ClinVar for MedGen (Select 338026) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25765711.	NM_001013836.2(MAD1L1):c.1396C>T (p.Gln466Ter) GRCh37: Chr7:2041720 GRCh38: Chr7:2002085	MAD1L1	Q374, Q466	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 25765702.	NM_001013836.2(MAD1L1):c.820_823del (p.Glu274fs) GRCh37: Chr7:2255621-2255624 GRCh38: Chr7:2215986-2215989	MAD1L1	E182fs, E274fs	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 25035113.	NM_001211.6(BUB1B):c.1401G>T (p.Gln467His) GRCh37: Chr15:40491928 GRCh38: Chr15:40199727	BUB1B	Q467H	Mosaic variegated aneuploidy syndrome 1	Likely pathogenic (Mar 15, 2023)	criteria provided, single submitter
Select item 24317404.	NM_001211.6(BUB1B):c.1372del (p.Thr458fs) GRCh37: Chr15:40491897 GRCh38: Chr15:40199696	BUB1B	T458fs	Mosaic variegated aneuploidy syndrome 1	Likely pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 24249745.	NM_001211.6(BUB1B):c.2156A>T (p.Gln719Leu) GRCh37: Chr15:40501848 GRCh38: Chr15:40209647	BUB1B	Q719L	Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Uncertain significance (Jul 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24239766.	NC_000015.9:g.(?_40453422)_(40457417_?)del GRCh37: Chr15:40453422-40457417	BUB1B		Mosaic variegated aneuploidy syndrome 1	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 24195987.	NM_001211.6(BUB1B):c.2143+4G>C GRCh37: Chr15:40500975 GRCh38: Chr15:40208774	BUB1B		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 24153058.	NM_001211.6(BUB1B):c.2511A>T (p.Gln837His) GRCh37: Chr15:40504825 GRCh38: Chr15:40212624	BUB1B	Q837H	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 24139089.	NM_001211.6(BUB1B):c.967-3C>T GRCh37: Chr15:40477749 GRCh38: Chr15:40185548	BUB1B		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 220242410.	NM_001211.6(BUB1B):c.2153del (p.Thr718fs) GRCh37: Chr15:40501845 GRCh38: Chr15:40209644	BUB1B	T718fs	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 219940311.	NM_001211.6(BUB1B):c.1058+17G>A GRCh37: Chr15:40477860 GRCh38: Chr15:40185659	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 219919412.	NM_001211.6(BUB1B):c.1628+8G>A GRCh37: Chr15:40494674 GRCh38: Chr15:40202473	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 219835613.	NM_001211.6(BUB1B):c.180-15C>T GRCh37: Chr15:40462248 GRCh38: Chr15:40170047	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219664514.	NM_001211.6(BUB1B):c.1743del (p.Phe581fs) GRCh37: Chr15:40498391 GRCh38: Chr15:40206190	BUB1B	F581fs	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 219402015.	NM_001211.6(BUB1B):c.2284+8C>A GRCh37: Chr15:40501984 GRCh38: Chr15:40209783	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 219138816.	NM_001211.6(BUB1B):c.2678+13C>G GRCh37: Chr15:40505688 GRCh38: Chr15:40213487	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 218769117.	NM_001211.6(BUB1B):c.1378C>T (p.Gln460Ter) GRCh37: Chr15:40491905 GRCh38: Chr15:40199704	BUB1B	Q460*	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 218730718.	NM_001211.6(BUB1B):c.1288+18T>G GRCh37: Chr15:40488993 GRCh38: Chr15:40196792	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 217979619.	NM_001211.6(BUB1B):c.2238A>G (p.Glu746=) GRCh37: Chr15:40501930 GRCh38: Chr15:40209729	BUB1B		Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Jul 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217978420.	NM_001211.6(BUB1B):c.2820G>A (p.Lys940=) GRCh37: Chr15:40509838 GRCh38: Chr15:40217637	BUB1B, BUB1B-PAK6		Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Jul 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217535321.	NM_001211.6(BUB1B):c.2386-10T>C GRCh37: Chr15:40504690 GRCh38: Chr15:40212489	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217491322.	NM_001211.6(BUB1B):c.2415T>G (p.Phe805Leu) GRCh37: Chr15:40504729 GRCh38: Chr15:40212528	BUB1B	F805L	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 217355023.	NM_001211.6(BUB1B):c.1059-3T>C GRCh37: Chr15:40488743 GRCh38: Chr15:40196542	BUB1B		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 217084524.	NM_001211.6(BUB1B):c.2285-2A>G GRCh37: Chr15:40502309 GRCh38: Chr15:40210108	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 216362225.	NM_001211.6(BUB1B):c.2144-14C>G GRCh37: Chr15:40501822 GRCh38: Chr15:40209621	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 215836526.	NM_001211.6(BUB1B):c.2829T>C (p.Ala943=) GRCh37: Chr15:40509847 GRCh38: Chr15:40217646	BUB1B, BUB1B-PAK6		Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 215595727.	NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn) GRCh37: Chr15:40509699 GRCh38: Chr15:40217498	BUB1B, BUB1B-PAK6	I894N	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215515728.	NM_001211.6(BUB1B):c.2284+13G>A GRCh37: Chr15:40501989 GRCh38: Chr15:40209788	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 215328129.	NM_001211.6(BUB1B):c.581+18C>T GRCh37: Chr15:40468892 GRCh38: Chr15:40176691	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 215281230.	NM_001211.6(BUB1B):c.871del (p.Thr291fs) GRCh37: Chr15:40477485 GRCh38: Chr15:40185284	BUB1B	T291fs	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 215091131.	NM_001211.6(BUB1B):c.2430G>C (p.Lys810Asn) GRCh37: Chr15:40504744 GRCh38: Chr15:40212543	BUB1B	K810N	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 214819232.	NM_001211.6(BUB1B):c.385-19G>A GRCh37: Chr15:40468659 GRCh38: Chr15:40176458	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 214807933.	NM_001211.6(BUB1B):c.1401+20A>G GRCh37: Chr15:40491948 GRCh38: Chr15:40199747	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 214710134.	NM_001211.6(BUB1B):c.1346T>C (p.Met449Thr) GRCh37: Chr15:40491873 GRCh38: Chr15:40199672	BUB1B	M449T	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 214626035.	NM_001211.6(BUB1B):c.384+13C>T GRCh37: Chr15:40462895 GRCh38: Chr15:40170694	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 214504436.	NM_001211.6(BUB1B):c.1637C>T (p.Ala546Val) GRCh37: Chr15:40494798 GRCh38: Chr15:40202597	BUB1B	A546V	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214486737.	NM_001211.6(BUB1B):c.1400A>G (p.Gln467Arg) GRCh37: Chr15:40491927 GRCh38: Chr15:40199726	BUB1B	Q467R	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 214484438.	NM_001211.6(BUB1B):c.2511A>G (p.Gln837=) GRCh37: Chr15:40504825 GRCh38: Chr15:40212624	BUB1B		Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Jul 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214351139.	NM_001211.6(BUB1B):c.1628+18T>G GRCh37: Chr15:40494684 GRCh38: Chr15:40202483	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 214326540.	NM_001211.6(BUB1B):c.240-13dup GRCh37: Chr15:40462720-40462721 GRCh38: Chr15:40170519-40170520	BUB1B		Mosaic variegated aneuploidy syndrome 1	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 214173641.	NM_001211.6(BUB1B):c.1663C>T (p.Arg555Ter) GRCh37: Chr15:40494824 GRCh38: Chr15:40202623	BUB1B	R555*	Mosaic variegated aneuploidy syndrome 1	Pathogenic (May 16, 2022)	criteria provided, single submitter
Select item 213704342.	NM_001211.6(BUB1B):c.854C>A (p.Ala285Glu) GRCh37: Chr15:40477468 GRCh38: Chr15:40185267	BUB1B	A285E	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 213697443.	NM_001211.6(BUB1B):c.1602T>G (p.Phe534Leu) GRCh37: Chr15:40494640 GRCh38: Chr15:40202439	BUB1B	F534L	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213487344.	NM_001211.6(BUB1B):c.2617C>T (p.Leu873=) GRCh37: Chr15:40505614 GRCh38: Chr15:40213413	BUB1B		Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213395245.	NM_001211.6(BUB1B):c.99G>A (p.Arg33=) GRCh37: Chr15:40457317 GRCh38: Chr15:40165116	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213022946.	NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu) GRCh37: Chr15:40512914 GRCh38: Chr15:40220713	BUB1B-PAK6, BUB1B	W1036L	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212425647.	NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr) GRCh37: Chr15:40510708 GRCh38: Chr15:40218507	BUB1B-PAK6, BUB1B	H968Y	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 210752348.	NM_001211.6(BUB1B):c.22G>T (p.Gly8Trp) GRCh37: Chr15:40453443 GRCh38: Chr15:40161242	BUB1B, LOC130056830	G8W	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 208634949.	NM_001211.6(BUB1B):c.289A>G (p.Asn97Asp) GRCh37: Chr15:40462787 GRCh38: Chr15:40170586	BUB1B	N97D	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 208353850.	NM_001211.6(BUB1B):c.36-1G>A GRCh37: Chr15:40457253 GRCh38: Chr15:40165052	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 207950951.	NM_001211.6(BUB1B):c.1179A>G (p.Lys393=) GRCh37: Chr15:40488866 GRCh38: Chr15:40196665	BUB1B		Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Likely benign (Aug 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207835252.	NM_001211.6(BUB1B):c.2257T>C (p.Leu753=) GRCh37: Chr15:40501949 GRCh38: Chr15:40209748	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 207602253.	NM_001211.6(BUB1B):c.270T>G (p.Pro90=) GRCh37: Chr15:40462768 GRCh38: Chr15:40170567	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 206919654.	NM_001211.6(BUB1B):c.2549A>G (p.His850Arg) GRCh37: Chr15:40505546 GRCh38: Chr15:40213345	BUB1B	H850R	Mosaic variegated aneuploidy syndrome 1, not provided	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206293455.	NM_001211.6(BUB1B):c.2231G>A (p.Cys744Tyr) GRCh37: Chr15:40501923 GRCh38: Chr15:40209722	BUB1B	C744Y	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 205882256.	NM_001211.6(BUB1B):c.583C>G (p.Gln195Glu) GRCh37: Chr15:40475916 GRCh38: Chr15:40183715	BUB1B	Q195E	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jan 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 205652057.	NM_001211.6(BUB1B):c.639GGA[1] (p.Glu215del) GRCh37: Chr15:40475970-40475972 GRCh38: Chr15:40183769-40183771	BUB1B	E215del	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 205034358.	NM_001211.6(BUB1B):c.966+20G>T GRCh37: Chr15:40477600 GRCh38: Chr15:40185399	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 204823259.	NM_001211.6(BUB1B):c.184T>C (p.Phe62Leu) GRCh37: Chr15:40462267 GRCh38: Chr15:40170066	BUB1B	F62L	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jan 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204800160.	NM_001211.6(BUB1B):c.1638A>G (p.Ala546=) GRCh37: Chr15:40494799 GRCh38: Chr15:40202598	BUB1B		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 203817461.	NM_001211.6(BUB1B):c.2144-2dup GRCh37: Chr15:40501833-40501834 GRCh38: Chr15:40209632-40209633	BUB1B		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 203801162.	NM_001211.6(BUB1B):c.2957+19C>T GRCh37: Chr15:40510782 GRCh38: Chr15:40218581	BUB1B-PAK6, BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 203483563.	NM_001211.6(BUB1B):c.1141del (p.Arg381fs) GRCh37: Chr15:40488826 GRCh38: Chr15:40196625	BUB1B	R381fs	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 203271064.	NM_001211.6(BUB1B):c.1734+9C>T GRCh37: Chr15:40494904 GRCh38: Chr15:40202703	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 202226465.	NM_001211.6(BUB1B):c.1735-20T>A GRCh37: Chr15:40498365 GRCh38: Chr15:40206164	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 201199666.	NM_001211.6(BUB1B):c.2447A>T (p.Asn816Ile) GRCh37: Chr15:40504761 GRCh38: Chr15:40212560	BUB1B	N816I	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 200374367.	NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val) GRCh37: Chr15:40509846 GRCh38: Chr15:40217645	BUB1B-PAK6, BUB1B	A943V	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 200295168.	NM_001211.6(BUB1B):c.1628+11T>C GRCh37: Chr15:40494677 GRCh38: Chr15:40202476	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 199813869.	NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala) GRCh37: Chr15:40509755 GRCh38: Chr15:40217554	BUB1B-PAK6, BUB1B	S913A	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 199784870.	NM_001211.6(BUB1B):c.1517+20del GRCh37: Chr15:40492579 GRCh38: Chr15:40200378	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 199764471.	NM_001211.6(BUB1B):c.2851-5T>C GRCh37: Chr15:40510652 GRCh38: Chr15:40218451	BUB1B-PAK6, BUB1B		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 199540972.	NM_001211.6(BUB1B):c.882A>G (p.Pro294=) GRCh37: Chr15:40477496 GRCh38: Chr15:40185295	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 199342673.	NM_001211.6(BUB1B):c.1310A>G (p.Glu437Gly) GRCh37: Chr15:40491837 GRCh38: Chr15:40199636	BUB1B	E437G	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 198978174.	NM_001211.6(BUB1B):c.1058+7G>A GRCh37: Chr15:40477850 GRCh38: Chr15:40185649	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 198789375.	NM_001211.6(BUB1B):c.1774A>G (p.Ile592Val) GRCh37: Chr15:40498424 GRCh38: Chr15:40206223	BUB1B	I592V	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 198179976.	NM_001211.6(BUB1B):c.2958-13T>A GRCh37: Chr15:40512752 GRCh38: Chr15:40220551	BUB1B-PAK6, BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 198034777.	NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter) GRCh37: Chr15:40509866 GRCh38: Chr15:40217665	BUB1B, BUB1B-PAK6	Q950*	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Jun 19, 2022)	criteria provided, single submitter
Select item 197402578.	NM_001211.6(BUB1B):c.714A>C (p.Ala238=) GRCh37: Chr15:40476047 GRCh38: Chr15:40183846	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 196667479.	NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn) GRCh37: Chr15:40509838 GRCh38: Chr15:40217637	BUB1B-PAK6, BUB1B	K940N	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 194644980.	NM_001211.6(BUB1B):c.310del (p.Arg104fs) GRCh37: Chr15:40462806 GRCh38: Chr15:40170605	BUB1B	R104fs	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 194640281.	NM_001211.6(BUB1B):c.299C>T (p.Thr100Met) GRCh37: Chr15:40462797 GRCh38: Chr15:40170596	BUB1B	T100M	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 194192882.	NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg) GRCh37: Chr15:40512956 GRCh38: Chr15:40220755	BUB1B-PAK6, BUB1B	Q1050R	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 193731583.	NM_001211.6(BUB1B):c.2352G>T (p.Ala784=) GRCh37: Chr15:40502378 GRCh38: Chr15:40210177	BUB1B		Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Likely benign (Nov 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193573284.	NM_001211.6(BUB1B):c.1058+16G>C GRCh37: Chr15:40477859 GRCh38: Chr15:40185658	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 193172485.	NM_001211.6(BUB1B):c.1518-5T>C GRCh37: Chr15:40493127 GRCh38: Chr15:40200926	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 193148286.	NM_001211.6(BUB1B):c.1664G>C (p.Arg555Pro) GRCh37: Chr15:40494825 GRCh38: Chr15:40202624	BUB1B	R555P	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192964587.	NM_001211.6(BUB1B):c.967-8A>G GRCh37: Chr15:40477744 GRCh38: Chr15:40185543	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 191062588.	NM_001211.6(BUB1B):c.1568-12C>G GRCh37: Chr15:40494594 GRCh38: Chr15:40202393	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 190908689.	NM_001211.6(BUB1B):c.2010-16T>C GRCh37: Chr15:40500822 GRCh38: Chr15:40208621	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 189877690.	NM_001211.6(BUB1B):c.32T>G (p.Leu11Arg) GRCh37: Chr15:40453453 GRCh38: Chr15:40161252	BUB1B, LOC130056830	L11R	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 180598691.	NM_001211.6(BUB1B):c.1375A>C (p.Thr459Pro) GRCh37: Chr15:40491902 GRCh38: Chr15:40199701	BUB1B	T459P	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 179938992.	NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala) GRCh37: Chr15:40512869 GRCh38: Chr15:40220668	BUB1B-PAK6, BUB1B	G1021A	Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179885193.	NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu) GRCh37: Chr15:40512822 GRCh38: Chr15:40220621	BUB1B, BUB1B-PAK6	D1005E	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 179882894.	NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His) GRCh37: Chr15:40512820 GRCh38: Chr15:40220619	BUB1B, BUB1B-PAK6	D1005H	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179879395.	NM_001211.6(BUB1B):c.300G>A (p.Thr100=) GRCh37: Chr15:40462798 GRCh38: Chr15:40170597	BUB1B		Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179847096.	NM_001211.6(BUB1B):c.2988C>T (p.Phe996=) GRCh37: Chr15:40512795 GRCh38: Chr15:40220594	BUB1B, BUB1B-PAK6		Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Likely benign (Jun 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179782297.	NM_001211.6(BUB1B):c.2931C>T (p.Phe977=) GRCh37: Chr15:40510737 GRCh38: Chr15:40218536	BUB1B, BUB1B-PAK6		Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179644798.	NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn) GRCh37: Chr15:40509838 GRCh38: Chr15:40217637	BUB1B-PAK6, BUB1B	K940N	Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Uncertain significance (Feb 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179500699.	NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser) GRCh37: Chr15:40509726 GRCh38: Chr15:40217525	BUB1B-PAK6, BUB1B	N903S	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1794954100.	NM_001211.6(BUB1B):c.2703C>T (p.Asn901=) GRCh37: Chr15:40509721 GRCh38: Chr15:40217520	BUB1B-PAK6, BUB1B		Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts

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