Mos Variant Search Result - Rat Genome Database

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1001 records found for search term Mos

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155961224	CV1936540	single nucleotide variant	NM_005372.1(MOS):c.972C>T (p.Ser324=)	not provided [RCV002512357]	likely benign	8	56113011	56113011	Human		name
401909218	CV2821095	single nucleotide variant	NM_005372.1(MOS):c.366T>A (p.Ala122=)	not provided [RCV003423925]	likely benign	8	56113617	56113617	Human		name
407496040	CV3453894	single nucleotide variant	NM_005372.1(MOS):c.35G>T (p.Arg12Leu)	not specified [RCV004643365]	uncertain significance	8	56113948	56113948	Human		name
597660572	CV3563936	single nucleotide variant	NM_005372.1(MOS):c.53C>T (p.Ser18Leu)	not specified [RCV004828396]	uncertain significance	8	56113930	56113930	Human		name
156062309	CV2203531	single nucleotide variant	NM_005372.1(MOS):c.124C>T (p.Arg42Trp)	not specified [RCV004072734]	uncertain significance	8	56113859	56113859	Human		name
329847337	CV2543808	single nucleotide variant	NM_005372.1(MOS):c.285C>A (p.Asn95Lys)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228744]	pathogenic	8	56113698	56113698	Human	1	name
329847342	CV2543813	deletion	NM_005372.1(MOS):c.467del (p.Gly156fs)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228749]	pathogenic	8	56113516	56113516	Human	1	name
401743802	CV2696869	single nucleotide variant	NM_005372.1(MOS):c.146G>T (p.Arg49Leu)	not specified [RCV004290833]	uncertain significance	8	56113837	56113837	Human		name
407496044	CV3453895	single nucleotide variant	NM_005372.1(MOS):c.218C>T (p.Ser73Leu)	not specified [RCV004643366]	uncertain significance	8	56113765	56113765	Human		name
156276455	CV2276803	single nucleotide variant	NM_005372.1(MOS):c.929G>A (p.Gly310Glu)	not specified [RCV004140164]	uncertain significance	8	56113054	56113054	Human		name
156151270	CV2318763	single nucleotide variant	NM_005372.1(MOS):c.531G>T (p.Lys177Asn)	not specified [RCV004175687]	uncertain significance	8	56113452	56113452	Human		name
156288856	CV2332998	single nucleotide variant	NM_005372.1(MOS):c.830C>A (p.Ala277Glu)	not specified [RCV004194298]	uncertain significance	8	56113153	56113153	Human		name
329401062	CV2445946	single nucleotide variant	NM_005372.1(MOS):c.539A>C (p.Lys180Thr)	not specified [RCV004270544]	uncertain significance	8	56113444	56113444	Human		name
329362475	CV2463928	single nucleotide variant	NM_005372.1(MOS):c.701C>A (p.Thr234Lys)	not specified [RCV004279994]	uncertain significance	8	56113282	56113282	Human		name
329847338	CV2543809	single nucleotide variant	NM_005372.1(MOS):c.416T>C (p.Met139Thr)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228745]	pathogenic	8	56113567	56113567	Human	1	name
329847339	CV2543810	single nucleotide variant	NM_005372.1(MOS):c.737G>A (p.Arg246His)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228746]	pathogenic	8	56113246	56113246	Human	1	name
329847340	CV2543811	single nucleotide variant	NM_005372.1(MOS):c.875C>T (p.Ala292Val)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228747]	pathogenic\|uncertain significance	8	56113108	56113108	Human	1	name
329847341	CV2543812	single nucleotide variant	NM_005372.1(MOS):c.960C>A (p.Cys320Ter)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228748]	pathogenic	8	56113023	56113023	Human	1	name
329847343	CV2543814	single nucleotide variant	NM_005372.1(MOS):c.956G>A (p.Arg319His)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228750]	pathogenic	8	56113027	56113027	Human	1	name
329847344	CV2543815	single nucleotide variant	NM_005372.1(MOS):c.791C>G (p.Ser264Cys)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228751]	pathogenic	8	56113192	56113192	Human	1	name
329847345	CV2543816	single nucleotide variant	NM_005372.1(MOS):c.596A>T (p.His199Leu)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228752]	pathogenic\|uncertain significance	8	56113387	56113387	Human	1	name
329847346	CV2543817	single nucleotide variant	NM_005372.1(MOS):c.591T>G (p.Ile197Met)	Oocyte/zygote/embryo maturation arrest 20 [RCV003228753]	pathogenic	8	56113392	56113392	Human	1	name
401760222	CV2718760	single nucleotide variant	NM_005372.1(MOS):c.299G>A (p.Arg100Gln)	not specified [RCV004328513]	likely benign	8	56113684	56113684	Human		name
405722871	CV3358916	single nucleotide variant	NM_005372.1(MOS):c.982A>G (p.Arg328Gly)	not specified [RCV004495420]	uncertain significance	8	56113001	56113001	Human		name
407496048	CV3453896	single nucleotide variant	NM_005372.1(MOS):c.859C>G (p.Leu287Val)	not specified [RCV004643367]	uncertain significance	8	56113124	56113124	Human		name
407518960	CV3453897	single nucleotide variant	NM_005372.1(MOS):c.460G>A (p.Ala154Thr)	not specified [RCV004629066]	uncertain significance	8	56113523	56113523	Human		name
407518964	CV3453899	single nucleotide variant	NM_005372.1(MOS):c.959G>T (p.Cys320Phe)	not specified [RCV004629068]	uncertain significance	8	56113024	56113024	Human		name
596945770	CV3548058	single nucleotide variant	NM_005372.1(MOS):c.349A>G (p.Ile117Val)	not provided [RCV004809389]	uncertain significance	8	56113634	56113634	Human		name
597637113	CV3563934	single nucleotide variant	NM_005372.1(MOS):c.736C>A (p.Arg246Ser)	not specified [RCV004824686]	uncertain significance	8	56113247	56113247	Human		name
597660565	CV3563935	single nucleotide variant	NM_005372.1(MOS):c.731C>A (p.Thr244Asn)	not specified [RCV004828395]	uncertain significance	8	56113252	56113252	Human		name
597637118	CV3563937	single nucleotide variant	NM_005372.1(MOS):c.743C>T (p.Pro248Leu)	not specified [RCV004824687]	uncertain significance	8	56113240	56113240	Human		name
597660578	CV3563938	single nucleotide variant	NM_005372.1(MOS):c.470A>G (p.His157Arg)	not specified [RCV004828397]	uncertain significance	8	56113513	56113513	Human		name
598168023	CV3986309	single nucleotide variant	NM_005372.1(MOS):c.637G>A (p.Asp213Asn)	not specified [RCV005369628]	uncertain significance	8	56113346	56113346	Human		name
616939821	CV4014462	single nucleotide variant	NM_005372.1(MOS):c.729C>G (p.Tyr243Ter)	not provided [RCV005413956]	uncertain significance	8	56113254	56113254	Human		name
156232037	CV2273629	single nucleotide variant	NM_005372.1(MOS):c.1010A>C (p.Asp337Ala)	not specified [RCV004132301]	uncertain significance	8	56112973	56112973	Human		name
155957678	CV2304185	single nucleotide variant	NM_005372.1(MOS):c.1019C>G (p.Ser340Cys)	not specified [RCV004170210]	uncertain significance	8	56112964	56112964	Human		name
151350538	CV1325606	single nucleotide variant	NM_001101.5(ACTB):c.439C>T (p.Arg147Cys)	BECKER NEVUS SYNDROME, SOMATIC, MOSAIC [RCV003320379]\|BECKER NEVUS, SOMATIC, MOSAIC [RCV003320380]\|Baraitser-Winter syndrome 1 [RCV001814893]\|Becker nevus syndrome [RCV005251290]\|CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, ... (more) MOSAIC [RCV003320381]	pathogenic	7	5528644	5528644	Human	4	trait
8687075	CV137506	single nucleotide variant	NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile)	Mosaic variegated aneuploidy syndrome 1 [RCV000765204]\|Mosaic variegated aneuploidy syndrome 1 [RCV002228398]\|Mosaic variegated aneuploidy syndrome 1 [RCV005008020]\|not provided [RCV0017 ... (more) 53502]\|not specified [RCV000120417]	uncertain significance\|not provided	15	40200320	40200320	Human	2	trait
8687086	CV137518	single nucleotide variant	NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV000472793]\|Mosaic variegated aneuploidy syndrome 1 [RCV000763966]\|Mosaic variegated aneuploidy syndrome [RCV001543132]\|not provided [RCV001762 ... (more) 250]\|not specified [RCV000120430]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	15	40185585	40185585	Human	3	trait
13500540	CV464178	single nucleotide variant	NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)	Mosaic variegated aneuploidy syndrome 1 [RCV002231798]\|Mosaic variegated aneuploidy syndrome 1 [RCV002476149]\|Mosaic variegated aneuploidy syndrome [RCV000540478]	uncertain significance	15	40170539	40170539	Human	3	trait
13610452	CV528761	single nucleotide variant	NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg)	Inborn genetic diseases [RCV003162886]\|Mosaic variegated aneuploidy syndrome 1 [RCV000763967]\|Mosaic variegated aneuploidy syndrome 1 [RCV002233502]\|Mosaic variegated aneuploidy syndrome ... (more) 1 [RCV005010622]	uncertain significance	15	40199687	40199687	Human	3	trait
15172568	CV731451	single nucleotide variant	NM_152581.4(MOSPD2):c.993-5C>A	not provided [RCV000883865]	benign	X	14914498	14914498	Human		name
8587190	CV121817	single nucleotide variant	NM_019556.1(MOSPD1):c.-102+2114A>G	Lung cancer [RCV000102337]	uncertain significance	X	134913068	134913068	Human		name
126752379	CV1031979	single nucleotide variant	NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys)	Inborn genetic diseases [RCV003169595]\|Mosaic variegated aneuploidy syndrome 1 [RCV002242466]\|Mosaic variegated aneuploidy syndrome 1 [RCV002486351]	uncertain significance	15	40170116	40170116	Human	3	trait
126911113	CV1048906	single nucleotide variant	NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV001362862]\|Mosaic variegated aneuploidy syndrome 1 [RCV002493852]	uncertain significance	15	40176550	40176550	Human	2	trait
126911107	CV1048919	single nucleotide variant	NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV001360390]\|Mosaic variegated aneuploidy syndrome 1 [RCV005005878]	uncertain significance	15	40217627	40217627	Human	2	trait
127286357	CV1161934	single nucleotide variant	NM_001211.6(BUB1B):c.698A>G (p.Lys233Arg)	Inborn genetic diseases [RCV002368552]\|Mosaic variegated aneuploidy syndrome 1 [RCV003617929]\|Mosaic variegated aneuploidy syndrome [RCV001526826]	uncertain significance	15	40183830	40183830	Human	3	trait
150557177	CV1310528	single nucleotide variant	NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg)	Inborn genetic diseases [RCV002425068]\|Mosaic variegated aneuploidy syndrome 1 [RCV002034504]\|Mosaic variegated aneuploidy syndrome [RCV001775456]	uncertain significance	15	40196569	40196569	Human	3	trait
151733050	CV1336483	single nucleotide variant	NM_001101.5(ACTB):c.439C>A (p.Arg147Ser)	BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC [RCV003320383]\|Becker nevus syndrome [RCV005251292]\|CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC [RCV003320384]\|Congenital smooth muscle hamartoma [RCV00184 ... (more) 9711]	pathogenic\|likely pathogenic	7	5528644	5528644	Human	3	trait
8687074	CV137505	single nucleotide variant	NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn)	Inborn genetic diseases [RCV004019672]\|Mosaic variegated aneuploidy syndrome 1 [RCV002228397]\|Mosaic variegated aneuploidy syndrome 1 [RCV005008019]\|not specified [RCV000120416]	uncertain significance\|not provided	15	40200306	40200306	Human	3	trait
8687084	CV137516	single nucleotide variant	NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp)	Inborn genetic diseases [RCV002408626]\|Mosaic variegated aneuploidy syndrome 1 [RCV000763965]\|Mosaic variegated aneuploidy syndrome 1 [RCV002228400]\|not provided [RCV004567041]\|not specified [RCV000120428]	likely benign\|uncertain significance\|not provided	15	40185218	40185218	Human	3	trait
151891254	CV1496260	single nucleotide variant	NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val)	BUB1B-related disorder [RCV003407886]\|Inborn genetic diseases [RCV003164281]\|Mosaic variegated aneuploidy syndrome 1 [RCV001888655]\|Mosaic variegated aneuploidy syndrome 1 [RCV005006144]	uncertain significance	15	40196649	40196649	Human	6	trait
151798234	CV1503910	single nucleotide variant	NM_001211.6(BUB1B):c.596G>A (p.Arg199Gln)	Inborn genetic diseases [RCV002352684]\|Mosaic variegated aneuploidy syndrome 1 [RCV001973668]\|Mosaic variegated aneuploidy syndrome 1 [RCV005008337]	uncertain significance	15	40183728	40183728	Human	3	trait
152169084	CV1598518	single nucleotide variant	NM_001211.6(BUB1B):c.751+15C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002142669]\|Mosaic variegated aneuploidy syndrome 1 [RCV002508093]\|not provided [RCV004715620]	benign\|likely benign	15	40183898	40183898	Human	2	trait
8597254	CV21797	single nucleotide variant	NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)	Carcinoma of colon [RCV000007150]\|Mosaic variegated aneuploidy syndrome 1 [RCV000989284]\|Mosaic variegated aneuploidy syndrome 1 [RCV002482837]\|not provided [RCV001594817]\|not specified [RCV000120422]	pathogenic\|benign\|likely benign\|other\|not provided	15	40165136	40165136	Human	3	trait
8597256	CV21800	single nucleotide variant	NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe)	Mosaic variegated aneuploidy syndrome 1 [RCV000007154]\|Mosaic variegated aneuploidy syndrome 1 [RCV002504759]\|Premature chromatid separation trait [RCV000007155]	pathogenic\|affects\|uncertain significance	15	40212643	40212643	Human	3	trait
8597257	CV21801	single nucleotide variant	NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)	Inborn genetic diseases [RCV004018580]\|Mosaic variegated aneuploidy syndrome 1 [RCV000007156]\|Mosaic variegated aneuploidy syndrome 1 [RCV005007832]\|Premature chromatid separation trait [RCV000007157]\|not provided [RCV001552 ... (more) 489]	pathogenic\|affects\|conflicting interpretations of pathogenicity\|uncertain significance	15	40217580	40217580	Human	4	trait
8597259	CV21804	single nucleotide variant	NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV000007162]\|Mosaic variegated aneuploidy syndrome 1 [RCV002482838]\|Premature chromatid separation trait [RCV000007163]\|not specified [RCV002509147]	pathogenic\|affects\|uncertain significance	15	40220641	40220641	Human	3	trait
11346882	CV242041	single nucleotide variant	NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)	Inborn genetic diseases [RCV003165612]\|Mosaic variegated aneuploidy syndrome 1 [RCV000765205]\|Mosaic variegated aneuploidy syndrome 1 [RCV002229656]\|not provided [RCV001357479]	uncertain significance	15	40202590	40202590	Human	3	trait
405129603	CV2944003	single nucleotide variant	NM_001211.6(BUB1B):c.74G>A (p.Ser25Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV003618133]\|Mosaic variegated aneuploidy syndrome 1 [RCV005013069]	uncertain significance	15	40165091	40165091	Human	2	trait
597708800	CV3707825	deletion	NM_001211.6(BUB1B):c.243del (p.Arg80_Tyr81insTer)	Mosaic variegated aneuploidy syndrome 1 [RCV005009545]\|Mosaic variegated aneuploidy syndrome 1 [RCV005112586]	pathogenic\|likely pathogenic	15	40170540	40170540	Human	2	trait
8568239	CV39235	single nucleotide variant	NM_001211.6(BUB1B):c.2386-11A>G	Mosaic variegated aneuploidy syndrome 1 [RCV000023213]\|Mosaic variegated aneuploidy syndrome 1 [RCV005007890]\|Premature chromatid separation trait [RCV000023214]	pathogenic\|likely pathogenic\|affects\|conflicting interpretations of pathogenicity\|uncertain significance	15	40212488	40212488	Human	3	trait
8568515	CV39648	duplication	NM_014679.5(CEP57):c.915_925dup (p.Leu309fs)	Mosaic variegated aneuploidy syndrome 1 [RCV000656492]\|Mosaic variegated aneuploidy syndrome 2 [RCV000023669]\|not provided [RCV005234795]	pathogenic	11	95827811	95827812	Human	2	trait
12891242	CV400082	microsatellite	NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del)	Inborn genetic diseases [RCV002522756]\|Mosaic variegated aneuploidy syndrome 1 [RCV002230306]\|Mosaic variegated aneuploidy syndrome 1 [RCV002481362]\|not provided [RCV002469151]	uncertain significance	15	40196654	40196656	Human		trait
12885804	CV400088	single nucleotide variant	NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys)	Inborn genetic diseases [RCV004601171]\|Mosaic variegated aneuploidy syndrome 1 [RCV000466079]\|Mosaic variegated aneuploidy syndrome 1 [RCV005010331]	uncertain significance	15	40220585	40220585	Human	3	trait
12883261	CV400251	single nucleotide variant	NM_001211.6(BUB1B):c.2351C>T (p.Ala784Val)	Inborn genetic diseases [RCV003168719]\|Mosaic variegated aneuploidy syndrome 1 [RCV002230087]\|Mosaic variegated aneuploidy syndrome 1 [RCV005010332]	uncertain significance	15	40210176	40210176	Human	3	trait
12888267	CV400565	single nucleotide variant	NM_001211.6(BUB1B):c.440T>C (p.Ile147Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV002230311]\|Mosaic variegated aneuploidy syndrome 1 [RCV005010333]\|See cases [RCV002252130]	uncertain significance	15	40176532	40176532	Human	2	trait
12882715	CV400896	single nucleotide variant	NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV000765203]\|Mosaic variegated aneuploidy syndrome 1 [RCV002230086]	uncertain significance	15	40200295	40200295	Human	2	trait
13491585	CV464183	single nucleotide variant	NM_001211.6(BUB1B):c.1875A>G (p.Ile625Met)	Mosaic variegated aneuploidy syndrome 1 [RCV002232284]\|Mosaic variegated aneuploidy syndrome 1 [RCV005010507]	uncertain significance	15	40206324	40206324	Human	2	trait
13467091	CV464982	single nucleotide variant	NM_001211.6(BUB1B):c.542A>G (p.Gln181Arg)	Inborn genetic diseases [RCV002350275]\|Mosaic variegated aneuploidy syndrome 1 [RCV002232288]\|Mosaic variegated aneuploidy syndrome 1 [RCV005010508]	likely benign\|uncertain significance	15	40176634	40176634	Human	3	trait
13627075	CV529130	single nucleotide variant	NM_001211.6(BUB1B):c.1227A>C (p.Glu409Asp)	Inborn genetic diseases [RCV002533257]\|Mosaic variegated aneuploidy syndrome 1 [RCV002233500]\|Mosaic variegated aneuploidy syndrome 1 [RCV005010621]\|not provided [RCV002264967]	uncertain significance	15	40196713	40196713	Human	3	trait
13610446	CV529267	single nucleotide variant	NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu)	Mosaic variegated aneuploidy syndrome 1 [RCV000763964]\|Mosaic variegated aneuploidy syndrome 1 [RCV002233057]	uncertain significance	15	40183869	40183869	Human	2	trait
13807855	CV569337	single nucleotide variant	NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile)	Inborn genetic diseases [RCV002533619]\|Mosaic variegated aneuploidy syndrome 1 [RCV001331826]\|Mosaic variegated aneuploidy syndrome 1 [RCV002477614]\|not provided [RCV004692168]	uncertain significance	15	40206392	40206392	Human	3	trait
14724619	CV643147	single nucleotide variant	NM_001211.6(BUB1B):c.2271G>T (p.Lys757Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV002235044]\|Mosaic variegated aneuploidy syndrome 1 [RCV005012357]	uncertain significance	15	40209762	40209762	Human	2	trait
14725199	CV643151	single nucleotide variant	NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln)	Inborn genetic diseases [RCV002433979]\|Mosaic variegated aneuploidy syndrome 1 [RCV002235057]\|Mosaic variegated aneuploidy syndrome 1 [RCV005012358]\|not provided [RCV003238237]	uncertain significance	15	40217609	40217609	Human	3	trait
26890103	CV820690	deletion	NC_000015.10:g.(?_40183704)_(40185652_?)del	Mosaic variegated aneuploidy syndrome 1 [RCV001374002]\|Mosaic variegated aneuploidy syndrome [RCV001031520]	uncertain significance				Human	2	trait
26884587	CV842255	single nucleotide variant	NM_001211.6(BUB1B):c.464A>G (p.Tyr155Cys)	Mosaic variegated aneuploidy syndrome 1 [RCV002240154]\|Mosaic variegated aneuploidy syndrome 1 [RCV005012475]\|not provided [RCV003238280]	uncertain significance	15	40176556	40176556	Human	2	trait
26921375	CV842256	single nucleotide variant	NM_001211.6(BUB1B):c.484T>C (p.Tyr162His)	Mosaic variegated aneuploidy syndrome 1 [RCV002240390]\|Mosaic variegated aneuploidy syndrome 1 [RCV005012510]	uncertain significance	15	40176576	40176576	Human	2	trait
38490168	CV927307	single nucleotide variant	NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala)	Mosaic variegated aneuploidy syndrome 1 [RCV002241293]\|Mosaic variegated aneuploidy syndrome 1 [RCV002504282]	uncertain significance	15	40220628	40220628	Human	2	trait
38465648	CV936905	single nucleotide variant	NM_001211.6(BUB1B):c.959A>G (p.Glu320Gly)	Inborn genetic diseases [RCV003163615]\|Mosaic variegated aneuploidy syndrome 1 [RCV002241204]\|Mosaic variegated aneuploidy syndrome 1 [RCV005012615]	uncertain significance	15	40185372	40185372	Human	3	trait
126737318	CV996227	single nucleotide variant	NM_001211.6(BUB1B):c.1150A>G (p.Ser384Gly)	Inborn genetic diseases [RCV004035641]\|Mosaic variegated aneuploidy syndrome 1 [RCV002241815]\|Mosaic variegated aneuploidy syndrome 1 [RCV005012732]\|not provided [RCV001751559]	uncertain significance	15	40196636	40196636	Human	3	trait
126730768	CV1020587	indel	NM_139027.6(ADAMTS13):c.2164_2170delinsCCAAGGGA (p.Val722fs)	Upshaw-Schulman syndrome [RCV001333527]	pathogenic	9	133442673	133442679	Human		alternate_id
126730771	CV1020588	single nucleotide variant	NM_139027.6(ADAMTS13):c.2866C>T (p.Gln956Ter)	Upshaw-Schulman syndrome [RCV001333528]	pathogenic	9	133449787	133449787	Human		alternate_id
156022590	CV2055610	deletion	NM_139027.6(ADAMTS13):c.2920_2938del (p.Ile974fs)	Thrombotic thrombocytopenic purpura [RCV004700837]\|not provided [RCV002820685]	pathogenic	9	133449839	133449857	Human	1	alternate_id
8558935	CV20842	single nucleotide variant	NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly)	Thrombotic thrombocytopenic purpura [RCV004700192]\|Upshaw-Schulman syndrome [RCV000006159]\|not provided [RCV002512821]	pathogenic\|likely pathogenic	9	133454440	133454440	Human	1	alternate_id
405000113	CV2852389	deletion	NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)	Thrombotic thrombocytopenic purpura [RCV003493333]	pathogenic	9	133423148	133423148	Human	1	alternate_id
407428217	CV3410136	deletion	NM_139027.6(ADAMTS13):c.799_808del (p.Arg267fs)	Thrombotic thrombocytopenic purpura [RCV004587743]	pathogenic	9	133428741	133428750	Human	1	alternate_id
13786209	CV550300	single nucleotide variant	NM_139027.6(ADAMTS13):c.3400+141G>A	Thrombotic thrombocytopenic purpura [RCV000677302]\|Upshaw-Schulman syndrome [RCV001169110]\|not provided [RCV000960911]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	9	133455576	133455576	Human	1	alternate_id
13786212	CV550301	single nucleotide variant	NM_139027.6(ADAMTS13):c.581G>T (p.Gly194Val)	Thrombotic thrombocytopenic purpura [RCV000677303]\|not provided [RCV002531387]	pathogenic\|uncertain significance	9	133426240	133426240	Human	1	alternate_id
13789253	CV550311	single nucleotide variant	NM_139027.6(ADAMTS13):c.2209T>C (p.Cys737Arg)	Thrombotic thrombocytopenic purpura [RCV000677341]	pathogenic	9	133442718	133442718	Human	1	alternate_id
8624586	CV79696	single nucleotide variant	NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val)	Thrombotic thrombocytopenic purpura [RCV000852051]\|not provided [RCV000059757]	pathogenic\|not provided	9	133440344	133440344	Human	1	alternate_id
8624596	CV79706	single nucleotide variant	NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	ADAMTS13-related disorder [RCV003952487]\|Thrombotic thrombocytopenic purpura [RCV002469002]\|Upshaw-Schulman syndrome [RCV000779576]\|not provided [RCV000059767]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	9	133454548	133454548	Human	4	alternate_id
8624596	CV79706	single nucleotide variant	NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)	ADAMTS13-related disorder [RCV003952487]\|Thrombotic thrombocytopenic purpura [RCV002469002]\|Upshaw-Schulman syndrome [RCV000779576]\|not provided [RCV000059767]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	9	133454548	133454549	Human	4	alternate_id
243054734	CV2419143	copy number gain	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	Pallister-Killian syndrome [RCV003154827]	pathogenic				Human		alternate_id
126752735	CV1007691	single nucleotide variant	NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala)	Inborn genetic diseases [RCV002543693]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002476473]\|not provided [RCV001316369]	likely benign\|uncertain significance	7	93131890	93131890	Human	2	alternate_id
126739398	CV1007693	single nucleotide variant	NM_152703.5(SAMD9L):c.3568G>C (p.Asp1190His)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005040168]\|not provided [RCV001314236]	uncertain significance	7	93132404	93132404	Human	1	alternate_id
126764355	CV1028238	single nucleotide variant	NM_152703.5(SAMD9L):c.1549T>C (p.Trp517Arg)	Ataxia-pancytopenia syndrome [RCV001775168]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005038099]\|not provided [RCV001341629]\|not specified [RCV001820041]	uncertain significance	7	93134423	93134423	Human	2	alternate_id
126911951	CV1037829	single nucleotide variant	NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)	Ataxia-pancytopenia syndrome [RCV005055168]\|Inborn genetic diseases [RCV004960855]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005038120]\|SAMD9L-related disorder [RCV004531154]\|not provided [RCV001355967]\|not specified [RCV001820053]	likely benign\|uncertain significance	7	93133444	93133444	Human	4	alternate_id
126911884	CV1037830	single nucleotide variant	NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)	Ataxia-pancytopenia syndrome [RCV001543690]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003224557]\|SAMD9L-related disorder [RCV004528480]\|not provided [RCV001355881]\|not specified [RCV001820052]	conflicting interpretations of pathogenicity\|uncertain significance	7	93133903	93133903	Human	3	alternate_id
126919265	CV1045183	single nucleotide variant	NM_152703.5(SAMD9L):c.854G>A (p.Arg285Gln)	Inborn genetic diseases [RCV004968149]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005040231]\|not provided [RCV001373131]\|not specified [RCV004699345]	likely benign\|uncertain significance	7	93135118	93135118	Human	2	alternate_id
127312666	CV1155798	single nucleotide variant	NM_152703.5(SAMD9L):c.1565C>T (p.Ala522Val)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005395054]\|not provided [RCV001519024]	benign	7	93134407	93134407	Human	1	alternate_id
150550910	CV1308736	single nucleotide variant	NM_152703.5(SAMD9L):c.1934T>A (p.Leu645Gln)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005397005]\|not provided [RCV001766240]	uncertain significance	7	93134038	93134038	Human	1	alternate_id
150557178	CV1310529	single nucleotide variant	NM_152703.5(SAMD9L):c.4654T>A (p.Tyr1552Asn)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV001775457]	likely pathogenic\|uncertain significance	7	93131318	93131318	Human	1	alternate_id
150533063	CV1310994	deletion	NM_152703.5(SAMD9L):c.987del (p.Asp330fs)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005040371]\|not provided [RCV001776729]	uncertain significance	7	93134985	93134985	Human	1	alternate_id
151347947	CV1324246	deletion	NM_152703.5(SAMD9L):c.303del (p.Asn103fs)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV001808162]	likely pathogenic	7	93135669	93135669	Human	1	alternate_id
151760681	CV1343259	single nucleotide variant	NM_152703.5(SAMD9L):c.4298T>C (p.Leu1433Pro)	Ataxia-pancytopenia syndrome [RCV004785463]\|Inborn genetic diseases [RCV004970812]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003230292]\|SAMD9L-related disorder [RCV004538745]\|not provided [RCV002024329]	likely benign\|uncertain significance	7	93131674	93131674	Human	3	alternate_id
151770130	CV1366165	single nucleotide variant	NM_152703.5(SAMD9L):c.3410G>A (p.Gly1137Glu)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005042537]\|not provided [RCV001929441]	uncertain significance	7	93132562	93132562	Human	1	alternate_id
151717902	CV1483545	single nucleotide variant	NM_152703.5(SAMD9L):c.1364T>C (p.Val455Ala)	Inborn genetic diseases [RCV005271490]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002478352]\|not provided [RCV001909240]	uncertain significance	7	93134608	93134608	Human	2	alternate_id
151873882	CV1493400	single nucleotide variant	NM_152703.5(SAMD9L):c.944T>G (p.Ile315Arg)	Inborn genetic diseases [RCV005271488]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005038480]\|not provided [RCV001906827]	uncertain significance	7	93135028	93135028	Human	2	alternate_id
151872586	CV1513436	single nucleotide variant	NM_152703.5(SAMD9L):c.1957T>A (p.Leu653Met)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005038495]\|not provided [RCV001940008]	uncertain significance	7	93134015	93134015	Human	1	alternate_id
151886771	CV1514057	single nucleotide variant	NM_152703.5(SAMD9L):c.4259G>A (p.Ser1420Asn)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003230290]\|not provided [RCV001962833]	uncertain significance	7	93131713	93131713	Human	1	alternate_id
151766444	CV1516271	single nucleotide variant	NM_152703.5(SAMD9L):c.4646T>C (p.Ile1549Thr)	Inborn genetic diseases [RCV005266125]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005032129]\|not provided [RCV002024936]	likely benign\|uncertain significance	7	93131326	93131326	Human	2	alternate_id
152097353	CV1597627	single nucleotide variant	NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=)	Inborn genetic diseases [RCV004958453]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002500219]\|not provided [RCV002114867]	benign\|likely benign	7	93133656	93133656	Human	2	alternate_id
152978483	CV1671657	single nucleotide variant	NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002227762]	uncertain significance	7	93133920	93133920	Human	1	alternate_id
156369798	CV1887935	duplication	NM_152703.5(SAMD9L):c.994dup (p.Ile332fs)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005034676]\|not provided [RCV003092328]	uncertain significance	7	93134977	93134978	Human	1	alternate_id
156247187	CV1910283	single nucleotide variant	NM_152703.5(SAMD9L):c.4540A>G (p.Lys1514Glu)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005045177]\|not provided [RCV003059881]	uncertain significance	7	93131432	93131432	Human	1	alternate_id
156444298	CV1937825	single nucleotide variant	NM_152703.5(SAMD9L):c.385A>C (p.Ile129Leu)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003444365]\|SAMD9L-related disorder [RCV004738716]\|not provided [RCV003115221]	uncertain significance	7	93135587	93135587	Human	1	alternate_id
155978086	CV1972267	single nucleotide variant	NM_152703.5(SAMD9L):c.853C>T (p.Arg285Trp)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005032351]\|not provided [RCV002617476]	uncertain significance	7	93135119	93135119	Human	1	alternate_id
156160092	CV2009432	single nucleotide variant	NM_152703.5(SAMD9L):c.1096T>C (p.Phe366Leu)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003224637]\|not provided [RCV002710138]	uncertain significance	7	93134876	93134876	Human	1	alternate_id
11352229	CV243919	single nucleotide variant	NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)	Ataxia-pancytopenia syndrome [RCV000234838]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV001270307]\|SAMD9L-related disorder [RCV004737387]\|not provided [RCV003556291]	pathogenic\|likely pathogenic	7	93133332	93133332	Human	2	alternate_id
401795826	CV2742778	single nucleotide variant	NM_152703.5(SAMD9L):c.2483G>A (p.Arg828Gln)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003325276]\|not provided [RCV003777361]	uncertain significance	7	93133489	93133489	Human	1	alternate_id
401795835	CV2742787	single nucleotide variant	NM_152703.5(SAMD9L):c.2734C>G (p.Gln912Glu)	Ataxia-pancytopenia syndrome [RCV003458921]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003325285]	uncertain significance	7	93133238	93133238	Human	2	alternate_id
596924968	CV3541751	single nucleotide variant	NM_152703.5(SAMD9L):c.2675T>G (p.Met892Arg)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV004795462]	likely pathogenic	7	93133297	93133297	Human	1	alternate_id
597705155	CV3729072	deletion	NM_152703.5(SAMD9L):c.4674_4675del (p.Ser1558fs)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005048107]	uncertain significance	7	93131297	93131298	Human	1	alternate_id
597724049	CV3729073	single nucleotide variant	NM_152703.5(SAMD9L):c.2345T>G (p.Ile782Ser)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005035940]	uncertain significance	7	93133627	93133627	Human	1	alternate_id
597724037	CV3729074	single nucleotide variant	NM_152703.5(SAMD9L):c.757A>G (p.Lys253Glu)	Inborn genetic diseases [RCV005269106]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005035941]	uncertain significance	7	93135215	93135215	Human	2	alternate_id
597723539	CV3729075	single nucleotide variant	NM_152703.5(SAMD9L):c.42G>A (p.Trp14Ter)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005035942]	uncertain significance	7	93135930	93135930	Human	1	alternate_id
13466849	CV440047	single nucleotide variant	NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)	Ataxia-pancytopenia syndrome [RCV000515805]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV001270308]\|not provided [RCV001557094]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	7	93133016	93133016	Human	2	alternate_id
15104374	CV700288	single nucleotide variant	NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002502998]\|SAMD9L-related disorder [RCV004533703]\|not provided [RCV000959672]	benign\|likely benign	7	93132870	93132870	Human	3	alternate_id
15189210	CV700291	single nucleotide variant	NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV003224497]\|SAMD9L-related disorder [RCV004533677]\|not provided [RCV000954108]\|not specified [RCV001818989]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	93134756	93134756	Human	3	alternate_id
15149440	CV722738	single nucleotide variant	NM_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002507547]\|not provided [RCV000879164]	benign\|likely benign	7	93134957	93134957	Human	1	alternate_id
15121465	CV736344	single nucleotide variant	NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=)	Inborn genetic diseases [RCV004958242]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002505293]\|not provided [RCV000896069]\|not specified [RCV001818711]	benign\|likely benign	7	93132008	93132008	Human	2	alternate_id
15161145	CV736346	single nucleotide variant	NM_152703.5(SAMD9L):c.695G>A (p.Arg232His)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV005392527]\|not provided [RCV000903288]	benign\|likely benign	7	93135277	93135277	Human	1	alternate_id
38597090	CV801832	single nucleotide variant	NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys)	Microcephaly [RCV001252921]\|Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV002481811]\|not provided [RCV002068805]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	93133858	93133858	Human	3	alternate_id
40903345	CV976561	single nucleotide variant	NM_152703.5(SAMD9L):c.4535T>C (p.Val1512Ala)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV001270309]\|not provided [RCV003727967]	pathogenic\|uncertain significance	7	93131437	93131437	Human	1	alternate_id
40904078	CV976562	single nucleotide variant	NM_152703.5(SAMD9L):c.3842G>A (p.Arg1281Lys)	Monosomy 7 myelodysplasia and leukemia syndrome 1 [RCV001270310]	pathogenic	7	93132130	93132130	Human	1	alternate_id
126734856	CV1019104	deletion	NM_013386.5(SLC25A24):c.812_822+1del	Fontaine progeroid syndrome [RCV001334717]	uncertain significance	1	108154982	108154993	Human	1	alternate_id
150330887	CV1170542	single nucleotide variant	NM_013386.5(SLC25A24):c.276A>G (p.Lys92=)	Fontaine progeroid syndrome [RCV001807420]\|not provided [RCV001538345]	benign	1	108185862	108185862	Human	1	alternate_id
150487377	CV1237323	single nucleotide variant	NM_013386.5(SLC25A24):c.398+45T>C	Fontaine progeroid syndrome [RCV001807472]\|not provided [RCV001654172]	benign	1	108181896	108181896	Human	1	alternate_id
152979481	CV1675586	single nucleotide variant	NM_013386.5(SLC25A24):c.424G>A (p.Val142Met)	Fontaine progeroid syndrome [RCV002244176]	uncertain significance	1	108161268	108161268	Human	1	alternate_id
243060617	CV2408617	single nucleotide variant	NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu)	Fontaine progeroid syndrome [RCV003136746]	uncertain significance	1	108200138	108200138	Human	1	alternate_id
401855310	CV2752860	single nucleotide variant	NM_013386.5(SLC25A24):c.1346C>T (p.Pro449Leu)	Fontaine progeroid syndrome [RCV003337914]	uncertain significance	1	108136741	108136741	Human	1	alternate_id
405703707	CV3225021	single nucleotide variant	NM_013386.5(SLC25A24):c.202G>C (p.Asp68His)	Fontaine progeroid syndrome [RCV003989977]	likely benign	1	108185936	108185936	Human	1	alternate_id
407429297	CV3413684	single nucleotide variant	NM_013386.5(SLC25A24):c.931G>T (p.Val311Phe)	Fontaine progeroid syndrome [RCV004595093]	uncertain significance	1	108143710	108143710	Human	1	alternate_id
13437300	CV354197	single nucleotide variant	NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)	Fontaine progeroid syndrome [RCV000508644]\|not provided [RCV004721346]	pathogenic	1	108157482	108157482	Human	1	alternate_id
13442847	CV354272	single nucleotide variant	NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)	Fontaine progeroid syndrome [RCV000508607]\|not provided [RCV001249454]	pathogenic\|not provided	1	108157481	108157481	Human	1	alternate_id
598177758	CV4008340	single nucleotide variant	NM_013386.5(SLC25A24):c.784G>A (p.Ala262Thr)	Fontaine progeroid syndrome [RCV005393859]	uncertain significance	1	108155021	108155021	Human	1	alternate_id
155265777	CV1695934	copy number gain	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	Mosaic trisomy 2 [RCV002280628]	pathogenic				Human		trait
8564828	CV30314	single nucleotide variant	NM_000518.4(HBB):c.74G>A (p.Gly25Asp)	HEMOGLOBIN MOSCVA [RCV000016501]	other	11	5226948	5226948	Human		trait
8565275	CV30907	single nucleotide variant	NM_000558.3(HBA1):c.334G>A (p.Ala112Thr)	HEMOGLOBIN MOSELLA [RCV000017214]	other	16	177316	177316	Human		trait
153000832	CV1683849	single nucleotide variant	NM_002072.5(GNAQ):c.143G>T (p.Gly48Val)	Sturge-Weber syndrome [RCV003458178]\|not provided [RCV002254468]	pathogenic\|likely pathogenic	9	77922339	77922339	Human	1	alternate_id
597660636	CV3563949	single nucleotide variant	NM_023948.5(MOSPD3):c.5G>A (p.Arg2His)	not specified [RCV004828405]	uncertain significance	7	100612796	100612796	Human		name
12838138	CV362834	single nucleotide variant	NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu)	Sturge-Weber syndrome [RCV004563306]	pathogenic\|likely pathogenic	9	77794572	77794572	Human	1	alternate_id
12847064	CV362835	single nucleotide variant	NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)	Abnormal cardiovascular system morphology [RCV001327979]\|Sturge-Weber syndrome [RCV003458165]	pathogenic	9	77794572	77794572	Human	3	alternate_id
8572449	CV59839	single nucleotide variant	NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)	Angioosteohypertrophic syndrome [RCV001526638]\|Capillary malformation [RCV000043593]\|Capillary malformation [RCV000533476]\|Familial multiple nevi flammei [RCV002294003]\|GNAQ-related disorder [RCV005229860]\|Hemangiomatosis [RCV001526543]\|Melanoma [RCV003221795]\|Segmental undergrowth associated with c ... (more) apillary malformation [RCV001705695]\|Sturge-Weber syndrome [RCV000043592]\|not provided [RCV002254275]	pathogenic\|likely pathogenic\|uncertain significance\|other	9	77797577	77797577	Human	9	alternate_id
243050441	CV2417441	microsatellite	NM_015110.4(SMC5):c.1110GAG[1] (p.Arg372del)	Atelis syndrome 2 [RCV003152313]	pathogenic	9	70298022	70298024	Human		alternate_id
243050443	CV2417442	single nucleotide variant	NM_015110.4(SMC5):c.1273C>T (p.Arg425Ter)	Atelis syndrome 2 [RCV003152314]	pathogenic	9	70298185	70298185	Human	1	alternate_id
243050445	CV2417443	single nucleotide variant	NM_015110.4(SMC5):c.2968C>G (p.His990Asp)	Atelis syndrome 2 [RCV003152315]	pathogenic	9	70350192	70350192	Human	1	alternate_id
243050639	CV2417444	duplication	NM_018121.4(SLF2):c.1006dup (p.Arg336fs)	Atelis syndrome 1 [RCV003152316]	pathogenic	10	100924001	100924002	Human	1	alternate_id
243050651	CV2417445	single nucleotide variant	NM_018121.4(SLF2):c.2582A>T (p.Asn861Ile)	Atelis syndrome 1 [RCV003152317]	pathogenic	10	100938664	100938664	Human	1	alternate_id
243050459	CV2417446	duplication	NM_018121.4(SLF2):c.2719dup (p.Ser907fs)	Atelis syndrome 1 [RCV003152318]	pathogenic	10	100944084	100944085	Human	1	alternate_id
243050662	CV2417447	deletion	NM_018121.4(SLF2):c.2347_2348del (p.Asp783fs)	Atelis syndrome 1 [RCV003152319]	pathogenic	10	100930988	100930989	Human	1	alternate_id
243050665	CV2417448	single nucleotide variant	NM_018121.4(SLF2):c.568C>T (p.Arg190Ter)	Atelis syndrome 1 [RCV003152320]	pathogenic	10	100916953	100916953	Human	1	alternate_id
401746083	CV2694789	single nucleotide variant	NM_023948.5(MOSPD3):c.13G>A (p.Ala5Thr)	not specified [RCV004298872]	uncertain significance	7	100612804	100612804	Human		name
156050305	CV2271868	single nucleotide variant	NM_023948.5(MOSPD3):c.50C>G (p.Pro17Arg)	not specified [RCV004130685]	uncertain significance	7	100612841	100612841	Human		name
156256429	CV2277579	single nucleotide variant	NM_023948.5(MOSPD3):c.40C>G (p.Pro14Ala)	not specified [RCV004145263]	uncertain significance	7	100612831	100612831	Human		name
155918540	CV2333022	single nucleotide variant	NM_023948.5(MOSPD3):c.79C>A (p.Pro27Thr)	not specified [RCV004194321]	uncertain significance	7	100612870	100612870	Human		name
401721640	CV2710081	single nucleotide variant	NM_019556.3(MOSPD1):c.67G>A (p.Glu23Lys)	not specified [RCV004315141]	uncertain significance	X	134899367	134899367	Human		name
401886630	CV2771349	single nucleotide variant	NM_023948.5(MOSPD3):c.65G>A (p.Arg22Gln)	not specified [RCV004348110]	uncertain significance	7	100612856	100612856	Human		name
15172562	CV729445	single nucleotide variant	NM_152581.4(MOSPD2):c.891C>T (p.Thr297=)	not provided [RCV000883864]	benign	X	14912260	14912260	Human		name
126740014	CV1018712	single nucleotide variant	NM_000516.7(GNAS):c.432+1G>T	McCune-Albright syndrome [RCV001329336]	pathogenic	20	58903792	58903792	Human	1	alternate_id
126908599	CV1038774	single nucleotide variant	NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	GNAS-related disorder [RCV004531152]\|McCune-Albright syndrome [RCV002504569]\|Progressive osseous heteroplasia [RCV001354967]\|Pseudohypoparathyroidism [RCV001358646]\|Pseudohypoparathyroidism type 1B [RCV001354116]\|Pseudohypoparathyroidism type 1C [RCV001357204]\|Pseudohypoparathyroidism type 1C [RCV00 ... (more) 5361558]\|Pseudopseudohypoparathyroidism [RCV001358585]\|not provided [RCV001698589]\|not specified [RCV005236829]	uncertain significance	20	58853803	58853803	Human	11	alternate_id
127261781	CV1087404	single nucleotide variant	NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)	GNAS-related disorder [RCV004734181]\|McCune-Albright syndrome [RCV002476746]\|not provided [RCV001420663]	uncertain significance	20	58854395	58854395	Human	9	alternate_id
150417770	CV1195523	single nucleotide variant	NM_080425.4(GNAS):c.1395A>C (p.Pro465=)	GNAS-related disorder [RCV004542017]\|McCune-Albright syndrome [RCV002501916]\|not provided [RCV001568915]	likely benign	20	58854660	58854660	Human	9	alternate_id
150409780	CV1196235	single nucleotide variant	NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)	GNAS-related disorder [RCV004536205]\|Inborn genetic diseases [RCV004039388]\|McCune-Albright syndrome [RCV002488395]\|not provided [RCV001572791]	likely benign\|uncertain significance	20	58853419	58853419	Human	10	alternate_id
150409941	CV1196240	single nucleotide variant	NM_080425.4(GNAS):c.1428C>G (p.Ala476=)	McCune-Albright syndrome [RCV002501927]\|not provided [RCV001572855]	benign\|likely benign	20	58854693	58854693	Human	1	alternate_id
150450332	CV1205261	single nucleotide variant	NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)	Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis [RCV005253866]\|GNAS-related disorder [RCV004734243]\|McCune-Albright syndrome [RCV002488424]\|not provided [RCV001585161]	uncertain significance	20	58910348	58910348	Human	9	alternate_id
150478755	CV1207721	single nucleotide variant	NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	GNAS-related disorder [RCV004734244]\|McCune-Albright syndrome [RCV002501956]\|not provided [RCV001589997]	pathogenic	20	58891817	58891817	Human	9	alternate_id
150488917	CV1274429	single nucleotide variant	NM_016592.5(GNAS):c.537G>A (p.Pro179=)	GNAS-related disorder [RCV004536255]\|McCune-Albright syndrome [RCV002506736]\|not provided [RCV001726644]\|not specified [RCV001699985]	benign\|likely benign	20	58840643	58840643	Human	9	alternate_id
150488219	CV1274443	single nucleotide variant	NM_000516.7(GNAS):c.936T>C (p.Phe312=)	GNAS-related disorder [RCV004536257]\|McCune-Albright syndrome [RCV002496023]\|not provided [RCV001699761]	likely benign	20	58910047	58910047	Human	9	alternate_id
150490006	CV1274533	single nucleotide variant	NM_000516.7(GNAS):c.357G>A (p.Leu119=)	McCune-Albright syndrome [RCV002506737]\|not provided [RCV001700611]	benign\|likely benign	20	58903716	58903716	Human	1	alternate_id
150520894	CV1289977	single nucleotide variant	NM_000516.7(GNAS):c.576G>T (p.Pro192=)	McCune-Albright syndrome [RCV002506753]\|not provided [RCV001730361]\|not specified [RCV001730362]	benign\|likely benign	20	58909207	58909207	Human	1	alternate_id
150532082	CV1306226	single nucleotide variant	NM_080425.4(GNAS):c.1275C>T (p.Phe425=)	McCune-Albright syndrome [RCV002488612]\|not provided [RCV001757415]	uncertain significance	20	58854540	58854540	Human	1	alternate_id
151232647	CV1318468	single nucleotide variant	NM_080425.4(GNAS):c.1146C>T (p.Ala382=)	McCune-Albright syndrome [RCV005400517]\|not provided [RCV001794791]	uncertain significance	20	58854411	58854411	Human	1	alternate_id
8687752	CV138214	single nucleotide variant	NM_000516.7(GNAS):c.432C>T (p.Pro144=)	McCune-Albright syndrome [RCV002498564]\|not provided [RCV000882967]\|not specified [RCV000121157]	benign\|likely benign\|not provided	20	58903791	58903791	Human	1	alternate_id
8687754	CV138218	single nucleotide variant	NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)	McCune-Albright syndrome [RCV002483218]\|not provided [RCV000948056]\|not specified [RCV000121161]	benign\|not provided	20	58854572	58854572	Human	1	alternate_id
8687755	CV138219	single nucleotide variant	NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)	GNAS-related disorder [RCV004542876]\|McCune-Albright syndrome [RCV002492424]\|not provided [RCV001547748]\|not specified [RCV000121162]	benign\|likely benign\|not provided	20	58854641	58854641	Human	9	alternate_id
8687759	CV138223	single nucleotide variant	NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)	McCune-Albright syndrome [RCV002492425]\|not provided [RCV000974148]\|not specified [RCV000121166]	benign\|likely benign\|not provided	20	58853893	58853893	Human	1	alternate_id
8687765	CV138230	single nucleotide variant	NM_080425.4(GNAS):c.484A>G (p.Met162Val)	McCune-Albright syndrome [RCV002492426]\|not provided [RCV000890289]\|not specified [RCV000121173]	benign\|likely benign\|not provided	20	58853749	58853749	Human	1	alternate_id
8687766	CV138231	single nucleotide variant	NM_080425.4(GNAS):c.988A>G (p.Ile330Val)	GNAS-related disorder [RCV004528826]\|McCune-Albright syndrome [RCV005400426]\|not provided [RCV002467573]\|not specified [RCV000121174]	benign\|uncertain significance\|not provided	20	58854253	58854253	Human	9	alternate_id
8687767	CV138232	single nucleotide variant	NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)	McCune-Albright syndrome [RCV002492427]\|not provided [RCV000514374]\|not specified [RCV000121175]	benign\|likely benign\|not provided	20	58855063	58855063	Human	1	alternate_id
8687770	CV138235	single nucleotide variant	NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)	GNAS-related disorder [RCV004528827]\|McCune-Albright syndrome [RCV002498565]\|not provided [RCV001573945]\|not specified [RCV000121178]	likely benign\|uncertain significance\|not provided	20	58854727	58854727	Human	9	alternate_id
151887330	CV1441653	single nucleotide variant	NM_000516.7(GNAS):c.1024C>T (p.Arg342Ter)	McCune-Albright syndrome [RCV005032006]\|not provided [RCV001962955]	pathogenic	20	58910387	58910387	Human	1	alternate_id
151793382	CV1467693	single nucleotide variant	NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)	McCune-Albright syndrome [RCV002479482]\|not provided [RCV001931633]	uncertain significance	20	58903726	58903726	Human	1	alternate_id
152052020	CV1523534	deletion	NM_000516.7(GNAS):c.1038+17_1038+20del	McCune-Albright syndrome [RCV002480959]\|not provided [RCV002127360]	benign\|likely benign	20	58910418	58910421	Human	1	alternate_id
152111595	CV1532080	single nucleotide variant	NM_000516.7(GNAS):c.530+11G>A	GNAS-related disorder [RCV004734461]\|Inborn genetic diseases [RCV003053466]\|McCune-Albright syndrome [RCV002494397]\|not provided [RCV002116615]	likely benign	20	58905491	58905491	Human	10	alternate_id
152117975	CV1602346	single nucleotide variant	NM_000516.7(GNAS):c.1039-4G>A	GNAS-related disorder [RCV004734444]\|McCune-Albright syndrome [RCV002494250]\|not provided [RCV002117456]	likely benign	20	58910679	58910679	Human	9	alternate_id
152100305	CV1606696	single nucleotide variant	NM_000516.7(GNAS):c.738C>T (p.Phe246=)	GNAS-related disorder [RCV004531299]\|McCune-Albright syndrome [RCV002494102]\|not provided [RCV002195461]	likely benign	20	58909703	58909703	Human	9	alternate_id
152109407	CV1617453	single nucleotide variant	NM_000516.7(GNAS):c.660-15C>A	McCune-Albright syndrome [RCV002500196]\|not provided [RCV002116353]	likely benign	20	58909506	58909506	Human	1	alternate_id
152097054	CV1636520	single nucleotide variant	NM_000516.7(GNAS):c.258-7A>C	GNAS-related disorder [RCV004531455]\|McCune-Albright syndrome [RCV002500185]\|not provided [RCV002132772]	likely benign	20	58903524	58903524	Human	9	alternate_id
152085740	CV1645259	single nucleotide variant	NM_000516.7(GNAS):c.312+17T>C	McCune-Albright syndrome [RCV002508103]\|not provided [RCV002131404]	likely benign	20	58903602	58903602	Human	1	alternate_id
152065676	CV1646875	single nucleotide variant	NM_000516.7(GNAS):c.213-11C>T	McCune-Albright syndrome [RCV002500264]\|not provided [RCV002128938]	likely benign	20	58898930	58898930	Human	1	alternate_id
152116090	CV1653715	single nucleotide variant	NM_000516.7(GNAS):c.660-19C>T	McCune-Albright syndrome [RCV002500320]\|not provided [RCV002153672]	likely benign	20	58909502	58909502	Human	1	alternate_id
152120008	CV1664897	single nucleotide variant	NM_000516.7(GNAS):c.136C>T (p.Leu46=)	GNAS-related disorder [RCV004734445]\|McCune-Albright syndrome [RCV002494255]\|not provided [RCV002117728]	likely benign	20	58891862	58891862	Human	9	alternate_id
152980658	CV1678825	single nucleotide variant	NM_000516.7(GNAS):c.683G>A (p.Arg228His)	McCune-Albright syndrome [RCV002488630]\|not provided [RCV002247220]	uncertain significance	20	58909544	58909544	Human	1	alternate_id
156318723	CV2018187	single nucleotide variant	NM_000516.7(GNAS):c.230C>T (p.Pro77Leu)	GNAS-related disorder [RCV004534167]\|McCune-Albright syndrome [RCV005025955]\|not provided [RCV002672054]	uncertain significance	20	58898958	58898958	Human	9	alternate_id
10408986	CV205793	single nucleotide variant	NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	GNAS-related disorder [RCV004530088]\|Inborn genetic diseases [RCV001265981]\|McCune-Albright syndrome [RCV002503750]\|Pseudohypoparathyroidism [RCV000191090]\|Pseudohypoparathyroidism type I A [RCV004786518]\|Pseudopseudohypoparathyroidism [RCV002051824]\|not provided [RCV003556238]	pathogenic	20	58891760	58891760	Human	12	alternate_id
10408991	CV206650	single nucleotide variant	NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)	McCune-Albright syndrome [RCV000191992]	pathogenic\|likely pathogenic\|not provided	20	58909366	58909366	Human	1	alternate_id
10408992	CV206651	single nucleotide variant	NM_000516.7(GNAS):c.679C>A (p.Gln227Lys)	McCune-Albright syndrome [RCV000191993]	pathogenic\|not provided	20	58909540	58909540	Human	1	alternate_id
10408993	CV206652	single nucleotide variant	NM_000516.7(GNAS):c.680A>T (p.Gln227Leu)	McCune-Albright syndrome [RCV000191994]	pathogenic\|likely pathogenic\|not provided	20	58909541	58909541	Human	1	alternate_id
10408994	CV206653	single nucleotide variant	NM_000516.7(GNAS):c.681G>T (p.Gln227His)	McCune-Albright syndrome [RCV000191996]	pathogenic\|not provided	20	58909542	58909542	Human	1	alternate_id
156006856	CV2175584	single nucleotide variant	NM_000516.7(GNAS):c.1121G>A (p.Arg374His)	McCune-Albright syndrome [RCV005028126]\|not provided [RCV003035037]	uncertain significance	20	58910765	58910765	Human	1	alternate_id
156329452	CV2216416	single nucleotide variant	NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn)	GNAS-related disorder [RCV004736289]\|Inborn genetic diseases [RCV002717812]\|McCune-Albright syndrome [RCV005400550]	uncertain significance	20	58854466	58854466	Human	10	alternate_id
156169723	CV2315476	single nucleotide variant	NM_023948.5(MOSPD3):c.173A>G (p.Tyr58Cys)	not specified [RCV004167423]	uncertain significance	7	100612964	100612964	Human		name
156175298	CV2331082	single nucleotide variant	NM_019556.3(MOSPD1):c.196G>A (p.Ala66Thr)	not specified [RCV004181696]	uncertain significance	X	134899124	134899124	Human		name
156124986	CV2350154	single nucleotide variant	NM_152581.4(MOSPD2):c.242A>G (p.Asn81Ser)	not specified [RCV004200074]	uncertain significance	X	14895314	14895314	Human		name
156197957	CV2400803	single nucleotide variant	NM_019556.3(MOSPD1):c.245G>A (p.Arg82Gln)	not specified [RCV004242462]	uncertain significance	X	134897020	134897020	Human		name
329368735	CV2450397	single nucleotide variant	NM_023948.5(MOSPD3):c.118G>A (p.Asp40Asn)	not specified [RCV004265330]	uncertain significance	7	100612909	100612909	Human		name
401783940	CV2720880	single nucleotide variant	NM_023948.5(MOSPD3):c.233C>T (p.Thr78Met)	not specified [RCV004328239]	uncertain significance	7	100613221	100613221	Human		name
401920424	CV2797619	single nucleotide variant	NM_000516.7(GNAS):c.529T>A (p.Tyr177Asn)	GNAS-related disorder [RCV004531721]\|McCune-Albright syndrome [RCV005036788]	uncertain significance	20	58905479	58905479	Human	9	alternate_id
402480548	CV2864038	single nucleotide variant	NM_000516.7(GNAS):c.695G>A (p.Arg232His)	McCune-Albright syndrome [RCV005030069]\|not provided [RCV003543978]	uncertain significance	20	58909556	58909556	Human	1	alternate_id
405192084	CV2984938	single nucleotide variant	NM_000516.7(GNAS):c.278A>G (p.Gln93Arg)	McCune-Albright syndrome [RCV005030172]\|not provided [RCV003706558]	uncertain significance	20	58903551	58903551	Human	1	alternate_id
8600036	CV30966	single nucleotide variant	NM_000516.7(GNAS):c.1A>G (p.Met1Val)	Cushing syndrome [RCV000763448]\|Pseudohypoparathyroidism [RCV000017278]\|not provided [RCV000522303]	pathogenic\|likely pathogenic	20	58891727	58891727	Human	5	alternate_id
8600039	CV30972	single nucleotide variant	NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558264]\|McCune-Albright syndrome [RCV000017287]\|Pituitary adenoma 3, multiple types [RCV000508635]\|Pseudohypoparathyroidism type 1B [RCV004760335]\|Sex cord-stromal tumor [RCV000017289]\|not provided [RCV002513071]	pathogenic\|likely pathogenic\|other	20	58909365	58909365	Human	5	alternate_id
8600040	CV30973	single nucleotide variant	NM_000516.7(GNAS):c.602G>A (p.Arg201His)	ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558265]\|Inborn genetic diseases [RCV004018636]\|McCune-Albright syndrome [RCV000017290]\|McCune-Albright syndrome [RCV005025061]\|Pituitary adenoma 3, multiple types [RCV000508670]\|Pseudohypoparathyroidism type I A [RCV001813747]\|Sex cord-strom ... (more) al tumor [RCV000017293]\|not provided [RCV001804738]	pathogenic\|likely pathogenic\|other	20	58909366	58909366	Human	11	alternate_id
8600041	CV30974	single nucleotide variant	NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)	McCune-Albright syndrome [RCV000191995]\|Pituitary adenoma 3, multiple types [RCV000017294]	pathogenic\|other\|not provided	20	58909541	58909541	Human	2	alternate_id
8600043	CV30976	single nucleotide variant	NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)	ACTH-independent macronodular adrenal hyperplasia 1 [RCV004558266]\|McCune-Albright syndrome [RCV000191991]\|PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC [RCV000017297]\|Polyostotic fibrous dysplasia, somatic, mosaic [RCV000017298]	pathogenic\|other\|not provided	20	58909365	58909365	Human	3	alternate_id
8565319	CV30977	deletion	NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	Disorders of GNAS Inactivation [RCV003389234]\|GNAS-related disorder [RCV004532373]\|Inborn genetic diseases [RCV003162254]\|McCune-Albright syndrome [RCV002496387]\|Progressive osseous heteroplasia [RCV000017301]\|Pseudohypoparathyroidism [RCV000017300]\|Pseudohypoparathyroidism type 1B [RCV001196108]\|Ps ... (more) eudohypoparathyroidism type 1C [RCV003227604]\|Pseudohypoparathyroidism type I A [RCV001731307]\|Pseudopseudohypoparathyroidism [RCV000017302]\|not provided [RCV001851884]\|not specified [RCV000678707]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	20	58909194	58909197	Human	12	alternate_id
8600048	CV30984	single nucleotide variant	NM_000516.7(GNAS):c.601C>G (p.Arg201Gly)	McCune-Albright syndrome [RCV000017310]	pathogenic\|other	20	58909365	58909365	Human	1	alternate_id
404977243	CV3127097	single nucleotide variant	NM_000516.7(GNAS):c.585+12C>T	McCune-Albright syndrome [RCV005038539]\|not provided [RCV003825320]	likely benign\|uncertain significance	20	58909228	58909228	Human	1	alternate_id
405268079	CV3189637	single nucleotide variant	NM_000516.7(GNAS):c.41A>G (p.Asn14Ser)	GNAS-related disorder [RCV004531806]\|McCune-Albright syndrome [RCV005030358]	uncertain significance	20	58891767	58891767	Human	9	alternate_id
405281575	CV3224222	deletion	NM_000516.7(GNAS):c.231del (p.Gln78fs)	McCune-Albright syndrome [RCV003988604]	likely pathogenic	20	58898959	58898959	Human	1	alternate_id
405723035	CV3358935	single nucleotide variant	NM_019556.3(MOSPD1):c.253C>G (p.Arg85Gly)	not specified [RCV004495439]	uncertain significance	X	134897012	134897012	Human		name
405723104	CV3358944	single nucleotide variant	NM_152581.4(MOSPD2):c.1317G>A (p.Arg439=)	not specified [RCV004495448]	likely benign	X	14918680	14918680	Human		name
405869330	CV3397752	single nucleotide variant	NM_080425.4(GNAS):c.1792C>T (p.Arg598Cys)	McCune-Albright syndrome [RCV004566503]	uncertain significance	20	58855057	58855057	Human	1	alternate_id
407496064	CV3453906	single nucleotide variant	NM_023948.5(MOSPD3):c.187A>G (p.Thr63Ala)	not specified [RCV004643372]	likely benign	7	100612978	100612978	Human		name
596927684	CV3532660	deletion	NM_000516.7(GNAS):c.445_446del (p.His149fs)	McCune-Albright syndrome [RCV005038830]\|not provided [RCV004778758]	pathogenic\|likely pathogenic	20	58905395	58905396	Human	1	alternate_id
596924638	CV3535800	single nucleotide variant	NM_080425.4(GNAS):c.788C>T (p.Ala263Val)	McCune-Albright syndrome [RCV004788230]	uncertain significance	20	58854053	58854053	Human	1	alternate_id
596924664	CV3536620	single nucleotide variant	NM_080425.4(GNAS):c.1328C>T (p.Ser443Phe)	McCune-Albright syndrome [RCV004790029]	uncertain significance	20	58854593	58854593	Human	1	alternate_id
597660585	CV3563940	single nucleotide variant	NM_152581.4(MOSPD2):c.163C>T (p.His55Tyr)	not specified [RCV004828398]	uncertain significance	X	14892806	14892806	Human		name
597660607	CV3563943	single nucleotide variant	NM_152581.4(MOSPD2):c.293A>G (p.His98Arg)	not specified [RCV004828401]	uncertain significance	X	14895365	14895365	Human		name
597660642	CV3563950	single nucleotide variant	NM_023948.5(MOSPD3):c.280A>G (p.Ile94Val)	not specified [RCV004828406]	uncertain significance	7	100613268	100613268	Human		name
597660652	CV3563953	single nucleotide variant	NM_023948.5(MOSPD3):c.100G>A (p.Val34Ile)	not specified [RCV004828407]	uncertain significance	7	100612891	100612891	Human		name
12742883	CV361065	single nucleotide variant	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	Cushing syndrome [RCV000763449]\|Obesity [RCV000414783]\|Pseudohypoparathyroidism type 1B [RCV001270163]\|not provided [RCV000760382]	pathogenic	20	58891811	58891811	Human	14	alternate_id
597705414	CV3717201	single nucleotide variant	NM_080425.4(GNAS):c.910A>G (p.Ile304Val)	McCune-Albright syndrome [RCV005029150]	uncertain significance	20	58854175	58854175	Human	1	alternate_id
597666747	CV3717202	single nucleotide variant	NM_000516.7(GNAS):c.112C>T (p.Arg38Trp)	McCune-Albright syndrome [RCV005029151]\|not provided [RCV005054499]	uncertain significance	20	58891838	58891838	Human	1	alternate_id
597666757	CV3717203	single nucleotide variant	NM_000516.7(GNAS):c.249C>G (p.Asn83Lys)	McCune-Albright syndrome [RCV005029152]	uncertain significance	20	58898977	58898977	Human	1	alternate_id
597666764	CV3717204	single nucleotide variant	NM_000516.7(GNAS):c.411G>A (p.Val137=)	McCune-Albright syndrome [RCV005029153]	uncertain significance	20	58903770	58903770	Human	1	alternate_id
597666772	CV3717205	single nucleotide variant	NM_000516.7(GNAS):c.870C>T (p.Phe290=)	McCune-Albright syndrome [RCV005029154]	uncertain significance	20	58909981	58909981	Human	1	alternate_id
597666781	CV3717206	single nucleotide variant	NM_000516.7(GNAS):c.970+1G>C	McCune-Albright syndrome [RCV005029155]	pathogenic	20	58910082	58910082	Human	1	alternate_id
597666791	CV3717207	single nucleotide variant	NM_000516.7(GNAS):c.1058G>A (p.Gly353Glu)	McCune-Albright syndrome [RCV005029156]	uncertain significance	20	58910702	58910702	Human	1	alternate_id
597666800	CV3717208	single nucleotide variant	NM_000516.7(GNAS):c.1135T>C (p.Cys379Arg)	McCune-Albright syndrome [RCV005029157]	uncertain significance	20	58910779	58910779	Human	1	alternate_id
598125782	CV3883269	single nucleotide variant	NM_000516.7(GNAS):c.433-2A>C	McCune-Albright syndrome [RCV005233144]	pathogenic	20	58905381	58905381	Human	1	alternate_id
598212210	CV4009020	single nucleotide variant	NM_080425.4(GNAS):c.1848C>T (p.Phe616=)	McCune-Albright syndrome [RCV005400633]	uncertain significance	20	58855113	58855113	Human	1	alternate_id
598212220	CV4009021	single nucleotide variant	NM_080425.4(GNAS):c.1851G>A (p.Gly617=)	McCune-Albright syndrome [RCV005400634]	uncertain significance	20	58855116	58855116	Human	1	alternate_id
598212227	CV4009022	single nucleotide variant	NM_080425.4(GNAS):c.334G>C (p.Gly112Arg)	McCune-Albright syndrome [RCV005400635]	uncertain significance	20	58853599	58853599	Human	1	alternate_id
598212236	CV4009023	single nucleotide variant	NM_080425.4(GNAS):c.568G>C (p.Gly190Arg)	McCune-Albright syndrome [RCV005400636]	uncertain significance	20	58853833	58853833	Human	1	alternate_id
12898463	CV404845	single nucleotide variant	NM_080425.4(GNAS):c.1200C>A (p.Ala400=)	Cushing syndrome [RCV000477792]	uncertain significance	20	58854465	58854465	Human	3	alternate_id
12898471	CV404846	single nucleotide variant	NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	Cushing syndrome [RCV000477956]\|McCune-Albright syndrome [RCV002481496]\|not provided [RCV000879924]\|not specified [RCV001726187]	benign\|likely benign\|uncertain significance	20	58854720	58854720	Human	5	alternate_id
13509696	CV482212	single nucleotide variant	NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)	GNAS-related disorder [RCV004527666]\|McCune-Albright syndrome [RCV002491150]\|not provided [RCV000578725]	uncertain significance	20	58853363	58853363	Human	9	alternate_id
14396359	CV612198	microsatellite	NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del)	McCune-Albright syndrome [RCV000761303]\|Pseudohypoparathyroidism type 1B [RCV002273823]	pathogenic\|likely pathogenic	20	58910787	58910789	Human		alternate_id
15189029	CV728746	single nucleotide variant	NM_000516.7(GNAS):c.75G>A (p.Lys25=)	GNAS-related disorder [RCV004530949]\|McCune-Albright syndrome [RCV002507573]\|not provided [RCV000887705]	likely benign	20	58891801	58891801	Human	9	alternate_id
15189033	CV728747	single nucleotide variant	NM_000516.7(GNAS):c.111C>T (p.Tyr37=)	GNAS-related disorder [RCV004541809]\|McCune-Albright syndrome [RCV002501436]\|not provided [RCV000887706]	likely benign	20	58891837	58891837	Human	9	alternate_id
15101602	CV731355	single nucleotide variant	NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)	McCune-Albright syndrome [RCV002501470]\|not provided [RCV000892313]	likely benign	20	58854178	58854178	Human	1	alternate_id
15163673	CV742480	single nucleotide variant	NM_000516.7(GNAS):c.366C>T (p.Pro122=)	McCune-Albright syndrome [RCV002479039]\|Pseudohypoparathyroidism [RCV001007597]\|not provided [RCV000903826]\|not specified [RCV001796813]	benign\|likely benign	20	58903725	58903725	Human	3	alternate_id
15163677	CV742481	single nucleotide variant	NM_000516.7(GNAS):c.384G>A (p.Val128=)	GNAS-related disorder [RCV004541903]\|McCune-Albright syndrome [RCV002495465]\|not provided [RCV000903827]\|not specified [RCV001796814]	benign\|likely benign	20	58903743	58903743	Human	9	alternate_id
15124961	CV742483	single nucleotide variant	NM_000516.7(GNAS):c.951C>T (p.Arg317=)	McCune-Albright syndrome [RCV002487962]\|not provided [RCV000896678]\|not specified [RCV001818720]	benign\|likely benign	20	58910062	58910062	Human	1	alternate_id
15154741	CV745439	single nucleotide variant	NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)	GNAS-related disorder [RCV004735876]\|McCune-Albright syndrome [RCV002479036]\|not provided [RCV000902012]	likely benign\|uncertain significance	20	58854223	58854223	Human	9	alternate_id
15139159	CV757628	single nucleotide variant	NM_000516.7(GNAS):c.684C>T (p.Arg228=)	GNAS-related disorder [RCV004735889]\|McCune-Albright syndrome [RCV002495539]\|not provided [RCV000921458]	likely benign	20	58909545	58909545	Human	9	alternate_id
15158336	CV757629	single nucleotide variant	NM_000516.7(GNAS):c.1131C>T (p.Asn377=)	McCune-Albright syndrome [RCV002495552]\|not provided [RCV000925048]	likely benign	20	58910775	58910775	Human	1	alternate_id
15121010	CV780146	single nucleotide variant	NM_080425.4(GNAS):c.1221C>G (p.Thr407=)	McCune-Albright syndrome [RCV002489367]\|not provided [RCV000962815]	benign\|likely benign	20	58854486	58854486	Human	1	alternate_id
21073205	CV791993	single nucleotide variant	NM_080425.4(GNAS):c.505C>T (p.Pro169Ser)	GNAS-related disorder [RCV004735924]\|McCune-Albright syndrome [RCV000990321]\|Pseudohypoparathyroidism type 1C [RCV003227882]	uncertain significance	20	58853770	58853770	Human	5	alternate_id
21073206	CV791994	microsatellite	NM_080425.4(GNAS):c.2069-6389CGGCG[3]	McCune-Albright syndrome [RCV000990322]	benign	20	58889222	58889223	Human		alternate_id
25317240	CV805116	single nucleotide variant	NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	GNAS-related disorder [RCV004536045]\|Inborn genetic diseases [RCV002549273]\|McCune-Albright syndrome [RCV002497329]\|Pseudohypoparathyroidism [RCV001007922]\|Pseudohypoparathyroidism type 1C [RCV003336225]\|Pseudohypoparathyroidism type I A [RCV002283517]\|Pseudopseudohypoparathyroidism [RCV004761863]\|n ... (more) ot provided [RCV001269956]	pathogenic\|likely pathogenic	20	58909552	58909552	Human	12	alternate_id
28879912	CV860659	duplication	NM_000516.7(GNAS):c.348dup (p.Val117fs)	GNAS-related disorder [RCV004734008]\|McCune-Albright syndrome [RCV002489729]\|Pseudohypoparathyroidism type I A [RCV002250726]\|not provided [RCV001090864]	pathogenic	20	58903701	58903702	Human	9	alternate_id
38461682	CV919922	single nucleotide variant	NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)	GNAS-related disorder [RCV004528410]\|McCune-Albright syndrome [RCV002497679]\|Pseudohypoparathyroidism type 1B [RCV001197837]\|Pseudohypoparathyroidism type 1C [RCV003227930]	likely benign\|uncertain significance	20	58854541	58854541	Human	9	alternate_id
38460380	CV919923	single nucleotide variant	NM_080425.4(GNAS):c.1323C>T (p.Pro441=)	McCune-Albright syndrome [RCV002491595]\|Pseudohypoparathyroidism type 1B [RCV001196583]	uncertain significance	20	58854588	58854588	Human	2	alternate_id
156048555	CV2271734	single nucleotide variant	NM_152581.4(MOSPD2):c.733G>T (p.Val245Leu)	not specified [RCV004130581]	uncertain significance	X	14911267	14911267	Human		name
156278918	CV2297555	single nucleotide variant	NM_023948.5(MOSPD3):c.535A>G (p.Ser179Gly)	not specified [RCV004155262]	uncertain significance	7	100614890	100614890	Human		name
156176571	CV2327111	single nucleotide variant	NM_152581.4(MOSPD2):c.364A>T (p.Ile122Leu)	not specified [RCV004178681]	uncertain significance	X	14897125	14897125	Human		name
156344097	CV2384667	single nucleotide variant	NM_023948.5(MOSPD3):c.331C>A (p.Arg111Ser)	not specified [RCV004232443]	uncertain significance	7	100613526	100613526	Human		name
156113157	CV2397019	single nucleotide variant	NM_023948.5(MOSPD3):c.458G>A (p.Arg153His)	not specified [RCV004236536]	likely benign	7	100613653	100613653	Human		name
329384761	CV2435193	single nucleotide variant	NM_019556.3(MOSPD1):c.515C>T (p.Ala172Val)	not specified [RCV004252830]	uncertain significance	X	134891574	134891574	Human		name
329374495	CV2463603	single nucleotide variant	NM_152581.4(MOSPD2):c.733G>A (p.Val245Ile)	not specified [RCV004277402]	uncertain significance	X	14911267	14911267	Human		name
401744987	CV2681165	single nucleotide variant	NM_152581.4(MOSPD2):c.956C>G (p.Pro319Arg)	not specified [RCV004289308]	uncertain significance	X	14912325	14912325	Human		name
401717685	CV2710503	single nucleotide variant	NM_019556.3(MOSPD1):c.395G>T (p.Arg132Ile)	not specified [RCV004319433]	uncertain significance	X	134896870	134896870	Human		name
405723281	CV3358966	single nucleotide variant	NM_152581.4(MOSPD2):c.956C>T (p.Pro319Leu)	not specified [RCV004495470]	uncertain significance	X	14912325	14912325	Human		name
405723660	CV3358984	single nucleotide variant	NM_023948.5(MOSPD3):c.332G>A (p.Arg111His)	not specified [RCV004495488]	uncertain significance	7	100613527	100613527	Human		name
405723643	CV3358986	single nucleotide variant	NM_023948.5(MOSPD3):c.340A>G (p.Ile114Val)	not specified [RCV004495490]	uncertain significance	7	100613535	100613535	Human		name
405723323	CV3358995	single nucleotide variant	NM_023948.5(MOSPD3):c.701G>A (p.Arg234Gln)	not specified [RCV004495499]	uncertain significance	7	100615176	100615176	Human		name
407518966	CV3453900	single nucleotide variant	NM_019556.3(MOSPD1):c.346A>G (p.Thr116Ala)	not specified [RCV004629069]	uncertain significance	X	134896919	134896919	Human		name
407518968	CV3453901	single nucleotide variant	NM_019556.3(MOSPD1):c.548C>T (p.Ser183Leu)	not specified [RCV004629070]	uncertain significance	X	134891541	134891541	Human		name
407496057	CV3453904	single nucleotide variant	NM_152581.4(MOSPD2):c.460A>T (p.Thr154Ser)	not specified [RCV004643370]	uncertain significance	X	14897221	14897221	Human		name
407496061	CV3453905	single nucleotide variant	NM_023948.5(MOSPD3):c.491C>T (p.Thr164Met)	not specified [RCV004643371]	uncertain significance	7	100613686	100613686	Human		name
597637124	CV3563939	single nucleotide variant	NM_019556.3(MOSPD1):c.332A>G (p.Lys111Arg)	not specified [RCV004824688]	uncertain significance	X	134896933	134896933	Human		name
597660622	CV3563945	single nucleotide variant	NM_152581.4(MOSPD2):c.386T>C (p.Ile129Thr)	not specified [RCV004828403]	uncertain significance	X	14897147	14897147	Human		name
597637130	CV3563946	single nucleotide variant	NM_023948.5(MOSPD3):c.700C>T (p.Arg234Trp)	not specified [RCV004824689]	uncertain significance	7	100615175	100615175	Human		name
597660628	CV3563947	single nucleotide variant	NM_023948.5(MOSPD3):c.424C>T (p.Leu142Phe)	not specified [RCV004828404]	uncertain significance	7	100613619	100613619	Human		name
597637134	CV3563948	single nucleotide variant	NM_023948.5(MOSPD3):c.317A>G (p.Tyr106Cys)	not specified [RCV004824690]	uncertain significance	7	100613512	100613512	Human		name
597637138	CV3563951	single nucleotide variant	NM_023948.5(MOSPD3):c.610G>A (p.Gly204Ser)	not specified [RCV004824691]	likely benign	7	100614965	100614965	Human		name
598201265	CV3986310	single nucleotide variant	NM_152581.4(MOSPD2):c.817A>G (p.Ser273Gly)	not specified [RCV005375997]	uncertain significance	X	14911351	14911351	Human		name
156272618	CV2333942	single nucleotide variant	NM_152581.4(MOSPD2):c.1211G>A (p.Arg404His)	not specified [RCV004183474]	uncertain significance	X	14916221	14916221	Human		name
405722911	CV3358920	single nucleotide variant	NM_001164579.2(MOSMO):c.176C>G (p.Pro59Arg)	not specified [RCV004495424]	uncertain significance	16	22075556	22075556	Human		name
405722944	CV3358924	single nucleotide variant	NM_001164579.2(MOSMO):c.244A>G (p.Thr82Ala)	not specified [RCV004495428]	uncertain significance	16	22075624	22075624	Human		name
405723119	CV3358946	single nucleotide variant	NM_152581.4(MOSPD2):c.1373A>G (p.Asn458Ser)	not specified [RCV004495450]	uncertain significance	X	14918736	14918736	Human		name
405723146	CV3358950	single nucleotide variant	NM_152581.4(MOSPD2):c.1469G>A (p.Arg490His)	not specified [RCV004495454]	uncertain significance	X	14919721	14919721	Human		name
407496049	CV3453902	single nucleotide variant	NM_152581.4(MOSPD2):c.1477T>A (p.Trp493Arg)	not specified [RCV004643368]	uncertain significance	X	14919729	14919729	Human		name
407496054	CV3453903	single nucleotide variant	NM_152581.4(MOSPD2):c.1442A>G (p.Asn481Ser)	not specified [RCV004643369]	uncertain significance	X	14919694	14919694	Human		name
597660591	CV3563941	single nucleotide variant	NM_152581.4(MOSPD2):c.1295G>A (p.Arg432Lys)	not specified [RCV004828399]	uncertain significance	X	14916305	14916305	Human		name
597660613	CV3563944	single nucleotide variant	NM_152581.4(MOSPD2):c.1361C>T (p.Thr454Met)	not specified [RCV004828402]	uncertain significance	X	14918724	14918724	Human		name
598168029	CV3986311	single nucleotide variant	NM_152581.4(MOSPD2):c.1409T>C (p.Ile470Thr)	not specified [RCV005369629]	uncertain significance	X	14918772	14918772	Human		name
598168035	CV3986313	single nucleotide variant	NM_152581.4(MOSPD2):c.1124A>G (p.Lys375Arg)	not specified [RCV005369630]	uncertain significance	X	14915702	14915702	Human		name
8632225	CV87431	single nucleotide variant	NM_001040097.1(MOSPD3):c.457C>T (p.Arg153Cys)	Malignant melanoma [RCV000067522]	not provided	7	100613652	100613652	Human		name
127286351	CV1161933	single nucleotide variant	NM_001211.6(BUB1B):c.667C>T (p.Gln223Ter)	Mosaic variegated aneuploidy syndrome [RCV001526801]	likely pathogenic	15	40183799	40183799	Human	1	trait
13212914	CV425300	deletion	NM_014679.5(CEP57):c.724del (p.Arg242fs)	Mosaic variegated aneuploidy syndrome [RCV000498788]	pathogenic	11	95821895	95821895	Human	1	trait
13818911	CV569202	duplication	NC_000015.9:g.(?_40453416)_(40512966_?)dup	Mosaic variegated aneuploidy syndrome [RCV000708012]	uncertain significance	15	40161215	40220765	Human	1	trait
126757091	CV986541	duplication	NC_000015.9:g.(?_40453416)_(40512966_?)dup	Mosaic variegated aneuploidy syndrome [RCV001308311]	uncertain significance				Human		trait
126769933	CV1011458	single nucleotide variant	NM_001211.6(BUB1B):c.293T>A (p.Met98Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV002242110]	uncertain significance	15	40170590	40170590	Human	1	trait
126759147	CV1011462	single nucleotide variant	NM_001211.6(BUB1B):c.572C>A (p.Ser191Tyr)	Mosaic variegated aneuploidy syndrome 1 [RCV002241987]	uncertain significance	15	40176664	40176664	Human	1	trait
126751488	CV1011466	single nucleotide variant	NM_001211.6(BUB1B):c.1184A>G (p.Lys395Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002242168]	uncertain significance	15	40196670	40196670	Human	1	trait
126755876	CV1011467	single nucleotide variant	NM_001211.6(BUB1B):c.1280A>G (p.Gln427Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002242175]	uncertain significance	15	40196766	40196766	Human	1	trait
126740339	CV1011469	deletion	NM_001211.6(BUB1B):c.1568-8_1568-5del	Mosaic variegated aneuploidy syndrome 1 [RCV002242143]	uncertain significance	15	40202394	40202397	Human	1	trait
126740933	CV1011470	single nucleotide variant	NM_001211.6(BUB1B):c.1993A>C (p.Ser665Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002241937]	uncertain significance	15	40206442	40206442	Human	1	trait
126759647	CV1011471	single nucleotide variant	NM_001211.6(BUB1B):c.2143+5G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002241990]	uncertain significance	15	40208775	40208775	Human	1	trait
126739583	CV1011474	single nucleotide variant	NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002242141]	uncertain significance	15	40218502	40218502	Human	1	trait
126726269	CV1017543	single nucleotide variant	NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV001331873]	pathogenic	11	95827915	95827915	Human	1	trait
126726182	CV1017901	single nucleotide variant	NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV001331827]	uncertain significance	15	40185270	40185270	Human	1	trait
126726179	CV1017902	single nucleotide variant	NM_001211.6(BUB1B):c.1327C>T (p.Gln443Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001331825]	pathogenic	15	40199653	40199653	Human		trait
126751810	CV1030600	single nucleotide variant	NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001338313]	uncertain significance	11	95831219	95831219	Human	1	trait
126773845	CV1031976	duplication	NM_001211.6(BUB1B):c.2dup (p.Met1fs)	Mosaic variegated aneuploidy syndrome 1 [RCV002242501]	uncertain significance	15	40161221	40161222	Human	1	trait
126731773	CV1031978	single nucleotide variant	NM_001211.6(BUB1B):c.125A>G (p.Gln42Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002242403]	uncertain significance	15	40165142	40165142	Human	1	trait
126745466	CV1031981	single nucleotide variant	NM_001211.6(BUB1B):c.966G>A (p.Arg322=)	Mosaic variegated aneuploidy syndrome 1 [RCV002242427]	uncertain significance	15	40185379	40185379	Human	1	trait
126732414	CV1031982	single nucleotide variant	NM_001211.6(BUB1B):c.1123G>A (p.Glu375Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV002242405]	uncertain significance	15	40196609	40196609	Human	1	trait
126771344	CV1031985	single nucleotide variant	NM_001211.6(BUB1B):c.1734T>G (p.Cys578Trp)	Mosaic variegated aneuploidy syndrome 1 [RCV002242496]	uncertain significance	15	40202694	40202694	Human	1	trait
126737935	CV1031986	insertion	NM_001211.6(BUB1B):c.2143+5_2143+6insT	Mosaic variegated aneuploidy syndrome 1 [RCV002242414]	uncertain significance	15	40208775	40208776	Human		trait
126747521	CV1031987	single nucleotide variant	NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV002242185]	uncertain significance	15	40220626	40220626	Human	1	trait
126914865	CV1047609	single nucleotide variant	NM_014679.5(CEP57):c.202+6C>T	Mosaic variegated aneuploidy syndrome 2 [RCV001370620]	uncertain significance	11	95799394	95799394	Human	1	trait
126909312	CV1047612	single nucleotide variant	NM_014679.5(CEP57):c.601A>G (p.Thr201Ala)	Mosaic variegated aneuploidy syndrome 2 [RCV001368376]	uncertain significance	11	95817883	95817883	Human	1	trait
126917890	CV1047614	single nucleotide variant	NM_014679.5(CEP57):c.704A>G (p.Gln235Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001361421]	uncertain significance	11	95821875	95821875	Human	1	trait
126911121	CV1048908	single nucleotide variant	NM_001211.6(BUB1B):c.650T>A (p.Phe217Tyr)	Mosaic variegated aneuploidy syndrome 1 [RCV001365287]	uncertain significance	15	40183782	40183782	Human	1	trait
126911128	CV1048910	single nucleotide variant	NM_001211.6(BUB1B):c.1228T>C (p.Phe410Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV001366525]	uncertain significance	15	40196714	40196714	Human	1	trait
126911146	CV1048911	single nucleotide variant	NM_001211.6(BUB1B):c.1535A>G (p.Glu512Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV001371357]	uncertain significance	15	40200948	40200948	Human	1	trait
126911118	CV1048914	single nucleotide variant	NM_001211.6(BUB1B):c.1897T>A (p.Ser633Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV001364531]	uncertain significance	15	40206346	40206346	Human	1	trait
126911131	CV1048916	single nucleotide variant	NM_001211.6(BUB1B):c.2042A>C (p.His681Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV001367994]	uncertain significance	15	40208669	40208669	Human	1	trait
126911104	CV1048918	single nucleotide variant	NM_001211.6(BUB1B):c.2506C>T (p.His836Tyr)	Mosaic variegated aneuploidy syndrome 1 [RCV001359099]	uncertain significance	15	40212619	40212619	Human	1	trait
126911133	CV1048920	single nucleotide variant	NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu)	Mosaic variegated aneuploidy syndrome 1 [RCV001368899]	uncertain significance	15	40220568	40220568	Human	1	trait
126911141	CV1048923	single nucleotide variant	NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV001369931]	uncertain significance	15	40220739	40220739	Human	1	trait
127243698	CV1056216	single nucleotide variant	NM_001211.6(BUB1B):c.2386-2A>G	Mosaic variegated aneuploidy syndrome 1 [RCV001377149]	likely pathogenic	15	40212497	40212497	Human	1	trait
127259416	CV1063239	duplication	NM_001211.6(BUB1B):c.422dup (p.Tyr141Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001387142]	pathogenic	15	40176513	40176514	Human	1	trait
127265493	CV1063240	insertion	NM_001211.6(BUB1B):c.693_694insTT (p.Ser232fs)	Mosaic variegated aneuploidy syndrome 1 [RCV001388465]	pathogenic	15	40183825	40183826	Human	1	trait
127239637	CV1063241	single nucleotide variant	NM_001211.6(BUB1B):c.799C>T (p.Gln267Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001383289]	pathogenic	15	40185212	40185212	Human	1	trait
127253580	CV1079000	single nucleotide variant	NM_014679.5(CEP57):c.303A>G (p.Thr101=)	Mosaic variegated aneuploidy syndrome 2 [RCV001418337]	likely benign	11	95813032	95813032	Human	1	trait
127281334	CV1079001	single nucleotide variant	NM_014679.5(CEP57):c.645A>G (p.Ala215=)	Mosaic variegated aneuploidy syndrome 2 [RCV001410390]	likely benign	11	95818850	95818850	Human	1	trait
127250250	CV1079004	single nucleotide variant	NM_014679.5(CEP57):c.1329T>G (p.Thr443=)	Mosaic variegated aneuploidy syndrome 2 [RCV001399839]	likely benign	11	95831082	95831082	Human	1	trait
127258774	CV1081045	single nucleotide variant	NM_001211.6(BUB1B):c.967-8A>C	Mosaic variegated aneuploidy syndrome 1 [RCV001401753]	likely benign	15	40185543	40185543	Human	1	trait
127272124	CV1100721	single nucleotide variant	NM_014679.5(CEP57):c.46-10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001442052]	likely benign	11	95799222	95799222	Human	1	trait
127232949	CV1100723	single nucleotide variant	NM_014679.5(CEP57):c.111A>G (p.Val37=)	Mosaic variegated aneuploidy syndrome 2 [RCV001421519]	likely benign	11	95799297	95799297	Human	1	trait
127270053	CV1100724	single nucleotide variant	NM_014679.5(CEP57):c.138T>G (p.Leu46=)	Mosaic variegated aneuploidy syndrome 2 [RCV001441301]	likely benign	11	95799324	95799324	Human	1	trait
127280333	CV1100728	single nucleotide variant	NM_014679.5(CEP57):c.1404G>C (p.Leu468=)	Mosaic variegated aneuploidy syndrome 2 [RCV001446384]	likely benign	11	95831157	95831157	Human	1	trait
127263746	CV1102873	single nucleotide variant	NM_001211.6(BUB1B):c.1517+7C>G	Mosaic variegated aneuploidy syndrome 1 [RCV001439384]	likely benign	15	40200366	40200366	Human	1	trait
127232792	CV1102874	single nucleotide variant	NM_001211.6(BUB1B):c.1568-5T>A	Mosaic variegated aneuploidy syndrome 1 [RCV001421447]	likely benign	15	40202400	40202400	Human	1	trait
127271416	CV1102876	single nucleotide variant	NM_001211.6(BUB1B):c.2160A>T (p.Ser720=)	Mosaic variegated aneuploidy syndrome 1 [RCV001430953]	likely benign	15	40209651	40209651	Human	1	trait
127246071	CV1102877	single nucleotide variant	NM_001211.6(BUB1B):c.2386-6T>C	Mosaic variegated aneuploidy syndrome 1 [RCV001435329]	likely benign	15	40212493	40212493	Human	1	trait
127297700	CV1122172	single nucleotide variant	NM_014679.5(CEP57):c.75T>C (p.Asn25=)	Mosaic variegated aneuploidy syndrome 2 [RCV001460309]	likely benign	11	95799261	95799261	Human	1	trait
127314648	CV1122173	single nucleotide variant	NM_014679.5(CEP57):c.516A>G (p.Glu172=)	Mosaic variegated aneuploidy syndrome 2 [RCV001457765]	likely benign	11	95817798	95817798	Human	1	trait
127304374	CV1122175	single nucleotide variant	NM_014679.5(CEP57):c.700-4C>T	Mosaic variegated aneuploidy syndrome 2 [RCV001462208]	likely benign	11	95821867	95821867	Human	1	trait
127311790	CV1122176	single nucleotide variant	NM_014679.5(CEP57):c.711T>A (p.Gly237=)	Mosaic variegated aneuploidy syndrome 2 [RCV001457001]	likely benign	11	95821882	95821882	Human	1	trait
127330242	CV1122178	single nucleotide variant	NM_014679.5(CEP57):c.1137G>A (p.Gln379=)	Mosaic variegated aneuploidy syndrome 2 [RCV001470761]	likely benign	11	95829196	95829196	Human	1	trait
127333444	CV1122180	single nucleotide variant	NM_014679.5(CEP57):c.1272+10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001472947]	likely benign	11	95829341	95829341	Human	1	trait
127296068	CV1124300	single nucleotide variant	NM_001211.6(BUB1B):c.1058+9G>A	Mosaic variegated aneuploidy syndrome 1 [RCV001477243]	likely benign	15	40185651	40185651	Human	1	trait
127312503	CV1124302	single nucleotide variant	NM_001211.6(BUB1B):c.1517+10C>T	Mosaic variegated aneuploidy syndrome 1 [RCV001464421]	likely benign	15	40200369	40200369	Human	1	trait
127334372	CV1124303	single nucleotide variant	NM_001211.6(BUB1B):c.1815A>T (p.Pro605=)	Mosaic variegated aneuploidy syndrome 1 [RCV001473532]	likely benign	15	40206264	40206264	Human	1	trait
127326586	CV1124306	single nucleotide variant	NM_001211.6(BUB1B):c.2850+9A>G	Mosaic variegated aneuploidy syndrome 1 [RCV001468796]	likely benign	15	40217676	40217676	Human	1	trait
127314041	CV1124307	single nucleotide variant	NM_001211.6(BUB1B):c.2857C>T (p.Leu953=)	Mosaic variegated aneuploidy syndrome 1 [RCV001464833]	likely benign	15	40218462	40218462	Human	1	trait
127298393	CV1124308	single nucleotide variant	NM_001211.6(BUB1B):c.2997G>A (p.Arg999=)	Mosaic variegated aneuploidy syndrome 1 [RCV001453298]	likely benign	15	40220603	40220603	Human	1	trait
127313237	CV1143055	single nucleotide variant	NM_014679.5(CEP57):c.909G>A (p.Val303=)	Mosaic variegated aneuploidy syndrome 2 [RCV001481921]	likely benign	11	95827809	95827809	Human	1	trait
127330946	CV1143056	single nucleotide variant	NM_014679.5(CEP57):c.1134C>T (p.His378=)	Mosaic variegated aneuploidy syndrome 2 [RCV001488504]	likely benign	11	95829193	95829193	Human	1	trait
127334034	CV1143057	single nucleotide variant	NM_014679.5(CEP57):c.1170C>T (p.Thr390=)	Mosaic variegated aneuploidy syndrome 2 [RCV001490564]	likely benign	11	95829229	95829229	Human	1	trait
127334511	CV1145156	single nucleotide variant	NM_001211.6(BUB1B):c.180-7A>G	Mosaic variegated aneuploidy syndrome 1 [RCV001490861]	likely benign	15	40170055	40170055	Human	1	trait
127297032	CV1145157	single nucleotide variant	NM_001211.6(BUB1B):c.385-7G>C	Mosaic variegated aneuploidy syndrome 1 [RCV001497679]	likely benign	15	40176470	40176470	Human	1	trait
127296629	CV1145159	single nucleotide variant	NM_001211.6(BUB1B):c.752-6T>C	Mosaic variegated aneuploidy syndrome 1 [RCV001497543]	likely benign	15	40185159	40185159	Human	1	trait
127286486	CV1145161	microsatellite	NM_001211.6(BUB1B):c.1058+8_1058+9del	Mosaic variegated aneuploidy syndrome 1 [RCV001494278]	likely benign	15	40185647	40185648	Human		trait
127330774	CV1145162	single nucleotide variant	NM_001211.6(BUB1B):c.1289-9T>C	Mosaic variegated aneuploidy syndrome 1 [RCV001488343]	likely benign	15	40199606	40199606	Human	1	trait
127330210	CV1145164	single nucleotide variant	NM_001211.6(BUB1B):c.1620G>A (p.Lys540=)	Mosaic variegated aneuploidy syndrome 1 [RCV001487946]	likely benign	15	40202457	40202457	Human	1	trait
127302966	CV1145165	deletion	NM_001211.6(BUB1B):c.1628+8del	Mosaic variegated aneuploidy syndrome 1 [RCV001499234]	likely benign	15	40202473	40202473	Human	1	trait
127309151	CV1145166	single nucleotide variant	NM_001211.6(BUB1B):c.1842A>G (p.Ala614=)	Mosaic variegated aneuploidy syndrome 1 [RCV001500968]	likely benign	15	40206291	40206291	Human	1	trait
127304781	CV1145167	single nucleotide variant	NM_001211.6(BUB1B):c.1980C>T (p.Tyr660=)	Mosaic variegated aneuploidy syndrome 1 [RCV001499737]	likely benign	15	40206429	40206429	Human	1	trait
150557170	CV1310517	deletion	NM_001211.6(BUB1B):c.1045del (p.Arg349fs)	Mosaic variegated aneuploidy syndrome 1 [RCV001775445]	pathogenic	15	40185629	40185629	Human	1	trait
151664385	CV1332538	single nucleotide variant	NM_014679.5(CEP57):c.154C>T (p.Arg52Cys)	Mosaic variegated aneuploidy syndrome 2 [RCV001829265]	uncertain significance	11	95799340	95799340	Human	1	trait
151817822	CV1337497	single nucleotide variant	NM_001211.6(BUB1B):c.1517G>A (p.Arg506Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV001919263]	uncertain significance	15	40200359	40200359	Human	1	trait
151859648	CV1344021	single nucleotide variant	NM_014679.5(CEP57):c.515A>G (p.Glu172Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV002034207]	uncertain significance	11	95817797	95817797	Human	1	trait
151891036	CV1344536	single nucleotide variant	NM_014679.5(CEP57):c.1231A>G (p.Lys411Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV001943219]	uncertain significance	11	95829290	95829290	Human	1	trait
151784018	CV1344652	single nucleotide variant	NM_001211.6(BUB1B):c.950G>A (p.Arg317Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV001989393]	uncertain significance	15	40185363	40185363	Human	1	trait
151835352	CV1347236	single nucleotide variant	NM_001211.6(BUB1B):c.1243A>G (p.Ile415Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002031228]	uncertain significance	15	40196729	40196729	Human	1	trait
151833178	CV1348183	single nucleotide variant	NM_001211.6(BUB1B):c.2678+15T>G	Mosaic variegated aneuploidy syndrome 1 [RCV001880504]	likely benign\|uncertain significance	15	40213489	40213489	Human	1	trait
151890518	CV1348987	deletion	NC_000011.9:g.(?_95550941)_(95551077_?)del	Mosaic variegated aneuploidy syndrome 2 [RCV001943063]	uncertain significance				Human	1	trait
151852296	CV1348988	duplication	NC_000011.9:g.(?_95523863)_(95569448_?)dup	Mosaic variegated aneuploidy syndrome 2 [RCV001922959]	uncertain significance				Human	1	trait
151758622	CV1349865	single nucleotide variant	NM_014679.5(CEP57):c.486A>G (p.Thr162=)	Mosaic variegated aneuploidy syndrome 2 [RCV001987004]	likely benign\|uncertain significance	11	95813571	95813571	Human	1	trait
151759440	CV1349974	single nucleotide variant	NM_001211.6(BUB1B):c.114G>C (p.Met38Ile)	Mosaic variegated aneuploidy syndrome 1 [RCV001987091]	uncertain significance	15	40165131	40165131	Human	1	trait
151740146	CV1352503	single nucleotide variant	NM_001211.6(BUB1B):c.164T>C (p.Leu55Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV001870938]	uncertain significance	15	40165181	40165181	Human	1	trait
151861909	CV1353383	single nucleotide variant	NM_014679.5(CEP57):c.242G>A (p.Arg81Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV001924103]	uncertain significance	11	95812971	95812971	Human	1	trait
151723198	CV1356700	single nucleotide variant	NM_001211.6(BUB1B):c.2440C>G (p.Arg814Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV001966261]	uncertain significance	15	40212553	40212553	Human	1	trait
151841273	CV1361261	single nucleotide variant	NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001881383]	pathogenic	15	40165186	40165186	Human	1	trait
151743929	CV1367967	single nucleotide variant	NM_001211.6(BUB1B):c.2385+6A>C	Mosaic variegated aneuploidy syndrome 1 [RCV001871302]	uncertain significance	15	40210216	40210216	Human	1	trait
151846408	CV1368441	single nucleotide variant	NM_001211.6(BUB1B):c.889G>A (p.Ala297Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV001936767]	uncertain significance	15	40185302	40185302	Human	1	trait
151746278	CV1374791	single nucleotide variant	NM_014679.5(CEP57):c.621+9A>G	Mosaic variegated aneuploidy syndrome 2 [RCV001947627]	uncertain significance	11	95817912	95817912	Human	1	trait
151798987	CV1376745	single nucleotide variant	NM_001211.6(BUB1B):c.2144-7C>G	Mosaic variegated aneuploidy syndrome 1 [RCV001932129]	uncertain significance	15	40209628	40209628	Human	1	trait
151857746	CV1377465	single nucleotide variant	NM_014679.5(CEP57):c.472G>A (p.Glu158Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001938158]	uncertain significance	11	95813557	95813557	Human	1	trait
151737989	CV1379096	single nucleotide variant	NM_001211.6(BUB1B):c.26G>T (p.Gly9Val)	Mosaic variegated aneuploidy syndrome 1 [RCV001911639]	uncertain significance	15	40161246	40161246	Human	1	trait
151842603	CV1379714	single nucleotide variant	NM_014679.5(CEP57):c.11C>G (p.Ala4Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001936299]	uncertain significance	11	95790709	95790709	Human	1	trait
151842758	CV1379738	single nucleotide variant	NM_014679.5(CEP57):c.880G>A (p.Gly294Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001936316]	uncertain significance	11	95822571	95822571	Human	1	trait
151844806	CV1381517	duplication	NC_000015.9:g.(?_40457244)_(40457407_?)dup	Mosaic variegated aneuploidy syndrome 1 [RCV001881801]	uncertain significance				Human	1	trait
151742022	CV1386777	single nucleotide variant	NM_014679.5(CEP57):c.3G>A (p.Met1Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV001893359]	uncertain significance	11	95790701	95790701	Human	1	trait
151820294	CV1387014	single nucleotide variant	NM_014679.5(CEP57):c.566T>C (p.Leu189Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001954689]	uncertain significance	11	95817848	95817848	Human	1	trait
151849050	CV1389463	single nucleotide variant	NM_001211.6(BUB1B):c.485A>G (p.Tyr162Cys)	Mosaic variegated aneuploidy syndrome 1 [RCV001937101]	uncertain significance	15	40176577	40176577	Human	1	trait
151817927	CV1390461	single nucleotide variant	NM_014679.5(CEP57):c.185C>T (p.Pro62Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV001954463]	uncertain significance	11	95799371	95799371	Human	1	trait
151834723	CV1394257	single nucleotide variant	NM_014679.5(CEP57):c.1212A>C (p.Leu404Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV002051082]	uncertain significance	11	95829271	95829271	Human	1	trait
151785001	CV1397054	single nucleotide variant	NM_001211.6(BUB1B):c.1910G>A (p.Arg637Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV001930805]	uncertain significance	15	40206359	40206359	Human	1	trait
151858605	CV1399945	single nucleotide variant	NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV001923710]	pathogenic	11	95817805	95817805	Human	1	trait
151761696	CV1400772	single nucleotide variant	NM_001211.6(BUB1B):c.2072C>T (p.Ser691Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV002007943]	uncertain significance	15	40208699	40208699	Human	1	trait
151774138	CV1402315	single nucleotide variant	NM_001211.6(BUB1B):c.2854G>C (p.Asp952His)	Mosaic variegated aneuploidy syndrome 1 [RCV001929810]	uncertain significance	15	40218459	40218459	Human	1	trait
151805882	CV1403673	single nucleotide variant	NM_001211.6(BUB1B):c.1693G>C (p.Glu565Gln)	Mosaic variegated aneuploidy syndrome 1 [RCV002011983]	uncertain significance	15	40202653	40202653	Human	1	trait
151802377	CV1404936	single nucleotide variant	NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001932431]	pathogenic	15	40218481	40218481	Human	1	trait
151808624	CV1407175	single nucleotide variant	NM_014679.5(CEP57):c.504+5G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002048642]	uncertain significance	11	95813594	95813594	Human	1	trait
151874753	CV1408559	single nucleotide variant	NM_001211.6(BUB1B):c.470C>T (p.Ser157Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV001906928]	uncertain significance	15	40176562	40176562	Human	1	trait
151852501	CV1409312	single nucleotide variant	NM_014679.5(CEP57):c.923A>G (p.Gln308Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001937546]	uncertain significance	11	95827823	95827823	Human	1	trait
151752001	CV1412369	single nucleotide variant	NM_001211.6(BUB1B):c.671G>A (p.Arg224Gln)	Mosaic variegated aneuploidy syndrome 1 [RCV001927611]	uncertain significance	15	40183803	40183803	Human	1	trait
151869530	CV1413676	microsatellite	NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs)	Mosaic variegated aneuploidy syndrome 2 [RCV002018757]	uncertain significance	11	95831164	95831173	Human		trait
151820299	CV1416142	microsatellite	NM_001211.6(BUB1B):c.967-17TTC[2]	Mosaic variegated aneuploidy syndrome 1 [RCV001919502]	likely benign\|uncertain significance	15	40185534	40185536	Human		trait
151835032	CV1420079	single nucleotide variant	NM_014679.5(CEP57):c.1000A>G (p.Lys334Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV001977044]	uncertain significance	11	95827900	95827900	Human	1	trait
151720875	CV1420925	single nucleotide variant	NM_014679.5(CEP57):c.452G>A (p.Arg151Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV002040059]	uncertain significance	11	95813537	95813537	Human	1	trait
151718897	CV1421680	single nucleotide variant	NM_001211.6(BUB1B):c.2328A>C (p.Glu776Asp)	Mosaic variegated aneuploidy syndrome 1 [RCV001909413]	uncertain significance	15	40210153	40210153	Human	1	trait
151867046	CV1422493	single nucleotide variant	NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln)	Mosaic variegated aneuploidy syndrome 1 [RCV001884665]	uncertain significance	15	40165124	40165124	Human	1	trait
151791609	CV1422756	single nucleotide variant	NM_001211.6(BUB1B):c.430A>G (p.Asn144Asp)	Mosaic variegated aneuploidy syndrome 1 [RCV001916872]	uncertain significance	15	40176522	40176522	Human	1	trait
151745236	CV1428128	single nucleotide variant	NM_001211.6(BUB1B):c.582-3T>C	Mosaic variegated aneuploidy syndrome 1 [RCV001926884]	uncertain significance	15	40183711	40183711	Human	1	trait
151745538	CV1428169	single nucleotide variant	NM_014679.5(CEP57):c.684A>C (p.Gln228His)	Mosaic variegated aneuploidy syndrome 2 [RCV001926916]	uncertain significance	11	95818889	95818889	Human	1	trait
151746128	CV1428260	single nucleotide variant	NM_014679.5(CEP57):c.347A>G (p.Glu116Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001926981]	uncertain significance	11	95813076	95813076	Human	1	trait
151746906	CV1428387	single nucleotide variant	NM_014679.5(CEP57):c.378T>A (p.Asn126Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001927075]	uncertain significance	11	95813107	95813107	Human	1	trait
151800472	CV1430837	single nucleotide variant	NM_001211.6(BUB1B):c.451C>G (p.Leu151Val)	Mosaic variegated aneuploidy syndrome 1 [RCV001877328]	uncertain significance	15	40176543	40176543	Human	1	trait
151849180	CV1431234	single nucleotide variant	NM_001211.6(BUB1B):c.1298T>A (p.Leu433Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001922535]	pathogenic	15	40199624	40199624	Human	1	trait
151883296	CV1432040	single nucleotide variant	NM_001211.6(BUB1B):c.877C>T (p.Gln293Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV002000022]	pathogenic	15	40185290	40185290	Human	1	trait
151763411	CV1433968	single nucleotide variant	NM_001211.6(BUB1B):c.2385G>C (p.Lys795Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV002024636]	uncertain significance	15	40210210	40210210	Human	1	trait
151790664	CV1436134	single nucleotide variant	NM_001211.6(BUB1B):c.199C>T (p.Arg67Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001990050]	pathogenic	15	40170081	40170081	Human	1	trait
151729663	CV1440945	single nucleotide variant	NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001945909]	uncertain significance	11	95829246	95829246	Human	1	trait
151800645	CV1442187	single nucleotide variant	NM_014679.5(CEP57):c.29C>T (p.Ser10Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV002011535]	uncertain significance	11	95790727	95790727	Human	1	trait
151882683	CV1443269	single nucleotide variant	NM_001211.6(BUB1B):c.2285-3C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002037188]	uncertain significance	15	40210107	40210107	Human	1	trait
151866674	CV1446465	single nucleotide variant	NM_014679.5(CEP57):c.45+5G>A	Mosaic variegated aneuploidy syndrome 2 [RCV001980799]	uncertain significance	11	95790748	95790748	Human	1	trait
151793289	CV1447129	single nucleotide variant	NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV001876711]	uncertain significance	15	40217624	40217624	Human	1	trait
151827148	CV1447336	single nucleotide variant	NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe)	Mosaic variegated aneuploidy syndrome 1 [RCV001870171]	uncertain significance	15	40220711	40220711	Human	1	trait
151813826	CV1448143	single nucleotide variant	NM_001211.6(BUB1B):c.2477A>G (p.Tyr826Cys)	Mosaic variegated aneuploidy syndrome 1 [RCV001918882]	uncertain significance	15	40212590	40212590	Human	1	trait
151862831	CV1449035	single nucleotide variant	NM_014679.5(CEP57):c.1208C>T (p.Ala403Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001959443]	uncertain significance	11	95829267	95829267	Human	1	trait
151777064	CV1450143	single nucleotide variant	NM_001211.6(BUB1B):c.2398C>T (p.Pro800Ser)	Mosaic variegated aneuploidy syndrome 1 [RCV001864618]	uncertain significance	15	40212511	40212511	Human	1	trait
151777192	CV1450170	single nucleotide variant	NM_014679.5(CEP57):c.1127+3G>A	Mosaic variegated aneuploidy syndrome 2 [RCV001864629]	uncertain significance	11	95828030	95828030	Human	1	trait
151867618	CV1451413	deletion	NM_001211.6(BUB1B):c.2210del (p.Glu736_Leu737insTer)	Mosaic variegated aneuploidy syndrome 1 [RCV001939359]	pathogenic	15	40209700	40209700	Human	1	trait
151849164	CV1453101	single nucleotide variant	NM_001211.6(BUB1B):c.547G>C (p.Ala183Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV002032931]	uncertain significance	15	40176639	40176639	Human	1	trait
151739426	CV1455198	single nucleotide variant	NM_001211.6(BUB1B):c.463T>C (p.Tyr155His)	Mosaic variegated aneuploidy syndrome 1 [RCV002005667]	uncertain significance	15	40176555	40176555	Human	1	trait
151746491	CV1455787	single nucleotide variant	NM_001211.6(BUB1B):c.2341T>C (p.Phe781Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV002022881]	uncertain significance	15	40210166	40210166	Human	1	trait
151723664	CV1459105	single nucleotide variant	NM_001211.6(BUB1B):c.483A>T (p.Glu161Asp)	Mosaic variegated aneuploidy syndrome 1 [RCV002020517]	uncertain significance	15	40176575	40176575	Human	1	trait
151875036	CV1461154	single nucleotide variant	NM_001211.6(BUB1B):c.814A>G (p.Ile272Val)	Mosaic variegated aneuploidy syndrome 1 [RCV001925704]	uncertain significance	15	40185227	40185227	Human	1	trait
151736150	CV1461633	microsatellite	NM_001211.6(BUB1B):c.630AGA[2] (p.Glu215del)	Mosaic variegated aneuploidy syndrome 1 [RCV001967641]	uncertain significance	15	40183761	40183763	Human		trait
151829052	CV1465473	single nucleotide variant	NM_001211.6(BUB1B):c.581+1G>T	Mosaic variegated aneuploidy syndrome 1 [RCV002014132]	likely pathogenic	15	40176674	40176674	Human	1	trait
151784307	CV1474583	single nucleotide variant	NM_014679.5(CEP57):c.767C>T (p.Ala256Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001930740]	uncertain significance	11	95821938	95821938	Human	1	trait
151784517	CV1474626	single nucleotide variant	NM_014679.5(CEP57):c.45+16C>T	Mosaic variegated aneuploidy syndrome 2 [RCV001930760]	likely benign\|uncertain significance	11	95790759	95790759	Human	1	trait
151757593	CV1475136	single nucleotide variant	NM_001211.6(BUB1B):c.827A>G (p.Asp276Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV001969824]	uncertain significance	15	40185240	40185240	Human	1	trait
151865900	CV1477621	single nucleotide variant	NM_001211.6(BUB1B):c.384+6T>A	Mosaic variegated aneuploidy syndrome 1 [RCV001939156]	uncertain significance	15	40170687	40170687	Human	1	trait
151743349	CV1478292	single nucleotide variant	NM_001211.6(BUB1B):c.2509C>A (p.Gln837Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV002006036]	uncertain significance	15	40212622	40212622	Human	1	trait
151729280	CV1483136	single nucleotide variant	NM_001211.6(BUB1B):c.1291G>A (p.Glu431Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV001892074]	uncertain significance	15	40199617	40199617	Human	1	trait
151831512	CV1487724	deletion	NM_001211.6(BUB1B):c.1906del (p.Glu636fs)	Mosaic variegated aneuploidy syndrome 1 [RCV001955723]	pathogenic	15	40206355	40206355	Human	1	trait
151714115	CV1488289	duplication	NC_000015.9:g.(?_40409289)_(40512960_?)dup	Mosaic variegated aneuploidy syndrome 1 [RCV002002590]	uncertain significance				Human		trait
151814205	CV1492197	single nucleotide variant	NM_014679.5(CEP57):c.885+19G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002029268]	likely benign\|uncertain significance	11	95822595	95822595	Human	1	trait
151777987	CV1493242	duplication	NM_001211.6(BUB1B):c.1466_1470dup (p.Gly491fs)	Mosaic variegated aneuploidy syndrome 1 [RCV001915608]	pathogenic	15	40200306	40200307	Human	1	trait
151800407	CV1494171	single nucleotide variant	NM_014679.5(CEP57):c.1171G>A (p.Val391Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV001952870]	uncertain significance	11	95829230	95829230	Human	1	trait
151744425	CV1494889	single nucleotide variant	NM_001211.6(BUB1B):c.341G>A (p.Arg114Gln)	Mosaic variegated aneuploidy syndrome 1 [RCV001985571]	uncertain significance	15	40170638	40170638	Human	1	trait
151779339	CV1496840	single nucleotide variant	NM_014679.5(CEP57):c.8C>T (p.Ala3Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001930283]	uncertain significance	11	95790706	95790706	Human	1	trait
151719559	CV1500102	single nucleotide variant	NM_001211.6(BUB1B):c.1441C>T (p.Gln481Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001909512]	pathogenic	15	40200283	40200283	Human	1	trait
151837329	CV1501145	single nucleotide variant	NM_014679.5(CEP57):c.37C>T (p.His13Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV001977283]	uncertain significance	11	95790735	95790735	Human	1	trait
151847930	CV1502454	single nucleotide variant	NM_001211.6(BUB1B):c.2334C>G (p.Tyr778Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001882210]	pathogenic	15	40210159	40210159	Human	1	trait
151761246	CV1502866	single nucleotide variant	NM_001211.6(BUB1B):c.1765G>A (p.Glu589Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV001914009]	uncertain significance	15	40206214	40206214	Human	1	trait
151750920	CV1508316	single nucleotide variant	NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV001986273]	uncertain significance	15	40165154	40165154	Human	1	trait
151735338	CV1508825	single nucleotide variant	NM_001211.6(BUB1B):c.2534A>G (p.Gln845Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002021741]	uncertain significance	15	40212647	40212647	Human	1	trait
151821115	CV1510706	single nucleotide variant	NM_001211.6(BUB1B):c.244A>G (p.Ile82Val)	Mosaic variegated aneuploidy syndrome 1 [RCV001934153]	uncertain significance	15	40170541	40170541	Human	1	trait
151873023	CV1513649	duplication	NC_000015.9:g.(?_40453422)_(40512960_?)dup	Mosaic variegated aneuploidy syndrome 1 [RCV001940061]	uncertain significance				Human	1	trait
152130492	CV1519750	single nucleotide variant	NM_001211.6(BUB1B):c.582-14T>A	Mosaic variegated aneuploidy syndrome 1 [RCV002155466]	likely benign	15	40183700	40183700	Human	1	trait
152027804	CV1521048	single nucleotide variant	NM_014679.5(CEP57):c.1128-10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV002085251]	likely benign	11	95829177	95829177	Human	1	trait
152159701	CV1522694	single nucleotide variant	NM_014679.5(CEP57):c.504+19A>C	Mosaic variegated aneuploidy syndrome 2 [RCV002140705]	likely benign	11	95813608	95813608	Human	1	trait
152058424	CV1523328	single nucleotide variant	NM_001211.6(BUB1B):c.1568-16G>T	Mosaic variegated aneuploidy syndrome 1 [RCV002167720]	likely benign	15	40202389	40202389	Human	1	trait
152075498	CV1528147	single nucleotide variant	NM_014679.5(CEP57):c.1128-4A>G	Mosaic variegated aneuploidy syndrome 2 [RCV002112044]	likely benign	11	95829183	95829183	Human	1	trait
152060223	CV1536258	single nucleotide variant	NM_001211.6(BUB1B):c.2851-17G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002146684]	benign	15	40218439	40218439	Human	1	trait
152169496	CV1538571	single nucleotide variant	NM_001211.6(BUB1B):c.132A>G (p.Ala44=)	Mosaic variegated aneuploidy syndrome 1 [RCV002182816]	likely benign	15	40165149	40165149	Human	1	trait
152046000	CV1539551	single nucleotide variant	NM_001211.6(BUB1B):c.2143+20A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002145089]	likely benign	15	40208790	40208790	Human	1	trait
152126496	CV1544777	duplication	NM_001211.6(BUB1B):c.1628+15dup	Mosaic variegated aneuploidy syndrome 1 [RCV002154944]	benign	15	40202473	40202474	Human	1	trait
152121721	CV1547623	single nucleotide variant	NM_001211.6(BUB1B):c.752-5C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002081642]	likely benign	15	40185160	40185160	Human	1	trait
152139540	CV1549700	single nucleotide variant	NM_001211.6(BUB1B):c.2385+13C>G	Mosaic variegated aneuploidy syndrome 1 [RCV002156580]	likely benign	15	40210223	40210223	Human	1	trait
152139953	CV1551146	single nucleotide variant	NM_014679.5(CEP57):c.63A>G (p.Pro21=)	Mosaic variegated aneuploidy syndrome 2 [RCV002177924]	likely benign	11	95799249	95799249	Human	1	trait
152044191	CV1552273	single nucleotide variant	NM_001211.6(BUB1B):c.2535+16A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002166076]	likely benign	15	40212664	40212664	Human	1	trait
152072374	CV1552311	single nucleotide variant	NM_014679.5(CEP57):c.1078T>C (p.Leu360=)	Mosaic variegated aneuploidy syndrome 2 [RCV002148257]	likely benign	11	95827978	95827978	Human	1	trait
152124266	CV1553843	single nucleotide variant	NM_001211.6(BUB1B):c.2536-9A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002098589]	likely benign	15	40213323	40213323	Human	1	trait
152124518	CV1553890	single nucleotide variant	NM_001211.6(BUB1B):c.2957+8T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002098623]	likely benign	15	40218570	40218570	Human	1	trait
152077435	CV1560789	deletion	NM_014679.5(CEP57):c.1127+11_1127+14del	Mosaic variegated aneuploidy syndrome 2 [RCV002112296]	likely benign	11	95828035	95828038	Human	1	trait
152054535	CV1564295	single nucleotide variant	NM_001211.6(BUB1B):c.1058+11T>G	Mosaic variegated aneuploidy syndrome 1 [RCV002146072]	likely benign	15	40185653	40185653	Human	1	trait
152134965	CV1564901	single nucleotide variant	NM_001211.6(BUB1B):c.903C>T (p.Pro301=)	Mosaic variegated aneuploidy syndrome 1 [RCV002199824]	likely benign	15	40185316	40185316	Human	1	trait
152138274	CV1564959	single nucleotide variant	NM_001211.6(BUB1B):c.2010-11G>T	Mosaic variegated aneuploidy syndrome 1 [RCV002083811]	likely benign	15	40208626	40208626	Human	1	trait
152093821	CV1565624	single nucleotide variant	NM_001211.6(BUB1B):c.2143+16C>A	Mosaic variegated aneuploidy syndrome 1 [RCV002150933]	likely benign	15	40208786	40208786	Human	1	trait
152068934	CV1566681	single nucleotide variant	NM_001211.6(BUB1B):c.2386-4A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002111183]	likely benign	15	40212495	40212495	Human	1	trait
152116171	CV1566803	single nucleotide variant	NM_001211.6(BUB1B):c.1288+13C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002097518]	likely benign	15	40196787	40196787	Human	1	trait
152092142	CV1567729	single nucleotide variant	NM_001211.6(BUB1B):c.2010-19T>A	Mosaic variegated aneuploidy syndrome 1 [RCV002212873]	likely benign	15	40208618	40208618	Human	1	trait
152148889	CV1569158	microsatellite	NM_001211.6(BUB1B):c.1628+17_1628+24del	Mosaic variegated aneuploidy syndrome 1 [RCV002220482]	likely benign	15	40202471	40202478	Human		trait
152138833	CV1570981	single nucleotide variant	NM_014679.5(CEP57):c.1209A>C (p.Ala403=)	Mosaic variegated aneuploidy syndrome 2 [RCV002120074]	likely benign	11	95829268	95829268	Human	1	trait
152086187	CV1573843	single nucleotide variant	NM_001211.6(BUB1B):c.1401+18A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002149957]	likely benign	15	40199745	40199745	Human	1	trait
152103410	CV1574609	insertion	NM_001211.6(BUB1B):c.2009+17_2009+18insC	Mosaic variegated aneuploidy syndrome 1 [RCV002095825]	likely benign	15	40206475	40206476	Human	1	trait
152054033	CV1575124	single nucleotide variant	NM_001211.6(BUB1B):c.2851-16C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002109322]	likely benign	15	40218440	40218440	Human	1	trait
152040530	CV1577600	single nucleotide variant	NM_001211.6(BUB1B):c.240-11C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002107673]	likely benign	15	40170526	40170526	Human	1	trait
152052378	CV1581057	single nucleotide variant	NM_001211.6(BUB1B):c.2285-12C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002089319]	likely benign	15	40210098	40210098	Human	1	trait
152026399	CV1582830	single nucleotide variant	NM_001211.6(BUB1B):c.2292G>A (p.Glu764=)	Mosaic variegated aneuploidy syndrome 1 [RCV002084785]	likely benign	15	40210117	40210117	Human	1	trait
152044059	CV1584157	single nucleotide variant	NM_014679.5(CEP57):c.885+18C>T	Mosaic variegated aneuploidy syndrome 2 [RCV002071386]	likely benign	11	95822594	95822594	Human	1	trait
152131998	CV1585007	single nucleotide variant	NM_001211.6(BUB1B):c.1734+18T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002082987]	likely benign	15	40202712	40202712	Human	1	trait
152049627	CV1585582	single nucleotide variant	NM_001211.6(BUB1B):c.2957+17G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002145519]	likely benign	15	40218579	40218579	Human	1	trait
152156018	CV1589284	single nucleotide variant	NM_001211.6(BUB1B):c.2957+16T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002122435]	likely benign	15	40218578	40218578	Human	1	trait
152086501	CV1589789	single nucleotide variant	NM_014679.5(CEP57):c.1273-14G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002193703]	likely benign	11	95831012	95831012	Human	1	trait
152035790	CV1590483	single nucleotide variant	NM_014679.5(CEP57):c.1374G>A (p.Gly458=)	Mosaic variegated aneuploidy syndrome 2 [RCV002205552]	likely benign	11	95831127	95831127	Human	1	trait
152102598	CV1590849	deletion	NM_001211.6(BUB1B):c.1628+24_1628+32del	Mosaic variegated aneuploidy syndrome 1 [RCV002115539]	likely benign	15	40202481	40202489	Human	1	trait
152176416	CV1594168	single nucleotide variant	NM_001211.6(BUB1B):c.179+15T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002164561]	likely benign	15	40165211	40165211	Human	1	trait
152136055	CV1595075	single nucleotide variant	NM_001211.6(BUB1B):c.2144-14C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002199955]	likely benign	15	40209621	40209621	Human	1	trait
152094758	CV1599362	single nucleotide variant	NM_014679.5(CEP57):c.383-11A>T	Mosaic variegated aneuploidy syndrome 2 [RCV002094686]	likely benign	11	95813457	95813457	Human	1	trait
152075140	CV1599429	single nucleotide variant	NM_001211.6(BUB1B):c.1587C>T (p.Ser529=)	Mosaic variegated aneuploidy syndrome 1 [RCV002075628]	likely benign	15	40202424	40202424	Human	1	trait
152149924	CV1601570	single nucleotide variant	NM_001211.6(BUB1B):c.2535+8A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002158021]	likely benign	15	40212656	40212656	Human	1	trait
152078569	CV1602144	single nucleotide variant	NM_014679.5(CEP57):c.886-7C>A	Mosaic variegated aneuploidy syndrome 2 [RCV002149008]	likely benign	11	95827779	95827779	Human	1	trait
152049624	CV1602490	single nucleotide variant	NM_001211.6(BUB1B):c.2535+15A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002127078]	likely benign	15	40212663	40212663	Human	1	trait
152033319	CV1603167	single nucleotide variant	NM_001211.6(BUB1B):c.966+7A>C	Mosaic variegated aneuploidy syndrome 1 [RCV002086770]	likely benign	15	40185386	40185386	Human	1	trait
152102443	CV1605928	duplication	NM_001211.6(BUB1B):c.1628+23dup	Mosaic variegated aneuploidy syndrome 1 [RCV002095709]	benign	15	40202481	40202482	Human	1	trait
152161678	CV1606198	single nucleotide variant	NM_001211.6(BUB1B):c.303A>G (p.Leu101=)	Mosaic variegated aneuploidy syndrome 1 [RCV002181042]	likely benign	15	40170600	40170600	Human	1	trait
152077025	CV1607168	single nucleotide variant	NM_001211.6(BUB1B):c.1568-16G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002130358]	likely benign	15	40202389	40202389	Human	1	trait
152086344	CV1608347	single nucleotide variant	NM_014679.5(CEP57):c.1392T>C (p.Asp464=)	Mosaic variegated aneuploidy syndrome 2 [RCV002212092]	likely benign	11	95831145	95831145	Human	1	trait
152105930	CV1609565	single nucleotide variant	NM_014679.5(CEP57):c.382+20T>G	Mosaic variegated aneuploidy syndrome 2 [RCV002115933]	benign	11	95813131	95813131	Human	1	trait
152033008	CV1614944	single nucleotide variant	NM_001211.6(BUB1B):c.36-8C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002086693]	likely benign	15	40165045	40165045	Human	1	trait
152157319	CV1615900	duplication	NM_014679.5(CEP57):c.622-9dup	Mosaic variegated aneuploidy syndrome 2 [RCV002159009]	benign	11	95818813	95818814	Human	1	trait
152144530	CV1616281	single nucleotide variant	NM_001211.6(BUB1B):c.2284+18C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002120831]	likely benign	15	40209793	40209793	Human	1	trait
152075966	CV1616838	single nucleotide variant	NM_001211.6(BUB1B):c.1288+12T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002210598]	likely benign	15	40196786	40196786	Human	1	trait
152057202	CV1618854	single nucleotide variant	NM_014679.5(CEP57):c.723T>C (p.Asn241=)	Mosaic variegated aneuploidy syndrome 2 [RCV002127924]	likely benign	11	95821894	95821894	Human	1	trait
152033503	CV1621260	duplication	NM_001211.6(BUB1B):c.2958-13dup	Mosaic variegated aneuploidy syndrome 1 [RCV002205184]	benign	15	40220547	40220548	Human	1	trait
152107580	CV1624068	single nucleotide variant	NM_014679.5(CEP57):c.1344A>G (p.Arg448=)	Mosaic variegated aneuploidy syndrome 2 [RCV002134056]	likely benign	11	95831097	95831097	Human	1	trait
152135977	CV1624698	deletion	NM_001211.6(BUB1B):c.384+9_384+12del	Mosaic variegated aneuploidy syndrome 1 [RCV002177422]	likely benign	15	40170687	40170690	Human	1	trait
152032245	CV1624768	insertion	NM_001211.6(BUB1B):c.36-14_36-13insG	Mosaic variegated aneuploidy syndrome 1 [RCV002186857]	likely benign	15	40165039	40165040	Human	1	trait
152078246	CV1626979	single nucleotide variant	NM_001211.6(BUB1B):c.966+14G>C	Mosaic variegated aneuploidy syndrome 1 [RCV002112403]	likely benign	15	40185393	40185393	Human	1	trait
152142308	CV1636382	single nucleotide variant	NM_014679.5(CEP57):c.46-11T>C	Mosaic variegated aneuploidy syndrome 2 [RCV002120541]	likely benign	11	95799221	95799221	Human	1	trait
152142890	CV1640724	single nucleotide variant	NM_001211.6(BUB1B):c.2046C>T (p.Ser682=)	Mosaic variegated aneuploidy syndrome 1 [RCV002178290]	likely benign	15	40208673	40208673	Human	1	trait
152122247	CV1640903	single nucleotide variant	NM_001211.6(BUB1B):c.1735-19T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002098317]	likely benign	15	40206165	40206165	Human	1	trait
152038556	CV1644246	single nucleotide variant	NM_001211.6(BUB1B):c.2007G>A (p.Leu669=)	Mosaic variegated aneuploidy syndrome 1 [RCV002165341]	likely benign	15	40206456	40206456	Human	1	trait
152138617	CV1645278	single nucleotide variant	NM_014679.5(CEP57):c.1272+12T>G	Mosaic variegated aneuploidy syndrome 2 [RCV002137886]	likely benign	11	95829343	95829343	Human	1	trait
152116338	CV1645658	single nucleotide variant	NM_014679.5(CEP57):c.1128-4A>C	Mosaic variegated aneuploidy syndrome 2 [RCV002174977]	likely benign	11	95829183	95829183	Human	1	trait
152143025	CV1651414	single nucleotide variant	NM_001211.6(BUB1B):c.1628+17T>G	Mosaic variegated aneuploidy syndrome 1 [RCV002138414]	likely benign	15	40202482	40202482	Human	1	trait
152048564	CV1655989	single nucleotide variant	NM_001211.6(BUB1B):c.751+12A>C	Mosaic variegated aneuploidy syndrome 1 [RCV002207222]	likely benign	15	40183895	40183895	Human	1	trait
152048899	CV1656068	single nucleotide variant	NM_001211.6(BUB1B):c.882A>C (p.Pro294=)	Mosaic variegated aneuploidy syndrome 1 [RCV002207264]	likely benign	15	40185295	40185295	Human	1	trait
152030562	CV1660622	single nucleotide variant	NM_014679.5(CEP57):c.46-9A>T	Mosaic variegated aneuploidy syndrome 2 [RCV002105951]	likely benign	11	95799223	95799223	Human	1	trait
152084412	CV1663010	single nucleotide variant	NM_014679.5(CEP57):c.555A>G (p.Gln185=)	Mosaic variegated aneuploidy syndrome 2 [RCV002170973]	likely benign	11	95817837	95817837	Human	1	trait
152175397	CV1663576	single nucleotide variant	NM_001211.6(BUB1B):c.240-8C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002163530]	likely benign	15	40170529	40170529	Human	1	trait
155671465	CV1775931	single nucleotide variant	NM_001211.6(BUB1B):c.2816A>C (p.Gln939Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV002297419]	uncertain significance	15	40217633	40217633	Human	1	trait
155729576	CV1776243	single nucleotide variant	NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV002301647]	uncertain significance	15	40218475	40218475	Human	1	trait
155749489	CV1778220	single nucleotide variant	NM_014679.5(CEP57):c.652C>T (p.His218Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV002304705]	uncertain significance	11	95818857	95818857	Human	1	trait
155798798	CV1862162	single nucleotide variant	NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)	Mosaic variegated aneuploidy syndrome 3 [RCV002471565]	uncertain significance	5	911992	911992	Human	1	trait
155799001	CV1862268	single nucleotide variant	NM_004237.4(TRIP13):c.759+1G>T	Mosaic variegated aneuploidy syndrome 3 [RCV002471672]	uncertain significance	5	908075	908075	Human	1	trait
155796748	CV1862996	single nucleotide variant	NM_001211.6(BUB1B):c.1375A>C (p.Thr459Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV002470270]	uncertain significance	15	40199701	40199701	Human	1	trait
156045892	CV1868707	single nucleotide variant	NM_014679.5(CEP57):c.1128T>C (p.Phe376=)	Mosaic variegated aneuploidy syndrome 2 [RCV003052824]	uncertain significance	11	95829187	95829187	Human	1	trait
156215370	CV1869271	single nucleotide variant	NM_001211.6(BUB1B):c.1663C>T (p.Arg555Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV003058701]	pathogenic	15	40202623	40202623	Human	1	trait
156004763	CV1869748	single nucleotide variant	NM_001211.6(BUB1B):c.1628+18T>G	Mosaic variegated aneuploidy syndrome 1 [RCV003076764]	likely benign	15	40202483	40202483	Human	1	trait
156271247	CV1870749	single nucleotide variant	NM_001211.6(BUB1B):c.1346T>C (p.Met449Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV003060726]	uncertain significance	15	40199672	40199672	Human	1	trait
156323180	CV1870867	single nucleotide variant	NM_001211.6(BUB1B):c.1401+20A>G	Mosaic variegated aneuploidy syndrome 1 [RCV003063214]	likely benign	15	40199747	40199747	Human	1	trait
156323972	CV1870980	single nucleotide variant	NM_001211.6(BUB1B):c.385-19G>A	Mosaic variegated aneuploidy syndrome 1 [RCV003063270]	likely benign	15	40176458	40176458	Human	1	trait
156001978	CV1872958	duplication	NM_001211.6(BUB1B):c.240-13dup	Mosaic variegated aneuploidy syndrome 1 [RCV003076634]	benign	15	40170519	40170520	Human	1	trait
156322242	CV1873269	single nucleotide variant	NM_001211.6(BUB1B):c.1400A>G (p.Gln467Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV003063152]	uncertain significance	15	40199726	40199726	Human	1	trait
156393284	CV1876105	single nucleotide variant	NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV003068272]	uncertain significance	11	95790733	95790733	Human	1	trait
155956322	CV1876789	single nucleotide variant	NM_014679.5(CEP57):c.203-15G>A	Mosaic variegated aneuploidy syndrome 2 [RCV003074433]	likely benign	11	95812917	95812917	Human	1	trait
156379365	CV1876865	single nucleotide variant	NM_001211.6(BUB1B):c.384+13C>T	Mosaic variegated aneuploidy syndrome 1 [RCV003067036]	likely benign	15	40170694	40170694	Human	1	trait
156407019	CV1878567	single nucleotide variant	NM_014679.5(CEP57):c.42G>A (p.Leu14=)	Mosaic variegated aneuploidy syndrome 2 [RCV003070694]	likely benign	11	95790740	95790740	Human	1	trait
156408879	CV1879921	single nucleotide variant	NM_014679.5(CEP57):c.21T>C (p.Ser7=)	Mosaic variegated aneuploidy syndrome 2 [RCV003071443]	likely benign	11	95790719	95790719	Human	1	trait
156328375	CV1881068	single nucleotide variant	NM_014679.5(CEP57):c.621+8C>T	Mosaic variegated aneuploidy syndrome 2 [RCV003063545]	uncertain significance	11	95817911	95817911	Human	1	trait
156172936	CV1881390	single nucleotide variant	NM_014679.5(CEP57):c.33T>G (p.Gly11=)	Mosaic variegated aneuploidy syndrome 2 [RCV003083292]	likely benign	11	95790731	95790731	Human	1	trait
156236559	CV1882143	single nucleotide variant	NM_001211.6(BUB1B):c.581+18C>T	Mosaic variegated aneuploidy syndrome 1 [RCV003085586]	likely benign	15	40176691	40176691	Human	1	trait
156188910	CV1882726	single nucleotide variant	NM_001211.6(BUB1B):c.2284+13G>A	Mosaic variegated aneuploidy syndrome 1 [RCV003083808]	likely benign	15	40209788	40209788	Human	1	trait
156410795	CV1882763	single nucleotide variant	NM_014679.5(CEP57):c.274G>A (p.Glu92Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV003072212]	uncertain significance	11	95813003	95813003	Human	1	trait
156294348	CV1884084	single nucleotide variant	NM_014679.5(CEP57):c.622-12T>C	Mosaic variegated aneuploidy syndrome 2 [RCV003087625]	likely benign	11	95818815	95818815	Human	1	trait
155970997	CV1885073	deletion	NM_001211.6(BUB1B):c.871del (p.Thr291fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003075178]	pathogenic	15	40185284	40185284	Human	1	trait
156185919	CV1885759	single nucleotide variant	NM_014679.5(CEP57):c.698A>T (p.Glu233Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003083712]	uncertain significance	11	95818903	95818903	Human	1	trait
156076266	CV1886341	single nucleotide variant	NM_014679.5(CEP57):c.382+6T>C	Mosaic variegated aneuploidy syndrome 2 [RCV003079715]	uncertain significance	11	95813117	95813117	Human	1	trait
156404329	CV1886652	single nucleotide variant	NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV003069683]	uncertain significance	11	95821934	95821934	Human	1	trait
156043107	CV1887269	single nucleotide variant	NM_014679.5(CEP57):c.46-2A>T	Mosaic variegated aneuploidy syndrome 2 [RCV003078596]	likely pathogenic	11	95799230	95799230	Human	1	trait
156388891	CV1888407	single nucleotide variant	NM_001211.6(BUB1B):c.2430G>C (p.Lys810Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV003067806]	uncertain significance	15	40212543	40212543	Human	1	trait
156355156	CV1894757	single nucleotide variant	NM_014679.5(CEP57):c.1272+13T>G	Mosaic variegated aneuploidy syndrome 2 [RCV003091289]	likely benign	11	95829344	95829344	Human	1	trait
156308261	CV1895077	single nucleotide variant	NM_014679.5(CEP57):c.341A>T (p.Glu114Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003088291]	uncertain significance	11	95813070	95813070	Human	1	trait
156288926	CV1897220	single nucleotide variant	NM_001211.6(BUB1B):c.1059-3T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002598670]	uncertain significance	15	40196542	40196542	Human	1	trait
156319629	CV1897730	single nucleotide variant	NM_001211.6(BUB1B):c.2386-10T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002579159]	likely benign	15	40212489	40212489	Human	1	trait
156223794	CV1899993	microsatellite	NM_014679.5(CEP57):c.20_21del (p.Ser7fs)	Mosaic variegated aneuploidy syndrome 2 [RCV003085098]	pathogenic	11	95790715	95790716	Human		trait
156297780	CV1901053	single nucleotide variant	NM_001211.6(BUB1B):c.2415T>G (p.Phe805Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV002599024]	uncertain significance	15	40212528	40212528	Human	1	trait
156413653	CV1905334	single nucleotide variant	NM_001211.6(BUB1B):c.2144-14C>G	Mosaic variegated aneuploidy syndrome 1 [RCV003073383]	likely benign	15	40209621	40209621	Human	1	trait
156366702	CV1906522	single nucleotide variant	NM_014679.5(CEP57):c.1128-19A>G	Mosaic variegated aneuploidy syndrome 2 [RCV003092111]	likely benign	11	95829168	95829168	Human	1	trait
155956579	CV1907375	single nucleotide variant	NM_001211.6(BUB1B):c.2285-2A>G	Mosaic variegated aneuploidy syndrome 1 [RCV003095619]	likely pathogenic	15	40210108	40210108	Human	1	trait
156216462	CV1910642	single nucleotide variant	NM_014679.5(CEP57):c.202+16G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002596283]	likely benign	11	95799404	95799404	Human	1	trait
156418319	CV1910946	single nucleotide variant	NM_001211.6(BUB1B):c.1288+18T>G	Mosaic variegated aneuploidy syndrome 1 [RCV002611501]	likely benign	15	40196792	40196792	Human	1	trait
155946337	CV1911330	single nucleotide variant	NM_001211.6(BUB1B):c.1378C>T (p.Gln460Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV002615957]	pathogenic	15	40199704	40199704	Human	1	trait
156279000	CV1912053	single nucleotide variant	NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala)	Mosaic variegated aneuploidy syndrome 2 [RCV002628362]	uncertain significance	11	95829224	95829224	Human	1	trait
155935996	CV1916971	single nucleotide variant	NM_014679.5(CEP57):c.621+13G>A	Mosaic variegated aneuploidy syndrome 2 [RCV002615310]	uncertain significance	11	95817916	95817916	Human	1	trait
156418483	CV1922219	duplication	NM_014679.5(CEP57):c.46-10dup	Mosaic variegated aneuploidy syndrome 2 [RCV002611679]	likely benign	11	95799219	95799220	Human	1	trait
156293639	CV1926221	single nucleotide variant	NM_001211.6(BUB1B):c.2284+8C>A	Mosaic variegated aneuploidy syndrome 1 [RCV002647305]	likely benign	15	40209783	40209783	Human	1	trait
156378874	CV1927345	deletion	NM_014679.5(CEP57):c.1325del (p.Lys442fs)	Mosaic variegated aneuploidy syndrome 2 [RCV002634100]	uncertain significance	11	95831074	95831074	Human	1	trait
156379999	CV1927462	single nucleotide variant	NM_001211.6(BUB1B):c.1628+8G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002634193]	likely benign	15	40202473	40202473	Human	1	trait
156176012	CV1927670	single nucleotide variant	NM_001211.6(BUB1B):c.1058+17G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002624876]	likely benign	15	40185659	40185659	Human	1	trait
156058045	CV1928885	single nucleotide variant	NM_014679.5(CEP57):c.755G>T (p.Cys252Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV002620847]	uncertain significance	11	95821926	95821926	Human	1	trait
156307838	CV1931546	deletion	NM_001211.6(BUB1B):c.2153del (p.Thr718fs)	Mosaic variegated aneuploidy syndrome 1 [RCV002647985]	pathogenic	15	40209644	40209644	Human	1	trait
156362684	CV1931831	single nucleotide variant	NM_001211.6(BUB1B):c.2678+13C>G	Mosaic variegated aneuploidy syndrome 1 [RCV002632786]	likely benign	15	40213487	40213487	Human	1	trait
156160457	CV1933181	deletion	NM_001211.6(BUB1B):c.1743del (p.Phe581fs)	Mosaic variegated aneuploidy syndrome 1 [RCV002624350]	pathogenic	15	40206190	40206190	Human	1	trait
156161398	CV1933226	single nucleotide variant	NM_014679.5(CEP57):c.526C>G (p.Gln176Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV002624383]	uncertain significance	11	95817808	95817808	Human	1	trait
156302662	CV1933583	single nucleotide variant	NM_001211.6(BUB1B):c.180-15C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002629326]	likely benign	15	40170047	40170047	Human	1	trait
156445800	CV1939971	deletion	NC_000011.9:g.(?_95549619)_(95562458_?)del	Mosaic variegated aneuploidy syndrome 2 [RCV003116759]	likely pathogenic				Human	1	trait
156445801	CV1939972	deletion	NC_000011.9:g.(?_95523863)_(95564420_?)del	Mosaic variegated aneuploidy syndrome 2 [RCV003116760]	pathogenic				Human	1	trait
156434867	CV1940233	single nucleotide variant	NM_014679.5(CEP57):c.56C>G (p.Ala19Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV003104648]	uncertain significance	11	95799242	95799242	Human	1	trait
156435007	CV1940289	single nucleotide variant	NM_001211.6(BUB1B):c.967-3C>T	Mosaic variegated aneuploidy syndrome 1 [RCV003104704]	uncertain significance	15	40185548	40185548	Human	1	trait
156436629	CV1942854	deletion	NC_000015.9:g.(?_40453422)_(40457417_?)del	Mosaic variegated aneuploidy syndrome 1 [RCV003105671]	pathogenic				Human	1	trait
156440687	CV1943747	single nucleotide variant	NM_001211.6(BUB1B):c.2511A>T (p.Gln837His)	Mosaic variegated aneuploidy syndrome 1 [RCV003110724]	uncertain significance	15	40212624	40212624	Human	1	trait
156444559	CV1948284	single nucleotide variant	NM_001211.6(BUB1B):c.2143+4G>C	Mosaic variegated aneuploidy syndrome 1 [RCV003115483]	uncertain significance	15	40208774	40208774	Human	1	trait
156180113	CV1953413	single nucleotide variant	NM_001211.6(BUB1B):c.32T>G (p.Leu11Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002574087]	uncertain significance	15	40161252	40161252	Human	1	trait
156301816	CV1955612	single nucleotide variant	NM_014679.5(CEP57):c.1347C>T (p.Asn449=)	Mosaic variegated aneuploidy syndrome 2 [RCV002578259]	likely benign	11	95831100	95831100	Human	1	trait
156234161	CV1965860	single nucleotide variant	NM_001211.6(BUB1B):c.2010-16T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002596914]	likely benign	15	40208621	40208621	Human	1	trait
156128445	CV1966098	single nucleotide variant	NM_001211.6(BUB1B):c.1568-12C>G	Mosaic variegated aneuploidy syndrome 1 [RCV002593402]	likely benign	15	40202393	40202393	Human	1	trait
155902685	CV1975759	single nucleotide variant	NM_014679.5(CEP57):c.247T>C (p.Leu83=)	Mosaic variegated aneuploidy syndrome 2 [RCV002613484]	likely benign	11	95812976	95812976	Human	1	trait
156007076	CV1981202	single nucleotide variant	NM_001211.6(BUB1B):c.967-8A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002618719]	likely benign	15	40185543	40185543	Human	1	trait
156101165	CV1981987	single nucleotide variant	NM_001211.6(BUB1B):c.1518-5T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002622220]	likely benign	15	40200926	40200926	Human	1	trait
156086684	CV1989443	single nucleotide variant	NM_001211.6(BUB1B):c.1058+16G>C	Mosaic variegated aneuploidy syndrome 1 [RCV002639078]	likely benign	15	40185658	40185658	Human	1	trait
156193279	CV1994764	single nucleotide variant	NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002643379]	uncertain significance	15	40220755	40220755	Human	1	trait
156037705	CV1998856	deletion	NM_001211.6(BUB1B):c.310del (p.Arg104fs)	Mosaic variegated aneuploidy syndrome 1 [RCV002658913]	pathogenic	15	40170605	40170605	Human	1	trait
156036753	CV2002680	single nucleotide variant	NM_001211.6(BUB1B):c.299C>T (p.Thr100Met)	Mosaic variegated aneuploidy syndrome 1 [RCV002658879]	uncertain significance	15	40170596	40170596	Human	1	trait
156225579	CV2006000	single nucleotide variant	NM_014679.5(CEP57):c.1396A>G (p.Met466Val)	Mosaic variegated aneuploidy syndrome 2 [RCV002667388]	uncertain significance	11	95831149	95831149	Human	1	trait
156225404	CV2009443	single nucleotide variant	NM_014679.5(CEP57):c.1335T>C (p.Asp445=)	Mosaic variegated aneuploidy syndrome 2 [RCV002701164]	likely benign	11	95831088	95831088	Human	1	trait
156148752	CV2022961	single nucleotide variant	NM_001211.6(BUB1B):c.714A>C (p.Ala238=)	Mosaic variegated aneuploidy syndrome 1 [RCV002741155]	likely benign	15	40183846	40183846	Human	1	trait
155986808	CV2030509	single nucleotide variant	NM_014679.5(CEP57):c.1003C>G (p.Gln335Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV002755574]	uncertain significance	11	95827903	95827903	Human	1	trait
156238572	CV2031840	single nucleotide variant	NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV002745582]	uncertain significance	15	40217637	40217637	Human	1	trait
155962271	CV2036741	single nucleotide variant	NM_001211.6(BUB1B):c.1774A>G (p.Ile592Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002776323]	uncertain significance	15	40206223	40206223	Human	1	trait
156129339	CV2037327	single nucleotide variant	NM_001211.6(BUB1B):c.1058+7G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002800550]	likely benign	15	40185649	40185649	Human	1	trait
156099540	CV2042119	single nucleotide variant	NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV002761264]	pathogenic	15	40217665	40217665	Human	1	trait
156108597	CV2042259	single nucleotide variant	NM_001211.6(BUB1B):c.2958-13T>A	Mosaic variegated aneuploidy syndrome 1 [RCV002785306]	likely benign	15	40220551	40220551	Human	1	trait
156154018	CV2049213	single nucleotide variant	NM_001211.6(BUB1B):c.1310A>G (p.Glu437Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV002801388]	uncertain significance	15	40199636	40199636	Human	1	trait
155993052	CV2049909	single nucleotide variant	NM_001211.6(BUB1B):c.882A>G (p.Pro294=)	Mosaic variegated aneuploidy syndrome 1 [RCV002819294]	likely benign	15	40185295	40185295	Human	1	trait
156344944	CV2051800	single nucleotide variant	NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002811408]	uncertain significance	15	40217645	40217645	Human	1	trait
156120385	CV2052286	single nucleotide variant	NM_014679.5(CEP57):c.772A>C (p.Arg258=)	Mosaic variegated aneuploidy syndrome 2 [RCV002825275]	likely benign	11	95821943	95821943	Human	1	trait
156122681	CV2052396	deletion	NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del)	Mosaic variegated aneuploidy syndrome 2 [RCV002825363]	uncertain significance	11	95831110	95831115	Human	1	trait
156122701	CV2052397	single nucleotide variant	NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV002825364]	uncertain significance	11	95831116	95831116	Human	1	trait
156278128	CV2053698	single nucleotide variant	NM_014679.5(CEP57):c.1323A>G (p.Lys441=)	Mosaic variegated aneuploidy syndrome 2 [RCV002806897]	likely benign	11	95831076	95831076	Human	1	trait
156323600	CV2053919	single nucleotide variant	NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala)	Mosaic variegated aneuploidy syndrome 1 [RCV002810243]	uncertain significance	15	40217554	40217554	Human	1	trait
156088793	CV2056864	single nucleotide variant	NM_001211.6(BUB1B):c.2851-5T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002824107]	uncertain significance	15	40218451	40218451	Human	1	trait
156321001	CV2057068	deletion	NM_001211.6(BUB1B):c.1517+20del	Mosaic variegated aneuploidy syndrome 1 [RCV002810069]	likely benign	15	40200378	40200378	Human	1	trait
156112267	CV2058310	single nucleotide variant	NM_001211.6(BUB1B):c.1628+11T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002824971]	likely benign	15	40202476	40202476	Human	1	trait
155932194	CV2067373	single nucleotide variant	NM_001211.6(BUB1B):c.2447A>T (p.Asn816Ile)	Mosaic variegated aneuploidy syndrome 1 [RCV002838826]	uncertain significance	15	40212560	40212560	Human	1	trait
156088893	CV2080172	single nucleotide variant	NM_001211.6(BUB1B):c.1735-20T>A	Mosaic variegated aneuploidy syndrome 1 [RCV002847641]	likely benign	15	40206164	40206164	Human	1	trait
155968599	CV2082928	single nucleotide variant	NM_001211.6(BUB1B):c.1734+9C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002881376]	likely benign	15	40202703	40202703	Human	1	trait
156219391	CV2084637	single nucleotide variant	NM_014679.5(CEP57):c.504+6T>G	Mosaic variegated aneuploidy syndrome 2 [RCV002853151]	uncertain significance	11	95813595	95813595	Human	1	trait
156185396	CV2086522	single nucleotide variant	NM_014679.5(CEP57):c.886-7C>T	Mosaic variegated aneuploidy syndrome 2 [RCV002851966]	likely benign	11	95827779	95827779	Human	1	trait
156125516	CV2090183	deletion	NM_001211.6(BUB1B):c.1141del (p.Arg381fs)	Mosaic variegated aneuploidy syndrome 1 [RCV002889735]	pathogenic	15	40196625	40196625	Human	1	trait
156143543	CV2090771	single nucleotide variant	NM_001211.6(BUB1B):c.2957+19C>T	Mosaic variegated aneuploidy syndrome 1 [RCV002890395]	likely benign	15	40218581	40218581	Human	1	trait
156146998	CV2090933	duplication	NM_001211.6(BUB1B):c.2144-2dup	Mosaic variegated aneuploidy syndrome 1 [RCV002890521]	uncertain significance	15	40209632	40209633	Human	1	trait
156166451	CV2091866	single nucleotide variant	NM_014679.5(CEP57):c.148C>T (p.Leu50=)	Mosaic variegated aneuploidy syndrome 2 [RCV002891188]	likely benign	11	95799334	95799334	Human	1	trait
156085427	CV2095075	single nucleotide variant	NM_014679.5(CEP57):c.163A>G (p.Ser55Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV002912846]	uncertain significance	11	95799349	95799349	Human	1	trait
156161303	CV2096889	microsatellite	NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG	Mosaic variegated aneuploidy syndrome 2 [RCV002872670]	uncertain significance	11	95790745	95790746	Human		trait
156128687	CV2104346	single nucleotide variant	NM_001211.6(BUB1B):c.966+20G>T	Mosaic variegated aneuploidy syndrome 1 [RCV002914467]	likely benign	15	40185399	40185399	Human	1	trait
156000540	CV2106728	single nucleotide variant	NM_014679.5(CEP57):c.438A>G (p.Gln146=)	Mosaic variegated aneuploidy syndrome 2 [RCV002947764]	likely benign	11	95813523	95813523	Human	1	trait
156099522	CV2107187	single nucleotide variant	NM_001211.6(BUB1B):c.1638A>G (p.Ala546=)	Mosaic variegated aneuploidy syndrome 1 [RCV002926995]	uncertain significance	15	40202598	40202598	Human	1	trait
156132998	CV2109223	microsatellite	NM_001211.6(BUB1B):c.639GGA[1] (p.Glu215del)	Mosaic variegated aneuploidy syndrome 1 [RCV002914624]	uncertain significance	15	40183769	40183771	Human		trait
156229888	CV2111911	single nucleotide variant	NM_014679.5(CEP57):c.1068T>G (p.Ile356Met)	Mosaic variegated aneuploidy syndrome 2 [RCV002918895]	uncertain significance	11	95827968	95827968	Human	1	trait
156124736	CV2112276	single nucleotide variant	NM_014679.5(CEP57):c.832G>A (p.Ala278Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV002927961]	uncertain significance	11	95822523	95822523	Human	1	trait
156105963	CV2120899	single nucleotide variant	NM_014679.5(CEP57):c.915C>T (p.Ala305=)	Mosaic variegated aneuploidy syndrome 2 [RCV002952914]	likely benign	11	95827815	95827815	Human	1	trait
156224837	CV2121753	single nucleotide variant	NM_014679.5(CEP57):c.1128-17T>A	Mosaic variegated aneuploidy syndrome 2 [RCV002958285]	likely benign	11	95829170	95829170	Human	1	trait
155996347	CV2122602	single nucleotide variant	NM_014679.5(CEP57):c.69G>T (p.Arg23Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV002974971]	uncertain significance	11	95799255	95799255	Human	1	trait
155937470	CV2125812	single nucleotide variant	NM_014679.5(CEP57):c.383-15A>G	Mosaic variegated aneuploidy syndrome 2 [RCV002971052]	likely benign	11	95813453	95813453	Human	1	trait
156148693	CV2131097	single nucleotide variant	NM_014679.5(CEP57):c.45+17G>C	Mosaic variegated aneuploidy syndrome 2 [RCV002982573]	likely benign	11	95790760	95790760	Human	1	trait
156101215	CV2132294	single nucleotide variant	NM_014679.5(CEP57):c.862G>A (p.Asp288Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV003002220]	uncertain significance	11	95822553	95822553	Human	1	trait
156163041	CV2135572	single nucleotide variant	NM_014679.5(CEP57):c.249G>A (p.Leu83=)	Mosaic variegated aneuploidy syndrome 2 [RCV002983076]	likely benign	11	95812978	95812978	Human	1	trait
155936013	CV2138867	single nucleotide variant	NM_001211.6(BUB1B):c.2257T>C (p.Leu753=)	Mosaic variegated aneuploidy syndrome 1 [RCV002993727]	likely benign	15	40209748	40209748	Human	1	trait
156267502	CV2140178	single nucleotide variant	NM_001211.6(BUB1B):c.36-1G>A	Mosaic variegated aneuploidy syndrome 1 [RCV003009147]	likely pathogenic	15	40165052	40165052	Human	1	trait
155933318	CV2142360	single nucleotide variant	NM_014679.5(CEP57):c.504+3A>G	Mosaic variegated aneuploidy syndrome 2 [RCV002993540]	uncertain significance	11	95813592	95813592	Human	1	trait
156222600	CV2144264	single nucleotide variant	NM_001211.6(BUB1B):c.289A>G (p.Asn97Asp)	Mosaic variegated aneuploidy syndrome 1 [RCV003007440]	uncertain significance	15	40170586	40170586	Human	1	trait
156118853	CV2150745	deletion	NM_014679.5(CEP57):c.1342_1362del (p.Arg448_Ser454del)	Mosaic variegated aneuploidy syndrome 2 [RCV003021715]	uncertain significance	11	95831095	95831115	Human	1	trait
155911405	CV2153243	single nucleotide variant	NM_014679.5(CEP57):c.132T>C (p.Pro44=)	Mosaic variegated aneuploidy syndrome 2 [RCV003012283]	likely benign	11	95799318	95799318	Human	1	trait
156238767	CV2154624	single nucleotide variant	NM_014679.5(CEP57):c.905C>A (p.Ala302Asp)	Mosaic variegated aneuploidy syndrome 2 [RCV003025926]	uncertain significance	11	95827805	95827805	Human	1	trait
156322308	CV2166687	single nucleotide variant	NM_001211.6(BUB1B):c.22G>T (p.Gly8Trp)	Mosaic variegated aneuploidy syndrome 1 [RCV003029255]	uncertain significance	15	40161242	40161242	Human	1	trait
156084242	CV2170461	single nucleotide variant	NM_014679.5(CEP57):c.57T>A (p.Ala19=)	Mosaic variegated aneuploidy syndrome 2 [RCV003037991]	likely benign	11	95799243	95799243	Human	1	trait
156251700	CV2174653	single nucleotide variant	NM_014679.5(CEP57):c.215C>T (p.Ala72Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003043812]	uncertain significance	11	95812944	95812944	Human	1	trait
156379799	CV2178961	single nucleotide variant	NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV003050399]	uncertain significance	15	40220713	40220713	Human	1	trait
156303987	CV2187843	single nucleotide variant	NM_014679.5(CEP57):c.545T>A (p.Val182Asp)	Mosaic variegated aneuploidy syndrome 2 [RCV003062096]	uncertain significance	11	95817827	95817827	Human	1	trait
156278252	CV2188498	single nucleotide variant	NM_001211.6(BUB1B):c.99G>A (p.Arg33=)	Mosaic variegated aneuploidy syndrome 1 [RCV003044690]	likely benign	15	40165116	40165116	Human	1	trait
156336993	CV2190044	single nucleotide variant	NM_014679.5(CEP57):c.807+16C>A	Mosaic variegated aneuploidy syndrome 2 [RCV003064022]	likely benign	11	95821994	95821994	Human	1	trait
11059926	CV226807	single nucleotide variant	NM_001211.6(BUB1B):c.1046= (p.Arg349=)	Mosaic variegated aneuploidy syndrome 1 [RCV000210495]	benign	15	40185630	40185630	Human	1	trait
243063785	CV2405244	deletion	NM_001211.6(BUB1B):c.1372del (p.Thr458fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003142377]	likely pathogenic	15	40199696	40199696	Human	1	trait
11348014	CV241215	single nucleotide variant	NM_014679.5(CEP57):c.4G>A (p.Ala2Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV000234087]	uncertain significance	11	95790702	95790702	Human	1	trait
11347007	CV242044	single nucleotide variant	NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu)	Mosaic variegated aneuploidy syndrome 1 [RCV000230606]	uncertain significance	15	40217546	40217546	Human	1	trait
329954284	CV2668697	single nucleotide variant	NM_001211.6(BUB1B):c.1401G>T (p.Gln467His)	Mosaic variegated aneuploidy syndrome 1 [RCV003230326]	likely pathogenic	15	40199727	40199727	Human	1	trait
401798459	CV2741467	microsatellite	NM_001013836.2(MAD1L1):c.820_823del (p.Glu274fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003322685]	pathogenic	7	2215986	2215989	Human		trait
401798458	CV2741468	single nucleotide variant	NM_001013836.2(MAD1L1):c.1396C>T (p.Gln466Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV003322686]	pathogenic	7	2002085	2002085	Human	1	trait
401860690	CV2794539	deletion	NM_198489.3(CENATAC):c.805+2_805+19del	Mosaic variegated aneuploidy syndrome 4 [RCV003387706]	pathogenic	11	119015082	119015099	Human	1	trait
401860830	CV2794540	single nucleotide variant	NM_198489.3(CENATAC):c.803A>T (p.Glu268Val)	Mosaic variegated aneuploidy syndrome 4 [RCV003387707]	pathogenic	11	119015081	119015081	Human	1	trait
402491118	CV2854596	insertion	NM_001211.6(BUB1B):c.94_95insGCTCTCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAATGTACAACCTT (p.Leu32fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003507615]	pathogenic	15	40165092	40165093	Human	1	trait
405021734	CV2854811	single nucleotide variant	NM_014679.5(CEP57):c.998C>T (p.Ala333Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003528560]	uncertain significance	11	95827898	95827898	Human	1	trait
402490168	CV2857371	single nucleotide variant	NM_001211.6(BUB1B):c.812G>A (p.Arg271Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV003507546]	uncertain significance	15	40185225	40185225	Human	1	trait
402490865	CV2858705	indel	NM_001211.6(BUB1B):c.545_546delinsCA (p.Lys182Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV003507640]	uncertain significance	15	40176637	40176638	Human		trait
402491866	CV2858897	single nucleotide variant	NM_001211.6(BUB1B):c.1542T>G (p.Ile514Met)	Mosaic variegated aneuploidy syndrome 1 [RCV003507675]	uncertain significance	15	40200955	40200955	Human	1	trait
405025352	CV2867461	single nucleotide variant	NM_014679.5(CEP57):c.568G>A (p.Asp190Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV003528933]	uncertain significance	11	95817850	95817850	Human	1	trait
402498002	CV2872932	single nucleotide variant	NM_001211.6(BUB1B):c.2009+10G>A	Mosaic variegated aneuploidy syndrome 1 [RCV003508357]	likely benign	15	40206468	40206468	Human	1	trait
402496626	CV2875659	single nucleotide variant	NM_001211.6(BUB1B):c.1628+16G>T	Mosaic variegated aneuploidy syndrome 1 [RCV003508255]	likely benign	15	40202481	40202481	Human	1	trait
402496678	CV2875823	microsatellite	NM_001211.6(BUB1B):c.1568-15TC[2]	Mosaic variegated aneuploidy syndrome 1 [RCV003508261]	uncertain significance	15	40202390	40202391	Human		trait
402497159	CV2876020	single nucleotide variant	NM_001211.6(BUB1B):c.1628+15T>G	Mosaic variegated aneuploidy syndrome 1 [RCV003508310]	likely benign	15	40202480	40202480	Human	1	trait
405027654	CV2877103	single nucleotide variant	NM_014679.5(CEP57):c.421A>C (p.Asn141His)	Mosaic variegated aneuploidy syndrome 2 [RCV003529122]	uncertain significance	11	95813506	95813506	Human	1	trait
405028073	CV2880782	deletion	NM_014679.5(CEP57):c.1128-16_1128-14del	Mosaic variegated aneuploidy syndrome 2 [RCV003529154]	likely benign	11	95829169	95829171	Human	1	trait
405028705	CV2881564	single nucleotide variant	NM_014679.5(CEP57):c.148C>A (p.Leu50Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003529209]	uncertain significance	11	95799334	95799334	Human	1	trait
402499163	CV2881854	single nucleotide variant	NM_001211.6(BUB1B):c.179+8G>A	Mosaic variegated aneuploidy syndrome 1 [RCV003508525]	likely benign	15	40165204	40165204	Human	1	trait
405028846	CV2882078	single nucleotide variant	NM_014679.5(CEP57):c.382+14G>T	Mosaic variegated aneuploidy syndrome 2 [RCV003529245]	likely benign	11	95813125	95813125	Human	1	trait
402499670	CV2882097	single nucleotide variant	NM_001211.6(BUB1B):c.1628+20T>C	Mosaic variegated aneuploidy syndrome 1 [RCV003508577]	likely benign	15	40202485	40202485	Human	1	trait
405029542	CV2882335	deletion	NM_014679.5(CEP57):c.1272+12_1272+13del	Mosaic variegated aneuploidy syndrome 2 [RCV003529304]	likely benign	11	95829341	95829342	Human	1	trait
405030549	CV2883297	single nucleotide variant	NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV003529389]	uncertain significance	11	95790718	95790718	Human	1	trait
402498675	CV2884851	single nucleotide variant	NM_001211.6(BUB1B):c.2385G>A (p.Lys795=)	Mosaic variegated aneuploidy syndrome 1 [RCV003508474]	uncertain significance	15	40210210	40210210	Human	1	trait
402498578	CV2887719	single nucleotide variant	NM_001211.6(BUB1B):c.2419A>G (p.Ile807Val)	Mosaic variegated aneuploidy syndrome 1 [RCV003508463]	uncertain significance	15	40212532	40212532	Human	1	trait
405028475	CV2891580	single nucleotide variant	NM_014679.5(CEP57):c.61C>T (p.Pro21Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV003529190]	uncertain significance	11	95799247	95799247	Human	1	trait
402500188	CV2892728	single nucleotide variant	NM_001211.6(BUB1B):c.2850+18C>T	Mosaic variegated aneuploidy syndrome 1 [RCV003508631]	likely benign	15	40217685	40217685	Human	1	trait
402500796	CV2893320	microsatellite	NM_001211.6(BUB1B):c.1313_1317del (p.Lys438fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003508695]	pathogenic	15	40199634	40199638	Human		trait
405034182	CV2897763	single nucleotide variant	NM_014679.5(CEP57):c.812G>C (p.Ser271Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV003529689]	uncertain significance	11	95822503	95822503	Human	1	trait
402503074	CV2899862	single nucleotide variant	NM_001211.6(BUB1B):c.1517+9A>G	Mosaic variegated aneuploidy syndrome 1 [RCV003508951]	likely benign	15	40200368	40200368	Human	1	trait
405035293	CV2903162	duplication	NM_014679.5(CEP57):c.1430dup (p.Asn477fs)	Mosaic variegated aneuploidy syndrome 2 [RCV003529607]	uncertain significance	11	95831177	95831178	Human	1	trait
402484110	CV2903163	single nucleotide variant	NM_001211.6(BUB1B):c.1289-11A>C	Mosaic variegated aneuploidy syndrome 1 [RCV003506803]	likely benign	15	40199604	40199604	Human	1	trait
402502819	CV2905845	single nucleotide variant	NM_001211.6(BUB1B):c.1734+16C>T	Mosaic variegated aneuploidy syndrome 1 [RCV003508924]	likely benign	15	40202710	40202710	Human	1	trait
402487230	CV2910060	duplication	NM_001211.6(BUB1B):c.897dup (p.Met300fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003507124]	pathogenic	15	40185304	40185305	Human	1	trait
402485984	CV2915673	single nucleotide variant	NM_001211.6(BUB1B):c.2298C>G (p.Tyr766Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV003506986]	pathogenic	15	40210123	40210123	Human	1	trait
402486354	CV2916038	single nucleotide variant	NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)	Mosaic variegated aneuploidy syndrome 1 [RCV003507024]	uncertain significance	15	40218490	40218490	Human	1	trait
402487064	CV2917177	single nucleotide variant	NM_001211.6(BUB1B):c.1373C>G (p.Thr458Ser)	Mosaic variegated aneuploidy syndrome 1 [RCV003507105]	uncertain significance	15	40199699	40199699	Human	1	trait
405034953	CV2919172	single nucleotide variant	NM_014679.5(CEP57):c.781A>G (p.Lys261Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV003529755]	uncertain significance	11	95821952	95821952	Human	1	trait
402487310	CV2920680	single nucleotide variant	NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=)	Mosaic variegated aneuploidy syndrome 1 [RCV003507132]	likely benign	15	40220651	40220651	Human	1	trait
402492134	CV2925388	indel	NM_001211.6(BUB1B):c.2143+15_2143+16delinsTT	Mosaic variegated aneuploidy syndrome 1 [RCV003507750]	uncertain significance	15	40208785	40208786	Human		trait
405017121	CV2928508	single nucleotide variant	NM_014679.5(CEP57):c.487T>C (p.Ser163Pro)	Mosaic variegated aneuploidy syndrome 2 [RCV003527849]	uncertain significance	11	95813572	95813572	Human	1	trait
405129444	CV2936746	single nucleotide variant	NM_001211.6(BUB1B):c.1760T>G (p.Leu587Trp)	Mosaic variegated aneuploidy syndrome 1 [RCV003618117]	uncertain significance	15	40206209	40206209	Human	1	trait
405130640	CV2954216	single nucleotide variant	NM_001211.6(BUB1B):c.139C>A (p.Gln47Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV003618242]	uncertain significance	15	40165156	40165156	Human	1	trait
405131117	CV2959121	single nucleotide variant	NM_001211.6(BUB1B):c.128G>A (p.Gly43Glu)	Mosaic variegated aneuploidy syndrome 1 [RCV003618292]	uncertain significance	15	40165145	40165145	Human	1	trait
405131250	CV2963872	single nucleotide variant	NM_001211.6(BUB1B):c.596G>T (p.Arg199Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV003618330]	uncertain significance	15	40183728	40183728	Human	1	trait
405132343	CV2964817	deletion	NM_001211.6(BUB1B):c.1628+24_1628+31del	Mosaic variegated aneuploidy syndrome 1 [RCV003618361]	likely benign	15	40202483	40202490	Human	1	trait
405195722	CV2965350	single nucleotide variant	NM_014679.5(CEP57):c.274G>C (p.Glu92Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV003641442]	uncertain significance	11	95813003	95813003	Human	1	trait
405195920	CV2975976	single nucleotide variant	NM_014679.5(CEP57):c.402A>C (p.Leu134Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV003641469]	uncertain significance	11	95813487	95813487	Human	1	trait
405132727	CV2976740	single nucleotide variant	NM_001211.6(BUB1B):c.480A>G (p.Glu160=)	Mosaic variegated aneuploidy syndrome 1 [RCV003618464]	likely benign	15	40176572	40176572	Human	1	trait
405133155	CV2978169	single nucleotide variant	NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV003618534]	pathogenic	15	40218501	40218501	Human	1	trait
405134094	CV2978207	single nucleotide variant	NM_001211.6(BUB1B):c.795G>A (p.Gln265=)	Mosaic variegated aneuploidy syndrome 1 [RCV003618537]	likely benign	15	40185208	40185208	Human	1	trait
405134467	CV2983623	single nucleotide variant	NM_001211.6(BUB1B):c.1176G>A (p.Lys392=)	Mosaic variegated aneuploidy syndrome 1 [RCV003618642]	likely benign	15	40196662	40196662	Human	1	trait
405132844	CV2984099	deletion	NM_001211.6(BUB1B):c.1983_1994del (p.Gln662_Ser665del)	Mosaic variegated aneuploidy syndrome 1 [RCV003618476]	uncertain significance	15	40206429	40206440	Human	1	trait
405196449	CV2987957	single nucleotide variant	NM_014679.5(CEP57):c.1491T>C (p.Cys497=)	Mosaic variegated aneuploidy syndrome 2 [RCV003641545]	likely benign	11	95831244	95831244	Human	1	trait
405134164	CV2989465	single nucleotide variant	NM_001211.6(BUB1B):c.1682T>C (p.Leu561Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV003618614]	uncertain significance	15	40202642	40202642	Human	1	trait
405197151	CV2990153	single nucleotide variant	NM_014679.5(CEP57):c.622-2A>G	Mosaic variegated aneuploidy syndrome 2 [RCV003641647]	likely pathogenic	11	95818825	95818825	Human	1	trait
405135786	CV2999703	single nucleotide variant	NM_001211.6(BUB1B):c.878A>G (p.Gln293Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV003618779]	uncertain significance	15	40185291	40185291	Human	1	trait
405198331	CV3000556	single nucleotide variant	NM_014679.5(CEP57):c.666G>A (p.Gln222=)	Mosaic variegated aneuploidy syndrome 2 [RCV003641822]	likely benign	11	95818871	95818871	Human	1	trait
405123224	CV3003606	single nucleotide variant	NM_001211.6(BUB1B):c.1568G>T (p.Gly523Val)	Mosaic variegated aneuploidy syndrome 1 [RCV003617326]	uncertain significance	15	40202405	40202405	Human	1	trait
405187623	CV3005982	single nucleotide variant	NM_014679.5(CEP57):c.202+17A>C	Mosaic variegated aneuploidy syndrome 2 [RCV003640420]	likely benign	11	95799405	95799405	Human	1	trait
405187735	CV3009562	single nucleotide variant	NM_014679.5(CEP57):c.1459A>G (p.Ile487Val)	Mosaic variegated aneuploidy syndrome 2 [RCV003640433]	uncertain significance	11	95831212	95831212	Human	1	trait
405124541	CV3016857	single nucleotide variant	NM_001211.6(BUB1B):c.1517+15G>C	Mosaic variegated aneuploidy syndrome 1 [RCV003617482]	likely benign	15	40200374	40200374	Human	1	trait
405188561	CV3018117	single nucleotide variant	NM_014679.5(CEP57):c.504+4A>G	Mosaic variegated aneuploidy syndrome 2 [RCV003640531]	uncertain significance	11	95813593	95813593	Human	1	trait
405188578	CV3018191	single nucleotide variant	NM_014679.5(CEP57):c.798A>T (p.Pro266=)	Mosaic variegated aneuploidy syndrome 2 [RCV003640533]	likely benign	11	95821969	95821969	Human	1	trait
405125982	CV3021167	single nucleotide variant	NM_001211.6(BUB1B):c.339A>C (p.Lys113Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV003617648]	uncertain significance	15	40170636	40170636	Human	1	trait
405188685	CV3021796	single nucleotide variant	NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV003640546]	uncertain significance	11	95829314	95829314	Human	1	trait
405125761	CV3023511	single nucleotide variant	NM_001211.6(BUB1B):c.171G>C (p.Gln57His)	Mosaic variegated aneuploidy syndrome 1 [RCV003617623]	uncertain significance	15	40165188	40165188	Human	1	trait
405125144	CV3025194	single nucleotide variant	NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala)	Mosaic variegated aneuploidy syndrome 1 [RCV003617552]	uncertain significance	15	40218526	40218526	Human	1	trait
405189550	CV3027293	single nucleotide variant	NM_014679.5(CEP57):c.505G>A (p.Val169Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003640646]	uncertain significance	11	95817787	95817787	Human	1	trait
405189392	CV3029920	single nucleotide variant	NM_014679.5(CEP57):c.499A>G (p.Lys167Glu)	Mosaic variegated aneuploidy syndrome 2 [RCV003640627]	uncertain significance	11	95813584	95813584	Human	1	trait
405190050	CV3035154	microsatellite	NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)	Mosaic variegated aneuploidy syndrome 2 [RCV003640709]	pathogenic	11	95813038	95813039	Human		trait
405127299	CV3041466	single nucleotide variant	NM_001211.6(BUB1B):c.1629-17G>A	Mosaic variegated aneuploidy syndrome 1 [RCV003617699]	likely benign	15	40202572	40202572	Human	1	trait
405190826	CV3043495	single nucleotide variant	NM_014679.5(CEP57):c.699+1G>T	Mosaic variegated aneuploidy syndrome 2 [RCV003640818]	likely pathogenic	11	95818905	95818905	Human	1	trait
405127335	CV3043574	single nucleotide variant	NM_001211.6(BUB1B):c.2284+17T>A	Mosaic variegated aneuploidy syndrome 1 [RCV003617754]	likely benign	15	40209792	40209792	Human	1	trait
405126978	CV3047100	single nucleotide variant	NM_001211.6(BUB1B):c.2957+5G>A	Mosaic variegated aneuploidy syndrome 1 [RCV003617788]	uncertain significance	15	40218567	40218567	Human	1	trait
405198790	CV3054441	single nucleotide variant	NM_014679.5(CEP57):c.700-19A>C	Mosaic variegated aneuploidy syndrome 2 [RCV003641889]	likely benign	11	95821852	95821852	Human	1	trait
405136067	CV3055063	single nucleotide variant	NM_001211.6(BUB1B):c.384+6T>C	Mosaic variegated aneuploidy syndrome 1 [RCV003618831]	uncertain significance	15	40170687	40170687	Human	1	trait
405137032	CV3057863	single nucleotide variant	NM_001211.6(BUB1B):c.180-3C>G	Mosaic variegated aneuploidy syndrome 1 [RCV003618921]	uncertain significance	15	40170059	40170059	Human	1	trait
405138128	CV3066496	deletion	NM_001211.6(BUB1B):c.2144-4_2144-3del	Mosaic variegated aneuploidy syndrome 1 [RCV003619003]	uncertain significance	15	40209631	40209632	Human	1	trait
405136551	CV3066835	single nucleotide variant	NM_001211.6(BUB1B):c.1757C>G (p.Pro586Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV003618875]	uncertain significance	15	40206206	40206206	Human	1	trait
405138701	CV3071733	single nucleotide variant	NM_001211.6(BUB1B):c.1198A>T (p.Lys400Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV003619085]	pathogenic	15	40196684	40196684	Human	1	trait
405141020	CV3072042	single nucleotide variant	NM_001211.6(BUB1B):c.2144-13C>T	Mosaic variegated aneuploidy syndrome 1 [RCV003619106]	likely benign	15	40209622	40209622	Human	1	trait
405138478	CV3073673	deletion	NM_001211.6(BUB1B):c.897del (p.Met300fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003619062]	pathogenic	15	40185305	40185305	Human	1	trait
405138575	CV3076664	single nucleotide variant	NM_001211.6(BUB1B):c.1042G>A (p.Ala348Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV003619073]	uncertain significance	15	40185626	40185626	Human	1	trait
405139564	CV3078862	single nucleotide variant	NM_001211.6(BUB1B):c.2175G>A (p.Gln725=)	Mosaic variegated aneuploidy syndrome 1 [RCV003619027]	uncertain significance	15	40209666	40209666	Human	1	trait
405102245	CV3119376	single nucleotide variant	NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV003811637]	uncertain significance	15	40217523	40217523	Human	1	trait
405007491	CV3120951	single nucleotide variant	NM_001211.6(BUB1B):c.29C>T (p.Ala10Val)	Mosaic variegated aneuploidy syndrome 1 [RCV003828554]	uncertain significance	15	40161249	40161249	Human	1	trait
405139776	CV3125570	microsatellite	NM_014679.5(CEP57):c.808-11_808-7del	Mosaic variegated aneuploidy syndrome 2 [RCV003816677]	uncertain significance	11	95822482	95822486	Human		trait
405138491	CV3130801	single nucleotide variant	NM_001211.6(BUB1B):c.2139T>C (p.Thr713=)	Mosaic variegated aneuploidy syndrome 1 [RCV003839035]	likely benign	15	40208766	40208766	Human	1	trait
405132597	CV3133472	single nucleotide variant	NM_001211.6(BUB1B):c.2447A>G (p.Asn816Ser)	Mosaic variegated aneuploidy syndrome 1 [RCV003838442]	uncertain significance	15	40212560	40212560	Human	1	trait
405109093	CV3136777	single nucleotide variant	NM_001211.6(BUB1B):c.2851-14T>C	Mosaic variegated aneuploidy syndrome 1 [RCV003835931]	likely benign	15	40218442	40218442	Human	1	trait
405014013	CV3138848	single nucleotide variant	NM_014679.5(CEP57):c.383-10T>C	Mosaic variegated aneuploidy syndrome 2 [RCV003829185]	likely benign	11	95813458	95813458	Human	1	trait
405051395	CV3150910	single nucleotide variant	NM_001211.6(BUB1B):c.240-18C>A	Mosaic variegated aneuploidy syndrome 1 [RCV003849514]	likely benign	15	40170519	40170519	Human	1	trait
405232444	CV3157582	single nucleotide variant	NM_014679.5(CEP57):c.424C>A (p.Leu142Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003865532]	uncertain significance	11	95813509	95813509	Human	1	trait
405223302	CV3158337	single nucleotide variant	NM_001211.6(BUB1B):c.408G>A (p.Leu136=)	Mosaic variegated aneuploidy syndrome 1 [RCV003863833]	uncertain significance	15	40176500	40176500	Human	1	trait
405181999	CV3159575	single nucleotide variant	NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV003858826]	uncertain significance	11	95831216	95831216	Human	1	trait
405194948	CV3167710	single nucleotide variant	NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)	Mosaic variegated aneuploidy syndrome 1 [RCV003860116]	uncertain significance	15	40220635	40220635	Human	1	trait
405233279	CV3168004	single nucleotide variant	NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV003865672]	uncertain significance	11	95831049	95831049	Human	1	trait
405226554	CV3169440	single nucleotide variant	NM_014679.5(CEP57):c.45+17G>A	Mosaic variegated aneuploidy syndrome 2 [RCV003864464]	likely benign	11	95790760	95790760	Human	1	trait
402472859	CV3172057	single nucleotide variant	NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV003874660]	uncertain significance	11	95831054	95831054	Human	1	trait
402469449	CV3174652	single nucleotide variant	NM_001211.6(BUB1B):c.2386-5T>C	Mosaic variegated aneuploidy syndrome 1 [RCV003873762]	likely benign	15	40212494	40212494	Human	1	trait
402464265	CV3176997	single nucleotide variant	NM_014679.5(CEP57):c.422A>T (p.Asn141Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV003872628]	uncertain significance	11	95813507	95813507	Human	1	trait
402464434	CV3177042	single nucleotide variant	NM_001211.6(BUB1B):c.414G>A (p.Met138Ile)	Mosaic variegated aneuploidy syndrome 1 [RCV003872673]	uncertain significance	15	40176506	40176506	Human	1	trait
402491497	CV3182502	deletion	NM_001211.6(BUB1B):c.1302del (p.Ser435fs)	Mosaic variegated aneuploidy syndrome 1 [RCV003876989]	pathogenic	15	40199627	40199627	Human	1	trait
405878039	CV3406236	deletion	NC_000015.9:g.(?_40500828)_(40500981_?)del	Mosaic variegated aneuploidy syndrome 1 [RCV004583014]	pathogenic				Human	1	trait
405878040	CV3406237	deletion	NC_000015.9:g.(?_40500828)_(40502421_?)del	Mosaic variegated aneuploidy syndrome 1 [RCV004583015]	pathogenic				Human	1	trait
405878042	CV3406238	duplication	NC_000015.9:g.(?_38545387)_(42105565_?)dup	Mosaic variegated aneuploidy syndrome 1 [RCV004583016]	uncertain significance				Human	1	trait
407476859	CV3494959	duplication	NM_001211.6(BUB1B):c.803dup (p.Asn268fs)	Mosaic variegated aneuploidy syndrome 1 [RCV004690860]	pathogenic	15	40185212	40185213	Human	1	trait
596922227	CV3536999	single nucleotide variant	NM_001211.6(BUB1B):c.2843C>T (p.Pro948Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV004785993]	uncertain significance	15	40217660	40217660	Human	1	trait
596943869	CV3544419	single nucleotide variant	NM_001211.6(BUB1B):c.2478T>A (p.Tyr826Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV004800899]	pathogenic	15	40212591	40212591	Human	1	trait
597669751	CV3707044	single nucleotide variant	NM_014679.5(CEP57):c.142A>G (p.Ser48Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV005004752]	uncertain significance	11	95799328	95799328	Human	1	trait
597669759	CV3707045	single nucleotide variant	NM_014679.5(CEP57):c.973C>T (p.Arg325Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV005004753]	pathogenic	11	95827873	95827873	Human	1	trait
597669767	CV3707046	single nucleotide variant	NM_014679.5(CEP57):c.1016G>A (p.Arg339Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV005004754]	uncertain significance	11	95827916	95827916	Human	1	trait
597684526	CV3707047	single nucleotide variant	NM_014679.5(CEP57):c.1048C>G (p.Pro350Ala)	Mosaic variegated aneuploidy syndrome 2 [RCV005006746]	uncertain significance	11	95827948	95827948	Human	1	trait
597684539	CV3707048	microsatellite	NM_014679.5(CEP57):c.1300AAG[1] (p.Lys435del)	Mosaic variegated aneuploidy syndrome 2 [RCV005006747]	uncertain significance	11	95831051	95831053	Human		trait
597669775	CV3707049	single nucleotide variant	NM_014679.5(CEP57):c.1352G>A (p.Ser451Asn)	Mosaic variegated aneuploidy syndrome 2 [RCV005004755]	uncertain significance	11	95831105	95831105	Human	1	trait
597708790	CV3707824	single nucleotide variant	NM_001211.6(BUB1B):c.239+2T>C	Mosaic variegated aneuploidy syndrome 1 [RCV005009544]	likely pathogenic	15	40170123	40170123	Human	2	trait
597708811	CV3707826	single nucleotide variant	NM_001211.6(BUB1B):c.418A>G (p.Ser140Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV005009546]	uncertain significance	15	40176510	40176510	Human	2	trait
597708830	CV3707827	deletion	NM_001211.6(BUB1B):c.995del (p.Ala332fs)	Mosaic variegated aneuploidy syndrome 1 [RCV005009548]	likely pathogenic	15	40185579	40185579	Human	2	trait
597708840	CV3707828	single nucleotide variant	NM_001211.6(BUB1B):c.1636G>A (p.Ala546Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV005009549]	uncertain significance	15	40202596	40202596	Human	2	trait
597708852	CV3707829	single nucleotide variant	NM_001211.6(BUB1B):c.2051G>C (p.Gly684Ala)	Mosaic variegated aneuploidy syndrome 1 [RCV005009550]	uncertain significance	15	40208678	40208678	Human	2	trait
597708863	CV3707830	single nucleotide variant	NM_001211.6(BUB1B):c.2434A>G (p.Lys812Glu)	Mosaic variegated aneuploidy syndrome 1 [RCV005009551]	uncertain significance	15	40212547	40212547	Human	2	trait
597708874	CV3707831	single nucleotide variant	NM_001211.6(BUB1B):c.2450A>C (p.Glu817Ala)	Mosaic variegated aneuploidy syndrome 1 [RCV005009552]	uncertain significance	15	40212563	40212563	Human	2	trait
597708885	CV3707832	single nucleotide variant	NM_001211.6(BUB1B):c.2842C>T (p.Pro948Ser)	Mosaic variegated aneuploidy syndrome 1 [RCV005009553]	uncertain significance	15	40217659	40217659	Human	2	trait
597708894	CV3707833	single nucleotide variant	NM_001211.6(BUB1B):c.2905C>G (p.Leu969Val)	Mosaic variegated aneuploidy syndrome 1 [RCV005009554]	uncertain significance	15	40218510	40218510	Human	2	trait
597708905	CV3707834	single nucleotide variant	NM_001211.6(BUB1B):c.2927C>T (p.Ser976Phe)	Mosaic variegated aneuploidy syndrome 1 [RCV005009555]	uncertain significance	15	40218532	40218532	Human	2	trait
597736876	CV3718615	single nucleotide variant	NM_004237.4(TRIP13):c.140A>G (p.Asn47Ser)	Mosaic variegated aneuploidy syndrome 3 [RCV005037704]	uncertain significance	5	894834	894834	Human	1	trait
597682097	CV3718635	single nucleotide variant	NM_004237.4(TRIP13):c.955A>G (p.Ile319Val)	Mosaic variegated aneuploidy syndrome 3 [RCV005045479]	uncertain significance	5	911931	911931	Human	1	trait
597830400	CV3735407	deletion	NM_001211.6(BUB1B):c.192del (p.Glu63_Tyr64insTer)	Mosaic variegated aneuploidy syndrome 1 [RCV005055324]	pathogenic	15	40170074	40170074	Human	1	trait
597894852	CV3744127	single nucleotide variant	NM_001211.6(BUB1B):c.2535+5G>A	Mosaic variegated aneuploidy syndrome 1 [RCV005071597]	uncertain significance	15	40212653	40212653	Human	1	trait
597851707	CV3747039	single nucleotide variant	NM_014679.5(CEP57):c.505-19A>G	Mosaic variegated aneuploidy syndrome 2 [RCV005060667]	likely benign	11	95817768	95817768	Human	1	trait
597850029	CV3761745	single nucleotide variant	NM_001211.6(BUB1B):c.1692A>T (p.Ser564=)	Mosaic variegated aneuploidy syndrome 1 [RCV005087841]	likely benign	15	40202652	40202652	Human	1	trait
597877720	CV3763169	single nucleotide variant	NM_014679.5(CEP57):c.90G>T (p.Arg30=)	Mosaic variegated aneuploidy syndrome 2 [RCV005108764]	likely benign	11	95799276	95799276	Human	1	trait
597879478	CV3763595	single nucleotide variant	NM_001211.6(BUB1B):c.2180G>A (p.Arg727His)	Mosaic variegated aneuploidy syndrome 1 [RCV005108993]	uncertain significance	15	40209671	40209671	Human	1	trait
597874370	CV3766133	single nucleotide variant	NM_001211.6(BUB1B):c.2440C>T (p.Arg814Cys)	Mosaic variegated aneuploidy syndrome 1 [RCV005108265]	uncertain significance	15	40212553	40212553	Human	1	trait
597901820	CV3771425	single nucleotide variant	NM_001211.6(BUB1B):c.2143+13T>C	Mosaic variegated aneuploidy syndrome 1 [RCV005112390]	likely benign	15	40208783	40208783	Human	1	trait
597905001	CV3772852	single nucleotide variant	NM_001211.6(BUB1B):c.2086T>C (p.Ser696Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV005112917]	uncertain significance	15	40208713	40208713	Human	1	trait
597894864	CV3773370	single nucleotide variant	NM_014679.5(CEP57):c.766G>C (p.Ala256Pro)	Mosaic variegated aneuploidy syndrome 2 [RCV005111277]	uncertain significance	11	95821937	95821937	Human	1	trait
597904395	CV3793278	single nucleotide variant	NM_014679.5(CEP57):c.203C>T (p.Ala68Val)	Mosaic variegated aneuploidy syndrome 2 [RCV005153246]	uncertain significance	11	95812932	95812932	Human	1	trait
597876855	CV3813283	single nucleotide variant	NM_014679.5(CEP57):c.1108G>A (p.Glu370Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV005149219]	uncertain significance	11	95828008	95828008	Human	1	trait
597840130	CV3825262	single nucleotide variant	NM_001211.6(BUB1B):c.2475T>C (p.Cys825=)	Mosaic variegated aneuploidy syndrome 1 [RCV005171945]	likely benign	15	40212588	40212588	Human	1	trait
597832082	CV3830901	microsatellite	NM_014679.5(CEP57):c.504+5_504+8del	Mosaic variegated aneuploidy syndrome 2 [RCV005170299]	uncertain significance	11	95813588	95813591	Human		trait
597832819	CV3831355	single nucleotide variant	NM_001211.6(BUB1B):c.1058T>C (p.Met353Thr)	Mosaic variegated aneuploidy syndrome 1 [RCV005170558]	uncertain significance	15	40185642	40185642	Human	1	trait
597882760	CV3834084	single nucleotide variant	NM_001211.6(BUB1B):c.2215G>T (p.Ala739Ser)	Mosaic variegated aneuploidy syndrome 1 [RCV005178403]	uncertain significance	15	40209706	40209706	Human	1	trait
597886392	CV3835014	single nucleotide variant	NM_014679.5(CEP57):c.147T>C (p.Asp49=)	Mosaic variegated aneuploidy syndrome 2 [RCV005178738]	likely benign	11	95799333	95799333	Human	1	trait
597900720	CV3835416	single nucleotide variant	NM_001211.6(BUB1B):c.110T>A (p.Ile37Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV005181139]	uncertain significance	15	40165127	40165127	Human	1	trait
597901231	CV3835497	single nucleotide variant	NM_001211.6(BUB1B):c.1059-13T>G	Mosaic variegated aneuploidy syndrome 1 [RCV005181221]	likely benign	15	40196532	40196532	Human	1	trait
597873673	CV3836339	single nucleotide variant	NM_001211.6(BUB1B):c.2536-11T>A	Mosaic variegated aneuploidy syndrome 1 [RCV005177136]	uncertain significance	15	40213321	40213321	Human	1	trait
597887680	CV3839024	single nucleotide variant	NM_014679.5(CEP57):c.790T>A (p.Ser264Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV005179109]	uncertain significance	11	95821961	95821961	Human	1	trait
597891885	CV3840202	single nucleotide variant	NM_014679.5(CEP57):c.1154T>C (p.Ile385Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV005179901]	uncertain significance	11	95829213	95829213	Human	1	trait
597904979	CV3846243	single nucleotide variant	NM_014679.5(CEP57):c.1437G>A (p.Gln479=)	Mosaic variegated aneuploidy syndrome 2 [RCV005181866]	likely benign	11	95831190	95831190	Human	1	trait
597904160	CV3856220	single nucleotide variant	NM_014679.5(CEP57):c.383-13G>A	Mosaic variegated aneuploidy syndrome 2 [RCV005202448]	likely benign	11	95813455	95813455	Human	1	trait
597893073	CV3856828	single nucleotide variant	NM_014679.5(CEP57):c.699G>A (p.Glu233=)	Mosaic variegated aneuploidy syndrome 2 [RCV005200893]	uncertain significance	11	95818904	95818904	Human	1	trait
597873326	CV3859246	single nucleotide variant	NM_014679.5(CEP57):c.108T>C (p.Tyr36=)	Mosaic variegated aneuploidy syndrome 2 [RCV005197835]	likely benign	11	95799294	95799294	Human	1	trait
12886950	CV398929	single nucleotide variant	NM_014679.5(CEP57):c.520G>C (p.Glu174Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000468184]	uncertain significance	11	95817802	95817802	Human	1	trait
12889137	CV400081	single nucleotide variant	NM_001211.6(BUB1B):c.1079C>G (p.Pro360Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV000472241]	uncertain significance	15	40196565	40196565	Human	1	trait
12880920	CV400084	single nucleotide variant	NM_001211.6(BUB1B):c.1628+9T>C	Mosaic variegated aneuploidy syndrome 1 [RCV000456896]	likely benign	15	40202474	40202474	Human	1	trait
12890137	CV400568	single nucleotide variant	NM_001211.6(BUB1B):c.751+9G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002063670]	likely benign	15	40183892	40183892	Human	1	trait
12887101	CV400570	indel	NM_001211.6(BUB1B):c.1127_1128delinsTT (p.Gly376Val)	Mosaic variegated aneuploidy syndrome 1 [RCV000468452]	uncertain significance	15	40196613	40196614	Human		trait
12891656	CV400886	single nucleotide variant	NM_001211.6(BUB1B):c.273A>T (p.Gln91His)	Mosaic variegated aneuploidy syndrome 1 [RCV000476985]	uncertain significance	15	40170570	40170570	Human	1	trait
12880733	CV400894	single nucleotide variant	NM_001211.6(BUB1B):c.1442A>C (p.Gln481Pro)	Mosaic variegated aneuploidy syndrome 1 [RCV002230308]	uncertain significance	15	40200284	40200284	Human	1	trait
12884965	CV400898	single nucleotide variant	NM_001211.6(BUB1B):c.2308C>T (p.Arg770Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV000464463]	pathogenic	15	40210133	40210133	Human	1	trait
13208213	CV424574	single nucleotide variant	NM_004237.4(TRIP13):c.1060C>T (p.Arg354Ter)	Mosaic variegated aneuploidy syndrome 3 [RCV000496081]	pathogenic	5	914504	914504	Human	1	trait
13208215	CV424575	single nucleotide variant	NM_004237.4(TRIP13):c.673-1G>C	Mosaic variegated aneuploidy syndrome 3 [RCV000496083]	pathogenic	5	907987	907987	Human	1	trait
13213881	CV429646	single nucleotide variant	NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV000500457]	pathogenic	15	40170637	40170637	Human	1	trait
13435598	CV432425	single nucleotide variant	NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV000505636]	pathogenic	15	40202608	40202608	Human	1	trait
13476006	CV461730	single nucleotide variant	NM_014679.5(CEP57):c.1008A>G (p.Val336=)	Mosaic variegated aneuploidy syndrome 2 [RCV000548978]	likely benign	11	95827908	95827908	Human	1	trait
13486748	CV462037	single nucleotide variant	NM_014679.5(CEP57):c.925C>T (p.Leu309Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV000531423]	likely benign	11	95827825	95827825	Human	1	trait
13472570	CV462356	deletion	NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del)	Mosaic variegated aneuploidy syndrome 2 [RCV000524965]	uncertain significance	11	95831045	95831053	Human	1	trait
13471927	CV464182	single nucleotide variant	NM_001211.6(BUB1B):c.1289-8G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002232283]	likely benign	15	40199607	40199607	Human	1	trait
13495821	CV464191	single nucleotide variant	NM_001211.6(BUB1B):c.2256G>A (p.Lys752=)	Mosaic variegated aneuploidy syndrome 1 [RCV002231796]	likely benign	15	40209747	40209747	Human	1	trait
13490641	CV464740	single nucleotide variant	NM_001211.6(BUB1B):c.2572A>G (p.Ile858Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002231800]	uncertain significance	15	40213368	40213368	Human	1	trait
13490537	CV464745	single nucleotide variant	NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln)	Mosaic variegated aneuploidy syndrome 1 [RCV000533586]	uncertain significance	15	40220602	40220602	Human	1	trait
13491193	CV464987	single nucleotide variant	NM_001211.6(BUB1B):c.810T>C (p.Ser270=)	Mosaic variegated aneuploidy syndrome 1 [RCV002231801]	likely benign	15	40185223	40185223	Human	1	trait
13493655	CV464990	single nucleotide variant	NM_001211.6(BUB1B):c.1628+4C>T	Mosaic variegated aneuploidy syndrome 1 [RCV003153709]	uncertain significance	15	40202469	40202469	Human	1	trait
13470789	CV464997	single nucleotide variant	NM_001211.6(BUB1B):c.750G>C (p.Lys250Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV002232290]	uncertain significance	15	40183882	40183882	Human	1	trait
13622110	CV526546	single nucleotide variant	NM_014679.5(CEP57):c.448A>T (p.Met150Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV000649347]	uncertain significance	11	95813533	95813533	Human	1	trait
13622105	CV526550	single nucleotide variant	NM_014679.5(CEP57):c.787A>C (p.Lys263Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000649342]	uncertain significance	11	95821958	95821958	Human	1	trait
13622102	CV526585	single nucleotide variant	NM_014679.5(CEP57):c.503A>T (p.Gln168Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV000649339]	uncertain significance	11	95813588	95813588	Human	1	trait
13622104	CV526587	single nucleotide variant	NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV000649341]	uncertain significance	11	95827958	95827958	Human	1	trait
13622113	CV526806	single nucleotide variant	NM_014679.5(CEP57):c.89G>A (p.Arg30Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000649350]	uncertain significance	11	95799275	95799275	Human	1	trait
13622112	CV527096	single nucleotide variant	NM_014679.5(CEP57):c.23C>T (p.Ala8Val)	Mosaic variegated aneuploidy syndrome 2 [RCV000649349]	uncertain significance	11	95790721	95790721	Human	1	trait
13622114	CV527102	single nucleotide variant	NM_014679.5(CEP57):c.1065T>C (p.Gly355=)	Mosaic variegated aneuploidy syndrome 2 [RCV000649351]	likely benign	11	95827965	95827965	Human	1	trait
13610456	CV528731	single nucleotide variant	NM_001211.6(BUB1B):c.767G>T (p.Arg256Ile)	Mosaic variegated aneuploidy syndrome 1 [RCV002233504]	uncertain significance	15	40185180	40185180	Human	1	trait
13610437	CV528747	single nucleotide variant	NM_001211.6(BUB1B):c.1288+5G>A	Mosaic variegated aneuploidy syndrome 1 [RCV000641222]	uncertain significance	15	40196779	40196779	Human	1	trait
13610467	CV529146	single nucleotide variant	NM_001211.6(BUB1B):c.2385+7C>T	Mosaic variegated aneuploidy syndrome 1 [RCV000641246]	likely benign	15	40210217	40210217	Human	1	trait
13610450	CV529147	single nucleotide variant	NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV000641233]	uncertain significance	15	40218538	40218538	Human	1	trait
13610439	CV529281	single nucleotide variant	NM_001211.6(BUB1B):c.2285-4A>G	Mosaic variegated aneuploidy syndrome 1 [RCV000641225]	uncertain significance	15	40210106	40210106	Human	1	trait
13610469	CV529282	single nucleotide variant	NM_001211.6(BUB1B):c.2386-9G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002233063]	likely benign	15	40212490	40212490	Human	1	trait
13815882	CV564940	single nucleotide variant	NM_014679.5(CEP57):c.50G>C (p.Ser17Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV000705995]	uncertain significance	11	95799236	95799236	Human	1	trait
13817261	CV566223	deletion	NM_014679.5(CEP57):c.505-9_505-6del	Mosaic variegated aneuploidy syndrome 2 [RCV000692901]	uncertain significance	11	95817776	95817779	Human	1	trait
13821653	CV566234	single nucleotide variant	NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV000696209]	pathogenic\|uncertain significance	11	95828017	95828017	Human	1	trait
13819344	CV566996	single nucleotide variant	NM_001211.6(BUB1B):c.1387A>T (p.Arg463Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV002233269]	pathogenic	15	40199713	40199713	Human	1	trait
13805049	CV567007	single nucleotide variant	NM_001211.6(BUB1B):c.3067T>G (p.Phe1023Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002233681]	uncertain significance	15	40220673	40220673	Human	1	trait
13801312	CV567575	single nucleotide variant	NM_014679.5(CEP57):c.1273C>T (p.Leu425=)	Mosaic variegated aneuploidy syndrome 2 [RCV000697740]	uncertain significance	11	95831026	95831026	Human	1	trait
13818068	CV568717	single nucleotide variant	NM_001211.6(BUB1B):c.550G>A (p.Glu184Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV002233252]	uncertain significance	15	40176642	40176642	Human	1	trait
13805469	CV568738	single nucleotide variant	NM_001211.6(BUB1B):c.2397A>G (p.Gln799=)	Mosaic variegated aneuploidy syndrome 1 [RCV002233124]	likely benign\|uncertain significance	15	40212510	40212510	Human	1	trait
13816021	CV569332	single nucleotide variant	NM_001211.6(BUB1B):c.1351A>G (p.Lys451Glu)	Mosaic variegated aneuploidy syndrome 1 [RCV002233431]	uncertain significance	15	40199677	40199677	Human	1	trait
13814417	CV569338	single nucleotide variant	NM_001211.6(BUB1B):c.1954C>T (p.Gln652Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV002232977]	pathogenic	15	40206403	40206403	Human	1	trait
13813368	CV569349	single nucleotide variant	NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002233407]	uncertain significance	15	40220661	40220661	Human	1	trait
13810700	CV571050	single nucleotide variant	NM_014679.5(CEP57):c.949C>T (p.His317Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV000702698]	uncertain significance	11	95827849	95827849	Human	1	trait
13801527	CV573222	single nucleotide variant	NM_001211.6(BUB1B):c.1628+5G>A	Mosaic variegated aneuploidy syndrome 1 [RCV000697896]	uncertain significance	15	40202470	40202470	Human	1	trait
13808224	CV573224	single nucleotide variant	NM_001211.6(BUB1B):c.2323T>C (p.Cys775Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002232853]	uncertain significance	15	40210148	40210148	Human	1	trait
14704444	CV626211	deletion	NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer)	Mosaic variegated aneuploidy syndrome 2 [RCV000791171]	likely pathogenic	11	95831155	95831155	Human	1	trait
14716830	CV640526	single nucleotide variant	NM_014679.5(CEP57):c.122C>T (p.Ser41Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV000795242]	uncertain significance	11	95799308	95799308	Human	1	trait
14722425	CV640528	single nucleotide variant	NM_014679.5(CEP57):c.451C>T (p.Arg151Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV000797548]	pathogenic	11	95813536	95813536	Human	1	trait
14741458	CV640533	single nucleotide variant	NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln)	Mosaic variegated aneuploidy syndrome 2 [RCV000822246]	uncertain significance	11	95831156	95831156	Human	1	trait
14730197	CV643128	single nucleotide variant	NM_001211.6(BUB1B):c.178C>T (p.Arg60Trp)	Mosaic variegated aneuploidy syndrome 1 [RCV002235095]	uncertain significance	15	40165195	40165195	Human	1	trait
14720149	CV643133	single nucleotide variant	NM_001211.6(BUB1B):c.636A>C (p.Glu212Asp)	Mosaic variegated aneuploidy syndrome 1 [RCV002234841]	uncertain significance	15	40183768	40183768	Human	1	trait
14711583	CV643135	single nucleotide variant	NM_001211.6(BUB1B):c.922C>G (p.Leu308Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002234777]	uncertain significance	15	40185335	40185335	Human	1	trait
14731927	CV643140	single nucleotide variant	NM_001211.6(BUB1B):c.1203G>C (p.Glu401Asp)	Mosaic variegated aneuploidy syndrome 1 [RCV002234911]	uncertain significance	15	40196689	40196689	Human	1	trait
14714536	CV643141	single nucleotide variant	NM_001211.6(BUB1B):c.1262G>A (p.Arg421Gln)	Mosaic variegated aneuploidy syndrome 1 [RCV002234797]	uncertain significance	15	40196748	40196748	Human	1	trait
14722888	CV643144	single nucleotide variant	NM_001211.6(BUB1B):c.1973C>T (p.Thr658Ile)	Mosaic variegated aneuploidy syndrome 1 [RCV000797736]	uncertain significance	15	40206422	40206422	Human	1	trait
14705683	CV643148	single nucleotide variant	NM_001211.6(BUB1B):c.2316C>G (p.Tyr772Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV002234183]	pathogenic	15	40210141	40210141	Human	1	trait
14706871	CV643154	single nucleotide variant	NM_001211.6(BUB1B):c.3074C>A (p.Thr1025Asn)	Mosaic variegated aneuploidy syndrome 1 [RCV002235786]	uncertain significance	15	40220680	40220680	Human	1	trait
14723416	CV643155	single nucleotide variant	NM_001211.6(BUB1B):c.3124A>G (p.Thr1042Ala)	Mosaic variegated aneuploidy syndrome 1 [RCV002234871]	uncertain significance	15	40220730	40220730	Human	1	trait
14719196	CV652248	single nucleotide variant	NM_014679.5(CEP57):c.1272+4A>C	Mosaic variegated aneuploidy syndrome 2 [RCV000812499]	uncertain significance	11	95829335	95829335	Human	1	trait
14743494	CV652558	single nucleotide variant	NM_001211.6(BUB1B):c.2957+1G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002235572]	uncertain significance	15	40218563	40218563	Human	1	trait
14739666	CV652728	single nucleotide variant	NM_001211.6(BUB1B):c.751+4A>G	Mosaic variegated aneuploidy syndrome 1 [RCV000821458]	uncertain significance	15	40183887	40183887	Human	1	trait
15124987	CV685295	single nucleotide variant	NM_014679.5(CEP57):c.808-6A>G	Mosaic variegated aneuploidy syndrome 2 [RCV000862508]	likely benign	11	95822493	95822493	Human	1	trait
15132416	CV685296	deletion	NM_014679.5(CEP57):c.1272+7_1272+8del	Mosaic variegated aneuploidy syndrome 2 [RCV000863797]	benign	11	95829338	95829339	Human	1	trait
15119271	CV685406	single nucleotide variant	NM_001211.6(BUB1B):c.1058+7G>T	Mosaic variegated aneuploidy syndrome 1 [RCV002064433]	likely benign	15	40185649	40185649	Human	1	trait
15153229	CV687836	single nucleotide variant	NM_014679.5(CEP57):c.985A>G (p.Ser329Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV000867602]	likely benign	11	95827885	95827885	Human	1	trait
15156088	CV687837	single nucleotide variant	NM_014679.5(CEP57):c.1020T>C (p.Gly340=)	Mosaic variegated aneuploidy syndrome 2 [RCV000868163]	likely benign	11	95827920	95827920	Human	1	trait
15098392	CV690015	single nucleotide variant	NM_014679.5(CEP57):c.621+7G>T	Mosaic variegated aneuploidy syndrome 2 [RCV001479465]	likely benign	11	95817910	95817910	Human	1	trait
15099615	CV690097	microsatellite	NM_001211.6(BUB1B):c.581+10_581+13del	Mosaic variegated aneuploidy syndrome 1 [RCV002235181]	likely benign	15	40176679	40176682	Human		trait
15159087	CV690098	single nucleotide variant	NM_001211.6(BUB1B):c.967-4C>G	Mosaic variegated aneuploidy syndrome 1 [RCV000868760]	likely benign	15	40185547	40185547	Human	1	trait
15135461	CV693668	single nucleotide variant	NM_001211.6(BUB1B):c.2889A>G (p.Leu963=)	Mosaic variegated aneuploidy syndrome 1 [RCV000876648]	likely benign	15	40218494	40218494	Human	1	trait
15115728	CV695638	single nucleotide variant	NM_001211.6(BUB1B):c.1059-10G>A	Mosaic variegated aneuploidy syndrome 1 [RCV000873197]	likely benign	15	40196535	40196535	Human	1	trait
15108556	CV695639	single nucleotide variant	NM_001211.6(BUB1B):c.2144-4G>A	Mosaic variegated aneuploidy syndrome 1 [RCV000871717]	likely benign	15	40209631	40209631	Human	1	trait
15156750	CV744868	single nucleotide variant	NM_001211.6(BUB1B):c.751+9G>C	Mosaic variegated aneuploidy syndrome 1 [RCV001408674]	likely benign	15	40183892	40183892	Human	1	trait
15129832	CV776337	single nucleotide variant	NM_001211.6(BUB1B):c.2535+10A>C	Mosaic variegated aneuploidy syndrome 1 [RCV001400688]	likely benign	15	40212658	40212658	Human	1	trait
15184195	CV778008	single nucleotide variant	NM_014679.5(CEP57):c.46-8T>A	Mosaic variegated aneuploidy syndrome 2 [RCV001422428]	likely benign	11	95799224	95799224	Human	1	trait
15169430	CV778241	single nucleotide variant	NM_001211.6(BUB1B):c.35+9G>A	Mosaic variegated aneuploidy syndrome 1 [RCV000949455]	likely benign	15	40161264	40161264	Human	1	trait
15107741	CV779587	microsatellite	NM_014679.5(CEP57):c.382+10_382+12del	Mosaic variegated aneuploidy syndrome 2 [RCV002547274]	likely benign	11	95813118	95813120	Human		trait
15135240	CV784244	single nucleotide variant	NM_014679.5(CEP57):c.1104G>A (p.Gln368=)	Mosaic variegated aneuploidy syndrome 2 [RCV001434616]	likely benign	11	95828004	95828004	Human	1	trait
15137442	CV784901	single nucleotide variant	NM_001211.6(BUB1B):c.2037C>T (p.Ala679=)	Mosaic variegated aneuploidy syndrome 1 [RCV000982293]	likely benign	15	40208664	40208664	Human	1	trait
15108327	CV787729	single nucleotide variant	NM_014679.5(CEP57):c.46-9A>C	Mosaic variegated aneuploidy syndrome 2 [RCV001464532]	likely benign	11	95799223	95799223	Human	1	trait
15102953	CV787930	single nucleotide variant	NM_001211.6(BUB1B):c.2144-6T>C	Mosaic variegated aneuploidy syndrome 1 [RCV001469797]	likely benign	15	40209629	40209629	Human	1	trait
21072635	CV791441	duplication	NM_001211.6(BUB1B):c.385-2460_385-2453dup	Mosaic variegated aneuploidy syndrome 1 [RCV000989285]	benign	15	40174016	40174017	Human	1	trait
21072637	CV791442	single nucleotide variant	NM_001211.6(BUB1B):c.585A>G (p.Gln195=)	Mosaic variegated aneuploidy syndrome 1 [RCV000989286]	likely benign\|conflicting interpretations of pathogenicity	15	40183717	40183717	Human	1	trait
26905741	CV839179	single nucleotide variant	NM_014679.5(CEP57):c.258G>C (p.Glu86Asp)	Mosaic variegated aneuploidy syndrome 2 [RCV001051455]	uncertain significance	11	95812987	95812987	Human	1	trait
26890175	CV839180	single nucleotide variant	NM_014679.5(CEP57):c.335T>A (p.Ile112Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001067749]	uncertain significance	11	95813064	95813064	Human	1	trait
26893460	CV839182	single nucleotide variant	NM_014679.5(CEP57):c.746C>T (p.Ala249Val)	Mosaic variegated aneuploidy syndrome 2 [RCV001069045]	uncertain significance	11	95821917	95821917	Human	1	trait
26897548	CV839184	single nucleotide variant	NM_014679.5(CEP57):c.918T>A (p.Asn306Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001070356]	uncertain significance	11	95827818	95827818	Human	1	trait
26922349	CV839187	indel	NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu)	Mosaic variegated aneuploidy syndrome 2 [RCV001061908]	uncertain significance	11	95827975	95827976	Human		trait
26893154	CV839188	deletion	NM_014679.5(CEP57):c.1281_1295del (p.425LEKQK[1])	Mosaic variegated aneuploidy syndrome 2 [RCV001047227]	uncertain significance	11	95831029	95831043	Human	1	trait
26889888	CV842248	single nucleotide variant	NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe)	Mosaic variegated aneuploidy syndrome 1 [RCV001067637]	uncertain significance	15	40165064	40165064	Human	1	trait
26901956	CV842250	single nucleotide variant	NM_001211.6(BUB1B):c.211G>A (p.Gly71Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002239381]	uncertain significance	15	40170093	40170093	Human	1	trait
26917000	CV842251	single nucleotide variant	NM_001211.6(BUB1B):c.310A>G (p.Arg104Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV001042361]	uncertain significance	15	40170607	40170607	Human	1	trait
26915377	CV842253	single nucleotide variant	NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001055671]	pathogenic	15	40170655	40170655	Human	1	trait
26896801	CV842254	single nucleotide variant	NM_001211.6(BUB1B):c.389G>A (p.Arg130His)	Mosaic variegated aneuploidy syndrome 1 [RCV002240570]	uncertain significance	15	40176481	40176481	Human	1	trait
26920959	CV842257	single nucleotide variant	NM_001211.6(BUB1B):c.518C>T (p.Ala173Val)	Mosaic variegated aneuploidy syndrome 1 [RCV001060520]	uncertain significance	15	40176610	40176610	Human	1	trait
26912756	CV842259	deletion	NM_001211.6(BUB1B):c.709_712del (p.Thr237fs)	Mosaic variegated aneuploidy syndrome 1 [RCV001053809]	pathogenic	15	40183839	40183842	Human	1	trait
26920433	CV842261	single nucleotide variant	NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001059973]	pathogenic	15	40185338	40185338	Human	1	trait
26908618	CV842266	single nucleotide variant	NM_001211.6(BUB1B):c.1247G>T (p.Arg416Leu)	Mosaic variegated aneuploidy syndrome 1 [RCV002240225]	uncertain significance	15	40196733	40196733	Human	1	trait
26907627	CV842269	single nucleotide variant	NM_001211.6(BUB1B):c.1444A>G (p.Ile482Val)	Mosaic variegated aneuploidy syndrome 1 [RCV001052300]	uncertain significance	15	40200286	40200286	Human	1	trait
26900950	CV842270	single nucleotide variant	NM_001211.6(BUB1B):c.1532C>T (p.Ala511Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002240577]	uncertain significance	15	40200945	40200945	Human	1	trait
26914932	CV842271	single nucleotide variant	NM_001211.6(BUB1B):c.1955A>G (p.Gln652Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002240255]	uncertain significance	15	40206404	40206404	Human	1	trait
26918736	CV842276	single nucleotide variant	NM_001211.6(BUB1B):c.2658G>C (p.Arg886Ser)	Mosaic variegated aneuploidy syndrome 1 [RCV002240354]	uncertain significance	15	40213454	40213454	Human	1	trait
26916451	CV842279	single nucleotide variant	NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr)	Mosaic variegated aneuploidy syndrome 1 [RCV002239325]	uncertain significance	15	40217651	40217651	Human	1	trait
26918038	CV851468	single nucleotide variant	NM_014679.5(CEP57):c.382+4T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001057492]	uncertain significance	11	95813115	95813115	Human	1	trait
26890029	CV851607	single nucleotide variant	NM_001211.6(BUB1B):c.385-10T>G	Mosaic variegated aneuploidy syndrome 1 [RCV002240174]	uncertain significance	15	40176467	40176467	Human	1	trait
26920476	CV851609	single nucleotide variant	NM_001211.6(BUB1B):c.1568-3T>C	Mosaic variegated aneuploidy syndrome 1 [RCV002240382]	uncertain significance	15	40202402	40202402	Human	1	trait
26897457	CV852035	single nucleotide variant	NM_001211.6(BUB1B):c.967-2A>T	Mosaic variegated aneuploidy syndrome 1 [RCV001070312]	likely pathogenic	15	40185549	40185549	Human	1	trait
26899274	CV852648	single nucleotide variant	NM_014679.5(CEP57):c.1273-7G>A	Mosaic variegated aneuploidy syndrome 2 [RCV001034951]	uncertain significance	11	95831019	95831019	Human	1	trait
38482164	CV927302	deletion	NM_001211.6(BUB1B):c.578del (p.His193fs)	Mosaic variegated aneuploidy syndrome 1 [RCV001218336]	pathogenic	15	40176670	40176670	Human	1	trait
38491366	CV927303	deletion	NM_001211.6(BUB1B):c.665_667del (p.Pro222del)	Mosaic variegated aneuploidy syndrome 1 [RCV002241297]	uncertain significance	15	40183795	40183797	Human	1	trait
38479039	CV927305	single nucleotide variant	NM_001211.6(BUB1B):c.1533G>A (p.Ala511=)	Mosaic variegated aneuploidy syndrome 1 [RCV001216888]	likely benign\|uncertain significance	15	40200946	40200946	Human	1	trait
38477549	CV927306	single nucleotide variant	NM_001211.6(BUB1B):c.2143G>A (p.Glu715Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV002241123]	uncertain significance	15	40208770	40208770	Human	1	trait
38476598	CV935863	single nucleotide variant	NM_014679.5(CEP57):c.581A>G (p.Gln194Arg)	Mosaic variegated aneuploidy syndrome 2 [RCV001204759]	uncertain significance	11	95817863	95817863	Human	1	trait
38478253	CV935864	single nucleotide variant	NM_014679.5(CEP57):c.778A>T (p.Lys260Ter)	Mosaic variegated aneuploidy syndrome 2 [RCV001205462]	pathogenic	11	95821949	95821949	Human	1	trait
38472338	CV935865	single nucleotide variant	NM_014679.5(CEP57):c.841C>T (p.His281Tyr)	Mosaic variegated aneuploidy syndrome 2 [RCV001214046]	uncertain significance	11	95822532	95822532	Human	1	trait
38459819	CV935866	single nucleotide variant	NM_014679.5(CEP57):c.846T>C (p.Tyr282=)	Mosaic variegated aneuploidy syndrome 2 [RCV001211713]	uncertain significance	11	95822537	95822537	Human	1	trait
38472039	CV935868	single nucleotide variant	NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001203012]	uncertain significance	11	95827921	95827921	Human	1	trait
38467619	CV935872	single nucleotide variant	NM_014679.5(CEP57):c.1122G>T (p.Met374Ile)	Mosaic variegated aneuploidy syndrome 2 [RCV001212986]	uncertain significance	11	95828022	95828022	Human	1	trait
38484416	CV935873	single nucleotide variant	NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser)	Mosaic variegated aneuploidy syndrome 2 [RCV001208038]	uncertain significance	11	95829306	95829306	Human	1	trait
38484806	CV935874	duplication	NM_014679.5(CEP57):c.1286dup (p.Leu430fs)	Mosaic variegated aneuploidy syndrome 2 [RCV001208203]	uncertain significance	11	95831037	95831038	Human	1	trait
38484677	CV936902	single nucleotide variant	NM_001211.6(BUB1B):c.212G>A (p.Gly71Glu)	Mosaic variegated aneuploidy syndrome 1 [RCV002240981]	uncertain significance	15	40170094	40170094	Human	1	trait
38468503	CV936903	single nucleotide variant	NM_001211.6(BUB1B):c.466A>G (p.Ile156Val)	Mosaic variegated aneuploidy syndrome 1 [RCV001213151]	uncertain significance	15	40176558	40176558	Human	1	trait
38486921	CV936904	single nucleotide variant	NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001209103]	pathogenic\|likely pathogenic	15	40183727	40183727	Human	1	trait
38473697	CV936912	single nucleotide variant	NM_001211.6(BUB1B):c.2294A>G (p.Asp765Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV002240845]	uncertain significance	15	40210119	40210119	Human	1	trait
38465942	CV940326	single nucleotide variant	NM_001211.6(BUB1B):c.2536-8A>G	Mosaic variegated aneuploidy syndrome 1 [RCV002241102]	uncertain significance	15	40213324	40213324	Human	1	trait
38492237	CV941084	single nucleotide variant	NM_001211.6(BUB1B):c.240-9C>A	Mosaic variegated aneuploidy syndrome 1 [RCV002241305]	likely benign\|uncertain significance	15	40170528	40170528	Human	1	trait
38493951	CV941085	single nucleotide variant	NM_001211.6(BUB1B):c.2144-5G>A	Mosaic variegated aneuploidy syndrome 1 [RCV001224628]	uncertain significance	15	40209630	40209630	Human	1	trait
38480928	CV947739	single nucleotide variant	NM_014679.5(CEP57):c.504A>G (p.Gln168=)	Mosaic variegated aneuploidy syndrome 2 [RCV001234904]	uncertain significance	11	95813589	95813589	Human	1	trait
38496301	CV947741	single nucleotide variant	NM_014679.5(CEP57):c.626A>C (p.Lys209Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001226300]	uncertain significance	11	95818831	95818831	Human	1	trait
38460828	CV947742	single nucleotide variant	NM_014679.5(CEP57):c.680T>C (p.Met227Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001229421]	uncertain significance	11	95818885	95818885	Human	1	trait
38473869	CV947744	single nucleotide variant	NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro)	Mosaic variegated aneuploidy syndrome 2 [RCV001231981]	uncertain significance	11	95827945	95827945	Human	1	trait
38484710	CV948859	single nucleotide variant	NM_001211.6(BUB1B):c.256G>A (p.Glu86Lys)	Mosaic variegated aneuploidy syndrome 1 [RCV001236478]	uncertain significance	15	40170553	40170553	Human	1	trait
38461027	CV948862	single nucleotide variant	NM_001211.6(BUB1B):c.1873A>G (p.Ile625Val)	Mosaic variegated aneuploidy syndrome 1 [RCV002241587]	uncertain significance	15	40206322	40206322	Human	1	trait
38476094	CV948863	single nucleotide variant	NM_001211.6(BUB1B):c.1988C>T (p.Thr663Ile)	Mosaic variegated aneuploidy syndrome 1 [RCV002241601]	uncertain significance	15	40206437	40206437	Human	1	trait
38474874	CV948866	single nucleotide variant	NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter)	Mosaic variegated aneuploidy syndrome 1 [RCV001232377]	pathogenic	15	40212591	40212591	Human	1	trait
38474174	CV948867	deletion	NM_001211.6(BUB1B):c.2566del (p.His856fs)	Mosaic variegated aneuploidy syndrome 1 [RCV001232097]	pathogenic	15	40213360	40213360	Human	1	trait
38495061	CV957404	single nucleotide variant	NM_001211.6(BUB1B):c.2142A>G (p.Ser714=)	Mosaic variegated aneuploidy syndrome 1 [RCV002241531]	uncertain significance	15	40208769	40208769	Human	1	trait
38463339	CV960107	single nucleotide variant	NM_001211.6(BUB1B):c.35+4G>A	Mosaic variegated aneuploidy syndrome 1 [RCV002241440]	uncertain significance	15	40161259	40161259	Human	1	trait
39456636	CV965927	single nucleotide variant	NM_014679.5(CEP57):c.382+2T>C	Mosaic variegated aneuploidy syndrome 2 [RCV001255701]	pathogenic	11	95813113	95813113	Human	1	trait
42722788	CV985289	single nucleotide variant	NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001292716]	uncertain significance	11	95831110	95831110	Human	1	trait
126754850	CV994848	single nucleotide variant	NM_014679.5(CEP57):c.217C>T (p.Leu73Phe)	Mosaic variegated aneuploidy syndrome 2 [RCV001307725]	uncertain significance	11	95812946	95812946	Human	1	trait
126760121	CV994849	single nucleotide variant	NM_014679.5(CEP57):c.263T>C (p.Ile88Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001299701]	uncertain significance	11	95812992	95812992	Human	1	trait
126767505	CV994851	single nucleotide variant	NM_014679.5(CEP57):c.550A>G (p.Ser184Gly)	Mosaic variegated aneuploidy syndrome 2 [RCV001302308]	uncertain significance	11	95817832	95817832	Human	1	trait
126755959	CV994852	single nucleotide variant	NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001307987]	uncertain significance	11	95827928	95827928	Human	1	trait
126758437	CV994854	single nucleotide variant	NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr)	Mosaic variegated aneuploidy syndrome 2 [RCV001308719]	uncertain significance	11	95829266	95829266	Human	1	trait
126741755	CV994855	single nucleotide variant	NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001305457]	uncertain significance	11	95829279	95829279	Human	1	trait
126755433	CV994856	single nucleotide variant	NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys)	Mosaic variegated aneuploidy syndrome 2 [RCV001307858]	uncertain significance	11	95831206	95831206	Human	1	trait
126728838	CV996225	single nucleotide variant	NM_001211.6(BUB1B):c.838G>C (p.Asp280His)	Mosaic variegated aneuploidy syndrome 1 [RCV002241825]	uncertain significance	15	40185251	40185251	Human	1	trait
126757798	CV996230	single nucleotide variant	NM_001211.6(BUB1B):c.1652T>G (p.Val551Gly)	Mosaic variegated aneuploidy syndrome 1 [RCV002241728]	uncertain significance	15	40202612	40202612	Human	1	trait
126757301	CV996231	single nucleotide variant	NM_001211.6(BUB1B):c.1685A>G (p.Lys562Arg)	Mosaic variegated aneuploidy syndrome 1 [RCV002241890]	uncertain significance	15	40202645	40202645	Human	1	trait
126751440	CV996234	single nucleotide variant	NM_001211.6(BUB1B):c.2285-3C>A	Mosaic variegated aneuploidy syndrome 1 [RCV002242046]	uncertain significance	15	40210107	40210107	Human	1	trait

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