BUB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144476	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1	ACOXL, ACOXL-AS1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 153254	GRCh38/hg38 2q13(chr2:110631041-111007139)x1	ACOXL, BUB1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 154032	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1	LOC129934578, LOC129934579 +50 more	Copy number loss	See cases	GUncertain significance
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 3224091	NM_004336.5(BUB1):c.3251G>C (p.Arg1084Pro)	BUB1 (R1027P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464939	NM_004336.5(BUB1):c.3251G>A (p.Arg1084Gln)	BUB1 (R1027Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729346	NM_004336.5(BUB1):c.3246T>C (p.Arg1082=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2565819	NM_004336.5(BUB1):c.3244C>A (p.Arg1082Ser)	BUB1 (R1025S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729330	NM_004336.5(BUB1):c.3244C>T (p.Arg1082Cys)	BUB1 (R1025C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729328	NM_004336.5(BUB1):c.3244C>G (p.Arg1082Gly)	BUB1 (R1062G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224090	NM_004336.5(BUB1):c.3242A>G (p.Lys1081Arg)	BUB1 (K1024R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729313	NM_004336.5(BUB1):c.3242A>T (p.Lys1081Met)	BUB1 (K1024M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729265	NM_004336.5(BUB1):c.3238T>G (p.Cys1080Gly)	BUB1 (C1023G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224089	NM_004336.5(BUB1):c.3236A>C (p.Glu1079Ala)	BUB1 (E1022A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729144	NM_004336.5(BUB1):c.3228G>T (p.Leu1076=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2464571	NM_004336.5(BUB1):c.3223G>A (p.Val1075Ile)	BUB1 (V1018I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464961	NM_004336.5(BUB1):c.3221T>C (p.Ile1074Thr)	BUB1 (I1074T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729019	NM_004336.5(BUB1):c.3219A>G (p.Leu1073=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2565788	NM_004336.5(BUB1):c.3215G>A (p.Arg1072Lys)	BUB1 (R1015K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224087	NM_004336.5(BUB1):c.3213T>C (p.Asn1071=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728939	NM_004336.5(BUB1):c.3210T>G (p.Arg1070=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728894	NM_004336.5(BUB1):c.3209G>T (p.Arg1070Leu)	BUB1 (R1013L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728893	NM_004336.5(BUB1):c.3209G>C (p.Arg1070Pro)	BUB1 (R1013P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728892	NM_004336.5(BUB1):c.3209G>A (p.Arg1070His)	BUB1 (R1013H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464519	NM_004336.5(BUB1):c.3208C>T (p.Arg1070Cys)	BUB1 (R1070C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728872	NM_004336.5(BUB1):c.3207A>G (p.Leu1069=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728859	NM_004336.5(BUB1):c.3205C>T (p.Leu1069=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728844	NM_004336.5(BUB1):c.3203C>T (p.Ala1068Val)	BUB1 (A1048V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728843	NM_004336.5(BUB1):c.3203C>A (p.Ala1068Asp)	BUB1 (A1068D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728841	NM_004336.5(BUB1):c.3202G>C (p.Ala1068Pro)	BUB1 (A1068P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728840	NM_004336.5(BUB1):c.3202G>A (p.Ala1068Thr)	BUB1 (A1068T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3224086	NM_004336.5(BUB1):c.3201G>A (p.Arg1067=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728742	NM_004336.5(BUB1):c.3198T>C (p.Ile1066=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728714	NM_004336.5(BUB1):c.3196A>G (p.Ile1066Val)	BUB1 (I1046V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1728662	NM_004336.5(BUB1):c.3190A>G (p.Asn1064Asp)	BUB1 (N1007D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562180	NM_004336.5(BUB1):c.3188C>T (p.Thr1063Ile)	BUB1 (T1006I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728575	NM_004336.5(BUB1):c.3185A>G (p.Tyr1062Cys)	BUB1 (Y1005C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262111	NM_004336.5(BUB1):c.3184T>C (p.Tyr1062His)	BUB1 (Y1005H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586140	NM_004336.5(BUB1):c.3181C>G (p.His1061Asp)	BUB1 (H1041D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224085	NM_004336.5(BUB1):c.3178C>G (p.Gln1060Glu)	BUB1 (Q1003E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464529	NM_004336.5(BUB1):c.3178C>A (p.Gln1060Lys)	BUB1 (Q1003K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728488	NM_004336.5(BUB1):c.3177A>G (p.Gln1059=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728432	NM_004336.5(BUB1):c.3171A>G (p.Val1057=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728368	NM_004336.5(BUB1):c.3166A>G (p.Lys1056Glu)	BUB1 (K1056E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262098	NM_004336.5(BUB1):c.3164A>G (p.Lys1055Arg)	BUB1 (K1035R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565824	NM_004336.5(BUB1):c.3162G>C (p.Leu1054=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2700746	NM_004336.5(BUB1):c.3159del (p.Lys1053fs)	BUB1 (K1053fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1728138	NM_004336.5(BUB1):c.3147G>C (p.Leu1049Phe)	BUB1 (L1029F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262170	NM_004336.5(BUB1):c.3135A>C (p.Pro1045=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1728000	NM_004336.5(BUB1):c.3135A>G (p.Pro1045=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1727976	NM_004336.5(BUB1):c.3131T>G (p.Leu1044Arg)	BUB1 (L1024R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727975	NM_004336.5(BUB1):c.3131T>C (p.Leu1044Pro)	BUB1 (L1024P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224084	NM_004336.5(BUB1):c.3128A>G (p.His1043Arg)	BUB1 (H1023R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2451250	NM_004336.5(BUB1):c.3125A>G (p.His1042Arg)	BUB1 (H985R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2451246	NM_004336.5(BUB1):c.3122G>A (p.Cys1041Tyr)	BUB1 (C1041Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727795	NM_004336.5(BUB1):c.3115C>G (p.Pro1039Ala)	BUB1 (P1019A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727794	NM_004336.5(BUB1):c.3115C>A (p.Pro1039Thr)	BUB1 (P1019T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727684	NM_004336.5(BUB1):c.3105G>A (p.Met1035Ile)	BUB1 (M978I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560903	NM_004336.5(BUB1):c.3104T>A (p.Met1035Lys)	BUB1 (M978K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565786	NM_004336.5(BUB1):c.3103A>T (p.Met1035Leu)	BUB1 (M1035L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727524	NM_004336.5(BUB1):c.3097C>G (p.His1033Asp)	BUB1 (H1033D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727477	NM_004336.5(BUB1):c.3092T>A (p.Phe1031Tyr)	BUB1 (F1011Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224083	NM_004336.5(BUB1):c.3088G>C (p.Glu1030Gln)	BUB1 (E1010Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727370	NM_004336.5(BUB1):c.3080T>C (p.Met1027Thr)	BUB1 (M1007T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446964	NM_004336.5(BUB1):c.3079A>G (p.Met1027Val)	BUB1 (M1027V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224082	NM_004336.5(BUB1):c.3076G>A (p.Asp1026Asn)	BUB1 (D1006N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727306	NM_004336.5(BUB1):c.3075G>C (p.Leu1025Phe)	BUB1 (L1005F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799502	NM_004336.5(BUB1):c.3071A>T (p.His1024Leu)	BUB1 (H1004L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799501	NM_004336.5(BUB1):c.3071A>G (p.His1024Arg)	BUB1 (H967R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624733	NM_004336.5(BUB1):c.3069T>A (p.Pro1023=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 6759	NM_004336.5(BUB1):c.3069del (p.His1024fs)	BUB1 (H1024fs +2 more)	Deletion (frameshift variant)	Carcinoma of colon	GPathogenic
Select item 2451270	NM_004336.5(BUB1):c.3068C>G (p.Pro1023Arg)	BUB1 (P1003R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799400	NM_004336.5(BUB1):c.3063G>T (p.Arg1021Ser)	BUB1 (R964S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 3224081	NM_004336.5(BUB1):c.3061A>T (p.Arg1021Trp)	BUB1 (R1001W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799367	NM_004336.5(BUB1):c.3060A>C (p.Arg1020Ser)	BUB1 (R1000S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799306	NM_004336.5(BUB1):c.3056T>C (p.Phe1019Ser)	BUB1 (F999S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224080	NM_004336.5(BUB1):c.3053T>G (p.Leu1018Arg)	BUB1 (L1018R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799222	NM_004336.5(BUB1):c.3049G>A (p.Gly1017Ser)	BUB1 (G997S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1799107	NM_004336.5(BUB1):c.3038G>A (p.Cys1013Tyr)	BUB1 (C1013Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565811	NM_004336.5(BUB1):c.3037T>C (p.Cys1013Arg)	BUB1 (C993R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712360	NM_004336.5(BUB1):c.3036G>A (p.Glu1012=)	BUB1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3224079	NM_004336.5(BUB1):c.3035A>G (p.Glu1012Gly)	BUB1 (E1012G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464633	NM_004336.5(BUB1):c.3035A>C (p.Glu1012Ala)	BUB1 (E955A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586142	NM_004336.5(BUB1):c.3033A>C (p.Gly1011=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1799058	NM_004336.5(BUB1):c.3033A>G (p.Gly1011=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1799057	NM_004336.5(BUB1):c.3032G>A (p.Gly1011Glu)	BUB1 (G1011E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1798992	NM_004336.5(BUB1):c.3029G>A (p.Gly1010Glu)	BUB1 (G990E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1798870	NM_004336.5(BUB1):c.3017T>C (p.Val1006Ala)	BUB1 (V986A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1798838	NM_004336.5(BUB1):c.3015A>G (p.Lys1005=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3262101	NM_004336.5(BUB1):c.3013A>G (p.Lys1005Glu)	BUB1 (K948E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560905	NM_004336.5(BUB1):c.3013A>C (p.Lys1005Gln)	BUB1 (K985Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1798772	NM_004336.5(BUB1):c.3009C>T (p.Tyr1003=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3262168	NM_004336.5(BUB1):c.3007T>C (p.Tyr1003His)	BUB1 (Y946H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224077	NM_004336.5(BUB1):c.3006T>C (p.Thr1002=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1798717	NM_004336.5(BUB1):c.3003C>G (p.Gly1001=)	BUB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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