ClinVar for Gene (Select 50484) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362612	NM_015713.5(RRM2B):c.184del (p.Ser62fs)	RRM2B (S134fs +1 more)	Deletion (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 8a	GLikely pathogenic
Select item 3358299	NM_015713.5(RRM2B):c.205-4C>T	RRM2B	Single nucleotide variant (intron variant)	RRM2B-related disorder	GLikely benign
Select item 3340725	NM_015713.5(RRM2B):c.48+148C>A	RRM2B (C48*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3251086	NM_015713.5(RRM2B):c.875_876del (p.Arg292fs)	RRM2B (R240fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3250467	NM_015713.5(RRM2B):c.540del (p.Lys180fs)	RRM2B (K128fs +2 more)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 8a	GLikely pathogenic
Select item 3250411	NM_015713.5(RRM2B):c.306T>G (p.Ile102Met)	RRM2B (I102M +2 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 8a	GUncertain significance
Select item 3245584	NC_000008.10:g.(?_103231022)_(103251102_?)dup	RRM2B	Duplication	not provided	GUncertain significance
Select item 3156462	NM_015713.5(RRM2B):c.484A>G (p.Met162Val)	RRM2B (M162V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068322	NM_015713.5(RRM2B):c.49-2A>G	RRM2B	Single nucleotide variant (splice acceptor variant +1 more)	Mitochondrial DNA depletion syndrome 8a	GLikely pathogenic
Select item 3064800	NM_015713.5(RRM2B):c.94G>T (p.Glu32Ter)	RRM2B (E104* +1 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 8a	GLikely pathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3062047	NM_015713.5(RRM2B):c.472G>A (p.Ala158Thr)	RRM2B (A106T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 8a	GLikely pathogenic
Select item 3057816	NM_015713.5(RRM2B):c.735G>A (p.Lys245=)	RRM2B	Single nucleotide variant (synonymous variant)	RRM2B-related disorder	GLikely benign
Select item 3046501	NM_015713.5(RRM2B):c.48+247C>T	RRM2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3043502	NM_015713.5(RRM2B):c.204+4C>T	RRM2B	Single nucleotide variant (intron variant)	RRM2B-related disorder	GLikely benign
Select item 3043020	NM_015713.5(RRM2B):c.48+169C>T	RRM2B	Single nucleotide variant (synonymous variant +1 more)	RRM2B-related disorder	GLikely benign
Select item 3035910	NM_015713.5(RRM2B):c.48+97dup	RRM2B (S32fs)	Duplication (frameshift variant +1 more)	RRM2B-related disorder	GUncertain significance
Select item 3026206	NM_015713.5(RRM2B):c.48+63T>C	RRM2B (L20S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022954	NM_015713.5(RRM2B):c.48+18G>A	LOC130000896, RRM2B (R5H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3020260	NM_015713.5(RRM2B):c.561G>T (p.Val187=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011623	NM_015713.5(RRM2B):c.177A>G (p.Ala59=)	RRM2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011100	NM_015713.5(RRM2B):c.204+10A>G	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008756	NM_015713.5(RRM2B):c.307G>T (p.Val103Leu)	RRM2B (V103L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997263	NM_015713.5(RRM2B):c.237C>T (p.Asn79=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992681	NM_015713.5(RRM2B):c.769G>A (p.Asp257Asn)	RRM2B (D205N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986020	NM_015713.5(RRM2B):c.446C>T (p.Pro149Leu)	RRM2B (P97L +2 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 2982857	NM_015713.5(RRM2B):c.246A>G (p.Lys82=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969816	NM_015713.5(RRM2B):c.456-18A>G	RRM2B	Single nucleotide variant (intron variant)	not provided	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 2966802	NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)	RRM2B (W125* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2964478	NM_015713.5(RRM2B):c.482C>T (p.Thr161Ile)	RRM2B (T161I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960941	NM_015713.5(RRM2B):c.455+16_455+20del	RRM2B	Deletion (intron variant)	not provided	GLikely benign
Select item 2954910	NM_015713.5(RRM2B):c.205-17A>G	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907641	NM_015713.5(RRM2B):c.213A>G (p.Leu71=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898912	NM_015713.5(RRM2B):c.789+7C>T	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895560	NM_015713.5(RRM2B):c.549T>C (p.Phe183=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2834623	NM_015713.5(RRM2B):c.205-1G>C	RRM2B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2834213	NM_015713.5(RRM2B):c.48+6T>C	LOC130000896, RRM2B (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2818210	NM_015713.5(RRM2B):c.290C>T (p.Ala97Val)	RRM2B (A169V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818006	NM_015713.5(RRM2B):c.841T>C (p.Leu281=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814861	NM_015713.5(RRM2B):c.807C>T (p.Ala269=)	RRM2B	Single nucleotide variant (synonymous 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 2805067	NM_015713.5(RRM2B):c.736C>A (p.Pro246Thr)	RRM2B (P194T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785853	NM_015713.5(RRM2B):c.148C>G (p.Pro50Ala)	RRM2B (P50A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2760796	NM_015713.5(RRM2B):c.903+7T>C	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733844	NM_015713.5(RRM2B):c.900A>G (p.Ser300=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726432	NM_015713.5(RRM2B):c.322-11T>C	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724183	NM_015713.5(RRM2B):c.405A>G (p.Ser135=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719924	NM_015713.5(RRM2B):c.684+1G>A	RRM2B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2719062	NM_015713.5(RRM2B):c.321+14T>C	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2709678	NM_015713.5(RRM2B):c.504del (p.Ala169fs)	RRM2B (A241fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2702671	NM_015713.5(RRM2B):c.344T>C (p.Val115Ala)	RRM2B (V63A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702097	NM_015713.5(RRM2B):c.37G>C (p.Asp13His)	LOC130000896, RRM2B (D13H)	Single nucleotide variant (missense variant)	not provided	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 2695681	NM_015713.5(RRM2B):c.852G>A (p.Gln284=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2687854	NM_015713.5(RRM2B):c.184T>N (p.Ser62Xaa)	RRM2B (S134* +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely pathogenic
Select item 2683026	NM_015713.5(RRM2B):c.352C>T (p.Pro118Ser)	RRM2B (P118S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658718	NM_015713.5(RRM2B):c.48+97G>T	RRM2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658717	NM_015713.5(RRM2B):c.48+181G>A	RRM2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627187	NC_000008.10:g.(?_103216728)_(103251347_?)dup	RRM2B	Duplication	not specified	GUncertain significance
Select item 2618873	NM_015713.5(RRM2B):c.509A>G (p.Asp170Gly)	RRM2B (D118G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2580802	NM_015713.5(RRM2B):c.773C>T (p.Ala258Val)	RRM2B (A206V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505639	NM_015713.5(RRM2B):c.551-2A>T	RRM2B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2486195	NM_015713.5(RRM2B):c.68A>C (p.Asn23Thr)	RRM2B (N23T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435485	NM_015713.5(RRM2B):c.181G>C (p.Ala61Pro)	RRM2B (A133P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2426215	NC_000008.10:g.(?_103220361)_(103220533_?)del	RRM2B	Deletion	not provided	GUncertain significance
Select item 2426214	NC_000008.10:g.(?_103244357)_(103244552_?)del	RRM2B	Deletion	not provided	GUncertain significance
Select item 2416682	NM_015713.5(RRM2B):c.110A>G (p.Lys37Arg)	RRM2B (K109R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2332572	NM_015713.5(RRM2B):c.10C>T (p.Pro4Ser)	LOC130000896, RRM2B (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313669	NM_015713.5(RRM2B):c.49-5C>T	RRM2B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2200351	NM_015713.5(RRM2B):c.514G>A (p.Ala172Thr)	RRM2B (A172T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2190423	NM_015713.5(RRM2B):c.32G>A (p.Gly11Glu)	LOC130000896, RRM2B (G11E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174622	NM_015713.5(RRM2B):c.6C>G (p.Gly2=)	LOC130000896, RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127783	NM_015713.5(RRM2B):c.491A>G (p.Tyr164Cys)	RRM2B (Y164C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122852	NM_015713.5(RRM2B):c.49-12T>C	RRM2B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2119924	NM_015713.5(RRM2B):c.271C>T (p.His91Tyr)	RRM2B (H163Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102149	NM_015713.5(RRM2B):c.253_254delinsAT (p.Glu85Met)	RRM2B (E85M +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2088230	NM_015713.5(RRM2B):c.487C>A (p.Pro163Thr)	RRM2B (P111T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082655	NM_015713.5(RRM2B):c.424A>T (p.Ile142Leu)	RRM2B (I142L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2048937	NM_015713.5(RRM2B):c.343G>T (p.Val115Leu)	RRM2B (V63L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047429	NM_015713.5(RRM2B):c.629A>G (p.Lys210Arg)	RRM2B (K158R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028862	NM_015713.5(RRM2B):c.49-14T>C	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024848	NM_015713.5(RRM2B):c.99A>G (p.Pro33=)	RRM2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022502	NM_015713.5(RRM2B):c.927T>C (p.Phe309=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012452	NM_015713.5(RRM2B):c.103C>T (p.Leu35=)	RRM2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2011897	NM_015713.5(RRM2B):c.455+17A>G	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003535	NM_015713.5(RRM2B):c.348G>A (p.Gln116=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001411	NM_015713.5(RRM2B):c.175G>C (p.Ala59Pro)	RRM2B (A131P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992136	NM_015713.5(RRM2B):c.12G>A (p.Pro4=)	LOC130000896, RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988869	NM_015713.5(RRM2B):c.903+17del	RRM2B	Deletion (intron variant)	not provided	GLikely benign
Select item 1986917	NM_015713.5(RRM2B):c.904-9C>T	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981131	NM_015713.5(RRM2B):c.19C>T (p.Pro7Ser)	LOC130000896, RRM2B (P7S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978382	NM_015713.5(RRM2B):c.408G>A (p.Glu136=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977760	NM_015713.5(RRM2B):c.684+12A>G	RRM2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972885	NM_015713.5(RRM2B):c.48+18G>T	LOC130000896, RRM2B (R5L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1970369	NM_015713.5(RRM2B):c.48+20C>G	LOC130000896, RRM2B (L6V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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