BUB3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 2625368	NM_004725.4(BUB3):c.6C>G (p.Thr2=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1756598	NM_004725.4(BUB3):c.6C>T (p.Thr2=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1761596	NM_004725.4(BUB3):c.7G>A (p.Gly3Ser)	BUB3 (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1747033	NM_004725.4(BUB3):c.11C>G (p.Ser4Cys)	BUB3 (S4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776138	NM_004725.4(BUB3):c.15C>T (p.Asn5=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1793647	NM_004725.4(BUB3):c.25C>T (p.Leu9=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1793640	NM_004725.4(BUB3):c.25C>A (p.Leu9Met)	BUB3 (L9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1727610	NM_004725.4(BUB3):c.30C>T (p.Asn10=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1731027	NM_004725.4(BUB3):c.33G>A (p.Gln11=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1733066	NM_004725.4(BUB3):c.35C>A (p.Pro12Gln)	BUB3 (P12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496866	NM_004725.4(BUB3):c.36A>C (p.Pro12=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1734056	NM_004725.4(BUB3):c.36A>G (p.Pro12=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2496875	NM_004725.4(BUB3):c.37C>T (p.Pro13Ser)	BUB3 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1735037	NM_004725.4(BUB3):c.37C>A (p.Pro13Thr)	BUB3 (P13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563120	NM_004725.4(BUB3):c.38C>A (p.Pro13His)	BUB3 (P13H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448131	NM_004725.4(BUB3):c.39C>G (p.Pro13=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1736860	NM_004725.4(BUB3):c.39C>T (p.Pro13=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1737837	NM_004725.4(BUB3):c.40G>A (p.Glu14Lys)	BUB3 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224500	NM_004725.4(BUB3):c.41A>G (p.Glu14Gly)	BUB3 (E14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1742541	NM_004725.4(BUB3):c.46G>A (p.Gly16Ser)	BUB3 (G16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625367	NM_004725.4(BUB3):c.47G>T (p.Gly16Val)	BUB3 (G16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1747942	NM_004725.4(BUB3):c.54C>T (p.Ser18=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1749739	NM_004725.4(BUB3):c.57C>G (p.Ser19=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2621440	NM_004725.4(BUB3):c.66C>G (p.Phe22Leu)	BUB3, LOC130004885 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563122	NM_004725.4(BUB3):c.66C>A (p.Phe22Leu)	BUB3, LOC130004885 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1757646	NM_004725.4(BUB3):c.71C>G (p.Pro24Arg)	BUB3, LOC130004885 (P24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625362	NM_004725.4(BUB3):c.72C>A (p.Pro24=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1758182	NM_004725.4(BUB3):c.72C>G (p.Pro24=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2540231	NM_004725.4(BUB3):c.74A>G (p.Asn25Ser)	BUB3, LOC130004885 (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448134	NM_004725.4(BUB3):c.75C>T (p.Asn25=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760199	NM_004725.4(BUB3):c.76A>T (p.Thr26Ser)	BUB3, LOC130004885 (T26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760193	NM_004725.4(BUB3):c.76A>G (p.Thr26Ala)	BUB3, LOC130004885 (T26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496856	NM_004725.4(BUB3):c.78C>T (p.Thr26=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1762410	NM_004725.4(BUB3):c.81C>G (p.Ser27=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3224522	NM_004725.4(BUB3):c.83A>T (p.Gln28Leu)	LOC130004885, BUB3 (Q28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1763647	NM_004725.4(BUB3):c.84G>C (p.Gln28His)	BUB3, LOC130004885 (Q28H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1763642	NM_004725.4(BUB3):c.84G>A (p.Gln28=)	LOC130004885, BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3224524	NM_004725.4(BUB3):c.87C>T (p.Phe29=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563124	NM_004725.4(BUB3):c.87C>G (p.Phe29Leu)	BUB3, LOC130004885 (F29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496869	NM_004725.4(BUB3):c.88C>T (p.Leu30=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1765812	NM_004725.4(BUB3):c.90G>T (p.Leu30=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561577	NM_004725.4(BUB3):c.93T>G (p.Leu31=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1766849	NM_004725.4(BUB3):c.93T>A (p.Leu31=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2496879	NM_004725.4(BUB3):c.94G>A (p.Val32Ile)	BUB3, LOC130004885 (V32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1767880	NM_004725.4(BUB3):c.96C>T (p.Val32=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1767874	NM_004725.4(BUB3):c.96C>A (p.Val32=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625364	NM_004725.4(BUB3):c.98C>G (p.Ser33Cys)	BUB3, LOC130004885 (S33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1768883	NM_004725.4(BUB3):c.99C>T (p.Ser33=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1755024	NM_004725.4(BUB3):c.101C>T (p.Ser34Phe)	BUB3, LOC130004885 (S34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1754667	NM_004725.4(BUB3):c.101C>G (p.Ser34Cys)	BUB3, LOC130004885 (S34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1754430	NM_004725.4(BUB3):c.101C>A (p.Ser34Tyr)	BUB3, LOC130004885 (S34Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448137	NM_004725.4(BUB3):c.102C>G (p.Ser34=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1770666	NM_004725.4(BUB3):c.102C>T (p.Ser34=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1783068	NM_004725.4(BUB3):c.106G>C (p.Asp36His)	BUB3, LOC130004885 (D36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496889	NM_004725.4(BUB3):c.110C>T (p.Thr37Met)	BUB3, LOC130004885 (T37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496885	NM_004725.4(BUB3):c.111G>A (p.Thr37=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1730788	NM_004725.4(BUB3):c.113C>T (p.Ser38Phe)	BUB3, LOC130004885 (S38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1733559	NM_004725.4(BUB3):c.114C>T (p.Ser38=)	LOC130004885, BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1733491	NM_004725.4(BUB3):c.114C>G (p.Ser38=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1736406	NM_004725.4(BUB3):c.115G>C (p.Val39Leu)	BUB3, LOC130004885 (V39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1736334	NM_004725.4(BUB3):c.115G>A (p.Val39Met)	BUB3, LOC130004885 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1741899	NM_004725.4(BUB3):c.117G>T (p.Val39=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1744484	NM_004725.4(BUB3):c.118C>G (p.Arg40Gly)	BUB3, LOC130004885 (R40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746886	NM_004725.4(BUB3):c.119G>A (p.Arg40His)	BUB3, LOC130004885 (R40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1750080	NM_004725.4(BUB3):c.120T>C (p.Arg40=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1752643	NM_004725.4(BUB3):c.121C>G (p.Leu41Val)	BUB3, LOC130004885 (L41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760474	NM_004725.4(BUB3):c.124T>C (p.Tyr42His)	BUB3, LOC130004885 (Y42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764990	NM_004725.4(BUB3):c.126C>T (p.Tyr42=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560426	NM_004725.4(BUB3):c.128A>G (p.Asp43Gly)	BUB3, LOC130004885 (D43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224488	NM_004725.4(BUB3):c.129T>C (p.Asp43=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448139	NM_004725.4(BUB3):c.129T>A (p.Asp43Glu)	BUB3, LOC130004885 (D43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770566	NM_004725.4(BUB3):c.134C>T (p.Pro45Leu)	BUB3, LOC130004885 (P45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770563	NM_004725.4(BUB3):c.134C>G (p.Pro45Arg)	BUB3, LOC130004885 (P45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1770562	NM_004725.4(BUB3):c.134C>A (p.Pro45Gln)	BUB3, LOC130004885 (P45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3224489	NM_004725.4(BUB3):c.135G>A (p.Pro45=)	BUB3, LOC130004885	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2496851	NM_004725.4(BUB3):c.136G>C (p.Ala46Pro)	BUB3 (A46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496827	NM_004725.4(BUB3):c.137C>T (p.Ala46Val)	BUB3 (A46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1771496	NM_004725.4(BUB3):c.138C>G (p.Ala46=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1771711	NM_004725.4(BUB3):c.139A>G (p.Asn47Asp)	BUB3 (N47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496881	NM_004725.4(BUB3):c.140A>G (p.Asn47Ser)	BUB3 (N47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1772218	NM_004725.4(BUB3):c.141C>T (p.Asn47=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3224490	NM_004725.4(BUB3):c.144C>T (p.Ser48=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1772886	NM_004725.4(BUB3):c.144C>G (p.Ser48=)	BUB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1773116	NM_004725.4(BUB3):c.145A>T (p.Met49Leu)	BUB3 (M49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1773112	NM_004725.4(BUB3):c.145A>C (p.Met49Leu)	BUB3 (M49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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