5442[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 3028964	NM_005035.4(POLRMT):c.3690C>T (p.Ser1230=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	POLRMT-related disorder	GLikely benign
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 2279401	NM_005035.4(POLRMT):c.3677C>T (p.Thr1226Ile)	POLRMT (T1092I +18 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262261	NM_005035.4(POLRMT):c.3671G>T (p.Arg1224Leu)	POLRMT (R1113L +18 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225512	NM_005035.4(POLRMT):c.3671G>A (p.Arg1224His)	POLRMT (R1103H +18 more)	Single nucleotide variant (missense variant)	not specified	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 2630728	NM_005035.4(POLRMT):c.3666G>A (p.Val1222=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	POLRMT-related disorder	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 718243	NM_005035.4(POLRMT):c.3596T>C (p.Leu1199Ser)	POLRMT (L1199S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2459150	NM_005035.4(POLRMT):c.3590A>G (p.Lys1197Arg)	POLRMT (K1063R +18 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3376307	NM_005035.4(POLRMT):c.3582-7A>G	POLRMT	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 1341469	NM_005035.4(POLRMT):c.[1696C>T;3578C>T]	POLRMT (S1193F +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 788616	NM_005035.4(POLRMT):c.3578C>T (p.Ser1193Phe)	POLRMT (S1193F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2407635	NM_005035.4(POLRMT):c.3538C>G (p.Leu1180Val)	POLRMT (L1154V +18 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2573538	NM_005035.4(POLRMT):c.3496-5C>T	POLRMT	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2648849	NM_005035.4(POLRMT):c.3495+8C>T	POLRMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2285456	NM_005035.4(POLRMT):c.3460T>C (p.Trp1154Arg)	POLRMT (W1020R +18 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336054	NM_005035.4(POLRMT):c.3455_3456del (p.Cys1152fs)	POLRMT (C1018fs +18 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2380975	NM_005035.4(POLRMT):c.3434C>T (p.Thr1145Ile)	POLRMT (T1011I +18 more)	Single nucleotide variant (missense variant)	not specified	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 3049495	NM_005035.4(POLRMT):c.3363C>T (p.Pro1121=)	POLRMT	Single nucleotide variant (synonymous variant +2 more)	POLRMT-related disorder	GLikely benign
Select item 2366859	NM_005035.4(POLRMT):c.3361C>T (p.Pro1121Ser)	POLRMT (P1095S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716497	NM_005035.4(POLRMT):c.3360G>A (p.Pro1120=)	POLRMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2648850	NM_005035.4(POLRMT):c.3327G>A (p.Lys1109=)	POLRMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3250616	NM_005035.4(POLRMT):c.3323+7G>T	POLRMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2286798	NM_005035.4(POLRMT):c.3242C>T (p.Pro1081Leu)	POLRMT (P1006L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 782965	NM_005035.4(POLRMT):c.3165C>T (p.Thr1055=)	POLRMT	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 55 +1 more	GBenign/Likely benign
Select item 2340033	NM_005035.4(POLRMT):c.3143G>A (p.Arg1048Gln)	POLRMT (R1035Q +12 more)	Single nucleotide variant (missense variant)	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 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 2648851	NM_005035.4(POLRMT):c.3084C>T (p.Ala1028=)	POLRMT	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3236594	NM_005035.4(POLRMT):c.3073G>A (p.Val1025Met)	POLRMT (V1011M +10 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 55	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 1271825	NM_005035.4(POLRMT):c.3066+12A>C	POLRMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3362487	NM_005035.4(POLRMT):c.3066G>C (p.Gln1022His)	POLRMT (Q1008H +9 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 1341478	NM_005035.4(POLRMT):c.3037C>T (p.Arg1013Cys)	POLRMT (R1013C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
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 2210544	NM_005035.4(POLRMT):c.3007C>T (p.Arg1003Cys)	POLRMT (R1000C +9 more)	Single nucleotide variant (missense variant)	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 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 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 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 1274121	NM_005035.4(POLRMT):c.2887-7C>G	POLRMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716237	NM_005035.4(POLRMT):c.2839G>A (p.Glu947Lys)	POLRMT (E947K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3308868	NM_005035.4(POLRMT):c.2828C>T (p.Ser943Phe)	POLRMT (S832F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308862	NM_005035.4(POLRMT):c.2813G>C (p.Ser938Thr)	POLRMT (S830T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308867	NM_005035.4(POLRMT):c.2789A>G (p.His930Arg)	POLRMT (H855R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341476	NM_005035.4(POLRMT):c.2775C>A (p.Cys925Ter)	POLRMT (C925*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 55	GPathogenic
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 3064023	NM_005035.4(POLRMT):c.2763+5G>A	POLRMT	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 55	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 3356650	NM_005035.4(POLRMT):c.2725G>T (p.Asp909Tyr)	POLRMT (D798Y +6 more)	Single nucleotide variant (missense variant +2 more)	POLRMT-related disorder	GUncertain significance
Select item 2208321	NM_005035.4(POLRMT):c.2723C>G (p.Ser908Cys)	POLRMT (S904C +6 more)	Single nucleotide variant (missense variant)	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 734258	NM_005035.4(POLRMT):c.2706G>T (p.Ala902=)	POLRMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 207890	NM_005035.4(POLRMT):c.2698G>A (p.Glu900Lys)	POLRMT (E900K)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2324577	NM_005035.4(POLRMT):c.2652G>T (p.Trp884Cys)	POLRMT (W884C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341473	NM_005035.4(POLRMT):c.2641-1G>C	POLRMT	Single nucleotide variant (splice acceptor variant +1 more)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 2378221	NM_005035.4(POLRMT):c.2630A>G (p.Gln877Arg)	POLRMT (Q769R +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266647	NM_005035.4(POLRMT):c.2629C>G (p.Gln877Glu)	POLRMT (Q769E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2261778	NM_005035.4(POLRMT):c.2620T>A (p.Ser874Thr)	POLRMT (S766T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1341470	NM_005035.4(POLRMT):c.2608G>A (p.Asp870Asn)	POLRMT (D870N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
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 713834	NM_005035.4(POLRMT):c.2550G>A (p.Gly850=)	POLRMT	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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 2632362	NM_005035.4(POLRMT):c.2501G>A (p.Gly834Asp)	POLRMT (G723D +6 more)	Single nucleotide variant (missense variant +1 more)	POLRMT-related disorder	GUncertain significance
Select item 2274227	NM_005035.4(POLRMT):c.2491C>T (p.Arg831Cys)	POLRMT (R817C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339950	NM_005035.4(POLRMT):c.2484C>G (p.Ala828=)	POLRMT	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 3308856	NM_005035.4(POLRMT):c.2429C>T (p.Pro810Leu)	POLRMT (P702L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341477	NM_005035.4(POLRMT):c.2428C>T (p.Pro810Ser)	POLRMT (P810S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 55	GPathogenic
Select item 3376607	NM_005035.4(POLRMT):c.2424del (p.Cys809fs)	POLRMT (C698fs +6 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder	GPathogenic
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 3251754	NM_005035.4(POLRMT):c.2399T>C (p.Met800Thr)	POLRMT (M689T +6 more)	Single nucleotide variant (missense variant +1 more)	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 3376631	NM_005035.4(POLRMT):c.2369G>A (p.Arg790Gln)	POLRMT (R679Q +6 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 55	GUncertain significance
Select item 3308859	NM_005035.4(POLRMT):c.2368C>T (p.Arg790Trp)	POLRMT (R787W +6 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 3031577	NM_005035.4(POLRMT):c.2323C>A (p.Leu775Met)	POLRMT (L664M +6 more)	Single nucleotide variant (missense variant +1 more)	POLRMT-related disorder	GUncertain significance
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 2454437	NM_005035.4(POLRMT):c.2288C>T (p.Ala763Val)	POLRMT (A652V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458656	NM_005035.4(POLRMT):c.2284C>G (p.Leu762Val)	POLRMT (L759V +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 3308854	NM_005035.4(POLRMT):c.2278C>T (p.Arg760Cys)	POLRMT (R652C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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