto-Renal Syndrome (D019280) Child5
..expandChromosome 10q duplication syndrome (C537804)
..expandChromosome 13q-mosaicism (C535486)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandChromosome 17p13.3 Duplication Syndrome (C567705)
..expandChromosome 18 deletion syndrome (C536580)
..expandChromosome 18p deletion syndrome (C538309)
..expandChromosome 19q13.11 Deletion Syndrome (C567810)
..expandChromosome 1p36 Deletion Syndrome (C535362)
..expandChromosome 22, monosome mosaic (C536798)
..expandChromosome 3 duplication syndrome (C536803)
..expandChromosome 3q29 Duplication Syndrome (C567626)
..expandChromosome 4, 4q Terminal Deletion Syndrome (C537641)
..expandChromosome 4q- Syndrome (C537639)
..expandChromosome 5p13 Duplication Syndrome (C567717)
..expandChromosome 6 ring syndrome (C537763)
..expandChromosome 7 ring syndrome (C537813)
..expandChromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..expandContiguous Abcd1-Dxs1375e Deletion Syndrome (C564508)
..expandCri-du-Chat Syndrome (D003410) Child6
..expandDe Lange Syndrome (D003635) Child1
..expandDelayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..expandDeletion 13q syndrome, partial (C535449)
..expandDistal Trisomy 10q Syndrome (C538087)
..expandDown Syndrome (D004314) Child6
..expandDuplication 4p Syndrome (C537643)
..expandEdinburgh Malformation Syndrome (C563051)
..expandEmanuel syndrome (C535733)
..expandFragile Site 16p12 (C565001)
..expandHoloprosencephaly (D016142) Child22
..expandIsodicentric Chromosome 15 Syndrome (C580205)
..expandJacobsen Distal 11q Deletion Syndrome (D054868) Child1
..expandMental Retardation, Fra12a Type (C566980)
..expandMonosomy 7 of Bone Marrow (C565370)
..expandMosaic variegated aneuploidy syndrome (C536987)
..expandNF1 Microduplication Syndrome (C567173)
..expandOtodental Dysplasia (C563482)
..expandPallister Killian syndrome (C538105)
..expandPartial Duplication 15q Syndrome (C538036)
..expandPartial Trisomy 3q Syndrome (C537635)
..expandPotocki-Lupski syndrome (C538355)
..expandPotocki-Shaffer syndrome (C538356)
..expandPrader-Willi Syndrome (D011218) Child2
..expandRecombinant chromosome 8 syndrome (C535296)
..expandRing chromosome 4 syndrome (C537636)
..expandRubinstein-Taybi Syndrome (D012415) Child2
..expandSchmid-Fraccaro syndrome (C535918)
..expandSex Chromosome Disorders (D025064) Child32
..expandSilver-Russell Syndrome (D056730) Child1
..expandSmith-Magenis Syndrome (D058496) Child1
..expandSotos Syndrome (D058495) Child1
..expandTelomeric 22q13 Monosomy Syndrome (C536801)
..expandThrombocytopenia chromosome breakage (C536519)
..expandTrisomy 13 Syndrome (D000073839)
..expandTrisomy 18 Syndrome (D000073842)
..expandTrisomy 18-Like Syndrome (C563382)
..expandTrisomy 22 mosaicism syndrome (C536796)
..expandWAGR Syndrome (D017624) Child2
..expandWarburton Anyane Yeboa syndrome (C536682)
..expandWilliams Syndrome (D018980) Child1
..expandWolf-Hirschhorn Syndrome (D054877)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8180
Name:Mosaic variegated aneuploidy syndrome
Definition:
Alternative IDs:OMIM:257300|OMIM:614114
ParentIDs:MESH:D025063
TreeNumbers:C16.131.260/C536987 |C16.320.180/C536987
Synonyms:Chromosomal mosaicism due to mitotic instability |Instability mitotic non disjunction syndrome |Mosaic variegated aneuploidy syndrome 1 |MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 |MVA1 |MVA2 |MVA Syndrome
Slim Mappings:Congenital abnormality|Genetic disease (inborn)
Reference: MedGen: C536987
MeSH: C536987
OMIM: 257300;
MSeqDR LSDB:  
Genes: BUB1B; CEP57; TYRP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001274Agenesis of corpus callosum
3 HP:0000062Ambiguous genitalia
4 HP:0000463Anteverted nares
5 HP:0000048Bifid scrotum
6 HP:0000248Brachycephaly
7 HP:0000518Cataract
NAMDC:  Cataracts
8 HP:0001321Cerebellar hypoplasia
9 HP:0006872Cerebral hypoplasia
10 HP:0000175Cleft palate
11 HP:0005387Combined immunodeficiency
12 HP:0000028Cryptorchidism
13 HP:0001305Dandy-Walker malformation
14 HP:0005280Depressed nasal bridge
15 HP:0000286Epicanthus
16 HP:0008872Feeding difficulties in infancy
17 HP:0001290Generalized hypotonia
18 HP:0002123Generalized myoclonic seizures
19 HP:0002069Generalized tonic-clonic seizures
20 HP:0000348High forehead
21 HP:0000238Hydrocephalus
22 HP:0000316Hypertelorism
23 HP:0006849Hypodysplasia of the corpus callosum
24 HP:0000047Hypospadias
25 HP:0002187Intellectual disability, profound
26 HP:0001511Intrauterine growth retardation
27 HP:0001909Leukemia
28 HP:0000343Long philtrum
29 HP:0000369Low-set ears
30 HP:0000272Malar flattening
31 HP:0000252Microcephaly
32 HP:0000347Micrognathia
33 HP:0000054Micropenis
34 HP:0011800Midface retrusion
35 HP:0002667Nephroblastoma
36 HP:0000639Nystagmus
37 HP:0001562Oligohydramnios
38 HP:0003812Phenotypic variability
39 HP:0000358Posteriorly rotated ears
40 HP:0008897Postnatal growth retardation
41 HP:0200024Premature chromatid separation
42 HP:0000107Renal cyst
43 HP:0002859Rhabdomyosarcoma
44 HP:0011344Severe global developmental delay
45 HP:0000470Short neck
46 HP:0003196Short nose
47 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
48 HP:0000879Short sternum
49 HP:0001518Small for gestational age
50 HP:0000207Triangular mouth
51 HP:0000582Upslanted palpebral fissure
52 HP:0002119Ventriculomegaly
53 HP:0000445Wide nose
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000015.9:g.(?_40409289)_(40512960_?)dup701BUB1BUncertain significance-1RCV002002590; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154040928940512960nana-1-
NC_000015.9:g.(?_40453422)_(40512960_?)dup701BUB1BUncertain significance-1RCV001940061; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045342240512960nana-1-
NM_001211.6(BUB1B):c.9G>T (p.Ala3=)701BUB1BBenignrs7168394RCV000246516|RCV000459103|RCV001651155; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154045343040453430GTNC_000015.9:g.40453430G>TClinGen:CA7475313C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.10G>A (p.Val4Met)701BUB1BLikely benignrs147549987RCV000120414|RCV000475422; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045343140453431GA15:g.40453431G>AClinGen:CA157741C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.15G>A (p.Lys5=)701BUB1BLikely benignrs374433718RCV000867841; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045343640453436GA15:g.40453436G>A-
NM_001211.6(BUB1B):c.21A>C (p.Glu7Asp)701BUB1BUncertain significance-1RCV001938682; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045344240453442AC40453442-
NM_001211.6(BUB1B):c.26G>T (p.Gly9Val)701BUB1BUncertain significance-1RCV001911639; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045344740453447GT40453447-
NM_001211.6(BUB1B):c.35+9G>A701BUB1BLikely benignrs762785947RCV000949455; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045346540453465GA15:g.40453465G>A-
NM_001211.6(BUB1B):c.36-13dup701BUB1BBenignrs150031754RCV000243966|RCV001689823|RCV002057992; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045723840457239GGT15:g.40457238_40457239insTClinGen:CA7475335CN169374 not specified;
NM_001211.6(BUB1B):c.36-14_36-13insG701BUB1BLikely benign-1RCV002186857; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045724040457241TTG40457240-
NC_000015.9:g.(?_40457244)_(40457407_?)dup701BUB1BUncertain significance-1RCV001881801; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045724440457407nana-1-
NM_001211.6(BUB1B):c.36-8C>T701BUB1BLikely benign-1RCV002086693; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045724640457246CT40457246-
NM_001211.6(BUB1B):c.44T>C (p.Met15Thr)701BUB1BUncertain significancers1392369693RCV001244388; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045726240457262TC15:g.40457262T>C-
NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe)701BUB1BUncertain significancers1364339094RCV001067637; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045726540457265CT15:g.40457265C>T-
NM_001211.6(BUB1B):c.60T>C (p.Asp20=)701BUB1BLikely benign-1RCV001479495; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045727840457278TC40457278-
NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln)701BUB1BUncertain significance-1RCV001884665; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045732540457325GA40457325-
NM_001211.6(BUB1B):c.114G>C (p.Met38Ile)701BUB1BUncertain significance-1RCV001987091; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045733240457332GC40457332-
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)701BUB1BBenignrs56079734RCV000007150|RCV000120422|RCV000989284|RCV001594817; NMONDO:MONDO:0002032,MedGen:C0699790|MedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154045733740457337CT15:g.40457337C>TClinGen:CA157765,UniProtKB:O60566#VAR_040402,OMIM:602860.0001C0699790 114500 Carcinoma of colon;
NM_001211.6(BUB1B):c.120G>A (p.Thr40=)701BUB1BLikely benign-1RCV002170002; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045733840457338GA40457338-
NM_001211.6(BUB1B):c.132A>G (p.Ala44=)701BUB1BLikely benign-1RCV002182816; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045735040457350AG40457350-
NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly)701BUB1BUncertain significance-1RCV001986273; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045735540457355CG40457355-
NM_001211.6(BUB1B):c.156C>T (p.Asn52=)701BUB1BLikely benignrs1214786359RCV000908522|RCV001399286; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045737440457374CT15:g.40457374C>T-
NM_001211.6(BUB1B):c.164T>C (p.Leu55Pro)701BUB1BUncertain significance-1RCV001870938; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045738240457382TC40457382-
NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter)701BUB1BPathogenic-1RCV001881383; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045738740457387CT40457387-
NM_001211.6(BUB1B):c.171G>A (p.Gln57=)701BUB1BLikely benignrs777530306RCV000887650|RCV001500960; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045738940457389GA15:g.40457389G>A-
NM_001211.6(BUB1B):c.172C>A (p.Gln58Lys)701BUB1BUncertain significance-1RCV001962458; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045739040457390CA40457390-
NM_001211.6(BUB1B):c.179+15T>C701BUB1BLikely benign-1RCV002164561; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154045741240457412TC40457412-
NM_001211.6(BUB1B):c.180-7A>G701BUB1BLikely benign-1RCV001490861; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046225640462256AG40462256-
NM_001211.6(BUB1B):c.180-3C>T701BUB1BBenignrs200483866RCV000476797; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046226040462260CTNC_000015.9:g.40462260C>TClinGen:CA7475403C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.199C>T (p.Arg67Ter)701BUB1BPathogenic-1RCV001990050; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046228240462282CT40462282-
NM_001211.6(BUB1B):c.200G>A (p.Arg67Gln)701BUB1BUncertain significance-1RCV001935018; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046228340462283GA40462283-
NM_001211.6(BUB1B):c.218A>G (p.Asp73Gly)701BUB1BUncertain significance-1RCV001961860; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046230140462301AG40462301-
NM_001211.6(BUB1B):c.240-11C>T701BUB1BLikely benign-1RCV002107673; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046272740462727CT40462727-
NM_001211.6(BUB1B):c.240-8C>T701BUB1BLikely benign-1RCV002163530; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046273040462730CT40462730-
NM_001211.6(BUB1B):c.244A>G (p.Ile82Val)701BUB1BUncertain significance-1RCV001934153; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046274240462742AG40462742-
NM_001211.6(BUB1B):c.247A>C (p.Ser83Arg)701BUB1BUncertain significance-1RCV001909664; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046274540462745AC40462745-
NM_001211.6(BUB1B):c.255A>G (p.Thr85=)701BUB1BLikely benignrs140273483RCV000539555; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046275340462753AG15:g.40462753A>GClinGen:CA7475437C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.256G>A (p.Glu86Lys)701BUB1BUncertain significancers2037149727RCV001236478; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046275440462754GA15:g.40462754G>A-
NM_001211.6(BUB1B):c.273A>T (p.Gln91His)701BUB1BUncertain significancers751056896RCV000476985; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046277140462771ATNC_000015.9:g.40462771A>TClinGen:CA7475441CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.282G>A (p.Lys94=)701BUB1BBenignrs1801389RCV000242008|RCV001521285|RCV001610613; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154046278040462780GA15:g.40462780G>AClinGen:CA7475443CN169374 not specified;
NM_001211.6(BUB1B):c.286A>G (p.Ser96Gly)701BUB1BUncertain significance-1RCV002038780; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046278440462784AG40462784-
NM_001211.6(BUB1B):c.303A>G (p.Leu101=)701BUB1BLikely benign-1RCV002181042; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046280140462801AG40462801-
NM_001211.6(BUB1B):c.310A>G (p.Arg104Gly)701BUB1BUncertain significancers2037150605RCV001042361; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046280840462808AG15:g.40462808A>G-
NM_001211.6(BUB1B):c.330A>G (p.Gln110=)701BUB1BLikely benign-1RCV002170688; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046282840462828AG40462828-
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)701BUB1BPathogenicrs769350713RCV000500457; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046283840462838CTNC_000015.9:g.40462838C>TClinGen:CA7475454CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.341G>A (p.Arg114Gln)701BUB1BUncertain significance-1RCV001985571; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046283940462839GA40462839-
NM_001211.6(BUB1B):c.343T>C (p.Tyr115His)701BUB1BUncertain significancers748512524RCV001051130; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046284140462841TC15:g.40462841T>C-
NM_001211.6(BUB1B):c.348T>C (p.Tyr116=)701BUB1BBenign/Likely benignrs28989189RCV000233407|RCV000503823|RCV001576318; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN169374|MedGen:CN517202154046284640462846TCNC_000015.9:g.40462846T>CClinGen:CA7475458C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter)701BUB1BPathogenicrs2037151440RCV001055671; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046285640462856CT15:g.40462856C>T-
NM_001211.6(BUB1B):c.384+6T>A701BUB1BUncertain significance-1RCV001939156; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046288840462888TA40462888-
NM_001211.6(BUB1B):c.384+9_384+12del701BUB1BLikely benign-1RCV002177422; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046288840462891GTCTTG40462887-
NM_001211.6(BUB1B):c.385-2460_385-2453dup701BUB1BBenignrs979967281RCV000989285; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046621740466218CCAAAAAAAA15:g.40466217_40466218insAAAAAAAA-
NM_001211.6(BUB1B):c.385-7G>C701BUB1BLikely benign-1RCV001497679; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046867140468671GC40468671-
NM_001211.6(BUB1B):c.387G>T (p.Gly129=)701BUB1BLikely benign-1RCV001426413; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046868040468680GT40468680-
NM_001211.6(BUB1B):c.422dup (p.Tyr141Ter)701BUB1BPathogenic-1RCV001387142; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046871440468715TTA40468714-
NM_001211.6(BUB1B):c.430A>G (p.Asn144Asp)701BUB1BUncertain significance-1RCV001916872; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046872340468723AG40468723-
NM_001211.6(BUB1B):c.451C>T (p.Leu151Phe)701BUB1BUncertain significance-1RCV001879206; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046874440468744CT40468744-
NM_001211.6(BUB1B):c.451C>G (p.Leu151Val)701BUB1BUncertain significance-1RCV001877328; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046874440468744CG40468744-
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)701BUB1BUncertain significance-1RCV001362862; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046875140468751AT40468751-
NM_001211.6(BUB1B):c.463T>C (p.Tyr155His)701BUB1BUncertain significance-1RCV002005667; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046875640468756TC40468756-
NM_001211.6(BUB1B):c.466A>G (p.Ile156Val)701BUB1BUncertain significancers546538543RCV001213151; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046875940468759AG15:g.40468759A>G-
NM_001211.6(BUB1B):c.470C>T (p.Ser157Leu)701BUB1BUncertain significance-1RCV001906928; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046876340468763CT40468763-
NM_001211.6(BUB1B):c.483A>T (p.Glu161Asp)701BUB1BUncertain significance-1RCV002020517; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046877640468776AT40468776-
NM_001211.6(BUB1B):c.485A>G (p.Tyr162Cys)701BUB1BUncertain significance-1RCV001937101; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046877840468778AG40468778-
NM_001211.6(BUB1B):c.495A>G (p.Arg165=)701BUB1BLikely benign-1RCV001437110; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046878840468788AG40468788-
NM_001211.6(BUB1B):c.505A>G (p.Arg169Gly)701BUB1BUncertain significance-1RCV001369363; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046879840468798AG40468798-
NM_001211.6(BUB1B):c.518C>T (p.Ala173Val)701BUB1BUncertain significancers552380700RCV001060520; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046881140468811CT15:g.40468811C>T-
NM_001211.6(BUB1B):c.540A>G (p.Gln180=)701BUB1BLikely benignrs1595514520RCV000930820|RCV001429644; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046883340468833AG15:g.40468833A>G-
NM_001211.6(BUB1B):c.547G>A (p.Ala183Thr)701BUB1BUncertain significancers1442788795RCV001037076; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046884040468840GA15:g.40468840G>A-
NM_001211.6(BUB1B):c.547G>C (p.Ala183Pro)701BUB1BUncertain significance-1RCV002032931; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046884040468840GC40468840-
NM_001211.6(BUB1B):c.555A>G (p.Pro185=)701BUB1BBenignrs139794931RCV000870471; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046884840468848AG15:g.40468848A>G-
NM_001211.6(BUB1B):c.567A>G (p.Leu189=)701BUB1BLikely benign-1RCV001490435; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046886040468860AG40468860-
NM_001211.6(BUB1B):c.573C>A (p.Ser191=)701BUB1BBenignrs138809057RCV000558456|RCV001528523; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154046886640468866CA15:g.40468866C>AClinGen:CA7475505C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.578del (p.His193fs)701BUB1BPathogenicrs1179465577RCV001218336; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046887140468871CAC15:g.40468871_40468871del-
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)701BUB1BPathogenicrs28989186RCV000007152|RCV000007153; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430154046887340468873CT15:g.40468873C>TClinGen:CA118485,OMIM:602860.0003CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.581+1G>T701BUB1BLikely pathogenic-1RCV002014132; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154046887540468875GT40468875-
NM_001211.6(BUB1B):c.582-14T>A701BUB1BLikely benign-1RCV002155466; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047590140475901TA40475901-
NC_000015.10:g.(?_40183704)_(40185652_?)del701BUB1BUncertain significance-1RCV001031520|RCV001374002; NMONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047590540477853nana-1-
NM_001211.6(BUB1B):c.582-3T>C701BUB1BUncertain significance-1RCV001926884; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047591240475912TC40475912-
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)701BUB1BLikely benignrs1595518738RCV000989286; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047591840475918AG15:g.40475918A>G-
NM_001211.6(BUB1B):c.591A>G (p.Gln197=)701BUB1BLikely benign-1RCV002194662; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047592440475924AG40475924-
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter)701BUB1BPathogenicrs1403423766RCV001209103; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047592840475928CT15:g.40475928C>T-
NM_001211.6(BUB1B):c.596G>A (p.Arg199Gln)701BUB1BUncertain significance-1RCV001973668; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047592940475929GA40475929-
NM_001211.6(BUB1B):c.605G>A (p.Arg202Gln)701BUB1BUncertain significancers768417752RCV000468964; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047593840475938GANC_000015.9:g.40475938G>AClinGen:CA7475523CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.627G>A (p.Glu209=)701BUB1BLikely benign-1RCV001392276; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047596040475960GA40475960-
NM_001211.6(BUB1B):c.630AGA[2] (p.Glu215del)701BUB1BUncertain significance-1RCV001967641; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047596240475964AAAGA40475961-
NM_001211.6(BUB1B):c.631G>C (p.Glu211Gln)701BUB1BUncertain significancers1566819827RCV000690896; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047596440475964GCNC_000015.9:g.40475964G>C-C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.636A>G (p.Glu212=)701BUB1BLikely benign-1RCV002108182; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047596940475969AG40475969-
NM_001211.6(BUB1B):c.647T>G (p.Val216Gly)701BUB1BUncertain significance-1RCV001865109; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047598040475980TG40475980-
NM_001211.6(BUB1B):c.650T>A (p.Phe217Tyr)701BUB1BUncertain significance-1RCV001365287; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047598340475983TA40475983-
NM_001211.6(BUB1B):c.655T>C (p.Ser219Pro)701BUB1BUncertain significancers893191577RCV001292657; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047598840475988TC40475988-
NM_001211.6(BUB1B):c.663A>G (p.Val221=)701BUB1BLikely benignrs774346563RCV000951745; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047599640475996AG15:g.40475996A>G-
NM_001211.6(BUB1B):c.669A>G (p.Gln223=)701BUB1BUncertain significance-1RCV001881411; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047600240476002AG40476002-
NM_001211.6(BUB1B):c.671G>A (p.Arg224Gln)701BUB1BUncertain significance-1RCV001927611; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047600440476004GA40476004-
NM_001211.6(BUB1B):c.678A>G (p.Thr226=)701BUB1BLikely benignrs142284213RCV000868500|RCV001477632; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047601140476011AG15:g.40476011A>G-
NM_001211.6(BUB1B):c.679C>T (p.Leu227=)701BUB1BLikely benign-1RCV001457051; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047601240476012CT40476012-
NM_001211.6(BUB1B):c.693_694insTT (p.Ser232fs)701BUB1BPathogenic-1RCV001388465; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047602640476027GGTT40476026-
NM_001211.6(BUB1B):c.699A>C (p.Lys233Asn)701BUB1BUncertain significance-1RCV001371609; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047603240476032AC40476032-
NM_001211.6(BUB1B):c.709_712del (p.Thr237fs)701BUB1BPathogenicrs992789522RCV001053809; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047604040476043AAGACA15:g.40476040_40476043del-
NM_001211.6(BUB1B):c.730C>T (p.Arg244Cys)701BUB1BUncertain significance-1RCV001898079; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047606340476063CT40476063-
NM_001211.6(BUB1B):c.732T>A (p.Arg244=)701BUB1BLikely benign-1RCV001464351; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047606540476065TA40476065-
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)701BUB1BUncertain significancers1407334063RCV000641230|RCV000763964; NMONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047607040476070GA15:g.40476070G>AClinGen:CA391683499C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.751+4A>G701BUB1BUncertain significancers1248348421RCV000821458; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047608840476088AG15:g.40476088A>G-
NM_001211.6(BUB1B):c.751+9G>A701BUB1BLikely benignrs372133651RCV000474062|RCV002063670; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047609340476093GANC_000015.9:g.40476093G>AClinGen:CA7475549CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.751+9G>C701BUB1BLikely benignrs372133651RCV000902387|RCV001408674; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047609340476093GC15:g.40476093G>C-
NM_001211.6(BUB1B):c.751+12A>C701BUB1BLikely benign-1RCV002207222; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047609640476096AC40476096-
NM_001211.6(BUB1B):c.751+15C>T701BUB1BBenign-1RCV002142669; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047609940476099CT40476099-
NM_001211.6(BUB1B):c.752-13T>C701BUB1BLikely benign-1RCV002216003; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047735340477353TC40477353-
NM_001211.6(BUB1B):c.752-6T>C701BUB1BLikely benign-1RCV001497543; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047736040477360TC40477360-
NM_001211.6(BUB1B):c.752-5C>T701BUB1BLikely benign-1RCV002081642; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047736140477361CT40477361-
NM_001211.6(BUB1B):c.772C>T (p.Leu258Phe)701BUB1BLikely benignrs146387899RCV000471425; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047738640477386CTNC_000015.9:g.40477386C>TClinGen:CA7475570C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.797T>G (p.Met266Arg)701BUB1BUncertain significance-1RCV001875677; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047741140477411TG40477411-
NM_001211.6(BUB1B):c.799C>T (p.Gln267Ter)701BUB1BPathogenic-1RCV001383289; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047741340477413CT40477413-
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)701BUB1BConflicting interpretations of pathogenicityrs148159407RCV000120428|RCV000458505|RCV000763965; NMedGen:CN169374|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430154047741940477419AG15:g.40477419A>GClinGen:CA157783C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.814A>G (p.Ile272Val)701BUB1BUncertain significance-1RCV001925704; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047742840477428AG40477428-
NM_001211.6(BUB1B):c.827A>G (p.Asp276Gly)701BUB1BUncertain significance-1RCV001969824; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047744140477441AG40477441-
NM_001211.6(BUB1B):c.843G>C (p.Glu281Asp)701BUB1BUncertain significance-1RCV001955948; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047745740477457GC40477457-
NM_001211.6(BUB1B):c.846T>G (p.Ala282=)701BUB1BLikely benignrs773703818RCV000864939; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047746040477460TG15:g.40477460T>G-
NM_001211.6(BUB1B):c.850A>G (p.Thr284Ala)701BUB1BUncertain significance-1RCV002036061; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047746440477464AG40477464-
NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly)701BUB1BUncertain significancers2037345499RCV001331827; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047747140477471AG40477471-
NM_001211.6(BUB1B):c.862T>C (p.Ser288Pro)701BUB1BUncertain significance-1RCV001928201; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047747640477476TC40477476-
NM_001211.6(BUB1B):c.877C>T (p.Gln293Ter)701BUB1BPathogenic-1RCV002000022; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047749140477491CT40477491-
NM_001211.6(BUB1B):c.882A>C (p.Pro294=)701BUB1BLikely benign-1RCV002207264; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047749640477496AC40477496-
NM_001211.6(BUB1B):c.889G>A (p.Ala297Thr)701BUB1BUncertain significance-1RCV001936767; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047750340477503GA40477503-
NM_001211.6(BUB1B):c.892C>T (p.Pro298Ser)701BUB1BUncertain significancers756759220RCV000641240; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047750640477506CT15:g.40477506C>TClinGen:CA7475589C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.897C>G (p.Pro299=)701BUB1BLikely benignrs374307209RCV000534853; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047751140477511CG15:g.40477511C>GClinGen:CA7475591C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.903C>T (p.Pro301=)701BUB1BLikely benign-1RCV002199824; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047751740477517CT40477517-
NM_001211.6(BUB1B):c.911A>G (p.Lys304Arg)701BUB1BUncertain significance-1RCV002010238; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047752540477525AG40477525-
NM_001211.6(BUB1B):c.917A>G (p.Asn306Ser)701BUB1BUncertain significance-1RCV001891221; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047753140477531AG40477531-
NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter)701BUB1BPathogenicrs2037346846RCV001059973; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047753940477539CT15:g.40477539C>T-
NM_001211.6(BUB1B):c.950G>A (p.Arg317Lys)701BUB1BUncertain significance-1RCV001989393; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047756440477564GA40477564-
NM_001211.6(BUB1B):c.954C>A (p.Ser318=)701BUB1BUncertain significance-1RCV001987641; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047756840477568CA40477568-
NM_001211.6(BUB1B):c.966+7A>C701BUB1BLikely benign-1RCV002086770; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047758740477587AC40477587-
NM_001211.6(BUB1B):c.966+14G>C701BUB1BLikely benign-1RCV002112403; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047759440477594GC40477594-
NM_001211.6(BUB1B):c.967-17TTC[2]701BUB1BUncertain significance-1RCV001919502; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047773540477737TTTCT40477734-
NM_001211.6(BUB1B):c.967-8A>C701BUB1BLikely benign-1RCV001401753; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047774440477744AC40477744-
NM_001211.6(BUB1B):c.967-4C>G701BUB1BLikely benignrs1199649373RCV000868760; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047774840477748CG15:g.40477748C>G-
NM_001211.6(BUB1B):c.967-2A>T701BUB1BLikely pathogenicrs2037350060RCV001070312; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047775040477750AT15:g.40477750A>T-
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)701BUB1BConflicting interpretations of pathogenicityrs141953425RCV000120430|RCV000472793|RCV000763966|RCV001543132|RCV001762250|RCV001762251; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MONDO:MONDO:0000141,MedGen:C4154047778640477786CT15:g.40477786C>TClinGen:CA157787C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1003G>A (p.Ala335Thr)701BUB1BUncertain significancers145184714RCV001207868; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047778840477788GA15:g.40477788G>A-
NM_001211.6(BUB1B):c.1004C>G (p.Ala335Gly)701BUB1BUncertain significance-1RCV001955990; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047778940477789CG40477789-
NM_001211.6(BUB1B):c.1008G>A (p.Val336=)701BUB1BLikely benignrs765922572RCV000874929; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047779340477793GA15:g.40477793G>A-
NM_001211.6(BUB1B):c.1038G>A (p.Glu346=)701BUB1BLikely benign-1RCV001502294; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047782340477823GA40477823-
NM_001211.6(BUB1B):c.1045del (p.Arg349fs)701BUB1BPathogenic-1RCV001775445; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047783040477830ACA40477829-
NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln)701BUB1BBenignrs1801376RCV000120431|RCV001510398; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047783140477831GA15:g.40477831G>AClinGen:CA157790CN169374 not specified;
NM_001211.6(BUB1B):c.1046= (p.Arg349=)701BUB1BBenignrs1801376RCV000210495; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047783140477831GGNC_000015.9:g.40477831%3DClinGen:CA356452C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1058+8_1058+9del701BUB1BLikely benign-1RCV001494278; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047784840477849AGTA40477847-
NM_001211.6(BUB1B):c.1058+7G>T701BUB1BLikely benignrs904070234RCV000861473|RCV002064433; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047785040477850GT15:g.40477850G>T-
NM_001211.6(BUB1B):c.1058+9G>A701BUB1BLikely benign-1RCV001477243; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047785240477852GA40477852-
NM_001211.6(BUB1B):c.1058+11T>G701BUB1BLikely benign-1RCV002146072; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154047785440477854TG40477854-
NM_001211.6(BUB1B):c.1059-10G>A701BUB1BLikely benignrs200485522RCV000873197; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048873640488736GA15:g.40488736G>A-
NM_001211.6(BUB1B):c.1059-7del701BUB1BLikely benignrs770579508RCV000641243; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048873840488738CTC15:g.40488738_40488738delClinGen:CA7475655C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1071A>G (p.Lys357=)701BUB1BLikely benignrs1595526276RCV000886556|RCV001491841; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048875840488758AG15:g.40488758A>G-
NM_001211.6(BUB1B):c.1079C>G (p.Pro360Arg)701BUB1BUncertain significancers1060499942RCV000472241; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048876640488766CGNC_000015.9:g.40488766C>GClinGen:CA16614360CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg)701BUB1BUncertain significance-1RCV001775456|RCV002034504; NMONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048877040488770TG40488770-
NM_001211.6(BUB1B):c.1100G>A (p.Ser367Asn)701BUB1BUncertain significance-1RCV001929281; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048878740488787GA40488787-
NM_001211.6(BUB1B):c.1113T>C (p.Pro371=)701BUB1BLikely benign-1RCV002151790; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048880040488800TC40488800-
NM_001211.6(BUB1B):c.1127_1128delinsTT (p.Gly376Val)701BUB1BUncertain significancers386783327RCV000468452; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048881440488815GATTNC_000015.9:g.40488814_40488815delinsTTClinGen:CA16614595CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1137A>G (p.Leu379=)701BUB1BLikely benignrs770658836RCV000946434; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048882440488824AG15:g.40488824A>G-
NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val)701BUB1BUncertain significance-1RCV001888655; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048885040488850CT40488850-
NM_001211.6(BUB1B):c.1164G>A (p.Ala388=)701BUB1BBenignrs1047130RCV000254288|RCV001510589|RCV001668465; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154048885140488851GANC_000015.9:g.40488851G>AClinGen:CA7475670CN169374 not specified;
NM_001211.6(BUB1B):c.1164G>T (p.Ala388=)701BUB1BLikely benignrs1047130RCV000976840; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048885140488851GT15:g.40488851G>T-
NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp)701BUB1BBenignrs1017842RCV000120433|RCV000462438|RCV001675628; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154048885740488857GC15:g.40488857G>CClinGen:CA157796,UniProtKB:O60566#VAR_028922C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1209T>A (p.Ile403=)701BUB1BLikely benign-1RCV002115244; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048889640488896TA40488896-
NM_001211.6(BUB1B):c.1228T>C (p.Phe410Leu)701BUB1BUncertain significance-1RCV001366525; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048891540488915TC40488915-
NM_001211.6(BUB1B):c.1230C>T (p.Phe410=)701BUB1BBenignrs61733369RCV000458500; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048891740488917CTNC_000015.9:g.40488917C>TClinGen:CA7475678C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1243A>G (p.Ile415Val)701BUB1BUncertain significance-1RCV002031228; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048893040488930AG40488930-
NM_001211.6(BUB1B):c.1259T>C (p.Phe420Ser)701BUB1BUncertain significance-1RCV001932522; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048894640488946TC40488946-
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp)701BUB1BConflicting interpretations of pathogenicityrs201251790RCV000530485|RCV001764569; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500154048894840488948CTNC_000015.9:g.40488948C>TClinGen:CA7475681C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1288+5G>A701BUB1BUncertain significancers770077868RCV000641222; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048898040488980GA15:g.40488980G>AClinGen:CA7475683C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1288+12T>C701BUB1BLikely benign-1RCV002210598; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048898740488987TC40488987-
NM_001211.6(BUB1B):c.1288+13C>T701BUB1BLikely benign-1RCV002097518; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154048898840488988CT40488988-
NM_001211.6(BUB1B):c.1289-9T>C701BUB1BLikely benign-1RCV001488343; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049180740491807TC40491807-
NM_001211.6(BUB1B):c.1290C>T (p.Ala430=)701BUB1BLikely benign-1RCV001464824; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049181740491817CT40491817-
NM_001211.6(BUB1B):c.1291G>A (p.Glu431Lys)701BUB1BUncertain significance-1RCV001892074; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049181840491818GA40491818-
NM_001211.6(BUB1B):c.1296A>G (p.Leu432=)701BUB1BLikely benign-1RCV002174952; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049182340491823AG40491823-
NM_001211.6(BUB1B):c.1298T>A (p.Leu433Ter)701BUB1BPathogenic-1RCV001922535; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049182540491825TA40491825-
NM_001211.6(BUB1B):c.1299G>C (p.Leu433Phe)701BUB1BUncertain significance-1RCV001943673; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049182640491826GC40491826-
NM_001211.6(BUB1B):c.1308A>G (p.Ala436=)701BUB1BLikely benign-1RCV001426874; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049183540491835AG40491835-
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)701BUB1BUncertain significancers373256667RCV000641234|RCV000763967; NMONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049188840491888AG15:g.40491888A>GClinGen:CA7475711C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1368C>T (p.Ile456=)701BUB1BLikely benignrs201813238RCV000557386; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049189540491895CT15:g.40491895C>TClinGen:CA7475713C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)701BUB1BLikely benignrs141013408RCV000233591; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049189840491898AG15:g.40491898A>GClinGen:CA7475714CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1401+18A>G701BUB1BLikely benign-1RCV002149957; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049194640491946AG40491946-
NM_001211.6(BUB1B):c.1402-5A>G701BUB1BPathogenic; Affectsrs1566824771RCV000007170|RCV000007171; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430154049244040492440AGNC_000015.9:g.40492440A>GOMIM:602860.0012CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1402-1G>T701BUB1BPathogenic; Affectsrs1566824774RCV000007167|RCV000007166; NMONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049244440492444GT15:g.40492444G>TOMIM:602860.0010CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1413G>A (p.Thr471=)701BUB1BLikely benignrs374560564RCV000870537|RCV001491340; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049245640492456GA15:g.40492456G>A-
NM_001211.6(BUB1B):c.1413G>T (p.Thr471=)701BUB1BLikely benignrs374560564RCV000866840|RCV001405875; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049245640492456GT15:g.40492456G>T-
NM_001211.6(BUB1B):c.1419T>C (p.Pro473=)701BUB1BLikely benign-1RCV001493018; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049246240492462TC40492462-
NM_001211.6(BUB1B):c.1437A>G (p.Lys479=)701BUB1BLikely benign-1RCV001411297; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049248040492480AG40492480-
NM_001211.6(BUB1B):c.1441C>T (p.Gln481Ter)701BUB1BPathogenic-1RCV001909512; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049248440492484CT40492484-
NM_001211.6(BUB1B):c.1443A>G (p.Gln481=)701BUB1BLikely benignrs754657047RCV000870104; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049248640492486AG15:g.40492486A>G-
NM_001211.6(BUB1B):c.1444A>G (p.Ile482Val)701BUB1BUncertain significancers780725534RCV001052300; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049248740492487AG15:g.40492487A>G-
NM_001211.6(BUB1B):c.1449T>C (p.Ala483=)701BUB1BLikely benignrs755711414RCV000920945|RCV001484257; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049249240492492TC15:g.40492492T>C-
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)701BUB1BUncertain significancers770704003RCV000460185|RCV000765203; NMONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430; MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049249640492496GANC_000015.9:g.40492496G>AClinGen:CA7475754CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1466_1470dup (p.Gly491fs)701BUB1BPathogenic-1RCV001915608; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049250740492508AAATACC40492507-
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)701BUB1BUncertain significancers146795655RCV000120417|RCV000226228|RCV000765204|RCV001753502; NMedGen:CN169374|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052; MONDO:MONDO:0002032,MedGen:C0699790; MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MedGen:CN517202154049252140492521CT15:g.40492521C>TClinGen:CA157750C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1517G>A (p.Arg506Lys)701BUB1BUncertain significance-1RCV001919263; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049256040492560GA40492560-
NM_001211.6(BUB1B):c.1517+7C>G701BUB1BLikely benign-1RCV001439384; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049256740492567CG40492567-
NM_001211.6(BUB1B):c.1517+10C>T701BUB1BLikely benign-1RCV001464421; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049257040492570CT40492570-
NM_001211.6(BUB1B):c.1520A>G (p.Glu507Gly)701BUB1BUncertain significance-1RCV001761707|RCV001868775; NMONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049313440493134AG40493134-
NM_001211.6(BUB1B):c.1533G>A (p.Ala511=)701BUB1BUncertain significancers779879463RCV001216888; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049314740493147GA15:g.40493147G>A-
NM_001211.6(BUB1B):c.1535A>G (p.Glu512Gly)701BUB1BUncertain significance-1RCV001371357; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049314940493149AG40493149-
NM_001211.6(BUB1B):c.1539C>T (p.Asn513=)701BUB1BLikely benignrs140534961RCV000462870; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049315340493153CTNC_000015.9:g.40493153C>TClinGen:CA7475793CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1546C>G (p.Gln516Glu)701BUB1BUncertain significance-1RCV001945230; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049316040493160CG40493160-
NM_001211.6(BUB1B):c.1568-16G>T701BUB1BLikely benign-1RCV002167720; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049459040494590GT40494590-
NM_001211.6(BUB1B):c.1568-16G>A701BUB1BLikely benign-1RCV002130358; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049459040494590GA40494590-
NM_001211.6(BUB1B):c.1568-5T>A701BUB1BLikely benign-1RCV001421447; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049460140494601TA40494601-
NM_001211.6(BUB1B):c.1587C>T (p.Ser529=)701BUB1BLikely benign-1RCV002075628; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049462540494625CT40494625-
NM_001211.6(BUB1B):c.1590T>A (p.Ile530=)701BUB1BLikely benign-1RCV002075796; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049462840494628TA40494628-
NM_001211.6(BUB1B):c.1611A>G (p.Ser537=)701BUB1BLikely benign-1RCV001410028; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049464940494649AG40494649-
NM_001211.6(BUB1B):c.1620G>A (p.Lys540=)701BUB1BLikely benign-1RCV001487946; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049465840494658GA40494658-
NM_001211.6(BUB1B):c.1623T>C (p.Asn541=)701BUB1BBenignrs1129352RCV000246291|RCV000466207|RCV001537598; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154049466140494661TCNC_000015.9:g.40494661T>CClinGen:CA7475818C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1624A>G (p.Lys542Glu)701BUB1BUncertain significance-1RCV001955743; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049466240494662AG40494662-
NM_001211.6(BUB1B):c.1628+5G>A701BUB1BUncertain significancers368202270RCV000697896; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049467140494671GA15:g.40494671G>A-C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1628+17_1628+24del701BUB1BLikely benign-1RCV002220482; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049467240494679GTTGTTTTTG40494671-
NM_001211.6(BUB1B):c.1628+8del701BUB1BLikely benign-1RCV001499234; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049467440494674TGT40494673-
NM_001211.6(BUB1B):c.1628+15dup701BUB1BBenign-1RCV002154944; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049467440494675GGT40494674-
NM_001211.6(BUB1B):c.1628+9T>C701BUB1BLikely benignrs112600564RCV000456896; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049467540494675TCNC_000015.9:g.40494675T>CClinGen:CA7475821C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1628+24_1628+32del701BUB1BLikely benign-1RCV002115539; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049468240494690TGTTTTTTTGT40494681-
NM_001211.6(BUB1B):c.1628+23dup701BUB1BBenign-1RCV002095709; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049468240494683GGT40494682-
NM_001211.6(BUB1B):c.1628+17T>G701BUB1BLikely benign-1RCV002138414; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049468340494683TG40494683-
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)701BUB1BUncertain significancers138332995RCV000230124|RCV000765205|RCV001357479; NMONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430; MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052; MONDO:MONDO:0002032,MedGen:C0699790|MedGen:CN517202154049479140494791CT15:g.40494791C>TClinGen:CA7475854C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter)701BUB1BPathogenicrs767213728RCV000505636; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049480940494809CT15:g.40494809C>TClinGen:CA7475858CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)701BUB1BBenign/Likely benignrs28989187RCV000007164|RCV000007165; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430154049481040494810GA15:g.40494810G>AClinGen:CA118500,UniProtKB:O60566#VAR_028923,OMIM:602860.0009C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1670C>G (p.Pro557Arg)701BUB1BUncertain significance-1RCV002045393; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049483140494831CG40494831-
NM_001211.6(BUB1B):c.1678G>A (p.Val560Ile)701BUB1BUncertain significance-1RCV001978991; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049483940494839GA40494839-
NM_001211.6(BUB1B):c.1693G>C (p.Glu565Gln)701BUB1BUncertain significance-1RCV002011983; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049485440494854GC40494854-
NM_001211.6(BUB1B):c.1717G>C (p.Val573Leu)701BUB1BUncertain significance-1RCV001996520; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049487840494878GC40494878-
NM_001211.6(BUB1B):c.1725A>C (p.Pro575=)701BUB1BLikely benignrs1042674657RCV000870146|RCV001487926; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049488640494886AC15:g.40494886A>C-
NM_001211.6(BUB1B):c.1734+18T>C701BUB1BLikely benign-1RCV002082987; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049491340494913TC40494913-
NM_001211.6(BUB1B):c.1735-19T>C701BUB1BLikely benign-1RCV002098317; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049836640498366TC40498366-
NM_001211.6(BUB1B):c.1746A>C (p.Thr582=)701BUB1BConflicting interpretations of pathogenicityrs373105304RCV000560436|RCV000732068; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154049839640498396AC15:g.40498396A>CClinGen:CA7475886C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1764C>T (p.Ser588=)701BUB1BUncertain significance-1RCV001907285; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049841440498414CT40498414-
NM_001211.6(BUB1B):c.1765G>A (p.Glu589Lys)701BUB1BUncertain significance-1RCV001914009; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049841540498415GA40498415-
NM_001211.6(BUB1B):c.1815A>T (p.Pro605=)701BUB1BLikely benign-1RCV001473532; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049846540498465AT40498465-
NM_001211.6(BUB1B):c.1826G>T (p.Cys609Phe)701BUB1BUncertain significancers1260445282RCV001292938; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049847640498476GT40498476-
NM_001211.6(BUB1B):c.1833del (p.Phe611fs)701BUB1BPathogenic; Affectsrs1566826570RCV000007169|RCV000007168; NMONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049848140498481CTCNC_000015.9:g.40498483delOMIM:602860.0011CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1842A>G (p.Ala614=)701BUB1BLikely benign-1RCV001500968; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049849240498492AG40498492-
NM_001211.6(BUB1B):c.1846C>T (p.Arg616Cys)701BUB1BUncertain significance-1RCV001371368; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049849640498496CT40498496-
NM_001211.6(BUB1B):c.1847G>A (p.Arg616His)701BUB1BUncertain significancers556193159RCV000641231; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049849740498497GANC_000015.9:g.40498497G>AClinGen:CA268798086C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1847G>C (p.Arg616Pro)701BUB1BUncertain significance-1RCV001361880; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049849740498497GC40498497-
NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala)701BUB1BBenignrs1801528RCV000120419|RCV000468405|RCV001598627; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154049850340498503TC15:g.40498503T>CClinGen:CA157756,UniProtKB:O60566#VAR_008854C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1877T>C (p.Met626Thr)701BUB1BUncertain significance-1RCV001884809; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049852740498527TC40498527-
NM_001211.6(BUB1B):c.1897T>A (p.Ser633Thr)701BUB1BUncertain significance-1RCV001364531; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049854740498547TA40498547-
NM_001211.6(BUB1B):c.1906del (p.Glu636fs)701BUB1BPathogenic-1RCV001955723; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049855640498556TGT40498555-
NM_001211.6(BUB1B):c.1910G>A (p.Arg637Lys)701BUB1BUncertain significance-1RCV001930805; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049856040498560GA40498560-
NM_001211.6(BUB1B):c.1920G>A (p.Pro640=)701BUB1BBenignrs755507111RCV000475358; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049857040498570GANC_000015.9:g.40498570G>AClinGen:CA7475903CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1922A>T (p.Glu641Val)701BUB1BUncertain significance-1RCV001363695; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049857240498572AT40498572-
NM_001211.6(BUB1B):c.1936G>A (p.Val646Ile)701BUB1BUncertain significance-1RCV001990281; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049858640498586GA40498586-
NM_001211.6(BUB1B):c.1938A>G (p.Val646=)701BUB1BLikely benign-1RCV001466612; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049858840498588AG40498588-
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)701BUB1BUncertain significancers148348158RCV001331826; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049859340498593CT15:g.40498593C>T-C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1973C>T (p.Thr658Ile)701BUB1BUncertain significancers373789523RCV000797736; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049862340498623CT15:g.40498623C>T-
NM_001211.6(BUB1B):c.1977C>A (p.Ile659=)701BUB1BLikely benign-1RCV001430050; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049862740498627CA40498627-
NM_001211.6(BUB1B):c.1980C>T (p.Tyr660=)701BUB1BLikely benign-1RCV001499737; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049863040498630CT40498630-
NM_001211.6(BUB1B):c.1982G>A (p.Ser661Asn)701BUB1BUncertain significance-1RCV001967103; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049863240498632GA40498632-
NM_001211.6(BUB1B):c.1985A>G (p.Gln662Arg)701BUB1BUncertain significance-1RCV001984924; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049863540498635AG40498635-
NM_001211.6(BUB1B):c.2007G>A (p.Leu669=)701BUB1BLikely benign-1RCV002165341; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049865740498657GA40498657-
NM_001211.6(BUB1B):c.2009+17_2009+18insC701BUB1BLikely benign-1RCV002095825; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154049867640498677AAC40498676-
NM_001211.6(BUB1B):c.2010-19T>A701BUB1BLikely benign-1RCV002212873; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050081940500819TA40500819-
NM_001211.6(BUB1B):c.2010-11G>T701BUB1BLikely benign-1RCV002083811; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050082740500827GT40500827-
NM_001211.6(BUB1B):c.2025C>T (p.Asp675=)701BUB1BLikely benign-1RCV002076990; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050085340500853CT40500853-
NM_001211.6(BUB1B):c.2037C>T (p.Ala679=)701BUB1BLikely benignrs1595532884RCV000982293; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050086540500865CT15:g.40500865C>T-
NM_001211.6(BUB1B):c.2042A>C (p.His681Pro)701BUB1BUncertain significance-1RCV001367994; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050087040500870AC40500870-
NM_001211.6(BUB1B):c.2046C>T (p.Ser682=)701BUB1BLikely benign-1RCV002178290; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050087440500874CT40500874-
NM_001211.6(BUB1B):c.2072C>T (p.Ser691Leu)701BUB1BUncertain significance-1RCV002007943; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050090040500900CT40500900-
NM_001211.6(BUB1B):c.2097A>C (p.Lys699Asn)701BUB1BUncertain significance-1RCV001368984; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050092540500925AC40500925-
NM_001211.6(BUB1B):c.2119C>T (p.Leu707=)701BUB1BLikely benignrs1595532945RCV000936347|RCV001402415; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050094740500947CT15:g.40500947C>T-
NM_001211.6(BUB1B):c.2137A>C (p.Thr713Pro)701BUB1BUncertain significance-1RCV002028691; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050096540500965AC40500965-
NM_001211.6(BUB1B):c.2143+15C>T701BUB1BBenignrs11630664RCV000242388|RCV001668466|RCV001554489; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050098640500986CTNC_000015.9:g.40500986C>TClinGen:CA7475961CN169374 not specified;
NM_001211.6(BUB1B):c.2143+16C>A701BUB1BLikely benign-1RCV002150933; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050098740500987CA40500987-
NM_001211.6(BUB1B):c.2143+20A>G701BUB1BLikely benign-1RCV002145089; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050099140500991AG40500991-
NM_001211.6(BUB1B):c.2144-14C>T701BUB1BLikely benign-1RCV002199955; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050182240501822CT40501822-
NM_001211.6(BUB1B):c.2144-7C>G701BUB1BUncertain significance-1RCV001932129; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050182940501829CG40501829-
NM_001211.6(BUB1B):c.2144-6T>C701BUB1BLikely benignrs1595533439RCV000975917|RCV001469797; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050183040501830TC15:g.40501830T>C-
NM_001211.6(BUB1B):c.2144-5G>A701BUB1BUncertain significancers2037684260RCV001224628; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050183140501831GA15:g.40501831G>A-
NM_001211.6(BUB1B):c.2144-4G>A701BUB1BLikely benignrs778833334RCV000871717; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050183240501832GA15:g.40501832G>A-
NM_001211.6(BUB1B):c.2160A>T (p.Ser720=)701BUB1BLikely benign-1RCV001430953; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050185240501852AT40501852-
NM_001211.6(BUB1B):c.2163A>G (p.Pro721=)701BUB1BLikely benign-1RCV002208637; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050185540501855AG40501855-
NM_001211.6(BUB1B):c.2174A>C (p.Gln725Pro)701BUB1BUncertain significance-1RCV002022507; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050186640501866AC40501866-
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs)701BUB1BPathogenic; Affectsrs1392909108RCV000007158|RCV000007159; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430154050189840501899GGAGTTNC_000015.9:g.40501900_40501903dupOMIM:602860.0006CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2208G>A (p.Glu736=)701BUB1BLikely benign-1RCV002080329; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050190040501900GA40501900-
NM_001211.6(BUB1B):c.2210del (p.Glu736_Leu737insTer)701BUB1BPathogenic-1RCV001939359; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050190140501901GTG40501900-
NM_001211.6(BUB1B):c.2210T>G (p.Leu737Ter)701BUB1BPathogenicrs759242053RCV000641226; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050190240501902TG15:g.40501902T>GClinGen:CA7475986C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2284+17T>G701BUB1BBenignrs13380241RCV000247377|RCV002057991|RCV001618412; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154050199340501993TGNC_000015.9:g.40501993T>GClinGen:CA7475998CN169374 not specified;
NM_001211.6(BUB1B):c.2284+18C>T701BUB1BLikely benign-1RCV002120831; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050199440501994CT40501994-
NM_001211.6(BUB1B):c.2285-12C>T701BUB1BLikely benign-1RCV002089319; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050229940502299CT40502299-
NM_001211.6(BUB1B):c.2285-4A>G701BUB1BUncertain significancers1555383523RCV000641225; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050230740502307AG15:g.40502307A>GClinGen:CA658798301C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2285-3C>T701BUB1BUncertain significance-1RCV002037188; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050230840502308CT40502308-
NM_001211.6(BUB1B):c.2292G>A (p.Glu764=)701BUB1BLikely benign-1RCV002084785; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050231840502318GA40502318-
NM_001211.6(BUB1B):c.2299T>C (p.Cys767Arg)701BUB1BUncertain significance-1RCV001870290; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050232540502325TC40502325-
NM_001211.6(BUB1B):c.2308C>T (p.Arg770Ter)701BUB1BPathogenicrs750364303RCV000464463; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050233440502334CTNC_000015.9:g.40502334C>TClinGen:CA7476012CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2309G>A (p.Arg770Gln)701BUB1BUncertain significance-1RCV001987328; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050233540502335GA40502335-
NM_001211.6(BUB1B):c.2328A>C (p.Glu776Asp)701BUB1BUncertain significance-1RCV001909413; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050235440502354AC40502354-
NM_001211.6(BUB1B):c.2334C>G (p.Tyr778Ter)701BUB1BPathogenic-1RCV001882210; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050236040502360CG40502360-
NM_001211.6(BUB1B):c.2341T>C (p.Phe781Leu)701BUB1BUncertain significance-1RCV002022881; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050236740502367TC40502367-
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs)701BUB1BPathogenic/Likely pathogenicrs756459860RCV001268170|RCV001880163; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050238740502388ACTA15:g.40502387_40502388del-
NM_001211.6(BUB1B):c.2385G>C (p.Lys795Asn)701BUB1BUncertain significance-1RCV002024636; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050241140502411GC40502411-
NM_001211.6(BUB1B):c.2385+4G>C701BUB1BUncertain significancers202108787RCV000232917; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050241540502415GC15:g.40502415G>CClinGen:CA7476024C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2385+6A>C701BUB1BUncertain significance-1RCV001871302; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050241740502417AC40502417-
NM_001211.6(BUB1B):c.2385+7C>T701BUB1BLikely benignrs779458273RCV000641246; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050241840502418CT15:g.40502418C>TClinGen:CA7476026C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2385+13C>G701BUB1BLikely benign-1RCV002156580; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050242440502424CG40502424-
NM_001211.6(BUB1B):c.2386-11A>G701BUB1BPathogenic; Affectsrs751421137RCV000023214|RCV000023213; NMONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050468940504689AG15:g.40504689A>GOMIM:602860.0013CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2386-6T>C701BUB1BLikely benign-1RCV001435329; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050469440504694TC40504694-
NM_001211.6(BUB1B):c.2386-4A>G701BUB1BLikely benign-1RCV002111183; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050469640504696AG40504696-
NM_001211.6(BUB1B):c.2386-2A>G701BUB1BLikely pathogenic-1RCV001377149; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050469840504698AG40504698-
NM_001211.6(BUB1B):c.2391T>C (p.Ser797=)701BUB1BLikely benign-1RCV001469242; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050470540504705TC40504705-
NM_001211.6(BUB1B):c.2391T>G (p.Ser797=)701BUB1BLikely benign-1RCV002200016; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050470540504705TG40504705-
NM_001211.6(BUB1B):c.2398C>T (p.Pro800Ser)701BUB1BUncertain significance-1RCV001864618; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050471240504712CT40504712-
NM_001211.6(BUB1B):c.2405C>T (p.Pro802Leu)701BUB1BUncertain significancers878854277RCV000227847|RCV001301454; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052154050471940504719CTNC_000015.9:g.40504719C>TClinGen:CA10583237CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2414T>C (p.Phe805Ser)701BUB1BUncertain significancers1060499948RCV000476337; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050472840504728TC15:g.40504728T>CClinGen:CA16614456CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2432T>C (p.Leu811Ser)701BUB1BUncertain significance-1RCV001926592; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050474640504746TC40504746-
NM_001211.6(BUB1B):c.2440C>G (p.Arg814Gly)701BUB1BUncertain significance-1RCV001966261; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050475440504754CG40504754-
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)701BUB1BConflicting interpretations of pathogenicityrs28989182RCV000007160|RCV000007161|RCV000641223; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052154050475540504755GA15:g.40504755G>AClinGen:CA118494,UniProtKB:O60566#VAR_028924,OMIM:602860.0007C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2448T>C (p.Asn816=)701BUB1BLikely benignrs1595534924RCV000945969|RCV001447867; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050476240504762TC15:g.40504762T>C-
NM_001211.6(BUB1B):c.2454T>C (p.Asp818=)701BUB1BLikely benignrs749203600RCV000550817|RCV001463443; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050476840504768TCNC_000015.9:g.40504768T>CClinGen:CA7476050C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2477A>G (p.Tyr826Cys)701BUB1BUncertain significance-1RCV001918882; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050479140504791AG40504791-
NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter)701BUB1BPathogenicrs2037728032RCV001232377; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050479240504792TG15:g.40504792T>G-
NM_001211.6(BUB1B):c.2481A>G (p.Gln827=)701BUB1BLikely benignrs76294284RCV000876771|RCV001482295; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050479540504795AG15:g.40504795A>G-
NM_001211.6(BUB1B):c.2506C>T (p.His836Tyr)701BUB1BUncertain significance-1RCV001359099; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050482040504820CT40504820-
NM_001211.6(BUB1B):c.2509C>A (p.Gln837Lys)701BUB1BUncertain significance-1RCV002006036; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050482340504823CA40504823-
NM_001211.6(BUB1B):c.2523C>T (p.Cys841=)701BUB1BBenignrs34999621RCV000250861|RCV000473499|RCV001610612; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154050483740504837CT15:g.40504837C>TClinGen:CA7476059C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)701BUB1BUncertain significancers28989181RCV000007154|RCV000007155; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430154050484440504844CT15:g.40504844C>TClinGen:CA118488,UniProtKB:O60566#VAR_028925,OMIM:602860.0004CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2534A>G (p.Gln845Arg)701BUB1BUncertain significance-1RCV002021741; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050484840504848AG40504848-
NM_001211.6(BUB1B):c.2535+8A>G701BUB1BLikely benign-1RCV002158021; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050485740504857AG40504857-
NM_001211.6(BUB1B):c.2535+10A>C701BUB1BLikely benignrs1197837468RCV000941951|RCV001400688; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050485940504859AC15:g.40504859A>C-
NM_001211.6(BUB1B):c.2535+15A>G701BUB1BLikely benign-1RCV002127078; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050486440504864AG40504864-
NM_001211.6(BUB1B):c.2535+16A>G701BUB1BLikely benign-1RCV002166076; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050486540504865AG40504865-
NM_001211.6(BUB1B):c.2535+19A>G701BUB1BLikely benign-1RCV002117762; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050486840504868AG40504868-
NM_001211.6(BUB1B):c.2536-9A>G701BUB1BLikely benign-1RCV002098589; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050552440505524AG40505524-
NM_001211.6(BUB1B):c.2566del (p.His856fs)701BUB1BPathogenicrs749762155RCV001232097; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050556140505561ACA15:g.40505561_40505561del-
NM_001211.6(BUB1B):c.2582T>G (p.Leu861Trp)701BUB1BUncertain significancers1566828619RCV000695132; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050557940505579TG15:g.40505579T>G-C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2628A>G (p.Ala876=)701BUB1BLikely benignrs768648860RCV000530047; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050562540505625AGNC_000015.9:g.40505625A>GClinGen:CA268758337C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2634A>C (p.Ile878=)701BUB1BLikely benign-1RCV001504067; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050563140505631AC40505631-
NM_001211.6(BUB1B):c.2636dup (p.His880fs)701BUB1BPathogenic-1RCV001730039|RCV001730040; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430154050563240505633GGT40505632-
NM_001211.6(BUB1B):c.2648T>C (p.Leu883Ser)701BUB1BUncertain significance-1RCV001980023; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050564540505645TC40505645-
NM_001211.6(BUB1B):c.2656A>G (p.Arg886Gly)701BUB1BUncertain significance-1RCV001891014; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050565340505653AG40505653-
NM_001211.6(BUB1B):c.2667T>C (p.Ile889=)701BUB1BLikely benignrs901161308RCV000469564; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050566440505664TCNC_000015.9:g.40505664T>CClinGen:CA16614598CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2673A>G (p.Arg891=)701BUB1BLikely benign-1RCV001426898; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050567040505670AG40505670-
NM_001211.6(BUB1B):c.2678+15T>G701BUB1BUncertain significance-1RCV001880504; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050569040505690TG40505690-
NM_001211.6(BUB1B):c.2679-97A>G701BUB1BBenignrs2290551RCV000989287|RCV001709700; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154050960040509600AG15:g.40509600A>G-
NM_001211.6(BUB1B):c.2679A>G (p.Arg893=)701BUB1BUncertain significance-1RCV001937622; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050969740509697AG40509697-
NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu)701BUB1BUncertain significancers747000103RCV000230606|RCV001316187; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052154050974740509747TANC_000015.9:g.40509747T>AClinGen:CA7476110CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val)701BUB1BUncertain significance-1RCV001753231|RCV001868723; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050977040509770CG40509770-
NM_001211.6(BUB1B):c.2760G>C (p.Val920=)701BUB1BLikely benign-1RCV001395272; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050977840509778GC40509778-
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)701BUB1BUncertain significancers28989183RCV000007156|RCV000007157|RCV000540349|RCV001552489; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052|MedGen:CN517202154050978140509781GC15:g.40509781G>CClinGen:CA118491,UniProtKB:O60566#VAR_028927,OMIM:602860.0005C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr)701BUB1BUncertain significancers950826338RCV001236513; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050980140509801GC15:g.40509801G>C-
NM_001211.6(BUB1B):c.2784C>T (p.Ser928=)701BUB1BLikely benignrs139066741RCV000555231; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050980240509802CTNC_000015.9:g.40509802C>TClinGen:CA7476122C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser)701BUB1BUncertain significancers143232848RCV000463687|RCV000733229|RCV001252831; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:000154050980340509803GANC_000015.9:g.40509803G>AClinGen:CA7476124CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2799A>G (p.Val933=)701BUB1BLikely benignrs755014372RCV000940701|RCV001480527; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050981740509817AG15:g.40509817A>G-
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg)701BUB1BUncertain significancers781299320RCV000465135; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050981940509819AGNC_000015.9:g.40509819A>GClinGen:CA7476128CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro)701BUB1BUncertain significance-1RCV001876711; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050982540509825TC40509825-
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly)701BUB1BUncertain significance-1RCV001360390; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050982840509828AG40509828-
NM_001211.6(BUB1B):c.2817A>G (p.Gln939=)701BUB1BLikely benign-1RCV002148878; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050983540509835AG40509835-
NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg)701BUB1BLikely benign-1RCV001434880; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050986740509867AG40509867-
NM_001211.6(BUB1B):c.2850+9A>G701BUB1BLikely benign-1RCV001468796; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154050987740509877AG40509877-
NM_001211.6(BUB1B):c.2851-17G>A701BUB1BBenign-1RCV002146684; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051064040510640GA40510640-
NM_001211.6(BUB1B):c.2851-16C>T701BUB1BLikely benign-1RCV002109322; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051064140510641CT40510641-
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His)701BUB1BUncertain significance-1RCV001929810; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051066040510660GC40510660-
NM_001211.6(BUB1B):c.2856C>T (p.Asp952=)701BUB1BBenignrs1802286RCV000210533|RCV000246993|RCV001640328; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN169374|MedGen:CN517202154051066240510662CTNC_000015.9:g.40510662C>TClinGen:CA356475C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2857C>T (p.Leu953=)701BUB1BLikely benign-1RCV001464833; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051066340510663CT40510663-
NM_001211.6(BUB1B):c.2862T>C (p.Phe954=)701BUB1BLikely benign-1RCV002208511; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051066840510668TC40510668-
NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter)701BUB1BPathogenic-1RCV001932431; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051068240510682TG40510682-
NM_001211.6(BUB1B):c.2889A>G (p.Leu963=)701BUB1BLikely benignrs768869879RCV000876648; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051069540510695AG15:g.40510695A>G-
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter)701BUB1BUncertain significancers1191638586RCV000641233; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051073940510739GANC_000015.9:g.40510739G>AClinGen:CA391688360C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu)701BUB1BUncertain significance-1RCV001946380; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051073940510739GT40510739-
NM_001211.6(BUB1B):c.2957+8T>C701BUB1BLikely benign-1RCV002098623; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051077140510771TC40510771-
NM_001211.6(BUB1B):c.2957+16T>C701BUB1BLikely benign-1RCV002122435; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051077940510779TC40510779-
NM_001211.6(BUB1B):c.2957+17G>A701BUB1BLikely benign-1RCV002145519; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051078040510780GA40510780-
NM_001211.6(BUB1B):c.2958-13dup701BUB1BBenign-1RCV002205184; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051274840512749GGT40512748-
NM_001211.6(BUB1B):c.2958-10A>G701BUB1BLikely benignrs759331631RCV000873458|RCV001409449; NMedGen:CN517202|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051275540512755AG15:g.40512755A>G-
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu)701BUB1BUncertain significance-1RCV001368899; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051276940512769AG40512769-
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys)701BUB1BUncertain significancers1060499945RCV000466079; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051278640512786GTNC_000015.9:g.40512786G>TClinGen:CA16614362CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2994G>A (p.Val998=)701BUB1BLikely benign-1RCV001438914; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051280140512801GA40512801-
NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln)701BUB1BUncertain significancers377612791RCV000533586; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051280340512803GA15:g.40512803G>AClinGen:CA7476180C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2997G>A (p.Arg999=)701BUB1BLikely benign-1RCV001453298; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051280440512804GA40512804-
NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser)701BUB1BBenign/Likely benignrs34998711RCV000120423|RCV000457975|RCV001560420; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154051281840512818AG15:g.40512818A>GClinGen:CA157768C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=)701BUB1BLikely benign-1RCV002115334; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051283140512831AG40512831-
NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro)701BUB1BUncertain significance-1RCV001946423; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051283540512835TC40512835-
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)701BUB1BUncertain significancers28989185RCV000007162|RCV000007163|RCV001225193; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052154051284240512842TC15:g.40512842T>CClinGen:CA118497,UniProtKB:O60566#VAR_028928,OMIM:602860.0008CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr)701BUB1BUncertain significance-1RCV001982361; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051285640512856GA40512856-
NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile)701BUB1BUncertain significance-1RCV001895666; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051288140512881CT40512881-
NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=)701BUB1BUncertain significance-1RCV001371344; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051289140512891AG40512891-
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)701BUB1BConflicting interpretations of pathogenicityrs34700927RCV001294084|RCV001357136|RCV001764363; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500154051290140512901ACNC_000015.9:g.40512901A>CClinGen:CA7476195C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=)701BUB1BBenignrs35611758RCV000251949|RCV000471759|RCV001689822; NMedGen:CN169374|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052|MedGen:CN517202154051290640512906AGNC_000015.9:g.40512906A>GClinGen:CA7476196C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=)701BUB1BLikely benignrs576684184RCV000869735; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051291240512912AG15:g.40512912A>G-
NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe)701BUB1BUncertain significance-1RCV001870171; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051291240512912AC40512912-
NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala)701BUB1BUncertain significance-1RCV001366474; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051292040512920TC40512920-
NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg)701BUB1BUncertain significance-1RCV001369931; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051294040512940GC40512940-
NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser)701BUB1BUncertain significance-1RCV001902300; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051295340512953TC40512953-
NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=)701BUB1BLikely benignrs376467292RCV000867940; NMONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052154051295440512954TC15:g.40512954T>C-
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)9702CEP57Pathogenicrs1166323407RCV000023669|RCV000656492; NMONDO:MONDO:0013582,MedGen:C3279843,OMIM:614114, Orphanet:1052|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052119556097995560989TTAGCCAATGTTCNC_000011.9:g.95560979_95560989dupClinGen:CA129399,OMIM:607951.0002CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
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