ClinVar for MedGen (Select 344306) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9036051.	NM_002473.6(MYH9):c.2977-10C>T GRCh37: Chr22:36695098 GRCh38: Chr22:36299052	MYH9		Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 9034802.	NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly) GRCh37: Chr22:36688093 GRCh38: Chr22:36292047	MYH9	D1428G	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9034283.	NM_002473.6(MYH9):c.4728G>A (p.Arg1576=) GRCh37: Chr22:36684815 GRCh38: Chr22:36288769	MYH9		Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9034274.	NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) GRCh37: Chr22:36684413 GRCh38: Chr22:36288367	MYH9	S1606L	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not specified, not provided, Proteinuria	Conflicting interpretations of pathogenicity (Apr 14, 2023)	criteria provided, conflicting interpretations
Select item 9033655.	NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln) GRCh37: Chr22:36681953 GRCh38: Chr22:36285907	MYH9	R1703Q	MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 9032906.	NM_002473.6(MYH9):c.5769C>T (p.Arg1923=) GRCh37: Chr22:36678828 GRCh38: Chr22:36282782	MYH9		not provided, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 9032897.	NM_002473.6(MYH9):c.5787C>T (p.Val1929=) GRCh37: Chr22:36678810 GRCh38: Chr22:36282764	MYH9		not provided, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not specified	Conflicting interpretations of pathogenicity (Jul 1, 2023)	criteria provided, conflicting interpretations
Select item 9032288.	NM_002473.6(MYH9):c.*195T>C GRCh37: Chr22:36678519 GRCh38: Chr22:36282473	MYH9		Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Conflicting interpretations of pathogenicity (May 3, 2017)	criteria provided, conflicting interpretations
Select item 9029989.	NM_002473.6(MYH9):c.115A>G (p.Ser39Gly) GRCh37: Chr22:36745167 GRCh38: Chr22:36349122	MYH9	S39G	Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90293810.	NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser) GRCh37: Chr22:36715645 GRCh38: Chr22:36319600	MYH9	G350S	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90293711.	NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu) GRCh37: Chr22:36715610 GRCh38: Chr22:36319565	MYH9	D361E	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90287512.	NM_002473.6(MYH9):c.1555-15C>T GRCh37: Chr22:36708282 GRCh38: Chr22:36312237	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90287413.	NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr) GRCh37: Chr22:36708267 GRCh38: Chr22:36312222	MYH9	A519T	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90287314.	NM_002473.6(MYH9):c.1590G>A (p.Glu530=) GRCh37: Chr22:36708232 GRCh38: Chr22:36312187	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90282015.	NM_002473.6(MYH9):c.2217G>C (p.Ala739=) GRCh37: Chr22:36701091 GRCh38: Chr22:36305045	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90257716.	NM_002473.6(MYH9):c.4855C>T (p.Leu1619=) GRCh37: Chr22:36684375 GRCh38: Chr22:36288329	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 90251017.	NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val) GRCh37: Chr22:36681787 GRCh38: Chr22:36285741	MYH9	I1731V	MYH9-related condition, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90250918.	NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) GRCh37: Chr22:36681272 GRCh38: Chr22:36285226	MYH9	K1793R	not provided, MYH9-related disorder, not specified, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Aug 17, 2023)	criteria provided, conflicting interpretations
Select item 90243019.	NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) GRCh37: Chr22:36678719 GRCh38: Chr22:36282673	MYH9	E1960K	MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 10, 2023)	criteria provided, conflicting interpretations
Select item 90236320.	NM_002473.6(MYH9):c.*248C>T GRCh37: Chr22:36678466 GRCh38: Chr22:36282420	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90236221.	NM_002473.6(MYH9):c.*273C>T GRCh37: Chr22:36678441 GRCh38: Chr22:36282395	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90211222.	NM_002473.6(MYH9):c.333+14G>A GRCh37: Chr22:36744935 GRCh38: Chr22:36348890	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, not provided	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 90211123.	NM_002473.6(MYH9):c.445C>A (p.His149Asn) GRCh37: Chr22:36737460 GRCh38: Chr22:36341415	MYH9	H149N	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90211024.	NM_002473.6(MYH9):c.448A>G (p.Ile150Val) GRCh37: Chr22:36737457 GRCh38: Chr22:36341412	MYH9	I150V	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90172225.	NM_002473.6(MYH9):c.2442G>A (p.Arg814=) GRCh37: Chr22:36698671 GRCh38: Chr22:36302625	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90160126.	NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys) GRCh37: Chr22:36690236 GRCh38: Chr22:36294190	MYH9	R1247C	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90148227.	NM_002473.6(MYH9):c.1273A>T (p.Met425Leu) GRCh37: Chr22:36712669 GRCh38: Chr22:36316624	MYH9	M425L	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90142528.	NM_002473.6(MYH9):c.1729-5G>A GRCh37: Chr22:36705446 GRCh38: Chr22:36309401	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, not provided	Conflicting interpretations of pathogenicity (Oct 11, 2022)	criteria provided, conflicting interpretations
Select item 90117029.	NM_002473.6(MYH9):c.2500-9C>T GRCh37: Chr22:36697720 GRCh38: Chr22:36301674	MYH9		Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90104630.	NM_002473.6(MYH9):c.3852C>T (p.Asn1284=) GRCh37: Chr22:36689895 GRCh38: Chr22:36293849	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, not provided	Conflicting interpretations of pathogenicity (Mar 21, 2022)	criteria provided, conflicting interpretations
Select item 90097731.	NM_002473.6(MYH9):c.4466T>C (p.Met1489Thr) GRCh37: Chr22:36685222 GRCh38: Chr22:36289176	MYH9	M1489T	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90090932.	NM_002473.6(MYH9):c.4902C>T (p.Asp1634=) GRCh37: Chr22:36684328 GRCh38: Chr22:36288282	MYH9		MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jul 28, 2022)	criteria provided, conflicting interpretations
Select item 90083333.	NM_002473.6(MYH9):c.5489G>A (p.Arg1830His) GRCh37: Chr22:36680552 GRCh38: Chr22:36284506	MYH9	R1830H	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90075234.	NM_002473.6(MYH9):c.*13G>A GRCh37: Chr22:36678701 GRCh38: Chr22:36282655	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90075135.	NM_002473.6(MYH9):c.*73C>T GRCh37: Chr22:36678641 GRCh38: Chr22:36282595	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90067936.	NM_002473.6(MYH9):c.*325C>T GRCh37: Chr22:36678389 GRCh38: Chr22:36282343	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90050337.	NM_002473.6(MYH9):c.-86G>T GRCh37: Chr22:36783918 GRCh38: Chr22:36387873	LOC112695089, MYH9		Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90044538.	NM_002473.6(MYH9):c.552C>T (p.Thr184=) GRCh37: Chr22:36722673 GRCh38: Chr22:36326628	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90026039.	NM_002473.6(MYH9):c.2038-4C>G GRCh37: Chr22:36702101 GRCh38: Chr22:36306055	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90000840.	NM_002473.6(MYH9):c.2607G>A (p.Thr869=) GRCh37: Chr22:36697604 GRCh38: Chr22:36301558	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 90000741.	NM_002473.6(MYH9):c.2653C>T (p.Leu885=) GRCh37: Chr22:36697082 GRCh38: Chr22:36301036	LOC126863137, MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89993342.	NM_002473.6(MYH9):c.3453G>A (p.Thr1151=) GRCh37: Chr22:36691583 GRCh38: Chr22:36295537	MYH9		MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (May 25, 2022)	criteria provided, conflicting interpretations
Select item 89986743.	NM_002473.6(MYH9):c.4077C>T (p.Ile1359=) GRCh37: Chr22:36689393 GRCh38: Chr22:36293347	MYH9		MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Aug 12, 2022)	criteria provided, conflicting interpretations
Select item 89975344.	NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp) GRCh37: Chr22:36682866 GRCh38: Chr22:36286820	MYH9	E1653D	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89954345.	NM_002473.6(MYH9):c.*639C>T GRCh37: Chr22:36678075 GRCh38: Chr22:36282029	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89947646.	NM_002473.6(MYH9):c.*1330A>G GRCh37: Chr22:36677384 GRCh38: Chr22:36281338	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 82995747.	NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) GRCh37: Chr22:36680233 GRCh38: Chr22:36284187	MYH9	A1891T	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, not provided	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 74124148.	NM_002473.6(MYH9):c.1728+7A>G GRCh37: Chr22:36708087 GRCh38: Chr22:36312042	MYH9		Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided	Conflicting interpretations of pathogenicity (Apr 12, 2018)	criteria provided, conflicting interpretations
Select item 68448649.	NM_002473.6(MYH9):c.2290C>T (p.Arg764Cys) GRCh37: Chr22:36700141 GRCh38: Chr22:36304095	MYH9	R764C	MYH9-related disorder	not provided	no assertion provided
Select item 63189350.	NM_002473.6(MYH9):c.5050C>T (p.Gln1684Ter) GRCh37: Chr22:36682775 GRCh38: Chr22:36286729	MYH9	Q1684*	MYH9-related disorder	Uncertain significance (Aug 17, 2018)	criteria provided, single submitter
Select item 62740951.	NM_002473.6(MYH9):c.99G>C (p.Trp33Cys) GRCh37: Chr22:36745183 GRCh38: Chr22:36349138	MYH9	W33C	MYH9-related disorder, not provided	Pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62731152.	NM_002473.6(MYH9):c.4529T>G (p.Met1510Arg) GRCh37: Chr22:36685159 GRCh38: Chr22:36289113	MYH9	M1510R	MYH9-related disorder	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 62708353.	NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) GRCh37: Chr22:36681987 GRCh38: Chr22:36285941	MYH9	A1692T	MYH9-related condition, Macrothrombocytopenia, MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Dec 20, 2022)	criteria provided, conflicting interpretations
Select item 62706754.	NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly) GRCh37: Chr22:36688036 GRCh38: Chr22:36291990	MYH9	D1447G	MYH9-related disorder, not provided	Conflicting interpretations of pathogenicity (Aug 31, 2021)	criteria provided, conflicting interpretations
Select item 62703555.	NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser) GRCh37: Chr22:36702031 GRCh38: Chr22:36305985	MYH9	R702S	MYH9-related disorder	Likely pathogenic (Feb 1, 2019)	criteria provided, single submitter
Select item 62311156.	NM_002473.6(MYH9):c.5800del (p.Met1934fs) GRCh37: Chr22:36678797 GRCh38: Chr22:36282751	MYH9	M1934fs	MYH9-related disorder	Likely pathogenic (Dec 12, 2018)	criteria provided, single submitter
Select item 62311057.	NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs) GRCh37: Chr22:36678818-36678827 GRCh38: Chr22:36282772-36282781	MYH9	G1924fs	MYH9-related disorder	Pathogenic (Dec 12, 2018)	criteria provided, single submitter
Select item 62310958.	NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) GRCh37: Chr22:36697704 GRCh38: Chr22:36301658	MYH9	P836L	not provided, MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 62310859.	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) GRCh37: Chr22:36701983 GRCh38: Chr22:36305937	MYH9	R718W	Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, not provided, MYH9-related disorder	Pathogenic/Likely pathogenic (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62310760.	NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn) GRCh37: Chr22:36714360 GRCh38: Chr22:36318315	MYH9	K373N	MYH9-related disorder	Likely pathogenic (Dec 12, 2018)	criteria provided, single submitter
Select item 62310661.	NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) GRCh37: Chr22:36744999 GRCh38: Chr22:36348954	MYH9	A95T	MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Pathogenic/Likely pathogenic (Dec 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 62310562.	NM_002473.6(MYH9):c.220A>G (p.Lys74Glu) GRCh37: Chr22:36745062 GRCh38: Chr22:36349017	MYH9	K74E	MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Likely pathogenic (Dec 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 62310463.	NM_002473.6(MYH9):c.5808del (p.Gly1938fs) GRCh37: Chr22:36678789 GRCh38: Chr22:36282743	MYH9	G1938fs	MYH9-related disorder	Likely pathogenic (Dec 12, 2018)	criteria provided, single submitter
Select item 62310364.	NM_002473.6(MYH9):c.5032A>G (p.Met1678Val) GRCh37: Chr22:36682793 GRCh38: Chr22:36286747	MYH9	M1678V	MYH9-related disorder	Uncertain significance (Dec 12, 2018)	criteria provided, single submitter
Select item 62310265.	NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly) GRCh37: Chr22:36682879 GRCh38: Chr22:36286833	MYH9	D1649G	MYH9-related disorder, Thrombocytopenia	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 62310166.	NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) GRCh37: Chr22:36688074 GRCh38: Chr22:36292028	MYH9	Q1434H	Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, not provided, MYH9-related disorder	Conflicting interpretations of pathogenicity (Feb 25, 2022)	criteria provided, conflicting interpretations
Select item 62310067.	NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala) GRCh37: Chr22:36688114 GRCh38: Chr22:36292068	MYH9	E1421A	Macrothrombocytopenia, MYH9-related disorder	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 62309968.	NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu) GRCh37: Chr22:36691024 GRCh38: Chr22:36294978	MYH9	S1195L	MYH9-related disorder	Uncertain significance (Dec 12, 2018)	criteria provided, single submitter
Select item 62309869.	NM_002473.6(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup) GRCh37: Chr22:36692938-36692939 GRCh38: Chr22:36296892-36296893	MYH9		MYH9-related disorder	Uncertain significance (Dec 12, 2018)	criteria provided, single submitter
Select item 62309770.	NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys) GRCh37: Chr22:36696974 GRCh38: Chr22:36300928	LOC126863137, MYH9	E921K	MYH9-related disorder, Thrombocytopenia	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 62309671.	NM_002473.6(MYH9):c.2668del (p.Gln890fs) GRCh37: Chr22:36697067 GRCh38: Chr22:36301021	LOC126863137, MYH9	Q890fs	MYH9-related disorder	Likely pathogenic (Dec 12, 2018)	criteria provided, single submitter
Select item 62309572.	NM_002473.6(MYH9):c.108_116del (p.Asp37_Ser39del) GRCh37: Chr22:36745166-36745174 GRCh38: Chr22:36349121-36349129	MYH9		MYH9-related disorder	Uncertain significance (Dec 12, 2018)	criteria provided, single submitter
Select item 62309473.	NM_002473.6(MYH9):c.97T>G (p.Trp33Gly) GRCh37: Chr22:36745185 GRCh38: Chr22:36349140	MYH9	W33G	MYH9-related disorder	Likely pathogenic (Dec 12, 2018)	criteria provided, single submitter
Select item 52345374.	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) GRCh37: Chr22:36688105 GRCh38: Chr22:36292059	MYH9	D1424G	Numerous pigmented freckles, Abnormal platelet shape, Obesity, Hypertensive disorder, Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology, Increased mean platelet volume, Epistaxis, Abnormal facial shape, MYH9-related disorder ...see more	Likely pathogenic (Feb 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 50462775.	NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) GRCh37: Chr22:36745250 GRCh38: Chr22:36349205	MYH9	Y11C	MYH9-related disorder, Inborn genetic diseases, not specified, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Oct 4, 2022)	criteria provided, conflicting interpretations
Select item 50462576.	NM_002473.6(MYH9):c.2691C>T (p.Ala897=) GRCh37: Chr22:36697044 GRCh38: Chr22:36300998	MYH9, LOC126863137		MYH9-related disorder, not provided, not specified, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (May 24, 2022)	criteria provided, conflicting interpretations
Select item 37821677.	NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) GRCh37: Chr22:36702094 GRCh38: Chr22:36306048	MYH9	G681S	not provided, MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 37701778.	NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) GRCh37: Chr22:36745160 GRCh38: Chr22:36349115	MYH9	F41S	MYH9-related disorder, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 36937879.	NM_002473.5(MYH9):c.*1394C>T GRCh37: Chr22:36677320 GRCh38: Chr22:36281274	MYH9		Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36937780.	NM_002473.5(MYH9):c.*1399C>T GRCh37: Chr22:36677315 GRCh38: Chr22:36281269	MYH9		Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34154281.	NM_002473.5(MYH9):c.-201G>A GRCh37: Chr22:36784033 GRCh38: Chr22:36387988	LOC112695089, MYH9		Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34154182.	NM_002473.5(MYH9):c.-182G>T GRCh37: Chr22:36784014 GRCh38: Chr22:36387969	LOC112695089, MYH9		Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34154083.	NM_002473.6(MYH9):c.-163C>G GRCh37: Chr22:36783995 GRCh38: Chr22:36387950	LOC112695089, MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34153984.	NM_002473.6(MYH9):c.-153C>T GRCh37: Chr22:36783985 GRCh38: Chr22:36387940	MYH9, LOC112695089		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34153885.	NM_002473.6(MYH9):c.-19-7C>T GRCh37: Chr22:36745307 GRCh38: Chr22:36349262	MYH9		Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided	Benign/Likely benign (Apr 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34153786.	NM_002473.6(MYH9):c.132C>T (p.Ala44=) GRCh37: Chr22:36745150 GRCh38: Chr22:36349105	MYH9		not specified, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 34153687.	NM_002473.6(MYH9):c.233C>T (p.Pro78Leu) GRCh37: Chr22:36745049 GRCh38: Chr22:36349004	MYH9	P78L	MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 34153588.	NM_002473.6(MYH9):c.318C>T (p.Tyr106=) GRCh37: Chr22:36744964 GRCh38: Chr22:36348919	MYH9		not provided, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Conflicting interpretations of pathogenicity (May 8, 2023)	criteria provided, conflicting interpretations
Select item 34153489.	NM_002473.6(MYH9):c.420C>T (p.Gly140=) GRCh37: Chr22:36737485 GRCh38: Chr22:36341440	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34153390.	NM_002473.6(MYH9):c.519-10del GRCh37: Chr22:36722716 GRCh38: Chr22:36326671	MYH9		MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34153291.	NM_002473.6(MYH9):c.585G>A (p.Ala195=) GRCh37: Chr22:36722640 GRCh38: Chr22:36326595	MYH9		MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 34153192.	NM_002473.6(MYH9):c.933C>T (p.Pro311=) GRCh37: Chr22:36716344 GRCh38: Chr22:36320299	MYH9		MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Benign/Likely benign (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34153093.	NM_002473.6(MYH9):c.1098C>T (p.Pro366=) GRCh37: Chr22:36715595 GRCh38: Chr22:36319550	MYH9		MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 34152994.	NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn) GRCh37: Chr22:36714329 GRCh38: Chr22:36318284	MYH9	D384N	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34152895.	NM_002473.6(MYH9):c.1188G>A (p.Val396=) GRCh37: Chr22:36714291 GRCh38: Chr22:36318246	MYH9		MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 34152796.	NM_002473.6(MYH9):c.1479G>A (p.Gln493=) GRCh37: Chr22:36710265 GRCh38: Chr22:36314220	MYH9		not provided, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Conflicting interpretations of pathogenicity (Jun 16, 2022)	criteria provided, conflicting interpretations
Select item 34152697.	NM_002473.6(MYH9):c.1539C>A (p.Asp513Glu) GRCh37: Chr22:36710205 GRCh38: Chr22:36314160	MYH9	D513E	MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34152598.	NM_002473.6(MYH9):c.1578C>G (p.Ala526=) GRCh37: Chr22:36708244 GRCh38: Chr22:36312199	MYH9		MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 34152499.	NM_002473.6(MYH9):c.1899C>T (p.Pro633=) GRCh37: Chr22:36702598 GRCh38: Chr22:36306552	MYH9		Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 341523100.	NM_002473.6(MYH9):c.2226C>T (p.Leu742=) GRCh37: Chr22:36701082 GRCh38: Chr22:36305036	MYH9		MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

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