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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1496621.	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 GRCh37: Chr2:102327287-111548995 GRCh38: Chr2:101710825-110791418	LOC129934515, LOC129934516, LOC129934517, LOC129934518, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, LOC129934530, LOC129934531, LOC129934532, LOC129934533, LOC129934534, LOC129934535, LOC129934536, LOC129934537, LOC129934538, LOC129934539, LOC129934540, LOC129934541, LOC129934542, LOC129934543, LOC129934544, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC129934555, LOC129934556, LOC129934557, LOC129934558, LOC132088750, MALL, MAP4K4, MFSD9, MIR4265, MIR4266, MIR4267, MIR4436B1, MIR4436B2, MIR4772, MRPS9, MRPS9-AS1, MRPS9-AS2, MTLN, NCK2, NPHP1, PANTR1, POU3F3, RANBP2, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, SEPTIN10, SH3RF3, SH3RF3-AS1, SLC5A7, SLC9A2, SLC9A4, SNORD132, SOWAHC, ST6GAL2, SULT1C2, SULT1C3, SULT1C4, TGFBRAP1, TMEM182, UXS1, ACOXL, BUB1, C2orf49, C2orf49-DT, CCDC138, CD8B2, ECRG4, EDAR, FHL2, GACAT1, GCC2, GCC2-AS1, GPR45, IL18R1, IL18RAP, IL1R1, IL1R1-AS1, IL1R2, IL1RL1, IL1RL2, LIMS1, LIMS1-AS1, LIMS3, LIMS3-LOC440895, LIMS4, LINC01102, LINC01103, LINC01106, LINC01114, LINC01123, LINC01127, LINC01159, LINC01593, LINC01594, LINC01789, LINC01796, LINC01831, LINC01885, LINC01886, LINC01918, LINC01935, LINC02946, LOC100287010, LOC101927383, LOC105373524, LOC105373525, LOC105373526, LOC105373553, LOC107305683, LOC107305684, LOC107305685, LOC107305686, LOC110120670, LOC110120750, LOC110120793, LOC110120814, LOC110120821, LOC110120987, LOC110120992, LOC110121001, LOC110121005, LOC110121017, LOC110121029, LOC110121047, LOC110121130, LOC110121132, LOC110121135, LOC110121140, LOC110121141, LOC110121142, LOC110121149, LOC111828510, LOC112695110, LOC112695111, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC114004366, LOC114827847, LOC120961777, LOC120961778, LOC121725098, LOC122817717, LOC122817718, LOC122817719, LOC122817720, LOC122817721, LOC122817722, LOC122817723, LOC126806288, LOC126806289, LOC126806290, LOC126806291, LOC126806292, LOC126806293, LOC126806294, LOC126806295, LOC126806296, LOC126806297, LOC126806298, LOC126806299, LOC126806300, LOC126806301, LOC126806302, LOC126806303, LOC126806304, LOC126806305, LOC126806306, LOC128966597, LOC129388895, LOC129388896, LOC129388897, LOC129388898, LOC129388899, LOC129934470, LOC129934471, LOC129934472, LOC129934473, LOC129934474, LOC129934475, LOC129934476, LOC129934477, LOC129934478, LOC129934479, LOC129934480, LOC129934481, LOC129934482, LOC129934483, LOC129934484, LOC129934485, LOC129934486, LOC129934487, LOC129934488, LOC129934489, LOC129934490, LOC129934491, LOC129934492, LOC129934493, LOC129934494, LOC129934495, LOC129934496, LOC129934497, LOC129934498, LOC129934499, LOC129934500, LOC129934501, LOC129934502, LOC129934503, LOC129934504, LOC129934505, LOC129934506, LOC129934507, LOC129934508, LOC129934509, LOC129934510, LOC129934511, LOC129934512, LOC129934513, LOC129934514		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 1522392.	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 GRCh37: Chr2:107045119-113136644 GRCh38: Chr2:106428663-112379067	ACOXL, ACOXL-AS1, ANAPC1, BCL2L11, BUB1, CCDC138, CD8B2, EDAR, FBLN7, GACAT1, GCC2, GCC2-AS1, LIMS1, LIMS1-AS1, LIMS3, LIMS3-LOC440895, LIMS4, LINC01106, LINC01123, LINC01593, LINC01594, LINC01789, LINC01885, LINC01886, LOC105373553, LOC105373559, LOC107305684, LOC107305685, LOC107305686, LOC112695112, LOC112695113, LOC112695114, LOC112695115, LOC112806037, LOC115945185, LOC120961778, LOC120961779, LOC122817721, LOC122817722, LOC122817723, LOC122817724, LOC122817725, LOC122817726, LOC122817727, LOC126806299, LOC126806300, LOC126806301, LOC126806302, LOC126806303, LOC126806304, LOC126806305, LOC126806306, LOC126806307, LOC126806308, LOC126806309, LOC128966597, LOC129388896, LOC129388897, LOC129388898, LOC129388899, LOC129388900, LOC129934519, LOC129934520, LOC129934521, LOC129934522, LOC129934523, LOC129934524, LOC129934525, LOC129934526, LOC129934527, LOC129934528, LOC129934529, LOC129934530, LOC129934531, LOC129934532, LOC129934533, LOC129934534, LOC129934535, LOC129934536, LOC129934537, LOC129934538, LOC129934539, LOC129934540, LOC129934541, LOC129934542, LOC129934543, LOC129934544, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC129934555, LOC129934556, LOC129934557, LOC129934558, LOC129934559, LOC129934560, LOC129934561, LOC129934562, LOC129934563, LOC129934564, LOC129934565, LOC129934566, LOC129934567, LOC129934568, LOC129934569, LOC129934570, LOC129934571, LOC129934572, LOC129934573, LOC129934574, LOC129934575, LOC129934576, LOC129934577, LOC129934578, LOC129934579, LOC129934580, MALL, MERTK, MIR4265, MIR4266, MIR4267, MIR4435-2, MIR4435-2HG, MIR4436B1, MIR4436B2, MIR4771-2, MTLN, NPHP1, RANBP2, RGPD3, RGPD4, RGPD4-AS1, RGPD5, RGPD6, RGPD8, SEPTIN10, SH3RF3, SH3RF3-AS1, SLC5A7, SNORD132, SOCAR, SOWAHC, ST6GAL2, SULT1C2, SULT1C3, SULT1C4, TMEM87B, ZC3H6, ZC3H8		See cases	Uncertain significance (Jan 9, 2013)	no assertion criteria provided
Select item 1528063.	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3 GRCh37: Chr2:111335143-113089106 GRCh38: Chr2:110577566-112331529	ACOXL, ACOXL-AS1, ANAPC1, BCL2L11, BUB1, FBLN7, LOC105373553, LOC105373559, LOC112806037, LOC115945185, LOC120961779, LOC122817723, LOC122817724, LOC122817725, LOC122817726, LOC122817727, LOC126806307, LOC126806308, LOC126806309, LOC129388900, LOC129934557, LOC129934558, LOC129934559, LOC129934560, LOC129934561, LOC129934562, LOC129934563, LOC129934564, LOC129934565, LOC129934566, LOC129934567, LOC129934568, LOC129934569, LOC129934570, LOC129934571, LOC129934572, LOC129934573, LOC129934574, LOC129934575, LOC129934576, LOC129934577, LOC129934578, LOC129934579, LOC129934580, MERTK, MIR4435-2, MIR4435-2HG, MIR4771-2, RGPD6, SNORD132, SOCAR, TMEM87B, ZC3H6, ZC3H8		See cases	Uncertain significance (Sep 27, 2013)	no assertion criteria provided
Select item 1444764.	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1 GRCh37: Chr2:111368832-113065779 GRCh38: Chr2:110611255-112308202	ACOXL, ACOXL-AS1, ANAPC1, BCL2L11, BUB1, FBLN7, LOC105373553, LOC105373559, LOC112806037, LOC115945185, LOC120961779, LOC122817723, LOC122817724, LOC122817725, LOC122817726, LOC122817727, LOC126806307, LOC126806308, LOC126806309, LOC129388900, LOC129934557, LOC129934558, LOC129934559, LOC129934560, LOC129934561, LOC129934562, LOC129934563, LOC129934564, LOC129934565, LOC129934566, LOC129934567, LOC129934568, LOC129934569, LOC129934570, LOC129934571, LOC129934572, LOC129934573, LOC129934574, LOC129934575, LOC129934576, LOC129934577, LOC129934578, LOC129934579, LOC129934580, MERTK, MIR4435-2, MIR4435-2HG, MIR4771-2, SNORD132, SOCAR, TMEM87B, ZC3H6, ZC3H8		See cases	Uncertain significance (Apr 30, 2010)	no assertion criteria provided
Select item 1532545.	GRCh38/hg38 2q13(chr2:110631041-111007139)x1 GRCh37: Chr2:111388618-111764716 GRCh38: Chr2:110631041-111007139	ACOXL, BUB1, LOC122817723, LOC126806307, LOC129934557, LOC129934558, LOC129934559, LOC129934560, SNORD132		See cases	Uncertain significance (Mar 24, 2014)	no assertion criteria provided
Select item 1540326.	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1 GRCh37: Chr2:111388619-113111856 GRCh38: Chr2:110631042-112354279	ACOXL, ACOXL-AS1, ANAPC1, BCL2L11, BUB1, FBLN7, LOC105373559, LOC112806037, LOC115945185, LOC120961779, LOC122817723, LOC122817724, LOC122817725, LOC122817726, LOC122817727, LOC126806307, LOC126806308, LOC126806309, LOC129388900, LOC129934557, LOC129934558, LOC129934559, LOC129934560, LOC129934561, LOC129934562, LOC129934563, LOC129934564, LOC129934565, LOC129934566, LOC129934567, LOC129934568, LOC129934569, LOC129934570, LOC129934571, LOC129934572, LOC129934573, LOC129934574, LOC129934575, LOC129934576, LOC129934577, LOC129934578, LOC129934579, LOC129934580, MERTK, MIR4435-2, MIR4435-2HG, MIR4771-2, SNORD132, SOCAR, TMEM87B, ZC3H6, ZC3H8		See cases	Uncertain significance (Jul 18, 2014)	no assertion criteria provided
Select item 593237.	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3 GRCh37: Chr2:111392197-113102594 GRCh38: Chr2:110634620-112345017	ACOXL, ACOXL-AS1, ANAPC1, BCL2L11, BUB1, FBLN7, LOC105373559, LOC112806037, LOC115945185, LOC120961779, LOC122817723, LOC122817724, LOC122817725, LOC122817726, LOC122817727, LOC126806307, LOC126806308, LOC126806309, LOC129388900, LOC129934557, LOC129934558, LOC129934559, LOC129934560, LOC129934561, LOC129934562, LOC129934563, LOC129934564, LOC129934565, LOC129934566, LOC129934567, LOC129934568, LOC129934569, LOC129934570, LOC129934571, LOC129934572, LOC129934573, LOC129934574, LOC129934575, LOC129934576, LOC129934577, LOC129934578, LOC129934579, LOC129934580, MERTK, MIR4435-2, MIR4435-2HG, MIR4771-2, SNORD132, SOCAR, TMEM87B, ZC3H6, ZC3H8		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 24649398.	NM_004336.5(BUB1):c.3251G>A (p.Arg1084Gln) GRCh37: Chr2:111395548 GRCh38: Chr2:110637971	BUB1	R1027Q, R1064Q, R1084Q	Inborn genetic diseases	Uncertain significance (Jan 16, 2023)	criteria provided, single submitter
Select item 17293469.	NM_004336.5(BUB1):c.3246T>C (p.Arg1082=) GRCh37: Chr2:111395553 GRCh38: Chr2:110637976	BUB1		Inborn genetic diseases	Likely benign (Nov 22, 2020)	criteria provided, single submitter
Select item 256581910.	NM_004336.5(BUB1):c.3244C>A (p.Arg1082Ser) GRCh37: Chr2:111395555 GRCh38: Chr2:110637978	BUB1	R1025S, R1082S, R1062S	Inborn genetic diseases	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 172933011.	NM_004336.5(BUB1):c.3244C>T (p.Arg1082Cys) GRCh37: Chr2:111395555 GRCh38: Chr2:110637978	BUB1	R1025C, R1062C, R1082C	Inborn genetic diseases	Uncertain significance (Jul 28, 2023)	criteria provided, single submitter
Select item 172932812.	NM_004336.5(BUB1):c.3244C>G (p.Arg1082Gly) GRCh37: Chr2:111395555 GRCh38: Chr2:110637978	BUB1	R1062G, R1025G, R1082G	Inborn genetic diseases	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 172931313.	NM_004336.5(BUB1):c.3242A>T (p.Lys1081Met) GRCh37: Chr2:111395557 GRCh38: Chr2:110637980	BUB1	K1024M, K1081M, K1061M	Inborn genetic diseases	Uncertain significance (Aug 15, 2021)	criteria provided, single submitter
Select item 172926514.	NM_004336.5(BUB1):c.3238T>G (p.Cys1080Gly) GRCh37: Chr2:111395561 GRCh38: Chr2:110637984	BUB1	C1023G, C1060G, C1080G	Inborn genetic diseases	Uncertain significance (Jul 11, 2021)	criteria provided, single submitter
Select item 172914415.	NM_004336.5(BUB1):c.3228G>T (p.Leu1076=) GRCh37: Chr2:111395571 GRCh38: Chr2:110637994	BUB1		Inborn genetic diseases	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 246457116.	NM_004336.5(BUB1):c.3223G>A (p.Val1075Ile) GRCh37: Chr2:111395576 GRCh38: Chr2:110637999	BUB1	V1018I, V1055I, V1075I	Inborn genetic diseases	Uncertain significance (Dec 23, 2022)	criteria provided, single submitter
Select item 246496117.	NM_004336.5(BUB1):c.3221T>C (p.Ile1074Thr) GRCh37: Chr2:111395578 GRCh38: Chr2:110638001	BUB1	I1074T, I1017T, I1054T	Inborn genetic diseases	Uncertain significance (Mar 11, 2023)	criteria provided, single submitter
Select item 172901918.	NM_004336.5(BUB1):c.3219A>G (p.Leu1073=) GRCh37: Chr2:111395580 GRCh38: Chr2:110638003	BUB1		Inborn genetic diseases	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 256578819.	NM_004336.5(BUB1):c.3215G>A (p.Arg1072Lys) GRCh37: Chr2:111395584 GRCh38: Chr2:110638007	BUB1	R1015K, R1072K, R1052K	Inborn genetic diseases	Uncertain significance (Apr 9, 2023)	criteria provided, single submitter
Select item 172893920.	NM_004336.5(BUB1):c.3210T>G (p.Arg1070=) GRCh37: Chr2:111395589 GRCh38: Chr2:110638012	BUB1		Inborn genetic diseases	Likely benign (May 25, 2019)	criteria provided, single submitter
Select item 172889421.	NM_004336.5(BUB1):c.3209G>T (p.Arg1070Leu) GRCh37: Chr2:111395590 GRCh38: Chr2:110638013	BUB1	R1013L, R1050L, R1070L	Inborn genetic diseases	Uncertain significance (Jul 8, 2023)	criteria provided, single submitter
Select item 172889322.	NM_004336.5(BUB1):c.3209G>C (p.Arg1070Pro) GRCh37: Chr2:111395590 GRCh38: Chr2:110638013	BUB1	R1013P, R1050P, R1070P	Inborn genetic diseases	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 172889223.	NM_004336.5(BUB1):c.3209G>A (p.Arg1070His) GRCh37: Chr2:111395590 GRCh38: Chr2:110638013	BUB1	R1013H, R1070H, R1050H	Inborn genetic diseases	Uncertain significance (Aug 31, 2023)	criteria provided, single submitter
Select item 246451924.	NM_004336.5(BUB1):c.3208C>T (p.Arg1070Cys) GRCh37: Chr2:111395591 GRCh38: Chr2:110638014	BUB1	R1070C, R1013C, R1050C	Inborn genetic diseases	Uncertain significance (Nov 10, 2022)	criteria provided, single submitter
Select item 172887225.	NM_004336.5(BUB1):c.3207A>G (p.Leu1069=) GRCh37: Chr2:111395592 GRCh38: Chr2:110638015	BUB1		Inborn genetic diseases	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 172885926.	NM_004336.5(BUB1):c.3205C>T (p.Leu1069=) GRCh37: Chr2:111395594 GRCh38: Chr2:110638017	BUB1		Inborn genetic diseases	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 172884427.	NM_004336.5(BUB1):c.3203C>T (p.Ala1068Val) GRCh37: Chr2:111395596 GRCh38: Chr2:110638019	BUB1	A1048V, A1068V, A1011V	Inborn genetic diseases	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 172884328.	NM_004336.5(BUB1):c.3203C>A (p.Ala1068Asp) GRCh37: Chr2:111395596 GRCh38: Chr2:110638019	BUB1	A1068D, A1011D, A1048D	Inborn genetic diseases	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 172884129.	NM_004336.5(BUB1):c.3202G>C (p.Ala1068Pro) GRCh37: Chr2:111395597 GRCh38: Chr2:110638020	BUB1	A1068P, A1011P, A1048P	Inborn genetic diseases	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 172884030.	NM_004336.5(BUB1):c.3202G>A (p.Ala1068Thr) GRCh37: Chr2:111395597 GRCh38: Chr2:110638020	BUB1	A1068T, A1048T, A1011T	Inborn genetic diseases	Likely benign (Nov 22, 2021)	criteria provided, single submitter
Select item 172874231.	NM_004336.5(BUB1):c.3198T>C (p.Ile1066=) GRCh37: Chr2:111395601 GRCh38: Chr2:110638024	BUB1		Inborn genetic diseases	Likely benign (Mar 17, 2020)	criteria provided, single submitter
Select item 172871432.	NM_004336.5(BUB1):c.3196A>G (p.Ile1066Val) GRCh37: Chr2:111395603 GRCh38: Chr2:110638026	BUB1	I1046V, I1066V, I1009V	Inborn genetic diseases	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 172866233.	NM_004336.5(BUB1):c.3190A>G (p.Asn1064Asp) GRCh37: Chr2:111395609 GRCh38: Chr2:110638032	BUB1	N1007D, N1044D, N1064D	Inborn genetic diseases	Uncertain significance (Jul 4, 2021)	criteria provided, single submitter
Select item 256218034.	NM_004336.5(BUB1):c.3188C>T (p.Thr1063Ile) GRCh37: Chr2:111395611 GRCh38: Chr2:110638034	BUB1	T1006I, T1043I, T1063I	Inborn genetic diseases	Uncertain significance (Apr 28, 2023)	criteria provided, single submitter
Select item 172857535.	NM_004336.5(BUB1):c.3185A>G (p.Tyr1062Cys) GRCh37: Chr2:111395614 GRCh38: Chr2:110638037	BUB1	Y1005C, Y1062C, Y1042C	Inborn genetic diseases	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 258614036.	NM_004336.5(BUB1):c.3181C>G (p.His1061Asp) GRCh37: Chr2:111395618 GRCh38: Chr2:110638041	BUB1	H1041D, H1004D, H1061D	Inborn genetic diseases	Uncertain significance (Jun 24, 2023)	criteria provided, single submitter
Select item 246452937.	NM_004336.5(BUB1):c.3178C>A (p.Gln1060Lys) GRCh37: Chr2:111395621 GRCh38: Chr2:110638044	BUB1	Q1003K, Q1040K, Q1060K	Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 172848838.	NM_004336.5(BUB1):c.3177A>G (p.Gln1059=) GRCh37: Chr2:111395622 GRCh38: Chr2:110638045	BUB1		Inborn genetic diseases	Likely benign (Jul 4, 2021)	criteria provided, single submitter
Select item 172843239.	NM_004336.5(BUB1):c.3171A>G (p.Val1057=) GRCh37: Chr2:111395628 GRCh38: Chr2:110638051	BUB1		Inborn genetic diseases	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 172836840.	NM_004336.5(BUB1):c.3166A>G (p.Lys1056Glu) GRCh37: Chr2:111395633 GRCh38: Chr2:110638056	BUB1	K1056E, K1036E, K999E	Inborn genetic diseases	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 256582441.	NM_004336.5(BUB1):c.3162G>C (p.Leu1054=) GRCh37: Chr2:111395637 GRCh38: Chr2:110638060	BUB1		Inborn genetic diseases	Likely benign (Jun 5, 2023)	criteria provided, single submitter
Select item 172813842.	NM_004336.5(BUB1):c.3147G>C (p.Leu1049Phe) GRCh37: Chr2:111395652 GRCh38: Chr2:110638075	BUB1	L1029F, L992F, L1049F	Inborn genetic diseases	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 172800043.	NM_004336.5(BUB1):c.3135A>G (p.Pro1045=) GRCh37: Chr2:111395664 GRCh38: Chr2:110638087	BUB1		Inborn genetic diseases	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 172797644.	NM_004336.5(BUB1):c.3131T>G (p.Leu1044Arg) GRCh37: Chr2:111395668 GRCh38: Chr2:110638091	BUB1	L1024R, L987R, L1044R	Inborn genetic diseases	Uncertain significance (Sep 23, 2021)	criteria provided, single submitter
Select item 172797545.	NM_004336.5(BUB1):c.3131T>C (p.Leu1044Pro) GRCh37: Chr2:111395668 GRCh38: Chr2:110638091	BUB1	L1024P, L987P, L1044P	Inborn genetic diseases	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 245125046.	NM_004336.5(BUB1):c.3125A>G (p.His1042Arg) GRCh37: Chr2:111395674 GRCh38: Chr2:110638097	BUB1	H985R, H1042R, H1022R	Inborn genetic diseases	Uncertain significance (Jan 5, 2023)	criteria provided, single submitter
Select item 245124647.	NM_004336.5(BUB1):c.3122G>A (p.Cys1041Tyr) GRCh37: Chr2:111395677 GRCh38: Chr2:110638100	BUB1	C1041Y, C1021Y, C984Y	Inborn genetic diseases	Uncertain significance (Dec 26, 2022)	criteria provided, single submitter
Select item 172779548.	NM_004336.5(BUB1):c.3115C>G (p.Pro1039Ala) GRCh37: Chr2:111395684 GRCh38: Chr2:110638107	BUB1	P1019A, P1039A, P982A	Inborn genetic diseases	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 172779449.	NM_004336.5(BUB1):c.3115C>A (p.Pro1039Thr) GRCh37: Chr2:111395684 GRCh38: Chr2:110638107	BUB1	P1019T, P982T, P1039T	Inborn genetic diseases	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 172768450.	NM_004336.5(BUB1):c.3105G>A (p.Met1035Ile) GRCh37: Chr2:111395694 GRCh38: Chr2:110638117	BUB1	M978I, M1035I, M1015I	Inborn genetic diseases	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 256090351.	NM_004336.5(BUB1):c.3104T>A (p.Met1035Lys) GRCh37: Chr2:111395695 GRCh38: Chr2:110638118	BUB1	M978K, M1015K, M1035K	Inborn genetic diseases	Uncertain significance (Mar 17, 2023)	criteria provided, single submitter
Select item 256578652.	NM_004336.5(BUB1):c.3103A>T (p.Met1035Leu) GRCh37: Chr2:111395696 GRCh38: Chr2:110638119	BUB1	M1035L, M978L, M1015L	Inborn genetic diseases	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 172752453.	NM_004336.5(BUB1):c.3097C>G (p.His1033Asp) GRCh37: Chr2:111395702 GRCh38: Chr2:110638125	BUB1	H1033D, H1013D, H976D	Inborn genetic diseases	Uncertain significance (Oct 27, 2021)	criteria provided, single submitter
Select item 172747754.	NM_004336.5(BUB1):c.3092T>A (p.Phe1031Tyr) GRCh37: Chr2:111395707 GRCh38: Chr2:110638130	BUB1	F1011Y, F1031Y, F974Y	Inborn genetic diseases	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 172737055.	NM_004336.5(BUB1):c.3080T>C (p.Met1027Thr) GRCh37: Chr2:111395719 GRCh38: Chr2:110638142	BUB1	M1007T, M1027T, M970T	Inborn genetic diseases	Uncertain significance (Jan 8, 2022)	criteria provided, single submitter
Select item 244696456.	NM_004336.5(BUB1):c.3079A>G (p.Met1027Val) GRCh37: Chr2:111395720 GRCh38: Chr2:110638143	BUB1	M1027V, M1007V, M970V	Inborn genetic diseases	Uncertain significance (Dec 23, 2022)	criteria provided, single submitter
Select item 172730657.	NM_004336.5(BUB1):c.3075G>C (p.Leu1025Phe) GRCh37: Chr2:111395724 GRCh38: Chr2:110638147	BUB1	L1005F, L1025F, L968F	Inborn genetic diseases	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 179950258.	NM_004336.5(BUB1):c.3071A>T (p.His1024Leu) GRCh37: Chr2:111395728 GRCh38: Chr2:110638151	BUB1	H1004L, H1024L, H967L	Inborn genetic diseases	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 179950159.	NM_004336.5(BUB1):c.3071A>G (p.His1024Arg) GRCh37: Chr2:111395728 GRCh38: Chr2:110638151	BUB1	H967R, H1004R, H1024R	Inborn genetic diseases	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 262473360.	NM_004336.5(BUB1):c.3069T>A (p.Pro1023=) GRCh37: Chr2:111395730 GRCh38: Chr2:110638153	BUB1		Inborn genetic diseases	Likely benign (Aug 5, 2023)	criteria provided, single submitter
Select item 675961.	NM_004336.5(BUB1):c.3069del (p.His1024fs) GRCh37: Chr2:111395730 GRCh38: Chr2:110638153	BUB1	H1024fs, H1004fs, H967fs	Carcinoma of colon	Pathogenic (Mar 19, 1998)	no assertion criteria provided
Select item 245127062.	NM_004336.5(BUB1):c.3068C>G (p.Pro1023Arg) GRCh37: Chr2:111395731 GRCh38: Chr2:110638154	BUB1	P1003R, P966R, P1023R	Inborn genetic diseases	Uncertain significance (Feb 12, 2023)	criteria provided, single submitter
Select item 179940063.	NM_004336.5(BUB1):c.3063G>T (p.Arg1021Ser) GRCh37: Chr2:111395736 GRCh38: Chr2:110638159	BUB1	R964S, R1001S, R1021S	Inborn genetic diseases	Uncertain significance (Jun 28, 2021)	criteria provided, single submitter
Select item 5756564.	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1 GRCh37: Chr2:111395819-113001628 GRCh38: Chr2:110638242-112244051	ACOXL, ACOXL-AS1, ANAPC1, BCL2L11, BUB1, FBLN7, LOC105373559, LOC112806037, LOC120961779, LOC122817723, LOC122817724, LOC122817725, LOC122817726, LOC122817727, LOC126806307, LOC126806308, LOC126806309, LOC129934557, LOC129934558, LOC129934559, LOC129934560, LOC129934561, LOC129934562, LOC129934563, LOC129934564, LOC129934565, LOC129934566, LOC129934567, LOC129934568, LOC129934569, LOC129934570, LOC129934571, LOC129934572, LOC129934573, LOC129934574, LOC129934575, LOC129934576, LOC129934577, LOC129934578, MERTK, MIR4435-2, MIR4435-2HG, MIR4771-2, SNORD132, SOCAR, TMEM87B, ZC3H8		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 5756465.	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1 GRCh37: Chr2:111395819-113075478 GRCh38: Chr2:110638242-112317901	ACOXL, ACOXL-AS1, ANAPC1, BCL2L11, BUB1, FBLN7, LOC105373559, LOC112806037, LOC115945185, LOC120961779, LOC122817723, LOC122817724, LOC122817725, LOC122817726, LOC122817727, LOC126806307, LOC126806308, LOC126806309, LOC129388900, LOC129934557, LOC129934558, LOC129934559, LOC129934560, LOC129934561, LOC129934562, LOC129934563, LOC129934564, LOC129934565, LOC129934566, LOC129934567, LOC129934568, LOC129934569, LOC129934570, LOC129934571, LOC129934572, LOC129934573, LOC129934574, LOC129934575, LOC129934576, LOC129934577, LOC129934578, LOC129934579, LOC129934580, MERTK, MIR4435-2, MIR4435-2HG, MIR4771-2, SNORD132, SOCAR, TMEM87B, ZC3H6, ZC3H8		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 179936766.	NM_004336.5(BUB1):c.3060A>C (p.Arg1020Ser) GRCh37: Chr2:111397321 GRCh38: Chr2:110639744	BUB1	R1000S, R963S, R1020S	Inborn genetic diseases	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 179930667.	NM_004336.5(BUB1):c.3056T>C (p.Phe1019Ser) GRCh37: Chr2:111397325 GRCh38: Chr2:110639748	BUB1	F999S, F1019S, F962S	Inborn genetic diseases	Uncertain significance (Nov 21, 2021)	criteria provided, single submitter
Select item 179922268.	NM_004336.5(BUB1):c.3049G>A (p.Gly1017Ser) GRCh37: Chr2:111397332 GRCh38: Chr2:110639755	BUB1	G997S, G1017S, G960S	Inborn genetic diseases	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 179910769.	NM_004336.5(BUB1):c.3038G>A (p.Cys1013Tyr) GRCh37: Chr2:111397343 GRCh38: Chr2:110639766	BUB1	C1013Y, C993Y, C956Y	Inborn genetic diseases	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 256581170.	NM_004336.5(BUB1):c.3037T>C (p.Cys1013Arg) GRCh37: Chr2:111397344 GRCh38: Chr2:110639767	BUB1	C993R, C1013R, C956R	Inborn genetic diseases	Uncertain significance (May 14, 2023)	criteria provided, single submitter
Select item 71236071.	NM_004336.5(BUB1):c.3036G>A (p.Glu1012=) GRCh37: Chr2:111397345 GRCh38: Chr2:110639768	BUB1		Inborn genetic diseases, not provided	Benign/Likely benign (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 246463372.	NM_004336.5(BUB1):c.3035A>C (p.Glu1012Ala) GRCh37: Chr2:111397346 GRCh38: Chr2:110639769	BUB1	E955A, E1012A, E992A	Inborn genetic diseases	Uncertain significance (Feb 12, 2023)	criteria provided, single submitter
Select item 258614273.	NM_004336.5(BUB1):c.3033A>C (p.Gly1011=) GRCh37: Chr2:111397348 GRCh38: Chr2:110639771	BUB1		Inborn genetic diseases	Likely benign (Jun 27, 2023)	criteria provided, single submitter
Select item 179905874.	NM_004336.5(BUB1):c.3033A>G (p.Gly1011=) GRCh37: Chr2:111397348 GRCh38: Chr2:110639771	BUB1		Inborn genetic diseases	Likely benign (Jul 20, 2021)	criteria provided, single submitter
Select item 179905775.	NM_004336.5(BUB1):c.3032G>A (p.Gly1011Glu) GRCh37: Chr2:111397349 GRCh38: Chr2:110639772	BUB1	G1011E, G954E, G991E	Inborn genetic diseases	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 179899276.	NM_004336.5(BUB1):c.3029G>A (p.Gly1010Glu) GRCh37: Chr2:111397352 GRCh38: Chr2:110639775	BUB1	G990E, G1010E, G953E	Inborn genetic diseases	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 179887077.	NM_004336.5(BUB1):c.3017T>C (p.Val1006Ala) GRCh37: Chr2:111397364 GRCh38: Chr2:110639787	BUB1	V986A, V1006A, V949A	Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 179883878.	NM_004336.5(BUB1):c.3015A>G (p.Lys1005=) GRCh37: Chr2:111397366 GRCh38: Chr2:110639789	BUB1		Inborn genetic diseases	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 256090579.	NM_004336.5(BUB1):c.3013A>C (p.Lys1005Gln) GRCh37: Chr2:111397368 GRCh38: Chr2:110639791	BUB1	K985Q, K1005Q, K948Q	Inborn genetic diseases	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 179877280.	NM_004336.5(BUB1):c.3009C>T (p.Tyr1003=) GRCh37: Chr2:111397372 GRCh38: Chr2:110639795	BUB1		Inborn genetic diseases	Likely benign (Jun 11, 2019)	criteria provided, single submitter
Select item 179871781.	NM_004336.5(BUB1):c.3003C>G (p.Gly1001=) GRCh37: Chr2:111397378 GRCh38: Chr2:110639801	BUB1		Inborn genetic diseases	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 72408082.	NM_004336.5(BUB1):c.3000T>C (p.Phe1000=) GRCh37: Chr2:111397381 GRCh38: Chr2:110639804	BUB1		Inborn genetic diseases, not provided	Likely benign (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 256217583.	NM_004336.5(BUB1):c.2996T>C (p.Leu999Pro) GRCh37: Chr2:111397385 GRCh38: Chr2:110639808	BUB1	L942P, L979P, L999P	Inborn genetic diseases	Uncertain significance (Jun 10, 2023)	criteria provided, single submitter
Select item 179856584.	NM_004336.5(BUB1):c.2995C>T (p.Leu999Phe) GRCh37: Chr2:111397386 GRCh38: Chr2:110639809	BUB1	L999F, L979F, L942F	Inborn genetic diseases	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 179854785.	NM_004336.5(BUB1):c.2993T>C (p.Met998Thr) GRCh37: Chr2:111397388 GRCh38: Chr2:110639811	BUB1	M941T, M978T, M998T	Inborn genetic diseases	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 256089486.	NM_004336.5(BUB1):c.2991C>G (p.Cys997Trp) GRCh37: Chr2:111397390 GRCh38: Chr2:110639813	BUB1	C977W, C997W, C940W	Inborn genetic diseases	Uncertain significance (May 8, 2023)	criteria provided, single submitter
Select item 179853187.	NM_004336.5(BUB1):c.2991C>T (p.Cys997=) GRCh37: Chr2:111397390 GRCh38: Chr2:110639813	BUB1		Inborn genetic diseases	Likely benign (Oct 10, 2019)	criteria provided, single submitter
Select item 179852188.	NM_004336.5(BUB1):c.2990G>C (p.Cys997Ser) GRCh37: Chr2:111397391 GRCh38: Chr2:110639814	BUB1	C977S, C997S, C940S	Inborn genetic diseases	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 179845589.	NM_004336.5(BUB1):c.2987A>G (p.Tyr996Cys) GRCh37: Chr2:111397394 GRCh38: Chr2:110639817	BUB1	Y976C, Y996C, Y939C	Inborn genetic diseases	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 256580690.	NM_004336.5(BUB1):c.2985A>G (p.Val995=) GRCh37: Chr2:111397396 GRCh38: Chr2:110639819	BUB1		Inborn genetic diseases	Likely benign (May 8, 2023)	criteria provided, single submitter
Select item 73017691.	NM_004336.5(BUB1):c.2982A>G (p.Thr994=) GRCh37: Chr2:111397399 GRCh38: Chr2:110639822	BUB1		not provided, Inborn genetic diseases	Likely benign (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179839892.	NM_004336.5(BUB1):c.2980A>G (p.Thr994Ala) GRCh37: Chr2:111397401 GRCh38: Chr2:110639824	BUB1	T937A, T974A, T994A	Inborn genetic diseases	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 246474293.	NM_004336.5(BUB1):c.2977G>T (p.Ala993Ser) GRCh37: Chr2:111397404 GRCh38: Chr2:110639827	BUB1	A993S, A936S, A973S	Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, single submitter
Select item 179833894.	NM_004336.5(BUB1):c.2977G>A (p.Ala993Thr) GRCh37: Chr2:111397404 GRCh38: Chr2:110639827	BUB1	A936T, A993T, A973T	Inborn genetic diseases	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 179825395.	NM_004336.5(BUB1):c.2969G>C (p.Gly990Ala) GRCh37: Chr2:111397412 GRCh38: Chr2:110639835	BUB1	G970A, G933A, G990A	Inborn genetic diseases	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 179823796.	NM_004336.5(BUB1):c.2967T>C (p.Phe989=) GRCh37: Chr2:111397414 GRCh38: Chr2:110639837	BUB1		Inborn genetic diseases	Likely benign (Aug 13, 2021)	criteria provided, single submitter
Select item 246505097.	NM_004336.5(BUB1):c.2965T>C (p.Phe989Leu) GRCh37: Chr2:111397416 GRCh38: Chr2:110639839	BUB1	F932L, F969L, F989L	Inborn genetic diseases	Uncertain significance (Nov 4, 2022)	criteria provided, single submitter
Select item 179813098.	NM_004336.5(BUB1):c.2958C>T (p.Ile986=) GRCh37: Chr2:111397423 GRCh38: Chr2:110639846	BUB1		Inborn genetic diseases	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 245125799.	NM_004336.5(BUB1):c.2950T>C (p.Tyr984His) GRCh37: Chr2:111398616 GRCh38: Chr2:110641039	BUB1	Y927H, Y984H, Y964H	Inborn genetic diseases	Uncertain significance (Jan 18, 2023)	criteria provided, single submitter
Select item 2560906100.	NM_004336.5(BUB1):c.2948A>C (p.Asn983Thr) GRCh37: Chr2:111398618 GRCh38: Chr2:110641041	BUB1	N926T, N963T, N983T	Inborn genetic diseases	Uncertain significance (May 21, 2023)	criteria provided, single submitter

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