ClinVar for Gene (Select 5442) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216640	NM_005035.4(POLRMT):c.980G>A (p.Gly327Glu)	POLRMT (G219E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216639	NM_005035.4(POLRMT):c.731A>G (p.His244Arg)	POLRMT (H244R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216638	NM_005035.4(POLRMT):c.71G>A (p.Gly24Glu)	LOC130062833, POLRMT (G24E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216637	NM_005035.4(POLRMT):c.711C>G (p.Asp237Glu)	POLRMT (D237E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216636	NM_005035.4(POLRMT):c.632C>T (p.Ser211Leu)	POLRMT (S103L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216633	NM_005035.4(POLRMT):c.3631G>A (p.Val1211Met)	POLRMT (V1136M +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216632	NM_005035.4(POLRMT):c.341C>T (p.Ala114Val)	POLRMT (A6V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216631	NM_005035.4(POLRMT):c.3097G>C (p.Val1033Leu)	POLRMT (V1029L +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216630	NM_005035.4(POLRMT):c.3034A>G (p.Lys1012Glu)	POLRMT (K1008E +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216629	NM_005035.4(POLRMT):c.2936A>G (p.Gln979Arg)	POLRMT (Q868R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216628	NM_005035.4(POLRMT):c.281G>C (p.Cys94Ser)	POLRMT (C94S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216627	NM_005035.4(POLRMT):c.2752C>G (p.Pro918Ala)	POLRMT (P914A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216626	NM_005035.4(POLRMT):c.2719G>A (p.Ala907Thr)	POLRMT (A799T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3216625	NM_005035.4(POLRMT):c.2624C>T (p.Ala875Val)	POLRMT (A872V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216624	NM_005035.4(POLRMT):c.2279G>A (p.Arg760His)	POLRMT (R746H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216623	NM_005035.4(POLRMT):c.2209G>A (p.Glu737Lys)	POLRMT (E626K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216622	NM_005035.4(POLRMT):c.1999C>T (p.Pro667Ser)	POLRMT (P559S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216620	NM_005035.4(POLRMT):c.1646C>T (p.Pro549Leu)	POLRMT (P545L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216619	NM_005035.4(POLRMT):c.1580A>G (p.Gln527Arg)	POLRMT (Q419R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216618	NM_005035.4(POLRMT):c.146A>C (p.Gln49Pro)	POLRMT (Q49P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3064023	NM_005035.4(POLRMT):c.2763+5G>A	POLRMT	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3062378	GRCh37/hg19 19p13.3(chr19:352288-1186507)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not specified	GUncertain significance
Select item 3060124	NM_005035.4(POLRMT):c.1664A>C (p.Glu555Ala)	POLRMT (E444A +5 more)	Single nucleotide variant (missense variant +2 more)	POLRMT-related condition	GBenign
Select item 3050341	NM_005035.4(POLRMT):c.1802G>A (p.Arg601Gln)	POLRMT (R490Q +5 more)	Single nucleotide variant (missense variant +2 more)	POLRMT-related condition	GUncertain significance
Select item 3049495	NM_005035.4(POLRMT):c.3363C>T (p.Pro1121=)	POLRMT	Single nucleotide variant (synonymous variant +2 more)	POLRMT-related condition	GLikely benign
Select item 3043279	NM_005035.4(POLRMT):c.1992G>C (p.Leu664=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	POLRMT-related condition	GLikely benign
Select item 3031577	NM_005035.4(POLRMT):c.2323C>A (p.Leu775Met)	POLRMT (L664M +6 more)	Single nucleotide variant (missense variant +1 more)	POLRMT-related condition	GUncertain significance
Select item 3028964	NM_005035.4(POLRMT):c.3690C>T (p.Ser1230=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	POLRMT-related condition	GLikely benign
Select item 3026876	NM_005035.4(POLRMT):c.2918G>A (p.Arg973Gln)	POLRMT (R862Q +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3025952	NM_005035.4(POLRMT):c.229A>G (p.Ser77Gly)	POLRMT (S77G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3025753	NM_005035.4(POLRMT):c.1286A>G (p.His429Arg)	POLRMT (H321R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3024681	NM_005035.4(POLRMT):c.3670C>T (p.Arg1224Cys)	POLRMT (R1090C +18 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2689810	NM_005035.4(POLRMT):c.2177G>A (p.Cys726Tyr)	POLRMT (C615Y +6 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2689809	NM_005035.4(POLRMT):c.2911G>A (p.Ala971Thr)	POLRMT (A860T +7 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2689808	NM_005035.4(POLRMT):c.578G>A (p.Arg193Gln)	POLRMT (R193Q +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2671966	NM_005035.4(POLRMT):c.2002A>C (p.Thr668Pro)	POLRMT (T557P +6 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2671936	NM_005035.4(POLRMT):c.954-1G>C	POLRMT	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 55	GLikely pathogenic
Select item 2671763	NM_005035.4(POLRMT):c.506A>G (p.Lys169Arg)	POLRMT (K169R +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2664861	NM_005035.4(POLRMT):c.2498_2506del (p.Leu833_Pro835del)	POLRMT	Deletion (inframe_deletion +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2648862	NM_005035.4(POLRMT):c.642C>T (p.His214=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648861	NM_005035.4(POLRMT):c.933G>C (p.Gln311His)	POLRMT (Q203H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2648860	NM_005035.4(POLRMT):c.1765A>G (p.Met589Val)	POLRMT (M478V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2648859	NM_005035.4(POLRMT):c.2052G>A (p.Leu684=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648858	NM_005035.4(POLRMT):c.2069C>G (p.Thr690Ser)	POLRMT (T579S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648857	NM_005035.4(POLRMT):c.2091C>T (p.Asp697=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648856	NM_005035.4(POLRMT):c.2226C>T (p.Pro742=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648855	NM_005035.4(POLRMT):c.2319C>T (p.His773=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648854	NM_005035.4(POLRMT):c.2619C>T (p.Asp873=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648853	NM_005035.4(POLRMT):c.2767G>C (p.Gly923Arg)	POLRMT (G812R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2648852	NM_005035.4(POLRMT):c.3069G>T (p.Glu1023Asp)	POLRMT (E1009D +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2648851	NM_005035.4(POLRMT):c.3084C>T (p.Ala1028=)	POLRMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2648850	NM_005035.4(POLRMT):c.3327G>A (p.Lys1109=)	POLRMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2648849	NM_005035.4(POLRMT):c.3495+8C>T	POLRMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648848	NM_005035.4(POLRMT):c.3528C>T (p.Ser1176=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637769	NM_005035.4(POLRMT):c.2565G>T (p.Glu855Asp)	POLRMT (E744D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2635912	NM_005035.4(POLRMT):c.1950C>A (p.Cys650Ter)	POLRMT (C539* +6 more)	Single nucleotide variant (nonsense +1 more)	POLRMT-related condition	GUncertain significance
Select item 2632362	NM_005035.4(POLRMT):c.2501G>A (p.Gly834Asp)	POLRMT (G723D +6 more)	Single nucleotide variant (missense variant +1 more)	POLRMT-related condition	GUncertain significance
Select item 2630728	NM_005035.4(POLRMT):c.3666G>A (p.Val1222=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	POLRMT-related condition	GUncertain significance
Select item 2627213	NM_005035.4(POLRMT):c.3389C>G (p.Ser1130Cys)	POLRMT (S1009C +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612190	NM_005035.4(POLRMT):c.2129A>G (p.Asn710Ser)	POLRMT (N696S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603817	NM_005035.4(POLRMT):c.1284G>T (p.Lys428Asn)	POLRMT (K428N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599984	NM_005035.4(POLRMT):c.3680A>C (p.Tyr1227Ser)	POLRMT (Y1093S +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599231	NM_005035.4(POLRMT):c.184C>G (p.Leu62Val)	POLRMT (L62V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594486	NM_005035.4(POLRMT):c.536C>T (p.Thr179Met)	POLRMT (T179M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591644	NM_005035.4(POLRMT):c.505A>G (p.Lys169Glu)	POLRMT (K169E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591071	NM_005035.4(POLRMT):c.751G>T (p.Gly251Cys)	POLRMT (G143C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582470	NM_005035.4(POLRMT):c.757C>T (p.Arg253Trp)	POLRMT (R145W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2582453	NM_005035.4(POLRMT):c.232G>A (p.Val78Met)	POLRMT (V78M)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 55 +2 more	GConflicting classifications of pathogenicity
Select item 2582426	NM_005035.4(POLRMT):c.2511C>G (p.Gly837=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2582312	NM_005035.4(POLRMT):c.1627-3C>T	POLRMT	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 2581378	NM_005035.4(POLRMT):c.1783A>C (p.Lys595Gln)	POLRMT (K484Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2573538	NM_005035.4(POLRMT):c.3496-5C>T	POLRMT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2573537	NM_005035.4(POLRMT):c.2386C>G (p.Leu796Val)	POLRMT (L685V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573536	NM_005035.4(POLRMT):c.3142C>T (p.Arg1048Trp)	POLRMT (R1007W +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572325	NM_005035.4(POLRMT):c.2887G>A (p.Val963Met)	POLRMT (V852M +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2569003	NM_005035.4(POLRMT):c.5C>G (p.Ser2Trp)	LOC130062834, POLRMT (S2W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554621	NM_005035.4(POLRMT):c.1681G>A (p.Ala561Thr)	POLRMT (A547T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553195	NM_005035.4(POLRMT):c.2413C>T (p.Arg805Cys)	POLRMT (R697C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549166	NM_005035.4(POLRMT):c.2030C>G (p.Ala677Gly)	POLRMT (A566G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548051	NM_005035.4(POLRMT):c.1271G>A (p.Ser424Asn)	POLRMT (S410N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542708	NM_005035.4(POLRMT):c.1760C>T (p.Thr587Met)	POLRMT (T479M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540869	NM_005035.4(POLRMT):c.1837C>T (p.Arg613Cys)	POLRMT (R599C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540234	NM_005035.4(POLRMT):c.1331C>T (p.Ala444Val)	POLRMT (A444V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527155	NM_005035.4(POLRMT):c.1163A>G (p.Lys388Arg)	POLRMT (K388R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522511	NM_005035.4(POLRMT):c.476G>A (p.Arg159His)	POLRMT (R159H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2522047	NM_005035.4(POLRMT):c.3232G>A (p.Val1078Ile)	POLRMT (V1003I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2520553	NM_005035.4(POLRMT):c.347C>T (p.Pro116Leu)	POLRMT (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516395	NM_005035.4(POLRMT):c.2362C>T (p.His788Tyr)	POLRMT (H677Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516372	NM_005035.4(POLRMT):c.896A>G (p.Tyr299Cys)	POLRMT (Y285C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510176	NM_005035.4(POLRMT):c.1441C>T (p.Arg481Trp)	POLRMT (R373W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2505244	NM_005035.4(POLRMT):c.3185C>G (p.Ser1062Cys)	POLRMT (S1021C +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2482962	NM_005035.4(POLRMT):c.223G>C (p.Ala75Pro)	POLRMT (A75P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480341	NM_005035.4(POLRMT):c.2458G>A (p.Val820Met)	POLRMT (V712M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470799	NM_005035.4(POLRMT):c.2254C>A (p.Pro752Thr)	POLRMT (P641T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470135	NM_005035.4(POLRMT):c.496C>T (p.Leu166Phe)	POLRMT (L58F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462690	NM_005035.4(POLRMT):c.3347A>G (p.Lys1116Arg)	POLRMT (K1102R +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460322	NM_005035.4(POLRMT):c.1596G>C (p.Lys532Asn)	POLRMT (K518N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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