Ndufb3 Variant Search Result - Rat Genome Database

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42 records found for search term Ndufb3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8568319	CV39351	single nucleotide variant	NDUFB3, TRP22ARG	Mitochondrial complex I deficiency [RCV000023347]	pathogenic				Human		name
127294046	CV1153945	duplication	NM_002491.3(NDUFB3):c.141-5dup	not provided [RCV001511592]	benign	2	201085443	201085444	Human		name
13541658	CV499905	deletion	NM_002491.3(NDUFB3):c.141-5del	not provided [RCV001704823]	benign	2	201085444	201085444	Human		name
150434926	CV1216012	microsatellite	NM_002491.3(NDUFB3):c.*119AT[7]	not provided [RCV001609202]	benign	2	201085733	201085734	Human		name
150446229	CV1278284	single nucleotide variant	NM_002491.3(NDUFB3):c.-2-307A>G	not provided [RCV001707427]	benign	2	201078574	201078574	Human		name
152146824	CV1545794	single nucleotide variant	NM_002491.3(NDUFB3):c.140+13A>C	not provided [RCV002157562]	likely benign	2	201079035	201079035	Human		name
12839920	CV366063	single nucleotide variant	NM_002491.3(NDUFB3):c.-3+316A>G	not specified [RCV000429711]	benign	2	201072375	201072375	Human		name
12833918	CV366855	single nucleotide variant	NM_002491.3(NDUFB3):c.-3+266T>C	not specified [RCV000419410]	benign	2	201072325	201072325	Human		name
597947340	CV3817883	single nucleotide variant	NM_002491.3(NDUFB3):c.140+10A>T	not provided [RCV005160350]	likely benign	2	201079032	201079032	Human		name
14728575	CV658725	single nucleotide variant	NM_002491.3(NDUFB3):c.-2-173A>G	not provided [RCV000834838]	benign	2	201078708	201078708	Human		name
14721893	CV658737	single nucleotide variant	NM_002491.3(NDUFB3):c.140+251C>T	not provided [RCV000831867]	likely benign	2	201079273	201079273	Human		name
155952357	CV2043788	duplication	NM_002491.3(NDUFB3):c.141-6_141-5dup	not provided [RCV002775840]	benign	2	201085443	201085444	Human		name
13538971	CV499870	single nucleotide variant	NM_002491.3(NDUFB3):c.12A>G (p.Glu4=)	not provided [RCV002529665]\|not specified [RCV000612629]	likely benign	2	201078894	201078894	Human		name
243054230	CV2418500	single nucleotide variant	NM_002491.3(NDUFB3):c.9T>A (p.His3Gln)	not provided [RCV003154505]	uncertain significance	2	201078891	201078891	Human		name
12912681	CV421354	single nucleotide variant	NM_002491.3(NDUFB3):c.4G>A (p.Ala2Thr)	Inborn genetic diseases [RCV004023302]\|not provided [RCV000492892]	uncertain significance	2	201078886	201078886	Human	1	name
155956178	CV1936351	single nucleotide variant	NM_002491.3(NDUFB3):c.288G>A (p.Lys96=)	not provided [RCV002512015]	likely benign	2	201085606	201085606	Human		name
156393827	CV2019336	single nucleotide variant	NM_002491.3(NDUFB3):c.13C>T (p.His5Tyr)	Inborn genetic diseases [RCV004958712]\|not provided [RCV002725327]	uncertain significance	2	201078895	201078895	Human	1	name
155941426	CV2038265	single nucleotide variant	NM_002491.3(NDUFB3):c.20A>C (p.His7Pro)	not provided [RCV002775219]	uncertain significance	2	201078902	201078902	Human		name
10409345	CV210732	single nucleotide variant	NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)	not provided [RCV000195930]	conflicting interpretations of pathogenicity\|uncertain significance	2	201078901	201078901	Human		name
156158264	CV2314519	single nucleotide variant	NM_002491.3(NDUFB3):c.15T>G (p.His5Gln)	Inborn genetic diseases [RCV002915820]	uncertain significance	2	201078897	201078897	Human	1	name
151779737	CV1491804	single nucleotide variant	NM_002491.3(NDUFB3):c.55T>G (p.Tyr19Asp)	not provided [RCV002046045]	uncertain significance	2	201078937	201078937	Human		name
152045910	CV1670355	single nucleotide variant	NM_002491.3(NDUFB3):c.61C>T (p.Gln21Ter)	Mitochondrial complex 1 deficiency, nuclear type 25 [RCV002225207]	likely pathogenic	2	201078943	201078943	Human	1	name
155705663	CV1771402	single nucleotide variant	NM_002491.3(NDUFB3):c.88G>A (p.Glu30Lys)	not provided [RCV002295868]	uncertain significance	2	201078970	201078970	Human		name
155722125	CV1781348	single nucleotide variant	NM_002491.3(NDUFB3):c.75A>C (p.Glu25Asp)	not provided [RCV002306424]	uncertain significance	2	201078957	201078957	Human		name
156010917	CV2362183	single nucleotide variant	NM_002491.3(NDUFB3):c.96C>G (p.Ile32Met)	Inborn genetic diseases [RCV002997810]	uncertain significance	2	201078978	201078978	Human	1	name
11526086	CV246907	single nucleotide variant	NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	Inborn genetic diseases [RCV000624796]\|Mitochondrial complex 1 deficiency, nuclear type 25 [RCV000735413]\|Mitochondrial complex I deficiency [RCV000504444]\|not provided [RCV000239318]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	201078946	201078946	Human	3	name
13531139	CV511388	deletion	NM_002491.3(NDUFB3):c.200del (p.Phe67fs)	Inborn genetic diseases [RCV000623076]	pathogenic	2	201085517	201085517	Human	1	name
21067975	CV795114	deletion	NM_002491.3(NDUFB3):c.201del (p.Phe68fs)	not provided [RCV000997642]	likely pathogenic	2	201085519	201085519	Human		name
126910813	CV1037121	single nucleotide variant	NM_002491.3(NDUFB3):c.177G>C (p.Lys59Asn)	not provided [RCV001354718]	uncertain significance	2	201085495	201085495	Human		name
150507899	CV1244681	single nucleotide variant	NM_002491.3(NDUFB3):c.257A>G (p.Tyr86Cys)	not provided [RCV001658930]	uncertain significance	2	201085575	201085575	Human		name
156409473	CV1922697	single nucleotide variant	NM_002491.3(NDUFB3):c.103A>C (p.Lys35Gln)	not provided [RCV002607566]	uncertain significance	2	201078985	201078985	Human		name
156174248	CV1968509	single nucleotide variant	NM_002491.3(NDUFB3):c.235G>A (p.Val79Met)	not provided [RCV002594865]	uncertain significance	2	201085553	201085553	Human		name
156096894	CV2132088	single nucleotide variant	NM_002491.3(NDUFB3):c.218G>T (p.Trp73Leu)	not provided [RCV003002060]	uncertain significance	2	201085536	201085536	Human		name
156331985	CV2220606	single nucleotide variant	NM_002491.3(NDUFB3):c.139C>A (p.Arg47Ser)	Inborn genetic diseases [RCV002718101]	uncertain significance	2	201079021	201079021	Human	1	name
596931352	CV3531688	single nucleotide variant	NM_002491.3(NDUFB3):c.241G>T (p.Ala81Ser)	not provided [RCV004781250]	uncertain significance	2	201085559	201085559	Human		name
12913622	CV421355	single nucleotide variant	NM_002491.3(NDUFB3):c.163G>A (p.Gly55Ser)	Inborn genetic diseases [RCV003380592]\|not provided [RCV000494046]	uncertain significance	2	201085481	201085481	Human	1	name
13487382	CV443138	single nucleotide variant	NM_002491.3(NDUFB3):c.163G>C (p.Gly55Arg)	not provided [RCV000523208]	uncertain significance	2	201085481	201085481	Human		name
8604392	CV48435	single nucleotide variant	NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)	Inborn genetic diseases [RCV000624112]\|Mitochondrial complex 1 deficiency, nuclear type 25 [RCV000033057]\|not provided [RCV000412836]\|not specified [RCV005417443]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	201085526	201085526	Human	2	name
13790221	CV549887	single nucleotide variant	NM_002491.3(NDUFB3):c.182T>C (p.Val61Ala)	Inborn genetic diseases [RCV002544684]\|not provided [RCV000677088]	uncertain significance	2	201085500	201085500	Human	1	name
21069363	CV792692	single nucleotide variant	NM_002491.3(NDUFB3):c.136G>A (p.Gly46Ser)	Developmental cataract [RCV000991317]\|Inborn genetic diseases [RCV004958353]	uncertain significance	2	201079018	201079018	Human	7	name
151723218	CV1511860	deletion	NM_002491.3(NDUFB3):c.22_33del (p.4EHGH[1])	not provided [RCV002003952]	uncertain significance	2	201078895	201078906	Human		name
153345688	CV1691328	deletion	NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer)	Mitochondrial complex 1 deficiency, nuclear type 25 [RCV002272809]	pathogenic	2	201078996	201078996	Human	1	name

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