Sugi Variant

Sugi Variant/MYH9

MYH9 — 1918 ClinVar variants

All ClinVar germline MYH9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 739 flagged for review →

20 Pathogenic · 12 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 253 Conflicting · 173 Benign · 109 Benign/Likely benign · 609 Likely benign · 705 Uncertain significance

Full MYH9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 739

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 127

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 415

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 415

Predictors split 197

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 197

All MYH9 variants

Pathogenic 20

  • p.Arg1165Cys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg1933Ter Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg702Cys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Thr1155Ile Multiple submitters MYH9-related disorder ⚠
  • p.Trp33Arg Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Trp33Cys Multiple submitters MYH9-related disorder
  • p.Val1516Leu Multiple submitters Rare genetic deafness ⚠
  • c.5765+2T>C Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg1165Leu Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1936fs Single submitter MYH9-related disorder
  • p.Asp1424Ala Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asp1925fs Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asp1941fs Single submitter
  • p.Gln1068_Leu1074dup Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Glu1945Ter Single submitter
  • p.Glu84fs Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Leu837fs Single submitter
  • p.Tyr721Ter Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Asn76_Ser81del No assertion criteria macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asp1424His No assertion criteria macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Pathogenic/Likely pathogenic 12

  • p.Ala95Thr Multiple submitters MYH9-related disorder
  • p.Arg702Gly Multiple submitters MYH9-related disorder
  • p.Arg702His Multiple submitters MYH9-related disorder
  • p.Arg705His Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg718Trp Multiple submitters MYH9-related disorder
  • p.Asn93Lys Multiple submitters MYH9-related disorder
  • p.Asp1424Asn Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asp1424Tyr Multiple submitters MYH9-related disorder
  • p.Glu1841Lys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Gly1924fs Multiple submitters MYH9-related disorder
  • p.Ser96Leu Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Trp33Gly Multiple submitters MYH9-related disorder

Likely pathogenic 37

  • p.Asp1424Gly Multiple submitters Numerous pigmented freckles
  • p.Lys373Asn Multiple submitters MYH9-related disorder ⚠
  • p.Lys74Glu Multiple submitters MYH9-related disorder
  • p.Trp828Arg Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Val1516Met Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • c.5593-2A>G Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Ala1019_Leu1021del Single submitter MYH9-related disorder
  • p.Arg1050_Arg1051insGlnGluLeuGluLysThrArg Single submitter
  • p.Arg1162Ser Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1571Gln Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg1933fs Single submitter MYH9-related disorder
  • p.Arg702Ser Single submitter MYH9-related disorder
  • p.Arg903Gly Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asn122Asp Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asn710Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp1424Val Single submitter
  • p.Asp1447Tyr Single submitter
  • p.Asp1447Val Single submitter MYH9-related disorder
  • p.Gln1068_Leu1074del Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Gln1860_Tyr1861insTer Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Gln548Ter Single submitter MYH9-related disorder
  • p.Gln706Glu Single submitter MYH9-related disorder ⚠
  • p.Glu94Lys Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Gly1938fs Single submitter MYH9-related disorder
  • p.His1521Arg Single submitter MYH9-related disorder
  • p.Lys395Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Met1934fs Single submitter MYH9-related disorder
  • p.Phe41Ile Single submitter
  • p.Ser1435fs Single submitter MYH9-related disorder
  • p.Tyr11fs Single submitter
  • p.Val1929fs Single submitter
  • p.Ala44Pro No assertion criteria MYH9-related disorder
  • p.Ala95Val No assertion criteria macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asp1424Glu No assertion criteria macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu1084del No assertion criteria macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Val34Glu No assertion criteria May-Hegglin Disorder
  • p.Val56del No assertion criteria macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

Conflicting classifications of pathogenicity 253

  • c.1728+7A>G Single submitter MYH9-related disorder
  • c.1729-5G>A Single submitter MYH9-related disorder
  • c.2230-5C>T Single submitter
  • c.2500-9C>T Single submitter MYH9-related disorder
  • c.2977-10C>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.333+14G>A Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.3485+6C>T Single submitter
  • c.3838-11G>A Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.3942+5G>A Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.3943-7C>A Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.4345-11C>G Single submitter MYH9-related disorder
  • c.491-7G>A Single submitter
  • c.4932+12C>T Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.4932+3_4932+23del Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.5151-4G>A Single submitter
  • c.5151-5C>T Single submitter
  • c.519-6T>G Single submitter MYH9-related disorder
  • c.5275-7_5275-5del Single submitter MYH9-related disorder
  • c.5483+4C>T Single submitter
  • c.5593-14G>A Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.5766-5C>T Single submitter MYH9-related disorder
  • c.869-11A>T Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.*13G>A Single submitter MYH9-related disorder
  • c.*193C>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*195T>C Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*474C>T Single submitter MYH9-related disorder
  • c.*8C>T Single submitter MYH9-related disorder
  • p.Ala1065Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1088Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1197= Single submitter
  • p.Ala1202Val Single submitter MYH9-related disorder ⚠
  • p.Ala1213Gly Single submitter MYH9-related disorder ⚠
  • p.Ala1218Val Single submitter ⚠
  • p.Ala1252Val Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ala1305= Single submitter MYH9-related disorder
  • p.Ala1305Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1360Gly Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ala1360Thr Single submitter ⚠
  • p.Ala1407Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1436Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1451Val Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ala1469Val Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ala1610= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Ala1611Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1624Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1692Thr Single submitter MYH9-related disorder ⚠
  • p.Ala1692Val Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ala1729Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1773Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1811Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1865= Single submitter
  • p.Ala1891Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala192Val Single submitter MYH9-related disorder ⚠
  • p.Ala1951Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala44= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Ala526= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Ala574= Single submitter MYH9-related disorder
  • p.Ala864Val Single submitter Inborn genetic diseases ⚠
  • p.Arg1037Leu Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1107Gln Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1226Gln Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1226Leu Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1226Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1247Cys Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Arg1247His Single submitter Inborn genetic diseases ⚠
  • p.Arg1266His Single submitter Inborn genetic diseases ⚠
  • p.Arg1322Trp Single submitter nephrotic syndrome ⚠
  • p.Arg1342Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1342Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1417Gln Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1417Trp Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1433Cys Single submitter MYH9-related disorder ⚠
  • p.Arg1464His Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1466Gln Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1466Trp Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1483Gln Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1503Cys Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1576Trp Single submitter ⚠
  • p.Arg1592Gln Single submitter ⚠
  • p.Arg1602Ser Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1652His Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1658Cys Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1658His Single submitter ⚠
  • p.Arg1694His Single submitter Inborn genetic diseases ⚠
  • p.Arg1703Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1703Trp Single submitter ⚠
  • p.Arg1725Trp Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1726His Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1730Cys Single submitter ⚠
  • p.Arg1770His Single submitter ⚠
  • p.Arg1780Gln Single submitter ⚠
  • p.Arg1780Trp Single submitter nephrotic syndrome ⚠
  • p.Arg1830= Single submitter
  • p.Arg1877Gln Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1888Gln Single submitter Inborn genetic diseases
  • p.Arg1923= Single submitter MYH9-related disorder
  • p.Arg1936Gln Single submitter ⚠
  • p.Arg1936Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg209Gln Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg301Cys Single submitter MYH9-related disorder ⚠
  • p.Arg341Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg424Gln Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg494= Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg755Cys Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg802Trp Single submitter MYH9-related disorder ⚠
  • p.Arg814= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Arg814Trp Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asn1262Ser Single submitter ⚠
  • p.Asn1284= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Asn1787Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn18Ser Single submitter ⚠
  • p.Asn866Lys Single submitter MYH9-related disorder ⚠
  • p.Asn93Asp Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asn93Ile Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp1273Asn Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Asp1293Asn Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Asp1393Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp1409Asn Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Asp1447Glu Single submitter ⚠
  • p.Asp1447Gly Single submitter MYH9-related disorder ⚠
  • p.Asp1627Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp1634= Single submitter MYH9-related disorder
  • p.Asp1866Asn Single submitter ⚠
  • p.Asp1952His Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp230Asn Single submitter ⚠
  • p.Asp25Asn Single submitter cataract 35
  • p.Asp291Asn Single submitter X-linked myotubular myopathy ⚠
  • p.Asp384Asn Single submitter MYH9-related disorder ⚠
  • p.Asp582Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp70Ala Single submitter ⚠
  • p.Asp735= Single submitter MYH9-related disorder
  • p.Asp781Asn Single submitter ⚠
  • p.Asp7Tyr Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Gln1133Glu Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Gln1420Glu Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Gln1434His Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Gln493= Single submitter MYH9-related disorder
  • p.Gln4Arg Single submitter Inborn genetic diseases ⚠
  • p.Glu1082= Single submitter nephrotic syndrome
  • p.Glu1225Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu1228Lys Single submitter hearing loss disorder ⚠
  • p.Glu1263Lys Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu1337Lys Single submitter ⚠
  • p.Glu1350Asp Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu1384Gln Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Glu1453del Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Glu1547Asp Single submitter ⚠
  • p.Glu1581Lys Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Glu1653Gln Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Glu1945Lys Single submitter ⚠
  • p.Glu1960Lys Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Glu491del Single submitter
  • p.Glu530= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Glu57Val Single submitter ⚠
  • p.Glu699Lys Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Glu774Gly Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Gly1287Arg Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Gly51= Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Gly681Ser Single submitter MYH9-related disorder ⚠
  • p.Ile1064= Single submitter MYH9-related disorder
  • p.Ile1064Phe Single submitter Inborn genetic diseases
  • p.Ile1071= Single submitter
  • p.Ile1187= Single submitter MYH9-related disorder
  • p.Ile1359= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Ile1456Met Single submitter Inborn genetic diseases ⚠
  • p.Ile1626= Single submitter MYH9-related disorder
  • p.Ile170Val Single submitter Inborn genetic diseases ⚠
  • p.Ile310Val Single submitter Inborn genetic diseases ⚠
  • p.Ile448= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Ile497= Single submitter
  • p.Ile596= Single submitter kidney disorder
  • p.Ile756Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ile783Val Single submitter ⚠
  • p.Ile784Met Single submitter Inborn genetic diseases ⚠
  • p.Leu1008Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Leu1450= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Leu1562Val Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Leu1643Met Single submitter Inborn genetic diseases ⚠
  • p.Leu1819Arg Single submitter MYH9-related disorder ⚠
  • p.Leu1848Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Lys1234Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys1298Asn Single submitter ⚠
  • p.Lys1301Asn Single submitter Inborn genetic diseases ⚠
  • p.Lys1352Arg Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Lys1444= Single submitter
  • p.Lys1555Arg Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Lys1585Gln Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Lys1676Glu Single submitter MYH9-related disorder ⚠
  • p.Lys1724Arg Single submitter ⚠
  • p.Lys1788Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys1793Arg Single submitter MYH9-related disorder ⚠
  • p.Lys1920Arg Single submitter ⚠
  • p.Lys225= Single submitter
  • p.Lys974Gln Single submitter Inborn genetic diseases ⚠
  • p.Met1028Val Single submitter Inborn genetic diseases ⚠
  • p.Met1369Val Single submitter ⚠
  • p.Met1373Ile Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Met1565Val Single submitter Inborn genetic diseases ⚠
  • p.Met1682Ile Single submitter Inborn genetic diseases ⚠
  • p.Met318Leu Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Met318Val Single submitter Inborn genetic diseases ⚠
  • p.Met86Lys Single submitter ⚠
  • p.Phe1446Ser Single submitter ⚠
  • p.Phe41Ser Single submitter MYH9-related disorder ⚠
  • p.Pro296Leu Single submitter ⚠
  • p.Pro366= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Pro522= Single submitter
  • p.Pro633= Single submitter MYH9-related disorder
  • p.Pro836Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1061Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser1061Cys Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ser1114Pro Single submitter MYH9-related disorder ⚠
  • p.Ser1290Gly Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ser1435= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Ser1519Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser1606= Single submitter MYH9-related disorder
  • p.Ser1606Leu Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ser1628Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1916= Single submitter
  • p.Ser197= Single submitter
  • p.Ser36= Single submitter
  • p.Ser39Arg Single submitter ⚠
  • p.Ser609= Single submitter
  • p.Ser609Leu Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Thr1151= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Thr1151Ala Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Thr1416Met Single submitter MYH9-related disorder ⚠
  • p.Thr1539Met Single submitter Inborn genetic diseases ⚠
  • p.Thr181= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Thr184= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Thr1904Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr1904Ile Single submitter ⚠
  • p.Thr1906Met Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Thr383= Single submitter
  • p.Thr630= Single submitter MYH9-related disorder
  • p.Thr869= Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Thr873Met Single submitter Inborn genetic diseases ⚠
  • p.Thr907Ala Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Tyr106= Single submitter MYH9-related disorder
  • p.Tyr111= Single submitter
  • p.Tyr11Cys Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Val1198Met Single submitter Inborn genetic diseases ⚠
  • p.Val1280Met Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Val1534Met Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Val1837Gly Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Val1930Leu Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Val1930Met Single submitter MYH9-related disorder ⚠
  • p.Val353Ile Single submitter autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Val396= Single submitter MYH9-related disorder
  • p.Val401Ile Single submitter MYH9-related disorder
  • p.Val65Met Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Val741Met Single submitter ⚠
  • p.Val782Ile Single submitter MYH9-related disorder ⚠

Benign 173

Benign/Likely benign 109

  • c.1012+20A>G Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.1108+19C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • c.1108+9C>T Multiple submitters MYH9-related disorder
  • c.1228-16C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • c.1555-12C>T Multiple submitters
  • c.1728+47G>T Multiple submitters
  • c.1729-6C>T Multiple submitters MYH9-related disorder
  • c.1843+14C>A Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2038-5T>C Multiple submitters MYH9-related disorder
  • c.2229+13G>T Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2500-14A>G Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.3101-11dup Multiple submitters
  • c.3485+18G>C Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.3485+8C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • c.3837+18A>G Multiple submitters
  • c.3838-8C>T Multiple submitters MYH9-related disorder
  • c.4095+20C>T Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.4344+10C>T Multiple submitters MYH9-related disorder
  • c.5151-14C>T Multiple submitters
  • c.5275-10del Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.5483+4C>G Multiple submitters kidney disorder
  • c.5593-14G>T Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.5765+15C>T Multiple submitters
  • c.5765+9C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • c.705+11C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • c.705+14C>T Multiple submitters MYH9-related disorder
  • c.705+17C>T Multiple submitters
  • c.705+8G>T Multiple submitters
  • c.706-19G>A Multiple submitters
  • c.769+15C>T Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.-19-7C>T Multiple submitters MYH9-related disorder
  • c.*1329C>T Multiple submitters MYH9-related disorder
  • c.*243C>T Multiple submitters MYH9-related disorder
  • c.*686C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • c.*81C>T Multiple submitters MYH9-related disorder
  • p.Ala1072= Multiple submitters MYH9-related disorder
  • p.Ala1072Thr Multiple submitters
  • p.Ala1202= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Ala1252Thr Multiple submitters Inborn genetic diseases
  • p.Ala1720Ser Multiple submitters Inborn genetic diseases
  • p.Ala1903= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Ala1939= Multiple submitters
  • p.Ala1939Thr Multiple submitters MYH9-related disorder
  • p.Ala1951= Multiple submitters
  • p.Ala1959= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Ala6= Multiple submitters MYH9-related disorder
  • p.Ala739= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Ala765= Multiple submitters MYH9-related disorder
  • p.Ala971Thr Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg1400Trp Multiple submitters MYH9-related disorder ⚠
  • p.Arg1576Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Arg1652= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Arg1898= Multiple submitters
  • p.Arg240= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Asn1128= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Asn1231= Multiple submitters
  • p.Asn1749= Multiple submitters
  • p.Asn752= Multiple submitters MYH9-related disorder
  • p.Asn93= Multiple submitters
  • p.Asp1336= Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Asp1708= Multiple submitters
  • p.Asp361= Multiple submitters MYH9-related disorder
  • p.Asp781Glu Multiple submitters Inborn genetic diseases
  • p.Asp85= Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Cys816= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Gln1533Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1686= Multiple submitters
  • p.Gln3Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Gln839= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Glu1013= Multiple submitters
  • p.Glu1115= Multiple submitters MYH9-related disorder
  • p.Glu1412= Multiple submitters
  • p.Glu1453= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Glu1670= Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Gly1715Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Gly1940Arg Multiple submitters MYH9-related disorder
  • p.Gly205= Multiple submitters MYH9-related disorder
  • p.His1401= Multiple submitters
  • p.His1521= Multiple submitters MYH9-related disorder
  • p.Ile1683= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Ile1759= Multiple submitters Inborn genetic diseases
  • p.Ile389= Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Ile414= Multiple submitters MYH9-related disorder
  • p.Ile55= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Leu1706= Multiple submitters
  • p.Leu1727= Multiple submitters
  • p.Leu46Phe Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Leu562= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Leu687= Multiple submitters MYH9-related disorder
  • p.Met1651Thr Multiple submitters MYH9-related disorder
  • p.Met879Leu Multiple submitters MYH9-related disorder
  • p.Pro311= Multiple submitters MYH9-related disorder
  • p.Pro392= Multiple submitters MYH9-related disorder
  • p.Ser1943= Multiple submitters
  • p.Ser463= Multiple submitters
  • p.Thr1208= Multiple submitters
  • p.Thr1414= Multiple submitters
  • p.Thr156= Multiple submitters
  • p.Thr226= Multiple submitters
  • p.Thr290= Multiple submitters Inborn genetic diseases
  • p.Thr386= Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Thr660= Multiple submitters
  • p.Thr807= Multiple submitters
  • p.Tyr1408= Multiple submitters
  • p.Tyr193= Multiple submitters
  • p.Val1233Met Multiple submitters
  • p.Val1914= Multiple submitters
  • c.*325C>T Single submitter MYH9-related disorder
  • c.*329C>T Single submitter autosomal dominant nonsyndromic hearing loss 17

Likely benign 609

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 705

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1843+5G>A Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2037+4C>T Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2159+6C>T Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2499+4C>T Multiple submitters kidney disorder
  • c.3272+3G>T Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.3485+3G>T Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • c.3630+5G>A Multiple submitters
  • c.5483+4C>A Multiple submitters
  • c.5765+4A>G Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.769+6C>T Multiple submitters
  • c.*539G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Ala1097Ser Multiple submitters ⚠
  • p.Ala1484Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1659Thr Multiple submitters MYH9-related disorder ⚠
  • p.Ala220Val Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ala519Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ala54Pro Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala631Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala800Phe Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Ala817Thr Multiple submitters MYH9-related disorder ⚠
  • p.Arg1035Cys Multiple submitters hearing loss disorder ⚠
  • p.Arg1037Cys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1050Cys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1210= Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg1210Trp Multiple submitters ⚠
  • p.Arg1226Pro Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1433His Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1472Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1483Trp Multiple submitters ⚠
  • p.Arg1497Trp Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1571Trp Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1633Trp Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg165Ter Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg1661Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1661Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1694Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg1697Cys Multiple submitters MYH9-related disorder ⚠
  • p.Arg1725Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Arg1751Trp Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1770Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1830His Multiple submitters MYH9-related disorder ⚠
  • p.Arg1855Gln Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1877Trp Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1912Cys Multiple submitters MYH9-related disorder ⚠
  • p.Arg1923Cys Multiple submitters MYH9-related disorder ⚠
  • p.Arg1923His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1932His Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg266Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg387Ser Multiple submitters ⚠
  • p.Arg424Trp Multiple submitters ⚠
  • p.Arg494His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg617Cys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg617His Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg693Cys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg693His Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg764Cys Multiple submitters ⚠
  • p.Arg775Ter Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Arg802Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Arg814Gln Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg823Gln Multiple submitters ⚠
  • p.Arg842Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1561Ser Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asn1787Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Asn18Lys Multiple submitters ⚠
  • p.Asn368Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn667Ser Multiple submitters ⚠
  • p.Asn752Asp Multiple submitters ⚠
  • p.Asn93Ser Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp1059Glu Multiple submitters ⚠
  • p.Asp1302Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1368Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1655Gly Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp1655His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1750Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Asp1760Asn Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp317Gly Multiple submitters
  • p.Asp367Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Asp460= Multiple submitters
  • p.Asp507Asn Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp539His Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Asp605Glu Multiple submitters MYH9-related disorder ⚠
  • p.Asp690Glu Multiple submitters ⚠
  • p.Cys1650Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1077Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1188Glu Multiple submitters ⚠
  • p.Gln1220His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln1563Arg Multiple submitters ⚠
  • p.Gln1667Arg Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Gln1684Arg Multiple submitters ⚠
  • p.Glu1108Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1108Gly Multiple submitters ⚠
  • p.Glu1216Lys Multiple submitters ⚠
  • p.Glu1225Lys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu1232Asp Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu1524Gln Multiple submitters kidney failure ⚠
  • p.Glu1552Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Glu1582Gly Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu1653Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Glu1679Asp Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Glu1681Gly Multiple submitters ⚠
  • p.Glu1777Lys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu1899Lys Multiple submitters ⚠
  • p.Glu52Lys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu53Ala Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu544Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu722Gln Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Glu88Ala Multiple submitters Inborn genetic diseases
  • p.Gly285Ala Multiple submitters ⚠
  • p.Gly379Asp Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Gly732Ser Multiple submitters ⚠
  • p.Gly736Arg Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Gly766Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His1772Tyr Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ile1731Val Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ile524Val Multiple submitters ⚠
  • p.Ile596Val Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Leu1205Met Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Leu1598Met Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Leu600Phe Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Lys1234Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1248Glu Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Lys141Asn Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Lys1525Arg Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Lys1527Arg Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Lys1585del Multiple submitters autosomal dominant nonsyndromic hearing loss 17
  • p.Lys656Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys74del Multiple submitters
  • p.Met1373Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met1489Thr Multiple submitters MYH9-related disorder ⚠
  • p.Met1510Arg Multiple submitters MYH9-related disorder ⚠
  • p.Met1565Thr Multiple submitters Inborn genetic diseases
  • p.Met1678Val Multiple submitters MYH9-related disorder ⚠
  • p.Met323Thr Multiple submitters ⚠
  • p.Met425Leu Multiple submitters MYH9-related disorder ⚠
  • p.Met627Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met809Ile Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Phe243Leu Multiple submitters ⚠
  • p.Phe302Leu Multiple submitters ⚠
  • p.Pro35Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro78Leu Multiple submitters ⚠
  • p.Ser1195Leu Multiple submitters MYH9-related disorder ⚠
  • p.Ser1243Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ser39Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Ser628Leu Multiple submitters ⚠
  • p.Ser876Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1504Ala Multiple submitters ⚠
  • p.Thr630Ile Multiple submitters Inborn genetic diseases
  • p.Thr664Met Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Thr780Ser Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Thr90Ala Multiple submitters
  • p.Tyr1408His Multiple submitters ⚠
  • p.Tyr278Cys Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Val1285Met Multiple submitters autosomal dominant nonsyndromic hearing loss 17 ⚠
  • p.Val1560Gly Multiple submitters ⚠
  • p.Val374Met Multiple submitters Inborn genetic diseases
  • p.Val56Met Multiple submitters MYH9-related disorder ⚠
  • p.Val615Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val688Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val855_Lys856insAlaLysGluGluGluLeuVal Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Val97Leu Multiple submitters macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • c.1108+3A>G Single submitter
  • c.1109-6_1109-2del Single submitter
  • c.1555-15C>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.2037+17G>A Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2037+3del Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2038-1G>C Single submitter
  • c.2038-3C>T Single submitter
  • c.2038-4C>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.2161_2165del Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.2230-11C>A Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.2391-7C>T Single submitter MYH9-related disorder
  • c.2499+5G>A Single submitter
  • c.3100+5G>A Single submitter
  • c.3101-12C>T Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.333+3A>G Single submitter
  • c.3485+2TG[3] Single submitter
  • c.3485+4T>C Single submitter
  • c.3486-16G>A Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.3486-6G>C Single submitter
  • c.3630+1G>T Single submitter
  • c.3630+4C>G Single submitter
  • c.3631-8C>T Single submitter
  • c.3838-3C>T Single submitter
  • c.3838-7G>A Single submitter
  • c.3942+5G>C Single submitter
  • c.3942+6G>A Single submitter
  • c.3942+6G>T Single submitter
  • c.4344+4T>A Single submitter
  • c.4558-12T>C Single submitter
  • c.4558-2A>C Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.4933-14_4933-13delinsAA Single submitter
  • c.5061+5G>A Single submitter MYH9-related disorder
  • c.518+4_518+7del Single submitter
  • c.518+4A>G Single submitter
  • c.518+5G>A Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.519-4_519-3insA Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.5274+5G>C Single submitter
  • c.5275-4G>A Single submitter
  • c.5275-60_5275-11del Single submitter
  • c.5483+5G>A Single submitter
  • c.5483+5G>C Single submitter
  • c.5484-3C>G Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.5592+6G>A Single submitter
  • c.5592+7G>A Single submitter
  • c.5592+8C>T Single submitter
  • c.5766-13_5766-2dup Single submitter
  • c.613-5T>C Single submitter
  • c.706-5_706-2del Single submitter
  • c.868+7A>C Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • c.869-4dup Single submitter
  • c.-153C>T Single submitter MYH9-related disorder
  • c.-163C>G Single submitter MYH9-related disorder
  • c.-86G>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*1026C>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*107A>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*1099A>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*1193A>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*1204A>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*1330A>G Single submitter MYH9-related disorder
  • c.*248C>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*273C>T Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*639C>T Single submitter MYH9-related disorder
  • c.*645C>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*656T>C Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*73C>T Single submitter MYH9-related disorder
  • c.*748A>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*74G>A Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*802T>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*975A>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • c.*978A>G Single submitter autosomal dominant nonsyndromic hearing loss 17
  • p.Ala1065Pro Single submitter MYH9-related disorder ⚠
  • p.Ala1065Ser Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1069_Lys1075del Single submitter
  • p.Ala1069Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1072Glu Single submitter
  • p.Ala1072Val Single submitter ⚠
  • p.Ala1079Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1143_Leu1144= Single submitter
  • p.Ala1197Val Single submitter ⚠
  • p.Ala1230Thr Single submitter ⚠
  • p.Ala1305Gly Single submitter ⚠
  • p.Ala1305Val Single submitter ⚠
  • p.Ala1351Val Single submitter ⚠
  • p.Ala1451Gly Single submitter ⚠
  • p.Ala1461Val Single submitter ⚠
  • p.Ala1467Ser Single submitter ⚠
  • p.Ala1467Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1482= Single submitter
  • p.Ala1493Gly Single submitter ⚠
  • p.Ala152Val Single submitter Monogenic hearing loss ⚠
  • p.Ala1554Ser Single submitter ⚠
  • p.Ala1564Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1666Val Single submitter ⚠
  • p.Ala1833Val Single submitter ⚠
  • p.Ala1868Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1882Thr Single submitter ⚠
  • p.Ala1886Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala1889Val Single submitter ⚠
  • p.Ala1935= Single submitter
  • p.Ala1954Ser Single submitter ⚠
  • p.Ala1956Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala195Val Single submitter ⚠
  • p.Ala404Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala410Ser Single submitter ⚠
  • p.Ala418Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala420Val Single submitter ⚠
  • p.Ala436Thr Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Ala445Pro Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala445Ser Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala44Leu Single submitter Macrothrombocytopenia
  • p.Ala625Ser Single submitter MYH9-related disorder ⚠
  • p.Ala739Val Single submitter ⚠
  • p.Ala795Ser Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala798Val Single submitter ⚠
  • p.Ala800Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala800Val Single submitter Inborn genetic diseases ⚠
  • p.Ala818Val Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Ala849= Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
  • p.Ala849Pro Single submitter ⚠
  • p.Arg1038Gly Single submitter
  • p.Arg1043Leu Single submitter ⚠
  • p.Arg1043Pro Single submitter ⚠
  • p.Arg1051Trp Single submitter ⚠
  • p.Arg1107Trp Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1124His Single submitter MYH9-related disorder ⚠
  • p.Arg1135Gln Single submitter
  • p.Arg1165Ser Single submitter ⚠
  • p.Arg1268His Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1268Leu Single submitter
  • p.Arg1342Gly Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1342Leu Single submitter ⚠
  • p.Arg1400Leu Single submitter ⚠
  • p.Arg1497Gln Single submitter ⚠
  • p.Arg1528Gly Single submitter ⚠
  • p.Arg1557Gln Single submitter ⚠
  • p.Arg1557Trp Single submitter ⚠
  • p.Arg1602Lys Single submitter ⚠
  • p.Arg1612Gln Single submitter macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ⚠
  • p.Arg1641Gln Single submitter
  • p.Arg1641Leu Single submitter ⚠