ClinVar for MedGen (Select 412815) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	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 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 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 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 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 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 1656226	NM_015713.5(RRM2B):c.322-7T>C	RRM2B	Single nucleotide variant (intron variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GLikely benign
Select item 1566332	NM_015713.5(RRM2B):c.534T>C (p.Asp178=)	RRM2B	Single nucleotide variant (synonymous variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GLikely benign
Select item 1524868	NM_015713.5(RRM2B):c.455+1G>A	RRM2B	Single nucleotide variant (splice donor variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GLikely pathogenic
Select item 1421637	NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys)	RRM2B (R252K +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1310777	NM_015713.5(RRM2B):c.613A>G (p.Ile205Val)	RRM2B (I153V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1300720	NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn)	RRM2B (K158N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1256971	NM_015713.5(RRM2B):c.48+48C>T	RRM2B (P15L)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GBenign/Likely benign
Select item 1214977	NM_015713.5(RRM2B):c.48+156G>A	RRM2B (R51Q)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +3 more	GUncertain significance
Select item 1163492	NM_015713.5(RRM2B):c.119G>A (p.Arg40His)	RRM2B (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	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 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 1030272	NM_015713.5(RRM2B):c.48+268_48+269delinsAA	RRM2B	Indel (splice donor variant +1 more)	Mitochondrial DNA depletion syndrome 8a	GLikely pathogenic
Select item 982130	NM_015713.5(RRM2B):c.204+5G>A	RRM2B	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 8a	GConflicting classifications of pathogenicity
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 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 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 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 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 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 909969	NM_015713.4(RRM2B):c.-193G>C	LOC130000897, RRM2B	Single nucleotide variant	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GUncertain significance
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 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 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 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 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 909125	NM_015713.4(RRM2B):c.-101G>A	LOC130000897, RRM2B	Single nucleotide variant	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +1 more	GConflicting classifications of pathogenicity
Select item 909124	NM_015713.5(RRM2B):c.-1G>C	RRM2B, LOC130000896	Single nucleotide variant (5 prime UTR variant)	Mitochondrial DNA depletion syndrome 8a +1 more	GUncertain significance
Select item 909123	NM_015713.5(RRM2B):c.162A>G (p.Lys54=)	RRM2B	Single nucleotide variant (synonymous variant +1 more)	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 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 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 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 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 908996	NM_015713.5(RRM2B):c.*1510T>C	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 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 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 830054	NM_015713.5(RRM2B):c.128T>A (p.Val43Asp)	RRM2B (V115D +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 8a	GLikely pathogenic
Select item 830053	NM_015713.5(RRM2B):c.527_528insG (p.Ile176fs)	RRM2B (I124fs +2 more)	Insertion (frameshift variant)	Mitochondrial DNA depletion syndrome 8a	GPathogenic
Select item 805273	NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser)	RRM2B (N229S +2 more)	Single nucleotide variant (missense variant)	Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more	GUncertain significance
Select item 670090	NM_015713.5(RRM2B):c.551-18C>T	RRM2B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 513597	NM_015713.5(RRM2B):c.685-20A>T	RRM2B	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 430458	NM_015713.5(RRM2B):c.1A>G (p.Met1Val)	LOC130000896, RRM2B (M1V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 8a +1 more	GLikely pathogenic
Select item 377148	NM_015713.5(RRM2B):c.48+273G>T	RRM2B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 361184	NM_015713.4(RRM2B):c.-157G>A	LOC130000897, RRM2B	Single nucleotide variant	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +2 more	GBenign
Select item 361183	NM_015713.4(RRM2B):c.-153G>T	LOC130000897, RRM2B	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 361182	NM_015713.4(RRM2B):c.-103G>A	RRM2B, LOC130000897	Single nucleotide variant	Mitochondrial DNA depletion syndrome 8a +2 more	GBenign
Select item 361181	NM_015713.4(RRM2B):c.-88C>A	LOC130000897, RRM2B	Single nucleotide variant	Mitochondrial DNA depletion syndrome 8a +2 more	GBenign
Select item 361180	NM_015713.5(RRM2B):c.503A>G (p.Lys168Arg)	RRM2B (K168R +2 more)	Single nucleotide variant (missense variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +2 more	GUncertain significance
Select item 361179	NM_015713.5(RRM2B):c.540A>G (p.Lys180=)	RRM2B	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 361178	NM_015713.5(RRM2B):c.756G>A (p.Arg252=)	RRM2B	Single nucleotide variant (synonymous variant)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 +2 more	GConflicting classifications of pathogenicity
Select item 361177	NM_015713.5(RRM2B):c.790-9T>C	RRM2B	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 361169	NM_015713.5(RRM2B):c.*732A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 361165	NM_015713.5(RRM2B):c.*866T>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 361163	NM_015713.5(RRM2B):c.*998A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +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 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 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 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 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 361157	NM_015713.5(RRM2B):c.*1601A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 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 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 361150	NM_015713.5(RRM2B):c.*2136G>A	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 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 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 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 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 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 361137	NM_015713.5(RRM2B):c.*2879A>G	RRM2B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
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 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 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 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 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 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

<< First< Prev

Page of 2