ClinVar for MedGen (Select 1704278) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376422	NM_002473.6(MYH9):c.1879A>G (p.Met627Val)	MYH9 (M627V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3257732	NM_002473.6(MYH9):c.264G>T (p.Glu88Asp)	MYH9 (E88D)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3256668	NM_002473.6(MYH9):c.5596G>T (p.Asp1866Tyr)	MYH9 (D1866Y)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3256641	NM_002473.6(MYH9):c.3630G>A (p.Arg1210=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3236181	NM_002473.6(MYH9):c.3058A>G (p.Lys1020Glu)	MYH9 (K1020E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3236144	NM_002473.6(MYH9):c.2151_2152delinsCG (p.Arg718Gly)	MYH9 (R718G)	Indel (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3236027	NM_002473.6(MYH9):c.362T>G (p.Ile121Ser)	MYH9 (I121S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3235997	NM_002473.6(MYH9):c.1543A>C (p.Ile515Leu)	MYH9 (I515L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3235974	NM_002473.6(MYH9):c.2545_2565dup (p.Val855_Lys856insAlaLysGluGluGluLeuVal)	MYH9	Duplication (inframe_insertion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3235196	NM_002473.6(MYH9):c.1271G>T (p.Arg424Leu)	MYH9 (R424L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3234040	NM_002473.6(MYH9):c.4595A>G (p.Gln1532Arg)	MYH9 (Q1532R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3068601	NM_002473.6(MYH9):c.4400C>T (p.Ala1467Val)	MYH9 (A1467V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3068416	NM_002473.6(MYH9):c.518+5G>A	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3068367	NM_002473.6(MYH9):c.4271A>C (p.Asp1424Ala)	MYH9 (D1424A)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GPathogenic
Select item 3068365	NM_002473.6(MYH9):c.718C>T (p.Arg240Cys)	MYH9 (R240C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3066225	NM_002473.6(MYH9):c.364A>G (p.Asn122Asp)	MYH9 (N122D)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 3065448	NM_002473.6(MYH9):c.2206G>A (p.Gly736Arg)	MYH9 (G736R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3061861	NM_002473.6(MYH9):c.300C>A (p.Asn100Lys)	MYH9 (N100K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2692305	NM_002473.6(MYH9):c.4009G>C (p.Glu1337Gln)	MYH9 (E1337Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2683941	NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)	MYH9 (K395T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 2664919	NM_002473.6(MYH9):c.5745C>G (p.Ser1915Arg)	MYH9 (S1915R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2664783	NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del)	MYH9 (E1453del)	Microsatellite (inframe_deletion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 2627059	NM_002473.6(MYH9):c.3244GAG[2] (p.Glu1084del)	MYH9 (E1084del)	Microsatellite (inframe_deletion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
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 2572093	NM_002473.6(MYH9):c.4691C>T (p.Ala1564Val)	MYH9 (A1564V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2500720	NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)	LOC126863137, MYH9 (E894K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GLikely pathogenic
Select item 2444181	NM_002473.6(MYH9):c.2548A>G (p.Lys850Glu)	MYH9 (K850E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2444168	NM_002473.6(MYH9):c.2440C>T (p.Arg814Trp)	MYH9 (R814W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 2444030	NM_002473.6(MYH9):c.3193G>T (p.Ala1065Ser)	MYH9 (A1065S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1966121	NM_002473.6(MYH9):c.5329G>A (p.Glu1777Lys)	MYH9 (E1777K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GUncertain significance
Select item 1945107	NM_002473.6(MYH9):c.3868A>G (p.Ser1290Gly)	MYH9 (S1290G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1931791	NM_002473.6(MYH9):c.2037+4C>T	MYH9	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1805850	NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val)	MYH9 (A1886V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1805344	NM_002473.6(MYH9):c.4258C>G (p.Gln1420Glu)	MYH9 (Q1420E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1804967	NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln)	LOC126863137, MYH9 (K989Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 1804897	NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln)	LOC126863137, MYH9 (K974Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 1709634	NM_002473.6(MYH9):c.5629C>T (p.Arg1877Trp)	MYH9 (R1877W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1709110	NM_002473.6(MYH9):c.4024C>G (p.Arg1342Gly)	MYH9 (R1342G)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1703781	NM_002473.6(MYH9):c.277A>G (p.Asn93Asp)	MYH9 (N93D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1703780	NM_002473.6(MYH9):c.4712G>A (p.Arg1571Gln)	MYH9 (R1571Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1703779	NM_002473.6(MYH9):c.5765+2T>C	MYH9	Single nucleotide variant (splice donor variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GPathogenic
Select item 1703778	NM_002473.6(MYH9):c.4249C>T (p.Arg1417Trp)	MYH9 (R1417W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1703777	NM_002473.6(MYH9):c.4489C>T (p.Arg1497Trp)	MYH9 (R1497W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1703776	NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly)	LOC126863137, MYH9 (R903G)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1699301	NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu)	MYH9 (V1930L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1698773	NM_030773.4(TUBB1):c.624T>A (p.Tyr208Ter)	TUBB1 (Y208*)	Single nucleotide variant (nonsense)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GPathogenic
Select item 1696936	NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)	LOC126863137, MYH9 (R905C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1696214	NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)	MYH9 (V1516M)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1695376	NM_002473.6(MYH9):c.2153G>A (p.Arg718Gln)	MYH9 (R718Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1693576	NM_002473.6(MYH9):c.167_169del (p.Val56del)	MYH9 (V56del)	Deletion (inframe_deletion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
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	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1691246	NM_002473.6(MYH9):c.5680C>A (p.Arg1894=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1691245	NM_002473.6(MYH9):c.4250G>A (p.Arg1417Gln)	MYH9 (R1417Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1691243	NM_002473.6(MYH9):c.2707C>T (p.Arg903Trp)	LOC126863137, MYH9 (R903W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1685380	NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr)	MYH9 (N710T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1684933	NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp)	MYH9 (R1751W)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GUncertain significance
Select item 1684481	NM_002473.6(MYH9):c.3196_3207del (p.Glu1066_Ala1069del)	MYH9	Deletion (inframe_deletion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1684473	NM_002473.6(MYH9):c.651C>A (p.Ile217=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1684415	NM_002473.6(MYH9):c.3486G>T (p.Arg1162Ser)	MYH9 (R1162S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1684413	NM_002473.6(MYH9):c.4272C>A (p.Asp1424Glu)	MYH9 (D1424E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1684410	NM_002473.6(MYH9):c.5773del (p.Asp1925fs)	MYH9 (D1925fs)	Deletion (frameshift variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GPathogenic
Select item 1684334	NM_002473.6(MYH9):c.1124C>T (p.Ser375Phe)	MYH9 (S375F)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1684327	NM_002473.6(MYH9):c.284C>T (p.Ala95Val)	MYH9 (A95V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1684319	NM_002473.6(MYH9):c.3428C>T (p.Ala1143Val)	MYH9 (A1143V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1679093	NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg)	MYH9 (W828R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
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 provided +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)	not specified +3 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)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 1609184	NM_002473.6(MYH9):c.1518C>T (p.Leu506=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1593559	NM_002473.6(MYH9):c.2844T>G (p.Leu948=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1580694	NM_002473.6(MYH9):c.4128T>C (p.Ser1376=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1567853	NM_002473.6(MYH9):c.4095+20C>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GBenign/Likely benign
Select item 1553602	NM_002473.6(MYH9):c.2838+10C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +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)	not provided +2 more	GUncertain significance
Select item 1519109	NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)	MYH9 (L1008V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +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)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +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)	not provided +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)	Autosomal dominant nonsyndromic hearing loss 17 +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)	not provided +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)	not provided +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)	not provided +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)	Inborn genetic diseases +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 1336886	NM_002473.6(MYH9):c.3451A>G (p.Thr1151Ala)	MYH9 (T1151A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1331728	NM_002473.6(MYH9):c.5510T>G (p.Val1837Gly)	MYH9 (V1837G)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	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	GConflicting classifications of pathogenicity
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 1301638	NM_002473.6(MYH9):c.1306G>A (p.Ala436Thr)	MYH9 (A436T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1223302	NM_002473.6(MYH9):c.2913G>A (p.Ala971=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1219716	NM_002473.6(MYH9):c.3838G>A (p.Val1280Met)	MYH9 (V1280M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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