RRM2B[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 331

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361124	NM_015713.5(RRM2B):c.*3593G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +2 more	GBenign
Select item 909664	NM_015713.5(RRM2B):c.*3577G>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361125	NM_015713.5(RRM2B):c.*3555T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GBenign
Select item 361126	NM_015713.5(RRM2B):c.*3527G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361127	NM_015713.5(RRM2B):c.*3489A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GBenign/Likely benign
Select item 910591	NM_015713.5(RRM2B):c.*3473A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361128	NM_015713.5(RRM2B):c.*3463C>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361129	NM_015713.5(RRM2B):c.*3395C>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +2 more	GBenign
Select item 361130	NM_015713.5(RRM2B):c.*3289A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361131	NM_015713.5(RRM2B):c.*3266G>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GUncertain significance
Select item 908867	NM_015713.5(RRM2B):c.*3250G>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GUncertain significance
Select item 361132	NM_015713.5(RRM2B):c.*3125T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 908868	NM_015713.5(RRM2B):c.*3118T>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361133	NM_015713.5(RRM2B):c.*3078G>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 361134	NM_015713.5(RRM2B):c.3003_3004del	RRM2B	Deletion (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GLikely benign
Select item 909724	NM_015713.5(RRM2B):c.*2995A>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 909725	NM_015713.5(RRM2B):c.*2991C>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361135	NM_015713.5(RRM2B):c.*2978A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361136	NM_015713.5(RRM2B):c.*2960G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 910647	NM_015713.5(RRM2B):c.*2885A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361137	NM_015713.5(RRM2B):c.*2879A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361138	NM_015713.5(RRM2B):c.*2822A>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 361139	NM_015713.5(RRM2B):c.*2809G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 911873	NM_015713.5(RRM2B):c.*2728G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361140	NM_015713.5(RRM2B):c.*2722A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361141	NM_015713.5(RRM2B):c.*2675A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +2 more	GBenign
Select item 361142	NM_015713.5(RRM2B):c.*2666T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +2 more	GBenign
Select item 361143	NM_015713.5(RRM2B):c.*2613del	RRM2B	Deletion (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 361144	NM_015713.5(RRM2B):c.*2513T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361145	NM_015713.5(RRM2B):c.*2492AAGTT[1]	RRM2B	Microsatellite (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GUncertain significance
Select item 361146	NM_015713.5(RRM2B):c.*2410C>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361147	NM_015713.5(RRM2B):c.*2328A>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions +1 more	GUncertain significance
Select item 361148	NM_015713.5(RRM2B):c.*2236A>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GBenign/Likely benign
Select item 361149	NM_015713.5(RRM2B):c.2151_2152insA	RRM2B	Insertion (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions +1 more	GLikely benign
Select item 361150	NM_015713.5(RRM2B):c.*2136G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361151	NM_015713.5(RRM2B):c.*2097T>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GBenign
Select item 361152	NM_015713.5(RRM2B):c.*2035A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GBenign
Select item 361153	NM_015713.5(RRM2B):c.*1953A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GBenign
Select item 361154	NM_015713.5(RRM2B):c.*1894dup	RRM2B	Duplication (3 prime UTR variant)	Mitochondrial DNA depletion syndrome +1 more	GBenign
Select item 909797	NM_015713.5(RRM2B):c.*1867C>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GBenign/Likely benign
Select item 361155	NM_015713.5(RRM2B):c.*1717T>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361156	NM_015713.5(RRM2B):c.*1673T>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 910701	NM_015713.5(RRM2B):c.*1664T>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361157	NM_015713.5(RRM2B):c.*1601A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361158	NM_015713.5(RRM2B):c.*1596T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GBenign/Likely benign
Select item 911923	NM_015713.5(RRM2B):c.*1552T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 911924	NM_015713.5(RRM2B):c.*1522A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 908996	NM_015713.5(RRM2B):c.*1510T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 361159	NM_015713.5(RRM2B):c.*1488G>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +2 more	GBenign
Select item 908997	NM_015713.5(RRM2B):c.*1451A>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GUncertain significance
Select item 361160	NM_015713.5(RRM2B):c.*1351T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 908998	NM_015713.5(RRM2B):c.*1337G>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361161	NM_015713.5(RRM2B):c.*1277A>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +2 more	GBenign
Select item 361162	NM_015713.5(RRM2B):c.*1121T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361163	NM_015713.5(RRM2B):c.*998A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 909862	NM_015713.5(RRM2B):c.*895G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361164	NM_015713.5(RRM2B):c.*869G>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361165	NM_015713.5(RRM2B):c.*866T>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361166	NM_015713.5(RRM2B):c.*855C>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361167	NM_015713.5(RRM2B):c.*817G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GConflicting classifications of pathogenicity
Select item 361168	NM_015713.5(RRM2B):c.*788T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GUncertain significance
Select item 361169	NM_015713.5(RRM2B):c.*732A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 361170	NM_015713.5(RRM2B):c.*552G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 909055	NM_015713.5(RRM2B):c.*485A>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 909056	NM_015713.5(RRM2B):c.*436A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361171	NM_015713.5(RRM2B):c.*328G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361172	NM_015713.5(RRM2B):c.*247G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 909057	NM_015713.5(RRM2B):c.*190T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +2 more	GBenign/Likely benign
Select item 361173	NM_015713.5(RRM2B):c.*74del	RRM2B	Deletion (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions +4 more	GUncertain significance
Select item 361174	NM_015713.5(RRM2B):c.*73A>T	RRM2B	Single nucleotide variant (3 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 361175	NM_015713.5(RRM2B):c.*11G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +2 more	GConflicting classifications of pathogenicity
Select item 559373	NM_015713.5(RRM2B):c.*4dup (p.Ter352=)	RRM2B	Duplication (no sequence alteration)	not provided	GLikely benign
Select item 132129	NM_015713.5(RRM2B):c.1046C>G (p.Ala349Gly)	RRM2B (A421G +1 more)	Single nucleotide variant (missense variant)	RRM2B-related mitochondrial disease	Gnot provided
Select item 2710173	NM_015713.5(RRM2B):c.1040T>G (p.Leu347Trp)	RRM2B (L347W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384037	NM_015713.5(RRM2B):c.1035C>T (p.Phe345=)	RRM2B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2969690	NM_015713.5(RRM2B):c.1031T>C (p.Val344Ala)	RRM2B (V416A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906954	NM_015713.5(RRM2B):c.1030G>A (p.Val344Ile)	RRM2B (V292I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624821	NM_015713.5(RRM2B):c.1029C>T (p.Asn343=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1908106	NM_015713.5(RRM2B):c.1028A>T (p.Asn343Ile)	RRM2B (N291I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031935	NM_015713.5(RRM2B):c.1022C>G (p.Thr341Arg)	RRM2B (T289R +2 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 8a	GUncertain significance
Select item 1548289	NM_015713.5(RRM2B):c.1014A>G (p.Ala338=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031934	NM_015713.5(RRM2B):c.1010T>A (p.Met337Lys)	RRM2B (M285K +2 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 8a	GUncertain significance
Select item 2700877	NM_015713.5(RRM2B):c.992A>G (p.Tyr331Cys)	RRM2B (Y279C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5391	NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)	RRM2B (R399* +1 more)	Single nucleotide variant (nonsense)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GPathogenic
Select item 30433	NM_015713.5(RRM2B):c.965dup (p.Asn322fs)	RRM2B (N394fs +2 more)	Duplication (frameshift variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	GPathogenic
Select item 1198184	NM_015713.5(RRM2B):c.962del (p.Thr321fs)	RRM2B (T269fs +2 more)	Deletion (frameshift variant)	RRM2B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1945168	NM_015713.5(RRM2B):c.957A>G (p.Gly319=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 132127	NM_015713.5(RRM2B):c.952G>T (p.Glu318Ter)	RRM2B (E390* +1 more)	Single nucleotide variant (nonsense)	RRM2B-related mitochondrial disease	Gnot provided
Select item 30432	NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer)	RRM2B	Deletion (nonsense)	Mitochondrial disease +1 more	GPathogenic
Select item 132125	NM_015713.5(RRM2B):c.949T>G (p.Leu317Val)	RRM2B (L389V +1 more)	Single nucleotide variant (missense variant)	RRM2B-related mitochondrial disease	Gnot provided
Select item 2072548	NM_015713.5(RRM2B):c.941del (p.Asn314fs)	RRM2B (N314fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2064259	NM_015713.5(RRM2B):c.940A>T (p.Asn314Tyr)	RRM2B (N314Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022502	NM_015713.5(RRM2B):c.927T>C (p.Phe309=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 132124	NM_015713.5(RRM2B):c.920del (p.Asn307fs)	RRM2B (N255fs +2 more)	Deletion (frameshift variant)	RRM2B-related mitochondrial disease	Gnot provided
Select item 361176	NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser)	RRM2B (A377S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1986917	NM_015713.5(RRM2B):c.904-9C>T	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805230	NM_015713.5(RRM2B):c.904-20A>C	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212026	NM_015713.5(RRM2B):c.904-248dup	RRM2B	Duplication (intron variant)	not provided	GLikely benign
Select item 1238768	NM_015713.5(RRM2B):c.904-248T>G	RRM2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186017	NM_015713.5(RRM2B):c.904-262C>G	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 4