RRM2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 57125	GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3	ATP6V1C1, AZIN1 +92 more	Copy number gain	See cases	GPathogenic
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

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