701[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 1529

<< First< Prev

Page of 16

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 578771.	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 GRCh37: Chr15:32928004-40526026 GRCh38: Chr15:32635803-40233825	ACTC1, AQR, ARHGAP11A, ARHGAP11A-SCG5, AVEN, BMF, BUB1B, BUB1B-PAK6, CDIN1, CHRM5, DPH6, DPH6-DT, EIF2AK4, EMC4, EMC7, FAM98B, FMN1, FSIP1, GJD2, GJD2-DT, GOLGA8A, GOLGA8B, GPR176, GPR176-DT, GREM1, GREM1-AS1, KATNBL1, LINC01852, LINC02252, LINC02345, LINC02694, LINC02853, LINC02915, LOC105370764, LOC105370781, LOC105370783, LOC105370787, LOC105370941, LOC108004527, LOC108353818, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121409, LOC112272583, LOC112272584, LOC113939943, LOC121530575, LOC121530576, LOC121530577, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC125078061, LOC125078062, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC126862106, LOC126862107, LOC126862108, LOC126862109, LOC126862110, LOC126862111, LOC129390682, LOC129390683, LOC129390684, LOC129390685, LOC129390686, LOC129390687, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC130056782, LOC130056783, LOC130056784, LOC130056785, LOC130056786, LOC130056787, LOC130056788, LOC130056789, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, LOC130056807, LOC130056808, LOC130056809, LOC130056810, LOC130056811, LOC130056812, LOC130056813, LOC130056814, LOC130056815, LOC130056816, LOC130056817, LOC130056818, LOC130056819, LOC130056820, LOC130056821, LOC130056822, LOC130056823, LOC130056824, LOC130056825, LOC130056826, LOC130056827, LOC130056828, LOC130056829, LOC130056830, LOC130056831, LOC132090300, LOC132090301, LOC132090302, LOC145845, LPCAT4, MEIS2, MIR1233-1, MIR1233-2, MIR3942, MIR4510, MIR8063, NANOGP8, NOP10, NUTM1, PGBD4, RASGRP1, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SPRED1, SRP14, SRP14-DT, THBS1, THBS1-IT1, TMCO5A, ZNF770		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 583522.	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3 GRCh37: Chr15:40003136-40586792 GRCh38: Chr15:39710935-40294591	ANKRD63, BMF, BUB1B, BUB1B-PAK6, EIF2AK4, FSIP1, GPR176, GPR176-DT, LOC105370787, LOC105370941, LOC110121409, LOC112272584, LOC125078062, LOC125078063, LOC129390686, LOC129390687, LOC130056809, LOC130056810, LOC130056811, LOC130056812, LOC130056813, LOC130056814, LOC130056815, LOC130056816, LOC130056817, LOC130056818, LOC130056819, LOC130056820, LOC130056821, LOC130056822, LOC130056823, LOC130056824, LOC130056825, LOC130056826, LOC130056827, LOC130056828, LOC130056829, LOC130056830, LOC130056831, LOC130056832, LOC130056833, LOC130056834, LOC130056835, LOC130056836, PAK6, PAK6-AS1, PLCB2, SRP14, SRP14-DT		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 12659453.	NC_000015.10:g.40160761A>C GRCh37: Chr15:40452962 GRCh38: Chr15:40160761	BUB1B		not provided	Benign (Apr 24, 2019)	criteria provided, single submitter
Select item 12224804.	NC_000015.10:g.40160857G>T GRCh37: Chr15:40453058 GRCh38: Chr15:40160857	BUB1B		not provided	Benign (Apr 24, 2019)	criteria provided, single submitter
Select item 12891875.	NC_000015.10:g.40160874G>A GRCh37: Chr15:40453075 GRCh38: Chr15:40160874	BUB1B		not provided	Benign (Jan 10, 2019)	criteria provided, single submitter
Select item 12969576.	NC_000015.10:g.40160927C>T GRCh37: Chr15:40453128 GRCh38: Chr15:40160927	BUB1B		not provided	Benign (May 20, 2019)	criteria provided, single submitter
Select item 12514697.	NC_000015.10:g.40160954A>G GRCh37: Chr15:40453155 GRCh38: Chr15:40160954	BUB1B		not provided	Benign (Apr 24, 2019)	criteria provided, single submitter
Select item 12940178.	NM_001211.6(BUB1B):c.-115A>G GRCh37: Chr15:40453307 GRCh38: Chr15:40161106	BUB1B		not provided	Benign (Jan 10, 2019)	criteria provided, single submitter
Select item 12117749.	NM_001211.6(BUB1B):c.-42A>G GRCh37: Chr15:40453380 GRCh38: Chr15:40161179	BUB1B		not provided	Likely benign (Feb 24, 2019)	criteria provided, single submitter
Select item 58374310.	NC_000015.9:g.(?_40453416)_(40512966_?)dup GRCh37: Chr15:40453416-40512966 GRCh38: Chr15:40161215-40220765	BUB1B, BUB1B-PAK6, LOC129390686, LOC130056830, LOC130056831		Mosaic variegated aneuploidy syndrome	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 104256411.	NM_001211.6(BUB1B):c.2dup (p.Met1fs) GRCh37: Chr15:40453422-40453423 GRCh38: Chr15:40161221-40161222	BUB1B, LOC130056830	M1fs	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 175661812.	NM_001211.6(BUB1B):c.6G>C (p.Ala2=) GRCh37: Chr15:40453427 GRCh38: Chr15:40161226	BUB1B, LOC130056830		Inborn genetic diseases	Likely benign (Nov 9, 2020)	criteria provided, single submitter
Select item 175661213.	NM_001211.6(BUB1B):c.6G>A (p.Ala2=) GRCh37: Chr15:40453427 GRCh38: Chr15:40161226	BUB1B, LOC130056830		Inborn genetic diseases	Likely benign (Oct 28, 2021)	criteria provided, single submitter
Select item 176159914.	NM_001211.6(BUB1B):c.7G>A (p.Ala3Thr) GRCh37: Chr15:40453428 GRCh38: Chr15:40161227	BUB1B, LOC130056830	A3T	Inborn genetic diseases	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 176542015.	NM_001211.6(BUB1B):c.8C>T (p.Ala3Val) GRCh37: Chr15:40453429 GRCh38: Chr15:40161228	LOC130056830, BUB1B	A3V	Inborn genetic diseases	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 176893116.	NM_001211.6(BUB1B):c.9G>A (p.Ala3=) GRCh37: Chr15:40453430 GRCh38: Chr15:40161229	BUB1B, LOC130056830		Inborn genetic diseases	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 25764017.	NM_001211.6(BUB1B):c.9G>T (p.Ala3=) GRCh37: Chr15:40453430 GRCh38: Chr15:40161229	BUB1B, LOC130056830		Colorectal cancer, not specified, not provided, Mosaic variegated aneuploidy syndrome 1	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13376418.	NM_001211.6(BUB1B):c.10G>A (p.Val4Met) GRCh37: Chr15:40453431 GRCh38: Chr15:40161230	BUB1B, LOC130056830	V4M	Inborn genetic diseases, not specified, Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69987219.	NM_001211.6(BUB1B):c.15G>A (p.Lys5=) GRCh37: Chr15:40453436 GRCh38: Chr15:40161235	BUB1B, LOC130056830		not provided, Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178228120.	NM_001211.6(BUB1B):c.18G>A (p.Lys6=) GRCh37: Chr15:40453439 GRCh38: Chr15:40161238	LOC130056830, BUB1B		Inborn genetic diseases	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 53391521.	NM_001211.6(BUB1B):c.19G>A (p.Glu7Lys) GRCh37: Chr15:40453440 GRCh38: Chr15:40161239	BUB1B, LOC130056830	E7K	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 178757622.	NM_001211.6(BUB1B):c.21A>G (p.Glu7=) GRCh37: Chr15:40453442 GRCh38: Chr15:40161241	BUB1B, LOC130056830		Inborn genetic diseases	Likely benign (Jan 16, 2021)	criteria provided, single submitter
Select item 142896023.	NM_001211.6(BUB1B):c.21A>C (p.Glu7Asp) GRCh37: Chr15:40453442 GRCh38: Chr15:40161241	BUB1B, LOC130056830	E7D	Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Uncertain significance (Oct 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 210752324.	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 179071825.	NM_001211.6(BUB1B):c.23G>T (p.Gly8Val) GRCh37: Chr15:40453444 GRCh38: Chr15:40161243	BUB1B, LOC130056830	G8V	Inborn genetic diseases	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 101933026.	NM_001211.6(BUB1B):c.23G>C (p.Gly8Ala) GRCh37: Chr15:40453444 GRCh38: Chr15:40161243	BUB1B, LOC130056830	G8A	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179222327.	NM_001211.6(BUB1B):c.24G>A (p.Gly8=) GRCh37: Chr15:40453445 GRCh38: Chr15:40161244	BUB1B, LOC130056830		Inborn genetic diseases	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 140110828.	NM_001211.6(BUB1B):c.26G>T (p.Gly9Val) GRCh37: Chr15:40453447 GRCh38: Chr15:40161246	BUB1B, LOC130056830	G9V	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 57598329.	NM_001211.6(BUB1B):c.26G>C (p.Gly9Ala) GRCh37: Chr15:40453447 GRCh38: Chr15:40161246	BUB1B, LOC130056830	G9A	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 179620630.	NM_001211.6(BUB1B):c.27T>A (p.Gly9=) GRCh37: Chr15:40453448 GRCh38: Chr15:40161247	BUB1B, LOC130056830		Inborn genetic diseases	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 189877631.	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 230762032.	NM_001211.6(BUB1B):c.35+4G>T GRCh37: Chr15:40453460 GRCh38: Chr15:40161259	BUB1B, LOC130056830		Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 95694133.	NM_001211.6(BUB1B):c.35+4G>A GRCh37: Chr15:40453460 GRCh38: Chr15:40161259	BUB1B, LOC130056830		Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 77031734.	NM_001211.6(BUB1B):c.35+9G>A GRCh37: Chr15:40453465 GRCh38: Chr15:40161264	BUB1B, LOC130056830		Mosaic variegated aneuploidy syndrome 1	Likely benign (Nov 10, 2020)	criteria provided, single submitter
Select item 124249335.	NM_001211.6(BUB1B):c.35+41G>A GRCh37: Chr15:40453497 GRCh38: Chr15:40161296	BUB1B, LOC130056830		not provided	Benign (Jan 10, 2019)	criteria provided, single submitter
Select item 117773936.	NM_001211.6(BUB1B):c.36-212A>C GRCh37: Chr15:40457042 GRCh38: Chr15:40164841	BUB1B		not provided	Benign (Feb 11, 2019)	criteria provided, single submitter
Select item 126772237.	NM_001211.6(BUB1B):c.36-125A>C GRCh37: Chr15:40457129 GRCh38: Chr15:40164928	BUB1B		not provided	Benign (Jan 10, 2019)	criteria provided, single submitter
Select item 25763938.	NM_001211.6(BUB1B):c.36-13dup GRCh37: Chr15:40457238-40457239 GRCh38: Chr15:40165037-40165038	BUB1B		Mosaic variegated aneuploidy syndrome 1, not specified, not provided	Benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154769439.	NM_001211.6(BUB1B):c.36-14_36-13insG GRCh37: Chr15:40457240-40457241 GRCh38: Chr15:40165039-40165040	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 161939640.	NM_001211.6(BUB1B):c.36-8C>T GRCh37: Chr15:40457246 GRCh38: Chr15:40165045	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 208353841.	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 173953042.	NM_001211.6(BUB1B):c.42C>T (p.Ala14=) GRCh37: Chr15:40457260 GRCh38: Chr15:40165059	BUB1B		Inborn genetic diseases	Likely benign (May 8, 2021)	criteria provided, single submitter
Select item 96911843.	NM_001211.6(BUB1B):c.44T>C (p.Met15Thr) GRCh37: Chr15:40457262 GRCh38: Chr15:40165061	BUB1B	M15T	Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Uncertain significance (Aug 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 174180144.	NM_001211.6(BUB1B):c.45G>C (p.Met15Ile) GRCh37: Chr15:40457263 GRCh38: Chr15:40165062	BUB1B	M15I	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174317645.	NM_001211.6(BUB1B):c.47C>G (p.Ser16Cys) GRCh37: Chr15:40457265 GRCh38: Chr15:40165064	BUB1B	S16C	Inborn genetic diseases	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 86117446.	NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe) GRCh37: Chr15:40457265 GRCh38: Chr15:40165064	BUB1B	S16F	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Mar 7, 2022)	criteria provided, single submitter
Select item 174394947.	NM_001211.6(BUB1B):c.48C>T (p.Ser16=) GRCh37: Chr15:40457266 GRCh38: Chr15:40165065	BUB1B		Inborn genetic diseases	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 174795448.	NM_001211.6(BUB1B):c.54G>A (p.Glu18=) GRCh37: Chr15:40457272 GRCh38: Chr15:40165071	BUB1B		Inborn genetic diseases	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 103699549.	NM_001211.6(BUB1B):c.54G>C (p.Glu18Asp) GRCh37: Chr15:40457272 GRCh38: Chr15:40165071	BUB1B	E18D	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114190750.	NM_001211.6(BUB1B):c.60T>C (p.Asp20=) GRCh37: Chr15:40457278 GRCh38: Chr15:40165077	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Aug 8, 2019)	criteria provided, single submitter
Select item 246245451.	NM_001211.6(BUB1B):c.61G>A (p.Glu21Lys) GRCh37: Chr15:40457279 GRCh38: Chr15:40165078	BUB1B	E21K	Inborn genetic diseases	Uncertain significance (Dec 26, 2022)	criteria provided, single submitter
Select item 175604752.	NM_001211.6(BUB1B):c.68A>T (p.Glu23Val) GRCh37: Chr15:40457286 GRCh38: Chr15:40165085	BUB1B	E23V	Inborn genetic diseases	Uncertain significance (Oct 15, 2022)	criteria provided, single submitter
Select item 175654953.	NM_001211.6(BUB1B):c.69A>T (p.Glu23Asp) GRCh37: Chr15:40457287 GRCh38: Chr15:40165086	BUB1B	E23D	Inborn genetic diseases	Uncertain significance (Sep 30, 2021)	criteria provided, single submitter
Select item 175975254.	NM_001211.6(BUB1B):c.75T>C (p.Ser25=) GRCh37: Chr15:40457293 GRCh38: Chr15:40165092	BUB1B		Inborn genetic diseases	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 258593155.	NM_001211.6(BUB1B):c.77A>T (p.Lys26Ile) GRCh37: Chr15:40457295 GRCh38: Chr15:40165094	BUB1B	K26I	Inborn genetic diseases	Uncertain significance (Aug 26, 2023)	criteria provided, single submitter
Select item 176365356.	NM_001211.6(BUB1B):c.84T>C (p.Asn28=) GRCh37: Chr15:40457302 GRCh38: Chr15:40165101	BUB1B		Inborn genetic diseases	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 223432157.	NM_001211.6(BUB1B):c.86T>C (p.Val29Ala) GRCh37: Chr15:40457304 GRCh38: Chr15:40165103	BUB1B	V29A	Inborn genetic diseases	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 176469858.	NM_001211.6(BUB1B):c.87A>C (p.Val29=) GRCh37: Chr15:40457305 GRCh38: Chr15:40165104	BUB1B		Inborn genetic diseases	Likely benign (Sep 30, 2021)	criteria provided, single submitter
Select item 176578259.	NM_001211.6(BUB1B):c.90A>G (p.Gln30=) GRCh37: Chr15:40457308 GRCh38: Chr15:40165107	BUB1B		Inborn genetic diseases	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 176616560.	NM_001211.6(BUB1B):c.91C>T (p.Pro31Ser) GRCh37: Chr15:40457309 GRCh38: Chr15:40165108	BUB1B	P31S	Inborn genetic diseases	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 176647961.	NM_001211.6(BUB1B):c.92C>G (p.Pro31Arg) GRCh37: Chr15:40457310 GRCh38: Chr15:40165109	BUB1B	P31R	Inborn genetic diseases	Uncertain significance (Jul 9, 2021)	criteria provided, single submitter
Select item 176786762.	NM_001211.6(BUB1B):c.96A>G (p.Leu32=) GRCh37: Chr15:40457314 GRCh38: Chr15:40165113	BUB1B		Inborn genetic diseases	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 176786363.	NM_001211.6(BUB1B):c.96A>C (p.Leu32Phe) GRCh37: Chr15:40457314 GRCh38: Chr15:40165113	BUB1B	L32F	Inborn genetic diseases	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 213395264.	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 256544565.	NM_001211.6(BUB1B):c.101A>G (p.Gln34Arg) GRCh37: Chr15:40457319 GRCh38: Chr15:40165118	BUB1B	Q34R	Inborn genetic diseases	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 177669266.	NM_001211.6(BUB1B):c.104G>C (p.Gly35Ala) GRCh37: Chr15:40457322 GRCh38: Chr15:40165121	BUB1B	G35A	Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 131721667.	NM_001211.6(BUB1B):c.104G>A (p.Gly35Glu) GRCh37: Chr15:40457322 GRCh38: Chr15:40165121	BUB1B	G35E	not provided	Uncertain significance (May 21, 2019)	criteria provided, single submitter
Select item 177996268.	NM_001211.6(BUB1B):c.105G>C (p.Gly35=) GRCh37: Chr15:40457323 GRCh38: Chr15:40165122	BUB1B		Inborn genetic diseases	Likely benign (Mar 16, 2020)	criteria provided, single submitter
Select item 178295969.	NM_001211.6(BUB1B):c.106C>T (p.Arg36Trp) GRCh37: Chr15:40457324 GRCh38: Chr15:40165123	BUB1B	R36W	Inborn genetic diseases	Uncertain significance (Oct 9, 2021)	criteria provided, single submitter
Select item 178293170.	NM_001211.6(BUB1B):c.106C>A (p.Arg36=) GRCh37: Chr15:40457324 GRCh38: Chr15:40165123	BUB1B		Inborn genetic diseases	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 139395471.	NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln) GRCh37: Chr15:40457325 GRCh38: Chr15:40165124	BUB1B	R36Q	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 173091972.	NM_001211.6(BUB1B):c.113T>C (p.Met38Thr) GRCh37: Chr15:40457331 GRCh38: Chr15:40165130	BUB1B	M38T	Inborn genetic diseases	Uncertain significance (Oct 31, 2021)	criteria provided, single submitter
Select item 149423173.	NM_001211.6(BUB1B):c.114G>C (p.Met38Ile) GRCh37: Chr15:40457332 GRCh38: Chr15:40165131	BUB1B	M38I	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 174442474.	NM_001211.6(BUB1B):c.118A>G (p.Thr40Ala) GRCh37: Chr15:40457336 GRCh38: Chr15:40165135	BUB1B	T40A	Inborn genetic diseases	Uncertain significance (Sep 20, 2021)	criteria provided, single submitter
Select item 675875.	NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) GRCh37: Chr15:40457337 GRCh38: Chr15:40165136	BUB1B	T40M	Colorectal cancer, Premature chromatid separation trait, Mosaic variegated aneuploidy syndrome 1, not specified, not provided, Mosaic variegated aneuploidy syndrome 1	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175005676.	NM_001211.6(BUB1B):c.120G>T (p.Thr40=) GRCh37: Chr15:40457338 GRCh38: Chr15:40165137	BUB1B		Inborn genetic diseases	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 154328677.	NM_001211.6(BUB1B):c.120G>A (p.Thr40=) GRCh37: Chr15:40457338 GRCh38: Chr15:40165137	BUB1B		Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Likely benign (May 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104513078.	NM_001211.6(BUB1B):c.125A>G (p.Gln42Arg) GRCh37: Chr15:40457343 GRCh38: Chr15:40165142	BUB1B	Q42R	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 176507279.	NM_001211.6(BUB1B):c.126G>A (p.Gln42=) GRCh37: Chr15:40457344 GRCh38: Chr15:40165143	BUB1B		Inborn genetic diseases	Likely benign (Sep 5, 2019)	criteria provided, single submitter
Select item 176929780.	NM_001211.6(BUB1B):c.129A>G (p.Gly43=) GRCh37: Chr15:40457347 GRCh38: Chr15:40165146	BUB1B		Inborn genetic diseases	Likely benign (Jan 15, 2020)	criteria provided, single submitter
Select item 176963081.	NM_001211.6(BUB1B):c.130G>A (p.Ala44Thr) GRCh37: Chr15:40457348 GRCh38: Chr15:40165147	BUB1B	A44T	Inborn genetic diseases	Uncertain significance (Aug 2, 2021)	criteria provided, single submitter
Select item 258593482.	NM_001211.6(BUB1B):c.131C>G (p.Ala44Gly) GRCh37: Chr15:40457349 GRCh38: Chr15:40165148	BUB1B	A44G	Inborn genetic diseases	Uncertain significance (Sep 7, 2023)	criteria provided, single submitter
Select item 154961583.	NM_001211.6(BUB1B):c.132A>G (p.Ala44=) GRCh37: Chr15:40457350 GRCh38: Chr15:40165149	BUB1B		Mosaic variegated aneuploidy syndrome 1	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 177032184.	NM_001211.6(BUB1B):c.133C>T (p.Leu45=) GRCh37: Chr15:40457351 GRCh38: Chr15:40165150	BUB1B		Inborn genetic diseases	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 66350585.	NM_001211.6(BUB1B):c.136G>A (p.Ala46Thr) GRCh37: Chr15:40457354 GRCh38: Chr15:40165153	BUB1B	A46T	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149108186.	NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly) GRCh37: Chr15:40457355 GRCh38: Chr15:40165154	BUB1B	A46G	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 177149287.	NM_001211.6(BUB1B):c.138A>G (p.Ala46=) GRCh37: Chr15:40457356 GRCh38: Chr15:40165155	BUB1B		Inborn genetic diseases	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 177197988.	NM_001211.6(BUB1B):c.140A>T (p.Gln47Leu) GRCh37: Chr15:40457358 GRCh38: Chr15:40165157	BUB1B	Q47L	Inborn genetic diseases	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 177197489.	NM_001211.6(BUB1B):c.140A>C (p.Gln47Pro) GRCh37: Chr15:40457358 GRCh38: Chr15:40165157	BUB1B	Q47P	Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177333290.	NM_001211.6(BUB1B):c.146C>T (p.Ser49Phe) GRCh37: Chr15:40457364 GRCh38: Chr15:40165163	BUB1B	S49F	Inborn genetic diseases	Uncertain significance (Jun 14, 2021)	criteria provided, single submitter
Select item 177375491.	NM_001211.6(BUB1B):c.148G>T (p.Ala50Ser) GRCh37: Chr15:40457366 GRCh38: Chr15:40165165	BUB1B	A50S	Inborn genetic diseases	Uncertain significance (Oct 17, 2021)	criteria provided, single submitter
Select item 131927392.	NM_001211.6(BUB1B):c.151T>C (p.Cys51Arg) GRCh37: Chr15:40457369 GRCh38: Chr15:40165168	BUB1B	C51R	not provided	Uncertain significance (Nov 3, 2021)	criteria provided, single submitter
Select item 73326593.	NM_001211.6(BUB1B):c.156C>T (p.Asn52=) GRCh37: Chr15:40457374 GRCh38: Chr15:40165173	BUB1B		Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Likely benign (Sep 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177611694.	NM_001211.6(BUB1B):c.159T>C (p.Asn53=) GRCh37: Chr15:40457377 GRCh38: Chr15:40165176	BUB1B		Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases	Likely benign (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 249764995.	NM_001211.6(BUB1B):c.161C>T (p.Thr54Ile) GRCh37: Chr15:40457379 GRCh38: Chr15:40165178	BUB1B	T54I	Inborn genetic diseases	Uncertain significance (Nov 27, 2022)	criteria provided, single submitter
Select item 93700896.	NM_001211.6(BUB1B):c.163C>G (p.Leu55Val) GRCh37: Chr15:40457381 GRCh38: Chr15:40165180	BUB1B	L55V	Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137016497.	NM_001211.6(BUB1B):c.164T>C (p.Leu55Pro) GRCh37: Chr15:40457382 GRCh38: Chr15:40165181	BUB1B	L55P	Mosaic variegated aneuploidy syndrome 1	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 177746598.	NM_001211.6(BUB1B):c.165T>C (p.Leu55=) GRCh37: Chr15:40457383 GRCh38: Chr15:40165182	BUB1B		Inborn genetic diseases	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 138625399.	NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter) GRCh37: Chr15:40457387 GRCh38: Chr15:40165186	BUB1B	Q57*	Mosaic variegated aneuploidy syndrome 1	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 715216100.	NM_001211.6(BUB1B):c.171G>A (p.Gln57=) GRCh37: Chr15:40457389 GRCh38: Chr15:40165188	BUB1B		Inborn genetic diseases, Mosaic variegated aneuploidy syndrome 1	Likely benign (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts

<< First< Prev

Page of 16