Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	SNV Germline	Chr22:36282754	Pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Condition: not provided Abnormal bleeding Thrombocytopenia MYH9-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257082	rs_80338835	14 SubmittersRCV000015116 RCV001092002 RCV001270545 RCV000790363
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	SNV Germline	Chr22:36284474	Pathogenic/Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder Condition: not provided Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Multiple Submitters No Conflicts	CA257085	rs_80338834	10 SubmittersRCV000015119 RCV000790361 RCV001310800 RCV002466403
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	SNV Germline	Chr22:36295069	Pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder Condition: not provided Thrombocytopenia Abnormal bleeding Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Multiple Submitters No Conflicts	CA257087	rs_80338829	15 SubmittersRCV000015121 RCV000790357 RCV001092004 RCV001270614 RCV001542710
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)	SNV Germline	Chr22:36348958	Pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257089	rs_121913655	4 SubmittersRCV000015122 RCV000790350
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	SNV Germline	Chr22:36305985	Pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Condition: not provided MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Multiple Submitters No Conflicts	CA257095	rs_80338826	14 SubmittersRCV000015129 RCV000523446 RCV000790354 RCV002490369 RCV003147289
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	SNV Germline	Chr22:36305984	Pathogenic/Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257101	rs_80338827	8 SubmittersRCV000015132 RCV000851738 RCV001851865
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	SNV Germline	Chr22:36292060	Pathogenic/Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder Thrombocytopenia Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123739	rs_80338831	13 SubmittersRCV000015134 RCV000790358 RCV001271110 RCV002496364 RCV002466404 RCV002513058
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	SNV Germline	Chr22:36348950	Pathogenic/Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA257103	rs_121913657	11 SubmittersRCV000015138 RCV000790352 RCV000477821 RCV001537286
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)	SNV Germline	Chr22:36292060	Pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA343280	rs_80338831	4 SubmittersRCV000032224 RCV000790359 RCV002513293
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)	SNV Germline	Chr22:36296923	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA134523	rs_144807538	9 SubmittersRCV000037554 RCV000281034 RCV000375503 RCV000725348
NM_002473.6(MYH9):c.5151-4G>A	SNV Germline	Chr22:36285785	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA134555	rs_368125656	6 SubmittersRCV000037566 RCV000724182 RCV004534794
NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)	SNV Germline	Chr22:36285908	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA184333	rs_569541375	4 SubmittersRCV000156181 RCV001785481 RCV004544449
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)	SNV Germline	Chr22:36286753	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Hearing impairment	Criteria Provided Conflicting Classifications	CA177069	rs_138158369	8 SubmittersRCV000151322 RCV000416222 RCV001150618 RCV001150619 RCV001375382
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)	SNV Germline	Chr22:36288306	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA182318	rs_143947828	8 SubmittersRCV000155179 RCV000406494 RCV000314016 RCV000724778
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys)	SNV Germline	Chr22:36292033	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA177096	rs_727503286	3 SubmittersRCV000151332 RCV000276612 RCV000331644 RCV001850062
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)	SNV Germline	Chr22:36295650	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Criteria Provided Conflicting Classifications	CA177103	rs_200901330	8 SubmittersRCV000151335 RCV000268989 RCV000363597 RCV000767070 RCV000990431
NM_002473.6(MYH9):c.1491C>T (p.Ile497=)	SNV Germline	Chr22:36314208	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA177138	rs_146487404	5 SubmittersRCV000151349 RCV000727283 RCV004532679
NM_002473.6(MYH9):c.591G>A (p.Ser197=)	SNV Germline	Chr22:36326589	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA177154	rs_140241271	5 SubmittersRCV000151355 RCV000725037 RCV004532681
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)	SNV Germline	Chr22:36289086	Conflicting classifications of pathogenicity	not specified Condition: not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder	Criteria Provided Conflicting Classifications	CA177078	rs_138193963	6 SubmittersRCV000151325 RCV000727282 RCV002483309 RCV004532678
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)	SNV Germline	Chr22:36289246	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA177087	rs_139134727	11 SubmittersRCV000151329 RCV000293752 RCV000348717 RCV000726552
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)	SNV Germline	Chr22:36292105	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA177099	rs_34292387	7 SubmittersRCV000151333 RCV000386272 RCV000291994 RCV000724779 RCV004567172
NM_002473.6(MYH9):c.3943-7C>A	SNV Germline	Chr22:36293488	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA182324	rs_376396278	4 SubmittersRCV000155181 RCV001731400 RCV004534986
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)	SNV Germline	Chr22:36300231	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Criteria Provided Conflicting Classifications	CA177111	rs_151036570	8 SubmittersRCV000151338 RCV000293055 RCV000387348 RCV000726812 RCV002243824
NM_002473.6(MYH9):c.491-7G>A	SNV Germline	Chr22:36327495	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA177160	rs_200059134	3 SubmittersRCV000151357 RCV002055991 RCV004532682
NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val)	SNV Germline	Chr22:36291990	Likely pathogenic	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder	Criteria Provided Single Submitter	CA347309	rs_797044804	2 SubmittersRCV000192270 RCV000790360
NM_002473.6(MYH9):c.*8C>T	SNV Germline	Chr22:36282660	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10208880	rs_201455315	4 SubmittersRCV000215226 RCV000310238 RCV000367215 RCV001589132
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met)	SNV Germline	Chr22:36292083	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10209422	rs_758626716	4 SubmittersRCV000216020 RCV001150836 RCV001150837 RCV001555721
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=)	SNV Germline	Chr22:36295001	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder	Criteria Provided Conflicting Classifications	CA10577137	rs_876657520	2 SubmittersRCV000221175 RCV000278106 RCV000392722
NM_002473.6(MYH9):c.1890C>T (p.Thr630=)	SNV Germline	Chr22:36306561	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10210145	rs_762239398	4 SubmittersRCV000213996 RCV001147291 RCV001147290 RCV002517482
NM_002473.6(MYH9):c.1722C>T (p.Ala574=)	SNV Germline	Chr22:36312055	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10210228	rs_373381680	4 SubmittersRCV000220323 RCV001148194 RCV001148195 RCV002519609
NM_002473.6(MYH9):c.519-6T>G	SNV Germline	Chr22:36326667	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10577139	rs_867195616	4 SubmittersRCV000220999 RCV001145644 RCV001145645 RCV001589133
NM_002473.6(MYH9):c.5766-5C>T	SNV Germline	Chr22:36282790	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications	CA10208911	rs_746967490	4 SubmittersRCV000248551 RCV000924999 RCV001150500 RCV001150501
NM_002473.6(MYH9):c.2205C>T (p.Asp735=)	SNV Germline	Chr22:36305057	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10210054	rs_370860479	3 SubmittersRCV000242446 RCV000296989 RCV000402946 RCV003765517
NM_002473.6(MYH9):c.1344C>T (p.Ile448=)	SNV Germline	Chr22:36316553	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10210303	rs_150125254	4 SubmittersRCV000253361 RCV000403087 RCV000365289 RCV001589255
NM_002473.6(MYH9):c.543G>A (p.Thr181=)	SNV Germline	Chr22:36326637	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10210593	rs_146514663	3 SubmittersRCV000252678 RCV000275864 RCV000354263 RCV000963405
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=)	SNV Germline	Chr22:36296902	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA10209727	rs_552133535	3 SubmittersRCV000334598 RCV004543097
NM_002473.6(MYH9):c.1566G>A (p.Pro522=)	SNV Germline	Chr22:36312211	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA10210244	rs_145517108	5 SubmittersRCV000311142 RCV000726041 RCV004535390
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)	SNV Germline	Chr22:36288366	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 not specified MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10209279	rs_202132383	5 SubmittersRCV000266596 RCV000350880 RCV000361326 RCV000726429
NM_002473.6(MYH9):c.*474C>T	SNV Germline	Chr22:36282194	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10645439	rs_55979529	2 SubmittersRCV000297726 RCV000336344 RCV003437086
NM_002473.6(MYH9):c.5717C>T (p.Thr1906Met)	SNV Germline	Chr22:36284141	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10208952	rs_149663189	2 SubmittersRCV000343175 RCV000392449 RCV003727702
NM_002473.6(MYH9):c.4348C>T (p.Leu1450=)	SNV Germline	Chr22:36289294	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10209376	rs_764948348	2 SubmittersRCV000304641 RCV000359415 RCV002523219
NM_002473.6(MYH9):c.4305C>T (p.Ser1435=)	SNV Germline	Chr22:36292025	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications	CA10209415	rs_768359816	1 SubmittersRCV000316358 RCV000389572
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=)	SNV Germline	Chr22:36293786	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10209520	rs_183685723	3 SubmittersRCV000339937 RCV000403021 RCV000615651 RCV003727703
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln)	SNV Germline	Chr22:36294252	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10209593	rs_200697030	3 SubmittersRCV000271817 RCV000326885 RCV002480197 RCV002523221
NM_002473.6(MYH9):c.1098C>T (p.Pro366=)	SNV Germline	Chr22:36319550	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10210390	rs_537679678	4 SubmittersRCV000296755 RCV000388514 RCV001570097
NM_002473.6(MYH9):c.132C>T (p.Ala44=)	SNV Germline	Chr22:36349105	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10210719	rs_138526426	3 SubmittersRCV000299680 RCV000407910 RCV000825781 RCV002524454
NM_002473.6(MYH9):c.5593-14G>A	SNV Germline	Chr22:36284279	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10208981	rs_201676960	2 SubmittersRCV000289396 RCV000346764 RCV003765976
NM_002473.6(MYH9):c.4972C>T (p.Arg1658Cys)	SNV Germline	Chr22:36286807	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications	CA10209219	rs_143972348	1 SubmittersRCV000287421 RCV000323686
NM_002473.6(MYH9):c.4830C>T (p.Ala1610=)	SNV Germline	Chr22:36288354	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10209277	rs_751904301	3 SubmittersRCV000270577 RCV000307029 RCV003765977
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln)	SNV Germline	Chr22:36293399	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10209485	rs_758159686	4 SubmittersRCV000285049 RCV000408217 RCV000997915
NM_002473.6(MYH9):c.3838-11G>A	SNV Germline	Chr22:36293874	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10209544	rs_754547754	2 SubmittersRCV000275172 RCV000369861 RCV002523220
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)	SNV Germline	Chr22:36295670	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10209689	rs_137924205	6 SubmittersRCV000324164 RCV000360226 RCV002057800 RCV001449723
NM_002473.6(MYH9):c.2598C>G (p.Asn866Lys)	SNV Germline	Chr22:36301567	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10209927	rs_750718366	3 SubmittersRCV000262620 RCV000359728 RCV001753803 RCV002523222
NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn)	SNV Germline	Chr22:36318284	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10210363	rs_767088377	2 SubmittersRCV000319014 RCV000375903 RCV003727704
NM_002473.6(MYH9):c.*193C>T	SNV Germline	Chr22:36282475	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications	CA10653456	rs_181364853	1 SubmittersRCV000295275 RCV000352444
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg)	SNV Germline	Chr22:36285148	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10209055	rs_368440234	5 SubmittersRCV000368697 RCV000394413 RCV000787013 RCV001590995 RCV002523218
NM_002473.6(MYH9):c.4955G>A (p.Arg1652His)	SNV Germline	Chr22:36286824	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10209226	rs_779135945	2 SubmittersRCV000283777 RCV000378271 RCV002524453
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His)	SNV Germline	Chr22:36289251	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10209369	rs_199968414	3 SubmittersRCV000308851 RCV000405444 RCV001355046
NM_002473.6(MYH9):c.3638C>G (p.Ala1213Gly)	SNV Germline	Chr22:36294291	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10653464	rs_886057481	2 SubmittersRCV000287071 RCV000381419 RCV002520043
NM_002473.6(MYH9):c.1899C>T (p.Pro633=)	SNV Germline	Chr22:36306552	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10210142	rs_749696998	3 SubmittersRCV000274977 RCV000327727 RCV003736735
NM_002473.6(MYH9):c.1578C>G (p.Ala526=)	SNV Germline	Chr22:36312199	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10210243	rs_201827299	3 SubmittersRCV000282266 RCV000374426 RCV002057802
NM_002473.6(MYH9):c.4345-11C>G	SNV Germline	Chr22:36289308	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10209378	rs_376040199	3 SubmittersRCV000264559 RCV000300978 RCV001566201
NM_002473.6(MYH9):c.1479G>A (p.Gln493=)	SNV Germline	Chr22:36314220	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10210276	rs_376262583	5 SubmittersRCV000312932 RCV000392545 RCV000726650
NM_002473.6(MYH9):c.1188G>A (p.Val396=)	SNV Germline	Chr22:36318246	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder	Criteria Provided Conflicting Classifications	CA10210358	rs_147972823	1 SubmittersRCV000306419 RCV000363389
NM_002473.6(MYH9):c.585G>A (p.Ala195=)	SNV Germline	Chr22:36326595	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10210586	rs_374395918	3 SubmittersRCV000263004 RCV000315837 RCV002523223
NM_002473.6(MYH9):c.318C>T (p.Tyr106=)	SNV Germline	Chr22:36348919	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10210686	rs_202117532	4 SubmittersRCV000287921 RCV000384622 RCV002520044
NM_002473.6(MYH9):c.233C>T (p.Pro78Leu)	SNV Germline	Chr22:36349004	Conflicting classifications of pathogenicity	Nonsyndromic Hearing Loss, Dominant MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10210700	rs_150313549	2 SubmittersRCV000345258 RCV000378918 RCV003765978
NM_002473.6(MYH9):c.122T>C (p.Phe41Ser)	SNV Germline	Chr22:36349115	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA16603232	rs_1057520107	3 SubmittersRCV000424167 RCV000790339
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser)	SNV Germline	Chr22:36306048	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications	CA10210100	rs_145241551	3 SubmittersRCV000425185 RCV001145336 RCV001145337
NM_002473.6(MYH9):c.5151-5C>T	SNV Germline	Chr22:36285786	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA10209134	rs_762613036	3 SubmittersRCV000595110 RCV004530702
NM_002473.6(MYH9):c.2907C>T (p.Thr969=)	SNV Germline	Chr22:36300196	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA10209820	rs_767461889	3 SubmittersRCV000593235 RCV004530708
NM_002473.6(MYH9):c.4332G>A (p.Lys1444=)	SNV Germline	Chr22:36291998	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA10209407	rs_758755198	3 SubmittersRCV000598601 RCV004543394
NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)	SNV Germline	Chr22:36349226	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10210742	rs_773960235	5 SubmittersRCV000613702 RCV001540673 RCV004527680 RCV004024891
NM_002473.6(MYH9):c.2691C>T (p.Ala897=)	SNV Germline	Chr22:36300998	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications	CA10209887	rs_148883810	3 SubmittersRCV000614144 RCV001151034 RCV001151033 RCV002531127
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)	SNV Germline	Chr22:36349205	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA10210738	rs_201415443	6 SubmittersRCV000613271 RCV001143858 RCV001143859 RCV002531129 RCV001573754
NM_002473.6(MYH9):c.3942+5G>A	SNV Germline	Chr22:36293754	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications	CA323591193	rs_775695035	3 SubmittersRCV001697411 RCV004530756
NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	SNV Unknown	Chr22:36292059	Likely pathogenic	10 conditions MYH9-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA323590385	rs_867593888	2 SubmittersRCV000626824 RCV000852126
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His)	SNV Germline	Chr22:36292028	Conflicting classifications of pathogenicity	MYH9-related disorder Condition: not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications		rs_143979758	3 SubmittersRCV000790345 RCV002533860 RCV002500987
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)	SNV Germline	Chr22:36301658	Conflicting classifications of pathogenicity	MYH9-related disorder Condition: not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Criteria Provided Conflicting Classifications		rs_1603483077	3 SubmittersRCV000790356 RCV001869038 RCV002249462
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	SNV Germline	Chr22:36305937	Pathogenic/Likely pathogenic	MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1184544985	8 SubmittersRCV000790355 RCV002245640 RCV002507333 RCV003117546
NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn)	SNV Unknown	Chr22:36318315	Likely pathogenic	MYH9-related disorder	Criteria Provided Single Submitter		rs_1603483388	1 SubmittersRCV000790353
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)	SNV Unknown	Chr22:36348954	Pathogenic/Likely pathogenic	MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Criteria Provided Multiple Submitters No Conflicts		rs_1603484047	2 SubmittersRCV000790351 RCV002222623
NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)	SNV Germline	Chr22:36349017	Likely pathogenic	MYH9-related disorder Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1603484048	3 SubmittersRCV000790349 RCV002245639 RCV003558559
NM_002473.6(MYH9):c.97T>G (p.Trp33Gly)	SNV Unknown	Chr22:36349140	Likely pathogenic	MYH9-related disorder	Criteria Provided Single Submitter		rs_1603484060	1 SubmittersRCV000790337
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)	SNV Germline	Chr22:36285941	Conflicting classifications of pathogenicity	Macrothrombocytopenia MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Condition: not provided	Criteria Provided Conflicting Classifications		rs_767426084	5 SubmittersRCV000851808 RCV001150616 RCV001150617 RCV002245650 RCV001855731
NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly)	SNV Germline	Chr22:36291990	Conflicting classifications of pathogenicity	MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_797044804	2 SubmittersRCV000851788 RCV001855730
NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser)	SNV Unknown	Chr22:36305985	Likely pathogenic	MYH9-related disorder	Criteria Provided Single Submitter		rs_80338826	1 SubmittersRCV000851737
NM_002473.6(MYH9):c.99G>C (p.Trp33Cys)	SNV Germline	Chr22:36349138	Pathogenic	MYH9-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1603484059	2 SubmittersRCV000852253 RCV002533978
NM_002473.6(MYH9):c.5483+4C>T	SNV Germline	Chr22:36285117	Conflicting classifications of pathogenicity	not specified MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_56327920	3 SubmittersRCV000825783 RCV004538141 RCV003727828
NM_002473.6(MYH9):c.1728+7A>G	SNV Germline	Chr22:36312042	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications		rs_201942027	2 SubmittersRCV000917380 RCV001148193 RCV001148192
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)	SNV Germline	Chr22:36284187	Conflicting classifications of pathogenicity	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications		rs_748946434	4 SubmittersRCV001029915 RCV001144414 RCV001144413 RCV001352047
NM_002473.6(MYH9):c.*195T>C	SNV Germline	Chr22:36282473	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder	Criteria Provided Conflicting Classifications		rs_771229879	1 SubmittersRCV001150390 RCV001150391
NM_002473.6(MYH9):c.*13G>A	SNV Germline	Chr22:36282655	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications		rs_750071451	1 SubmittersRCV001146181 RCV001146182
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)	SNV Germline	Chr22:36282673	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Nephrotic syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_149560153	4 SubmittersRCV001148986 RCV001148985 RCV001328210 RCV002282464
NM_002473.6(MYH9):c.5787C>T (p.Val1929=)	SNV Germline	Chr22:36282764	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_367698156	5 SubmittersRCV001150497 RCV001150496 RCV001819856 RCV002557241
NM_002473.6(MYH9):c.5769C>T (p.Arg1923=)	SNV Germline	Chr22:36282782	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications		rs_370834297	2 SubmittersRCV001150499 RCV001150498 RCV003433041
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)	SNV Germline	Chr22:36285226	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided not specified Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Criteria Provided Conflicting Classifications		rs_141440715	6 SubmittersRCV001149111 RCV001149112 RCV001593293 RCV003331054 RCV003444778
NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln)	SNV Germline	Chr22:36285907	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Inborn genetic diseases Condition: not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Criteria Provided Conflicting Classifications		rs_754714910	4 SubmittersRCV001150615 RCV001150614 RCV002559454 RCV002559453 RCV003339517
NM_002473.6(MYH9):c.4902C>T (p.Asp1634=)	SNV Germline	Chr22:36288282	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_146184921	6 SubmittersRCV001146453 RCV001146454 RCV001572213
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)	SNV Germline	Chr22:36288367	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder not specified Proteinuria Condition: not provided	Criteria Provided Conflicting Classifications		rs_145319741	5 SubmittersRCV001150731 RCV001150732 RCV001819858 RCV002284214 RCV003442215
NM_002473.6(MYH9):c.4077C>T (p.Ile1359=)	SNV Germline	Chr22:36293347	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_199693307	2 SubmittersRCV001144720 RCV001144721 RCV002557090
NM_002473.6(MYH9):c.3852C>T (p.Asn1284=)	SNV Germline	Chr22:36293849	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_200272787	2 SubmittersRCV001146689 RCV001146690 RCV002070779
NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys)	SNV Germline	Chr22:36294190	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications		rs_750911335	1 SubmittersRCV001147596 RCV001147597
NM_002473.6(MYH9):c.3453G>A (p.Thr1151=)	SNV Germline	Chr22:36295537	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Condition: not provided	Criteria Provided Conflicting Classifications		rs_574230328	3 SubmittersRCV001144827 RCV001144828 RCV002557096
NM_002473.6(MYH9):c.2607G>A (p.Thr869=)	SNV Germline	Chr22:36301558	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder	Criteria Provided Conflicting Classifications		rs_751880371	1 SubmittersRCV001144933 RCV001144934
NM_002473.6(MYH9):c.2442G>A (p.Arg814=)	SNV Germline	Chr22:36302625	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_113783861	2 SubmittersRCV001147793 RCV001147792 RCV003769708
NM_002473.6(MYH9):c.552C>T (p.Thr184=)	SNV Germline	Chr22:36326628	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_764398831	2 SubmittersRCV001145642 RCV001145643 RCV003708578
NM_002473.6(MYH9):c.2977-10C>T	SNV Germline	Chr22:36299052	Conflicting classifications of pathogenicity	MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17	Criteria Provided Conflicting Classifications		rs_188843586	2 SubmittersRCV001151031 RCV001151032
NM_002473.6(MYH9):c.2500-9C>T	SNV Germline	Chr22:36301674	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss Condition: not provided	Criteria Provided Conflicting Classifications		rs_1364784964	3 SubmittersRCV001146886 RCV001146885 RCV002480541 RCV003660857
NM_002473.6(MYH9):c.1729-5G>A	SNV Germline	Chr22:36309401	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_770021950	2 SubmittersRCV001147292 RCV001147293 RCV002070787
NM_002473.6(MYH9):c.333+14G>A	SNV Germline	Chr22:36348890	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 17 MYH9-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_768688000	2 SubmittersRCV001148411 RCV001148410 RCV002557179
NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)	SNV Germline	Chr22:36282763	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications		rs_142565774	3 SubmittersRCV001566000 RCV004536194
NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)	SNV Germline	Chr22:36293863	Conflicting classifications of pathogenicity	Condition: not provided Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder	Criteria Provided Conflicting Classifications		rs_141582478	5 SubmittersRCV001590391 RCV003388031 RCV004536228
NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)	SNV Germline	Chr22:36282700	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases MYH9-related disorder	Criteria Provided Conflicting Classifications		rs_775685559	4 SubmittersRCV001752248 RCV003346670 RCV004536283
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)	SNV Germline	Chr22:36318233	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 17 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MYH9-related disorder	Criteria Provided Conflicting Classifications		rs_369581570	3 SubmittersRCV001901743 RCV002490223 RCV004538603
NM_002473.6(MYH9):c.2591C>T (p.Ala864Val)	SNV Germline	Chr22:36301574	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases MYH9-related disorder	Criteria Provided Conflicting Classifications		rs_142467329	5 SubmittersRCV002120250 RCV004046304 RCV004531399
NM_002473.6(MYH9):c.2976+9C>T	SNV Germline	Chr22:36300118	Conflicting classifications of pathogenicity	not specified Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV002283429 RCV003096364 RCV004545278
NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp)	SNV Germline	Chr22:36302663	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002966075 RCV004536482
NM_002473.6(MYH9):c.5765+4A>G	SNV Germline	Chr22:36284089	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003553042 RCV004536839
NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile)	SNV Germline	Chr22:36284147	Conflicting classifications of pathogenicity	Condition: not provided MYH9-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003871751 RCV004542312

NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)

SNV
Germline

Chr22:36282754

Pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Condition: not provided
Abnormal bleeding
Thrombocytopenia
MYH9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257082

rs_80338835

14 SubmittersRCV000015116 RCV001092002 RCV001270545 RCV000790363

NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)

SNV
Germline

Chr22:36284474

Pathogenic/Likely pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Multiple Submitters
No Conflicts

CA257085

rs_80338834

10 SubmittersRCV000015119 RCV000790361 RCV001310800 RCV002466403

NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)

SNV
Germline

Chr22:36295069

Pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Condition: not provided
Thrombocytopenia
Abnormal bleeding
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Multiple Submitters
No Conflicts

CA257087

rs_80338829

15 SubmittersRCV000015121 RCV000790357 RCV001092004 RCV001270614 RCV001542710

NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)

SNV
Germline

Chr22:36348958

Pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257089

rs_121913655

4 SubmittersRCV000015122 RCV000790350

NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)

SNV
Germline

Chr22:36305985

Pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Condition: not provided
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Multiple Submitters
No Conflicts

CA257095

rs_80338826

14 SubmittersRCV000015129 RCV000523446 RCV000790354 RCV002490369 RCV003147289

NM_002473.6(MYH9):c.2105G>A (p.Arg702His)

SNV
Germline

Chr22:36305984

Pathogenic/Likely pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257101

rs_80338827

8 SubmittersRCV000015132 RCV000851738 RCV001851865

NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)

SNV
Germline

Chr22:36292060

Pathogenic/Likely pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Thrombocytopenia
Autosomal dominant nonsyndromic hearing loss 17
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA123739

rs_80338831

13 SubmittersRCV000015134 RCV000790358 RCV001271110 RCV002496364 RCV002466404 RCV002513058

NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)

SNV
Germline

Chr22:36348950

Pathogenic/Likely pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA257103

rs_121913657

11 SubmittersRCV000015138 RCV000790352 RCV000477821 RCV001537286

NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)

SNV
Germline

Chr22:36292060

Pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA343280

rs_80338831

4 SubmittersRCV000032224 RCV000790359 RCV002513293

NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)

SNV
Germline

Chr22:36296923

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA134523

rs_144807538

9 SubmittersRCV000037554 RCV000281034 RCV000375503 RCV000725348

NM_002473.6(MYH9):c.5151-4G>A

SNV
Germline

Chr22:36285785

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA134555

rs_368125656

6 SubmittersRCV000037566 RCV000724182 RCV004534794

NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp)

SNV
Germline

Chr22:36285908

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA184333

rs_569541375

4 SubmittersRCV000156181 RCV001785481 RCV004544449

NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)

SNV
Germline

Chr22:36286753

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Hearing impairment

Criteria Provided
Conflicting Classifications

CA177069

rs_138158369

8 SubmittersRCV000151322 RCV000416222 RCV001150618 RCV001150619 RCV001375382

NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)

SNV
Germline

Chr22:36288306

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182318

rs_143947828

8 SubmittersRCV000155179 RCV000406494 RCV000314016 RCV000724778

NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys)

SNV
Germline

Chr22:36292033

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA177096

rs_727503286

3 SubmittersRCV000151332 RCV000276612 RCV000331644 RCV001850062

NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)

SNV
Germline

Chr22:36295650

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Criteria Provided
Conflicting Classifications

CA177103

rs_200901330

8 SubmittersRCV000151335 RCV000268989 RCV000363597 RCV000767070 RCV000990431

NM_002473.6(MYH9):c.1491C>T (p.Ile497=)

SNV
Germline

Chr22:36314208

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA177138

rs_146487404

5 SubmittersRCV000151349 RCV000727283 RCV004532679

NM_002473.6(MYH9):c.591G>A (p.Ser197=)

SNV
Germline

Chr22:36326589

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA177154

rs_140241271

5 SubmittersRCV000151355 RCV000725037 RCV004532681

NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)

SNV
Germline

Chr22:36289086

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA177078

rs_138193963

6 SubmittersRCV000151325 RCV000727282 RCV002483309 RCV004532678

NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)

SNV
Germline

Chr22:36289246

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA177087

rs_139134727

11 SubmittersRCV000151329 RCV000293752 RCV000348717 RCV000726552

NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)

SNV
Germline

Chr22:36292105

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA177099

rs_34292387

7 SubmittersRCV000151333 RCV000386272 RCV000291994 RCV000724779 RCV004567172

NM_002473.6(MYH9):c.3943-7C>A

SNV
Germline

Chr22:36293488

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA182324

rs_376396278

4 SubmittersRCV000155181 RCV001731400 RCV004534986

NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)

SNV
Germline

Chr22:36300231

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Criteria Provided
Conflicting Classifications

CA177111

rs_151036570

8 SubmittersRCV000151338 RCV000293055 RCV000387348 RCV000726812 RCV002243824

NM_002473.6(MYH9):c.491-7G>A

SNV
Germline

Chr22:36327495

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA177160

rs_200059134

3 SubmittersRCV000151357 RCV002055991 RCV004532682

NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val)

SNV
Germline

Chr22:36291990

Likely pathogenic

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder

Criteria Provided
Single Submitter

CA347309

rs_797044804

2 SubmittersRCV000192270 RCV000790360

NM_002473.6(MYH9):c.*8C>T

SNV
Germline

Chr22:36282660

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10208880

rs_201455315

4 SubmittersRCV000215226 RCV000310238 RCV000367215 RCV001589132

NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met)

SNV
Germline

Chr22:36292083

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209422

rs_758626716

4 SubmittersRCV000216020 RCV001150836 RCV001150837 RCV001555721

NM_002473.6(MYH9):c.3561C>A (p.Ile1187=)

SNV
Germline

Chr22:36295001

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA10577137

rs_876657520

2 SubmittersRCV000221175 RCV000278106 RCV000392722

NM_002473.6(MYH9):c.1890C>T (p.Thr630=)

SNV
Germline

Chr22:36306561

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210145

rs_762239398

4 SubmittersRCV000213996 RCV001147291 RCV001147290 RCV002517482

NM_002473.6(MYH9):c.1722C>T (p.Ala574=)

SNV
Germline

Chr22:36312055

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210228

rs_373381680

4 SubmittersRCV000220323 RCV001148194 RCV001148195 RCV002519609

NM_002473.6(MYH9):c.519-6T>G

SNV
Germline

Chr22:36326667

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577139

rs_867195616

4 SubmittersRCV000220999 RCV001145644 RCV001145645 RCV001589133

NM_002473.6(MYH9):c.5766-5C>T

SNV
Germline

Chr22:36282790

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

CA10208911

rs_746967490

4 SubmittersRCV000248551 RCV000924999 RCV001150500 RCV001150501

NM_002473.6(MYH9):c.2205C>T (p.Asp735=)

SNV
Germline

Chr22:36305057

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210054

rs_370860479

3 SubmittersRCV000242446 RCV000296989 RCV000402946 RCV003765517

NM_002473.6(MYH9):c.1344C>T (p.Ile448=)

SNV
Germline

Chr22:36316553

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210303

rs_150125254

4 SubmittersRCV000253361 RCV000403087 RCV000365289 RCV001589255

NM_002473.6(MYH9):c.543G>A (p.Thr181=)

SNV
Germline

Chr22:36326637

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210593

rs_146514663

3 SubmittersRCV000252678 RCV000275864 RCV000354263 RCV000963405

NM_002473.6(MYH9):c.3213C>T (p.Ile1071=)

SNV
Germline

Chr22:36296902

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA10209727

rs_552133535

3 SubmittersRCV000334598 RCV004543097

NM_002473.6(MYH9):c.1566G>A (p.Pro522=)

SNV
Germline

Chr22:36312211

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA10210244

rs_145517108

5 SubmittersRCV000311142 RCV000726041 RCV004535390

NM_002473.6(MYH9):c.4818G>A (p.Ser1606=)

SNV
Germline

Chr22:36288366

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
not specified
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209279

rs_202132383

5 SubmittersRCV000266596 RCV000350880 RCV000361326 RCV000726429

NM_002473.6(MYH9):c.*474C>T

SNV
Germline

Chr22:36282194

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10645439

rs_55979529

2 SubmittersRCV000297726 RCV000336344 RCV003437086

NM_002473.6(MYH9):c.5717C>T (p.Thr1906Met)

SNV
Germline

Chr22:36284141

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10208952

rs_149663189

2 SubmittersRCV000343175 RCV000392449 RCV003727702

NM_002473.6(MYH9):c.4348C>T (p.Leu1450=)

SNV
Germline

Chr22:36289294

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209376

rs_764948348

2 SubmittersRCV000304641 RCV000359415 RCV002523219

NM_002473.6(MYH9):c.4305C>T (p.Ser1435=)

SNV
Germline

Chr22:36292025

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

CA10209415

rs_768359816

1 SubmittersRCV000316358 RCV000389572

NM_002473.6(MYH9):c.3915G>A (p.Ala1305=)

SNV
Germline

Chr22:36293786

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209520

rs_183685723

3 SubmittersRCV000339937 RCV000403021 RCV000615651 RCV003727703

NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln)

SNV
Germline

Chr22:36294252

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209593

rs_200697030

3 SubmittersRCV000271817 RCV000326885 RCV002480197 RCV002523221

NM_002473.6(MYH9):c.1098C>T (p.Pro366=)

SNV
Germline

Chr22:36319550

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210390

rs_537679678

4 SubmittersRCV000296755 RCV000388514 RCV001570097

NM_002473.6(MYH9):c.132C>T (p.Ala44=)

SNV
Germline

Chr22:36349105

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210719

rs_138526426

3 SubmittersRCV000299680 RCV000407910 RCV000825781 RCV002524454

NM_002473.6(MYH9):c.5593-14G>A

SNV
Germline

Chr22:36284279

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10208981

rs_201676960

2 SubmittersRCV000289396 RCV000346764 RCV003765976

NM_002473.6(MYH9):c.4972C>T (p.Arg1658Cys)

SNV
Germline

Chr22:36286807

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

CA10209219

rs_143972348

1 SubmittersRCV000287421 RCV000323686

NM_002473.6(MYH9):c.4830C>T (p.Ala1610=)

SNV
Germline

Chr22:36288354

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209277

rs_751904301

3 SubmittersRCV000270577 RCV000307029 RCV003765977

NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln)

SNV
Germline

Chr22:36293399

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209485

rs_758159686

4 SubmittersRCV000285049 RCV000408217 RCV000997915

NM_002473.6(MYH9):c.3838-11G>A

SNV
Germline

Chr22:36293874

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209544

rs_754547754

2 SubmittersRCV000275172 RCV000369861 RCV002523220

NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)

SNV
Germline

Chr22:36295670

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10209689

rs_137924205

6 SubmittersRCV000324164 RCV000360226 RCV002057800 RCV001449723

NM_002473.6(MYH9):c.2598C>G (p.Asn866Lys)

SNV
Germline

Chr22:36301567

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10209927

rs_750718366

3 SubmittersRCV000262620 RCV000359728 RCV001753803 RCV002523222

NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn)

SNV
Germline

Chr22:36318284

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210363

rs_767088377

2 SubmittersRCV000319014 RCV000375903 RCV003727704

NM_002473.6(MYH9):c.*193C>T

SNV
Germline

Chr22:36282475

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

CA10653456

rs_181364853

1 SubmittersRCV000295275 RCV000352444

NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg)

SNV
Germline

Chr22:36285148

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10209055

rs_368440234

5 SubmittersRCV000368697 RCV000394413 RCV000787013 RCV001590995 RCV002523218

NM_002473.6(MYH9):c.4955G>A (p.Arg1652His)

SNV
Germline

Chr22:36286824

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209226

rs_779135945

2 SubmittersRCV000283777 RCV000378271 RCV002524453

NM_002473.6(MYH9):c.4391G>A (p.Arg1464His)

SNV
Germline

Chr22:36289251

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209369

rs_199968414

3 SubmittersRCV000308851 RCV000405444 RCV001355046

NM_002473.6(MYH9):c.3638C>G (p.Ala1213Gly)

SNV
Germline

Chr22:36294291

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10653464

rs_886057481

2 SubmittersRCV000287071 RCV000381419 RCV002520043

NM_002473.6(MYH9):c.1899C>T (p.Pro633=)

SNV
Germline

Chr22:36306552

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210142

rs_749696998

3 SubmittersRCV000274977 RCV000327727 RCV003736735

NM_002473.6(MYH9):c.1578C>G (p.Ala526=)

SNV
Germline

Chr22:36312199

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210243

rs_201827299

3 SubmittersRCV000282266 RCV000374426 RCV002057802

NM_002473.6(MYH9):c.4345-11C>G

SNV
Germline

Chr22:36289308

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209378

rs_376040199

3 SubmittersRCV000264559 RCV000300978 RCV001566201

NM_002473.6(MYH9):c.1479G>A (p.Gln493=)

SNV
Germline

Chr22:36314220

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210276

rs_376262583

5 SubmittersRCV000312932 RCV000392545 RCV000726650

NM_002473.6(MYH9):c.1188G>A (p.Val396=)

SNV
Germline

Chr22:36318246

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA10210358

rs_147972823

1 SubmittersRCV000306419 RCV000363389

NM_002473.6(MYH9):c.585G>A (p.Ala195=)

SNV
Germline

Chr22:36326595

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210586

rs_374395918

3 SubmittersRCV000263004 RCV000315837 RCV002523223

NM_002473.6(MYH9):c.318C>T (p.Tyr106=)

SNV
Germline

Chr22:36348919

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210686

rs_202117532

4 SubmittersRCV000287921 RCV000384622 RCV002520044

NM_002473.6(MYH9):c.233C>T (p.Pro78Leu)

SNV
Germline

Chr22:36349004

Conflicting classifications of pathogenicity

Nonsyndromic Hearing Loss, Dominant
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210700

rs_150313549

2 SubmittersRCV000345258 RCV000378918 RCV003765978

NM_002473.6(MYH9):c.122T>C (p.Phe41Ser)

SNV
Germline

Chr22:36349115

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA16603232

rs_1057520107

3 SubmittersRCV000424167 RCV000790339

NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser)

SNV
Germline

Chr22:36306048

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

CA10210100

rs_145241551

3 SubmittersRCV000425185 RCV001145336 RCV001145337

NM_002473.6(MYH9):c.5151-5C>T

SNV
Germline

Chr22:36285786

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA10209134

rs_762613036

3 SubmittersRCV000595110 RCV004530702

NM_002473.6(MYH9):c.2907C>T (p.Thr969=)

SNV
Germline

Chr22:36300196

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA10209820

rs_767461889

3 SubmittersRCV000593235 RCV004530708

NM_002473.6(MYH9):c.4332G>A (p.Lys1444=)

SNV
Germline

Chr22:36291998

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA10209407

rs_758755198

3 SubmittersRCV000598601 RCV004543394

NM_002473.6(MYH9):c.11A>G (p.Gln4Arg)

SNV
Germline

Chr22:36349226

Conflicting classifications of pathogenicity

not specified
Condition: not provided
MYH9-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10210742

rs_773960235

5 SubmittersRCV000613702 RCV001540673 RCV004527680 RCV004024891

NM_002473.6(MYH9):c.2691C>T (p.Ala897=)

SNV
Germline

Chr22:36300998

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10209887

rs_148883810

3 SubmittersRCV000614144 RCV001151034 RCV001151033 RCV002531127

NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)

SNV
Germline

Chr22:36349205

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10210738

rs_201415443

6 SubmittersRCV000613271 RCV001143858 RCV001143859 RCV002531129 RCV001573754

NM_002473.6(MYH9):c.3942+5G>A

SNV
Germline

Chr22:36293754

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

CA323591193

rs_775695035

3 SubmittersRCV001697411 RCV004530756

NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)

SNV
Unknown

Chr22:36292059

Likely pathogenic

10 conditions
MYH9-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA323590385

rs_867593888

2 SubmittersRCV000626824 RCV000852126

NM_002473.6(MYH9):c.4302G>C (p.Gln1434His)

SNV
Germline

Chr22:36292028

Conflicting classifications of pathogenicity

MYH9-related disorder
Condition: not provided
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

rs_143979758

3 SubmittersRCV000790345 RCV002533860 RCV002500987

NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)

SNV
Germline

Chr22:36301658

Conflicting classifications of pathogenicity

MYH9-related disorder
Condition: not provided
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Criteria Provided
Conflicting Classifications

rs_1603483077

3 SubmittersRCV000790356 RCV001869038 RCV002249462

NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)

SNV
Germline

Chr22:36305937

Pathogenic/Likely pathogenic

MYH9-related disorder
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1184544985

8 SubmittersRCV000790355 RCV002245640 RCV002507333 RCV003117546

NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn)

SNV
Unknown

Chr22:36318315

Likely pathogenic

MYH9-related disorder

Criteria Provided
Single Submitter

rs_1603483388

1 SubmittersRCV000790353

NM_002473.6(MYH9):c.283G>A (p.Ala95Thr)

SNV
Unknown

Chr22:36348954

Pathogenic/Likely pathogenic

MYH9-related disorder
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603484047

2 SubmittersRCV000790351 RCV002222623

NM_002473.6(MYH9):c.220A>G (p.Lys74Glu)

SNV
Germline

Chr22:36349017

Likely pathogenic

MYH9-related disorder
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603484048

3 SubmittersRCV000790349 RCV002245639 RCV003558559

NM_002473.6(MYH9):c.97T>G (p.Trp33Gly)

SNV
Unknown

Chr22:36349140

Likely pathogenic

MYH9-related disorder

Criteria Provided
Single Submitter

rs_1603484060

1 SubmittersRCV000790337

NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr)

SNV
Germline

Chr22:36285941

Conflicting classifications of pathogenicity

Macrothrombocytopenia
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767426084

5 SubmittersRCV000851808 RCV001150616 RCV001150617 RCV002245650 RCV001855731

NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly)

SNV
Germline

Chr22:36291990

Conflicting classifications of pathogenicity

MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_797044804

2 SubmittersRCV000851788 RCV001855730

NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser)

SNV
Unknown

Chr22:36305985

Likely pathogenic

MYH9-related disorder

Criteria Provided
Single Submitter

rs_80338826

1 SubmittersRCV000851737

NM_002473.6(MYH9):c.99G>C (p.Trp33Cys)

SNV
Germline

Chr22:36349138

Pathogenic

MYH9-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603484059

2 SubmittersRCV000852253 RCV002533978

NM_002473.6(MYH9):c.5483+4C>T

SNV
Germline

Chr22:36285117

Conflicting classifications of pathogenicity

not specified
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_56327920

3 SubmittersRCV000825783 RCV004538141 RCV003727828

NM_002473.6(MYH9):c.1728+7A>G

SNV
Germline

Chr22:36312042

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

rs_201942027

2 SubmittersRCV000917380 RCV001148193 RCV001148192

NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)

SNV
Germline

Chr22:36284187

Conflicting classifications of pathogenicity

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748946434

4 SubmittersRCV001029915 RCV001144414 RCV001144413 RCV001352047

NM_002473.6(MYH9):c.*195T>C

SNV
Germline

Chr22:36282473

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder

Criteria Provided
Conflicting Classifications

rs_771229879

1 SubmittersRCV001150390 RCV001150391

NM_002473.6(MYH9):c.*13G>A

SNV
Germline

Chr22:36282655

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

rs_750071451

1 SubmittersRCV001146181 RCV001146182

NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)

SNV
Germline

Chr22:36282673

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Nephrotic syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149560153

4 SubmittersRCV001148986 RCV001148985 RCV001328210 RCV002282464

NM_002473.6(MYH9):c.5787C>T (p.Val1929=)

SNV
Germline

Chr22:36282764

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_367698156

5 SubmittersRCV001150497 RCV001150496 RCV001819856 RCV002557241

NM_002473.6(MYH9):c.5769C>T (p.Arg1923=)

SNV
Germline

Chr22:36282782

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370834297

2 SubmittersRCV001150499 RCV001150498 RCV003433041

NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)

SNV
Germline

Chr22:36285226

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided
not specified
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Criteria Provided
Conflicting Classifications

rs_141440715

6 SubmittersRCV001149111 RCV001149112 RCV001593293 RCV003331054 RCV003444778

NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln)

SNV
Germline

Chr22:36285907

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Inborn genetic diseases
Condition: not provided
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Criteria Provided
Conflicting Classifications

rs_754714910

4 SubmittersRCV001150615 RCV001150614 RCV002559454 RCV002559453 RCV003339517

NM_002473.6(MYH9):c.4902C>T (p.Asp1634=)

SNV
Germline

Chr22:36288282

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146184921

6 SubmittersRCV001146453 RCV001146454 RCV001572213

NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)

SNV
Germline

Chr22:36288367

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
not specified
Proteinuria
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_145319741

5 SubmittersRCV001150731 RCV001150732 RCV001819858 RCV002284214 RCV003442215

NM_002473.6(MYH9):c.4077C>T (p.Ile1359=)

SNV
Germline

Chr22:36293347

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_199693307

2 SubmittersRCV001144720 RCV001144721 RCV002557090

NM_002473.6(MYH9):c.3852C>T (p.Asn1284=)

SNV
Germline

Chr22:36293849

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200272787

2 SubmittersRCV001146689 RCV001146690 RCV002070779

NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys)

SNV
Germline

Chr22:36294190

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

rs_750911335

1 SubmittersRCV001147596 RCV001147597

NM_002473.6(MYH9):c.3453G>A (p.Thr1151=)

SNV
Germline

Chr22:36295537

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_574230328

3 SubmittersRCV001144827 RCV001144828 RCV002557096

NM_002473.6(MYH9):c.2607G>A (p.Thr869=)

SNV
Germline

Chr22:36301558

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder

Criteria Provided
Conflicting Classifications

rs_751880371

1 SubmittersRCV001144933 RCV001144934

NM_002473.6(MYH9):c.2442G>A (p.Arg814=)

SNV
Germline

Chr22:36302625

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_113783861

2 SubmittersRCV001147793 RCV001147792 RCV003769708

NM_002473.6(MYH9):c.552C>T (p.Thr184=)

SNV
Germline

Chr22:36326628

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764398831

2 SubmittersRCV001145642 RCV001145643 RCV003708578

NM_002473.6(MYH9):c.2977-10C>T

SNV
Germline

Chr22:36299052

Conflicting classifications of pathogenicity

MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17

Criteria Provided
Conflicting Classifications

rs_188843586

2 SubmittersRCV001151031 RCV001151032

NM_002473.6(MYH9):c.2500-9C>T

SNV
Germline

Chr22:36301674

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1364784964

3 SubmittersRCV001146886 RCV001146885 RCV002480541 RCV003660857

NM_002473.6(MYH9):c.1729-5G>A

SNV
Germline

Chr22:36309401

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770021950

2 SubmittersRCV001147292 RCV001147293 RCV002070787

NM_002473.6(MYH9):c.333+14G>A

SNV
Germline

Chr22:36348890

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 17
MYH9-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768688000

2 SubmittersRCV001148411 RCV001148410 RCV002557179

NM_002473.6(MYH9):c.5788G>A (p.Val1930Met)

SNV
Germline

Chr22:36282763

Conflicting classifications of pathogenicity

Condition: not provided
MYH9-related disorder

Criteria Provided
Conflicting Classifications

rs_142565774

3 SubmittersRCV001566000 RCV004536194

NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)

SNV
Germline

Chr22:36293863

Conflicting classifications of pathogenicity

Condition: not provided
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder

Criteria Provided
Conflicting Classifications

rs_141582478

5 SubmittersRCV001590391 RCV003388031 RCV004536228

NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr)

SNV
Germline

Chr22:36282700

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
MYH9-related disorder

Criteria Provided
Conflicting Classifications

rs_775685559

4 SubmittersRCV001752248 RCV003346670 RCV004536283

NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)

SNV
Germline

Chr22:36318233

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 17
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder

Criteria Provided
Conflicting Classifications

rs_369581570

3 SubmittersRCV001901743 RCV002490223 RCV004538603

NM_002473.6(MYH9):c.2591C>T (p.Ala864Val)

SNV
Germline

Chr22:36301574

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
MYH9-related disorder

Criteria Provided
Conflicting Classifications

rs_142467329

5 SubmittersRCV002120250 RCV004046304 RCV004531399

NM_002473.6(MYH9):c.2976+9C>T