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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Chromosome Disorders (D025063)
..Starting node ..Mosaic variegated aneuploidy syndrome (C536987)
Child Nodes:
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1-Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Potocki-Lupski syndrome (C538355)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 13 Syndrome (D000073839)
..Trisomy 18 Syndrome (D000073842)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-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:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: C536987
MeSH: C536987
OMIM: 257300;
MSeqDR :
Genes: BUB1B; CEP57; TYRP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001274	Agenesis of corpus callosum
3	HP:0000062	Ambiguous genitalia
4	HP:0000463	Anteverted nares
5	HP:0000048	Bifid scrotum
6	HP:0000248	Brachycephaly
7	HP:0000518	Cataract NAMDC: Cataracts
8	HP:0001321	Cerebellar hypoplasia
9	HP:0006872	Cerebral hypoplasia
10	HP:0000175	Cleft palate
11	HP:0005387	Combined immunodeficiency
12	HP:0000028	Cryptorchidism
13	HP:0001305	Dandy-Walker malformation
14	HP:0005280	Depressed nasal bridge
15	HP:0000286	Epicanthus
16	HP:0008872	Feeding difficulties in infancy
17	HP:0001290	Generalized hypotonia
18	HP:0002123	Generalized myoclonic seizures
19	HP:0002069	Generalized tonic-clonic seizures
20	HP:0000348	High forehead
21	HP:0000238	Hydrocephalus
22	HP:0000316	Hypertelorism
23	HP:0006849	Hypodysplasia of the corpus callosum
24	HP:0000047	Hypospadias
25	HP:0002187	Intellectual disability, profound
26	HP:0001511	Intrauterine growth retardation
27	HP:0001909	Leukemia
28	HP:0000343	Long philtrum
29	HP:0000369	Low-set ears
30	HP:0000272	Malar flattening
31	HP:0000252	Microcephaly
32	HP:0000347	Micrognathia
33	HP:0000054	Micropenis
34	HP:0011800	Midface retrusion
35	HP:0002667	Nephroblastoma
36	HP:0000639	Nystagmus
37	HP:0001562	Oligohydramnios
38	HP:0003812	Phenotypic variability
39	HP:0000358	Posteriorly rotated ears
40	HP:0008897	Postnatal growth retardation
41	HP:0200024	Premature chromatid separation
42	HP:0000107	Renal cyst
43	HP:0002859	Rhabdomyosarcoma
44	HP:0011344	Severe global developmental delay
45	HP:0000470	Short neck
46	HP:0003196	Short nose
47	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
48	HP:0000879	Short sternum
49	HP:0001518	Small for gestational age
50	HP:0000207	Triangular mouth
51	HP:0000582	Upslanted palpebral fissure
52	HP:0002119	Ventriculomegaly
53	HP:0000445	Wide nose

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_000015.9:g.(?_40409289)_(40512960_?)dup	701	BUB1B	Uncertain significance	-1	RCV002002590;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40409289	40512960	na	na	-1	-
NC_000015.9:g.(?_40453422)_(40512960_?)dup	701	BUB1B	Uncertain significance	-1	RCV001940061;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40453422	40512960	na	na	-1	-
NM_001211.6(BUB1B):c.9G>T (p.Ala3=)	701	BUB1B	Benign	rs7168394	RCV000246516\|RCV000459103\|RCV001651155;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40453430	40453430	G	T	NC_000015.9:g.40453430G>T	ClinGen:CA7475313	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.10G>A (p.Val4Met)	701	BUB1B	Likely benign	rs147549987	RCV000120414\|RCV000475422;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40453431	40453431	G	A	15:g.40453431G>A	ClinGen:CA157741	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.15G>A (p.Lys5=)	701	BUB1B	Likely benign	rs374433718	RCV000867841;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40453436	40453436	G	A	15:g.40453436G>A	-
NM_001211.6(BUB1B):c.21A>C (p.Glu7Asp)	701	BUB1B	Uncertain significance	-1	RCV001938682;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40453442	40453442	A	C	40453442	-
NM_001211.6(BUB1B):c.26G>T (p.Gly9Val)	701	BUB1B	Uncertain significance	-1	RCV001911639;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40453447	40453447	G	T	40453447	-
NM_001211.6(BUB1B):c.35+9G>A	701	BUB1B	Likely benign	rs762785947	RCV000949455;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40453465	40453465	G	A	15:g.40453465G>A	-
NM_001211.6(BUB1B):c.36-13dup	701	BUB1B	Benign	rs150031754	RCV000243966\|RCV001689823\|RCV002057992;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457238	40457239	G	GT	15:g.40457238_40457239insT	ClinGen:CA7475335	CN169374 not specified;
NM_001211.6(BUB1B):c.36-14_36-13insG	701	BUB1B	Likely benign	-1	RCV002186857;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457240	40457241	T	TG	40457240	-
NC_000015.9:g.(?_40457244)_(40457407_?)dup	701	BUB1B	Uncertain significance	-1	RCV001881801;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457244	40457407	na	na	-1	-
NM_001211.6(BUB1B):c.36-8C>T	701	BUB1B	Likely benign	-1	RCV002086693;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457246	40457246	C	T	40457246	-
NM_001211.6(BUB1B):c.44T>C (p.Met15Thr)	701	BUB1B	Uncertain significance	rs1392369693	RCV001244388;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457262	40457262	T	C	15:g.40457262T>C	-
NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe)	701	BUB1B	Uncertain significance	rs1364339094	RCV001067637;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457265	40457265	C	T	15:g.40457265C>T	-
NM_001211.6(BUB1B):c.60T>C (p.Asp20=)	701	BUB1B	Likely benign	-1	RCV001479495;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457278	40457278	T	C	40457278	-
NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln)	701	BUB1B	Uncertain significance	-1	RCV001884665;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457325	40457325	G	A	40457325	-
NM_001211.6(BUB1B):c.114G>C (p.Met38Ile)	701	BUB1B	Uncertain significance	-1	RCV001987091;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457332	40457332	G	C	40457332	-
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)	701	BUB1B	Benign	rs56079734	RCV000007150\|RCV000120422\|RCV000989284\|RCV001594817;	N	MONDO:MONDO:0002032,MedGen:C0699790\|MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40457337	40457337	C	T	15:g.40457337C>T	ClinGen:CA157765,UniProtKB:O60566#VAR_040402,OMIM:602860.0001	C0699790 114500 Carcinoma of colon;
NM_001211.6(BUB1B):c.120G>A (p.Thr40=)	701	BUB1B	Likely benign	-1	RCV002170002;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457338	40457338	G	A	40457338	-
NM_001211.6(BUB1B):c.132A>G (p.Ala44=)	701	BUB1B	Likely benign	-1	RCV002182816;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457350	40457350	A	G	40457350	-
NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly)	701	BUB1B	Uncertain significance	-1	RCV001986273;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457355	40457355	C	G	40457355	-
NM_001211.6(BUB1B):c.156C>T (p.Asn52=)	701	BUB1B	Likely benign	rs1214786359	RCV000908522\|RCV001399286;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457374	40457374	C	T	15:g.40457374C>T	-
NM_001211.6(BUB1B):c.164T>C (p.Leu55Pro)	701	BUB1B	Uncertain significance	-1	RCV001870938;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457382	40457382	T	C	40457382	-
NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter)	701	BUB1B	Pathogenic	-1	RCV001881383;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457387	40457387	C	T	40457387	-
NM_001211.6(BUB1B):c.171G>A (p.Gln57=)	701	BUB1B	Likely benign	rs777530306	RCV000887650\|RCV001500960;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457389	40457389	G	A	15:g.40457389G>A	-
NM_001211.6(BUB1B):c.172C>A (p.Gln58Lys)	701	BUB1B	Uncertain significance	-1	RCV001962458;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457390	40457390	C	A	40457390	-
NM_001211.6(BUB1B):c.179+15T>C	701	BUB1B	Likely benign	-1	RCV002164561;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40457412	40457412	T	C	40457412	-
NM_001211.6(BUB1B):c.180-7A>G	701	BUB1B	Likely benign	-1	RCV001490861;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462256	40462256	A	G	40462256	-
NM_001211.6(BUB1B):c.180-3C>T	701	BUB1B	Benign	rs200483866	RCV000476797;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462260	40462260	C	T	NC_000015.9:g.40462260C>T	ClinGen:CA7475403	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.199C>T (p.Arg67Ter)	701	BUB1B	Pathogenic	-1	RCV001990050;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462282	40462282	C	T	40462282	-
NM_001211.6(BUB1B):c.200G>A (p.Arg67Gln)	701	BUB1B	Uncertain significance	-1	RCV001935018;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462283	40462283	G	A	40462283	-
NM_001211.6(BUB1B):c.218A>G (p.Asp73Gly)	701	BUB1B	Uncertain significance	-1	RCV001961860;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462301	40462301	A	G	40462301	-
NM_001211.6(BUB1B):c.240-11C>T	701	BUB1B	Likely benign	-1	RCV002107673;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462727	40462727	C	T	40462727	-
NM_001211.6(BUB1B):c.240-8C>T	701	BUB1B	Likely benign	-1	RCV002163530;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462730	40462730	C	T	40462730	-
NM_001211.6(BUB1B):c.244A>G (p.Ile82Val)	701	BUB1B	Uncertain significance	-1	RCV001934153;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462742	40462742	A	G	40462742	-
NM_001211.6(BUB1B):c.247A>C (p.Ser83Arg)	701	BUB1B	Uncertain significance	-1	RCV001909664;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462745	40462745	A	C	40462745	-
NM_001211.6(BUB1B):c.255A>G (p.Thr85=)	701	BUB1B	Likely benign	rs140273483	RCV000539555;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462753	40462753	A	G	15:g.40462753A>G	ClinGen:CA7475437	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.256G>A (p.Glu86Lys)	701	BUB1B	Uncertain significance	rs2037149727	RCV001236478;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462754	40462754	G	A	15:g.40462754G>A	-
NM_001211.6(BUB1B):c.273A>T (p.Gln91His)	701	BUB1B	Uncertain significance	rs751056896	RCV000476985;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462771	40462771	A	T	NC_000015.9:g.40462771A>T	ClinGen:CA7475441	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.282G>A (p.Lys94=)	701	BUB1B	Benign	rs1801389	RCV000242008\|RCV001521285\|RCV001610613;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40462780	40462780	G	A	15:g.40462780G>A	ClinGen:CA7475443	CN169374 not specified;
NM_001211.6(BUB1B):c.286A>G (p.Ser96Gly)	701	BUB1B	Uncertain significance	-1	RCV002038780;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462784	40462784	A	G	40462784	-
NM_001211.6(BUB1B):c.303A>G (p.Leu101=)	701	BUB1B	Likely benign	-1	RCV002181042;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462801	40462801	A	G	40462801	-
NM_001211.6(BUB1B):c.310A>G (p.Arg104Gly)	701	BUB1B	Uncertain significance	rs2037150605	RCV001042361;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462808	40462808	A	G	15:g.40462808A>G	-
NM_001211.6(BUB1B):c.330A>G (p.Gln110=)	701	BUB1B	Likely benign	-1	RCV002170688;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462828	40462828	A	G	40462828	-
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)	701	BUB1B	Pathogenic	rs769350713	RCV000500457;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462838	40462838	C	T	NC_000015.9:g.40462838C>T	ClinGen:CA7475454	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.341G>A (p.Arg114Gln)	701	BUB1B	Uncertain significance	-1	RCV001985571;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462839	40462839	G	A	40462839	-
NM_001211.6(BUB1B):c.343T>C (p.Tyr115His)	701	BUB1B	Uncertain significance	rs748512524	RCV001051130;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462841	40462841	T	C	15:g.40462841T>C	-
NM_001211.6(BUB1B):c.348T>C (p.Tyr116=)	701	BUB1B	Benign/Likely benign	rs28989189	RCV000233407\|RCV000503823\|RCV001576318;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN169374\|MedGen:CN517202	15	40462846	40462846	T	C	NC_000015.9:g.40462846T>C	ClinGen:CA7475458	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter)	701	BUB1B	Pathogenic	rs2037151440	RCV001055671;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462856	40462856	C	T	15:g.40462856C>T	-
NM_001211.6(BUB1B):c.384+6T>A	701	BUB1B	Uncertain significance	-1	RCV001939156;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462888	40462888	T	A	40462888	-
NM_001211.6(BUB1B):c.384+9_384+12del	701	BUB1B	Likely benign	-1	RCV002177422;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40462888	40462891	GTCTT	G	40462887	-
NM_001211.6(BUB1B):c.385-2460_385-2453dup	701	BUB1B	Benign	rs979967281	RCV000989285;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40466217	40466218	C	CAAAAAAAA	15:g.40466217_40466218insAAAAAAAA	-
NM_001211.6(BUB1B):c.385-7G>C	701	BUB1B	Likely benign	-1	RCV001497679;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468671	40468671	G	C	40468671	-
NM_001211.6(BUB1B):c.387G>T (p.Gly129=)	701	BUB1B	Likely benign	-1	RCV001426413;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468680	40468680	G	T	40468680	-
NM_001211.6(BUB1B):c.422dup (p.Tyr141Ter)	701	BUB1B	Pathogenic	-1	RCV001387142;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468714	40468715	T	TA	40468714	-
NM_001211.6(BUB1B):c.430A>G (p.Asn144Asp)	701	BUB1B	Uncertain significance	-1	RCV001916872;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468723	40468723	A	G	40468723	-
NM_001211.6(BUB1B):c.451C>T (p.Leu151Phe)	701	BUB1B	Uncertain significance	-1	RCV001879206;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468744	40468744	C	T	40468744	-
NM_001211.6(BUB1B):c.451C>G (p.Leu151Val)	701	BUB1B	Uncertain significance	-1	RCV001877328;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468744	40468744	C	G	40468744	-
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)	701	BUB1B	Uncertain significance	-1	RCV001362862;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468751	40468751	A	T	40468751	-
NM_001211.6(BUB1B):c.463T>C (p.Tyr155His)	701	BUB1B	Uncertain significance	-1	RCV002005667;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468756	40468756	T	C	40468756	-
NM_001211.6(BUB1B):c.466A>G (p.Ile156Val)	701	BUB1B	Uncertain significance	rs546538543	RCV001213151;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468759	40468759	A	G	15:g.40468759A>G	-
NM_001211.6(BUB1B):c.470C>T (p.Ser157Leu)	701	BUB1B	Uncertain significance	-1	RCV001906928;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468763	40468763	C	T	40468763	-
NM_001211.6(BUB1B):c.483A>T (p.Glu161Asp)	701	BUB1B	Uncertain significance	-1	RCV002020517;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468776	40468776	A	T	40468776	-
NM_001211.6(BUB1B):c.485A>G (p.Tyr162Cys)	701	BUB1B	Uncertain significance	-1	RCV001937101;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468778	40468778	A	G	40468778	-
NM_001211.6(BUB1B):c.495A>G (p.Arg165=)	701	BUB1B	Likely benign	-1	RCV001437110;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468788	40468788	A	G	40468788	-
NM_001211.6(BUB1B):c.505A>G (p.Arg169Gly)	701	BUB1B	Uncertain significance	-1	RCV001369363;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468798	40468798	A	G	40468798	-
NM_001211.6(BUB1B):c.518C>T (p.Ala173Val)	701	BUB1B	Uncertain significance	rs552380700	RCV001060520;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468811	40468811	C	T	15:g.40468811C>T	-
NM_001211.6(BUB1B):c.540A>G (p.Gln180=)	701	BUB1B	Likely benign	rs1595514520	RCV000930820\|RCV001429644;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468833	40468833	A	G	15:g.40468833A>G	-
NM_001211.6(BUB1B):c.547G>A (p.Ala183Thr)	701	BUB1B	Uncertain significance	rs1442788795	RCV001037076;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468840	40468840	G	A	15:g.40468840G>A	-
NM_001211.6(BUB1B):c.547G>C (p.Ala183Pro)	701	BUB1B	Uncertain significance	-1	RCV002032931;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468840	40468840	G	C	40468840	-
NM_001211.6(BUB1B):c.555A>G (p.Pro185=)	701	BUB1B	Benign	rs139794931	RCV000870471;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468848	40468848	A	G	15:g.40468848A>G	-
NM_001211.6(BUB1B):c.567A>G (p.Leu189=)	701	BUB1B	Likely benign	-1	RCV001490435;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468860	40468860	A	G	40468860	-
NM_001211.6(BUB1B):c.573C>A (p.Ser191=)	701	BUB1B	Benign	rs138809057	RCV000558456\|RCV001528523;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40468866	40468866	C	A	15:g.40468866C>A	ClinGen:CA7475505	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.578del (p.His193fs)	701	BUB1B	Pathogenic	rs1179465577	RCV001218336;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468871	40468871	CA	C	15:g.40468871_40468871del	-
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter)	701	BUB1B	Pathogenic	rs28989186	RCV000007152\|RCV000007153;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430	15	40468873	40468873	C	T	15:g.40468873C>T	ClinGen:CA118485,OMIM:602860.0003	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.581+1G>T	701	BUB1B	Likely pathogenic	-1	RCV002014132;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40468875	40468875	G	T	40468875	-
NM_001211.6(BUB1B):c.582-14T>A	701	BUB1B	Likely benign	-1	RCV002155466;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475901	40475901	T	A	40475901	-
NC_000015.10:g.(?_40183704)_(40185652_?)del	701	BUB1B	Uncertain significance	-1	RCV001031520\|RCV001374002;	N	MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475905	40477853	na	na	-1	-
NM_001211.6(BUB1B):c.582-3T>C	701	BUB1B	Uncertain significance	-1	RCV001926884;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475912	40475912	T	C	40475912	-
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)	701	BUB1B	Likely benign	rs1595518738	RCV000989286;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475918	40475918	A	G	15:g.40475918A>G	-
NM_001211.6(BUB1B):c.591A>G (p.Gln197=)	701	BUB1B	Likely benign	-1	RCV002194662;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475924	40475924	A	G	40475924	-
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter)	701	BUB1B	Pathogenic	rs1403423766	RCV001209103;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475928	40475928	C	T	15:g.40475928C>T	-
NM_001211.6(BUB1B):c.596G>A (p.Arg199Gln)	701	BUB1B	Uncertain significance	-1	RCV001973668;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475929	40475929	G	A	40475929	-
NM_001211.6(BUB1B):c.605G>A (p.Arg202Gln)	701	BUB1B	Uncertain significance	rs768417752	RCV000468964;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475938	40475938	G	A	NC_000015.9:g.40475938G>A	ClinGen:CA7475523	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.627G>A (p.Glu209=)	701	BUB1B	Likely benign	-1	RCV001392276;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475960	40475960	G	A	40475960	-
NM_001211.6(BUB1B):c.630AGA[2] (p.Glu215del)	701	BUB1B	Uncertain significance	-1	RCV001967641;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475962	40475964	AAAG	A	40475961	-
NM_001211.6(BUB1B):c.631G>C (p.Glu211Gln)	701	BUB1B	Uncertain significance	rs1566819827	RCV000690896;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475964	40475964	G	C	NC_000015.9:g.40475964G>C	-	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.636A>G (p.Glu212=)	701	BUB1B	Likely benign	-1	RCV002108182;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475969	40475969	A	G	40475969	-
NM_001211.6(BUB1B):c.647T>G (p.Val216Gly)	701	BUB1B	Uncertain significance	-1	RCV001865109;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475980	40475980	T	G	40475980	-
NM_001211.6(BUB1B):c.650T>A (p.Phe217Tyr)	701	BUB1B	Uncertain significance	-1	RCV001365287;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475983	40475983	T	A	40475983	-
NM_001211.6(BUB1B):c.655T>C (p.Ser219Pro)	701	BUB1B	Uncertain significance	rs893191577	RCV001292657;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475988	40475988	T	C	40475988	-
NM_001211.6(BUB1B):c.663A>G (p.Val221=)	701	BUB1B	Likely benign	rs774346563	RCV000951745;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40475996	40475996	A	G	15:g.40475996A>G	-
NM_001211.6(BUB1B):c.669A>G (p.Gln223=)	701	BUB1B	Uncertain significance	-1	RCV001881411;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476002	40476002	A	G	40476002	-
NM_001211.6(BUB1B):c.671G>A (p.Arg224Gln)	701	BUB1B	Uncertain significance	-1	RCV001927611;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476004	40476004	G	A	40476004	-
NM_001211.6(BUB1B):c.678A>G (p.Thr226=)	701	BUB1B	Likely benign	rs142284213	RCV000868500\|RCV001477632;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476011	40476011	A	G	15:g.40476011A>G	-
NM_001211.6(BUB1B):c.679C>T (p.Leu227=)	701	BUB1B	Likely benign	-1	RCV001457051;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476012	40476012	C	T	40476012	-
NM_001211.6(BUB1B):c.693_694insTT (p.Ser232fs)	701	BUB1B	Pathogenic	-1	RCV001388465;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476026	40476027	G	GTT	40476026	-
NM_001211.6(BUB1B):c.699A>C (p.Lys233Asn)	701	BUB1B	Uncertain significance	-1	RCV001371609;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476032	40476032	A	C	40476032	-
NM_001211.6(BUB1B):c.709_712del (p.Thr237fs)	701	BUB1B	Pathogenic	rs992789522	RCV001053809;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476040	40476043	AAGAC	A	15:g.40476040_40476043del	-
NM_001211.6(BUB1B):c.730C>T (p.Arg244Cys)	701	BUB1B	Uncertain significance	-1	RCV001898079;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476063	40476063	C	T	40476063	-
NM_001211.6(BUB1B):c.732T>A (p.Arg244=)	701	BUB1B	Likely benign	-1	RCV001464351;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476065	40476065	T	A	40476065	-
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)	701	BUB1B	Uncertain significance	rs1407334063	RCV000641230\|RCV000763964;	N	MONDO: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:1052	15	40476070	40476070	G	A	15:g.40476070G>A	ClinGen:CA391683499	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.751+4A>G	701	BUB1B	Uncertain significance	rs1248348421	RCV000821458;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476088	40476088	A	G	15:g.40476088A>G	-
NM_001211.6(BUB1B):c.751+9G>A	701	BUB1B	Likely benign	rs372133651	RCV000474062\|RCV002063670;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476093	40476093	G	A	NC_000015.9:g.40476093G>A	ClinGen:CA7475549	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.751+9G>C	701	BUB1B	Likely benign	rs372133651	RCV000902387\|RCV001408674;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476093	40476093	G	C	15:g.40476093G>C	-
NM_001211.6(BUB1B):c.751+12A>C	701	BUB1B	Likely benign	-1	RCV002207222;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476096	40476096	A	C	40476096	-
NM_001211.6(BUB1B):c.751+15C>T	701	BUB1B	Benign	-1	RCV002142669;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40476099	40476099	C	T	40476099	-
NM_001211.6(BUB1B):c.752-13T>C	701	BUB1B	Likely benign	-1	RCV002216003;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477353	40477353	T	C	40477353	-
NM_001211.6(BUB1B):c.752-6T>C	701	BUB1B	Likely benign	-1	RCV001497543;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477360	40477360	T	C	40477360	-
NM_001211.6(BUB1B):c.752-5C>T	701	BUB1B	Likely benign	-1	RCV002081642;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477361	40477361	C	T	40477361	-
NM_001211.6(BUB1B):c.772C>T (p.Leu258Phe)	701	BUB1B	Likely benign	rs146387899	RCV000471425;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477386	40477386	C	T	NC_000015.9:g.40477386C>T	ClinGen:CA7475570	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.797T>G (p.Met266Arg)	701	BUB1B	Uncertain significance	-1	RCV001875677;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477411	40477411	T	G	40477411	-
NM_001211.6(BUB1B):c.799C>T (p.Gln267Ter)	701	BUB1B	Pathogenic	-1	RCV001383289;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477413	40477413	C	T	40477413	-
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)	701	BUB1B	Conflicting interpretations of pathogenicity	rs148159407	RCV000120428\|RCV000458505\|RCV000763965;	N	MedGen: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	15	40477419	40477419	A	G	15:g.40477419A>G	ClinGen:CA157783	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.814A>G (p.Ile272Val)	701	BUB1B	Uncertain significance	-1	RCV001925704;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477428	40477428	A	G	40477428	-
NM_001211.6(BUB1B):c.827A>G (p.Asp276Gly)	701	BUB1B	Uncertain significance	-1	RCV001969824;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477441	40477441	A	G	40477441	-
NM_001211.6(BUB1B):c.843G>C (p.Glu281Asp)	701	BUB1B	Uncertain significance	-1	RCV001955948;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477457	40477457	G	C	40477457	-
NM_001211.6(BUB1B):c.846T>G (p.Ala282=)	701	BUB1B	Likely benign	rs773703818	RCV000864939;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477460	40477460	T	G	15:g.40477460T>G	-
NM_001211.6(BUB1B):c.850A>G (p.Thr284Ala)	701	BUB1B	Uncertain significance	-1	RCV002036061;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477464	40477464	A	G	40477464	-
NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly)	701	BUB1B	Uncertain significance	rs2037345499	RCV001331827;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477471	40477471	A	G	40477471	-
NM_001211.6(BUB1B):c.862T>C (p.Ser288Pro)	701	BUB1B	Uncertain significance	-1	RCV001928201;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477476	40477476	T	C	40477476	-
NM_001211.6(BUB1B):c.877C>T (p.Gln293Ter)	701	BUB1B	Pathogenic	-1	RCV002000022;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477491	40477491	C	T	40477491	-
NM_001211.6(BUB1B):c.882A>C (p.Pro294=)	701	BUB1B	Likely benign	-1	RCV002207264;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477496	40477496	A	C	40477496	-
NM_001211.6(BUB1B):c.889G>A (p.Ala297Thr)	701	BUB1B	Uncertain significance	-1	RCV001936767;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477503	40477503	G	A	40477503	-
NM_001211.6(BUB1B):c.892C>T (p.Pro298Ser)	701	BUB1B	Uncertain significance	rs756759220	RCV000641240;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477506	40477506	C	T	15:g.40477506C>T	ClinGen:CA7475589	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.897C>G (p.Pro299=)	701	BUB1B	Likely benign	rs374307209	RCV000534853;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477511	40477511	C	G	15:g.40477511C>G	ClinGen:CA7475591	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.903C>T (p.Pro301=)	701	BUB1B	Likely benign	-1	RCV002199824;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477517	40477517	C	T	40477517	-
NM_001211.6(BUB1B):c.911A>G (p.Lys304Arg)	701	BUB1B	Uncertain significance	-1	RCV002010238;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477525	40477525	A	G	40477525	-
NM_001211.6(BUB1B):c.917A>G (p.Asn306Ser)	701	BUB1B	Uncertain significance	-1	RCV001891221;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477531	40477531	A	G	40477531	-
NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter)	701	BUB1B	Pathogenic	rs2037346846	RCV001059973;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477539	40477539	C	T	15:g.40477539C>T	-
NM_001211.6(BUB1B):c.950G>A (p.Arg317Lys)	701	BUB1B	Uncertain significance	-1	RCV001989393;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477564	40477564	G	A	40477564	-
NM_001211.6(BUB1B):c.954C>A (p.Ser318=)	701	BUB1B	Uncertain significance	-1	RCV001987641;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477568	40477568	C	A	40477568	-
NM_001211.6(BUB1B):c.966+7A>C	701	BUB1B	Likely benign	-1	RCV002086770;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477587	40477587	A	C	40477587	-
NM_001211.6(BUB1B):c.966+14G>C	701	BUB1B	Likely benign	-1	RCV002112403;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477594	40477594	G	C	40477594	-
NM_001211.6(BUB1B):c.967-17TTC[2]	701	BUB1B	Uncertain significance	-1	RCV001919502;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477735	40477737	TTTC	T	40477734	-
NM_001211.6(BUB1B):c.967-8A>C	701	BUB1B	Likely benign	-1	RCV001401753;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477744	40477744	A	C	40477744	-
NM_001211.6(BUB1B):c.967-4C>G	701	BUB1B	Likely benign	rs1199649373	RCV000868760;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477748	40477748	C	G	15:g.40477748C>G	-
NM_001211.6(BUB1B):c.967-2A>T	701	BUB1B	Likely pathogenic	rs2037350060	RCV001070312;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477750	40477750	A	T	15:g.40477750A>T	-
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)	701	BUB1B	Conflicting interpretations of pathogenicity	rs141953425	RCV000120430\|RCV000472793\|RCV000763966\|RCV001543132\|RCV001762250\|RCV001762251;	N	MedGen: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:C4	15	40477786	40477786	C	T	15:g.40477786C>T	ClinGen:CA157787	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1003G>A (p.Ala335Thr)	701	BUB1B	Uncertain significance	rs145184714	RCV001207868;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477788	40477788	G	A	15:g.40477788G>A	-
NM_001211.6(BUB1B):c.1004C>G (p.Ala335Gly)	701	BUB1B	Uncertain significance	-1	RCV001955990;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477789	40477789	C	G	40477789	-
NM_001211.6(BUB1B):c.1008G>A (p.Val336=)	701	BUB1B	Likely benign	rs765922572	RCV000874929;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477793	40477793	G	A	15:g.40477793G>A	-
NM_001211.6(BUB1B):c.1038G>A (p.Glu346=)	701	BUB1B	Likely benign	-1	RCV001502294;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477823	40477823	G	A	40477823	-
NM_001211.6(BUB1B):c.1045del (p.Arg349fs)	701	BUB1B	Pathogenic	-1	RCV001775445;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477830	40477830	AC	A	40477829	-
NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln)	701	BUB1B	Benign	rs1801376	RCV000120431\|RCV001510398;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477831	40477831	G	A	15:g.40477831G>A	ClinGen:CA157790	CN169374 not specified;
NM_001211.6(BUB1B):c.1046= (p.Arg349=)	701	BUB1B	Benign	rs1801376	RCV000210495;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477831	40477831	G	G	NC_000015.9:g.40477831%3D	ClinGen:CA356452	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1058+8_1058+9del	701	BUB1B	Likely benign	-1	RCV001494278;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477848	40477849	AGT	A	40477847	-
NM_001211.6(BUB1B):c.1058+7G>T	701	BUB1B	Likely benign	rs904070234	RCV000861473\|RCV002064433;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477850	40477850	G	T	15:g.40477850G>T	-
NM_001211.6(BUB1B):c.1058+9G>A	701	BUB1B	Likely benign	-1	RCV001477243;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477852	40477852	G	A	40477852	-
NM_001211.6(BUB1B):c.1058+11T>G	701	BUB1B	Likely benign	-1	RCV002146072;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40477854	40477854	T	G	40477854	-
NM_001211.6(BUB1B):c.1059-10G>A	701	BUB1B	Likely benign	rs200485522	RCV000873197;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488736	40488736	G	A	15:g.40488736G>A	-
NM_001211.6(BUB1B):c.1059-7del	701	BUB1B	Likely benign	rs770579508	RCV000641243;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488738	40488738	CT	C	15:g.40488738_40488738del	ClinGen:CA7475655	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1071A>G (p.Lys357=)	701	BUB1B	Likely benign	rs1595526276	RCV000886556\|RCV001491841;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488758	40488758	A	G	15:g.40488758A>G	-
NM_001211.6(BUB1B):c.1079C>G (p.Pro360Arg)	701	BUB1B	Uncertain significance	rs1060499942	RCV000472241;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488766	40488766	C	G	NC_000015.9:g.40488766C>G	ClinGen:CA16614360	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg)	701	BUB1B	Uncertain significance	-1	RCV001775456\|RCV002034504;	N	MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488770	40488770	T	G	40488770	-
NM_001211.6(BUB1B):c.1100G>A (p.Ser367Asn)	701	BUB1B	Uncertain significance	-1	RCV001929281;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488787	40488787	G	A	40488787	-
NM_001211.6(BUB1B):c.1113T>C (p.Pro371=)	701	BUB1B	Likely benign	-1	RCV002151790;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488800	40488800	T	C	40488800	-
NM_001211.6(BUB1B):c.1127_1128delinsTT (p.Gly376Val)	701	BUB1B	Uncertain significance	rs386783327	RCV000468452;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488814	40488815	GA	TT	NC_000015.9:g.40488814_40488815delinsTT	ClinGen:CA16614595	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1137A>G (p.Leu379=)	701	BUB1B	Likely benign	rs770658836	RCV000946434;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488824	40488824	A	G	15:g.40488824A>G	-
NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val)	701	BUB1B	Uncertain significance	-1	RCV001888655;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488850	40488850	C	T	40488850	-
NM_001211.6(BUB1B):c.1164G>A (p.Ala388=)	701	BUB1B	Benign	rs1047130	RCV000254288\|RCV001510589\|RCV001668465;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40488851	40488851	G	A	NC_000015.9:g.40488851G>A	ClinGen:CA7475670	CN169374 not specified;
NM_001211.6(BUB1B):c.1164G>T (p.Ala388=)	701	BUB1B	Likely benign	rs1047130	RCV000976840;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488851	40488851	G	T	15:g.40488851G>T	-
NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp)	701	BUB1B	Benign	rs1017842	RCV000120433\|RCV000462438\|RCV001675628;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40488857	40488857	G	C	15:g.40488857G>C	ClinGen:CA157796,UniProtKB:O60566#VAR_028922	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1209T>A (p.Ile403=)	701	BUB1B	Likely benign	-1	RCV002115244;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488896	40488896	T	A	40488896	-
NM_001211.6(BUB1B):c.1228T>C (p.Phe410Leu)	701	BUB1B	Uncertain significance	-1	RCV001366525;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488915	40488915	T	C	40488915	-
NM_001211.6(BUB1B):c.1230C>T (p.Phe410=)	701	BUB1B	Benign	rs61733369	RCV000458500;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488917	40488917	C	T	NC_000015.9:g.40488917C>T	ClinGen:CA7475678	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1243A>G (p.Ile415Val)	701	BUB1B	Uncertain significance	-1	RCV002031228;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488930	40488930	A	G	40488930	-
NM_001211.6(BUB1B):c.1259T>C (p.Phe420Ser)	701	BUB1B	Uncertain significance	-1	RCV001932522;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488946	40488946	T	C	40488946	-
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp)	701	BUB1B	Conflicting interpretations of pathogenicity	rs201251790	RCV000530485\|RCV001764569;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500	15	40488948	40488948	C	T	NC_000015.9:g.40488948C>T	ClinGen:CA7475681	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1288+5G>A	701	BUB1B	Uncertain significance	rs770077868	RCV000641222;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488980	40488980	G	A	15:g.40488980G>A	ClinGen:CA7475683	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1288+12T>C	701	BUB1B	Likely benign	-1	RCV002210598;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488987	40488987	T	C	40488987	-
NM_001211.6(BUB1B):c.1288+13C>T	701	BUB1B	Likely benign	-1	RCV002097518;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40488988	40488988	C	T	40488988	-
NM_001211.6(BUB1B):c.1289-9T>C	701	BUB1B	Likely benign	-1	RCV001488343;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491807	40491807	T	C	40491807	-
NM_001211.6(BUB1B):c.1290C>T (p.Ala430=)	701	BUB1B	Likely benign	-1	RCV001464824;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491817	40491817	C	T	40491817	-
NM_001211.6(BUB1B):c.1291G>A (p.Glu431Lys)	701	BUB1B	Uncertain significance	-1	RCV001892074;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491818	40491818	G	A	40491818	-
NM_001211.6(BUB1B):c.1296A>G (p.Leu432=)	701	BUB1B	Likely benign	-1	RCV002174952;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491823	40491823	A	G	40491823	-
NM_001211.6(BUB1B):c.1298T>A (p.Leu433Ter)	701	BUB1B	Pathogenic	-1	RCV001922535;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491825	40491825	T	A	40491825	-
NM_001211.6(BUB1B):c.1299G>C (p.Leu433Phe)	701	BUB1B	Uncertain significance	-1	RCV001943673;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491826	40491826	G	C	40491826	-
NM_001211.6(BUB1B):c.1308A>G (p.Ala436=)	701	BUB1B	Likely benign	-1	RCV001426874;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491835	40491835	A	G	40491835	-
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)	701	BUB1B	Uncertain significance	rs373256667	RCV000641234\|RCV000763967;	N	MONDO: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:1052	15	40491888	40491888	A	G	15:g.40491888A>G	ClinGen:CA7475711	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1368C>T (p.Ile456=)	701	BUB1B	Likely benign	rs201813238	RCV000557386;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491895	40491895	C	T	15:g.40491895C>T	ClinGen:CA7475713	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)	701	BUB1B	Likely benign	rs141013408	RCV000233591;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491898	40491898	A	G	15:g.40491898A>G	ClinGen:CA7475714	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1401+18A>G	701	BUB1B	Likely benign	-1	RCV002149957;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40491946	40491946	A	G	40491946	-
NM_001211.6(BUB1B):c.1402-5A>G	701	BUB1B	Pathogenic; Affects	rs1566824771	RCV000007170\|RCV000007171;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430	15	40492440	40492440	A	G	NC_000015.9:g.40492440A>G	OMIM:602860.0012	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1402-1G>T	701	BUB1B	Pathogenic; Affects	rs1566824774	RCV000007167\|RCV000007166;	N	MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492444	40492444	G	T	15:g.40492444G>T	OMIM:602860.0010	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1413G>A (p.Thr471=)	701	BUB1B	Likely benign	rs374560564	RCV000870537\|RCV001491340;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492456	40492456	G	A	15:g.40492456G>A	-
NM_001211.6(BUB1B):c.1413G>T (p.Thr471=)	701	BUB1B	Likely benign	rs374560564	RCV000866840\|RCV001405875;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492456	40492456	G	T	15:g.40492456G>T	-
NM_001211.6(BUB1B):c.1419T>C (p.Pro473=)	701	BUB1B	Likely benign	-1	RCV001493018;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492462	40492462	T	C	40492462	-
NM_001211.6(BUB1B):c.1437A>G (p.Lys479=)	701	BUB1B	Likely benign	-1	RCV001411297;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492480	40492480	A	G	40492480	-
NM_001211.6(BUB1B):c.1441C>T (p.Gln481Ter)	701	BUB1B	Pathogenic	-1	RCV001909512;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492484	40492484	C	T	40492484	-
NM_001211.6(BUB1B):c.1443A>G (p.Gln481=)	701	BUB1B	Likely benign	rs754657047	RCV000870104;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492486	40492486	A	G	15:g.40492486A>G	-
NM_001211.6(BUB1B):c.1444A>G (p.Ile482Val)	701	BUB1B	Uncertain significance	rs780725534	RCV001052300;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492487	40492487	A	G	15:g.40492487A>G	-
NM_001211.6(BUB1B):c.1449T>C (p.Ala483=)	701	BUB1B	Likely benign	rs755711414	RCV000920945\|RCV001484257;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492492	40492492	T	C	15:g.40492492T>C	-
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)	701	BUB1B	Uncertain significance	rs770704003	RCV000460185\|RCV000765203;	N	MONDO: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:1052	15	40492496	40492496	G	A	NC_000015.9:g.40492496G>A	ClinGen:CA7475754	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1466_1470dup (p.Gly491fs)	701	BUB1B	Pathogenic	-1	RCV001915608;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492507	40492508	A	AATACC	40492507	-
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)	701	BUB1B	Uncertain significance	rs146795655	RCV000120417\|RCV000226228\|RCV000765204\|RCV001753502;	N	MedGen: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:CN517202	15	40492521	40492521	C	T	15:g.40492521C>T	ClinGen:CA157750	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1517G>A (p.Arg506Lys)	701	BUB1B	Uncertain significance	-1	RCV001919263;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492560	40492560	G	A	40492560	-
NM_001211.6(BUB1B):c.1517+7C>G	701	BUB1B	Likely benign	-1	RCV001439384;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492567	40492567	C	G	40492567	-
NM_001211.6(BUB1B):c.1517+10C>T	701	BUB1B	Likely benign	-1	RCV001464421;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40492570	40492570	C	T	40492570	-
NM_001211.6(BUB1B):c.1520A>G (p.Glu507Gly)	701	BUB1B	Uncertain significance	-1	RCV001761707\|RCV001868775;	N	MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40493134	40493134	A	G	40493134	-
NM_001211.6(BUB1B):c.1533G>A (p.Ala511=)	701	BUB1B	Uncertain significance	rs779879463	RCV001216888;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40493147	40493147	G	A	15:g.40493147G>A	-
NM_001211.6(BUB1B):c.1535A>G (p.Glu512Gly)	701	BUB1B	Uncertain significance	-1	RCV001371357;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40493149	40493149	A	G	40493149	-
NM_001211.6(BUB1B):c.1539C>T (p.Asn513=)	701	BUB1B	Likely benign	rs140534961	RCV000462870;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40493153	40493153	C	T	NC_000015.9:g.40493153C>T	ClinGen:CA7475793	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1546C>G (p.Gln516Glu)	701	BUB1B	Uncertain significance	-1	RCV001945230;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40493160	40493160	C	G	40493160	-
NM_001211.6(BUB1B):c.1568-16G>T	701	BUB1B	Likely benign	-1	RCV002167720;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494590	40494590	G	T	40494590	-
NM_001211.6(BUB1B):c.1568-16G>A	701	BUB1B	Likely benign	-1	RCV002130358;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494590	40494590	G	A	40494590	-
NM_001211.6(BUB1B):c.1568-5T>A	701	BUB1B	Likely benign	-1	RCV001421447;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494601	40494601	T	A	40494601	-
NM_001211.6(BUB1B):c.1587C>T (p.Ser529=)	701	BUB1B	Likely benign	-1	RCV002075628;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494625	40494625	C	T	40494625	-
NM_001211.6(BUB1B):c.1590T>A (p.Ile530=)	701	BUB1B	Likely benign	-1	RCV002075796;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494628	40494628	T	A	40494628	-
NM_001211.6(BUB1B):c.1611A>G (p.Ser537=)	701	BUB1B	Likely benign	-1	RCV001410028;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494649	40494649	A	G	40494649	-
NM_001211.6(BUB1B):c.1620G>A (p.Lys540=)	701	BUB1B	Likely benign	-1	RCV001487946;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494658	40494658	G	A	40494658	-
NM_001211.6(BUB1B):c.1623T>C (p.Asn541=)	701	BUB1B	Benign	rs1129352	RCV000246291\|RCV000466207\|RCV001537598;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40494661	40494661	T	C	NC_000015.9:g.40494661T>C	ClinGen:CA7475818	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1624A>G (p.Lys542Glu)	701	BUB1B	Uncertain significance	-1	RCV001955743;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494662	40494662	A	G	40494662	-
NM_001211.6(BUB1B):c.1628+5G>A	701	BUB1B	Uncertain significance	rs368202270	RCV000697896;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494671	40494671	G	A	15:g.40494671G>A	-	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1628+17_1628+24del	701	BUB1B	Likely benign	-1	RCV002220482;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494672	40494679	GTTGTTTTT	G	40494671	-
NM_001211.6(BUB1B):c.1628+8del	701	BUB1B	Likely benign	-1	RCV001499234;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494674	40494674	TG	T	40494673	-
NM_001211.6(BUB1B):c.1628+15dup	701	BUB1B	Benign	-1	RCV002154944;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494674	40494675	G	GT	40494674	-
NM_001211.6(BUB1B):c.1628+9T>C	701	BUB1B	Likely benign	rs112600564	RCV000456896;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494675	40494675	T	C	NC_000015.9:g.40494675T>C	ClinGen:CA7475821	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1628+24_1628+32del	701	BUB1B	Likely benign	-1	RCV002115539;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494682	40494690	TGTTTTTTTG	T	40494681	-
NM_001211.6(BUB1B):c.1628+23dup	701	BUB1B	Benign	-1	RCV002095709;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494682	40494683	G	GT	40494682	-
NM_001211.6(BUB1B):c.1628+17T>G	701	BUB1B	Likely benign	-1	RCV002138414;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494683	40494683	T	G	40494683	-
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)	701	BUB1B	Uncertain significance	rs138332995	RCV000230124\|RCV000765205\|RCV001357479;	N	MONDO: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:CN517202	15	40494791	40494791	C	T	15:g.40494791C>T	ClinGen:CA7475854	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter)	701	BUB1B	Pathogenic	rs767213728	RCV000505636;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494809	40494809	C	T	15:g.40494809C>T	ClinGen:CA7475858	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)	701	BUB1B	Benign/Likely benign	rs28989187	RCV000007164\|RCV000007165;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430	15	40494810	40494810	G	A	15:g.40494810G>A	ClinGen:CA118500,UniProtKB:O60566#VAR_028923,OMIM:602860.0009	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1670C>G (p.Pro557Arg)	701	BUB1B	Uncertain significance	-1	RCV002045393;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494831	40494831	C	G	40494831	-
NM_001211.6(BUB1B):c.1678G>A (p.Val560Ile)	701	BUB1B	Uncertain significance	-1	RCV001978991;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494839	40494839	G	A	40494839	-
NM_001211.6(BUB1B):c.1693G>C (p.Glu565Gln)	701	BUB1B	Uncertain significance	-1	RCV002011983;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494854	40494854	G	C	40494854	-
NM_001211.6(BUB1B):c.1717G>C (p.Val573Leu)	701	BUB1B	Uncertain significance	-1	RCV001996520;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494878	40494878	G	C	40494878	-
NM_001211.6(BUB1B):c.1725A>C (p.Pro575=)	701	BUB1B	Likely benign	rs1042674657	RCV000870146\|RCV001487926;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494886	40494886	A	C	15:g.40494886A>C	-
NM_001211.6(BUB1B):c.1734+18T>C	701	BUB1B	Likely benign	-1	RCV002082987;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40494913	40494913	T	C	40494913	-
NM_001211.6(BUB1B):c.1735-19T>C	701	BUB1B	Likely benign	-1	RCV002098317;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498366	40498366	T	C	40498366	-
NM_001211.6(BUB1B):c.1746A>C (p.Thr582=)	701	BUB1B	Conflicting interpretations of pathogenicity	rs373105304	RCV000560436\|RCV000732068;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40498396	40498396	A	C	15:g.40498396A>C	ClinGen:CA7475886	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1764C>T (p.Ser588=)	701	BUB1B	Uncertain significance	-1	RCV001907285;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498414	40498414	C	T	40498414	-
NM_001211.6(BUB1B):c.1765G>A (p.Glu589Lys)	701	BUB1B	Uncertain significance	-1	RCV001914009;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498415	40498415	G	A	40498415	-
NM_001211.6(BUB1B):c.1815A>T (p.Pro605=)	701	BUB1B	Likely benign	-1	RCV001473532;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498465	40498465	A	T	40498465	-
NM_001211.6(BUB1B):c.1826G>T (p.Cys609Phe)	701	BUB1B	Uncertain significance	rs1260445282	RCV001292938;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498476	40498476	G	T	40498476	-
NM_001211.6(BUB1B):c.1833del (p.Phe611fs)	701	BUB1B	Pathogenic; Affects	rs1566826570	RCV000007169\|RCV000007168;	N	MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498481	40498481	CT	C	NC_000015.9:g.40498483del	OMIM:602860.0011	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1842A>G (p.Ala614=)	701	BUB1B	Likely benign	-1	RCV001500968;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498492	40498492	A	G	40498492	-
NM_001211.6(BUB1B):c.1846C>T (p.Arg616Cys)	701	BUB1B	Uncertain significance	-1	RCV001371368;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498496	40498496	C	T	40498496	-
NM_001211.6(BUB1B):c.1847G>A (p.Arg616His)	701	BUB1B	Uncertain significance	rs556193159	RCV000641231;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498497	40498497	G	A	NC_000015.9:g.40498497G>A	ClinGen:CA268798086	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1847G>C (p.Arg616Pro)	701	BUB1B	Uncertain significance	-1	RCV001361880;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498497	40498497	G	C	40498497	-
NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala)	701	BUB1B	Benign	rs1801528	RCV000120419\|RCV000468405\|RCV001598627;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40498503	40498503	T	C	15:g.40498503T>C	ClinGen:CA157756,UniProtKB:O60566#VAR_008854	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1877T>C (p.Met626Thr)	701	BUB1B	Uncertain significance	-1	RCV001884809;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498527	40498527	T	C	40498527	-
NM_001211.6(BUB1B):c.1897T>A (p.Ser633Thr)	701	BUB1B	Uncertain significance	-1	RCV001364531;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498547	40498547	T	A	40498547	-
NM_001211.6(BUB1B):c.1906del (p.Glu636fs)	701	BUB1B	Pathogenic	-1	RCV001955723;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498556	40498556	TG	T	40498555	-
NM_001211.6(BUB1B):c.1910G>A (p.Arg637Lys)	701	BUB1B	Uncertain significance	-1	RCV001930805;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498560	40498560	G	A	40498560	-
NM_001211.6(BUB1B):c.1920G>A (p.Pro640=)	701	BUB1B	Benign	rs755507111	RCV000475358;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498570	40498570	G	A	NC_000015.9:g.40498570G>A	ClinGen:CA7475903	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.1922A>T (p.Glu641Val)	701	BUB1B	Uncertain significance	-1	RCV001363695;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498572	40498572	A	T	40498572	-
NM_001211.6(BUB1B):c.1936G>A (p.Val646Ile)	701	BUB1B	Uncertain significance	-1	RCV001990281;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498586	40498586	G	A	40498586	-
NM_001211.6(BUB1B):c.1938A>G (p.Val646=)	701	BUB1B	Likely benign	-1	RCV001466612;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498588	40498588	A	G	40498588	-
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)	701	BUB1B	Uncertain significance	rs148348158	RCV001331826;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498593	40498593	C	T	15:g.40498593C>T	-	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.1973C>T (p.Thr658Ile)	701	BUB1B	Uncertain significance	rs373789523	RCV000797736;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498623	40498623	C	T	15:g.40498623C>T	-
NM_001211.6(BUB1B):c.1977C>A (p.Ile659=)	701	BUB1B	Likely benign	-1	RCV001430050;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498627	40498627	C	A	40498627	-
NM_001211.6(BUB1B):c.1980C>T (p.Tyr660=)	701	BUB1B	Likely benign	-1	RCV001499737;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498630	40498630	C	T	40498630	-
NM_001211.6(BUB1B):c.1982G>A (p.Ser661Asn)	701	BUB1B	Uncertain significance	-1	RCV001967103;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498632	40498632	G	A	40498632	-
NM_001211.6(BUB1B):c.1985A>G (p.Gln662Arg)	701	BUB1B	Uncertain significance	-1	RCV001984924;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498635	40498635	A	G	40498635	-
NM_001211.6(BUB1B):c.2007G>A (p.Leu669=)	701	BUB1B	Likely benign	-1	RCV002165341;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498657	40498657	G	A	40498657	-
NM_001211.6(BUB1B):c.2009+17_2009+18insC	701	BUB1B	Likely benign	-1	RCV002095825;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40498676	40498677	A	AC	40498676	-
NM_001211.6(BUB1B):c.2010-19T>A	701	BUB1B	Likely benign	-1	RCV002212873;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500819	40500819	T	A	40500819	-
NM_001211.6(BUB1B):c.2010-11G>T	701	BUB1B	Likely benign	-1	RCV002083811;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500827	40500827	G	T	40500827	-
NM_001211.6(BUB1B):c.2025C>T (p.Asp675=)	701	BUB1B	Likely benign	-1	RCV002076990;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500853	40500853	C	T	40500853	-
NM_001211.6(BUB1B):c.2037C>T (p.Ala679=)	701	BUB1B	Likely benign	rs1595532884	RCV000982293;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500865	40500865	C	T	15:g.40500865C>T	-
NM_001211.6(BUB1B):c.2042A>C (p.His681Pro)	701	BUB1B	Uncertain significance	-1	RCV001367994;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500870	40500870	A	C	40500870	-
NM_001211.6(BUB1B):c.2046C>T (p.Ser682=)	701	BUB1B	Likely benign	-1	RCV002178290;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500874	40500874	C	T	40500874	-
NM_001211.6(BUB1B):c.2072C>T (p.Ser691Leu)	701	BUB1B	Uncertain significance	-1	RCV002007943;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500900	40500900	C	T	40500900	-
NM_001211.6(BUB1B):c.2097A>C (p.Lys699Asn)	701	BUB1B	Uncertain significance	-1	RCV001368984;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500925	40500925	A	C	40500925	-
NM_001211.6(BUB1B):c.2119C>T (p.Leu707=)	701	BUB1B	Likely benign	rs1595532945	RCV000936347\|RCV001402415;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500947	40500947	C	T	15:g.40500947C>T	-
NM_001211.6(BUB1B):c.2137A>C (p.Thr713Pro)	701	BUB1B	Uncertain significance	-1	RCV002028691;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500965	40500965	A	C	40500965	-
NM_001211.6(BUB1B):c.2143+15C>T	701	BUB1B	Benign	rs11630664	RCV000242388\|RCV001668466\|RCV001554489;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500986	40500986	C	T	NC_000015.9:g.40500986C>T	ClinGen:CA7475961	CN169374 not specified;
NM_001211.6(BUB1B):c.2143+16C>A	701	BUB1B	Likely benign	-1	RCV002150933;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500987	40500987	C	A	40500987	-
NM_001211.6(BUB1B):c.2143+20A>G	701	BUB1B	Likely benign	-1	RCV002145089;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40500991	40500991	A	G	40500991	-
NM_001211.6(BUB1B):c.2144-14C>T	701	BUB1B	Likely benign	-1	RCV002199955;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501822	40501822	C	T	40501822	-
NM_001211.6(BUB1B):c.2144-7C>G	701	BUB1B	Uncertain significance	-1	RCV001932129;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501829	40501829	C	G	40501829	-
NM_001211.6(BUB1B):c.2144-6T>C	701	BUB1B	Likely benign	rs1595533439	RCV000975917\|RCV001469797;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501830	40501830	T	C	15:g.40501830T>C	-
NM_001211.6(BUB1B):c.2144-5G>A	701	BUB1B	Uncertain significance	rs2037684260	RCV001224628;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501831	40501831	G	A	15:g.40501831G>A	-
NM_001211.6(BUB1B):c.2144-4G>A	701	BUB1B	Likely benign	rs778833334	RCV000871717;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501832	40501832	G	A	15:g.40501832G>A	-
NM_001211.6(BUB1B):c.2160A>T (p.Ser720=)	701	BUB1B	Likely benign	-1	RCV001430953;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501852	40501852	A	T	40501852	-
NM_001211.6(BUB1B):c.2163A>G (p.Pro721=)	701	BUB1B	Likely benign	-1	RCV002208637;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501855	40501855	A	G	40501855	-
NM_001211.6(BUB1B):c.2174A>C (p.Gln725Pro)	701	BUB1B	Uncertain significance	-1	RCV002022507;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501866	40501866	A	C	40501866	-
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs)	701	BUB1B	Pathogenic; Affects	rs1392909108	RCV000007158\|RCV000007159;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430	15	40501898	40501899	G	GAGTT	NC_000015.9:g.40501900_40501903dup	OMIM:602860.0006	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2208G>A (p.Glu736=)	701	BUB1B	Likely benign	-1	RCV002080329;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501900	40501900	G	A	40501900	-
NM_001211.6(BUB1B):c.2210del (p.Glu736_Leu737insTer)	701	BUB1B	Pathogenic	-1	RCV001939359;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501901	40501901	GT	G	40501900	-
NM_001211.6(BUB1B):c.2210T>G (p.Leu737Ter)	701	BUB1B	Pathogenic	rs759242053	RCV000641226;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501902	40501902	T	G	15:g.40501902T>G	ClinGen:CA7475986	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2284+17T>G	701	BUB1B	Benign	rs13380241	RCV000247377\|RCV002057991\|RCV001618412;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40501993	40501993	T	G	NC_000015.9:g.40501993T>G	ClinGen:CA7475998	CN169374 not specified;
NM_001211.6(BUB1B):c.2284+18C>T	701	BUB1B	Likely benign	-1	RCV002120831;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40501994	40501994	C	T	40501994	-
NM_001211.6(BUB1B):c.2285-12C>T	701	BUB1B	Likely benign	-1	RCV002089319;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502299	40502299	C	T	40502299	-
NM_001211.6(BUB1B):c.2285-4A>G	701	BUB1B	Uncertain significance	rs1555383523	RCV000641225;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502307	40502307	A	G	15:g.40502307A>G	ClinGen:CA658798301	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2285-3C>T	701	BUB1B	Uncertain significance	-1	RCV002037188;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502308	40502308	C	T	40502308	-
NM_001211.6(BUB1B):c.2292G>A (p.Glu764=)	701	BUB1B	Likely benign	-1	RCV002084785;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502318	40502318	G	A	40502318	-
NM_001211.6(BUB1B):c.2299T>C (p.Cys767Arg)	701	BUB1B	Uncertain significance	-1	RCV001870290;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502325	40502325	T	C	40502325	-
NM_001211.6(BUB1B):c.2308C>T (p.Arg770Ter)	701	BUB1B	Pathogenic	rs750364303	RCV000464463;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502334	40502334	C	T	NC_000015.9:g.40502334C>T	ClinGen:CA7476012	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2309G>A (p.Arg770Gln)	701	BUB1B	Uncertain significance	-1	RCV001987328;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502335	40502335	G	A	40502335	-
NM_001211.6(BUB1B):c.2328A>C (p.Glu776Asp)	701	BUB1B	Uncertain significance	-1	RCV001909413;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502354	40502354	A	C	40502354	-
NM_001211.6(BUB1B):c.2334C>G (p.Tyr778Ter)	701	BUB1B	Pathogenic	-1	RCV001882210;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502360	40502360	C	G	40502360	-
NM_001211.6(BUB1B):c.2341T>C (p.Phe781Leu)	701	BUB1B	Uncertain significance	-1	RCV002022881;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502367	40502367	T	C	40502367	-
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs)	701	BUB1B	Pathogenic/Likely pathogenic	rs756459860	RCV001268170\|RCV001880163;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502387	40502388	ACT	A	15:g.40502387_40502388del	-
NM_001211.6(BUB1B):c.2385G>C (p.Lys795Asn)	701	BUB1B	Uncertain significance	-1	RCV002024636;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502411	40502411	G	C	40502411	-
NM_001211.6(BUB1B):c.2385+4G>C	701	BUB1B	Uncertain significance	rs202108787	RCV000232917;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502415	40502415	G	C	15:g.40502415G>C	ClinGen:CA7476024	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2385+6A>C	701	BUB1B	Uncertain significance	-1	RCV001871302;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502417	40502417	A	C	40502417	-
NM_001211.6(BUB1B):c.2385+7C>T	701	BUB1B	Likely benign	rs779458273	RCV000641246;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502418	40502418	C	T	15:g.40502418C>T	ClinGen:CA7476026	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2385+13C>G	701	BUB1B	Likely benign	-1	RCV002156580;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40502424	40502424	C	G	40502424	-
NM_001211.6(BUB1B):c.2386-11A>G	701	BUB1B	Pathogenic; Affects	rs751421137	RCV000023214\|RCV000023213;	N	MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504689	40504689	A	G	15:g.40504689A>G	OMIM:602860.0013	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2386-6T>C	701	BUB1B	Likely benign	-1	RCV001435329;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504694	40504694	T	C	40504694	-
NM_001211.6(BUB1B):c.2386-4A>G	701	BUB1B	Likely benign	-1	RCV002111183;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504696	40504696	A	G	40504696	-
NM_001211.6(BUB1B):c.2386-2A>G	701	BUB1B	Likely pathogenic	-1	RCV001377149;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504698	40504698	A	G	40504698	-
NM_001211.6(BUB1B):c.2391T>C (p.Ser797=)	701	BUB1B	Likely benign	-1	RCV001469242;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504705	40504705	T	C	40504705	-
NM_001211.6(BUB1B):c.2391T>G (p.Ser797=)	701	BUB1B	Likely benign	-1	RCV002200016;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504705	40504705	T	G	40504705	-
NM_001211.6(BUB1B):c.2398C>T (p.Pro800Ser)	701	BUB1B	Uncertain significance	-1	RCV001864618;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504712	40504712	C	T	40504712	-
NM_001211.6(BUB1B):c.2405C>T (p.Pro802Leu)	701	BUB1B	Uncertain significance	rs878854277	RCV000227847\|RCV001301454;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052	15	40504719	40504719	C	T	NC_000015.9:g.40504719C>T	ClinGen:CA10583237	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2414T>C (p.Phe805Ser)	701	BUB1B	Uncertain significance	rs1060499948	RCV000476337;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504728	40504728	T	C	15:g.40504728T>C	ClinGen:CA16614456	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2432T>C (p.Leu811Ser)	701	BUB1B	Uncertain significance	-1	RCV001926592;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504746	40504746	T	C	40504746	-
NM_001211.6(BUB1B):c.2440C>G (p.Arg814Gly)	701	BUB1B	Uncertain significance	-1	RCV001966261;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504754	40504754	C	G	40504754	-
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His)	701	BUB1B	Conflicting interpretations of pathogenicity	rs28989182	RCV000007160\|RCV000007161\|RCV000641223;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430\|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052	15	40504755	40504755	G	A	15:g.40504755G>A	ClinGen:CA118494,UniProtKB:O60566#VAR_028924,OMIM:602860.0007	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2448T>C (p.Asn816=)	701	BUB1B	Likely benign	rs1595534924	RCV000945969\|RCV001447867;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504762	40504762	T	C	15:g.40504762T>C	-
NM_001211.6(BUB1B):c.2454T>C (p.Asp818=)	701	BUB1B	Likely benign	rs749203600	RCV000550817\|RCV001463443;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504768	40504768	T	C	NC_000015.9:g.40504768T>C	ClinGen:CA7476050	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2477A>G (p.Tyr826Cys)	701	BUB1B	Uncertain significance	-1	RCV001918882;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504791	40504791	A	G	40504791	-
NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter)	701	BUB1B	Pathogenic	rs2037728032	RCV001232377;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504792	40504792	T	G	15:g.40504792T>G	-
NM_001211.6(BUB1B):c.2481A>G (p.Gln827=)	701	BUB1B	Likely benign	rs76294284	RCV000876771\|RCV001482295;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504795	40504795	A	G	15:g.40504795A>G	-
NM_001211.6(BUB1B):c.2506C>T (p.His836Tyr)	701	BUB1B	Uncertain significance	-1	RCV001359099;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504820	40504820	C	T	40504820	-
NM_001211.6(BUB1B):c.2509C>A (p.Gln837Lys)	701	BUB1B	Uncertain significance	-1	RCV002006036;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504823	40504823	C	A	40504823	-
NM_001211.6(BUB1B):c.2523C>T (p.Cys841=)	701	BUB1B	Benign	rs34999621	RCV000250861\|RCV000473499\|RCV001610612;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40504837	40504837	C	T	15:g.40504837C>T	ClinGen:CA7476059	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)	701	BUB1B	Uncertain significance	rs28989181	RCV000007154\|RCV000007155;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430	15	40504844	40504844	C	T	15:g.40504844C>T	ClinGen:CA118488,UniProtKB:O60566#VAR_028925,OMIM:602860.0004	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2534A>G (p.Gln845Arg)	701	BUB1B	Uncertain significance	-1	RCV002021741;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504848	40504848	A	G	40504848	-
NM_001211.6(BUB1B):c.2535+8A>G	701	BUB1B	Likely benign	-1	RCV002158021;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504857	40504857	A	G	40504857	-
NM_001211.6(BUB1B):c.2535+10A>C	701	BUB1B	Likely benign	rs1197837468	RCV000941951\|RCV001400688;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504859	40504859	A	C	15:g.40504859A>C	-
NM_001211.6(BUB1B):c.2535+15A>G	701	BUB1B	Likely benign	-1	RCV002127078;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504864	40504864	A	G	40504864	-
NM_001211.6(BUB1B):c.2535+16A>G	701	BUB1B	Likely benign	-1	RCV002166076;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504865	40504865	A	G	40504865	-
NM_001211.6(BUB1B):c.2535+19A>G	701	BUB1B	Likely benign	-1	RCV002117762;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40504868	40504868	A	G	40504868	-
NM_001211.6(BUB1B):c.2536-9A>G	701	BUB1B	Likely benign	-1	RCV002098589;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505524	40505524	A	G	40505524	-
NM_001211.6(BUB1B):c.2566del (p.His856fs)	701	BUB1B	Pathogenic	rs749762155	RCV001232097;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505561	40505561	AC	A	15:g.40505561_40505561del	-
NM_001211.6(BUB1B):c.2582T>G (p.Leu861Trp)	701	BUB1B	Uncertain significance	rs1566828619	RCV000695132;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505579	40505579	T	G	15:g.40505579T>G	-	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2628A>G (p.Ala876=)	701	BUB1B	Likely benign	rs768648860	RCV000530047;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505625	40505625	A	G	NC_000015.9:g.40505625A>G	ClinGen:CA268758337	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2634A>C (p.Ile878=)	701	BUB1B	Likely benign	-1	RCV001504067;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505631	40505631	A	C	40505631	-
NM_001211.6(BUB1B):c.2636dup (p.His880fs)	701	BUB1B	Pathogenic	-1	RCV001730039\|RCV001730040;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430	15	40505632	40505633	G	GT	40505632	-
NM_001211.6(BUB1B):c.2648T>C (p.Leu883Ser)	701	BUB1B	Uncertain significance	-1	RCV001980023;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505645	40505645	T	C	40505645	-
NM_001211.6(BUB1B):c.2656A>G (p.Arg886Gly)	701	BUB1B	Uncertain significance	-1	RCV001891014;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505653	40505653	A	G	40505653	-
NM_001211.6(BUB1B):c.2667T>C (p.Ile889=)	701	BUB1B	Likely benign	rs901161308	RCV000469564;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505664	40505664	T	C	NC_000015.9:g.40505664T>C	ClinGen:CA16614598	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2673A>G (p.Arg891=)	701	BUB1B	Likely benign	-1	RCV001426898;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505670	40505670	A	G	40505670	-
NM_001211.6(BUB1B):c.2678+15T>G	701	BUB1B	Uncertain significance	-1	RCV001880504;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40505690	40505690	T	G	40505690	-
NM_001211.6(BUB1B):c.2679-97A>G	701	BUB1B	Benign	rs2290551	RCV000989287\|RCV001709700;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40509600	40509600	A	G	15:g.40509600A>G	-
NM_001211.6(BUB1B):c.2679A>G (p.Arg893=)	701	BUB1B	Uncertain significance	-1	RCV001937622;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509697	40509697	A	G	40509697	-
NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu)	701	BUB1B	Uncertain significance	rs747000103	RCV000230606\|RCV001316187;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052	15	40509747	40509747	T	A	NC_000015.9:g.40509747T>A	ClinGen:CA7476110	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val)	701	BUB1B	Uncertain significance	-1	RCV001753231\|RCV001868723;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509770	40509770	C	G	40509770	-
NM_001211.6(BUB1B):c.2760G>C (p.Val920=)	701	BUB1B	Likely benign	-1	RCV001395272;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509778	40509778	G	C	40509778	-
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)	701	BUB1B	Uncertain significance	rs28989183	RCV000007156\|RCV000007157\|RCV000540349\|RCV001552489;	N	MONDO: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:CN517202	15	40509781	40509781	G	C	15:g.40509781G>C	ClinGen:CA118491,UniProtKB:O60566#VAR_028927,OMIM:602860.0005	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr)	701	BUB1B	Uncertain significance	rs950826338	RCV001236513;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509801	40509801	G	C	15:g.40509801G>C	-
NM_001211.6(BUB1B):c.2784C>T (p.Ser928=)	701	BUB1B	Likely benign	rs139066741	RCV000555231;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509802	40509802	C	T	NC_000015.9:g.40509802C>T	ClinGen:CA7476122	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser)	701	BUB1B	Uncertain significance	rs143232848	RCV000463687\|RCV000733229\|RCV001252831;	N	MONDO: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:000	15	40509803	40509803	G	A	NC_000015.9:g.40509803G>A	ClinGen:CA7476124	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2799A>G (p.Val933=)	701	BUB1B	Likely benign	rs755014372	RCV000940701\|RCV001480527;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509817	40509817	A	G	15:g.40509817A>G	-
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg)	701	BUB1B	Uncertain significance	rs781299320	RCV000465135;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509819	40509819	A	G	NC_000015.9:g.40509819A>G	ClinGen:CA7476128	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro)	701	BUB1B	Uncertain significance	-1	RCV001876711;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509825	40509825	T	C	40509825	-
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly)	701	BUB1B	Uncertain significance	-1	RCV001360390;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509828	40509828	A	G	40509828	-
NM_001211.6(BUB1B):c.2817A>G (p.Gln939=)	701	BUB1B	Likely benign	-1	RCV002148878;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509835	40509835	A	G	40509835	-
NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg)	701	BUB1B	Likely benign	-1	RCV001434880;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509867	40509867	A	G	40509867	-
NM_001211.6(BUB1B):c.2850+9A>G	701	BUB1B	Likely benign	-1	RCV001468796;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40509877	40509877	A	G	40509877	-
NM_001211.6(BUB1B):c.2851-17G>A	701	BUB1B	Benign	-1	RCV002146684;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510640	40510640	G	A	40510640	-
NM_001211.6(BUB1B):c.2851-16C>T	701	BUB1B	Likely benign	-1	RCV002109322;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510641	40510641	C	T	40510641	-
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His)	701	BUB1B	Uncertain significance	-1	RCV001929810;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510660	40510660	G	C	40510660	-
NM_001211.6(BUB1B):c.2856C>T (p.Asp952=)	701	BUB1B	Benign	rs1802286	RCV000210533\|RCV000246993\|RCV001640328;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN169374\|MedGen:CN517202	15	40510662	40510662	C	T	NC_000015.9:g.40510662C>T	ClinGen:CA356475	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2857C>T (p.Leu953=)	701	BUB1B	Likely benign	-1	RCV001464833;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510663	40510663	C	T	40510663	-
NM_001211.6(BUB1B):c.2862T>C (p.Phe954=)	701	BUB1B	Likely benign	-1	RCV002208511;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510668	40510668	T	C	40510668	-
NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter)	701	BUB1B	Pathogenic	-1	RCV001932431;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510682	40510682	T	G	40510682	-
NM_001211.6(BUB1B):c.2889A>G (p.Leu963=)	701	BUB1B	Likely benign	rs768869879	RCV000876648;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510695	40510695	A	G	15:g.40510695A>G	-
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter)	701	BUB1B	Uncertain significance	rs1191638586	RCV000641233;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510739	40510739	G	A	NC_000015.9:g.40510739G>A	ClinGen:CA391688360	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu)	701	BUB1B	Uncertain significance	-1	RCV001946380;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510739	40510739	G	T	40510739	-
NM_001211.6(BUB1B):c.2957+8T>C	701	BUB1B	Likely benign	-1	RCV002098623;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510771	40510771	T	C	40510771	-
NM_001211.6(BUB1B):c.2957+16T>C	701	BUB1B	Likely benign	-1	RCV002122435;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510779	40510779	T	C	40510779	-
NM_001211.6(BUB1B):c.2957+17G>A	701	BUB1B	Likely benign	-1	RCV002145519;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40510780	40510780	G	A	40510780	-
NM_001211.6(BUB1B):c.2958-13dup	701	BUB1B	Benign	-1	RCV002205184;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512748	40512749	G	GT	40512748	-
NM_001211.6(BUB1B):c.2958-10A>G	701	BUB1B	Likely benign	rs759331631	RCV000873458\|RCV001409449;	N	MedGen:CN517202\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512755	40512755	A	G	15:g.40512755A>G	-
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu)	701	BUB1B	Uncertain significance	-1	RCV001368899;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512769	40512769	A	G	40512769	-
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys)	701	BUB1B	Uncertain significance	rs1060499945	RCV000466079;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512786	40512786	G	T	NC_000015.9:g.40512786G>T	ClinGen:CA16614362	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.2994G>A (p.Val998=)	701	BUB1B	Likely benign	-1	RCV001438914;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512801	40512801	G	A	40512801	-
NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln)	701	BUB1B	Uncertain significance	rs377612791	RCV000533586;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512803	40512803	G	A	15:g.40512803G>A	ClinGen:CA7476180	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.2997G>A (p.Arg999=)	701	BUB1B	Likely benign	-1	RCV001453298;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512804	40512804	G	A	40512804	-
NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser)	701	BUB1B	Benign/Likely benign	rs34998711	RCV000120423\|RCV000457975\|RCV001560420;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40512818	40512818	A	G	15:g.40512818A>G	ClinGen:CA157768	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=)	701	BUB1B	Likely benign	-1	RCV002115334;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512831	40512831	A	G	40512831	-
NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro)	701	BUB1B	Uncertain significance	-1	RCV001946423;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512835	40512835	T	C	40512835	-
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)	701	BUB1B	Uncertain significance	rs28989185	RCV000007162\|RCV000007163\|RCV001225193;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MONDO:MONDO:0008304,MedGen:C1864389,OMIM:176430\|MONDO:MONDO:0000141,MedGen:C4551972,OMIM:PS257300, Orphanet:1052	15	40512842	40512842	T	C	15:g.40512842T>C	ClinGen:CA118497,UniProtKB:O60566#VAR_028928,OMIM:602860.0008	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;
NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr)	701	BUB1B	Uncertain significance	-1	RCV001982361;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512856	40512856	G	A	40512856	-
NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile)	701	BUB1B	Uncertain significance	-1	RCV001895666;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512881	40512881	C	T	40512881	-
NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=)	701	BUB1B	Uncertain significance	-1	RCV001371344;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512891	40512891	A	G	40512891	-
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)	701	BUB1B	Conflicting interpretations of pathogenicity	rs34700927	RCV001294084\|RCV001357136\|RCV001764363;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202\|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500	15	40512901	40512901	A	C	NC_000015.9:g.40512901A>C	ClinGen:CA7476195	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=)	701	BUB1B	Benign	rs35611758	RCV000251949\|RCV000471759\|RCV001689822;	N	MedGen:CN169374\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052\|MedGen:CN517202	15	40512906	40512906	A	G	NC_000015.9:g.40512906A>G	ClinGen:CA7476196	C1850343 Mosaic variegated aneuploidy syndrome;
NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=)	701	BUB1B	Likely benign	rs576684184	RCV000869735;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512912	40512912	A	G	15:g.40512912A>G	-
NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe)	701	BUB1B	Uncertain significance	-1	RCV001870171;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512912	40512912	A	C	40512912	-
NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala)	701	BUB1B	Uncertain significance	-1	RCV001366474;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512920	40512920	T	C	40512920	-
NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg)	701	BUB1B	Uncertain significance	-1	RCV001369931;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512940	40512940	G	C	40512940	-
NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser)	701	BUB1B	Uncertain significance	-1	RCV001902300;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512953	40512953	T	C	40512953	-
NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=)	701	BUB1B	Likely benign	rs376467292	RCV000867940;	N	MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	15	40512954	40512954	T	C	15:g.40512954T>C	-
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)	9702	CEP57	Pathogenic	rs1166323407	RCV000023669\|RCV000656492;	N	MONDO:MONDO:0013582,MedGen:C3279843,OMIM:614114, Orphanet:1052\|MONDO:MONDO:0009759,MedGen:C1850343,OMIM:257300, Orphanet:1052	11	95560979	95560989	T	TAGCCAATGTTC	NC_000011.9:g.95560979_95560989dup	ClinGen:CA129399,OMIM:607951.0002	CN031748 257300 Mosaic variegated aneuploidy syndrome 1;

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