Bola3 Variant Search Result - Rat Genome Database

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95 records found for search term Bola3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11661695	CV287948	single nucleotide variant	NM_212552.3(BOLA3):c.-8G>A	Multiple mitochondrial dysfunctions syndrome 2 [RCV000379214]	uncertain significance	2	74147882	74147882	Human	1	name
11646742	CV287947	single nucleotide variant	NM_212552.3(BOLA3):c.*31T>C	Multiple mitochondrial dysfunctions syndrome 2 [RCV000272412]	uncertain significance	2	74135562	74135562	Human	1	name
11582670	CV287950	single nucleotide variant	NM_212552.3(BOLA3):c.-35C>T	Multiple mitochondrial dysfunctions syndrome 2 [RCV000261333]	uncertain significance	2	74147909	74147909	Human	1	name
156256042	CV1977342	single nucleotide variant	NM_212552.3(BOLA3):c.54+3G>A	not provided [RCV002597626]	uncertain significance	2	74147818	74147818	Human		name
11659903	CV290538	single nucleotide variant	NM_212552.3(BOLA3):c.*190G>A	Multiple mitochondrial dysfunctions syndrome 2 [RCV000362134]	uncertain significance	2	74135403	74135403	Human	1	name
14731791	CV659491	single nucleotide variant	NM_212552.2(BOLA3):c.-164G>C	not provided [RCV000836296]	likely benign	2	74148038	74148038	Human		name
28899041	CV885458	single nucleotide variant	NM_212552.3(BOLA3):c.*134T>C	Multiple mitochondrial dysfunctions syndrome 2 [RCV001142216]	uncertain significance	2	74135459	74135459	Human	1	name
150444597	CV1249441	single nucleotide variant	NM_212552.3(BOLA3):c.54+46G>A	not provided [RCV001666873]	benign	2	74147775	74147775	Human		name
150441063	CV1265501	single nucleotide variant	NM_212552.3(BOLA3):c.54+64C>T	not provided [RCV001679204]	benign	2	74147757	74147757	Human		name
152072315	CV1551624	single nucleotide variant	NM_212552.3(BOLA3):c.54+16G>A	not provided [RCV002075272]	likely benign	2	74147805	74147805	Human		name
156220315	CV2015468	single nucleotide variant	NM_212552.3(BOLA3):c.54+15G>A	not provided [RCV002700981]	likely benign	2	74147806	74147806	Human		name
155942196	CV2032330	single nucleotide variant	NM_212552.3(BOLA3):c.54+19G>A	not provided [RCV002730191]	likely benign	2	74147802	74147802	Human		name
401797443	CV2742114	single nucleotide variant	NM_212552.3(BOLA3):c.259-1G>C	Multiple mitochondrial dysfunctions syndrome 2 [RCV003324292]	likely pathogenic	2	74135659	74135659	Human	1	name
12844426	CV366784	single nucleotide variant	NM_212552.3(BOLA3):c.258+9A>C	Multiple mitochondrial dysfunctions syndrome 2 [RCV001142217]\|not provided [RCV000677025]\|not specified [RCV000437970]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	74142263	74142263	Human	1	name
13540580	CV499947	single nucleotide variant	NM_212552.3(BOLA3):c.54+12C>G	not provided [RCV002064366]\|not specified [RCV000614894]	benign\|likely benign	2	74147809	74147809	Human		name
150422920	CV1179586	single nucleotide variant	NM_212552.3(BOLA3):c.169+26G>A	not provided [RCV001553306]	likely benign	2	74145163	74145163	Human		name
150417609	CV1196973	single nucleotide variant	NM_212552.3(BOLA3):c.54+294A>G	not provided [RCV001576370]	likely benign	2	74147527	74147527	Human		name
8690283	CV140233	single nucleotide variant	NM_212552.3(BOLA3):c.259-18T>G	not provided [RCV002055430]\|not specified [RCV000123864]	benign	2	74135676	74135676	Human		name
152028811	CV1555536	single nucleotide variant	NM_212552.3(BOLA3):c.170-11G>A	not provided [RCV002185960]	likely benign	2	74142371	74142371	Human		name
152089786	CV1654732	single nucleotide variant	NM_212552.3(BOLA3):c.259-19A>T	not provided [RCV002212566]	likely benign	2	74135677	74135677	Human		name
156327820	CV1990682	single nucleotide variant	NM_212552.3(BOLA3):c.169+14C>T	not provided [RCV002630754]	likely benign	2	74145175	74145175	Human		name
405178726	CV3151044	single nucleotide variant	NM_212552.3(BOLA3):c.169+17T>C	not provided [RCV003842128]	likely benign	2	74145172	74145172	Human		name
12836548	CV367940	single nucleotide variant	NM_212552.3(BOLA3):c.169+14C>A	not provided [RCV003766307]\|not specified [RCV000423585]	likely benign	2	74145175	74145175	Human		name
14734023	CV659364	single nucleotide variant	NM_212552.3(BOLA3):c.169+28C>T	not provided [RCV000837363]	likely benign	2	74145161	74145161	Human		name
14745622	CV659365	single nucleotide variant	NM_212552.3(BOLA3):c.54+307G>A	not provided [RCV000843569]	benign	2	74147514	74147514	Human	1	name
14745622	CV659365	single nucleotide variant	NM_212552.3(BOLA3):c.54+307G>A	not provided [RCV000843569]	benign	2	74147514	74147515	Human	1	name
14745625	CV659486	single nucleotide variant	NM_212552.3(BOLA3):c.55-248T>G	not provided [RCV000843572]	benign	2	74145551	74145551	Human		name
14724344	CV659487	single nucleotide variant	NM_212552.3(BOLA3):c.55-322A>G	not provided [RCV000832942]	likely benign	2	74145625	74145625	Human		name
150339167	CV1167257	single nucleotide variant	NM_212552.3(BOLA3):c.169+101G>A	not provided [RCV001534082]	benign	2	74145088	74145088	Human		name
150466584	CV1255763	duplication	NM_212552.3(BOLA3):c.259-309dup	not provided [RCV001670397]	benign	2	74135948	74135949	Human		name
150488991	CV1265336	deletion	NM_212552.3(BOLA3):c.259-291del	not provided [RCV001687372]	benign	2	74135949	74135949	Human		name
150440706	CV1266957	single nucleotide variant	NM_212552.3(BOLA3):c.259-299A>C	not provided [RCV001690393]	benign	2	74135957	74135957	Human		name
14713999	CV659356	single nucleotide variant	NM_212552.3(BOLA3):c.259-205A>T	not provided [RCV000828880]	benign	2	74135863	74135863	Human		name
14745629	CV659357	single nucleotide variant	NM_212552.3(BOLA3):c.258+248T>A	not provided [RCV000843576]	benign	2	74142024	74142024	Human		name
14730524	CV659358	single nucleotide variant	NM_212552.3(BOLA3):c.169+141C>T	not provided [RCV000835723]	benign	2	74145048	74145048	Human		name
14745628	CV659479	single nucleotide variant	NM_212552.3(BOLA3):c.169+321C>T	not provided [RCV000843575]	benign	2	74144868	74144868	Human	2	name
14745628	CV659479	single nucleotide variant	NM_212552.3(BOLA3):c.169+321C>T	not provided [RCV000843575]	benign	2	74144868	74144869	Human	2	name
13539838	CV500351	single nucleotide variant	NM_212552.3(BOLA3):c.9A>G (p.Ala3=)	not provided [RCV002063068]\|not specified [RCV000613821]	likely benign	2	74147866	74147866	Human		name
28885289	CV885459	single nucleotide variant	NM_212552.3(BOLA3):c.21C>T (p.Ala7=)	Multiple mitochondrial dysfunctions syndrome 2 [RCV001137475]	uncertain significance	2	74147854	74147854	Human	1	name
150335398	CV1165629	single nucleotide variant	NM_212552.3(BOLA3):c.57T>G (p.Leu19=)	not provided [RCV001531489]	likely benign	2	74145301	74145301	Human		name
151825774	CV1393816	single nucleotide variant	NM_212552.3(BOLA3):c.54G>C (p.Gly18=)	not provided [RCV002030323]	uncertain significance	2	74147821	74147821	Human		name
10411299	CV210906	single nucleotide variant	NM_212552.3(BOLA3):c.45G>T (p.Gly15=)	BOLA3-related disorder [RCV003907730]\|Multiple mitochondrial dysfunctions syndrome 2 [RCV002503768]\|not provided [RCV002054321]\|not specified [RCV000199983]	benign\|likely benign	2	74147830	74147830	Human	1	name , trait , alternate_id
597843560	CV3735939	single nucleotide variant	NM_212552.3(BOLA3):c.54G>A (p.Gly18=)	not provided [RCV005065288]	uncertain significance	2	74147821	74147821	Human		name
15177445	CV763433	single nucleotide variant	NM_212552.3(BOLA3):c.93G>A (p.Glu31=)	not provided [RCV000929158]	likely benign	2	74145265	74145265	Human		name
126762131	CV1004252	single nucleotide variant	NM_212552.3(BOLA3):c.14G>T (p.Ser5Ile)	not provided [RCV001318843]	uncertain significance	2	74147861	74147861	Human		name
127288349	CV1152085	single nucleotide variant	NM_212552.3(BOLA3):c.20C>T (p.Ala7Val)	not provided [RCV001508444]	uncertain significance	2	74147855	74147855	Human		name
152111409	CV1618384	single nucleotide variant	NM_212552.3(BOLA3):c.141T>C (p.Ala47=)	not provided [RCV002080302]	likely benign	2	74145217	74145217	Human		name
156281427	CV2220540	single nucleotide variant	NM_212552.3(BOLA3):c.22G>A (p.Ala8Thr)	Inborn genetic diseases [RCV002747126]	uncertain significance	2	74147853	74147853	Human	1	name
401772399	CV2712708	single nucleotide variant	NM_212552.3(BOLA3):c.26C>T (p.Ala9Val)	Inborn genetic diseases [RCV003261831]	uncertain significance	2	74147849	74147849	Human	1	name
598250892	CV3942366	single nucleotide variant	NM_212552.3(BOLA3):c.282G>A (p.Glu94=)	Inborn genetic diseases [RCV005298411]	likely benign	2	74135635	74135635	Human	1	name
28885294	CV885460	single nucleotide variant	NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr)	Multiple mitochondrial dysfunctions syndrome 2 [RCV001137476]\|not provided [RCV001655684]	benign\|uncertain significance	2	74147856	74147856	Human	1	name
126746327	CV1016106	single nucleotide variant	NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu)	Multiple mitochondrial dysfunctions syndrome 2 [RCV001330858]\|not provided [RCV002546418]	uncertain significance	2	74145282	74145282	Human	1	name
150491154	CV1210319	duplication	NM_212552.3(BOLA3):c.259-309_259-307dup	not provided [RCV001592601]	likely benign	2	74135948	74135949	Human		name
150477491	CV1262509	duplication	NM_212552.3(BOLA3):c.259-309_259-308dup	not provided [RCV001685322]	benign	2	74135948	74135949	Human		name
150550078	CV1300042	single nucleotide variant	NM_212552.3(BOLA3):c.70C>T (p.Arg24Trp)	not provided [RCV001765512]	uncertain significance	2	74145288	74145288	Human		name
151830460	CV1379080	single nucleotide variant	NM_212552.3(BOLA3):c.82A>G (p.Thr28Ala)	not provided [RCV001935005]	uncertain significance	2	74145276	74145276	Human		name
156318582	CV1965882	single nucleotide variant	NM_212552.3(BOLA3):c.89C>A (p.Thr30Asn)	Inborn genetic diseases [RCV003289531]\|not provided [RCV002600092]	uncertain significance	2	74145269	74145269	Human	1	name
10410498	CV210905	single nucleotide variant	NM_212552.3(BOLA3):c.71G>A (p.Arg24Gln)	Inborn genetic diseases [RCV004970635]\|not provided [RCV001980112]	uncertain significance	2	74145287	74145287	Human	1	name
156132171	CV2113068	single nucleotide variant	NM_212552.3(BOLA3):c.49C>T (p.Arg17Cys)	not provided [RCV002928243]	uncertain significance	2	74147826	74147826	Human		name
156312876	CV2143808	single nucleotide variant	NM_212552.3(BOLA3):c.93G>C (p.Glu31Asp)	not provided [RCV003011216]	uncertain significance	2	74145265	74145265	Human		name
243063629	CV2409520	single nucleotide variant	NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)	Multiple mitochondrial dysfunctions syndrome 2 [RCV003141662]	uncertain significance	2	74145276	74145276	Human	1	name
401741211	CV2680571	single nucleotide variant	NM_212552.3(BOLA3):c.32C>T (p.Pro11Leu)	Inborn genetic diseases [RCV003240837]	uncertain significance	2	74147843	74147843	Human	1	name
405111100	CV2903016	single nucleotide variant	NM_212552.3(BOLA3):c.306C>T (p.Thr102=)	not provided [RCV003557905]	likely benign	2	74135611	74135611	Human		name
402520993	CV3000411	single nucleotide variant	NM_212552.3(BOLA3):c.312C>T (p.Val104=)	not provided [RCV003716429]	likely benign	2	74135605	74135605	Human		name
405763830	CV3301912	single nucleotide variant	NM_212552.3(BOLA3):c.40C>T (p.Arg14Cys)	Inborn genetic diseases [RCV004434093]	uncertain significance	2	74147835	74147835	Human	1	name
8568733	CV39977	duplication	NM_212552.3(BOLA3):c.123dup (p.Glu42fs)	Multiple mitochondrial dysfunctions syndrome 2 [RCV000024012]	pathogenic	2	74145234	74145235	Human	1	name
126746319	CV1016105	single nucleotide variant	NM_212552.3(BOLA3):c.131T>G (p.Phe44Cys)	Multiple mitochondrial dysfunctions syndrome 2 [RCV001330856]	uncertain significance	2	74145227	74145227	Human	1	name
127288347	CV1152084	single nucleotide variant	NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln)	Inborn genetic diseases [RCV002564244]\|Multiple mitochondrial dysfunctions syndrome 2 [RCV002476810]\|not provided [RCV001508443]	uncertain significance	2	74135621	74135621	Human	2	name
150416769	CV1179585	single nucleotide variant	NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr)	BOLA3-related disorder [RCV003394135]\|Multiple mitochondrial dysfunctions syndrome 2 [RCV001658282]\|not provided [RCV001549815]	pathogenic\|likely pathogenic	2	74142354	74142354	Human	1	name , trait , alternate_id
151737896	CV1469479	single nucleotide variant	NM_212552.3(BOLA3):c.187T>A (p.Tyr63Asn)	not provided [RCV002041923]	uncertain significance	2	74142343	74142343	Human		name
152978704	CV1671759	single nucleotide variant	NM_212552.3(BOLA3):c.253A>G (p.Asn85Asp)	Multiple mitochondrial dysfunctions syndrome 2 [RCV002227858]	uncertain significance	2	74142277	74142277	Human	1	name
155913026	CV1935396	single nucleotide variant	NM_212552.3(BOLA3):c.170G>A (p.Gly57Glu)	Multiple mitochondrial dysfunctions syndrome 2 [RCV002510729]	uncertain significance	2	74142360	74142360	Human	1	name
156349620	CV1978176	single nucleotide variant	NM_212552.3(BOLA3):c.188A>T (p.Tyr63Phe)	not provided [RCV002601729]	uncertain significance	2	74142342	74142342	Human		name
156101924	CV2001138	single nucleotide variant	NM_212552.3(BOLA3):c.164T>C (p.Ile55Thr)	not provided [RCV002639614]	uncertain significance	2	74145194	74145194	Human		name
156256161	CV2041267	single nucleotide variant	NM_212552.3(BOLA3):c.146C>A (p.Ala49Asp)	not provided [RCV002806174]	uncertain significance	2	74145212	74145212	Human		name
155989759	CV2151187	single nucleotide variant	NM_212552.3(BOLA3):c.142A>G (p.Thr48Ala)	not provided [RCV003016770]	uncertain significance	2	74145216	74145216	Human		name
156208374	CV2160316	single nucleotide variant	NM_212552.3(BOLA3):c.268G>A (p.Glu90Lys)	not provided [RCV003042238]	uncertain significance	2	74135649	74135649	Human		name
156174944	CV2194475	single nucleotide variant	NM_212552.3(BOLA3):c.283A>G (p.Met95Val)	Inborn genetic diseases [RCV002664953]	uncertain significance	2	74135634	74135634	Human	1	name
11050629	CV226292	single nucleotide variant	NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)	Multiple mitochondrial dysfunctions syndrome 2 [RCV000210081]\|not provided [RCV001568158]	pathogenic	2	74145222	74145222	Human	1	name
401856586	CV2752575	single nucleotide variant	NM_212552.3(BOLA3):c.295C>T (p.Arg99Trp)	Multiple mitochondrial dysfunctions syndrome 2 [RCV003340913]	uncertain significance	2	74135622	74135622	Human	1	name
11594397	CV287256	single nucleotide variant	NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu)	Inborn genetic diseases [RCV004021818]\|Multiple mitochondrial dysfunctions syndrome 2 [RCV000358825]\|not provided [RCV001850814]	uncertain significance	2	74142274	74142274	Human	2	name
11583203	CV290556	single nucleotide variant	NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr)	Multiple mitochondrial dysfunctions syndrome 2 [RCV000264913]	uncertain significance	2	74142349	74142349	Human	1	name
11591020	CV290565	single nucleotide variant	NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)	BOLA3-related disorder [RCV003957737]\|Multiple mitochondrial dysfunctions syndrome 2 [RCV000324798]\|not provided [RCV002051844]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	74145221	74145221	Human	1	name , trait , alternate_id
408391148	CV3521227	single nucleotide variant	NM_212552.3(BOLA3):c.163A>G (p.Ile55Val)	Inborn genetic diseases [RCV004968630]\|not provided [RCV004763049]	uncertain significance	2	74145195	74145195	Human	1	name
597637169	CV3643265	single nucleotide variant	NM_212552.3(BOLA3):c.275T>C (p.Ile92Thr)	Inborn genetic diseases [RCV004970103]	uncertain significance	2	74135642	74135642	Human	1	name
598127096	CV3882457	single nucleotide variant	NM_212552.3(BOLA3):c.244C>G (p.Gln82Glu)	not provided [RCV005234009]	uncertain significance	2	74142286	74142286	Human		name
616938058	CV4013875	single nucleotide variant	NM_212552.3(BOLA3):c.258G>C (p.Gln86His)	Multiple mitochondrial dysfunctions syndrome 2 [RCV005413367]	uncertain significance	2	74142272	74142272	Human	1	name
25322110	CV804904	single nucleotide variant	NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)	Multiple mitochondrial dysfunctions syndrome 2 [RCV001007641]\|not provided [RCV001664619]	pathogenic\|likely pathogenic	2	74142330	74142330	Human	1	name
126746322	CV1016104	single nucleotide variant	NM_212552.3(BOLA3):c.317A>G (p.Lys106Arg)	Multiple mitochondrial dysfunctions syndrome 2 [RCV001330857]	uncertain significance	2	74135600	74135600	Human	1	name
151797884	CV1352667	single nucleotide variant	NM_212552.3(BOLA3):c.320G>A (p.Arg107His)	Inborn genetic diseases [RCV002551628]\|not provided [RCV001877109]	uncertain significance	2	74135597	74135597	Human	1	name
151887200	CV1471917	single nucleotide variant	NM_212552.3(BOLA3):c.298A>G (p.Ile100Val)	Inborn genetic diseases [RCV002579656]\|not provided [RCV002000836]	uncertain significance	2	74135619	74135619	Human	1	name
10409582	CV210904	single nucleotide variant	NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys)	BOLA3-related disorder [RCV003937729]\|Multiple mitochondrial dysfunctions syndrome 2 [RCV000308758]\|not provided [RCV000196408]	likely benign\|uncertain significance	2	74135598	74135598	Human	1	name , trait , alternate_id
243063630	CV2409519	microsatellite	NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)	Multiple mitochondrial dysfunctions syndrome 2 [RCV003141661]	uncertain significance	2	74135608	74135609	Human		name
25322670	CV805142	deletion	NM_212552.3(BOLA3):c.220_222del (p.Glu74del)	Multiple mitochondrial dysfunctions syndrome 2 [RCV001007956]	pathogenic\|likely pathogenic	2	74142308	74142310	Human	1	name
155913697	CV2091547	duplication	NM_212552.3(BOLA3):c.46_54dup (p.Gly18_Leu19insIleArgGly)	not provided [RCV002902940]	uncertain significance	2	74147820	74147821	Human		name

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