Fech Variant Search Result - Rat Genome Database

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774 records found for search term Fech

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11663454	CV348866	single nucleotide variant	NM_000140.5(FECH):c.*60T>C	Protoporphyria, erythropoietic, 1 [RCV000396305]	uncertain significance	18	57550652	57550652	Human	1	name
11652766	CV348868	single nucleotide variant	NM_000140.5(FECH):c.*55C>T	Protoporphyria, erythropoietic, 1 [RCV000307026]	uncertain significance	18	57550657	57550657	Human	1	name
151803515	CV1442526	single nucleotide variant	NM_000140.5(FECH):c.67+5G>A	not provided [RCV002011785]	uncertain significance	18	57586549	57586549	Human		name
152150234	CV1625717	single nucleotide variant	NM_000140.5(FECH):c.67+8G>T	not provided [RCV002139405]	likely benign	18	57586546	57586546	Human		name
156346006	CV1868317	single nucleotide variant	NM_000140.5(FECH):c.67+6T>G	not provided [RCV003064522]	uncertain significance	18	57586548	57586548	Human		name
11547956	CV256684	single nucleotide variant	NM_000140.3(FECH):c.-252A>G	not provided [RCV001675684]\|not specified [RCV000248444]	benign	18	57586872	57586872	Human		name
405126888	CV3132834	single nucleotide variant	NM_000140.5(FECH):c.67+4A>G	not provided [RCV003837997]	uncertain significance	18	57586550	57586550	Human		name
11662310	CV331842	single nucleotide variant	NM_000140.5(FECH):c.*825T>C	Protoporphyria, erythropoietic, 1 [RCV000385037]	uncertain significance	18	57549887	57549887	Human	1	name
11620021	CV331846	single nucleotide variant	NM_000140.5(FECH):c.*592C>T	Protoporphyria, erythropoietic, 1 [RCV000331797]	likely benign	18	57550120	57550120	Human	1	name
11625850	CV331850	single nucleotide variant	NM_000140.5(FECH):c.*422T>A	Protoporphyria, erythropoietic, 1 [RCV000404019]\|not provided [RCV004717144]	benign	18	57550290	57550290	Human	1	name
11652204	CV331853	single nucleotide variant	NM_000140.5(FECH):c.*136G>C	Protoporphyria, erythropoietic, 1 [RCV000303699]	uncertain significance	18	57550576	57550576	Human	1	name
11622470	CV331873	single nucleotide variant	NM_000140.5(FECH):c.*117C>T	Protoporphyria, erythropoietic, 1 [RCV000360670]\|not provided [RCV004717145]	benign	18	57550595	57550595	Human	1	name
11619447	CV342113	single nucleotide variant	NM_000140.5(FECH):c.*892T>C	Protoporphyria, erythropoietic, 1 [RCV000325772]	likely benign	18	57549820	57549820	Human	1	name
11624450	CV342114	single nucleotide variant	NM_000140.5(FECH):c.*571G>A	Protoporphyria, erythropoietic, 1 [RCV000386418]	likely benign	18	57550141	57550141	Human	1	name
11616656	CV342120	single nucleotide variant	NM_000140.5(FECH):c.*481A>G	Protoporphyria, erythropoietic, 1 [RCV000296782]\|not provided [RCV004717143]	benign	18	57550231	57550231	Human	1	name
11627890	CV347487	single nucleotide variant	NM_000140.5(FECH):c.*696C>T	Protoporphyria, erythropoietic, 1 [RCV000290825]\|not provided [RCV004718511]	benign	18	57550016	57550016	Human	1	name
11632340	CV347490	single nucleotide variant	NM_000140.5(FECH):c.*248C>T	Protoporphyria, erythropoietic, 1 [RCV000404572]\|not provided [RCV001636924]	benign	18	57550464	57550464	Human	1	name
11626819	CV348854	single nucleotide variant	NM_000140.5(FECH):c.*936C>T	Protoporphyria, erythropoietic, 1 [RCV000270844]	likely benign	18	57549776	57549776	Human	1	name
11656667	CV348857	single nucleotide variant	NM_000140.5(FECH):c.*443A>C	Protoporphyria, erythropoietic, 1 [RCV000335448]	uncertain significance	18	57550269	57550269	Human	1	name
11627398	CV348862	single nucleotide variant	NM_000140.5(FECH):c.*394C>G	Protoporphyria, erythropoietic, 1 [RCV000281439]	uncertain significance	18	57550318	57550318	Human	1	name
11630028	CV348865	single nucleotide variant	NM_000140.5(FECH):c.*347G>A	Protoporphyria, erythropoietic, 1 [RCV000338789]	likely benign	18	57550365	57550365	Human	1	name
150495232	CV1272592	single nucleotide variant	NM_000140.5(FECH):c.67+76C>T	not provided [RCV001688515]	benign	18	57586478	57586478	Human		name
151761709	CV1393312	single nucleotide variant	NM_000140.5(FECH):c.463+1G>C	not provided [RCV001949221]	pathogenic	18	57571391	57571391	Human		name
151723389	CV1442924	single nucleotide variant	NM_000140.5(FECH):c.463+1G>T	not provided [RCV002040376]	likely pathogenic	18	57571391	57571391	Human		name
151826391	CV1442935	single nucleotide variant	NM_000140.5(FECH):c.599-2A>G	not provided [RCV002013876]	pathogenic\|likely pathogenic	18	57562982	57562982	Human		name
151865414	CV1455983	single nucleotide variant	NM_000140.5(FECH):c.805-1G>A	not provided [RCV002034993]	likely pathogenic	18	57554953	57554953	Human		name
8555699	CV15589	single nucleotide variant	NM_000140.5(FECH):c.68-23C>T	Jaundice [RCV000415389]\|Protoporphyria, erythropoietic, 1 [RCV000000580]\|not provided [RCV001520174]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	18	57580222	57580222	Human	4	name
8555702	CV15594	single nucleotide variant	NM_000140.5(FECH):c.314+2T>G	Protoporphyria, erythropoietic, 1 [RCV000000585]\|not provided [RCV001851513]	pathogenic	18	57573244	57573244	Human	1	name
8555703	CV15595	single nucleotide variant	NM_000140.5(FECH):c.314+6A>C	Protoporphyria, erythropoietic, 1 [RCV000000586]	pathogenic	18	57573240	57573240	Human	1	name
152077713	CV1560941	single nucleotide variant	NM_000140.5(FECH):c.913-5C>T	not provided [RCV002112333]	likely benign	18	57554429	57554429	Human		name
152069004	CV1569864	single nucleotide variant	NM_000140.5(FECH):c.68-20G>A	not provided [RCV002191528]	likely benign	18	57580219	57580219	Human		name
152051886	CV1622501	single nucleotide variant	NM_000140.5(FECH):c.913-6G>A	not provided [RCV002207625]	likely benign	18	57554430	57554430	Human		name
156180664	CV1868312	single nucleotide variant	NM_000140.5(FECH):c.913-2A>G	not provided [RCV003041334]	likely pathogenic	18	57554426	57554426	Human		name
156197866	CV1916560	single nucleotide variant	NM_000140.5(FECH):c.913-7C>G	not provided [RCV002595597]	likely benign	18	57554431	57554431	Human		name
156313821	CV2089470	single nucleotide variant	NM_000140.5(FECH):c.314+6A>G	not provided [RCV002898871]	uncertain significance	18	57573240	57573240	Human		name
156342638	CV2127742	single nucleotide variant	NM_000140.5(FECH):c.67+20C>T	not provided [RCV002938980]	likely benign	18	57586534	57586534	Human		name
156245480	CV2187377	single nucleotide variant	NM_000140.5(FECH):c.912+8G>C	not provided [RCV003059814]	likely benign	18	57554837	57554837	Human		name
401961081	CV2844485	single nucleotide variant	NM_000140.5(FECH):c.598+3A>G	not provided [RCV003480280]	uncertain significance	18	57566444	57566444	Human		name
405017773	CV2856016	single nucleotide variant	NM_000140.5(FECH):c.599-2A>C	not provided [RCV003577295]	pathogenic	18	57562982	57562982	Human		name
405131932	CV2905306	single nucleotide variant	NM_000140.5(FECH):c.804+5G>A	not provided [RCV003560052]	uncertain significance	18	57559140	57559140	Human		name
405131538	CV2905308	single nucleotide variant	NM_000140.5(FECH):c.705+1G>A	not provided [RCV003560054]	likely pathogenic	18	57562873	57562873	Human		name
405037592	CV2932981	single nucleotide variant	NM_000140.5(FECH):c.598+7G>A	not provided [RCV003578852]	likely benign	18	57566440	57566440	Human		name
404980465	CV3006090	single nucleotide variant	NM_000140.5(FECH):c.598+4A>T	not provided [RCV003691131]	likely benign	18	57566443	57566443	Human		name
405130026	CV3054595	single nucleotide variant	NM_000140.5(FECH):c.195-4A>G	not provided [RCV003724743]	likely benign	18	57573369	57573369	Human		name
405233642	CV3157930	single nucleotide variant	NM_000140.5(FECH):c.194+7G>A	not provided [RCV003865686]	likely benign	18	57580066	57580066	Human		name
405266540	CV3202019	single nucleotide variant	NM_000140.5(FECH):c.315-1G>C	FECH-related disorder [RCV003911502]	likely pathogenic	18	57571541	57571541	Human		name , trait , alternate_id
11612672	CV331767	single nucleotide variant	NM_000140.5(FECH):c.*5143C>T	Protoporphyria, erythropoietic, 1 [RCV000261674]	likely benign	18	57545569	57545569	Human	1	name
11618898	CV331768	single nucleotide variant	NM_000140.5(FECH):c.*5140G>A	Protoporphyria, erythropoietic, 1 [RCV000319210]	likely benign	18	57545572	57545572	Human	1	name
11635626	CV331771	duplication	NM_000140.5(FECH):c.*4891dup	Protoporphyria, erythropoietic, 1 [RCV000376882]	benign	18	57545820	57545821	Human	1	name
11624148	CV331776	single nucleotide variant	NM_000140.5(FECH):c.*4829C>T	Protoporphyria, erythropoietic, 1 [RCV000382609]	likely benign	18	57545883	57545883	Human	1	name
11616390	CV331785	single nucleotide variant	NM_000140.5(FECH):c.*4597T>C	Protoporphyria, erythropoietic, 1 [RCV000294005]	likely benign	18	57546115	57546115	Human	1	name
11625282	CV331790	single nucleotide variant	NM_000140.5(FECH):c.*4528C>T	Protoporphyria, erythropoietic, 1 [RCV000397165]	uncertain significance	18	57546184	57546184	Human	1	name
11621937	CV331792	single nucleotide variant	NM_000140.5(FECH):c.*4458C>T	Protoporphyria, erythropoietic, 1 [RCV000354369]	likely benign	18	57546254	57546254	Human	1	name
11619638	CV331793	single nucleotide variant	NM_000140.5(FECH):c.*4056C>T	Protoporphyria, erythropoietic, 1 [RCV000327590]	likely benign	18	57546656	57546656	Human	1	name
11621674	CV331795	single nucleotide variant	NM_000140.5(FECH):c.*3804G>A	Protoporphyria, erythropoietic, 1 [RCV000351390]	likely benign	18	57546908	57546908	Human	1	name
11664377	CV331798	single nucleotide variant	NM_000140.5(FECH):c.*3788A>G	Protoporphyria, erythropoietic, 1 [RCV000404982]	uncertain significance	18	57546924	57546924	Human	1	name
11617493	CV331801	single nucleotide variant	NM_000140.5(FECH):c.*3567G>A	Protoporphyria, erythropoietic, 1 [RCV000304874]	likely benign	18	57547145	57547145	Human	1	name
11619907	CV331802	single nucleotide variant	NM_000140.5(FECH):c.*2825A>G	Protoporphyria, erythropoietic, 1 [RCV000330691]	benign	18	57547887	57547887	Human	1	name
11618676	CV331805	single nucleotide variant	NM_000140.5(FECH):c.*2739T>C	Protoporphyria, erythropoietic, 1 [RCV000316869]	benign	18	57547973	57547973	Human	1	name
11623344	CV331808	single nucleotide variant	NM_000140.5(FECH):c.*2644A>G	Protoporphyria, erythropoietic, 1 [RCV000371528]	likely benign	18	57548068	57548068	Human	1	name
11623101	CV331816	single nucleotide variant	NM_000140.5(FECH):c.*2446G>T	Protoporphyria, erythropoietic, 1 [RCV000368600]\|not provided [RCV004694407]	uncertain significance	18	57548266	57548266	Human	1	name
11614086	CV331828	single nucleotide variant	NM_000140.5(FECH):c.*2443T>G	Protoporphyria, erythropoietic, 1 [RCV000274075]	likely benign	18	57548269	57548269	Human	1	name
11644311	CV331829	single nucleotide variant	NM_000140.5(FECH):c.*2079C>T	Protoporphyria, erythropoietic, 1 [RCV000259511]	uncertain significance	18	57548633	57548633	Human	1	name
11645442	CV331831	single nucleotide variant	NM_000140.5(FECH):c.*1950A>G	Protoporphyria, erythropoietic, 1 [RCV000265598]	uncertain significance	18	57548762	57548762	Human	1	name
11624047	CV331834	single nucleotide variant	NM_000140.5(FECH):c.*1479T>C	Protoporphyria, erythropoietic, 1 [RCV000380756]	likely benign	18	57549233	57549233	Human	1	name
11619342	CV331837	single nucleotide variant	NM_000140.5(FECH):c.*1039G>A	Protoporphyria, erythropoietic, 1 [RCV000324511]	likely benign	18	57549673	57549673	Human	1	name
11619773	CV331875	single nucleotide variant	NM_000140.5(FECH):c.913-7C>T	FECH-related disorder [RCV003910253]\|Protoporphyria, erythropoietic, 1 [RCV000329269]\|not provided [RCV002057462]	benign\|likely benign	18	57554431	57554431	Human	2	name , trait , alternate_id
11621339	CV342058	single nucleotide variant	NM_000140.5(FECH):c.*5801T>G	Protoporphyria, erythropoietic, 1 [RCV000347045]	likely benign	18	57544911	57544911	Human	1	name
11617743	CV342061	single nucleotide variant	NM_000140.5(FECH):c.*5588G>A	Protoporphyria, erythropoietic, 1 [RCV000307283]	benign	18	57545124	57545124	Human	1	name
11622756	CV342062	single nucleotide variant	NM_000140.5(FECH):c.*5394G>T	Protoporphyria, erythropoietic, 1 [RCV000364318]	likely benign	18	57545318	57545318	Human	1	name
11612763	CV342065	single nucleotide variant	NM_000140.5(FECH):c.*5090G>A	Protoporphyria, erythropoietic, 1 [RCV000262512]	uncertain significance	18	57545622	57545622	Human	1	name
11615597	CV342067	single nucleotide variant	NM_000140.5(FECH):c.*4886T>G	Protoporphyria, erythropoietic, 1 [RCV000287101]	benign	18	57545826	57545826	Human	1	name
11621379	CV342079	single nucleotide variant	NM_000140.5(FECH):c.*4720T>C	Protoporphyria, erythropoietic, 1 [RCV000347651]	uncertain significance	18	57545992	57545992	Human	1	name
11663562	CV342080	single nucleotide variant	NM_000140.5(FECH):c.*4449A>G	Protoporphyria, erythropoietic, 1 [RCV000397191]	uncertain significance	18	57546263	57546263	Human	1	name
11613143	CV342083	single nucleotide variant	NM_000140.5(FECH):c.*4367C>T	Protoporphyria, erythropoietic, 1 [RCV000265659]	likely benign	18	57546345	57546345	Human	1	name
11622509	CV342084	single nucleotide variant	NM_000140.5(FECH):c.*4337G>A	Protoporphyria, erythropoietic, 1 [RCV000360959]	uncertain significance	18	57546375	57546375	Human	1	name
11613204	CV342090	single nucleotide variant	NM_000140.5(FECH):c.*4336A>G	Protoporphyria, erythropoietic, 1 [RCV000266391]	uncertain significance	18	57546376	57546376	Human	1	name
11616644	CV342091	single nucleotide variant	NM_000140.5(FECH):c.*3841C>T	Protoporphyria, erythropoietic, 1 [RCV000296444]	likely benign	18	57546871	57546871	Human	1	name
11625883	CV342094	single nucleotide variant	NM_000140.5(FECH):c.*3716C>T	Protoporphyria, erythropoietic, 1 [RCV000404352]	likely benign	18	57546996	57546996	Human	1	name
11617316	CV342095	single nucleotide variant	NM_000140.5(FECH):c.*3691C>T	Protoporphyria, erythropoietic, 1 [RCV000303381]	likely benign	18	57547021	57547021	Human	1	name
11622782	CV342097	single nucleotide variant	NM_000140.5(FECH):c.*3377G>T	Protoporphyria, erythropoietic, 1 [RCV000364176]	benign	18	57547335	57547335	Human	1	name
11648547	CV342099	single nucleotide variant	NM_000140.5(FECH):c.*2600G>A	Protoporphyria, erythropoietic, 1 [RCV000282571]	uncertain significance	18	57548112	57548112	Human	1	name
11621112	CV342103	single nucleotide variant	NM_000140.5(FECH):c.*1508G>A	Protoporphyria, erythropoietic, 1 [RCV000344788]\|not provided [RCV004703744]	likely benign	18	57549204	57549204	Human	1	name
11651380	CV342110	single nucleotide variant	NM_000140.5(FECH):c.*1176G>A	Protoporphyria, erythropoietic, 1 [RCV000298775]	uncertain significance	18	57549536	57549536	Human	1	name
11628860	CV347435	single nucleotide variant	NM_000140.5(FECH):c.*5247T>C	Protoporphyria, erythropoietic, 1 [RCV000310897]	uncertain significance	18	57545465	57545465	Human	1	name
11660525	CV347436	single nucleotide variant	NM_000140.5(FECH):c.*5170T>C	Protoporphyria, erythropoietic, 1 [RCV000368025]	uncertain significance	18	57545542	57545542	Human	1	name
11631216	CV347439	single nucleotide variant	NM_000140.5(FECH):c.*5139C>T	Protoporphyria, erythropoietic, 1 [RCV000371608]	likely benign	18	57545573	57545573	Human	1	name
11629377	CV347442	single nucleotide variant	NM_000140.5(FECH):c.*4971A>G	Protoporphyria, erythropoietic, 1 [RCV000322284]	benign	18	57545741	57545741	Human	1	name
11630377	CV347443	single nucleotide variant	NM_000140.5(FECH):c.*4563G>T	Protoporphyria, erythropoietic, 1 [RCV000348674]	benign	18	57546149	57546149	Human	1	name
11628378	CV347444	single nucleotide variant	NM_000140.5(FECH):c.*4445G>A	Protoporphyria, erythropoietic, 1 [RCV000300942]	likely benign	18	57546267	57546267	Human	1	name
11655477	CV347448	single nucleotide variant	NM_000140.5(FECH):c.*4237A>G	Protoporphyria, erythropoietic, 1 [RCV000326163]	uncertain significance	18	57546475	57546475	Human	1	name
11627919	CV347449	single nucleotide variant	NM_000140.5(FECH):c.*4077C>T	Protoporphyria, erythropoietic, 1 [RCV000291315]	uncertain significance	18	57546635	57546635	Human	1	name
11662490	CV347453	single nucleotide variant	NM_000140.5(FECH):c.*3976C>T	Protoporphyria, erythropoietic, 1 [RCV000386732]	uncertain significance	18	57546736	57546736	Human	1	name
11659463	CV347454	single nucleotide variant	NM_000140.5(FECH):c.*3656C>T	Protoporphyria, erythropoietic, 1 [RCV000358228]	uncertain significance	18	57547056	57547056	Human	1	name
11627132	CV347455	single nucleotide variant	NM_000140.5(FECH):c.*2840C>T	Protoporphyria, erythropoietic, 1 [RCV000275667]	likely benign	18	57547872	57547872	Human	1	name
11631788	CV347459	single nucleotide variant	NM_000140.5(FECH):c.*2788G>A	Protoporphyria, erythropoietic, 1 [RCV000388845]	likely benign	18	57547924	57547924	Human	1	name
11648752	CV347462	single nucleotide variant	NM_000140.5(FECH):c.*2513G>A	Protoporphyria, erythropoietic, 1 [RCV000283642]	uncertain significance	18	57548199	57548199	Human	1	name
11635395	CV347465	duplication	NM_000140.5(FECH):c.*2461dup	Protoporphyria, erythropoietic, 1 [RCV000343212]	benign	18	57548250	57548251	Human	1	name
11630602	CV347466	single nucleotide variant	NM_000140.5(FECH):c.*2371T>G	Protoporphyria, erythropoietic, 1 [RCV000354424]\|not provided [RCV004717141]	benign	18	57548341	57548341	Human	1	name
11631300	CV347470	single nucleotide variant	NM_000140.5(FECH):c.*1966G>T	Protoporphyria, erythropoietic, 1 [RCV000374240]	uncertain significance	18	57548746	57548746	Human	1	name
11627606	CV347475	single nucleotide variant	NM_000140.5(FECH):c.*1567A>G	Protoporphyria, erythropoietic, 1 [RCV000285103]	likely benign	18	57549145	57549145	Human	1	name
11658054	CV347476	single nucleotide variant	NM_000140.5(FECH):c.*1348T>G	Protoporphyria, erythropoietic, 1 [RCV000346288]	uncertain significance	18	57549364	57549364	Human	1	name
11630515	CV347482	single nucleotide variant	NM_000140.5(FECH):c.*1287T>A	Protoporphyria, erythropoietic, 1 [RCV000352032]	uncertain significance	18	57549425	57549425	Human	1	name
11626414	CV347483	single nucleotide variant	NM_000140.5(FECH):c.*1173A>T	Protoporphyria, erythropoietic, 1 [RCV000263576]	uncertain significance	18	57549539	57549539	Human	1	name
11626471	CV347485	single nucleotide variant	NM_000140.5(FECH):c.*1054T>C	Protoporphyria, erythropoietic, 1 [RCV000264726]	likely benign	18	57549658	57549658	Human	1	name
11632075	CV348769	single nucleotide variant	NM_000140.5(FECH):c.*5628C>A	Protoporphyria, erythropoietic, 1 [RCV000397903]	benign	18	57545084	57545084	Human	1	name
11627189	CV348770	single nucleotide variant	NM_000140.5(FECH):c.*5349C>T	Protoporphyria, erythropoietic, 1 [RCV000276906]	uncertain significance	18	57545363	57545363	Human	1	name
11664182	CV348781	single nucleotide variant	NM_000140.5(FECH):c.*4598T>G	Protoporphyria, erythropoietic, 1 [RCV000403397]	uncertain significance	18	57546114	57546114	Human	1	name
11629004	CV348782	single nucleotide variant	NM_000140.5(FECH):c.*4463A>G	Protoporphyria, erythropoietic, 1 [RCV000313570]	benign	18	57546249	57546249	Human	1	name
11630650	CV348783	single nucleotide variant	NM_000140.5(FECH):c.*4368G>A	Protoporphyria, erythropoietic, 1 [RCV000355653]	likely benign	18	57546344	57546344	Human	1	name
11629291	CV348786	single nucleotide variant	NM_000140.5(FECH):c.*4363G>A	Protoporphyria, erythropoietic, 1 [RCV000320278]	uncertain significance	18	57546349	57546349	Human	1	name
11631528	CV348787	single nucleotide variant	NM_000140.5(FECH):c.*4106A>G	Protoporphyria, erythropoietic, 1 [RCV000380831]	benign	18	57546606	57546606	Human	1	name
11657046	CV348791	single nucleotide variant	NM_000140.5(FECH):c.*3719C>T	Protoporphyria, erythropoietic, 1 [RCV000338382]	uncertain significance	18	57546993	57546993	Human	1	name
11632029	CV348792	single nucleotide variant	NM_000140.5(FECH):c.*3601A>G	Protoporphyria, erythropoietic, 1 [RCV000396425]	benign	18	57547111	57547111	Human	1	name
11626789	CV348795	single nucleotide variant	NM_000140.5(FECH):c.*3339G>A	Protoporphyria, erythropoietic, 1 [RCV000269585]	likely benign	18	57547373	57547373	Human	1	name
11629629	CV348797	single nucleotide variant	NM_000140.5(FECH):c.*3170T>C	Protoporphyria, erythropoietic, 1 [RCV000329479]	likely benign	18	57547542	57547542	Human	1	name
11630997	CV348798	single nucleotide variant	NM_000140.5(FECH):c.*3129C>T	Protoporphyria, erythropoietic, 1 [RCV000365518]	likely benign	18	57547583	57547583	Human	1	name
11650678	CV348801	single nucleotide variant	NM_000140.5(FECH):c.*2782G>T	Protoporphyria, erythropoietic, 1 [RCV000294508]	uncertain significance	18	57547930	57547930	Human	1	name
11656960	CV348803	single nucleotide variant	NM_000140.5(FECH):c.*2599C>T	Protoporphyria, erythropoietic, 1 [RCV000337567]	uncertain significance	18	57548113	57548113	Human	1	name
11631468	CV348807	single nucleotide variant	NM_000140.5(FECH):c.*2526T>C	Protoporphyria, erythropoietic, 1 [RCV000378141]\|not provided [RCV004717140]	benign	18	57548186	57548186	Human	1	name
11631915	CV348808	single nucleotide variant	NM_000140.5(FECH):c.*2451T>G	Protoporphyria, erythropoietic, 1 [RCV000393332]	benign	18	57548261	57548261	Human	1	name
11653850	CV348811	single nucleotide variant	NM_000140.5(FECH):c.*2441G>T	Protoporphyria, erythropoietic, 1 [RCV000313657]	uncertain significance	18	57548271	57548271	Human	1	name
11654665	CV348812	single nucleotide variant	NM_000140.5(FECH):c.*2060C>T	Protoporphyria, erythropoietic, 1 [RCV000319406]	uncertain significance	18	57548652	57548652	Human	1	name
11629352	CV348813	single nucleotide variant	NM_000140.5(FECH):c.*1915G>T	Protoporphyria, erythropoietic, 1 [RCV000320811]	likely benign	18	57548797	57548797	Human	1	name
11631531	CV348814	single nucleotide variant	NM_000140.5(FECH):c.*1622T>C	Protoporphyria, erythropoietic, 1 [RCV000380040]\|not provided [RCV004717142]	benign	18	57549090	57549090	Human	1	name
11650153	CV348823	single nucleotide variant	NM_000140.5(FECH):c.*1453T>C	Protoporphyria, erythropoietic, 1 [RCV000291429]	uncertain significance	18	57549259	57549259	Human	1	name
11658976	CV348844	single nucleotide variant	NM_000140.5(FECH):c.*1175G>A	Protoporphyria, erythropoietic, 1 [RCV000353750]	uncertain significance	18	57549537	57549537	Human	1	name
11651552	CV348846	single nucleotide variant	NM_000140.5(FECH):c.*1170T>A	Protoporphyria, erythropoietic, 1 [RCV000299811]	uncertain significance	18	57549542	57549542	Human	1	name
11659564	CV348848	single nucleotide variant	NM_000140.5(FECH):c.*1071C>G	Protoporphyria, erythropoietic, 1 [RCV000359294]	uncertain significance	18	57549641	57549641	Human	1	name
11631507	CV348853	single nucleotide variant	NM_000140.5(FECH):c.*1032G>A	Protoporphyria, erythropoietic, 1 [RCV000379330]	likely benign	18	57549680	57549680	Human	1	name
596946263	CV3550528	duplication	NM_000140.5(FECH):c.598+1dup	not provided [RCV004819066]	likely pathogenic	18	57566445	57566446	Human		name
597844625	CV3736151	single nucleotide variant	NM_000140.5(FECH):c.315-7G>T	not provided [RCV005065499]	likely benign	18	57571547	57571547	Human		name
597849488	CV3761684	single nucleotide variant	NM_000140.5(FECH):c.599-7A>G	not provided [RCV005087780]	likely benign	18	57562987	57562987	Human		name
597850374	CV3784825	single nucleotide variant	NM_000140.5(FECH):c.598+2T>G	not provided [RCV005125604]	likely pathogenic	18	57566445	57566445	Human		name
597929250	CV3854253	single nucleotide variant	NM_000140.5(FECH):c.195-2A>G	not provided [RCV005203523]	pathogenic	18	57573367	57573367	Human		name
21068807	CV791873	single nucleotide variant	NM_000140.5(FECH):c.599-3C>T	Protoporphyria, erythropoietic, 1 [RCV000990107]\|not provided [RCV002549737]	likely pathogenic\|uncertain significance	18	57562983	57562983	Human	1	name
21068810	CV791874	single nucleotide variant	NM_000140.5(FECH):c.598+1G>T	Protoporphyria, erythropoietic, 1 [RCV000990108]\|not provided [RCV002549738]	pathogenic	18	57566446	57566446	Human	1	name
28901904	CV880679	single nucleotide variant	NM_000140.5(FECH):c.464-4A>G	Protoporphyria, erythropoietic, 1 [RCV001125004]	uncertain significance	18	57566585	57566585	Human	1	name
150449575	CV1215126	single nucleotide variant	NM_000140.5(FECH):c.913-43A>C	not provided [RCV001611716]	benign	18	57554467	57554467	Human		name
150511057	CV1242591	single nucleotide variant	NM_000140.5(FECH):c.463+43C>T	not provided [RCV001660943]	benign	18	57571349	57571349	Human		name
150430916	CV1243522	single nucleotide variant	NM_000140.5(FECH):c.912+94T>A	not provided [RCV001663141]	benign	18	57554751	57554751	Human		name
150453748	CV1260561	single nucleotide variant	NM_000140.5(FECH):c.194+43C>T	not provided [RCV001681053]	benign	18	57580030	57580030	Human		name
150438144	CV1267792	single nucleotide variant	NM_000140.5(FECH):c.314+23A>G	Protoporphyria, erythropoietic, 1 [RCV001702967]\|not provided [RCV001687817]	benign	18	57573223	57573223	Human	1	name
152124609	CV1527705	single nucleotide variant	NM_000140.5(FECH):c.599-13C>G	not provided [RCV002082036]	likely benign	18	57562993	57562993	Human		name
152160167	CV1544549	single nucleotide variant	NM_000140.5(FECH):c.705+19G>C	not provided [RCV002123043]	benign	18	57562855	57562855	Human		name
8555700	CV15591	single nucleotide variant	NM_000140.5(FECH):c.1077+1G>A	Protoporphyria, erythropoietic, 1 [RCV000000582]	pathogenic	18	57554259	57554259	Human	1	name
8555701	CV15592	single nucleotide variant	NM_000140.5(FECH):c.1137+3A>G	Protoporphyria, erythropoietic, 1 [RCV000000583]\|not provided [RCV001851512]	pathogenic\|uncertain significance	18	57551312	57551312	Human	1	name
8555706	CV15598	single nucleotide variant	NM_000140.5(FECH):c.194+11A>G	Protoporphyria, erythropoietic, 1 [RCV000000589]	pathogenic	18	57580062	57580062	Human	1	name
8595031	CV15601	single nucleotide variant	NM_000140.5(FECH):c.315-48T>C	Autosomal erythropoietic protoporphyria [RCV001195427]\|Jaundice [RCV000414979]\|Protoporphyria, erythropoietic, 1 [RCV000000592]\|not provided [RCV001381522]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|low penetrance\|no classifications from unflagged records	18	57571588	57571588	Human	16	name
152146594	CV1615384	single nucleotide variant	NM_000140.5(FECH):c.315-19T>C	not provided [RCV002101569]	likely benign	18	57571559	57571559	Human		name
156411886	CV1972834	single nucleotide variant	NM_000140.5(FECH):c.194+20T>C	not provided [RCV002587638]	likely benign	18	57580053	57580053	Human		name
156093830	CV1980795	deletion	NM_000140.5(FECH):c.1137+8del	not provided [RCV002621957]	likely benign	18	57551307	57551307	Human		name
155945011	CV2039546	single nucleotide variant	NM_000140.5(FECH):c.804+10A>G	not provided [RCV002775428]	likely benign	18	57559135	57559135	Human		name
156097937	CV2042027	single nucleotide variant	NM_000140.5(FECH):c.315-14G>C	not provided [RCV002761201]	likely benign	18	57571554	57571554	Human		name
155926996	CV2070890	deletion	NM_000140.5(FECH):c.1077+1del	not provided [RCV002838576]	pathogenic	18	57554259	57554259	Human		name
405132757	CV2905302	single nucleotide variant	NM_000140.5(FECH):c.1137+2T>G	not provided [RCV003560048]	pathogenic	18	57551313	57551313	Human		name
405132353	CV2905303	single nucleotide variant	NM_000140.5(FECH):c.1078-1G>A	not provided [RCV003560049]	pathogenic	18	57551375	57551375	Human		name
402476328	CV2916974	single nucleotide variant	NM_000140.5(FECH):c.1138-6T>A	not provided [RCV003571487]	likely benign	18	57550852	57550852	Human		name
405130612	CV2953701	single nucleotide variant	NM_000140.5(FECH):c.805-15G>C	not provided [RCV003672374]	likely benign	18	57554967	57554967	Human		name
402465409	CV3177168	single nucleotide variant	NM_000140.5(FECH):c.1138-9A>G	not provided [RCV003872799]	likely benign	18	57550855	57550855	Human		name
402502449	CV3181091	single nucleotide variant	NM_000140.5(FECH):c.195-11A>G	not provided [RCV003878108]	likely benign	18	57573376	57573376	Human		name
407429520	CV3413907	single nucleotide variant	NM_000140.5(FECH):c.1078-5T>G	Protoporphyria, erythropoietic, 1 [RCV004595316]	uncertain significance	18	57551379	57551379	Human	1	name
11647207	CV342124	single nucleotide variant	NM_000140.5(FECH):c.912+14A>G	Protoporphyria, erythropoietic, 1 [RCV000275331]	uncertain significance	18	57554831	57554831	Human	1	name
11631055	CV348873	single nucleotide variant	NM_000140.5(FECH):c.913-13A>G	Protoporphyria, erythropoietic, 1 [RCV000367333]\|not provided [RCV002057463]	likely benign	18	57554437	57554437	Human	1	name
11631290	CV348875	single nucleotide variant	NM_000140.5(FECH):c.598+12T>A	Protoporphyria, erythropoietic, 1 [RCV000374026]\|not provided [RCV002057464]	benign\|likely benign\|uncertain significance	18	57566435	57566435	Human	1	name
28908092	CV880678	single nucleotide variant	NM_000140.5(FECH):c.1078-6A>G	Protoporphyria, erythropoietic, 1 [RCV001127989]	uncertain significance	18	57551380	57551380	Human	1	name
150332018	CV1163650	single nucleotide variant	NM_000140.5(FECH):c.464-299A>T	not provided [RCV001528045]	benign	18	57566880	57566880	Human		name
150452581	CV1219730	single nucleotide variant	NM_000140.5(FECH):c.1077+35C>T	not provided [RCV001612111]	benign	18	57554225	57554225	Human		name
150511704	CV1229528	single nucleotide variant	NM_000140.5(FECH):c.194+306C>T	not provided [RCV001637457]	benign	18	57579767	57579767	Human		name
150453660	CV1231857	single nucleotide variant	NM_000140.5(FECH):c.1138-61G>A	not provided [RCV001648164]	benign	18	57550907	57550907	Human		name
150454127	CV1232217	single nucleotide variant	NM_000140.5(FECH):c.195-111A>G	not provided [RCV001648230]	benign	18	57573476	57573476	Human		name
150474036	CV1234381	single nucleotide variant	NM_000140.5(FECH):c.706-198T>C	not provided [RCV001651701]	benign	18	57559441	57559441	Human		name
150431078	CV1243576	single nucleotide variant	NM_000140.5(FECH):c.194+187G>A	not provided [RCV001663196]	benign	18	57579886	57579886	Human		name
150473462	CV1252411	single nucleotide variant	NM_000140.5(FECH):c.804+263A>G	not provided [RCV001671613]	benign	18	57558882	57558882	Human		name
150492382	CV1253923	single nucleotide variant	NM_000140.5(FECH):c.705+211A>G	not provided [RCV001675019]	benign	18	57562663	57562663	Human		name
150489610	CV1267472	single nucleotide variant	NM_000140.5(FECH):c.599-255G>A	not provided [RCV001687495]	benign	18	57563235	57563235	Human		name
150455422	CV1268932	deletion	NM_000140.5(FECH):c.1078-51del	not provided [RCV001692756]	benign	18	57551425	57551425	Human		name
150458535	CV1269650	single nucleotide variant	NM_000140.5(FECH):c.599-112C>G	not provided [RCV001693190]	benign	18	57563092	57563092	Human		name
150470508	CV1269858	single nucleotide variant	NM_000140.5(FECH):c.804+123A>G	not provided [RCV001695145]	benign	18	57559022	57559022	Human		name
150448177	CV1270424	single nucleotide variant	NM_000140.5(FECH):c.315-279T>G	not provided [RCV001691561]	benign	18	57571819	57571819	Human		name
150475320	CV1271176	single nucleotide variant	NM_000140.5(FECH):c.598+301G>A	not provided [RCV001695999]	benign	18	57566146	57566146	Human		name
150497971	CV1271431	duplication	NM_000140.5(FECH):c.804+217dup	not provided [RCV001689121]	benign	18	57558920	57558921	Human		name
150449308	CV1273616	single nucleotide variant	NM_000140.5(FECH):c.804+279T>C	not provided [RCV001691716]	benign	18	57558866	57558866	Human		name
156107558	CV2002101	single nucleotide variant	NM_000140.5(FECH):c.1078-11A>T	not provided [RCV002639812]	likely benign	18	57551385	57551385	Human		name
156141928	CV2113044	single nucleotide variant	NM_000140.5(FECH):c.1137+18A>T	not provided [RCV002914941]	likely benign	18	57551297	57551297	Human		name
402492085	CV2949101	single nucleotide variant	NM_000140.5(FECH):c.1137+16C>T	not provided [RCV003660562]	likely benign	18	57551299	57551299	Human		name
405181254	CV3119937	single nucleotide variant	NM_000140.5(FECH):c.1077+12C>T	not provided [RCV003820030]	likely benign	18	57554248	57554248	Human		name
405174896	CV3123058	single nucleotide variant	NM_000140.5(FECH):c.1137+16C>A	not provided [RCV003819457]	likely benign	18	57551299	57551299	Human		name
150516647	CV1227168	single nucleotide variant	NM_000140.5(FECH):c.1077+252T>C	not provided [RCV001639266]	benign	18	57554008	57554008	Human		name
11627732	CV348778	microsatellite	NM_000140.5(FECH):c.*4793TTA[1]	Protoporphyria, erythropoietic, 1 [RCV000288066]	likely benign	18	57545914	57545916	Human		name
8555704	CV15596	single nucleotide variant	NM_000140.3(FECH):c.1078_1137del	Protoporphyria, erythropoietic, 1 [RCV000000587]\|not provided [RCV003555879]	pathogenic	18	57551317	57551317	Human	1	name
11653122	CV342102	microsatellite	NM_000140.5(FECH):c.*2436GTTTT[2]	Protoporphyria, erythropoietic, 1 [RCV000309205]	uncertain significance	18	57548262	57548266	Human		name
152169200	CV1636948	microsatellite	NM_000140.5(FECH):c.706-5_706-2del	not provided [RCV002182711]	likely benign	18	57559245	57559248	Human		name
11635858	CV347463	duplication	NM_000140.5(FECH):c.2459_2461dup	Protoporphyria, erythropoietic, 1 [RCV000406097]	uncertain significance	18	57548250	57548251	Human	1	name
11652969	CV331810	insertion	NM_000140.5(FECH):c.2451_2452insG	Protoporphyria, erythropoietic, 1 [RCV000308269]	uncertain significance	18	57548260	57548261	Human	1	name
11657792	CV331814	insertion	NM_000140.5(FECH):c.2450_2451insG	Protoporphyria, erythropoietic, 1 [RCV000344378]	uncertain significance	18	57548261	57548262	Human	1	name
11620893	CV342069	insertion	NM_000140.5(FECH):c.4883_4884insC	Protoporphyria, erythropoietic, 1 [RCV000341984]	likely benign	18	57545828	57545829	Human	1	name
11647897	CV348789	insertion	NM_000140.5(FECH):c.3753_3754insT	Protoporphyria, erythropoietic, 1 [RCV000278847]	uncertain significance	18	57546958	57546959	Human	1	name
150474332	CV1234433	deletion	NM_000140.5(FECH):c.913-62_913-61del	not provided [RCV001651753]	benign	18	57554485	57554486	Human		name
152102425	CV1579040	single nucleotide variant	NM_000140.5(FECH):c.34C>T (p.Leu12=)	not provided [RCV002079164]	benign	18	57586587	57586587	Human		name
156122080	CV2039913	single nucleotide variant	NM_000140.5(FECH):c.2T>C (p.Met1Thr)	not provided [RCV002785831]	uncertain significance	18	57586619	57586619	Human		name
11635854	CV347479	insertion	NM_000140.5(FECH):c.1287_1288insTA	Protoporphyria, erythropoietic, 1 [RCV000405606]	benign	18	57549424	57549425	Human	1	name
152131302	CV1523761	single nucleotide variant	NM_000140.5(FECH):c.291C>T (p.Asp97=)	not provided [RCV002136951]	benign	18	57573269	57573269	Human		name
152163727	CV1575497	single nucleotide variant	NM_000140.5(FECH):c.183A>G (p.Gln61=)	not provided [RCV002181389]	benign	18	57580084	57580084	Human		name
155800010	CV1862756	deletion	NM_000140.5(FECH):c.40del (p.Ala14fs)	Protoporphyria, erythropoietic, 1 [RCV002472163]\|not provided [RCV002571480]	pathogenic	18	57586581	57586581	Human	1	name
156335176	CV1905948	single nucleotide variant	NM_000140.5(FECH):c.186G>A (p.Pro62=)	not provided [RCV003090026]	likely benign	18	57580081	57580081	Human		name
156418428	CV1911095	single nucleotide variant	NM_000140.5(FECH):c.10C>T (p.Leu4Phe)	Inborn genetic diseases [RCV004978681]\|not provided [RCV002611617]	uncertain significance	18	57586611	57586611	Human	1	name
156013784	CV1912596	single nucleotide variant	NM_000140.5(FECH):c.258C>T (p.His86=)	not provided [RCV002619039]	likely benign	18	57573302	57573302	Human		name
405081770	CV3046766	single nucleotide variant	NM_000140.5(FECH):c.117T>C (p.Gly39=)	not provided [RCV003717191]	likely benign	18	57580150	57580150	Human		name
405134825	CV3160189	single nucleotide variant	NM_000140.5(FECH):c.132C>G (p.Ala44=)	not provided [RCV003855004]	likely benign	18	57580135	57580135	Human		name
11622802	CV342145	single nucleotide variant	NM_000140.5(FECH):c.132C>T (p.Ala44=)	Protoporphyria, erythropoietic, 1 [RCV000364881]\|not provided [RCV002057465]	likely benign	18	57580135	57580135	Human	1	name
597846436	CV3746243	single nucleotide variant	NM_000140.5(FECH):c.129G>A (p.Ala43=)	not provided [RCV005060061]	likely benign	18	57580138	57580138	Human		name
597876434	CV3809797	single nucleotide variant	NM_000140.5(FECH):c.210A>G (p.Gly70=)	not provided [RCV005151518]	likely benign	18	57573350	57573350	Human		name
15185238	CV786948	single nucleotide variant	NM_000140.5(FECH):c.201G>A (p.Pro67=)	not provided [RCV000976612]	likely benign	18	57573359	57573359	Human		name
38459103	CV918495	deletion	NM_000140.5(FECH):c.47del (p.Gly16fs)	Autosomal erythropoietic protoporphyria [RCV001195535]	likely pathogenic	18	57586574	57586574	Human	1	name
151787546	CV1471315	duplication	NM_000140.5(FECH):c.253dup (p.Val85fs)	not provided [RCV001972708]	pathogenic	18	57573306	57573307	Human		name
152146559	CV1590530	single nucleotide variant	NM_000140.5(FECH):c.606C>T (p.Ser202=)	not provided [RCV002220140]	likely benign	18	57562973	57562973	Human		name
152062246	CV1611489	single nucleotide variant	NM_000140.5(FECH):c.843C>T (p.Ser281=)	not provided [RCV002146914]	likely benign	18	57554914	57554914	Human		name
152081307	CV1619466	single nucleotide variant	NM_000140.5(FECH):c.798C>A (p.Pro266=)	not provided [RCV002092882]	likely benign	18	57559151	57559151	Human		name
152038967	CV1644325	single nucleotide variant	NM_000140.5(FECH):c.876G>A (p.Glu292=)	not provided [RCV002165401]	likely benign	18	57554881	57554881	Human		name
156111117	CV2034980	single nucleotide variant	NM_000140.5(FECH):c.639G>T (p.Val213=)	not provided [RCV002761697]	likely benign	18	57562940	57562940	Human		name
156357933	CV2126208	single nucleotide variant	NM_000140.5(FECH):c.384C>T (p.Gly128=)	FECH-related disorder [RCV003943654]\|not provided [RCV002966791]	benign\|likely benign	18	57571471	57571471	Human	1	name , trait , alternate_id
156263058	CV2201135	single nucleotide variant	NM_000140.5(FECH):c.47G>A (p.Gly16Asp)	Inborn genetic diseases [RCV002669074]	uncertain significance	18	57586574	57586574	Human	1	name
329376214	CV2431768	single nucleotide variant	NM_000140.5(FECH):c.37C>A (p.Arg13Ser)	Inborn genetic diseases [RCV003174071]	uncertain significance	18	57586584	57586584	Human	1	name
11544507	CV256682	single nucleotide variant	NM_000140.5(FECH):c.921A>G (p.Pro307=)	Protoporphyria, erythropoietic, 1 [RCV000271830]\|not provided [RCV001512749]\|not specified [RCV000243889]	benign	18	57554416	57554416	Human	1	name
11551878	CV256683	single nucleotide variant	NM_000140.5(FECH):c.798C>G (p.Pro266=)	Protoporphyria, erythropoietic, 1 [RCV000317195]\|not provided [RCV001512750]\|not specified [RCV000253626]	benign	18	57559151	57559151	Human	1	name
401961269	CV2844654	duplication	NM_000140.5(FECH):c.215dup (p.Leu72fs)	not provided [RCV003480451]	pathogenic	18	57573344	57573345	Human		name
405158694	CV3152603	single nucleotide variant	NM_000140.5(FECH):c.333C>T (p.Ile111=)	not provided [RCV003840530]	likely benign	18	57571522	57571522	Human		name
405289175	CV3205023	single nucleotide variant	NM_000140.5(FECH):c.315T>C (p.Asn105=)	FECH-related disorder [RCV003961644]	likely benign	18	57571540	57571540	Human		name , trait , alternate_id
407453369	CV3414328	duplication	NM_000140.5(FECH):c.205dup (p.Thr69fs)	Protoporphyria, erythropoietic, 1 [RCV004596664]\|not provided [RCV005102057]	pathogenic	18	57573354	57573355	Human	1	name
11624723	CV342126	single nucleotide variant	NM_000140.5(FECH):c.819C>T (p.Gly273=)	Protoporphyria, erythropoietic, 1 [RCV000389543]\|not provided [RCV002523047]	likely benign\|uncertain significance	18	57554938	57554938	Human	1	name
11635174	CV348824	insertion	NM_000140.5(FECH):c.1287_1288insTTTA	Protoporphyria, erythropoietic, 1 [RCV000311212]\|not provided [RCV004694408]	uncertain significance	18	57549424	57549425	Human	1	name
596926019	CV3539718	single nucleotide variant	NM_000140.5(FECH):c.53T>C (p.Leu18Pro)	not provided [RCV004790709]	uncertain significance	18	57586568	57586568	Human		name
597653192	CV3676216	single nucleotide variant	NM_000140.5(FECH):c.28G>A (p.Ala10Thr)	Inborn genetic diseases [RCV004975016]	uncertain significance	18	57586593	57586593	Human	1	name
597848588	CV3746492	single nucleotide variant	NM_000140.5(FECH):c.411C>T (p.Ser137=)	not provided [RCV005060311]	likely benign	18	57571444	57571444	Human		name
597840191	CV3756047	single nucleotide variant	NM_000140.5(FECH):c.44C>T (p.Ala15Val)	not provided [RCV005086319]	uncertain significance	18	57586577	57586577	Human		name
597838457	CV3773889	single nucleotide variant	NM_000140.5(FECH):c.318G>A (p.Lys106=)	not provided [RCV005111610]	likely benign	18	57571537	57571537	Human		name
597852275	CV3779160	single nucleotide variant	NM_000140.5(FECH):c.724C>T (p.Leu242=)	not provided [RCV005127237]	likely benign	18	57559225	57559225	Human		name
597850129	CV3784380	single nucleotide variant	NM_000140.5(FECH):c.439C>T (p.Leu147=)	not provided [RCV005125368]	likely benign	18	57571416	57571416	Human		name
597856781	CV3788781	single nucleotide variant	NM_000140.5(FECH):c.94C>T (p.Gln32Ter)	not provided [RCV005131260]	pathogenic	18	57580173	57580173	Human		name
597882808	CV3811346	single nucleotide variant	NM_000140.5(FECH):c.591C>T (p.Ser197=)	not provided [RCV005157861]	likely benign	18	57566454	57566454	Human		name
15134892	CV758694	single nucleotide variant	NM_000140.5(FECH):c.654G>A (p.Thr218=)	not provided [RCV000920762]	likely benign	18	57562925	57562925	Human		name
126730655	CV1001060	single nucleotide variant	NM_000140.5(FECH):c.175C>T (p.Gln59Ter)	not provided [RCV001310390]	pathogenic	18	57580092	57580092	Human		name
150338689	CV1174368	single nucleotide variant	NM_000140.5(FECH):c.181C>T (p.Gln61Ter)	Protoporphyria, erythropoietic, 1 [RCV001542796]	likely pathogenic	18	57580086	57580086	Human	1	name
150544193	CV1313191	single nucleotide variant	NM_000140.5(FECH):c.286C>T (p.Arg96Ter)	Protoporphyria, erythropoietic, 1 [RCV001783269]\|not provided [RCV002541144]	pathogenic\|likely pathogenic	18	57573274	57573274	Human	1	name
151804249	CV1430550	deletion	NM_000140.5(FECH):c.945del (p.Asp316fs)	not provided [RCV001899348]	pathogenic	18	57554392	57554392	Human		name
151816471	CV1433101	single nucleotide variant	NM_000140.5(FECH):c.155A>T (p.His52Leu)	not provided [RCV001954332]	uncertain significance	18	57580112	57580112	Human		name
151870465	CV1466503	deletion	NM_000140.5(FECH):c.843del (p.Ser281fs)	not provided [RCV001906410]	pathogenic	18	57554914	57554914	Human		name
151846495	CV1501796	single nucleotide variant	NM_000140.5(FECH):c.112T>G (p.Ser38Ala)	not provided [RCV002015983]	uncertain significance	18	57580155	57580155	Human		name
152104012	CV1544624	single nucleotide variant	NM_000140.5(FECH):c.163G>A (p.Gly55Ser)	FECH-related disorder [RCV003923632]\|not provided [RCV002115711]	benign	18	57580104	57580104	Human	1	name , trait , alternate_id
152114296	CV1552925	single nucleotide variant	NM_000140.5(FECH):c.1176C>T (p.Asn392=)	not provided [RCV002197195]	likely benign	18	57550808	57550808	Human		name
152085059	CV1555004	single nucleotide variant	NM_000140.5(FECH):c.1146C>T (p.Ala382=)	FECH-related disorder [RCV003911269]\|not provided [RCV002211932]	likely benign	18	57550838	57550838	Human	1	name , trait , alternate_id
8595027	CV15587	single nucleotide variant	NM_000140.5(FECH):c.163G>T (p.Gly55Cys)	Protoporphyria, erythropoietic, 1 [RCV000000578]\|not provided [RCV001517622]\|not specified [RCV000455178]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	18	57580104	57580104	Human	1	name
156381248	CV1868311	deletion	NM_000140.5(FECH):c.963del (p.Leu322fs)	not provided [RCV003050503]	pathogenic	18	57554374	57554374	Human		name
155914197	CV2066070	single nucleotide variant	NM_000140.5(FECH):c.232G>A (p.Gly78Ser)	not provided [RCV002837938]	uncertain significance	18	57573328	57573328	Human		name
155998757	CV2106629	single nucleotide variant	NM_000140.5(FECH):c.104G>A (p.Arg35Lys)	not provided [RCV002947685]	likely benign\|uncertain significance	18	57580163	57580163	Human		name
156065517	CV2240300	single nucleotide variant	NM_000140.5(FECH):c.161A>G (p.Gln54Arg)	Inborn genetic diseases [RCV002782865]	likely benign	18	57580106	57580106	Human	1	name
156272942	CV2283720	single nucleotide variant	NM_000140.5(FECH):c.115G>A (p.Gly39Ser)	Inborn genetic diseases [RCV002832423]	uncertain significance	18	57580152	57580152	Human	1	name
405025900	CV2889805	single nucleotide variant	NM_000140.5(FECH):c.1032G>A (p.Thr344=)	not provided [RCV003577978]\|not specified [RCV004701723]	likely benign	18	57554305	57554305	Human		name
405240432	CV2892682	duplication	NM_000140.5(FECH):c.954dup (p.Ile319fs)	not provided [RCV003557217]	pathogenic	18	57554382	57554383	Human		name
405131968	CV2905304	single nucleotide variant	NM_000140.5(FECH):c.1077G>A (p.Glu359=)	FECH-related disorder [RCV004755002]\|not provided [RCV003560050]	pathogenic	18	57554260	57554260	Human	1	name , trait , alternate_id
405047108	CV3014312	single nucleotide variant	NM_000140.5(FECH):c.140C>G (p.Thr47Arg)	FECH-related disorder [RCV003956472]\|not provided [RCV003696739]	likely benign	18	57580127	57580127	Human	1	name , trait , alternate_id
405264040	CV3189914	single nucleotide variant	NM_000140.5(FECH):c.1152G>A (p.Leu384=)	FECH-related disorder [RCV003896960]	likely benign	18	57550832	57550832	Human		name , trait , alternate_id
405743596	CV3257097	single nucleotide variant	NM_000140.5(FECH):c.200C>T (p.Pro67Leu)	Inborn genetic diseases [RCV004391714]	uncertain significance	18	57573360	57573360	Human	1	name
405743604	CV3257098	single nucleotide variant	NM_000140.5(FECH):c.259G>A (p.Asp87Asn)	Inborn genetic diseases [RCV004391715]	uncertain significance	18	57573301	57573301	Human	1	name
11615456	CV331897	single nucleotide variant	NM_000140.5(FECH):c.287G>A (p.Arg96Gln)	Protoporphyria, erythropoietic, 1 [RCV000285620]\|not provided [RCV001521397]	benign	18	57573273	57573273	Human	1	name
11620936	CV331901	single nucleotide variant	NM_000140.5(FECH):c.202A>G (p.Lys68Glu)	Protoporphyria, erythropoietic, 1 [RCV000342940]	uncertain significance	18	57573358	57573358	Human	1	name
11617789	CV342134	single nucleotide variant	NM_000140.5(FECH):c.139A>G (p.Thr47Ala)	Inborn genetic diseases [RCV002521171]\|Protoporphyria, erythropoietic, 1 [RCV000307911]\|not provided [RCV004791412]	likely benign\|uncertain significance	18	57580128	57580128	Human	2	name
407483587	CV3438957	single nucleotide variant	NM_000140.5(FECH):c.134T>C (p.Val45Ala)	Inborn genetic diseases [RCV004618599]	likely benign	18	57580133	57580133	Human	1	name
597623062	CV3552420	deletion	NM_000140.5(FECH):c.400del (p.Ile134fs)	Protoporphyria, erythropoietic, 1 [RCV004821366]	pathogenic	18	57571455	57571455	Human	1	name
597897659	CV3744642	single nucleotide variant	NM_000140.5(FECH):c.275T>C (p.Leu92Pro)	not provided [RCV005071922]	uncertain significance	18	57573285	57573285	Human		name
597859903	CV3782782	single nucleotide variant	NM_000140.5(FECH):c.230G>A (p.Gly77Glu)	not provided [RCV005134322]	uncertain significance	18	57573330	57573330	Human		name
597910042	CV3840612	single nucleotide variant	NM_000140.5(FECH):c.128C>T (p.Ala43Val)	not provided [RCV005185083]	uncertain significance	18	57580139	57580139	Human		name
14693155	CV620624	single nucleotide variant	NM_000140.5(FECH):c.185C>G (p.Pro62Arg)	not provided [RCV001452437]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	57580082	57580082	Human		name
21068812	CV791875	deletion	NM_000140.5(FECH):c.365del (p.Gln122fs)	Protoporphyria, erythropoietic, 1 [RCV000990109]	likely pathogenic	18	57571490	57571490	Human	1	name
41407642	CV980384	single nucleotide variant	NM_000140.5(FECH):c.229G>A (p.Gly77Arg)	Protoporphyria, erythropoietic, 1 [RCV001280888]	uncertain significance	18	57573331	57573331	Human	1	name
126746932	CV1018447	single nucleotide variant	NM_000140.5(FECH):c.959A>G (p.Lys320Arg)	Protoporphyria, erythropoietic, 1 [RCV001331015]\|not provided [RCV001863233]	uncertain significance	18	57554378	57554378	Human	1	name
150335973	CV1173145	deletion	NM_000140.5(FECH):c.1077+117_1077+123del	not provided [RCV001540784]	benign	18	57554137	57554143	Human		name
151876777	CV1360313	single nucleotide variant	NM_000140.5(FECH):c.307A>C (p.Ile103Leu)	not provided [RCV001907162]	uncertain significance	18	57573253	57573253	Human		name
151788960	CV1377118	single nucleotide variant	NM_000140.5(FECH):c.680G>A (p.Trp227Ter)	not provided [RCV001897991]	pathogenic	18	57562899	57562899	Human		name
151884927	CV1428985	single nucleotide variant	NM_000140.5(FECH):c.665G>A (p.Ser222Asn)	not provided [RCV002000377]	uncertain significance	18	57562914	57562914	Human		name
151803501	CV1442522	single nucleotide variant	NM_000140.5(FECH):c.346A>C (p.Thr116Pro)	not provided [RCV002011784]	uncertain significance	18	57571509	57571509	Human		name
151806063	CV1462500	single nucleotide variant	NM_000140.5(FECH):c.463G>C (p.Ala155Pro)	not provided [RCV001991384]	likely pathogenic	18	57571392	57571392	Human		name
151870516	CV1466514	single nucleotide variant	NM_000140.5(FECH):c.627C>A (p.Tyr209Ter)	not provided [RCV001906416]	pathogenic	18	57562952	57562952	Human		name
8595028	CV15588	single nucleotide variant	NM_000140.5(FECH):c.801G>A (p.Met267Ile)	Protoporphyria, erythropoietic, 1 [RCV000000579]\|not provided [RCV001794424]	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	57559148	57559148	Human	1	name
8555705	CV15597	deletion	NM_000140.5(FECH):c.1136del (p.Lys379fs)	FECH-related disorder [RCV004754228]\|Protoporphyria, erythropoietic, 1 [RCV000000588]\|not provided [RCV003555880]	pathogenic\|likely pathogenic	18	57551316	57551316	Human	2	name , trait , alternate_id
152156947	CV1668843	single nucleotide variant	NM_000140.5(FECH):c.502C>T (p.Pro168Ser)	not specified [RCV002223069]	uncertain significance	18	57566543	57566543	Human		name
153303192	CV1686157	single nucleotide variant	NM_000140.5(FECH):c.836A>T (p.Glu279Val)	not provided [RCV002261590]	uncertain significance	18	57554921	57554921	Human		name
153303197	CV1686158	single nucleotide variant	NM_000140.5(FECH):c.452C>T (p.Ser151Phe)	not provided [RCV002261591]	uncertain significance	18	57571403	57571403	Human		name
155643474	CV1706746	single nucleotide variant	NM_000140.5(FECH):c.892C>T (p.Arg298Ter)	See cases [RCV004584560]\|not provided [RCV003546754]	pathogenic	18	57554865	57554865	Human		name
156180757	CV1868314	single nucleotide variant	NM_000140.5(FECH):c.490C>T (p.Arg164Trp)	not provided [RCV003041336]	uncertain significance	18	57566555	57566555	Human		name
156381262	CV1868315	single nucleotide variant	NM_000140.5(FECH):c.479A>G (p.Tyr160Cys)	not provided [RCV003050504]	uncertain significance	18	57566566	57566566	Human		name
156061672	CV1975154	single nucleotide variant	NM_000140.5(FECH):c.589T>A (p.Ser197Thr)	Inborn genetic diseases [RCV002590999]\|not provided [RCV002590998]	uncertain significance	18	57566456	57566456	Human	1	name
156105455	CV1992216	single nucleotide variant	NM_000140.5(FECH):c.815G>A (p.Arg272Lys)	not provided [RCV002622369]	uncertain significance	18	57554942	57554942	Human		name
156013126	CV2008971	single nucleotide variant	NM_000140.5(FECH):c.581A>G (p.Tyr194Cys)	not provided [RCV002690624]	uncertain significance	18	57566464	57566464	Human		name
156028136	CV2116650	single nucleotide variant	NM_000140.5(FECH):c.586T>C (p.Cys196Arg)	not provided [RCV002923390]	uncertain significance	18	57566459	57566459	Human		name
156380130	CV2211805	single nucleotide variant	NM_000140.5(FECH):c.496G>A (p.Val166Ile)	Inborn genetic diseases [RCV002722342]\|not provided [RCV005059218]	uncertain significance	18	57566549	57566549	Human	1	name
156194762	CV2309465	single nucleotide variant	NM_000140.5(FECH):c.623G>A (p.Arg208Lys)	Inborn genetic diseases [RCV002892762]	uncertain significance	18	57562956	57562956	Human	1	name
156082526	CV2384859	single nucleotide variant	NM_000140.5(FECH):c.653C>T (p.Thr218Met)	Inborn genetic diseases [RCV002694599]	uncertain significance	18	57562926	57562926	Human	1	name
329399007	CV2428689	single nucleotide variant	NM_000140.5(FECH):c.800T>C (p.Met267Thr)	Inborn genetic diseases [RCV003196415]\|not provided [RCV005101238]	uncertain significance	18	57559149	57559149	Human	1	name
401732615	CV2691058	single nucleotide variant	NM_000140.5(FECH):c.953C>G (p.Ser318Cys)	Inborn genetic diseases [RCV003290232]	uncertain significance	18	57554384	57554384	Human	1	name
401796130	CV2739496	single nucleotide variant	NM_000140.5(FECH):c.343C>T (p.Arg115Ter)	Protoporphyria, erythropoietic, 1 [RCV003319144]\|not provided [RCV003561295]	pathogenic\|likely pathogenic	18	57571512	57571512	Human	1	name
401926167	CV2803437	single nucleotide variant	NM_000140.5(FECH):c.835G>A (p.Glu279Lys)	FECH-related disorder [RCV003405868]\|Protoporphyria, erythropoietic, 1 [RCV004596583]	likely pathogenic\|uncertain significance	18	57554922	57554922	Human	2	name , trait , alternate_id
401961079	CV2844483	single nucleotide variant	NM_000140.5(FECH):c.656T>G (p.Met219Arg)	not provided [RCV003480278]	uncertain significance	18	57562923	57562923	Human		name
401961080	CV2844484	single nucleotide variant	NM_000140.5(FECH):c.613G>A (p.Ala205Thr)	not provided [RCV003480279]	uncertain significance	18	57562966	57562966	Human		name
402505561	CV2884449	single nucleotide variant	NM_000140.5(FECH):c.671T>C (p.Ile224Thr)	not provided [RCV003546326]	uncertain significance	18	57562908	57562908	Human		name
405131945	CV2905305	single nucleotide variant	NM_000140.5(FECH):c.930G>A (p.Trp310Ter)	not provided [RCV003560051]	pathogenic	18	57554407	57554407	Human		name
405131527	CV2905309	single nucleotide variant	NM_000140.5(FECH):c.643C>T (p.Arg215Trp)	not provided [RCV003560055]	uncertain significance	18	57562936	57562936	Human		name
405131515	CV2905310	single nucleotide variant	NM_000140.5(FECH):c.451T>C (p.Ser151Pro)	not provided [RCV003560056]	uncertain significance	18	57571404	57571404	Human		name
405123767	CV2942447	single nucleotide variant	NM_000140.5(FECH):c.590C>T (p.Ser197Phe)	Protoporphyria, erythropoietic, 1 [RCV005254850]\|not provided [RCV003671650]	uncertain significance	18	57566455	57566455	Human	1	name
405120454	CV2952318	single nucleotide variant	NM_000140.5(FECH):c.803C>T (p.Ser268Phe)	not provided [RCV003671416]	uncertain significance	18	57559146	57559146	Human		name
405182395	CV2952590	single nucleotide variant	NM_000140.5(FECH):c.689A>C (p.His230Pro)	not provided [RCV003676354]	uncertain significance	18	57562890	57562890	Human		name
405198558	CV2973013	single nucleotide variant	NM_000140.5(FECH):c.947A>G (p.Asp316Gly)	not provided [RCV003677887]	uncertain significance	18	57554390	57554390	Human		name
402488766	CV2984349	single nucleotide variant	NM_000140.5(FECH):c.621C>A (p.Tyr207Ter)	not provided [RCV003713567]	pathogenic	18	57562958	57562958	Human		name
405123904	CV3021090	single nucleotide variant	NM_000140.5(FECH):c.885C>A (p.Asn295Lys)	not provided [RCV003701047]	uncertain significance	18	57554872	57554872	Human		name
405229935	CV3073065	single nucleotide variant	NM_000140.5(FECH):c.949G>A (p.Glu317Lys)	FECH-related disorder [RCV003939198]\|not provided [RCV003734720]	benign\|likely benign	18	57554388	57554388	Human	1	name , trait , alternate_id
405146492	CV3126528	single nucleotide variant	NM_000140.5(FECH):c.793C>G (p.Leu265Val)	not provided [RCV003817255]	uncertain significance	18	57559156	57559156	Human		name
405719044	CV3227810	single nucleotide variant	NM_000140.5(FECH):c.672T>G (p.Ile224Met)	Protoporphyria, erythropoietic, 1 [RCV003992642]	likely pathogenic	18	57562907	57562907	Human	1	name
405743611	CV3257099	single nucleotide variant	NM_000140.5(FECH):c.874G>C (p.Glu292Gln)	Inborn genetic diseases [RCV004391716]	uncertain significance	18	57554883	57554883	Human	1	name
405743617	CV3257100	single nucleotide variant	NM_000140.5(FECH):c.951A>T (p.Glu317Asp)	Inborn genetic diseases [RCV004391717]	uncertain significance	18	57554386	57554386	Human	1	name
11615048	CV331895	single nucleotide variant	NM_000140.5(FECH):c.514G>A (p.Glu172Lys)	Protoporphyria, erythropoietic, 1 [RCV000281919]\|not provided [RCV000898557]	benign\|likely benign	18	57566531	57566531	Human	1	name
11620636	CV342128	single nucleotide variant	NM_000140.5(FECH):c.385G>A (p.Gly129Arg)	Protoporphyria, erythropoietic, 1 [RCV000339418]	likely benign	18	57571470	57571470	Human	1	name
11624813	CV342132	single nucleotide variant	NM_000140.5(FECH):c.362A>G (p.Glu121Gly)	Protoporphyria, erythropoietic, 1 [RCV000391250]\|See cases [RCV002252096]\|not provided [RCV001859931]\|not specified [RCV000455865]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	18	57571493	57571493	Human	1	name
407454050	CV3438958	single nucleotide variant	NM_000140.5(FECH):c.652A>G (p.Thr218Ala)	Inborn genetic diseases [RCV004609292]	uncertain significance	18	57562927	57562927	Human	1	name
407483590	CV3438959	single nucleotide variant	NM_000140.5(FECH):c.656T>C (p.Met219Thr)	Inborn genetic diseases [RCV004618600]	uncertain significance	18	57562923	57562923	Human	1	name
11660073	CV347492	single nucleotide variant	NM_000140.5(FECH):c.935G>T (p.Gly312Val)	Protoporphyria, erythropoietic, 1 [RCV000364002]	uncertain significance	18	57554402	57554402	Human	1	name
11629784	CV348874	single nucleotide variant	NM_000140.5(FECH):c.854A>G (p.Gln285Arg)	Protoporphyria, erythropoietic, 1 [RCV000332701]	pathogenic\|likely pathogenic	18	57554903	57554903	Human	1	name
408366161	CV3516248	single nucleotide variant	NM_000140.5(FECH):c.808G>T (p.Val270Phe)	FECH-related disorder [RCV004755646]	uncertain significance	18	57554949	57554949	Human		name , trait , alternate_id
597653180	CV3676213	single nucleotide variant	NM_000140.5(FECH):c.920C>T (p.Pro307Leu)	Inborn genetic diseases [RCV004975014]	uncertain significance	18	57554417	57554417	Human	1	name
597653199	CV3676217	single nucleotide variant	NM_000140.5(FECH):c.721A>G (p.Ile241Val)	Inborn genetic diseases [RCV004975017]	uncertain significance	18	57559228	57559228	Human	1	name
597897649	CV3744641	single nucleotide variant	NM_000140.5(FECH):c.606C>G (p.Ser202Arg)	not provided [RCV005071921]	uncertain significance	18	57562973	57562973	Human		name
597929194	CV3854245	single nucleotide variant	NM_000140.5(FECH):c.903G>A (p.Trp301Ter)	not provided [RCV005203515]	pathogenic	18	57554854	57554854	Human		name
597929203	CV3854246	single nucleotide variant	NM_000140.5(FECH):c.874G>T (p.Glu292Ter)	not provided [RCV005203516]	pathogenic	18	57554883	57554883	Human		name
597929213	CV3854247	single nucleotide variant	NM_000140.5(FECH):c.791C>T (p.Ser264Leu)	not provided [RCV005203517]	likely pathogenic	18	57559158	57559158	Human		name
597929223	CV3854248	single nucleotide variant	NM_000140.5(FECH):c.734T>C (p.Leu245Pro)	not provided [RCV005203518]	uncertain significance	18	57559215	57559215	Human		name
597929231	CV3854250	single nucleotide variant	NM_000140.5(FECH):c.707G>A (p.Cys236Tyr)	not provided [RCV005203520]	likely pathogenic	18	57559242	57559242	Human		name
597929240	CV3854252	single nucleotide variant	NM_000140.5(FECH):c.485G>A (p.Gly162Glu)	not provided [RCV005203522]	uncertain significance	18	57566560	57566560	Human		name
597921611	CV3860802	duplication	NM_000140.5(FECH):c.1012dup (p.Thr338fs)	not provided [RCV005196330]	pathogenic	18	57554324	57554325	Human		name
598216160	CV3891460	single nucleotide variant	NM_000140.5(FECH):c.863T>C (p.Met288Thr)	Protoporphyria, erythropoietic, 1 [RCV005252302]	likely pathogenic	18	57554894	57554894	Human	1	name
8602375	CV39908	single nucleotide variant	NM_000140.5(FECH):c.553G>A (p.Ala185Thr)	Protoporphyria, erythropoietic, 1 [RCV000023941]	pathogenic	18	57566492	57566492	Human	1	name
598209442	CV4007882	single nucleotide variant	NM_000140.5(FECH):c.427A>G (p.Met143Val)	Protoporphyria, erythropoietic, 1 [RCV005400196]	uncertain significance	18	57571428	57571428	Human	1	name
14396342	CV612137	single nucleotide variant	NM_000140.5(FECH):c.913G>T (p.Val305Phe)	Protoporphyria, erythropoietic, 1 [RCV000761276]\|not provided [RCV001855938]	likely pathogenic	18	57554424	57554424	Human	1	name
14693153	CV620623	single nucleotide variant	NM_000140.5(FECH):c.820G>A (p.Asp274Asn)	Protoporphyria, erythropoietic, 1 [RCV000778533]\|not provided [RCV003558581]	pathogenic	18	57554937	57554937	Human	1	name
8636536	CV91761	single nucleotide variant	NM_001012515.2(FECH):c.279C>T (p.Asp93=)	Malignant melanoma [RCV000071859]	not provided	18	57573299	57573299	Human		name
151871153	CV1340505	single nucleotide variant	NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr)	Protoporphyria, erythropoietic, 1 [RCV002074436]\|not provided [RCV001939820]	pathogenic\|likely pathogenic\|uncertain significance	18	57550767	57550767	Human	1	name
151761148	CV1343329	single nucleotide variant	NM_000140.5(FECH):c.1147G>A (p.Asp383Asn)	not provided [RCV002024382]	uncertain significance	18	57550837	57550837	Human		name
151887123	CV1471897	single nucleotide variant	NM_000140.5(FECH):c.1213C>T (p.Leu405Phe)	not provided [RCV002000820]	uncertain significance	18	57550771	57550771	Human		name
151779884	CV1472471	single nucleotide variant	NM_000140.5(FECH):c.1253T>G (p.Phe418Cys)	not provided [RCV002026158]	uncertain significance	18	57550731	57550731	Human		name
8595029	CV15590	single nucleotide variant	NM_000140.5(FECH):c.1250T>C (p.Phe417Ser)	Protoporphyria, erythropoietic, 1 [RCV000000581]	pathogenic	18	57550734	57550734	Human	1	name
8595030	CV15593	single nucleotide variant	NM_000140.5(FECH):c.1085T>G (p.Val362Gly)	Protoporphyria, erythropoietic, 1 [RCV000000584]	pathogenic	18	57551367	57551367	Human	1	name
155979348	CV2340041	single nucleotide variant	NM_000140.5(FECH):c.1037A>G (p.Tyr346Cys)	Inborn genetic diseases [RCV002973695]	uncertain significance	18	57554300	57554300	Human	1	name
329952064	CV2668799	single nucleotide variant	NM_000140.5(FECH):c.1264C>T (p.Gln422Ter)	not specified [RCV003230880]	uncertain significance	18	57550720	57550720	Human		name
405194175	CV2925671	single nucleotide variant	NM_000140.5(FECH):c.1136A>G (p.Lys379Arg)	not provided [RCV003565193]	uncertain significance	18	57551316	57551316	Human		name
408385176	CV3505844	single nucleotide variant	NM_000140.5(FECH):c.1099A>T (p.Arg367Ter)	FECH-related disorder [RCV004732458]	pathogenic	18	57551353	57551353	Human		name , trait , alternate_id
12791691	CV362176	single nucleotide variant	NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)	Protoporphyria, erythropoietic, 1 [RCV000416464]\|not provided [RCV001861467]	pathogenic\|likely pathogenic	18	57554336	57554336	Human	1	name
597653185	CV3676215	single nucleotide variant	NM_000140.5(FECH):c.1177G>A (p.Glu393Lys)	Inborn genetic diseases [RCV004975015]	uncertain significance	18	57550807	57550807	Human	1	name
597848472	CV3783550	single nucleotide variant	NM_000140.5(FECH):c.1168C>T (p.Gln390Ter)	not provided [RCV005124046]	pathogenic	18	57550816	57550816	Human		name
151727057	CV38381	single nucleotide variant	NM_000140.5(FECH):c.1231T>G (p.Cys411Gly)	not provided [RCV001857788]	pathogenic\|likely pathogenic\|uncertain significance	18	57550753	57550753	Human		name
597929175	CV3854240	single nucleotide variant	NM_000140.5(FECH):c.1233C>A (p.Cys411Ter)	not provided [RCV005203510]	pathogenic	18	57550751	57550751	Human		name
127265675	CV1064573	microsatellite	NM_000140.5(FECH):c.901_902del (p.Trp301fs)	FECH-related disorder [RCV003399198]\|Protoporphyria, erythropoietic, 1 [RCV003234795]\|not provided [RCV001381521]	pathogenic	18	57554855	57554856	Human		name , trait , alternate_id
8555707	CV15599	deletion	NM_000140.5(FECH):c.580_584del (p.Tyr194fs)	Protoporphyria, erythropoietic, 1 [RCV000000590]\|not provided [RCV003555881]	pathogenic	18	57566461	57566465	Human	1	name
597623060	CV3552418	microsatellite	NM_000140.5(FECH):c.757_761del (p.Ser254fs)	Protoporphyria, erythropoietic, 1 [RCV004821364]	pathogenic	18	57559188	57559192	Human		name
597929167	CV3854239	microsatellite	NM_000140.5(FECH):c.1249TTC[1] (p.Phe418del)	not provided [RCV005203509]	uncertain significance	18	57550730	57550732	Human		name
151839337	CV1364131	deletion	NM_000140.5(FECH):c.63_67delTCCGC (p.Pro22fs)	not provided [RCV001994543]	pathogenic	18	57586554	57586558	Human		name
156351203	CV1978405	deletion	NM_000140.5(FECH):c.1025_1026del (p.Ile342fs)	not provided [RCV002601838]	pathogenic	18	57554311	57554312	Human		name
329848376	CV2523073	duplication	NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)	Autosomal erythropoietic protoporphyria [RCV003224833]	pathogenic	18	57554284	57554285	Human	1	name
597897641	CV3744640	deletion	NM_000140.5(FECH):c.1041_1048del (p.Glu347fs)	not provided [RCV005071920]	pathogenic	18	57554289	57554296	Human		name
597929184	CV3854244	microsatellite	NM_000140.5(FECH):c.1059_1060del (p.Gln354fs)	not provided [RCV005203514]	pathogenic	18	57554277	57554278	Human		name
126755600	CV998252	indel	NM_000140.5(FECH):c.14_15delinsAA (p.Gly5Glu)	not provided [RCV001298389]	uncertain significance	18	57586606	57586607	Human		name
11664496	CV348829	indel	NM_000140.5(FECH):c.1170_1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA	Protoporphyria, erythropoietic, 1 [RCV000406432]	uncertain significance	18	57549536	57549542	Human		name
126738396	CV1018821	single nucleotide variant	NM_002473.6(MYH9):c.901C>T (p.Arg301Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001328950]	uncertain significance	22	36320331	36320331	Human	1	alternate_id
126738404	CV1018822	single nucleotide variant	NM_002473.6(MYH9):c.97T>C (p.Trp33Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001328951]	pathogenic	22	36349140	36349140	Human	1	alternate_id
127234643	CV1108940	single nucleotide variant	NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506525]\|not provided [RCV003727996]\|not specified [RCV001449823]	benign\|uncertain significance	22	36285755	36285755	Human	1	alternate_id
150337212	CV1166391	single nucleotide variant	NM_002473.6(MYH9):c.5564G>A (p.Arg1855Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038251]\|not provided [RCV001532463]	uncertain significance	22	36284431	36284431	Human	1	alternate_id
150413268	CV1178610	single nucleotide variant	NM_002473.6(MYH9):c.1057G>A (p.Val353Ile)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038259]\|not provided [RCV001547740]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36319591	36319591	Human	1	alternate_id
150423294	CV1185670	single nucleotide variant	NM_002473.6(MYH9):c.5593-4G>A	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501895]\|not provided [RCV001555125]	likely benign	22	36284269	36284269	Human	1	alternate_id
150425286	CV1185671	single nucleotide variant	NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488376]\|not provided [RCV001557807]	conflicting interpretations of pathogenicity\|uncertain significance	22	36294112	36294112	Human	1	alternate_id
150427318	CV1188990	single nucleotide variant	NM_002473.6(MYH9):c.3485+18G>C	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501904]\|not provided [RCV001560765]	benign\|likely benign	22	36295487	36295487	Human	1	alternate_id
150408930	CV1192373	single nucleotide variant	NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501910]\|not provided [RCV001565499]	uncertain significance	22	36293345	36293345	Human	1	alternate_id
150421580	CV1195638	single nucleotide variant	NM_002473.6(MYH9):c.2838+19C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506677]\|not provided [RCV001570604]	benign\|likely benign	22	36300832	36300832	Human	1	alternate_id
150443588	CV1205151	single nucleotide variant	NM_002473.6(MYH9):c.1167C>T (p.Ile389=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501950]\|not provided [RCV001583994]	benign\|likely benign	22	36318267	36318267	Human	1	alternate_id
150479949	CV1207921	single nucleotide variant	NM_002473.6(MYH9):c.2115C>T (p.Arg705=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002477858]\|not provided [RCV001590197]	likely benign	22	36305974	36305974	Human	1	alternate_id
150480936	CV1209694	single nucleotide variant	NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)	MYH9-related disorder [RCV004536228]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003388031]\|not provided [RCV001590391]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36293863	36293863	Human	1	alternate_id
150507231	CV1211124	single nucleotide variant	NM_002473.6(MYH9):c.2913G>A (p.Ala971=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506702]\|not provided [RCV001596242]	benign\|likely benign	22	36300190	36300190	Human	1	alternate_id
150508277	CV1244792	single nucleotide variant	NM_002473.6(MYH9):c.2618C>T (p.Thr873Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005023213]\|not provided [RCV001659041]	conflicting interpretations of pathogenicity\|uncertain significance	22	36301547	36301547	Human	1	alternate_id
150547187	CV1291921	single nucleotide variant	NM_002473.6(MYH9):c.1306G>A (p.Ala436Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001733590]	uncertain significance	22	36316591	36316591	Human	1	alternate_id
150551097	CV1292495	single nucleotide variant	NM_002473.6(MYH9):c.278A>G (p.Asn93Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503185]\|not provided [RCV001754102]	uncertain significance	22	36348959	36348959	Human	1	alternate_id
150530712	CV1293473	single nucleotide variant	NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val)	Autosomal dominant nonsyndromic hearing loss 17 [RCV004584922]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503190]\|not provided [RCV001756694]	pathogenic\|uncertain significance	22	36289290	36289290	Human	3	alternate_id
150549061	CV1294669	single nucleotide variant	NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038291]\|not provided [RCV001752161]	conflicting interpretations of pathogenicity\|uncertain significance	22	36288756	36288756	Human	1	alternate_id
150549646	CV1299574	single nucleotide variant	NM_002473.6(MYH9):c.1849C>T (p.Arg617Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005023236]\|not provided [RCV001752500]	uncertain significance	22	36306602	36306602	Human	1	alternate_id
150551890	CV1300748	single nucleotide variant	NM_002473.6(MYH9):c.158A>C (p.Glu53Ala)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005023231]\|not provided [RCV001754608]	uncertain significance	22	36349079	36349079	Human	1	alternate_id
150552501	CV1301484	single nucleotide variant	NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser)	Inborn genetic diseases [RCV004040215]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488574]\|not provided [RCV001767894]	uncertain significance	22	36304089	36304089	Human	2	alternate_id
150547269	CV1302985	single nucleotide variant	NM_002473.6(MYH9):c.4792C>A (p.Leu1598Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005023238]\|not provided [RCV001763730]	uncertain significance	22	36288392	36288392	Human	1	alternate_id
151347927	CV1322448	single nucleotide variant	NM_002473.6(MYH9):c.5510T>G (p.Val1837Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001804244]\|not provided [RCV005057628]	likely benign\|uncertain significance	22	36284485	36284485	Human	1	alternate_id
151354830	CV1327897	single nucleotide variant	NM_002473.6(MYH9):c.3451A>G (p.Thr1151Ala)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280908]\|not specified [RCV001819372]	uncertain significance	22	36295539	36295539	Human	1	alternate_id
151661888	CV1330092	single nucleotide variant	NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001823503]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002489889]	uncertain significance	22	36294201	36294201	Human	3	alternate_id
151662435	CV1333111	single nucleotide variant	NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr)	Inborn genetic diseases [RCV004041026]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001837344]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503337]\|not provided [RCV0037 ... (more) 72358]	likely benign\|uncertain significance	22	36296922	36296922	Human	2	alternate_id
151760943	CV1343302	single nucleotide variant	NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002479804]\|not provided [RCV002024359]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36298997	36298997	Human	1	alternate_id
151797392	CV1346510	single nucleotide variant	NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484840]\|not provided [RCV001990630]	likely benign\|uncertain significance	22	36304122	36304122	Human	1	alternate_id
151843292	CV1363271	single nucleotide variant	NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002486791]\|not provided [RCV002032080]	uncertain significance	22	36288287	36288287	Human	1	alternate_id
151886212	CV1367319	single nucleotide variant	NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val)	Inborn genetic diseases [RCV005382319]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002497947]\|not provided [RCV002000639]	likely benign\|uncertain significance	22	36288813	36288813	Human	2	alternate_id
151851113	CV1378086	single nucleotide variant	NM_002473.6(MYH9):c.2405G>A (p.Arg802Gln)	MYH9-related disorder [RCV004529089]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005397271]\|not provided [RCV002016598]\|not specified [RCV003331272]	uncertain significance	22	36302662	36302662	Human	1	alternate_id
151830298	CV1405396	single nucleotide variant	NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)	MYH9-related disorder [RCV004538603]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490223]\|not provided [RCV001901743]	likely benign\|uncertain significance	22	36318233	36318233	Human	1	alternate_id
151835012	CV1425722	single nucleotide variant	NM_002473.6(MYH9):c.5431G>A (p.Ala1811Thr)	Inborn genetic diseases [RCV004955992]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025503]\|not provided [RCV002014689]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36285173	36285173	Human	2	alternate_id
151744711	CV1428054	single nucleotide variant	NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503632]\|not provided [RCV001926830]	likely benign\|uncertain significance	22	36295538	36295538	Human	1	alternate_id
151804344	CV1430613	single nucleotide variant	NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503441]\|not provided [RCV001899358]	conflicting interpretations of pathogenicity\|uncertain significance	22	36294252	36294252	Human	1	alternate_id
151832204	CV1459652	single nucleotide variant	NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu)	Inborn genetic diseases [RCV002545350]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002489922]\|not provided [RCV002050831]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36288301	36288301	Human	2	alternate_id
151740025	CV1476288	single nucleotide variant	NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002482510]\|not provided [RCV001911838]	likely benign\|uncertain significance	22	36293824	36293824	Human	1	alternate_id
151810196	CV1476538	single nucleotide variant	NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490002]\|not provided [RCV001899870]	uncertain significance	22	36285290	36285290	Human	1	alternate_id
151730032	CV1506074	single nucleotide variant	NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002482628]\|not provided [RCV001892146]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36285759	36285759	Human	1	alternate_id
152036835	CV1521782	single nucleotide variant	NM_002473.6(MYH9):c.2838+10C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498178]\|not provided [RCV002187644]	likely benign	22	36300841	36300841	Human	1	alternate_id
152159180	CV1529203	single nucleotide variant	NM_002473.6(MYH9):c.4558-11C>G	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500358]\|not provided [RCV002159329]\|not specified [RCV004782900]	likely benign	22	36288950	36288950	Human	1	alternate_id
152076356	CV1565821	single nucleotide variant	NM_002473.6(MYH9):c.4128T>C (p.Ser1376=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498307]\|not provided [RCV002075787]	likely benign	22	36292202	36292202	Human	1	alternate_id
152087342	CV1574054	single nucleotide variant	NM_002473.6(MYH9):c.1518C>T (p.Leu506=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494318]\|not provided [RCV002150115]	likely benign	22	36314181	36314181	Human	1	alternate_id
152082708	CV1589630	single nucleotide variant	NM_002473.6(MYH9):c.2844T>G (p.Leu948=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494234]\|not provided [RCV002112973]	likely benign	22	36300259	36300259	Human	1	alternate_id
152161212	CV1606122	single nucleotide variant	NM_002473.6(MYH9):c.3272+19C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500382]\|not provided [RCV002180966]	likely benign	22	36296824	36296824	Human	1	alternate_id
152111439	CV1634783	single nucleotide variant	NM_002473.6(MYH9):c.1012+20A>G	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002507843]\|not provided [RCV002096905]	benign\|likely benign	22	36320200	36320200	Human	1	alternate_id
152040097	CV1644067	single nucleotide variant	NM_002473.6(MYH9):c.5483+18C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500249]\|not provided [RCV002125962]	likely benign	22	36285103	36285103	Human	1	alternate_id
152148009	CV1653838	single nucleotide variant	NM_002473.6(MYH9):c.868+14C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505824]\|not provided [RCV002139094]	likely benign	22	36320784	36320784	Human	1	alternate_id
152073014	CV1657361	single nucleotide variant	NM_002473.6(MYH9):c.4095+20C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498239]\|not provided [RCV002210230]	benign\|likely benign	22	36293309	36293309	Human	1	alternate_id
152156650	CV1668643	single nucleotide variant	NM_002473.6(MYH9):c.504A>G (p.Gln168=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502032]\|not provided [RCV003093867]\|not specified [RCV002222869]	likely benign	22	36327475	36327475	Human	1	alternate_id
152040504	CV1669733	single nucleotide variant	NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487026]\|not provided [RCV002224634]	uncertain significance	22	36294256	36294256	Human	1	alternate_id
152059118	CV1670887	single nucleotide variant	NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg)	Macrothrombocytopenia [RCV002254216]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002226406]	pathogenic\|likely pathogenic	22	36302585	36302585	Human	3	alternate_id
152980943	CV1676248	single nucleotide variant	NM_002473.6(MYH9):c.3428C>T (p.Ala1143Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245325]	uncertain significance	22	36295562	36295562	Human	1	alternate_id
152980953	CV1676256	single nucleotide variant	NM_002473.6(MYH9):c.284C>T (p.Ala95Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245333]	likely pathogenic	22	36348953	36348953	Human	1	alternate_id
152980963	CV1676263	single nucleotide variant	NM_002473.6(MYH9):c.1124C>T (p.Ser375Phe)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245340]	uncertain significance	22	36318310	36318310	Human	1	alternate_id
152981062	CV1676339	deletion	NM_002473.6(MYH9):c.5773del (p.Asp1925fs)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245416]	pathogenic	22	36282778	36282778	Human	1	alternate_id
152981066	CV1676342	single nucleotide variant	NM_002473.6(MYH9):c.4272C>A (p.Asp1424Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245419]	likely pathogenic	22	36292058	36292058	Human	1	alternate_id
152981068	CV1676344	single nucleotide variant	NM_002473.6(MYH9):c.3486G>T (p.Arg1162Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245421]	likely pathogenic	22	36295076	36295076	Human	1	alternate_id
152981137	CV1676402	single nucleotide variant	NM_002473.6(MYH9):c.651C>A (p.Ile217=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245479]	uncertain significance	22	36322483	36322483	Human	1	alternate_id
152981148	CV1676410	deletion	NM_002473.6(MYH9):c.3196_3207del (p.Glu1066_Ala1069del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245487]	uncertain significance	22	36296908	36296919	Human	1	alternate_id
152981647	CV1676958	single nucleotide variant	NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp)	MYH9-related disorder [RCV004529108]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488627]\|not provided [RCV005095809]\|not specified [RCV002248025]	uncertain significance	22	36285681	36285681	Human	1	alternate_id
152982464	CV1677398	single nucleotide variant	NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002249107]	likely pathogenic	22	36305960	36305960	Human	1	alternate_id
153000500	CV1683722	single nucleotide variant	NM_002473.6(MYH9):c.2707C>T (p.Arg903Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002254229]	uncertain significance	22	36300982	36300982	Human	1	alternate_id
153000503	CV1683724	single nucleotide variant	NM_002473.6(MYH9):c.4250G>A (p.Arg1417Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002254231]\|not provided [RCV003094168]	likely pathogenic\|uncertain significance	22	36292080	36292080	Human	1	alternate_id
153000504	CV1683725	single nucleotide variant	NM_002473.6(MYH9):c.5680C>A (p.Arg1894=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002254232]	uncertain significance	22	36284178	36284178	Human	1	alternate_id
153000697	CV1684260	single nucleotide variant	NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496189]\|not provided [RCV002255222]	conflicting interpretations of pathogenicity\|uncertain significance	22	36288744	36288744	Human	1	alternate_id
153000707	CV1684272	single nucleotide variant	NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488637]\|not provided [RCV002255227]	conflicting interpretations of pathogenicity\|uncertain significance	22	36296934	36296934	Human	1	alternate_id
153301341	CV1686011	deletion	NM_002473.6(MYH9):c.167_169del (p.Val56del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002261475]	likely pathogenic	22	36349068	36349070	Human	1	alternate_id
153301432	CV1687803	single nucleotide variant	NM_002473.6(MYH9):c.2153G>A (p.Arg718Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002264878]\|not provided [RCV003708630]	likely benign	22	36305936	36305936	Human	1	alternate_id
153305551	CV1688622	single nucleotide variant	NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002266358]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025747]	likely pathogenic	22	36289096	36289096	Human	1	alternate_id
153301824	CV1689332	single nucleotide variant	NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)	Inborn genetic diseases [RCV004641951]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496207]\|not provided [RCV002267282]	conflicting interpretations of pathogenicity\|uncertain significance	22	36300976	36300976	Human	2	alternate_id
153346785	CV1691149	single nucleotide variant	NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002272630]	pathogenic	20	59024051	59024051	Human	1	alternate_id
153346357	CV1691675	single nucleotide variant	NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002273158]\|not provided [RCV005058211]	benign\|uncertain significance	22	36282763	36282763	Human	1	alternate_id
155266011	CV1696161	single nucleotide variant	NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280935]	likely pathogenic	22	36300982	36300982	Human	1	alternate_id
155266012	CV1696162	single nucleotide variant	NM_002473.6(MYH9):c.4489C>T (p.Arg1497Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280936]\|not specified [RCV002509825]	uncertain significance	22	36289153	36289153	Human	1	alternate_id
155266013	CV1696163	single nucleotide variant	NM_002473.6(MYH9):c.4249C>T (p.Arg1417Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280937]\|not provided [RCV005096019]	likely pathogenic\|uncertain significance	22	36292081	36292081	Human	1	alternate_id
155266015	CV1696164	single nucleotide variant	NM_002473.6(MYH9):c.5765+2T>C	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280938]	pathogenic	22	36284091	36284091	Human	1	alternate_id
155266017	CV1696165	single nucleotide variant	NM_002473.6(MYH9):c.4712G>A (p.Arg1571Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280939]	likely pathogenic	22	36288785	36288785	Human	1	alternate_id
155266018	CV1696166	single nucleotide variant	NM_002473.6(MYH9):c.277A>G (p.Asn93Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280940]\|not specified [RCV004690281]	pathogenic\|uncertain significance	22	36348960	36348960	Human	1	alternate_id
155268401	CV1705354	single nucleotide variant	NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032225]\|not provided [RCV002285959]	conflicting interpretations of pathogenicity\|uncertain significance	22	36289236	36289236	Human	1	alternate_id
155642538	CV1707464	single nucleotide variant	NM_002473.6(MYH9):c.4024C>G (p.Arg1342Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002288394]	uncertain significance	22	36293400	36293400	Human	1	alternate_id
155643637	CV1707988	single nucleotide variant	NM_002473.6(MYH9):c.5629C>T (p.Arg1877Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002289449]\|not provided [RCV003097782]	uncertain significance	22	36284229	36284229	Human	1	alternate_id
155713829	CV1760303	single nucleotide variant	NM_002473.6(MYH9):c.626G>A (p.Arg209Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025773]\|not provided [RCV002300809]	conflicting interpretations of pathogenicity\|uncertain significance	22	36322508	36322508	Human	1	alternate_id
9691966	CV176250	single nucleotide variant	NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)	Inborn genetic diseases [RCV005372242]\|MYH9-related disorder [RCV004732706]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002281965]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ... (more) [RCV002478428]\|not provided [RCV003231344]\|not specified [RCV000151318]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36282745	36282745	Human	2	alternate_id
9690283	CV176253	single nucleotide variant	NM_002473.6(MYH9):c.5235G>A (p.Thr1745=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498760]\|not provided [RCV002515006]\|not specified [RCV000155957]	likely benign	22	36285697	36285697	Human	1	alternate_id
9693554	CV176257	single nucleotide variant	NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000322530]\|MYH9-related disorder [RCV000379501]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505171]\|not provided [RCV001576868]\|not specified [RCV000155176]	benign\|likely benign	22	36286769	36286769	Human	3	alternate_id
9691970	CV176262	single nucleotide variant	NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478429]\|Rare genetic deafness [RCV000151326]\|not provided [RCV001850061]	pathogenic\|likely pathogenic	22	36289096	36289096	Human	3	alternate_id
9691971	CV176263	single nucleotide variant	NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005031659]\|not provided [RCV002516038]\|not specified [RCV000151328]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36289194	36289194	Human	1	alternate_id
9690489	CV176266	single nucleotide variant	NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu)	Inborn genetic diseases [RCV004019874]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478463]\|not provided [RCV001850149]\|not specified [RCV000156169]	likely benign\|uncertain significance	22	36292151	36292151	Human	2	alternate_id
9687916	CV176268	single nucleotide variant	NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000268989]\|MYH9-related disorder [RCV000363597]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990431]\|not provided [RCV000767070]\|not specified [RCV000151335]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36295650	36295650	Human	3	alternate_id
9690363	CV176270	single nucleotide variant	NM_002473.6(MYH9):c.2789G>A (p.Arg930His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001281687]\|not provided [RCV005089758]\|not specified [RCV000156038]	likely benign\|uncertain significance	22	36300900	36300900	Human	1	alternate_id
9687921	CV176273	single nucleotide variant	NM_002473.6(MYH9):c.2500-14A>G	Autosomal dominant nonsyndromic hearing loss 17 [RCV000261254]\|MYH9-related disorder [RCV000332858]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498704]\|not provided [RCV002055989]\|not specified [RCV000151343]	benign\|likely benign\|uncertain significance	22	36301679	36301679	Human	3	alternate_id
9690323	CV176275	single nucleotide variant	NM_002473.6(MYH9):c.2037+14G>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484943]\|not provided [RCV002515007]\|not specified [RCV000155997]	likely benign	22	36306400	36306400	Human	1	alternate_id
9691978	CV176276	single nucleotide variant	NM_002473.6(MYH9):c.1843+14C>A	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498705]\|not provided [RCV002055990]\|not specified [RCV000151347]	benign\|likely benign	22	36309268	36309268	Human	1	alternate_id
9687926	CV176279	single nucleotide variant	NM_002473.6(MYH9):c.1212G>A (p.Ala404=)	MYH9-related disorder [RCV004532680]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483310]\|not provided [RCV002516040]\|not specified [RCV000151350]	likely benign	22	36318222	36318222	Human	1	alternate_id
9690535	CV176280	single nucleotide variant	NM_002473.6(MYH9):c.1056C>T (p.Ile352=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498764]\|not provided [RCV000919506]\|not specified [RCV000156216]	likely benign	22	36319592	36319592	Human	1	alternate_id
9690540	CV176281	single nucleotide variant	NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484947]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003444207]\|not specified [RCV000156222]	uncertain significance	22	36320833	36320833	Human	1	alternate_id
9689590	CV176286	single nucleotide variant	NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000369754]\|MYH9-related disorder [RCV000298717]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002243827]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or se ... (more) nsorineural hearing loss [RCV002478456]\|not provided [RCV000960214]\|not specified [RCV000155187]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36349230	36349230	Human	3	alternate_id
9691968	CV176374	single nucleotide variant	NM_002473.6(MYH9):c.5593-14G>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498702]\|not provided [RCV002055988]\|not specified [RCV000151320]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	36284279	36284279	Human	1	alternate_id
9690727	CV176375	deletion	NM_002473.6(MYH9):c.5275-10del	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505178]\|not provided [RCV001582633]\|not specified [RCV000156416]	benign\|likely benign	22	36285339	36285339	Human	1	alternate_id
9693553	CV176378	single nucleotide variant	NM_002473.6(MYH9):c.5049C>A (p.Ile1683=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478455]\|not provided [RCV001562410]\|not specified [RCV000155175]	benign\|likely benign	22	36286730	36286730	Human	1	alternate_id
9690262	CV176381	single nucleotide variant	NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met)	Inborn genetic diseases [RCV004019868]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484941]\|not specified [RCV000155935]	uncertain significance	22	36288257	36288257	Human	2	alternate_id
9687910	CV176384	single nucleotide variant	NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)	Inborn genetic diseases [RCV004955292]\|MYH9-related disorder [RCV004532678]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483309]\|not provided [RCV000727282]\|not specified [RCV000151325]	likely benign\|uncertain significance	22	36289086	36289086	Human	2	alternate_id
9687911	CV176385	single nucleotide variant	NM_002473.6(MYH9):c.4479G>A (p.Ala1493=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498703]\|not provided [RCV000894271]\|not specified [RCV000151327]	likely benign	22	36289163	36289163	Human	1	alternate_id
9687913	CV176387	single nucleotide variant	NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505154]\|not provided [RCV002514913]\|not specified [RCV000151331]	likely benign\|uncertain significance	22	36292024	36292024	Human	1	alternate_id
9689584	CV176389	single nucleotide variant	NM_002473.6(MYH9):c.3943-7C>A	MYH9-related disorder [RCV004534986]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025237]\|not provided [RCV001731400]\|not specified [RCV000155181]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36293488	36293488	Human	1	alternate_id
9690197	CV176390	single nucleotide variant	NM_002473.6(MYH9):c.3384T>C (p.Asn1128=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498759]\|not provided [RCV002515003]\|not specified [RCV000155868]	benign\|likely benign	22	36295606	36295606	Human	1	alternate_id
9687918	CV176392	single nucleotide variant	NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000387348]\|MYH9-related disorder [RCV000293055]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002243824]\|not provided [RCV000726812]\|not specified [RCV000151338]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36300231	36300231	Human	3	alternate_id
9691976	CV176394	single nucleotide variant	NM_002473.6(MYH9):c.2714G>A (p.Arg905His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000765635]\|not provided [RCV002516039]\|not specified [RCV000151340]	likely benign\|uncertain significance	22	36300975	36300975	Human	1	alternate_id
9687923	CV176397	single nucleotide variant	NM_002473.6(MYH9):c.2229+13G>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478430]\|not provided [RCV001560621]\|not specified [RCV000151346]	benign\|likely benign	22	36305020	36305020	Human	1	alternate_id
9691127	CV176399	single nucleotide variant	NM_002473.6(MYH9):c.1843+12G>C	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002492604]\|not provided [RCV002516349]\|not specified [RCV000156835]	likely benign	22	36309270	36309270	Human	1	alternate_id
9689588	CV176404	single nucleotide variant	NM_002473.6(MYH9):c.769+15C>T	Autosomal dominant nonsyndromic hearing loss 17 [RCV000393035]\|MYH9-related disorder [RCV000308090]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498750]\|not provided [RCV002056077]\|not specified [RCV000155185]	benign\|likely benign	22	36321743	36321743	Human	3	alternate_id
9689589	CV176408	single nucleotide variant	NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000339441]\|MYH9-related disorder [RCV000286819]\|Vitelliform macular dystrophy 1 [RCV000509473]\|not provided [RCV000972196]\|not specified [RCV000155186]	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided	22	36349101	36349101	Human	4	alternate_id
155803247	CV1858014	single nucleotide variant	NM_002473.6(MYH9):c.3853G>A (p.Val1285Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025831]\|not provided [RCV002461864]	uncertain significance	22	36293848	36293848	Human	1	alternate_id
155796537	CV1859093	single nucleotide variant	NM_002473.6(MYH9):c.796C>T (p.Arg266Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025832]\|not provided [RCV002464721]	uncertain significance	22	36320870	36320870	Human	1	alternate_id
155798232	CV1861912	single nucleotide variant	NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln)	Inborn genetic diseases [RCV004958554]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471315]\|not provided [RCV002571449]	likely benign\|uncertain significance	22	36300183	36300183	Human	2	alternate_id
155798396	CV1861982	single nucleotide variant	NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471385]\|not provided [RCV002571453]	likely benign\|uncertain significance	22	36300138	36300138	Human	1	alternate_id
155799136	CV1862356	single nucleotide variant	NM_002473.6(MYH9):c.4258C>G (p.Gln1420Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471762]\|not provided [RCV005098454]	benign\|uncertain significance	22	36292072	36292072	Human	1	alternate_id
155800246	CV1862861	single nucleotide variant	NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val)	MYH9-related disorder [RCV004733509]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002472268]	uncertain significance	22	36284201	36284201	Human	1	alternate_id
155960938	CV1884753	single nucleotide variant	NM_002473.6(MYH9):c.3485+3G>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005028187]\|not provided [RCV003074681]	uncertain significance	22	36295502	36295502	Human	1	alternate_id
156133101	CV1914288	single nucleotide variant	NM_002473.6(MYH9):c.1850G>A (p.Arg617His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005028268]\|not provided [RCV002623383]	uncertain significance	22	36306601	36306601	Human	1	alternate_id
156366838	CV1915562	single nucleotide variant	NM_002473.6(MYH9):c.5360A>G (p.Asn1787Ser)	Inborn genetic diseases [RCV004070617]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005028281]\|not provided [RCV002633078]	uncertain significance	22	36285244	36285244	Human	2	alternate_id
156065146	CV1925875	single nucleotide variant	NM_002473.6(MYH9):c.5075C>T (p.Ala1692Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005028283]\|not provided [RCV002621076]	likely benign\|uncertain significance	22	36285940	36285940	Human	1	alternate_id
156130884	CV1933869	single nucleotide variant	NM_002473.6(MYH9):c.2267T>C (p.Ile756Thr)	Inborn genetic diseases [RCV002640707]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005028302]\|not provided [RCV002625227]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36304118	36304118	Human	2	alternate_id
156292187	CV1958565	single nucleotide variant	NM_002473.6(MYH9):c.1786A>G (p.Ile596Val)	Inborn genetic diseases [RCV004064520]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032323]\|not provided [RCV002577876]	uncertain significance	22	36309339	36309339	Human	2	alternate_id
156275679	CV1971136	single nucleotide variant	NM_002473.6(MYH9):c.2078G>A (p.Arg693His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025888]\|not provided [RCV002598233]	uncertain significance	22	36306011	36306011	Human	1	alternate_id
156411513	CV1976346	single nucleotide variant	NM_002473.6(MYH9):c.4964A>G (p.Asp1655Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025873]\|not provided [RCV002587516]	uncertain significance	22	36286815	36286815	Human	1	alternate_id
156211018	CV1983373	single nucleotide variant	NM_002473.6(MYH9):c.5080C>T (p.Arg1694Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025903]\|not provided [RCV002626078]	uncertain significance	22	36285935	36285935	Human	1	alternate_id
156101990	CV1991966	single nucleotide variant	NM_002473.6(MYH9):c.2037+4C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003988882]\|not provided [RCV002622250]	uncertain significance	22	36306410	36306410	Human	1	alternate_id
156134719	CV1998806	single nucleotide variant	NM_002473.6(MYH9):c.3868A>G (p.Ser1290Gly)	Inborn genetic diseases [RCV004066792]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003340532]\|not provided [RCV002663349]	uncertain significance	22	36293833	36293833	Human	2	alternate_id
10407940	CV201017	single nucleotide variant	NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val)	MYH9-related disorder [RCV000790360]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000192270]	pathogenic\|likely pathogenic\|not provided	22	36291990	36291990	Human	1	alternate_id
156362110	CV2016748	single nucleotide variant	NM_002473.6(MYH9):c.5248G>A (p.Asp1750Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005027922]\|not provided [RCV002720935]	uncertain significance	22	36285684	36285684	Human	1	alternate_id
156206918	CV2021512	single nucleotide variant	NM_002473.6(MYH9):c.5329G>A (p.Glu1777Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003989783]\|not provided [RCV002711610]	uncertain significance	22	36285275	36285275	Human	1	alternate_id
156308580	CV2153996	single nucleotide variant	NM_002473.6(MYH9):c.1482C>T (p.Arg494=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005034581]\|not provided [RCV003028449]	likely benign\|uncertain significance	22	36314217	36314217	Human	1	alternate_id
155947640	CV2245739	single nucleotide variant	NM_002473.6(MYH9):c.4948T>C (p.Cys1650Arg)	Inborn genetic diseases [RCV002752688]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005028359]	uncertain significance	22	36286831	36286831	Human	2	alternate_id
156134739	CV2260200	single nucleotide variant	NM_002473.6(MYH9):c.5361C>A (p.Asn1787Lys)	Inborn genetic diseases [RCV002825810]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036556]\|not provided [RCV003720676]	likely benign\|uncertain significance	22	36285243	36285243	Human	2	alternate_id
156047939	CV2271687	single nucleotide variant	NM_002473.6(MYH9):c.5000A>G (p.Gln1667Arg)	Inborn genetic diseases [RCV002822145]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036557]	uncertain significance	22	36286779	36286779	Human	2	alternate_id
11089304	CV231148	single nucleotide variant	NM_002473.6(MYH9):c.4344+10C>T	Autosomal dominant nonsyndromic hearing loss 17 [RCV000356052]\|MYH9-related disorder [RCV000261215]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503844]\|not provided [RCV000881831]\|not specified [RCV000214641]	benign\|likely benign	22	36291976	36291976	Human	3	alternate_id
11095918	CV231151	single nucleotide variant	NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503857]\|not provided [RCV001770164]\|not specified [RCV000222927]	conflicting interpretations of pathogenicity\|uncertain significance	22	36293374	36293374	Human	1	alternate_id
11092048	CV231156	single nucleotide variant	NM_002473.6(MYH9):c.3255C>T (p.Leu1085=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500697]\|not provided [RCV000895184]\|not specified [RCV000218062]	likely benign	22	36296860	36296860	Human	1	alternate_id
11095609	CV231160	single nucleotide variant	NM_002473.6(MYH9):c.2159+6C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002485394]\|not provided [RCV002517569]\|not specified [RCV000222539]	uncertain significance	22	36305924	36305924	Human	1	alternate_id
11091243	CV231166	single nucleotide variant	NM_002473.6(MYH9):c.928A>G (p.Ile310Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494570]\|not provided [RCV002273992]\|not specified [RCV000217070]	conflicting interpretations of pathogenicity\|uncertain significance	22	36320304	36320304	Human	1	alternate_id
11095754	CV231167	single nucleotide variant	NM_002473.6(MYH9):c.888G>A (p.Pro296=)	MYH9-related disorder [RCV004530304]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503845]\|not provided [RCV000891855]\|not specified [RCV000222726]	likely benign	22	36320344	36320344	Human	1	alternate_id
11092381	CV231168	single nucleotide variant	NM_002473.6(MYH9):c.705+14C>T	Autosomal dominant nonsyndromic hearing loss 17 [RCV000405481]\|MYH9-related disorder [RCV000360582]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494559]\|not provided [RCV002057118]\|not specified [RCV000218466]	benign\|likely benign	22	36322415	36322415	Human	3	alternate_id
156434908	CV2403186	single nucleotide variant	NM_002473.6(MYH9):c.2323C>T (p.Arg775Ter)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029909]\|not provided [RCV003127142]	uncertain significance	22	36304062	36304062	Human	1	alternate_id
243052164	CV2417764	single nucleotide variant	NM_002473.6(MYH9):c.3193G>T (p.Ala1065Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003152828]	uncertain significance	22	36296922	36296922	Human	1	alternate_id
243052444	CV2417901	single nucleotide variant	NM_002473.6(MYH9):c.2440C>T (p.Arg814Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003152966]	uncertain significance	22	36302627	36302627	Human	1	alternate_id
243052471	CV2417914	single nucleotide variant	NM_002473.6(MYH9):c.2548A>G (p.Lys850Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003152979]	uncertain significance	22	36301617	36301617	Human	1	alternate_id
329848868	CV2523618	single nucleotide variant	NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003225632]\|not provided [RCV004790509]	likely pathogenic\|conflicting interpretations of pathogenicity	22	36301009	36301009	Human	1	alternate_id
11546784	CV257631	single nucleotide variant	NM_002473.6(MYH9):c.3837+25C>T	Autosomal dominant nonsyndromic hearing loss 17 [RCV001778859]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778860]\|not provided [RCV001610627]\|not specified [RCV000246911]	benign	22	36294067	36294067	Human	3	alternate_id
11550384	CV257640	single nucleotide variant	NM_002473.6(MYH9):c.2808G>A (p.Ala936=)	Kidney disorder [RCV002294133]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503938]\|not provided [RCV002518620]\|not specified [RCV000251687]	benign\|likely benign	22	36300881	36300881	Human	5	alternate_id
11550061	CV257646	deletion	NM_002473.6(MYH9):c.1728+37_1728+44del	Autosomal dominant nonsyndromic hearing loss 17 [RCV001778857]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778858]\|not provided [RCV000842923]\|not specified [RCV000251245]	benign	22	36312005	36312012	Human	3	alternate_id
11544454	CV257648	single nucleotide variant	NM_002473.6(MYH9):c.1228-16C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487126]\|not provided [RCV002058118]\|not specified [RCV000243824]	benign\|likely benign	22	36316685	36316685	Human	1	alternate_id
11543665	CV257651	single nucleotide variant	NM_002473.6(MYH9):c.1108+19C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500895]\|not provided [RCV001683033]\|not specified [RCV000242762]	benign\|likely benign	22	36319521	36319521	Human	1	alternate_id
11543718	CV257654	single nucleotide variant	NM_002473.6(MYH9):c.720C>T (p.Arg240=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500897]\|not provided [RCV000827578]\|not specified [RCV000242833]	benign\|likely benign	22	36321807	36321807	Human	1	alternate_id
11550079	CV257655	single nucleotide variant	NM_002473.6(MYH9):c.705+15G>A	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494739]\|not provided [RCV002518621]\|not specified [RCV000251266]	likely benign	22	36322414	36322414	Human	1	alternate_id
11551462	CV257661	single nucleotide variant	NM_002473.6(MYH9):c.165C>T (p.Ile55=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500896]\|not provided [RCV000712366]\|not specified [RCV000253083]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	36349072	36349072	Human	1	alternate_id
11640110	CV270032	single nucleotide variant	NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003447522]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005031861]\|not provided [RCV000332817]	conflicting interpretations of pathogenicity\|uncertain significance	22	36292180	36292180	Human	1	alternate_id
401778170	CV2700656	single nucleotide variant	NM_002473.6(MYH9):c.2062G>A (p.Val688Met)	Inborn genetic diseases [RCV003286972]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029962]	uncertain significance	22	36306027	36306027	Human	2	alternate_id
401726340	CV2736111	single nucleotide variant	NM_002473.6(MYH9):c.153C>T (p.Gly51=)	MYH9-related disorder [RCV004540641]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029974]\|not provided [RCV003312557]	benign\|likely benign\|uncertain significance	22	36349084	36349084	Human	1	alternate_id
401733237	CV2736823	indel	NM_002473.6(MYH9):c.5174_5175delinsAA (p.Arg1725Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036733]\|not provided [RCV003313585]	uncertain significance	22	36285757	36285758	Human		alternate_id
401722525	CV2737039	single nucleotide variant	NM_002473.6(MYH9):c.4691C>T (p.Ala1564Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003313831]	uncertain significance	22	36288806	36288806	Human	1	alternate_id
401875835	CV2750110	single nucleotide variant	NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys)	Autosomal dominant nonsyndromic hearing loss 17 [RCV003333541]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003333542]	uncertain significance	22	36288933	36288933	Human	3	alternate_id
401857216	CV2752141	deletion	NM_002473.6(MYH9):c.2161_2165del	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003336018]	uncertain significance	22	36305097	36305101	Human	1	alternate_id
401887316	CV2773320	single nucleotide variant	NM_002473.6(MYH9):c.4415G>A (p.Arg1472Gln)	Inborn genetic diseases [RCV003367118]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036763]	uncertain significance	22	36289227	36289227	Human	2	alternate_id
401918563	CV2794579	microsatellite	NM_002473.6(MYH9):c.3244GAG[2] (p.Glu1084del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003388257]	likely pathogenic	22	36296863	36296865	Human		alternate_id
401918868	CV2798077	indel	NM_002473.6(MYH9):c.2398_2400delinsTTT (p.Ala800Phe)	MYH9-related disorder [RCV004527829]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036770]\|not provided [RCV003778220]	uncertain significance	22	36302667	36302669	Human		alternate_id
401936547	CV2798705	single nucleotide variant	NM_002473.6(MYH9):c.4711C>T (p.Arg1571Trp)	MYH9-related disorder [RCV004528591]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036780]	uncertain significance	22	36288786	36288786	Human	1	alternate_id
401948195	CV2832233	microsatellite	NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003447758]\|not provided [RCV003669422]	likely pathogenic\|uncertain significance	22	36289283	36289285	Human		alternate_id
401948330	CV2832487	single nucleotide variant	NM_002473.6(MYH9):c.5745C>G (p.Ser1915Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003447893]	uncertain significance	22	36284113	36284113	Human	1	alternate_id
401964179	CV2844978	single nucleotide variant	NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003484542]	likely pathogenic	22	36318250	36318250	Human	1	alternate_id
402476468	CV2850538	single nucleotide variant	NM_002473.6(MYH9):c.3262G>A (p.Ala1088Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030062]\|not provided [RCV003488094]	conflicting interpretations of pathogenicity\|uncertain significance	22	36296853	36296853	Human	1	alternate_id
404986672	CV2852537	single nucleotide variant	NM_002473.6(MYH9):c.4745A>G (p.Glu1582Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036838]\|not specified [RCV003489751]	uncertain significance	22	36288752	36288752	Human	1	alternate_id
402479365	CV2853307	single nucleotide variant	NM_002473.6(MYH9):c.4009G>C (p.Glu1337Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003494502]	uncertain significance	22	36293415	36293415	Human	1	alternate_id
405215140	CV2875905	single nucleotide variant	NM_002473.6(MYH9):c.5765+4A>G	MYH9-related disorder [RCV004536839]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036853]\|not provided [RCV003553042]	likely benign\|uncertain significance	22	36284089	36284089	Human	1	alternate_id
8564037	CV29111	single nucleotide variant	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	Abnormal bleeding [RCV001270545]\|MYH9-related disorder [RCV000790363]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015116]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV0 ... (more) 05031439]\|not provided [RCV001092002]	pathogenic	22	36282754	36282754	Human	4	alternate_id
8564038	CV29112	single nucleotide variant	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	Autosomal dominant nonsyndromic hearing loss 17 [RCV002466403]\|Deafness [RCV004798729]\|MYH9-related disorder [RCV000790361]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015119]\|not provided [RCV001310800]	pathogenic\|likely pathogenic	22	36284474	36284474	Human	5	alternate_id
8564039	CV29113	single nucleotide variant	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	Abnormal bleeding [RCV001270614]\|Autosomal dominant nonsyndromic hearing loss 17 [RCV001542710]\|Inborn genetic diseases [RCV005384641]\|MYH9-related disorder [RCV000790357]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015121]\|Macrothr ... (more) ombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025055]\|not provided [RCV001092004]	pathogenic	22	36295069	36295069	Human	8	alternate_id
8564040	CV29114	single nucleotide variant	NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)	MYH9-related disorder [RCV000790350]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015122]	pathogenic	22	36348958	36348958	Human	1	alternate_id
8564041	CV29115	single nucleotide variant	NM_002473.6(MYH9):c.4270G>C (p.Asp1424His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032223]	pathogenic	22	36292060	36292060	Human	1	alternate_id
8564042	CV29116	single nucleotide variant	NM_002473.6(MYH9):c.3464C>T (p.Thr1155Ile)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015124]\|not provided [RCV002513057]	pathogenic	22	36295526	36295526	Human	1	alternate_id
8564043	CV29117	single nucleotide variant	NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	Autosomal dominant nonsyndromic hearing loss 17 [RCV003147289]\|MYH9-related disorder [RCV000790354]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015129]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or se ... (more) nsorineural hearing loss [RCV002490369]\|not provided [RCV000523446]	pathogenic	22	36305985	36305985	Human	3	alternate_id
8564044	CV29118	single nucleotide variant	NM_002473.6(MYH9):c.2114G>A (p.Arg705His)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000015130]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032218]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV00503144 ... (more) 0]\|not provided [RCV001659697]	pathogenic\|likely pathogenic	22	36305975	36305975	Human	3	alternate_id
8564045	CV29119	deletion	NM_002473.6(MYH9):c.5821del (p.Asp1941fs)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015131]	pathogenic	22	36282730	36282730	Human	1	alternate_id
8564046	CV29120	single nucleotide variant	NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	MYH9-related disorder [RCV000851738]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015132]\|not provided [RCV001851865]	pathogenic\|likely pathogenic	22	36305984	36305984	Human	1	alternate_id
8564047	CV29121	single nucleotide variant	NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	Autosomal dominant nonsyndromic hearing loss 17 [RCV002466404]\|MYH9-related disorder [RCV000790358]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015134]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or se ... (more) nsorineural hearing loss [RCV002496364]\|Thrombocytopenia [RCV001271110]\|not provided [RCV002513058]	pathogenic\|likely pathogenic	22	36292060	36292060	Human	5	alternate_id
8564048	CV29122	single nucleotide variant	NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000477821]\|MYH9-related disorder [RCV000790352]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015138]\|not provided [RCV001537286]	pathogenic\|likely pathogenic	22	36348950	36348950	Human	3	alternate_id
8564049	CV29123	deletion	NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015139]	pathogenic	22	36296900	36296920	Human	1	alternate_id
8564050	CV29124	duplication	NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015141]\|not provided [RCV005229795]	pathogenic	22	36296899	36296900	Human	1	alternate_id
8564051	CV29125	deletion	NM_002473.6(MYH9):c.228_245del (p.Asn76_Ser81del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015142]	pathogenic	22	36348992	36349009	Human	1	alternate_id
402464903	CV2916493	single nucleotide variant	NM_002473.6(MYH9):c.1844T>C (p.Val615Ala)	Inborn genetic diseases [RCV004369405]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036901]\|not provided [RCV003569119]	uncertain significance	22	36306607	36306607	Human	2	alternate_id
405066162	CV2936608	single nucleotide variant	NM_002473.6(MYH9):c.1136G>A (p.Gly379Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030140]\|not provided [RCV003659110]	uncertain significance	22	36318298	36318298	Human	1	alternate_id
405224349	CV2979259	single nucleotide variant	NM_002473.6(MYH9):c.3110G>T (p.Arg1037Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030178]\|not provided [RCV003681169]	likely benign\|uncertain significance	22	36297005	36297005	Human	1	alternate_id
405044302	CV3074326	single nucleotide variant	NM_002473.6(MYH9):c.4600G>A (p.Val1534Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030255]\|not provided [RCV003740149]	benign\|uncertain significance	22	36288897	36288897	Human	1	alternate_id
405184621	CV3124194	single nucleotide variant	NM_002473.6(MYH9):c.3787G>A (p.Glu1263Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030286]\|not provided [RCV003820392]	benign\|uncertain significance	22	36294142	36294142	Human	1	alternate_id
405195096	CV3128649	single nucleotide variant	NM_002473.6(MYH9):c.1991C>T (p.Thr664Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038543]\|not provided [RCV003821387]	uncertain significance	22	36306460	36306460	Human	1	alternate_id
405197985	CV3132039	single nucleotide variant	NM_002473.6(MYH9):c.4616C>T (p.Thr1539Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030297]\|not provided [RCV003821632]	benign\|uncertain significance	22	36288881	36288881	Human	1	alternate_id
405127597	CV3132906	single nucleotide variant	NM_002473.6(MYH9):c.2441G>A (p.Arg814Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038553]\|not provided [RCV003838069]	uncertain significance	22	36302626	36302626	Human	1	alternate_id
405043456	CV3137359	single nucleotide variant	NM_002473.6(MYH9):c.3755C>T (p.Ala1252Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030305]\|not provided [RCV003831588]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36294174	36294174	Human	1	alternate_id
402478969	CV3170262	single nucleotide variant	NM_002473.6(MYH9):c.4682A>G (p.Asn1561Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038604]\|not provided [RCV003875650]	uncertain significance	22	36288815	36288815	Human	1	alternate_id
402466007	CV3177310	single nucleotide variant	NM_002473.6(MYH9):c.4932+12C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005030345]\|not provided [RCV003872941]	likely benign\|uncertain significance	22	36288240	36288240	Human	1	alternate_id
405291130	CV3222089	single nucleotide variant	NM_002473.6(MYH9):c.300C>A (p.Asn100Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003984908]	uncertain significance	22	36348937	36348937	Human	1	alternate_id
405708141	CV3225469	single nucleotide variant	NM_002473.6(MYH9):c.2206G>A (p.Gly736Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003990525]	uncertain significance	22	36305056	36305056	Human	1	alternate_id
405745173	CV3226238	single nucleotide variant	NM_002473.6(MYH9):c.364A>G (p.Asn122Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003991229]	likely pathogenic	22	36341496	36341496	Human	1	alternate_id
405718138	CV3227699	single nucleotide variant	NM_002473.6(MYH9):c.718C>T (p.Arg240Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992040]	uncertain significance	22	36321809	36321809	Human	1	alternate_id
405718159	CV3227701	single nucleotide variant	NM_002473.6(MYH9):c.4271A>C (p.Asp1424Ala)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992042]	pathogenic	22	36292059	36292059	Human	1	alternate_id
405718698	CV3227750	single nucleotide variant	NM_002473.6(MYH9):c.518+5G>A	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992091]	uncertain significance	22	36327456	36327456	Human	1	alternate_id
405653698	CV3227928	single nucleotide variant	NM_002473.6(MYH9):c.4400C>T (p.Ala1467Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003994670]	uncertain significance	22	36289242	36289242	Human	1	alternate_id
405704597	CV3310687	single nucleotide variant	NM_002473.6(MYH9):c.5795G>A (p.Arg1932His)	Inborn genetic diseases [RCV004447575]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038676]\|not provided [RCV005402136]	uncertain significance	22	36282756	36282756	Human	2	alternate_id
11614206	CV338028	single nucleotide variant	NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000332477]\|MYH9-related disorder [RCV000275008]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502312]\|not provided [RCV000880945]\|not specified [RCV000607530]	benign\|likely benign	22	36282674	36282674	Human	3	alternate_id
11613838	CV338060	single nucleotide variant	NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000271817]\|MYH9-related disorder [RCV000326885]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002480197]\|not provided [RCV002523221]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36294252	36294252	Human	3	alternate_id
405853617	CV3393163	single nucleotide variant	NM_002473.6(MYH9):c.4595A>G (p.Gln1532Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004546884]	uncertain significance	22	36288902	36288902	Human	1	alternate_id
405867345	CV3394315	single nucleotide variant	NM_002473.6(MYH9):c.1271G>T (p.Arg424Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004566432]	uncertain significance	22	36316626	36316626	Human	1	alternate_id
405853658	CV3395093	duplication	NM_002473.6(MYH9):c.2545_2565dup (p.Val855_Lys856insAlaLysGluGluGluLeuVal)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555235]\|not provided [RCV005100821]	uncertain significance	22	36301599	36301600	Human	1	alternate_id
405853681	CV3395116	single nucleotide variant	NM_002473.6(MYH9):c.1543A>C (p.Ile515Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555258]	uncertain significance	22	36314156	36314156	Human	1	alternate_id
405853711	CV3395146	single nucleotide variant	NM_002473.6(MYH9):c.362T>G (p.Ile121Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555288]	uncertain significance	22	36341498	36341498	Human	1	alternate_id
405853853	CV3395263	indel	NM_002473.6(MYH9):c.2151_2152delinsCG (p.Arg718Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555405]	uncertain significance	22	36305937	36305938	Human		alternate_id
405853881	CV3395300	single nucleotide variant	NM_002473.6(MYH9):c.3058A>G (p.Lys1020Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555437]	uncertain significance	22	36298961	36298961	Human	1	alternate_id
407469855	CV3415398	single nucleotide variant	NM_002473.6(MYH9):c.3630G>A (p.Arg1210=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004598357]	uncertain significance	22	36294932	36294932	Human	1	alternate_id
407469914	CV3415425	single nucleotide variant	NM_002473.6(MYH9):c.5596G>T (p.Asp1866Tyr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004598384]	uncertain significance	22	36284262	36284262	Human	1	alternate_id
407513603	CV3416486	single nucleotide variant	NM_002473.6(MYH9):c.264G>T (p.Glu88Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004674047]	uncertain significance	22	36348973	36348973	Human	1	alternate_id
11627627	CV351524	single nucleotide variant	NM_002473.6(MYH9):c.5765+9C>T	Autosomal dominant nonsyndromic hearing loss 17 [RCV000377498]\|MYH9-related disorder [RCV000285458]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502313]\|not provided [RCV002523217]	benign\|likely benign	22	36284084	36284084	Human	3	alternate_id
11631141	CV351526	single nucleotide variant	NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000394413]\|Inborn genetic diseases [RCV002523218]\|MYH9-related disorder [RCV000368697]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000787013]\|not provided [RCV001590995]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36285148	36285148	Human	4	alternate_id
11627538	CV351527	single nucleotide variant	NM_002473.6(MYH9):c.4955G>A (p.Arg1652His)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000378271]\|MYH9-related disorder [RCV000283777]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005027440]\|not provided [RCV002524453]	likely benign\|uncertain significance	22	36286824	36286824	Human	3	alternate_id
11628797	CV351529	single nucleotide variant	NM_002473.6(MYH9):c.4391G>A (p.Arg1464His)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000308851]\|Inborn genetic diseases [RCV004649134]\|MYH9-related disorder [RCV000405444]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005033873]\|not provided [RCV001355046]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36289251	36289251	Human	4	alternate_id
11627426	CV351535	single nucleotide variant	NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000337020]\|MYH9-related disorder [RCV000281921]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005027442]\|not provided [RCV001532465]	conflicting interpretations of pathogenicity\|uncertain significance	22	36294957	36294957	Human	3	alternate_id
408388949	CV3520887	single nucleotide variant	NM_002473.6(MYH9):c.423G>C (p.Lys141Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005023699]\|not provided [RCV004761720]	uncertain significance	22	36341437	36341437	Human	1	alternate_id
11645052	CV352504	single nucleotide variant	NM_002473.6(MYH9):c.4654G>A (p.Glu1552Lys)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000263189]\|MYH9-related disorder [RCV000318391]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004820843]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or se ... (more) nsorineural hearing loss [RCV005027441]	uncertain significance	22	36288843	36288843	Human	3	alternate_id
11627942	CV352508	single nucleotide variant	NM_002473.6(MYH9):c.2295C>T (p.Ala765=)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000344218]\|MYH9-related disorder [RCV000291564]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502314]\|not provided [RCV000842367]\|not specified [RCV000603845]	benign\|likely benign	22	36304090	36304090	Human	3	alternate_id
11628680	CV352512	single nucleotide variant	NM_002473.6(MYH9):c.1188G>A (p.Val396=)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000306419]\|MYH9-related disorder [RCV000363389]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005027443]	benign\|uncertain significance	22	36318246	36318246	Human	3	alternate_id
596921974	CV3535603	single nucleotide variant	NM_002473.6(MYH9):c.1879A>G (p.Met627Val)	Inborn genetic diseases [RCV004953772]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004785158]	uncertain significance	22	36306572	36306572	Human	2	alternate_id
596929071	CV3540770	single nucleotide variant	NM_002473.6(MYH9):c.1099G>A (p.Asp367Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005038840]\|not provided [RCV004795098]	uncertain significance	22	36319549	36319549	Human	1	alternate_id
596925755	CV3542196	single nucleotide variant	NM_002473.6(MYH9):c.2768G>A (p.Arg923Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004795914]	uncertain significance	22	36300921	36300921	Human	1	alternate_id
597622997	CV3552160	single nucleotide variant	NM_002473.6(MYH9):c.59C>G (p.Pro20Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004821018]	uncertain significance	22	36349178	36349178	Human	1	alternate_id
597694510	CV3727094	indel	NM_002473.6(MYH9):c.5854_5855delinsAT (p.Asp1952Ile)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032810]	uncertain significance	22	36282696	36282697	Human		alternate_id
597668133	CV3727095	single nucleotide variant	NM_002473.6(MYH9):c.5854G>T (p.Asp1952Tyr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029315]	uncertain significance	22	36282697	36282697	Human	1	alternate_id
597694520	CV3727096	single nucleotide variant	NM_002473.6(MYH9):c.5611C>T (p.Arg1871Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032811]	uncertain significance	22	36284247	36284247	Human	1	alternate_id
597694534	CV3727097	single nucleotide variant	NM_002473.6(MYH9):c.5603C>T (p.Ala1868Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032812]	uncertain significance	22	36284255	36284255	Human	1	alternate_id
597668141	CV3727098	single nucleotide variant	NM_002473.6(MYH9):c.5484-3C>G	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029316]	uncertain significance	22	36284514	36284514	Human	1	alternate_id
597668158	CV3727099	single nucleotide variant	NM_002473.6(MYH9):c.5437G>C (p.Glu1813Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029318]	uncertain significance	22	36285167	36285167	Human	1	alternate_id
597668165	CV3727100	single nucleotide variant	NM_002473.6(MYH9):c.5436C>A (p.Leu1812=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029319]	uncertain significance	22	36285168	36285168	Human	1	alternate_id
597694555	CV3727101	single nucleotide variant	NM_002473.6(MYH9):c.5338C>G (p.Arg1780Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032814]	uncertain significance	22	36285266	36285266	Human	1	alternate_id
597668175	CV3727102	microsatellite	NM_002473.6(MYH9):c.5322GAA[1] (p.Lys1775del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029320]	uncertain significance	22	36285277	36285279	Human		alternate_id
597668182	CV3727103	single nucleotide variant	NM_002473.6(MYH9):c.5278G>A (p.Asp1760Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029321]	uncertain significance	22	36285326	36285326	Human	1	alternate_id
597668191	CV3727104	single nucleotide variant	NM_002473.6(MYH9):c.5275A>G (p.Ile1759Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029322]	uncertain significance	22	36285329	36285329	Human	1	alternate_id
597694567	CV3727105	single nucleotide variant	NM_002473.6(MYH9):c.5037G>C (p.Glu1679Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032815]	uncertain significance	22	36286742	36286742	Human	1	alternate_id
597668199	CV3727106	single nucleotide variant	NM_002473.6(MYH9):c.4957G>C (p.Glu1653Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029323]\|not provided [RCV005112807]	likely benign\|uncertain significance	22	36286822	36286822	Human	1	alternate_id
597694581	CV3727107	single nucleotide variant	NM_002473.6(MYH9):c.4871C>T (p.Ala1624Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032816]\|not provided [RCV005063259]	benign\|uncertain significance	22	36288313	36288313	Human	1	alternate_id
597668209	CV3727108	single nucleotide variant	NM_002473.6(MYH9):c.4853A>T (p.Asp1618Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029324]	uncertain significance	22	36288331	36288331	Human	1	alternate_id
597668217	CV3727110	single nucleotide variant	NM_002473.6(MYH9):c.4848G>T (p.Glu1616Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029325]	uncertain significance	22	36288336	36288336	Human	1	alternate_id
597694592	CV3727111	single nucleotide variant	NM_002473.6(MYH9):c.4835G>A (p.Arg1612Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032817]	uncertain significance	22	36288349	36288349	Human	1	alternate_id
597694602	CV3727112	single nucleotide variant	NM_002473.6(MYH9):c.4806G>C (p.Arg1602Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032818]	uncertain significance	22	36288378	36288378	Human	1	alternate_id
597668226	CV3727113	single nucleotide variant	NM_002473.6(MYH9):c.4652C>T (p.Thr1551Ile)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029326]	uncertain significance	22	36288845	36288845	Human	1	alternate_id
597668235	CV3727114	single nucleotide variant	NM_002473.6(MYH9):c.4580A>G (p.Lys1527Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029327]\|not provided [RCV005112808]	uncertain significance	22	36288917	36288917	Human	1	alternate_id
597694613	CV3727115	single nucleotide variant	NM_002473.6(MYH9):c.4574A>G (p.Lys1525Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032819]	uncertain significance	22	36288923	36288923	Human	1	alternate_id
597668243	CV3727116	single nucleotide variant	NM_002473.6(MYH9):c.4543G>A (p.Asp1515Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029328]	uncertain significance	22	36289099	36289099	Human	1	alternate_id
597694624	CV3727117	single nucleotide variant	NM_002473.6(MYH9):c.4507C>T (p.Arg1503Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032820]\|not provided [RCV005063260]	likely benign\|uncertain significance	22	36289135	36289135	Human	1	alternate_id
597668252	CV3727118	single nucleotide variant	NM_002473.6(MYH9):c.4480G>A (p.Glu1494Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029329]	uncertain significance	22	36289162	36289162	Human	1	alternate_id
597668269	CV3727119	single nucleotide variant	NM_002473.6(MYH9):c.4439C>G (p.Ser1480Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029331]	uncertain significance	22	36289203	36289203	Human	1	alternate_id
597668278	CV3727120	single nucleotide variant	NM_002473.6(MYH9):c.4344G>A (p.Gln1448=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029332]	uncertain significance	22	36291986	36291986	Human	1	alternate_id
597694637	CV3727121	single nucleotide variant	NM_002473.6(MYH9):c.4267G>T (p.Asp1423Tyr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032821]	uncertain significance	22	36292063	36292063	Human	1	alternate_id
597668285	CV3727123	single nucleotide variant	NM_002473.6(MYH9):c.4132G>T (p.Gly1378Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029333]	uncertain significance	22	36292198	36292198	Human	1	alternate_id
597668294	CV3727124	single nucleotide variant	NM_002473.6(MYH9):c.4119G>A (p.Met1373Ile)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029334]\|not provided [RCV005063261]	benign\|uncertain significance	22	36292211	36292211	Human	1	alternate_id
597694648	CV3727125	single nucleotide variant	NM_002473.6(MYH9):c.4055A>G (p.Lys1352Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032822]\|not provided [RCV005063262]	likely benign\|uncertain significance	22	36293369	36293369	Human	1	alternate_id
597694659	CV3727126	single nucleotide variant	NM_002473.6(MYH9):c.3952C>A (p.Gln1318Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032823]	uncertain significance	22	36293472	36293472	Human	1	alternate_id
597668302	CV3727127	single nucleotide variant	NM_002473.6(MYH9):c.3946C>G (p.Leu1316Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029335]	uncertain significance	22	36293478	36293478	Human	1	alternate_id
597668310	CV3727128	single nucleotide variant	NM_002473.6(MYH9):c.3906C>G (p.Asp1302Glu)	Inborn genetic diseases [RCV005377689]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029336]	uncertain significance	22	36293795	36293795	Human	2	alternate_id
597668318	CV3727129	single nucleotide variant	NM_002473.6(MYH9):c.3887C>A (p.Ser1296Tyr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029337]	uncertain significance	22	36293814	36293814	Human	1	alternate_id
597668326	CV3727131	single nucleotide variant	NM_002473.6(MYH9):c.3880A>G (p.Ser1294Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029338]	uncertain significance	22	36293821	36293821	Human	1	alternate_id
597668337	CV3727132	single nucleotide variant	NM_002473.6(MYH9):c.3821A>G (p.Lys1274Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029339]	uncertain significance	22	36294108	36294108	Human	1	alternate_id
597668345	CV3727133	single nucleotide variant	NM_002473.6(MYH9):c.3803G>A (p.Arg1268His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029340]	uncertain significance	22	36294126	36294126	Human	1	alternate_id
597668354	CV3727134	single nucleotide variant	NM_002473.6(MYH9):c.3799G>A (p.Val1267Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029341]	uncertain significance	22	36294130	36294130	Human	1	alternate_id
597668365	CV3727135	single nucleotide variant	NM_002473.6(MYH9):c.3696G>C (p.Glu1232Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029342]	uncertain significance	22	36294233	36294233	Human	1	alternate_id
597668372	CV3727136	single nucleotide variant	NM_002473.6(MYH9):c.3619C>G (p.Gln1207Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029343]	uncertain significance	22	36294943	36294943	Human	1	alternate_id
597668382	CV3727137	single nucleotide variant	NM_002473.6(MYH9):c.3586C>G (p.Gln1196Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029344]	uncertain significance	22	36294976	36294976	Human	1	alternate_id
597668392	CV3727138	single nucleotide variant	NM_002473.6(MYH9):c.3586C>A (p.Gln1196Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029345]	uncertain significance	22	36294976	36294976	Human	1	alternate_id
597668400	CV3727139	single nucleotide variant	NM_002473.6(MYH9):c.3565G>C (p.Glu1189Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029346]	uncertain significance	22	36294997	36294997	Human	1	alternate_id
597668409	CV3727140	single nucleotide variant	NM_002473.6(MYH9):c.3486-16G>A	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029347]	uncertain significance	22	36295092	36295092	Human	1	alternate_id
597694698	CV3727142	single nucleotide variant	NM_002473.6(MYH9):c.3436A>G (p.Thr1146Ala)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032826]	uncertain significance	22	36295554	36295554	Human	1	alternate_id
597694708	CV3727143	single nucleotide variant	NM_002473.6(MYH9):c.3319C>T (p.Arg1107Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032827]	uncertain significance	22	36295671	36295671	Human	1	alternate_id
597668417	CV3727144	single nucleotide variant	NM_002473.6(MYH9):c.3238A>G (p.Lys1080Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029348]	uncertain significance	22	36296877	36296877	Human	1	alternate_id
597694722	CV3727145	single nucleotide variant	NM_002473.6(MYH9):c.3206C>T (p.Ala1069Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032828]	uncertain significance	22	36296909	36296909	Human	1	alternate_id
597694735	CV3727146	single nucleotide variant	NM_002473.6(MYH9):c.3109C>T (p.Arg1037Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032829]\|not provided [RCV005241577]	uncertain significance	22	36297006	36297006	Human	1	alternate_id
597668426	CV3727147	single nucleotide variant	NM_002473.6(MYH9):c.3101-12C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029349]	uncertain significance	22	36297026	36297026	Human	1	alternate_id
597694745	CV3727148	single nucleotide variant	NM_002473.6(MYH9):c.3100G>A (p.Glu1034Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032830]	uncertain significance	22	36298919	36298919	Human	1	alternate_id
597668433	CV3727150	single nucleotide variant	NM_002473.6(MYH9):c.3020A>G (p.Asn1007Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029350]	uncertain significance	22	36298999	36298999	Human	1	alternate_id
597668455	CV3727151	single nucleotide variant	NM_002473.6(MYH9):c.2908G>A (p.Glu970Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029352]	uncertain significance	22	36300195	36300195	Human	1	alternate_id
597668463	CV3727152	single nucleotide variant	NM_002473.6(MYH9):c.2875C>T (p.Arg959Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029353]	uncertain significance	22	36300228	36300228	Human	1	alternate_id
597694757	CV3727153	single nucleotide variant	NM_002473.6(MYH9):c.2796G>A (p.Gln932=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032831]	uncertain significance	22	36300893	36300893	Human	1	alternate_id
597668471	CV3727154	single nucleotide variant	NM_002473.6(MYH9):c.2774A>G (p.Glu925Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029354]	uncertain significance	22	36300915	36300915	Human	1	alternate_id
597668481	CV3727155	single nucleotide variant	NM_002473.6(MYH9):c.2771T>C (p.Val924Ala)	Inborn genetic diseases [RCV005377690]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029355]	likely benign\|uncertain significance	22	36300918	36300918	Human	2	alternate_id
597668491	CV3727156	single nucleotide variant	NM_002473.6(MYH9):c.2692G>A (p.Glu898Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029356]\|not provided [RCV005112809]	likely benign\|uncertain significance	22	36300997	36300997	Human	1	alternate_id
597668500	CV3727157	single nucleotide variant	NM_002473.6(MYH9):c.2659G>A (p.Glu887Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029357]	uncertain significance	22	36301030	36301030	Human	1	alternate_id
597668507	CV3727159	single nucleotide variant	NM_002473.6(MYH9):c.2458C>T (p.Leu820=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029358]	uncertain significance	22	36302609	36302609	Human	1	alternate_id
597668516	CV3727160	single nucleotide variant	NM_002473.6(MYH9):c.2453C>T (p.Ala818Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029359]	uncertain significance	22	36302614	36302614	Human	1	alternate_id
597668524	CV3727161	single nucleotide variant	NM_002473.6(MYH9):c.2427G>A (p.Met809Ile)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029360]\|not provided [RCV005112810]	uncertain significance	22	36302640	36302640	Human	1	alternate_id
597668530	CV3727162	single nucleotide variant	NM_002473.6(MYH9):c.2383G>T (p.Ala795Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029361]	uncertain significance	22	36304002	36304002	Human	1	alternate_id
597668539	CV3727163	single nucleotide variant	NM_002473.6(MYH9):c.2339C>G (p.Thr780Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029362]	uncertain significance	22	36304046	36304046	Human	1	alternate_id
597668547	CV3727164	single nucleotide variant	NM_002473.6(MYH9):c.2321A>G (p.Glu774Gly)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029363]	uncertain significance	22	36304064	36304064	Human	1	alternate_id
597668556	CV3727165	single nucleotide variant	NM_002473.6(MYH9):c.2189C>T (p.Pro730Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029364]	uncertain significance	22	36305073	36305073	Human	1	alternate_id
597668565	CV3727166	single nucleotide variant	NM_002473.6(MYH9):c.2164G>C (p.Glu722Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029365]	uncertain significance	22	36305098	36305098	Human	1	alternate_id
597668572	CV3727167	single nucleotide variant	NM_002473.6(MYH9):c.2137G>A (p.Val713Ile)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029366]	uncertain significance	22	36305952	36305952	Human	1	alternate_id
597668582	CV3727168	single nucleotide variant	NM_002473.6(MYH9):c.2037+17G>A	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029367]	uncertain significance	22	36306397	36306397	Human	1	alternate_id
597694791	CV3727169	deletion	NM_002473.6(MYH9):c.2037+3del	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032834]	uncertain significance	22	36306411	36306411	Human	1	alternate_id
597668592	CV3727170	single nucleotide variant	NM_002473.6(MYH9):c.1843+5G>A	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029368]	uncertain significance	22	36309277	36309277	Human	1	alternate_id
597668599	CV3727171	single nucleotide variant	NM_002473.6(MYH9):c.1826C>T (p.Ser609Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029369]	uncertain significance	22	36309299	36309299	Human	1	alternate_id
597694803	CV3727172	single nucleotide variant	NM_002473.6(MYH9):c.1798C>T (p.Leu600Phe)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032835]\|not provided [RCV005230822]	uncertain significance	22	36309327	36309327	Human	1	alternate_id
597668610	CV3727174	single nucleotide variant	NM_002473.6(MYH9):c.1636G>A (p.Val546Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029370]	uncertain significance	22	36312141	36312141	Human	1	alternate_id
597694817	CV3727175	single nucleotide variant	NM_002473.6(MYH9):c.1632G>T (p.Glu544Asp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032836]	uncertain significance	22	36312145	36312145	Human	1	alternate_id
597668617	CV3727176	single nucleotide variant	NM_002473.6(MYH9):c.1615G>C (p.Asp539His)	Inborn genetic diseases [RCV005377691]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029371]\|not provided [RCV005063263]	uncertain significance	22	36312162	36312162	Human	2	alternate_id
597668626	CV3727177	single nucleotide variant	NM_002473.6(MYH9):c.1349T>C (p.Ile450Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029372]	uncertain significance	22	36316548	36316548	Human	1	alternate_id
597668634	CV3727178	single nucleotide variant	NM_002473.6(MYH9):c.1333G>T (p.Ala445Ser)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029373]	uncertain significance	22	36316564	36316564	Human	1	alternate_id
597694828	CV3727179	single nucleotide variant	NM_002473.6(MYH9):c.1321A>G (p.Lys441Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032837]	uncertain significance	22	36316576	36316576	Human	1	alternate_id
597668644	CV3727180	single nucleotide variant	NM_002473.6(MYH9):c.1253C>T (p.Ala418Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029374]	uncertain significance	22	36316644	36316644	Human	1	alternate_id
597668656	CV3727181	single nucleotide variant	NM_002473.6(MYH9):c.1211C>T (p.Ala404Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029375]	uncertain significance	22	36318223	36318223	Human	1	alternate_id
597694838	CV3727183	single nucleotide variant	NM_002473.6(MYH9):c.952A>C (p.Met318Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032838]	uncertain significance	22	36320280	36320280	Human	1	alternate_id
597668665	CV3727184	single nucleotide variant	NM_002473.6(MYH9):c.934G>A (p.Gly312Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029376]	uncertain significance	22	36320298	36320298	Human	1	alternate_id
597668672	CV3727185	single nucleotide variant	NM_002473.6(MYH9):c.902G>A (p.Arg301His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029377]	uncertain significance	22	36320330	36320330	Human	1	alternate_id
597668684	CV3727186	single nucleotide variant	NM_002473.6(MYH9):c.869-11A>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029378]	uncertain significance	22	36320374	36320374	Human	1	alternate_id
597694850	CV3727187	single nucleotide variant	NM_002473.6(MYH9):c.868+7A>C	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032839]	uncertain significance	22	36320791	36320791	Human	1	alternate_id
597668693	CV3727188	single nucleotide variant	NM_002473.6(MYH9):c.785C>G (p.Ser262Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029379]	uncertain significance	22	36320881	36320881	Human	1	alternate_id
597668704	CV3727189	single nucleotide variant	NM_002473.6(MYH9):c.609C>G (p.Asp203Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029380]	uncertain significance	22	36326571	36326571	Human	1	alternate_id
597668712	CV3727190	single nucleotide variant	NM_002473.6(MYH9):c.591G>T (p.Ser197=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029381]	uncertain significance	22	36326589	36326589	Human	1	alternate_id
597694871	CV3727191	insertion	NM_002473.6(MYH9):c.519-4_519-3insA	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032841]	uncertain significance	22	36326664	36326665	Human	1	alternate_id
597668722	CV3727192	single nucleotide variant	NM_002473.6(MYH9):c.493C>T (p.Arg165Ter)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029382]	uncertain significance	22	36327486	36327486	Human	1	alternate_id
597668732	CV3727193	single nucleotide variant	NM_002473.6(MYH9):c.385A>G (p.Ile129Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029383]	uncertain significance	22	36341475	36341475	Human	1	alternate_id
597668741	CV3727194	single nucleotide variant	NM_002473.6(MYH9):c.250G>C (p.Glu84Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029384]	uncertain significance	22	36348987	36348987	Human	1	alternate_id
597694880	CV3727195	single nucleotide variant	NM_002473.6(MYH9):c.181A>T (p.Asn61Tyr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032842]	uncertain significance	22	36349056	36349056	Human	1	alternate_id
597668749	CV3727196	single nucleotide variant	NM_002473.6(MYH9):c.160G>C (p.Ala54Pro)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029385]\|not provided [RCV005063264]	uncertain significance	22	36349077	36349077	Human	1	alternate_id
597668757	CV3727197	single nucleotide variant	NM_002473.6(MYH9):c.59C>T (p.Pro20Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029386]	uncertain significance	22	36349178	36349178	Human	1	alternate_id
597694893	CV3727198	single nucleotide variant	NM_002473.6(MYH9):c.19G>A (p.Asp7Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005032843]	uncertain significance	22	36349218	36349218	Human	1	alternate_id
597857901	CV3822332	single nucleotide variant	NM_002473.6(MYH9):c.4397G>A (p.Arg1466Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005392989]\|not provided [RCV005174630]	likely benign\|uncertain significance	22	36289245	36289245	Human	1	alternate_id
598208293	CV4007665	single nucleotide variant	NM_002473.6(MYH9):c.1900G>C (p.Gly634Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005399979]	uncertain significance	22	36306551	36306551	Human	1	alternate_id
598208298	CV4007666	single nucleotide variant	NM_002473.6(MYH9):c.3859G>A (p.Gly1287Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005399980]	uncertain significance	22	36293842	36293842	Human	1	alternate_id
598208302	CV4007667	single nucleotide variant	NM_002473.6(MYH9):c.4954C>T (p.Arg1652Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005399981]	uncertain significance	22	36286825	36286825	Human	1	alternate_id
616932947	CV4010444	single nucleotide variant	NM_002473.6(MYH9):c.216C>G (p.Ile72Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005403789]	uncertain significance	22	36349021	36349021	Human	1	alternate_id
13435631	CV432343	microsatellite	NM_002473.6(MYH9):c.5275-7_5275-5del	MYH9-related disorder [RCV004535630]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000505677]\|not provided [RCV003660810]	uncertain significance	22	36285334	36285336	Human		alternate_id
13442730	CV434682	single nucleotide variant	NM_002473.6(MYH9):c.5563C>T (p.Arg1855Trp)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000509305]\|not provided [RCV004794400]	uncertain significance\|not provided	22	36284432	36284432	Human	1	alternate_id
8570212	CV47567	single nucleotide variant	NM_002473.6(MYH9):c.2900T>A (p.Val967Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032219]	benign	22	36300203	36300203	Human		alternate_id
8570213	CV47568	single nucleotide variant	NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032221]	pathogenic\|not provided	22	36295068	36295068	Human	1	alternate_id
8570214	CV47569	single nucleotide variant	NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)	MYH9-related disorder [RCV000790359]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032224]\|not provided [RCV002513293]	pathogenic	22	36292060	36292060	Human	1	alternate_id
8570215	CV47570	single nucleotide variant	NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000402895]\|MYH9-related disorder [RCV000368736]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032225]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or se ... (more) nsorineural hearing loss [RCV002504851]\|not provided [RCV002054532]\|not specified [RCV000037563]	benign	22	36288308	36288308	Human	4	alternate_id
13518506	CV486304	single nucleotide variant	NM_002473.6(MYH9):c.4298G>A (p.Arg1433His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483561]\|not provided [RCV000584865]\|not specified [RCV005240241]	uncertain significance	22	36292032	36292032	Human	1	alternate_id
13520163	CV488868	single nucleotide variant	NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002497249]\|not provided [RCV000598425]	likely benign\|uncertain significance	22	36288833	36288833	Human	1	alternate_id
13522921	CV491214	single nucleotide variant	NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser)	Glomerulonephritis [RCV001195704]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483612]\|not provided [RCV000592360]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36285747	36285747	Human	3	alternate_id
13533810	CV497348	single nucleotide variant	NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483682]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003444605]\|not provided [RCV003767458]\|not specified [RCV000601770]	likely benign\|uncertain significance	22	36295593	36295593	Human	1	alternate_id
13537543	CV497536	single nucleotide variant	NM_002473.6(MYH9):c.193G>A (p.Val65Met)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000765636]\|not provided [RCV002531128]\|not specified [RCV000610555]	likely benign\|uncertain significance	22	36349044	36349044	Human	1	alternate_id
13529973	CV497759	single nucleotide variant	NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005027719]\|not provided [RCV001824345]\|not specified [RCV000600513]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36300970	36300970	Human	1	alternate_id
13525339	CV497761	single nucleotide variant	NM_002473.6(MYH9):c.2077C>T (p.Arg693Cys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992344]\|not provided [RCV001755996]\|not specified [RCV000603024]	uncertain significance	22	36306012	36306012	Human	1	alternate_id
13538609	CV497762	single nucleotide variant	NM_002473.6(MYH9):c.1686G>A (p.Leu562=)	MYH9-related disorder [RCV004544801]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002491301]\|not provided [RCV000918004]\|not specified [RCV000612083]	benign\|likely benign	22	36312091	36312091	Human	1	alternate_id
13537145	CV508410	single nucleotide variant	NM_002473.6(MYH9):c.3942+5G>A	MYH9-related disorder [RCV004530756]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005034191]\|not provided [RCV001697411]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36293754	36293754	Human	1	alternate_id
13534335	CV513148	single nucleotide variant	NM_002473.6(MYH9):c.658G>A (p.Ala220Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000625590]	uncertain significance	22	36322476	36322476	Human	1	alternate_id
8607360	CV53716	single nucleotide variant	NM_002473.6(MYH9):c.1108+9C>T	Atypical hemolytic-uremic syndrome [RCV002293992]\|Autosomal dominant nonsyndromic hearing loss 17 [RCV000317889]\|MYH9-related disorder [RCV000279147]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496594]\|not provided [RCV000843626]\|no ... (more) t specified [RCV000037546]	benign\|likely benign	22	36319531	36319531	Human	4	alternate_id
8607361	CV53717	single nucleotide variant	NM_002473.6(MYH9):c.1554+7A>G	Autosomal dominant nonsyndromic hearing loss 17 [RCV000334868]\|MYH9-related disorder [RCV000392730]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778677]\|not provided [RCV002054668]\|not specified [RCV000037547]	benign	22	36314138	36314138	Human	3	alternate_id
8607362	CV53718	single nucleotide variant	NM_002473.6(MYH9):c.1728+10G>A	Atypical hemolytic-uremic syndrome [RCV002293993]\|Autosomal dominant nonsyndromic hearing loss 17 [RCV000378689]\|MYH9-related disorder [RCV000326334]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778678]\|not provided [RCV001811263]\|no ... (more) t specified [RCV000037548]	benign	22	36312039	36312039	Human	4	alternate_id
8607363	CV53719	single nucleotide variant	NM_002473.6(MYH9):c.1729-6C>T	Autosomal dominant nonsyndromic hearing loss 17 [RCV000269211]\|Kidney disorder [RCV002293994]\|MYH9-related disorder [RCV000384702]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496595]\|not provided [RCV000839997]\|not specified [RCV000 ... (more) 037549]	benign\|likely benign	22	36309402	36309402	Human	5	alternate_id
8607364	CV53720	single nucleotide variant	NM_002473.6(MYH9):c.2038-5T>C	Autosomal dominant nonsyndromic hearing loss 17 [RCV000314431]\|Kidney disorder [RCV002293995]\|MYH9-related disorder [RCV000366795]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490512]\|not provided [RCV000839998]\|not specified [RCV000 ... (more) 037550]	benign\|likely benign	22	36306056	36306056	Human	5	alternate_id
8607370	CV53726	single nucleotide variant	NM_002473.6(MYH9):c.3429T>G (p.Ala1143=)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000404023]\|MYH9-related disorder [RCV000351776]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778679]\|not provided [RCV002054670]\|not specified [RCV000037556]	benign	22	36295561	36295561	Human	3	alternate_id
8607373	CV53729	single nucleotide variant	NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000382897]\|MYH9-related disorder [RCV000346916]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990430]\|Meniere disease [RCV004566805]\|not provided [RCV000992411]\|not specified [RCV000 ... (more) 037559]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36292132	36292132	Human	4	alternate_id
8607376	CV53732	single nucleotide variant	NM_002473.6(MYH9):c.4872G>T (p.Ala1624=)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000310599]\|MYH9-related disorder [RCV000365226]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778680]\|not provided [RCV002054671]\|not specified [RCV000037562]	benign	22	36288312	36288312	Human	6	alternate_id
8607376	CV53732	single nucleotide variant	NM_002473.6(MYH9):c.4872G>T (p.Ala1624=)	Autosomal dominant nonsyndromic hearing loss 17 [RCV000310599]\|MYH9-related disorder [RCV000365226]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778680]\|not provided [RCV002054671]\|not specified [RCV000037562]	benign	22	36288312	36288313	Human	6	alternate_id
13799129	CV553548	single nucleotide variant	NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002470950]\|not provided [RCV000681823]	likely pathogenic	22	36316626	36316626	Human	1	alternate_id
13831640	CV582137	microsatellite	NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002265869]\|not provided [RCV000722320]	uncertain significance	22	36300868	36300870	Human		alternate_id
13832416	CV582910	single nucleotide variant	NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu)	Inborn genetic diseases [RCV002533072]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002493303]\|not provided [RCV000723104]	uncertain significance	22	36294187	36294187	Human	2	alternate_id
13838551	CV590338	single nucleotide variant	NM_002473.6(MYH9):c.5081G>A (p.Arg1694His)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000735682]\|not provided [RCV002245632]	uncertain significance	22	36285934	36285934	Human	1	alternate_id
13838619	CV590339	single nucleotide variant	NM_002473.6(MYH9):c.4261G>A (p.Glu1421Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000735759]	uncertain significance	22	36292069	36292069	Human	1	alternate_id
14700499	CV612062	single nucleotide variant	NM_002473.6(MYH9):c.4302G>C (p.Gln1434His)	MYH9-related disorder [RCV000790345]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500987]\|not provided [RCV002533860]	likely benign\|uncertain significance	22	36292028	36292028	Human	1	alternate_id
14700498	CV612064	single nucleotide variant	NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu)	MYH9-related disorder [RCV000790343]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245638]\|not provided [RCV005056508]	uncertain significance	22	36294978	36294978	Human	1	alternate_id
14700507	CV612068	single nucleotide variant	NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)	MYH9-related disorder [RCV000790356]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002249462]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029411]\|not provided [RCV001869 ... (more) 038]	pathogenic\|likely pathogenic\|uncertain significance	22	36301658	36301658	Human	1	alternate_id
14700506	CV612069	single nucleotide variant	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9-related disorder [RCV000790355]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245640]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002507333]\|not provided [RCV003117 ... (more) 546]	pathogenic\|likely pathogenic	22	36305937	36305937	Human	1	alternate_id
14700504	CV612071	single nucleotide variant	NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	MYH9-related disorder [RCV000790351]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002222623]\|not provided [RCV005092192]	pathogenic\|likely pathogenic	22	36348954	36348954	Human	1	alternate_id
14700503	CV612072	single nucleotide variant	NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)	MYH9-related disorder [RCV000790349]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245639]\|not provided [RCV003558559]	likely pathogenic	22	36349017	36349017	Human	1	alternate_id
14975674	CV615654	single nucleotide variant	NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001150617]\|MYH9-related disorder [RCV001150616]\|Macrothrombocytopenia [RCV000851808]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245650]\|Macrothrombocytopenia and granulocyte inclu ... (more) sions with or without nephritis or sensorineural hearing loss [RCV005029420]\|not provided [RCV001855731]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36285941	36285941	Human	4	alternate_id
14975597	CV615660	single nucleotide variant	NM_002473.6(MYH9):c.154G>A (p.Glu52Lys)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002493406]\|Thrombocytopenia [RCV000851706]	uncertain significance	22	36349083	36349083	Human	3	alternate_id
14696590	CV622124	single nucleotide variant	NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005036114]\|not provided [RCV000782240]	likely benign\|uncertain significance	22	36284228	36284228	Human	1	alternate_id
14698192	CV623356	single nucleotide variant	NM_002473.6(MYH9):c.1730T>C (p.Val577Ala)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000787012]	uncertain significance	22	36309395	36309395	Human	1	alternate_id
14703730	CV654930	single nucleotide variant	NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)	Inborn genetic diseases [RCV004029187]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029517]\|Nephrotic syndrome [RCV001580283]\|not provided [RCV000992414]\|not specified [RCV000825379]	conflicting interpretations of pathogenicity\|uncertain significance	22	36285266	36285266	Human	4	alternate_id
14703723	CV654934	single nucleotide variant	NM_002473.6(MYH9):c.3272+3G>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487866]\|not provided [RCV001858388]\|not specified [RCV000825376]	uncertain significance	22	36296840	36296840	Human	1	alternate_id
14704517	CV654935	single nucleotide variant	NM_002473.6(MYH9):c.3246G>A (p.Glu1082=)	MYH9-related disorder [RCV004538140]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478936]\|Nephrotic syndrome [RCV004773204]\|not provided [RCV000899985]\|not specified [RCV000825780]	likely benign\|uncertain significance	22	36296869	36296869	Human	3	alternate_id
14703731	CV654936	single nucleotide variant	NM_002473.6(MYH9):c.3082A>G (p.Met1028Val)	Inborn genetic diseases [RCV004958183]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002495189]\|not provided [RCV005092469]\|not specified [RCV000825380]	likely benign\|uncertain significance	22	36298937	36298937	Human	2	alternate_id
14704262	CV654939	single nucleotide variant	NM_002473.6(MYH9):c.255C>T (p.Asp85=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487869]\|not provided [RCV001712792]\|not specified [RCV000825675]	benign\|likely benign	22	36348982	36348982	Human	1	alternate_id
14703735	CV654940	single nucleotide variant	NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001334060]\|Inborn genetic diseases [RCV004958184]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487867]\|not provided [RCV001571969]\|not specified [RCV000825381]	conflicting interpretations of pathogenicity\|uncertain significance	22	36349218	36349218	Human	4	alternate_id
14741218	CV656689	single nucleotide variant	NM_002473.6(MYH9):c.3195C>A (p.Ala1065=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501172]\|not provided [RCV000840685]	benign\|likely benign	22	36296920	36296920	Human	1	alternate_id
14743789	CV656690	single nucleotide variant	NM_002473.6(MYH9):c.2911G>A (p.Ala971Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029519]\|not provided [RCV000842303]	benign\|likely benign	22	36300192	36300192	Human	1	alternate_id
15196696	CV729163	single nucleotide variant	NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501455]\|not provided [RCV000889844]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	36284453	36284453	Human	1	alternate_id
15196778	CV729165	single nucleotide variant	NM_002473.6(MYH9):c.2085C>T (p.Asn695=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002495384]\|not provided [RCV000889867]	likely benign	22	36306004	36306004	Human	1	alternate_id
15189309	CV742876	single nucleotide variant	NM_002473.6(MYH9):c.4218C>T (p.Ala1406=)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502723]\|not provided [RCV000909613]\|not specified [RCV005408070]	likely benign	22	36292112	36292112	Human	1	alternate_id
15201350	CV758068	single nucleotide variant	NM_002473.6(MYH9):c.5764A>C (p.Arg1922=)	MYH9-related disorder [RCV004533501]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002495511]\|not provided [RCV000913112]	likely benign	22	36284094	36284094	Human	1	alternate_id
15115487	CV776801	single nucleotide variant	NM_002473.6(MYH9):c.2230-9C>T	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502876]\|not provided [RCV000939495]	likely benign	22	36304164	36304164	Human	1	alternate_id
15138704	CV786592	single nucleotide variant	NM_002473.6(MYH9):c.1788C>T (p.Ile596=)	Kidney disorder [RCV002294433]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503136]\|not provided [RCV000982515]	likely benign\|uncertain significance	22	36309337	36309337	Human	5	alternate_id
21068476	CV798093	single nucleotide variant	NM_002473.6(MYH9):c.4008C>T (p.Asp1336=)	MYH9-related disorder [RCV004536037]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002497309]\|not provided [RCV000997916]	benign\|likely benign	22	36293416	36293416	Human	1	alternate_id
21068332	CV798094	single nucleotide variant	NM_002473.6(MYH9):c.1519G>A (p.Asp507Asn)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029556]\|not provided [RCV000997917]	uncertain significance	22	36314180	36314180	Human	1	alternate_id
25314942	CV818346	single nucleotide variant	NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001144413]\|MYH9-related disorder [RCV001144414]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001029915]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or se ... (more) nsorineural hearing loss [RCV005036299]\|not provided [RCV001352047]	benign\|uncertain significance	22	36284187	36284187	Human	3	alternate_id
25314832	CV818347	single nucleotide variant	NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001029843]	uncertain significance	22	36288278	36288278	Human	1	alternate_id
25314862	CV818348	single nucleotide variant	NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001029861]	uncertain significance	22	36289090	36289090	Human	1	alternate_id
28879826	CV891213	single nucleotide variant	NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001149111]\|MYH9-related disorder [RCV001149112]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003444778]\|not provided [RCV001593293]\|not specified [RCV003331054]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36285226	36285226	Human	3	alternate_id
28884639	CV891215	single nucleotide variant	NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001150614]\|Inborn genetic diseases [RCV002559454]\|MYH9-related disorder [RCV001150615]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003339517]\|not provided [RCV002559453]	likely benign\|uncertain significance	22	36285907	36285907	Human	4	alternate_id
28904557	CV891216	single nucleotide variant	NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001144524]\|MYH9-related disorder [RCV001144525]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029718]	uncertain significance	22	36286820	36286820	Human	3	alternate_id
28885041	CV891219	single nucleotide variant	NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)	Autosomal dominant nonsyndromic hearing loss 17 [RCV001150731]\|MYH9-related disorder [RCV001150732]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005029731]\|Proteinuria [RCV002284214]\|not provided [RCV003442215]\|not specified [RCV0018198 ... (more) 58]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	36288367	36288367	Human	5	alternate_id
28873714	CV891826	single nucleotide variant	NM_002473.6(MYH9):c.2500-9C>T	Autosomal dominant nonsyndromic hearing loss 17 [RCV001146886]\|MYH9-related disorder [RCV001146885]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002480541]\|not provided [RCV003660857]	likely benign\|uncertain significance	22	36301674	36301674	Human	3	alternate_id
38459234	CV918462	single nucleotide variant	NM_002473.6(MYH9):c.659C>T (p.Ala220Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484065]\|not specified [RCV001195621]	uncertain significance	22	36322475	36322475	Human	1	alternate_id
38462811	CV919951	single nucleotide variant	NM_002473.6(MYH9):c.1960C>G (p.Leu654Val)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001198707]	uncertain significance	22	36306491	36306491	Human	1	alternate_id
38469570	CV921221	single nucleotide variant	NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg)	Inborn genetic diseases [RCV002559285]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001200891]\|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484074]\|not provided [RCV0015 ... (more) 58599]	conflicting interpretations of pathogenicity\|uncertain significance	22	36294228	36294228	Human	2	alternate_id

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