ClinVar for MedGen (Select 350942) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584578	NM_002473.6(MYH9):c.2161_2165del	MYH9	Deletion (splice acceptor variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GUncertain significance
Select item 2582540	NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys)	MYH9 (E1522K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GUncertain significance
Select item 1699004	NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys)	MYH9 (E1093K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17	GUncertain significance
Select item 1696936	NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)	LOC126863137, MYH9 (R905C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 1691816	NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys)	MYH9 (S1061C)	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1691804	NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)	MYH9 (K1585Q)	Single nucleotide variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 1684933	NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp)	MYH9 (R1751W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1678043	NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys)	MYH9 (E1225K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1677011	NM_002473.6(MYH9):c.504A>G (p.Gln168=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1659751	NM_002473.6(MYH9):c.3272+19C>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1655956	NM_002473.6(MYH9):c.4558-11C>G	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1647415	NM_002473.6(MYH9):c.868+14C>T	MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1636042	NM_002473.6(MYH9):c.5483+18C>T	MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1609184	NM_002473.6(MYH9):c.1518C>T (p.Leu506=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1593559	NM_002473.6(MYH9):c.2844T>G (p.Leu948=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 1580694	NM_002473.6(MYH9):c.4128T>C (p.Ser1376=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1567853	NM_002473.6(MYH9):c.4095+20C>T	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign/Likely benign
Select item 1553602	NM_002473.6(MYH9):c.2838+10C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1529014	NM_002473.6(MYH9):c.1012+20A>G	MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1524931	NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp)	MYH9 (R1633W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GUncertain significance
Select item 1519109	NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)	MYH9 (L1008V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 1481801	NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val)	MYH9 (L1562V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 1466883	NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys)	MYH9 (R755C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 1425680	NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met)	MYH9 (T1151M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1404635	NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)	MYH9 (V401I)	Single nucleotide variant (missense variant)	MYH9-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1380025	NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp)	MYH9 (R1725W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1370545	NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)	MYH9 (R1226L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 1361814	NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr)	MYH9 (H1772Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GUncertain significance
Select item 1361564	NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn)	MYH9 (D1293N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 1348422	NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu)	MYH9 (S1628L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1341864	NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr)	MYH9 (A1065T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GConflicting classifications of pathogenicity
Select item 1339049	NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu)	MYH9 (S1243L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 1310780	NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser)	MYH9 (G766S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GUncertain significance
Select item 1303195	NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val)	MYH9 (A1451V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GUncertain significance
Select item 1302213	NM_002473.6(MYH9):c.278A>G (p.Asn93Ser)	MYH9 (N93S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GUncertain significance
Select item 1223302	NM_002473.6(MYH9):c.2913G>A (p.Ala971=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign/Likely benign
Select item 1217938	NM_002473.6(MYH9):c.2115C>T (p.Arg705=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1215168	NM_002473.6(MYH9):c.1167C>T (p.Ile389=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1205631	NM_002473.6(MYH9):c.3677G>C (p.Arg1226Pro)	MYH9 (R1226P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1204293	NM_002473.6(MYH9):c.2838+19C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1200464	NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly)	MYH9 (A1360G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1197067	NM_002473.6(MYH9):c.3485+18G>C	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign/Likely benign
Select item 1194904	NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn)	MYH9 (D1273N)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 1192912	NM_002473.6(MYH9):c.5593-4G>A	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1120128	NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)	MYH9 (R1726H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 932921	NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg)	MYH9 (K1234R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 930156	NM_002473.6(MYH9):c.659C>T (p.Ala220Val)	MYH9 (A220V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GUncertain significance
Select item 903605	NM_002473.6(MYH9):c.2977-10C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 903480	NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly)	MYH9 (D1428G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 903428	NM_002473.6(MYH9):c.4728G>A (p.Arg1576=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 903427	NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu)	MYH9 (S1606L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 903365	NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln)	MYH9 (R1703Q)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 903290	NM_002473.6(MYH9):c.5769C>T (p.Arg1923=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 903289	NM_002473.6(MYH9):c.5787C>T (p.Val1929=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GConflicting classifications of pathogenicity
Select item 903228	NM_002473.6(MYH9):c.*195T>C	MYH9	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GConflicting classifications of pathogenicity
Select item 902998	NM_002473.6(MYH9):c.115A>G (p.Ser39Gly)	MYH9 (S39G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GUncertain significance
Select item 902938	NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser)	MYH9 (G350S)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902937	NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu)	MYH9 (D361E)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902875	NM_002473.6(MYH9):c.1555-15C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902874	NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr)	MYH9 (A519T)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902873	NM_002473.6(MYH9):c.1590G>A (p.Glu530=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902820	NM_002473.6(MYH9):c.2217G>C (p.Ala739=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +1 more	GBenign/Likely benign
Select item 902577	NM_002473.6(MYH9):c.4855C>T (p.Leu1619=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902510	NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val)	MYH9 (I1731V)	Single nucleotide variant (missense variant)	MYH9-related condition +2 more	GUncertain significance
Select item 902509	NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)	MYH9 (K1793R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 902430	NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys)	MYH9 (E1960K)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 902363	NM_002473.6(MYH9):c.*248C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902362	NM_002473.6(MYH9):c.*273C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902112	NM_002473.6(MYH9):c.333+14G>A	MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 902111	NM_002473.6(MYH9):c.445C>A (p.His149Asn)	MYH9 (H149N)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 902110	NM_002473.6(MYH9):c.448A>G (p.Ile150Val)	MYH9 (I150V)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 901722	NM_002473.6(MYH9):c.2442G>A (p.Arg814=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 901601	NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys)	MYH9 (R1247C)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 901482	NM_002473.6(MYH9):c.1273A>T (p.Met425Leu)	MYH9 (M425L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 901425	NM_002473.6(MYH9):c.1729-5G>A	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 901170	NM_002473.6(MYH9):c.2500-9C>T	MYH9	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 901046	NM_002473.6(MYH9):c.3852C>T (p.Asn1284=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 900977	NM_002473.6(MYH9):c.4466T>C (p.Met1489Thr)	MYH9 (M1489T)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 900909	NM_002473.6(MYH9):c.4902C>T (p.Asp1634=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related condition +3 more	GConflicting classifications of pathogenicity
Select item 900833	NM_002473.6(MYH9):c.5489G>A (p.Arg1830His)	MYH9 (R1830H)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 900752	NM_002473.6(MYH9):c.*13G>A	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 900751	NM_002473.6(MYH9):c.*73C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 900679	NM_002473.6(MYH9):c.*325C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GBenign/Likely benign
Select item 900503	NM_002473.6(MYH9):c.-86G>T	LOC112695089, MYH9	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 900445	NM_002473.6(MYH9):c.552C>T (p.Thr184=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900260	NM_002473.6(MYH9):c.2038-4C>G	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 900008	NM_002473.6(MYH9):c.2607G>A (p.Thr869=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 900007	NM_002473.6(MYH9):c.2653C>T (p.Leu885=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 899933	NM_002473.6(MYH9):c.3453G>A (p.Thr1151=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related condition +3 more	GConflicting classifications of pathogenicity
Select item 899867	NM_002473.6(MYH9):c.4077C>T (p.Ile1359=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899753	NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp)	MYH9 (E1653D)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 899543	NM_002473.6(MYH9):c.*639C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 899476	NM_002473.6(MYH9):c.*1330A>G	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 829957	NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr)	MYH9 (A1891T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GConflicting classifications of pathogenicity
Select item 809357	NM_002473.6(MYH9):c.4008C>T (p.Asp1336=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related condition +3 more	GBenign/Likely benign
Select item 798943	NM_002473.6(MYH9):c.1788C>T (p.Ile596=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 761447	NM_002473.6(MYH9):c.2230-9C>T	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 741241	NM_002473.6(MYH9):c.1728+7A>G	MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 737359	NM_002473.6(MYH9):c.5764A>C (p.Arg1922=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GLikely benign
Select item 734223	NM_002473.6(MYH9):c.4218C>T (p.Ala1406=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

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