| NM_002473.6(MYH9):c.2900T>A (p.Val967Glu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032219] |
Chr22:36300203 [GRCh38]
Chr22:36696249 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032221] |
Chr22:36295068 [GRCh38]
Chr22:36691114 [GRCh37]
Chr22:22q12.3 |
pathogenic|not provided |
| NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) |
single nucleotide variant |
MYH9-related disorder [RCV000790359]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032224]|not provided [RCV002513293] |
Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000402895]|MYH9-related disorder [RCV000368736]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032225]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002504851]|not provided [RCV002054532]|not specified [RCV000037563] |
Chr22:36288308 [GRCh38]
Chr22:36684354 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) |
single nucleotide variant |
Abnormal bleeding [RCV001270545]|MYH9-related disorder [RCV000790363]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015116]|not provided [RCV001092002] |
Chr22:36282754 [GRCh38]
Chr22:36678800 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV002466403]|MYH9-related disorder [RCV000790361]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015119]|not provided [RCV001310800] |
Chr22:36284474 [GRCh38]
Chr22:36680520 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) |
single nucleotide variant |
Abnormal bleeding [RCV001270614]|Autosomal dominant nonsyndromic hearing loss 17 [RCV001542710]|MYH9-related disorder [RCV000790357]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015121]|not provided [RCV001092004] |
Chr22:36295069 [GRCh38]
Chr22:36691115 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) |
single nucleotide variant |
MYH9-related disorder [RCV000790350]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015122] |
Chr22:36348958 [GRCh38]
Chr22:36745003 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.4270G>C (p.Asp1424His) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032223] |
Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.3464C>T (p.Thr1155Ile) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015124]|not provided [RCV002513057] |
Chr22:36295526 [GRCh38]
Chr22:36691572 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV003147289]|MYH9-related disorder [RCV000790354]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015129]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490369]|not provided [RCV000523446] |
Chr22:36305985 [GRCh38]
Chr22:36702031 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.2114G>A (p.Arg705His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000015130]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032218]|not provided [RCV001659697] |
Chr22:36305975 [GRCh38]
Chr22:36702021 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.5821del (p.Asp1941fs) |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015131] |
Chr22:36282730 [GRCh38]
Chr22:36678776 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.2105G>A (p.Arg702His) |
single nucleotide variant |
MYH9-related disorder [RCV000851738]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015132]|not provided [RCV001851865] |
Chr22:36305984 [GRCh38]
Chr22:36702030 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV002466404]|MYH9-related disorder [RCV000790358]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015134]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496364]|Thrombocytopenia [RCV001271110]|not provided [RCV002513058] |
Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000477821]|MYH9-related disorder [RCV000790352]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015138]|not provided [RCV001537286] |
Chr22:36348950 [GRCh38]
Chr22:36744995 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.3195_3215del (p.Gln1068_Leu1074del) |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015139] |
Chr22:36296900..36296920 [GRCh38]
Chr22:36692946..36692966 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup) |
duplication |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015141] |
Chr22:36296899..36296900 [GRCh38]
Chr22:36692945..36692946 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.228_245del (p.Asn76_Ser81del) |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015142] |
Chr22:36348992..36349009 [GRCh38]
Chr22:36745037..36745054 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.5050C>T (p.Gln1684Ter) |
single nucleotide variant |
MYH9-related disorder [RCV000778658] |
Chr22:36286729 [GRCh38]
Chr22:36682775 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del) |
microsatellite |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002265869]|not provided [RCV000722320] |
Chr22:36300868..36300870 [GRCh38]
Chr22:36696914..36696916 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1083C>T (p.Asp361=) |
single nucleotide variant |
Atypical hemolytic-uremic syndrome [RCV002293991]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000393048]|MYH9-related disorder [RCV000349300]|not provided [RCV000884373]|not specified [RCV000037545] |
Chr22:36319565 [GRCh38]
Chr22:36715610 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.1108+9C>T |
single nucleotide variant |
Atypical hemolytic-uremic syndrome [RCV002293992]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000317889]|MYH9-related disorder [RCV000279147]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496594]|not provided [RCV000843626]|not specified [RCV000037546] |
Chr22:36319531 [GRCh38]
Chr22:36715576 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1554+7A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000334868]|MYH9-related disorder [RCV000392730]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778677]|not provided [RCV002054668]|not specified [RCV000037547] |
Chr22:36314138 [GRCh38]
Chr22:36710183 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+10G>A |
single nucleotide variant |
Atypical hemolytic-uremic syndrome [RCV002293993]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000378689]|MYH9-related disorder [RCV000326334]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778678]|not provided [RCV001811263]|not specified [RCV000037548] |
Chr22:36312039 [GRCh38]
Chr22:36708084 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1729-6C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000269211]|Kidney disorder [RCV002293994]|MYH9-related disorder [RCV000384702]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496595]|not provided [RCV000839997]|not specified [RCV000037549] |
Chr22:36309402 [GRCh38]
Chr22:36705447 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2038-5T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000314431]|Kidney disorder [RCV002293995]|MYH9-related disorder [RCV000366795]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490512]|not provided [RCV000839998]|not specified [RCV000037550] |
Chr22:36306056 [GRCh38]
Chr22:36702102 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2061C>T (p.Leu687=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000275795]|MYH9-related disorder [RCV000354168]|not provided [RCV000840082]|not specified [RCV000037551] |
Chr22:36306028 [GRCh38]
Chr22:36702074 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2256T>C (p.Asn752=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000382652]|MYH9-related disorder [RCV000285855]|not provided [RCV002054669]|not specified [RCV000037552] |
Chr22:36304129 [GRCh38]
Chr22:36700175 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3100+11G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000351362]|MYH9-related disorder [RCV000296510]|not provided [RCV001540858]|not specified [RCV000037553] |
Chr22:36298908 [GRCh38]
Chr22:36694954 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000281034]|MYH9-related disorder [RCV000375503]|not provided [RCV000725348]|not specified [RCV000037554] |
Chr22:36296923 [GRCh38]
Chr22:36692969 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) |
single nucleotide variant |
Atypical hemolytic-uremic syndrome [RCV002293996]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000309077]|MYH9-related disorder [RCV000404900]|not provided [RCV000992410]|not specified [RCV000037555] |
Chr22:36295645 [GRCh38]
Chr22:36691691 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000404023]|MYH9-related disorder [RCV000351776]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778679]|not provided [RCV002054670]|not specified [RCV000037556] |
Chr22:36295561 [GRCh38]
Chr22:36691607 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3838-12C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000366178]|MYH9-related disorder [RCV000330231]|not provided [RCV001528025]|not specified [RCV000037557] |
Chr22:36293875 [GRCh38]
Chr22:36689921 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.3838-8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000315405]|Focal segmental glomerulosclerosis [RCV002293997]|MYH9-related disorder [RCV000404950]|not provided [RCV000844387]|not specified [RCV000037558] |
Chr22:36293871 [GRCh38]
Chr22:36689917 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000382897]|MYH9-related disorder [RCV000346916]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990430]|Meniere disease [RCV004566805]|not provided [RCV000992411]|not specified [RCV000037559] |
Chr22:36292132 [GRCh38]
Chr22:36688178 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4563C>T (p.His1521=) |
single nucleotide variant |
Atypical hemolytic-uremic syndrome [RCV002293998]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000373096]|MYH9-related disorder [RCV000278039]|not provided [RCV000992412]|not specified [RCV000037560] |
Chr22:36288934 [GRCh38]
Chr22:36684980 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4716C>T (p.Asp1572=) |
single nucleotide variant |
not specified [RCV000037561] |
Chr22:36288781 [GRCh38]
Chr22:36684827 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000310599]|MYH9-related disorder [RCV000365226]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778680]|not provided [RCV002054671]|not specified [RCV000037562] |
Chr22:36288312 [GRCh38]
Chr22:36288312..36288313 [GRCh38]
Chr22:36684358 [GRCh37]
Chr22:36684358..36684359 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000280212]|MYH9-related disorder [RCV000335221]|not provided [RCV002054672]|not specified [RCV000037564] |
Chr22:36288285 [GRCh38]
Chr22:36684331 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000392887]|Focal segmental glomerulosclerosis [RCV002293999]|MYH9-related disorder [RCV000338710]|not provided [RCV000512726]|not specified [RCV000037565] |
Chr22:36286827 [GRCh38]
Chr22:36682873 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5151-4G>A |
single nucleotide variant |
MYH9-related disorder [RCV004534794]|not provided [RCV000724182]|not specified [RCV000037566] |
Chr22:36285785 [GRCh38]
Chr22:36681831 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000353893]|MYH9-related disorder [RCV000315373]|not provided [RCV000514769]|not specified [RCV000037567] |
Chr22:36285281 [GRCh38]
Chr22:36681327 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5483+4C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000311714]|Kidney disorder [RCV002294000]|MYH9-related disorder [RCV000404724]|not provided [RCV000992415]|not specified [RCV000037568] |
Chr22:36285117 [GRCh38]
Chr22:36681163 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5766-3del |
deletion |
Atypical hemolytic-uremic syndrome [RCV002294001]|MYH9-related disorder [RCV000281925]|Nonsyndromic Hearing Loss, Dominant [RCV000320666]|not provided [RCV000948132]|not specified [RCV000037569] |
Chr22:36282788 [GRCh38]
Chr22:36678834 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) |
single nucleotide variant |
Atypical hemolytic-uremic syndrome [RCV002294002]|Autosomal dominant nonsyndromic hearing loss 17 [RCV000374178]|MYH9-related disorder [RCV000317245]|not provided [RCV000965497]|not specified [RCV000037570] |
Chr22:36282770 [GRCh38]
Chr22:36678816 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000370238]|MYH9-related disorder [RCV000259717]|not provided [RCV000960213]|not specified [RCV000037571] |
Chr22:36282733 [GRCh38]
Chr22:36678779 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.705+9C>T |
single nucleotide variant |
MYH9-related disorder [RCV004534795]|not provided [RCV001852780]|not specified [RCV000037572] |
Chr22:36322420 [GRCh38]
Chr22:36718465 [GRCh37]
Chr22:22q12.3 |
likely benign |
| GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 |
copy number loss |
See cases [RCV000051364] |
Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1 |
pathogenic |
| GRCh38/hg38 22q12.3-13.1(chr22:36068124-38002382)x3 |
copy number gain |
See cases [RCV000051683] |
Chr22:36068124..38002382 [GRCh38]
Chr22:36464172..38398389 [GRCh37]
Chr22:34794118..36728335 [NCBI36]
Chr22:22q12.3-13.1 |
pathogenic |
| GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 |
copy number gain |
See cases [RCV000051682] |
Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33 |
pathogenic |
| GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3 |
copy number gain |
See cases [RCV000052854] |
Chr22:35753347..36593973 [GRCh38]
Chr22:36149394..36990020 [GRCh37]
Chr22:34479340..35319966 [NCBI36]
Chr22:22q12.3 |
uncertain significance |
| GRCh38/hg38 22q12.3(chr22:36246060-36313181)x3 |
copy number gain |
See cases [RCV000052855] |
Chr22:36246060..36313181 [GRCh38]
Chr22:36642106..36709226 [GRCh37]
Chr22:34972052..35039172 [NCBI36]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3914C>T (p.Ala1305Val) |
single nucleotide variant |
not provided [RCV002287141] |
Chr22:36293787 [GRCh38]
Chr22:36689833 [GRCh37]
Chr22:35019779 [NCBI36]
Chr22:22q12.3 |
uncertain significance|not provided |
| NM_002473.6(MYH9):c.4639G>C (p.Glu1547Gln) |
single nucleotide variant |
not provided [RCV000657987] |
Chr22:36288858 [GRCh38]
Chr22:36684904 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 |
copy number gain |
See cases [RCV000133646] |
Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 |
copy number gain |
See cases [RCV000134730] |
Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3 |
copy number gain |
See cases [RCV000138088] |
Chr22:36313122..36561017 [GRCh38]
Chr22:36709167..36957064 [GRCh37]
Chr22:35039113..35287010 [NCBI36]
Chr22:22q12.3 |
uncertain significance |
| GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 |
copy number gain |
See cases [RCV000137926] |
Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3 |
pathogenic |
| GRCh38/hg38 22q12.3(chr22:36218250-36311777)x3 |
copy number gain |
See cases [RCV000141655] |
Chr22:36218250..36311777 [GRCh38]
Chr22:36614296..36707822 [GRCh37]
Chr22:34944242..35037768 [NCBI36]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498759]|not provided [RCV002515003]|not specified [RCV000155868] |
Chr22:36295606 [GRCh38]
Chr22:36691652 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004019868]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484941]|not specified [RCV000155935] |
Chr22:36288257 [GRCh38]
Chr22:36684303 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5013C>T (p.Asn1671=) |
single nucleotide variant |
not provided [RCV000916539]|not specified [RCV000155949] |
Chr22:36286766 [GRCh38]
Chr22:36682812 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498760]|not provided [RCV002515006]|not specified [RCV000155957] |
Chr22:36285697 [GRCh38]
Chr22:36681743 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1980G>A (p.Thr660=) |
single nucleotide variant |
not provided [RCV002516142]|not specified [RCV000155977] |
Chr22:36306471 [GRCh38]
Chr22:36702517 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150619]|Hearing impairment [RCV001375382]|MYH9-related disorder [RCV001150618]|not provided [RCV000416222]|not specified [RCV000151322] |
Chr22:36286753 [GRCh38]
Chr22:36682799 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000376435]|MYH9-related disorder [RCV000321800]|not provided [RCV001675636]|not specified [RCV000151323] |
Chr22:36288770 [GRCh38]
Chr22:36684816 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5718G>A (p.Thr1906=) |
single nucleotide variant |
not provided [RCV003764960]|not specified [RCV000155995] |
Chr22:36284140 [GRCh38]
Chr22:36680186 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2037+14G>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484943]|not provided [RCV002515007]|not specified [RCV000155997] |
Chr22:36306400 [GRCh38]
Chr22:36702446 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2789G>A (p.Arg930His) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001281687]|not specified [RCV000156038] |
Chr22:36300900 [GRCh38]
Chr22:36696946 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004019874]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478463]|not provided [RCV001850149]|not specified [RCV000156169] |
Chr22:36292151 [GRCh38]
Chr22:36688197 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5107C>T (p.Arg1703Trp) |
single nucleotide variant |
MYH9-related disorder [RCV004544449]|not provided [RCV001785481]|not specified [RCV000156181] |
Chr22:36285908 [GRCh38]
Chr22:36681954 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.1056C>T (p.Ile352=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498764]|not provided [RCV000919506]|not specified [RCV000156216] |
Chr22:36319592 [GRCh38]
Chr22:36715637 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484947]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003444207]|not specified [RCV000156222] |
Chr22:36320833 [GRCh38]
Chr22:36716878 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4558-13C>T |
single nucleotide variant |
not provided [RCV003764968]|not specified [RCV000156351] |
Chr22:36288952 [GRCh38]
Chr22:36684998 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5275-10del |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505178]|not provided [RCV001582633]|not specified [RCV000156416] |
Chr22:36285339 [GRCh38]
Chr22:36681385 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5484-13G>C |
single nucleotide variant |
not specified [RCV000156526] |
Chr22:36284524 [GRCh38]
Chr22:36680570 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) |
single nucleotide variant |
MYH9-related disorder [RCV004732706]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002281965]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478428]|not provided [RCV003231344]|not specified [RCV000151318] |
Chr22:36282745 [GRCh38]
Chr22:36678791 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5766-10C>T |
single nucleotide variant |
not specified [RCV000151319] |
Chr22:36282795 [GRCh38]
Chr22:36678841 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5593-14G>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498702]|not provided [RCV002055988]|not specified [RCV000151320] |
Chr22:36284279 [GRCh38]
Chr22:36680325 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.4638C>T (p.Asp1546=) |
single nucleotide variant |
not provided [RCV000992413]|not specified [RCV000151324] |
Chr22:36288859 [GRCh38]
Chr22:36684905 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478429]|Rare genetic deafness [RCV000151326]|not provided [RCV001850061] |
Chr22:36289096 [GRCh38]
Chr22:36685142 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.4448G>A (p.Arg1483Gln) |
single nucleotide variant |
not provided [RCV002516038]|not specified [RCV000151328] |
Chr22:36289194 [GRCh38]
Chr22:36685240 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4308G>A (p.Ala1436=) |
single nucleotide variant |
not provided [RCV000919212]|not specified [RCV000151330] |
Chr22:36292022 [GRCh38]
Chr22:36688068 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000331644]|MYH9-related disorder [RCV000276612]|not provided [RCV001850062]|not specified [RCV000151332] |
Chr22:36292033 [GRCh38]
Chr22:36688079 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.3291C>A (p.Ala1097=) |
single nucleotide variant |
not specified [RCV000151336] |
Chr22:36295699 [GRCh38]
Chr22:36691745 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2766C>G (p.Ala922=) |
single nucleotide variant |
not specified [RCV000151339] |
Chr22:36300923 [GRCh38]
Chr22:36696969 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2714G>A (p.Arg905His) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000765635]|not provided [RCV002516039]|not specified [RCV000151340] |
Chr22:36300975 [GRCh38]
Chr22:36697021 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2316G>A (p.Glu772=) |
single nucleotide variant |
not specified [RCV000151345] |
Chr22:36304069 [GRCh38]
Chr22:36700115 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1843+14C>A |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498705]|not provided [RCV002055990]|not specified [RCV000151347] |
Chr22:36309268 [GRCh38]
Chr22:36705313 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.859C>T (p.His287Tyr) |
single nucleotide variant |
not specified [RCV000151352] |
Chr22:36320807 [GRCh38]
Chr22:36716852 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.705+11C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000359491]|MYH9-related disorder [RCV000302357]|not provided [RCV001701530]|not specified [RCV000151353] |
Chr22:36322418 [GRCh38]
Chr22:36718463 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.637C>T (p.Gln213Ter) |
single nucleotide variant |
not specified [RCV000151354] |
Chr22:36322497 [GRCh38]
Chr22:36718542 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.468C>T (p.Thr156=) |
single nucleotide variant |
not provided [RCV001310801]|not specified [RCV000151356] |
Chr22:36341392 [GRCh38]
Chr22:36737437 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.437T>A (p.Met146Lys) |
single nucleotide variant |
not specified [RCV000151358] |
Chr22:36341423 [GRCh38]
Chr22:36737468 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.333+13C>T |
single nucleotide variant |
not provided [RCV003764914]|not specified [RCV000151359] |
Chr22:36348891 [GRCh38]
Chr22:36744936 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1843+12G>C |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002492604]|not provided [RCV002516349]|not specified [RCV000156835] |
Chr22:36309270 [GRCh38]
Chr22:36705315 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148987]|Focal segmental glomerulosclerosis [RCV002294054]|MYH9-related disorder [RCV001148988]|not provided [RCV000961751]|not specified [RCV000155172] |
Chr22:36282736 [GRCh38]
Chr22:36678782 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000357489]|Kidney disorder [RCV002294055]|MYH9-related disorder [RCV000265008]|not provided [RCV000900198]|not specified [RCV000155173] |
Chr22:36285872 [GRCh38]
Chr22:36681918 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5142C>T (p.Ser1714=) |
single nucleotide variant |
not provided [RCV002056075]|not specified [RCV000155174] |
Chr22:36285873 [GRCh38]
Chr22:36681919 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4932+13G>A |
single nucleotide variant |
not provided [RCV003764950]|not specified [RCV000155178] |
Chr22:36288239 [GRCh38]
Chr22:36684285 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3943-7C>A |
single nucleotide variant |
MYH9-related disorder [RCV004534986]|not provided [RCV001731400]|not specified [RCV000155181] |
Chr22:36293488 [GRCh38]
Chr22:36689534 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3216G>A (p.Ala1072=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000265835]|MYH9-related disorder [RCV000320933]|not provided [RCV000919066]|not specified [RCV000155182] |
Chr22:36296899 [GRCh38]
Chr22:36692945 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1555-12C>T |
single nucleotide variant |
not provided [RCV001610465]|not specified [RCV000155183] |
Chr22:36312234 [GRCh38]
Chr22:36708279 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1242C>T (p.Ile414=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001147374]|MYH9-related disorder [RCV001147375]|not provided [RCV000896254]|not specified [RCV000155184] |
Chr22:36316655 [GRCh38]
Chr22:36712700 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.769+15C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000393035]|MYH9-related disorder [RCV000308090]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498750]|not provided [RCV002056077]|not specified [RCV000155185] |
Chr22:36321743 [GRCh38]
Chr22:36717788 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000339441]|MYH9-related disorder [RCV000286819]|Vitelliform macular dystrophy 1 [RCV000509473]|not provided [RCV000972196]|not specified [RCV000155186] |
Chr22:36349101 [GRCh38]
Chr22:36745146 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000369754]|MYH9-related disorder [RCV000298717]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002243827]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478456]|not provided [RCV000960214]|not specified [RCV000155187] |
Chr22:36349230 [GRCh38]
Chr22:36745275 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5188C>T (p.Arg1730Cys) |
single nucleotide variant |
MYH9-related disorder [RCV004732707]|not provided [RCV001575204]|not specified [RCV000151321] |
Chr22:36285744 [GRCh38]
Chr22:36681790 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) |
single nucleotide variant |
MYH9-related disorder [RCV004532678]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483309]|not provided [RCV000727282]|not specified [RCV000151325] |
Chr22:36289086 [GRCh38]
Chr22:36685132 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498703]|not provided [RCV000894271]|not specified [RCV000151327] |
Chr22:36289163 [GRCh38]
Chr22:36685209 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000348717]|MYH9-related disorder [RCV000293752]|not provided [RCV000726552]|not specified [RCV000151329] |
Chr22:36289246 [GRCh38]
Chr22:36685292 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505154]|not provided [RCV002514913]|not specified [RCV000151331] |
Chr22:36292024 [GRCh38]
Chr22:36688070 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000386272]|MYH9-related disorder [RCV000291994]|Meniere disease [RCV004567172]|not provided [RCV000724779]|not specified [RCV000151333] |
Chr22:36292105 [GRCh38]
Chr22:36688151 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3485+8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144826]|MYH9-related disorder [RCV001144825]|not provided [RCV000890466]|not specified [RCV000151334] |
Chr22:36295497 [GRCh38]
Chr22:36691543 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000268989]|MYH9-related disorder [RCV000363597]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000990431]|not provided [RCV000767070]|not specified [RCV000151335] |
Chr22:36295650 [GRCh38]
Chr22:36691696 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2721C>T (p.Thr907=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000393134]|MYH9-related disorder [RCV000348023]|not provided [RCV000969749]|not specified [RCV000151337] |
Chr22:36300968 [GRCh38]
Chr22:36697014 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000387348]|MYH9-related disorder [RCV000293055]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002243824]|not provided [RCV000726812]|not specified [RCV000151338] |
Chr22:36300231 [GRCh38]
Chr22:36696277 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2517G>A (p.Gln839=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000354007]|MYH9-related disorder [RCV000301524]|not provided [RCV000955604]|not specified [RCV000151341] |
Chr22:36301648 [GRCh38]
Chr22:36697694 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000306348]|MYH9-related disorder [RCV000344830]|not provided [RCV001850063]|not specified [RCV000151342] |
Chr22:36301054 [GRCh38]
Chr22:36697100 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2500-14A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000261254]|MYH9-related disorder [RCV000332858]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498704]|not provided [RCV002055989]|not specified [RCV000151343] |
Chr22:36301679 [GRCh38]
Chr22:36697725 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2448C>T (p.Cys816=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000274358]|Kidney disorder [RCV002294045]|MYH9-related disorder [RCV000389770]|not provided [RCV000949865]|not specified [RCV000151344] |
Chr22:36302619 [GRCh38]
Chr22:36698665 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.2229+13G>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478430]|not provided [RCV001560621]|not specified [RCV000151346] |
Chr22:36305020 [GRCh38]
Chr22:36701066 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1626C>T (p.Phe542=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000320681]|MYH9-related disorder [RCV000286746]|not provided [RCV000844362]|not specified [RCV000151348] |
Chr22:36312151 [GRCh38]
Chr22:36708196 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1491C>T (p.Ile497=) |
single nucleotide variant |
MYH9-related disorder [RCV004532679]|not provided [RCV000727283]|not specified [RCV000151349] |
Chr22:36314208 [GRCh38]
Chr22:36710253 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.1212G>A (p.Ala404=) |
single nucleotide variant |
MYH9-related disorder [RCV004532680]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483310]|not provided [RCV002516040]|not specified [RCV000151350] |
Chr22:36318222 [GRCh38]
Chr22:36714267 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1158C>T (p.Thr386=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000357540]|MYH9-related disorder [RCV000265189]|not provided [RCV000948133]|not specified [RCV000151351] |
Chr22:36318276 [GRCh38]
Chr22:36714321 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.591G>A (p.Ser197=) |
single nucleotide variant |
MYH9-related disorder [RCV004532681]|not provided [RCV000725037]|not specified [RCV000151355] |
Chr22:36326589 [GRCh38]
Chr22:36722634 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.491-7G>A |
single nucleotide variant |
MYH9-related disorder [RCV004532682]|not provided [RCV002055991]|not specified [RCV000151357] |
Chr22:36327495 [GRCh38]
Chr22:36723540 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478455]|not provided [RCV001562410]|not specified [RCV000155175] |
Chr22:36286730 [GRCh38]
Chr22:36682776 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000322530]|MYH9-related disorder [RCV000379501]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505171]|not provided [RCV001576868]|not specified [RCV000155176] |
Chr22:36286769 [GRCh38]
Chr22:36682815 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144527]|MYH9-related disorder [RCV001144526]|not provided [RCV000885525]|not specified [RCV000155177] |
Chr22:36286823 [GRCh38]
Chr22:36682869 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000314016]|MYH9-related disorder [RCV000406494]|not provided [RCV000724778]|not specified [RCV000155179] |
Chr22:36288306 [GRCh38]
Chr22:36684352 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4831G>A (p.Ala1611Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004019857]|not provided [RCV002056076]|not specified [RCV000155180] |
Chr22:36288353 [GRCh38]
Chr22:36684399 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val) |
single nucleotide variant |
MYH9-related disorder [RCV000790360]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000192270] |
Chr22:36291990 [GRCh38]
Chr22:36688036 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic|not provided |
| NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000266596]|MYH9-related disorder [RCV000361326]|not provided [RCV000726429]|not specified [RCV000350880] |
Chr22:36288366 [GRCh38]
Chr22:36684412 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1 |
copy number loss |
See cases [RCV000207444] |
Chr22:35680095..38098981 [GRCh37]
Chr22:22q12.3-13.1 |
pathogenic |
| NM_002473.6(MYH9):c.4971C>G (p.Thr1657=) |
single nucleotide variant |
not provided [RCV002057117]|not specified [RCV000221893] |
Chr22:36286808 [GRCh38]
Chr22:36682854 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.928A>G (p.Ile310Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494570]|not provided [RCV002273992]|not specified [RCV000217070] |
Chr22:36320304 [GRCh38]
Chr22:36716349 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5181G>A (p.Leu1727=) |
single nucleotide variant |
not provided [RCV000882783]|not specified [RCV000217328] |
Chr22:36285751 [GRCh38]
Chr22:36681797 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.4095+15G>A |
single nucleotide variant |
not specified [RCV000222120] |
Chr22:36293314 [GRCh38]
Chr22:36689360 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3697G>A (p.Val1233Met) |
single nucleotide variant |
not provided [RCV001576607]|not specified [RCV000213533] |
Chr22:36294232 [GRCh38]
Chr22:36690278 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2989C>T (p.Leu997=) |
single nucleotide variant |
not provided [RCV000841209]|not specified [RCV000220096] |
Chr22:36299030 [GRCh38]
Chr22:36695076 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.18C>T (p.Ala6=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000338428]|MYH9-related disorder [RCV000406587]|not provided [RCV000910530]|not specified [RCV000213651] |
Chr22:36349219 [GRCh38]
Chr22:36745264 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.3214G>A (p.Ala1072Thr) |
single nucleotide variant |
MYH9-related disorder [RCV004530301]|not provided [RCV001561991]|not specified [RCV000213761] |
Chr22:36296901 [GRCh38]
Chr22:36692947 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4023C>T (p.Phe1341=) |
single nucleotide variant |
not provided [RCV003221865]|not specified [RCV000217825] |
Chr22:36293401 [GRCh38]
Chr22:36689447 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1722C>T (p.Ala574=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148194]|MYH9-related disorder [RCV001148195]|not provided [RCV002519609]|not specified [RCV000220323] |
Chr22:36312055 [GRCh38]
Chr22:36708100 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5490C>T (p.Arg1830=) |
single nucleotide variant |
MYH9-related disorder [RCV004530303]|not specified [RCV000215587] |
Chr22:36284505 [GRCh38]
Chr22:36680551 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500697]|not provided [RCV000895184]|not specified [RCV000218062] |
Chr22:36296860 [GRCh38]
Chr22:36692906 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1890C>T (p.Thr630=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001147290]|MYH9-related disorder [RCV001147291]|not provided [RCV002517482]|not specified [RCV000213996] |
Chr22:36306561 [GRCh38]
Chr22:36702607 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5225_5239del (p.Gln1742_Glu1746del) |
deletion |
not specified [RCV000214062] |
Chr22:36285693..36285707 [GRCh38]
Chr22:36681739..36681753 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2565G>A (p.Val855=) |
single nucleotide variant |
not provided [RCV000924607]|not specified [RCV000215813] |
Chr22:36301600 [GRCh38]
Chr22:36697646 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1176G>A (p.Pro392=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000323893]|MYH9-related disorder [RCV000266385]|not provided [RCV001549617]|not specified [RCV000220606] |
Chr22:36318258 [GRCh38]
Chr22:36714303 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.3903G>C (p.Lys1301Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002517570]|not provided [RCV003727637]|not specified [RCV000220609] |
Chr22:36293798 [GRCh38]
Chr22:36689844 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1177C>T (p.Arg393Cys) |
single nucleotide variant |
not provided [RCV000722213] |
Chr22:36318257 [GRCh38]
Chr22:36714302 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2159+6C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002485394]|not provided [RCV002517569]|not specified [RCV000222539] |
Chr22:36305924 [GRCh38]
Chr22:36701970 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150836]|MYH9-related disorder [RCV001150837]|not provided [RCV001555721]|not specified [RCV000216020] |
Chr22:36292083 [GRCh38]
Chr22:36688129 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1587C>T (p.Asp529=) |
single nucleotide variant |
not provided [RCV002517481]|not specified [RCV000216040] |
Chr22:36312190 [GRCh38]
Chr22:36708235 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.705+14C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000405481]|MYH9-related disorder [RCV000360582]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494559]|not provided [RCV002057118]|not specified [RCV000218466] |
Chr22:36322415 [GRCh38]
Chr22:36718460 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.519-6T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001145645]|MYH9-related disorder [RCV001145644]|not provided [RCV001589133]|not specified [RCV000220999] |
Chr22:36326667 [GRCh38]
Chr22:36722712 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.888G>A (p.Pro296=) |
single nucleotide variant |
MYH9-related disorder [RCV004530304]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503845]|not provided [RCV000891855]|not specified [RCV000222726] |
Chr22:36320344 [GRCh38]
Chr22:36716389 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4344+10C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000356052]|MYH9-related disorder [RCV000261215]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503844]|not provided [RCV000881831]|not specified [RCV000214641] |
Chr22:36291976 [GRCh38]
Chr22:36688022 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5592+11T>C |
single nucleotide variant |
not specified [RCV000218710] |
Chr22:36284392 [GRCh38]
Chr22:36680438 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000278106]|MYH9-related disorder [RCV000392722]|not specified [RCV000221175] |
Chr22:36295001 [GRCh38]
Chr22:36691047 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503857]|not provided [RCV001770164]|not specified [RCV000222927] |
Chr22:36293374 [GRCh38]
Chr22:36689420 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5832C>T (p.Asp1944=) |
single nucleotide variant |
not provided [RCV002517483]|not specified [RCV000222964] |
Chr22:36282719 [GRCh38]
Chr22:36678765 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1380T>C (p.Asp460=) |
single nucleotide variant |
not provided [RCV003660767]|not specified [RCV000218903] |
Chr22:36316517 [GRCh38]
Chr22:36712562 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4653C>T (p.Thr1551=) |
single nucleotide variant |
MYH9-related disorder [RCV004530302]|not provided [RCV000839956]|not specified [RCV000218953] |
Chr22:36288844 [GRCh38]
Chr22:36684890 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.615C>T (p.Gly205=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001145531]|MYH9-related disorder [RCV001145532]|not provided [RCV000843507]|not specified [RCV000216657] |
Chr22:36322519 [GRCh38]
Chr22:36718564 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*8C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000367215]|MYH9-related disorder [RCV000310238]|not provided [RCV001589132]|not specified [RCV000215226] |
Chr22:36282660 [GRCh38]
Chr22:36678706 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4598A>G (p.Gln1533Arg) |
single nucleotide variant |
not specified [RCV000216927] |
Chr22:36288899 [GRCh38]
Chr22:36684945 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q12.3(chr22:36623928-36677639)x3 |
copy number gain |
See cases [RCV000239870] |
Chr22:36623928..36677639 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del) |
microsatellite |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000626302] |
Chr22:36288742..36288744 [GRCh38]
Chr22:36684788..36684790 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 |
copy number gain |
See cases [RCV000240091] |
Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.1468GAG[1] (p.Glu491del) |
microsatellite |
not specified [RCV000600365] |
Chr22:36314226..36314228 [GRCh38]
Chr22:36710271..36710273 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5766-5C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150501]|MYH9-related disorder [RCV001150500]|not provided [RCV000924999]|not specified [RCV000248551] |
Chr22:36282790 [GRCh38]
Chr22:36678836 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2037+43G>T |
single nucleotide variant |
not specified [RCV000250949] |
Chr22:36306371 [GRCh38]
Chr22:36702417 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1344C>T (p.Ile448=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000403087]|MYH9-related disorder [RCV000365289]|not provided [RCV001589255]|not specified [RCV000253361] |
Chr22:36316553 [GRCh38]
Chr22:36712598 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1228-16C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487126]|not provided [RCV002058118]|not specified [RCV000243824] |
Chr22:36316685 [GRCh38]
Chr22:36712730 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.769+15C>G |
single nucleotide variant |
not provided [RCV003708507]|not specified [RCV000246236] |
Chr22:36321743 [GRCh38]
Chr22:36717788 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.645C>T (p.Asn215=) |
single nucleotide variant |
not provided [RCV002519913]|not specified [RCV000246348] |
Chr22:36322489 [GRCh38]
Chr22:36718534 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3101-5T>C |
single nucleotide variant |
not provided [RCV003546495]|not specified [RCV000246434] |
Chr22:36297019 [GRCh38]
Chr22:36693065 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1728+37_1728+44del |
deletion |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001778857]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778858]|not provided [RCV000842923]|not specified [RCV000251245] |
Chr22:36312005..36312012 [GRCh38]
Chr22:36708050..36708057 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.705+15G>A |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494739]|not provided [RCV002518621]|not specified [RCV000251266] |
Chr22:36322414 [GRCh38]
Chr22:36718459 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3876C>T (p.Ser1292=) |
single nucleotide variant |
Inborn genetic diseases [RCV004649112]|not provided [RCV002225560]|not specified [RCV000251307] |
Chr22:36293825 [GRCh38]
Chr22:36689871 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+7C>T |
single nucleotide variant |
not provided [RCV003765519]|not specified [RCV000253710] |
Chr22:36284086 [GRCh38]
Chr22:36680132 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1149C>T (p.Thr383=) |
single nucleotide variant |
not provided [RCV001534886]|not specified [RCV000244129] |
Chr22:36318285 [GRCh38]
Chr22:36714330 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.518+23A>G |
single nucleotide variant |
not provided [RCV001589257]|not specified [RCV000246590] |
Chr22:36327438 [GRCh38]
Chr22:36723483 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.450C>T (p.Ile150=) |
single nucleotide variant |
not provided [RCV002058120]|not specified [RCV000253929] |
Chr22:36341410 [GRCh38]
Chr22:36737455 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144411]|MYH9-related disorder [RCV001144412]|not provided [RCV000885524]|not specified [RCV000244171] |
Chr22:36284149 [GRCh38]
Chr22:36680195 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2808G>A (p.Ala936=) |
single nucleotide variant |
Kidney disorder [RCV002294133]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503938]|not provided [RCV002518620]|not specified [RCV000251687] |
Chr22:36300881 [GRCh38]
Chr22:36696927 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.3837+25C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001778859]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001778860]|not provided [RCV001610627]|not specified [RCV000246911] |
Chr22:36294067 [GRCh38]
Chr22:36690113 [GRCh37]
Chr22:22q12.3 |
benign |
| GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 |
copy number gain |
See cases [RCV000240469] |
Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.3272+11C>T |
single nucleotide variant |
not provided [RCV002058119]|not specified [RCV000254336] |
Chr22:36296832 [GRCh38]
Chr22:36692878 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3837+18A>G |
single nucleotide variant |
not provided [RCV000842772]|not specified [RCV000242324] |
Chr22:36294074 [GRCh38]
Chr22:36690120 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2205C>T (p.Asp735=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000402946]|MYH9-related disorder [RCV000296989]|not provided [RCV003765517]|not specified [RCV000242446] |
Chr22:36305057 [GRCh38]
Chr22:36701103 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2160-37A>T |
single nucleotide variant |
not specified [RCV000252287] |
Chr22:36305139 [GRCh38]
Chr22:36701185 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2159+39C>A |
single nucleotide variant |
not provided [RCV001610626]|not specified [RCV000247520] |
Chr22:36305891 [GRCh38]
Chr22:36701937 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1108+38G>A |
single nucleotide variant |
not provided [RCV004703533]|not specified [RCV000247588] |
Chr22:36319502 [GRCh38]
Chr22:36715547 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5136C>T (p.Asn1712=) |
single nucleotide variant |
not provided [RCV003765518]|not specified [RCV000249920] |
Chr22:36285879 [GRCh38]
Chr22:36681925 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1108+19C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500895]|not provided [RCV001683033]|not specified [RCV000242762] |
Chr22:36319521 [GRCh38]
Chr22:36715566 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.720C>T (p.Arg240=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500897]|not provided [RCV000827578]|not specified [RCV000242833] |
Chr22:36321807 [GRCh38]
Chr22:36717852 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5484-36G>A |
single nucleotide variant |
not specified [RCV000247608] |
Chr22:36284547 [GRCh38]
Chr22:36680593 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5277C>T (p.Ile1759=) |
single nucleotide variant |
Inborn genetic diseases [RCV004021008]|not provided [RCV000882879]|not specified [RCV000247728] |
Chr22:36285327 [GRCh38]
Chr22:36681373 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5061+30C>T |
single nucleotide variant |
not provided [RCV001689836]|not specified [RCV000245364] |
Chr22:36286688 [GRCh38]
Chr22:36682734 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3837+37G>A |
single nucleotide variant |
not provided [RCV001569353]|not specified [RCV000250241] |
Chr22:36294055 [GRCh38]
Chr22:36690101 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3486-32G>A |
single nucleotide variant |
not specified [RCV000250325] |
Chr22:36295108 [GRCh38]
Chr22:36691154 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.543G>A (p.Thr181=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000275864]|MYH9-related disorder [RCV000354263]|not provided [RCV000963405]|not specified [RCV000252678] |
Chr22:36326637 [GRCh38]
Chr22:36722682 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1728+47G>T |
single nucleotide variant |
not provided [RCV001558747]|not specified [RCV000243053] |
Chr22:36312002 [GRCh38]
Chr22:36708047 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5247C>T (p.Asn1749=) |
single nucleotide variant |
not provided [RCV002519912]|not specified [RCV000243139] |
Chr22:36285685 [GRCh38]
Chr22:36681731 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4276C>T (p.Leu1426=) |
single nucleotide variant |
not provided [RCV000918567]|not specified [RCV000252847] |
Chr22:36292054 [GRCh38]
Chr22:36688100 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2871C>T (p.Ser957=) |
single nucleotide variant |
not provided [RCV000725873]|not specified [RCV000243282] |
Chr22:36300232 [GRCh38]
Chr22:36696278 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3942+11C>T |
single nucleotide variant |
not specified [RCV000243327] |
Chr22:36293748 [GRCh38]
Chr22:36689794 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3486-31G>C |
single nucleotide variant |
not provided [RCV001589256]|not specified [RCV000245804] |
Chr22:36295107 [GRCh38]
Chr22:36691153 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5817C>T (p.Ala1939=) |
single nucleotide variant |
not provided [RCV002225561]|not specified [RCV000248142] |
Chr22:36282734 [GRCh38]
Chr22:36678780 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2977-35C>G |
single nucleotide variant |
not provided [RCV001711809]|not specified [RCV000248229] |
Chr22:36299077 [GRCh38]
Chr22:36695123 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.165C>T (p.Ile55=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500896]|not provided [RCV000712366]|not specified [RCV000253083] |
Chr22:36349072 [GRCh38]
Chr22:36745117 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.613-32C>T |
single nucleotide variant |
not specified [RCV000253121] |
Chr22:36322553 [GRCh38]
Chr22:36718598 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3273-25C>T |
single nucleotide variant |
not specified [RCV000245938] |
Chr22:36295742 [GRCh38]
Chr22:36691788 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.769+30C>A |
single nucleotide variant |
not specified [RCV000250778] |
Chr22:36321728 [GRCh38]
Chr22:36717773 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.*312C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000358656]|MYH9-related disorder [RCV000266279]|not provided [RCV001698765] |
Chr22:36282356 [GRCh38]
Chr22:36678402 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4348C>T (p.Leu1450=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000304641]|MYH9-related disorder [RCV000359415]|not provided [RCV002523219] |
Chr22:36289294 [GRCh38]
Chr22:36685340 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000271817]|MYH9-related disorder [RCV000326885]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002480197]|not provided [RCV002523221] |
Chr22:36294252 [GRCh38]
Chr22:36690298 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.*1314C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000366504]|MYH9-related disorder [RCV000274254]|not provided [RCV004713781] |
Chr22:36281354 [GRCh38]
Chr22:36677400 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000332477]|MYH9-related disorder [RCV000275008]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502312]|not provided [RCV000880945]|not specified [RCV000607530] |
Chr22:36282674 [GRCh38]
Chr22:36678720 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*596G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000294046]|MYH9-related disorder [RCV000385937]|not provided [RCV001718724] |
Chr22:36282072 [GRCh38]
Chr22:36678118 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.*800T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000259642]|MYH9-related disorder [RCV000370334]|not provided [RCV004713782] |
Chr22:36281868 [GRCh38]
Chr22:36677914 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1098C>T (p.Pro366=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000388514]|MYH9-related disorder [RCV000296755]|not provided [RCV001570097] |
Chr22:36319550 [GRCh38]
Chr22:36715595 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.*474C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000297726]|MYH9-related disorder [RCV000336344]|not provided [RCV003437086] |
Chr22:36282194 [GRCh38]
Chr22:36678240 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.132C>T (p.Ala44=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000407910]|MYH9-related disorder [RCV000299680]|not provided [RCV002524454]|not specified [RCV000825781] |
Chr22:36349105 [GRCh38]
Chr22:36745150 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.-153C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000368737]|MYH9-related disorder [RCV000270144] |
Chr22:36387940 [GRCh38]
Chr22:36783985 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5717C>T (p.Thr1906Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000343175]|MYH9-related disorder [RCV000392449]|not provided [RCV003727702] |
Chr22:36284141 [GRCh38]
Chr22:36680187 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.*243C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000269732]|MYH9-related disorder [RCV000327078]|not provided [RCV001568097] |
Chr22:36282425 [GRCh38]
Chr22:36678471 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1188G>A (p.Val396=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000306419]|MYH9-related disorder [RCV000363389] |
Chr22:36318246 [GRCh38]
Chr22:36714291 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.*81C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000306640]|MYH9-related disorder [RCV000404581]|not provided [RCV001561985] |
Chr22:36282587 [GRCh38]
Chr22:36678633 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4830C>T (p.Ala1610=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000307029]|MYH9-related disorder [RCV000270577]|not provided [RCV003765977] |
Chr22:36288354 [GRCh38]
Chr22:36684400 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.5(MYH9):c.-182G>T |
single nucleotide variant |
MYH9-related disorder [RCV000271148]|Nonsyndromic Hearing Loss, Dominant [RCV000321606] |
Chr22:36387969 [GRCh38]
Chr22:36784014 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*238G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000273194]|MYH9-related disorder [RCV000383986]|not provided [RCV001653655] |
Chr22:36282430 [GRCh38]
Chr22:36678476 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000308851]|Inborn genetic diseases [RCV004649134]|MYH9-related disorder [RCV000405444]|not provided [RCV001355046] |
Chr22:36289251 [GRCh38]
Chr22:36685297 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.*906G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000367280]|MYH9-related disorder [RCV000310288] |
Chr22:36281762 [GRCh38]
Chr22:36677808 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.420C>T (p.Gly140=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000274628]|MYH9-related disorder [RCV000327316] |
Chr22:36341440 [GRCh38]
Chr22:36737485 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1899C>T (p.Pro633=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000327727]|MYH9-related disorder [RCV000274977]|not provided [RCV003736735] |
Chr22:36306552 [GRCh38]
Chr22:36702598 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3371G>A (p.Arg1124His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000367303]|MYH9-related disorder [RCV000312584] |
Chr22:36295619 [GRCh38]
Chr22:36691665 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1479G>A (p.Gln493=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000312932]|MYH9-related disorder [RCV000392545]|not provided [RCV000726650] |
Chr22:36314220 [GRCh38]
Chr22:36710265 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.*74G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000363559]|MYH9-related disorder [RCV000271375] |
Chr22:36282594 [GRCh38]
Chr22:36678640 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3838-11G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000369861]|MYH9-related disorder [RCV000275172]|not provided [RCV002523220] |
Chr22:36293874 [GRCh38]
Chr22:36689920 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1566G>A (p.Pro522=) |
single nucleotide variant |
MYH9-related disorder [RCV004535390]|not provided [RCV000726041]|not specified [RCV000311142] |
Chr22:36312211 [GRCh38]
Chr22:36708256 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5271G>T (p.Leu1757=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000261364]|MYH9-related disorder [RCV000318892] |
Chr22:36285661 [GRCh38]
Chr22:36681707 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.-19-7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000277603]|MYH9-related disorder [RCV000311678]|not provided [RCV000611560] |
Chr22:36349262 [GRCh38]
Chr22:36745307 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*748A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000355567]|MYH9-related disorder [RCV000317200] |
Chr22:36281920 [GRCh38]
Chr22:36677966 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000375903]|MYH9-related disorder [RCV000319014]|not provided [RCV003727704] |
Chr22:36318284 [GRCh38]
Chr22:36714329 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000394413]|Inborn genetic diseases [RCV002523218]|MYH9-related disorder [RCV000368697]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000787013]|not provided [RCV001590995] |
Chr22:36285148 [GRCh38]
Chr22:36681194 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.*137C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000280058]|MYH9-related disorder [RCV000372261]|not provided [RCV001653656] |
Chr22:36282531 [GRCh38]
Chr22:36678577 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.*1160del |
deletion |
MYH9-related disorder [RCV000373218]|Nonsyndromic Hearing Loss, Dominant [RCV000281011] |
Chr22:36281508 [GRCh38]
Chr22:36677554 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000337020]|MYH9-related disorder [RCV000281921]|not provided [RCV001532465] |
Chr22:36294957 [GRCh38]
Chr22:36691003 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1578C>G (p.Ala526=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000282266]|MYH9-related disorder [RCV000374426]|not provided [RCV002057802] |
Chr22:36312199 [GRCh38]
Chr22:36708244 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3606G>A (p.Ala1202=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000321760]|MYH9-related disorder [RCV000376363]|not provided [RCV000944055] |
Chr22:36294956 [GRCh38]
Chr22:36691002 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*539G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000406102]|MYH9-related disorder [RCV000351544]|not provided [RCV004694676] |
Chr22:36282129 [GRCh38]
Chr22:36678175 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4955G>A (p.Arg1652His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000378271]|MYH9-related disorder [RCV000283777]|not provided [RCV002524453] |
Chr22:36286824 [GRCh38]
Chr22:36682870 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.*1026C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000341631]|MYH9-related disorder [RCV000284305] |
Chr22:36281642 [GRCh38]
Chr22:36677688 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000360226]|MYH9-related disorder [RCV000324164]|not provided [RCV002057800]|not specified [RCV001449723] |
Chr22:36295670 [GRCh38]
Chr22:36691716 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.4654G>A (p.Glu1552Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000263189]|MYH9-related disorder [RCV000318391] |
Chr22:36288843 [GRCh38]
Chr22:36684889 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4474A>G (p.Lys1492Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000388129]|MYH9-related disorder [RCV000352278] |
Chr22:36289168 [GRCh38]
Chr22:36685214 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000408217]|MYH9-related disorder [RCV000285049]|not provided [RCV000997915] |
Chr22:36293399 [GRCh38]
Chr22:36689445 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.5(MYH9):c.-201G>A |
single nucleotide variant |
MYH9-related disorder [RCV000376128]|Nonsyndromic Hearing Loss, Dominant [RCV000286280] |
Chr22:36387988 [GRCh38]
Chr22:36784033 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+9C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000377498]|MYH9-related disorder [RCV000285458]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502313]|not provided [RCV002523217] |
Chr22:36284084 [GRCh38]
Chr22:36680130 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*1329C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000395239]|MYH9-related disorder [RCV000309539]|not provided [RCV002263620] |
Chr22:36281339 [GRCh38]
Chr22:36677385 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4972C>T (p.Arg1658Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000323686]|MYH9-related disorder [RCV000287421] |
Chr22:36286807 [GRCh38]
Chr22:36682853 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.4126A>G (p.Ser1376Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000287475]|MYH9-related disorder [RCV000342403] |
Chr22:36292204 [GRCh38]
Chr22:36688250 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.318C>T (p.Tyr106=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000384622]|MYH9-related disorder [RCV000287921]|not provided [RCV002520044] |
Chr22:36348919 [GRCh38]
Chr22:36744964 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.*1204A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000331551]|MYH9-related disorder [RCV000369936] |
Chr22:36281464 [GRCh38]
Chr22:36677510 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.*645C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000347692]|MYH9-related disorder [RCV000290371] |
Chr22:36282023 [GRCh38]
Chr22:36678069 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.933C>T (p.Pro311=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000347772]|MYH9-related disorder [RCV000290446]|not provided [RCV000896418] |
Chr22:36320299 [GRCh38]
Chr22:36716344 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5593-14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000289396]|MYH9-related disorder [RCV000346764]|not provided [RCV003765976] |
Chr22:36284279 [GRCh38]
Chr22:36680325 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.519-10del |
deletion |
MYH9-related disorder [RCV000385418]|Nonsyndromic Hearing Loss, Dominant [RCV000333213] |
Chr22:36326671 [GRCh38]
Chr22:36722716 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2295C>T (p.Ala765=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000344218]|MYH9-related disorder [RCV000291564]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502314]|not provided [RCV000842367]|not specified [RCV000603845] |
Chr22:36304090 [GRCh38]
Chr22:36700136 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*136C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000403775]|MYH9-related disorder [RCV000337189]|not provided [RCV001707666] |
Chr22:36282532 [GRCh38]
Chr22:36678578 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.*802T>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000313299]|MYH9-related disorder [RCV000394216] |
Chr22:36281866 [GRCh38]
Chr22:36677912 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.*193C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000352444]|MYH9-related disorder [RCV000295275] |
Chr22:36282475 [GRCh38]
Chr22:36678521 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.*1193A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000316402]|MYH9-related disorder [RCV000277759] |
Chr22:36281475 [GRCh38]
Chr22:36677521 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2230-11C>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000343256]|MYH9-related disorder [RCV000408043] |
Chr22:36304166 [GRCh38]
Chr22:36700212 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4305C>T (p.Ser1435=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000389572]|MYH9-related disorder [RCV000316358] |
Chr22:36292025 [GRCh38]
Chr22:36688071 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.2598C>G (p.Asn866Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000359728]|Inborn genetic diseases [RCV002523222]|MYH9-related disorder [RCV000262620]|not provided [RCV001753803] |
Chr22:36301567 [GRCh38]
Chr22:36697613 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.585G>A (p.Ala195=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000263004]|MYH9-related disorder [RCV000315837]|not provided [RCV002523223] |
Chr22:36326595 [GRCh38]
Chr22:36722640 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.*732C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000320604]|MYH9-related disorder [RCV000263047]|not provided [RCV001618605] |
Chr22:36281936 [GRCh38]
Chr22:36677982 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.*329C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000301426]|MYH9-related disorder [RCV000402997] |
Chr22:36282339 [GRCh38]
Chr22:36678385 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4359G>A (p.Glu1453=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000404643]|MYH9-related disorder [RCV000345140]|not provided [RCV000894744] |
Chr22:36289283 [GRCh38]
Chr22:36685329 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.233C>T (p.Pro78Leu) |
single nucleotide variant |
MYH9-related disorder [RCV000378918]|Nonsyndromic Hearing Loss, Dominant [RCV000345258]|not provided [RCV003765978] |
Chr22:36349004 [GRCh38]
Chr22:36745049 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000403021]|MYH9-related disorder [RCV000339937]|not provided [RCV003727703]|not specified [RCV000615651] |
Chr22:36293786 [GRCh38]
Chr22:36689832 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4345-11C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000264559]|MYH9-related disorder [RCV000300978]|not provided [RCV001566201] |
Chr22:36289308 [GRCh38]
Chr22:36685354 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2226C>T (p.Leu742=) |
single nucleotide variant |
MYH9-related disorder [RCV000303016]|Nonsyndromic Hearing Loss, Dominant [RCV000336925] |
Chr22:36305036 [GRCh38]
Chr22:36701082 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4150G>C (p.Glu1384Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003447522]|not provided [RCV000332817] |
Chr22:36292180 [GRCh38]
Chr22:36688226 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*686C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000268227]|MYH9-related disorder [RCV000379152]|not provided [RCV001778933] |
Chr22:36281982 [GRCh38]
Chr22:36678028 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*261G>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000303921]|MYH9-related disorder [RCV000361016]|not provided [RCV001672612] |
Chr22:36282407 [GRCh38]
Chr22:36678453 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2632-8_2632-6del |
microsatellite |
MYH9-related disorder [RCV000404142]|Nonsyndromic Hearing Loss, Dominant [RCV000305104]|not provided [RCV002057801] |
Chr22:36301063..36301065 [GRCh38]
Chr22:36697109..36697111 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3213C>T (p.Ile1071=) |
single nucleotide variant |
MYH9-related disorder [RCV004543097]|not provided [RCV000334598] |
Chr22:36296902 [GRCh38]
Chr22:36692948 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4298G>A (p.Arg1433His) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483561]|not provided [RCV000584865] |
Chr22:36292032 [GRCh38]
Chr22:36688078 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val) |
single nucleotide variant |
not provided [RCV002285959] |
Chr22:36289236 [GRCh38]
Chr22:36685282 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.32_33del (p.Tyr11fs) |
deletion |
not provided [RCV000585195] |
Chr22:36349204..36349205 [GRCh38]
Chr22:36745249..36745250 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.1228-256T>C |
single nucleotide variant |
not provided [RCV001564183] |
Chr22:36316925 [GRCh38]
Chr22:36712970 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5354G>T (p.Arg1785Leu) |
single nucleotide variant |
MYH9-related disorder [RCV004540029]|not provided [RCV000723116] |
Chr22:36285250 [GRCh38]
Chr22:36681296 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.518+151G>C |
single nucleotide variant |
not provided [RCV001547499] |
Chr22:36327310 [GRCh38]
Chr22:36723355 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4249C>T (p.Arg1417Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280937] |
Chr22:36292081 [GRCh38]
Chr22:36688127 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.3694G>A (p.Glu1232Lys) |
single nucleotide variant |
not provided [RCV000722495] |
Chr22:36294235 [GRCh38]
Chr22:36690281 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*107A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000340801]|MYH9-related disorder [RCV000302322] |
Chr22:36282561 [GRCh38]
Chr22:36678607 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*198dup |
duplication |
MYH9-related disorder [RCV000330467]|Nonsyndromic Hearing Loss, Dominant [RCV000387346] |
Chr22:36282469..36282470 [GRCh38]
Chr22:36678515..36678516 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*975A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000390551]|MYH9-related disorder [RCV000345269] |
Chr22:36281693 [GRCh38]
Chr22:36677739 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2391-7C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000383653]|MYH9-related disorder [RCV000331470] |
Chr22:36302683 [GRCh38]
Chr22:36698729 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3136C>G (p.Leu1046Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000317573]|MYH9-related disorder [RCV000372267] |
Chr22:36296979 [GRCh38]
Chr22:36693025 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1539C>A (p.Asp513Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000295267]|MYH9-related disorder [RCV000352451] |
Chr22:36314160 [GRCh38]
Chr22:36710205 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*1099A>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000319739]|MYH9-related disorder [RCV000376731] |
Chr22:36281569 [GRCh38]
Chr22:36677615 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.5(MYH9):c.*1394C>T |
single nucleotide variant |
MYH9-related disorder [RCV000397098]|Nonsyndromic Hearing Loss, Dominant [RCV000368226] |
Chr22:36281274 [GRCh38]
Chr22:36677320 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp) |
single nucleotide variant |
not provided [RCV000597934] |
Chr22:36293400 [GRCh38]
Chr22:36689446 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3638C>G (p.Ala1213Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000287071]|MYH9-related disorder [RCV000381419]|not provided [RCV002520043] |
Chr22:36294291 [GRCh38]
Chr22:36690337 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.*978A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000402932]|MYH9-related disorder [RCV000287763] |
Chr22:36281690 [GRCh38]
Chr22:36677736 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.-163C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000325174]|MYH9-related disorder [RCV000384380] |
Chr22:36387950 [GRCh38]
Chr22:36783995 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*656T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000382654]|MYH9-related disorder [RCV000325752] |
Chr22:36282012 [GRCh38]
Chr22:36678058 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3884A>G (p.Lys1295Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV000354932]|MYH9-related disorder [RCV000300109] |
Chr22:36293817 [GRCh38]
Chr22:36689863 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.5(MYH9):c.*1399C>T |
single nucleotide variant |
MYH9-related disorder [RCV000299539]|Nonsyndromic Hearing Loss, Dominant [RCV000397127] |
Chr22:36281269 [GRCh38]
Chr22:36677315 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) |
single nucleotide variant |
Glomerulonephritis [RCV001195704]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483612]|not provided [RCV000592360] |
Chr22:36285747 [GRCh38]
Chr22:36681793 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4303A>G (p.Ser1435Gly) |
single nucleotide variant |
not provided [RCV000730503] |
Chr22:36292027 [GRCh38]
Chr22:36688073 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4332G>A (p.Lys1444=) |
single nucleotide variant |
MYH9-related disorder [RCV004543394]|not provided [RCV000598601] |
Chr22:36291998 [GRCh38]
Chr22:36688044 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2907C>T (p.Thr969=) |
single nucleotide variant |
MYH9-related disorder [RCV004530708]|not provided [RCV000593235] |
Chr22:36300196 [GRCh38]
Chr22:36696242 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002497249]|not provided [RCV000598425] |
Chr22:36288833 [GRCh38]
Chr22:36684879 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2679C>A (p.Thr893=) |
single nucleotide variant |
not provided [RCV000593507]|not specified [RCV001821722] |
Chr22:36301010 [GRCh38]
Chr22:36697056 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3876C>A (p.Ser1292=) |
single nucleotide variant |
not specified [RCV000603611] |
Chr22:36293825 [GRCh38]
Chr22:36689871 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.679G>A (p.Val227Met) |
single nucleotide variant |
not specified [RCV000414478] |
Chr22:36322455 [GRCh38]
Chr22:36718500 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501910]|not provided [RCV001565499] |
Chr22:36293345 [GRCh38]
Chr22:36689391 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5081G>A (p.Arg1694His) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000735682]|not provided [RCV002245632] |
Chr22:36285934 [GRCh38]
Chr22:36681980 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4261G>A (p.Glu1421Lys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000735759] |
Chr22:36292069 [GRCh38]
Chr22:36688115 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5174G>A (p.Arg1725Gln) |
single nucleotide variant |
not provided [RCV000734055] |
Chr22:36285758 [GRCh38]
Chr22:36681804 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5175G>A (p.Arg1725=) |
single nucleotide variant |
not provided [RCV000734056] |
Chr22:36285757 [GRCh38]
Chr22:36681803 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.108C>T (p.Ser36=) |
single nucleotide variant |
not provided [RCV000734683] |
Chr22:36349129 [GRCh38]
Chr22:36745174 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4262A>C (p.Glu1421Ala) |
single nucleotide variant |
MYH9-related disorder [RCV000790344]|Macrothrombocytopenia [RCV000852125] |
Chr22:36292068 [GRCh38]
Chr22:36688114 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1492G>A (p.Glu498Lys) |
single nucleotide variant |
not provided [RCV000722990] |
Chr22:36314207 [GRCh38]
Chr22:36710252 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5137A>G (p.Ser1713Gly) |
single nucleotide variant |
Hearing loss, autosomal recessive [RCV000454246] |
Chr22:36285878 [GRCh38]
Chr22:36681924 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 |
copy number gain |
See cases [RCV000446956] |
Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001145337]|MYH9-related disorder [RCV001145336]|not provided [RCV000425185] |
Chr22:36306048 [GRCh38]
Chr22:36702094 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.122T>C (p.Phe41Ser) |
single nucleotide variant |
MYH9-related disorder [RCV000790339]|not provided [RCV000424167] |
Chr22:36349115 [GRCh38]
Chr22:36745160 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 22q12.3(chr22:36614412-36716248)x3 |
copy number gain |
See cases [RCV000448104] |
Chr22:36614412..36716248 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 |
copy number gain |
See cases [RCV000448847] |
Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q12.3(chr22:36623928-36677580)x3 |
copy number gain |
See cases [RCV000447827] |
Chr22:36623928..36677580 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4679T>G (p.Val1560Gly) |
single nucleotide variant |
MYH9-related disorder [RCV004722818]|not provided [RCV000483533]|not specified [RCV001821395] |
Chr22:36288818 [GRCh38]
Chr22:36684864 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5563C>T (p.Arg1855Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000509305] |
Chr22:36284432 [GRCh38]
Chr22:36680478 [GRCh37]
Chr22:22q12.3 |
not provided |
| NM_002473.6(MYH9):c.467C>G (p.Thr156Ser) |
single nucleotide variant |
not specified [RCV000502575] |
Chr22:36341393 [GRCh38]
Chr22:36737438 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5275-7_5275-5del |
microsatellite |
MYH9-related disorder [RCV004535630]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000505677]|not provided [RCV003660810] |
Chr22:36285334..36285336 [GRCh38]
Chr22:36681380..36681382 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4022T>C (p.Phe1341Ser) |
single nucleotide variant |
not provided [RCV000494660] |
Chr22:36293402 [GRCh38]
Chr22:36689448 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) |
copy number gain |
See cases [RCV000510873] |
Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.5339G>A (p.Arg1780Gln) |
single nucleotide variant |
not provided [RCV003313626] |
Chr22:36285265 [GRCh38]
Chr22:36681311 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5130C>T (p.Ile1710=) |
single nucleotide variant |
not provided [RCV003558451]|not specified [RCV000599918] |
Chr22:36285885 [GRCh38]
Chr22:36681931 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5151-5C>T |
single nucleotide variant |
MYH9-related disorder [RCV004530702]|not provided [RCV000595110] |
Chr22:36285786 [GRCh38]
Chr22:36681832 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala) |
single nucleotide variant |
not provided [RCV001824345]|not specified [RCV000600513] |
Chr22:36300970 [GRCh38]
Chr22:36697016 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) |
single nucleotide variant |
Capillary infantile hemangioma [RCV000656460]|not provided [RCV002534245] |
Chr22:36285296 [GRCh38]
Chr22:36681342 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.2839-6C>T |
single nucleotide variant |
not provided [RCV002531154]|not specified [RCV000603373] |
Chr22:36300270 [GRCh38]
Chr22:36696316 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2077C>T (p.Arg693Cys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992344]|not provided [RCV001755996]|not specified [RCV000603024] |
Chr22:36306012 [GRCh38]
Chr22:36702058 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002483682]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003444605]|not provided [RCV003767458]|not specified [RCV000601770] |
Chr22:36295593 [GRCh38]
Chr22:36691639 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly) |
single nucleotide variant |
MYH9-related disorder [RCV000852126]|Obesity [RCV000626824] |
Chr22:36292059 [GRCh38]
Chr22:36688105 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.1389G>A (p.Ser463=) |
single nucleotide variant |
not provided [RCV001584430]|not specified [RCV000609577] |
Chr22:36314310 [GRCh38]
Chr22:36710355 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.952A>G (p.Met318Val) |
single nucleotide variant |
not specified [RCV000615696] |
Chr22:36320280 [GRCh38]
Chr22:36716325 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5853G>A (p.Ala1951=) |
single nucleotide variant |
not provided [RCV003767429]|not specified [RCV000606955] |
Chr22:36282698 [GRCh38]
Chr22:36678744 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.3942+5G>A |
single nucleotide variant |
MYH9-related disorder [RCV004530756]|not provided [RCV001697411] |
Chr22:36293754 [GRCh38]
Chr22:36689800 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.3100+7G>A |
single nucleotide variant |
MYH9-related disorder [RCV004530737]|not provided [RCV002062130]|not specified [RCV000612708] |
Chr22:36298912 [GRCh38]
Chr22:36694958 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1260G>C (p.Ala420=) |
single nucleotide variant |
not specified [RCV000612720] |
Chr22:36316637 [GRCh38]
Chr22:36712682 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.658G>A (p.Ala220Thr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000625590] |
Chr22:36322476 [GRCh38]
Chr22:36718521 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.170A>T (p.Glu57Val) |
single nucleotide variant |
not specified [RCV000612887] |
Chr22:36349067 [GRCh38]
Chr22:36745112 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3591C>T (p.Ala1197=) |
single nucleotide variant |
not provided [RCV000594164] |
Chr22:36294971 [GRCh38]
Chr22:36691017 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001143858]|Inborn genetic diseases [RCV002531129]|MYH9-related disorder [RCV001143859]|not provided [RCV001573754]|not specified [RCV000613271] |
Chr22:36349205 [GRCh38]
Chr22:36745250 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.193G>A (p.Val65Met) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000765636]|not provided [RCV002531128]|not specified [RCV000610555] |
Chr22:36349044 [GRCh38]
Chr22:36745089 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.11A>G (p.Gln4Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004024891]|MYH9-related disorder [RCV004527680]|not provided [RCV001540673]|not specified [RCV000613702] |
Chr22:36349226 [GRCh38]
Chr22:36745271 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2691C>T (p.Ala897=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001151033]|MYH9-related disorder [RCV001151034]|not provided [RCV002531127]|not specified [RCV000614144] |
Chr22:36300998 [GRCh38]
Chr22:36697044 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3215C>T (p.Ala1072Val) |
single nucleotide variant |
not specified [RCV000609396] |
Chr22:36296900 [GRCh38]
Chr22:36692946 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1686G>A (p.Leu562=) |
single nucleotide variant |
MYH9-related disorder [RCV004544801]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002491301]|not provided [RCV000918004]|not specified [RCV000612083] |
Chr22:36312091 [GRCh38]
Chr22:36708136 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5574C>T (p.Ala1858=) |
single nucleotide variant |
not specified [RCV000612104] |
Chr22:36284421 [GRCh38]
Chr22:36680467 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+8G>T |
single nucleotide variant |
not provided [RCV003767750]|not specified [RCV000607445] |
Chr22:36284085 [GRCh38]
Chr22:36680131 [GRCh37]
Chr22:22q12.3 |
likely benign |
| GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 |
copy number gain |
See cases [RCV000512385] |
Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1 |
likely pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 |
copy number gain |
See cases [RCV000512333] |
Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.4963G>A (p.Asp1655Asn) |
single nucleotide variant |
not provided [RCV000657996] |
Chr22:36286816 [GRCh38]
Chr22:36682862 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q12.3(chr22:36614412-36716248)x3 |
copy number gain |
not provided [RCV000684454] |
Chr22:36614412..36716248 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5510T>G (p.Val1837Gly) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001804244] |
Chr22:36284485 [GRCh38]
Chr22:36680531 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002470950]|not provided [RCV000681823] |
Chr22:36316626 [GRCh38]
Chr22:36712671 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.612+110G>A |
single nucleotide variant |
not provided [RCV001546239] |
Chr22:36326458 [GRCh38]
Chr22:36722503 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002533072]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002493303]|not provided [RCV000723104] |
Chr22:36294187 [GRCh38]
Chr22:36690233 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1554+134T>C |
single nucleotide variant |
not provided [RCV001609021] |
Chr22:36314011 [GRCh38]
Chr22:36710056 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys) |
single nucleotide variant |
Hearing impairment [RCV000754552]|not provided [RCV003727815] |
Chr22:36294247 [GRCh38]
Chr22:36690293 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 |
copy number gain |
not provided [RCV000741689] |
Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q12.3(chr22:36611863-36714089)x3 |
copy number gain |
not provided [RCV000741937] |
Chr22:36611863..36714089 [GRCh37]
Chr22:22q12.3 |
benign |
| GRCh37/hg19 22q12.3(chr22:36614056-36710183)x3 |
copy number gain |
not provided [RCV000741938] |
Chr22:36614056..36710183 [GRCh37]
Chr22:22q12.3 |
benign |
| GRCh37/hg19 22q12.3(chr22:36616135-36712903)x3 |
copy number gain |
not provided [RCV000741939] |
Chr22:36616135..36712903 [GRCh37]
Chr22:22q12.3 |
benign |
| GRCh37/hg19 22q12.3(chr22:36616135-36713869)x3 |
copy number gain |
not provided [RCV000741940] |
Chr22:36616135..36713869 [GRCh37]
Chr22:22q12.3 |
benign |
| GRCh37/hg19 22q12.3(chr22:36616135-36714652)x3 |
copy number gain |
not provided [RCV000741941] |
Chr22:36616135..36714652 [GRCh37]
Chr22:22q12.3 |
benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 |
copy number gain |
not provided [RCV000741691] |
Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 |
copy number gain |
not provided [RCV000741692] |
Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.1555-71T>C |
single nucleotide variant |
not provided [RCV001645664]|not specified [RCV004594434] |
Chr22:36312293 [GRCh38]
Chr22:36708338 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5564G>A (p.Arg1855Gln) |
single nucleotide variant |
not provided [RCV001532463] |
Chr22:36284431 [GRCh38]
Chr22:36680477 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1380+161del |
deletion |
not provided [RCV001645887] |
Chr22:36316356 [GRCh38]
Chr22:36712401 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5040C>T (p.Ala1680=) |
single nucleotide variant |
not provided [RCV000917128] |
Chr22:36286739 [GRCh38]
Chr22:36682785 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3485+84AC[11] |
microsatellite |
not provided [RCV001534888] |
Chr22:36295401..36295402 [GRCh38]
Chr22:36691447..36691448 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1380+256A>G |
single nucleotide variant |
not provided [RCV001691899] |
Chr22:36316261 [GRCh38]
Chr22:36712306 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5788G>A (p.Val1930Met) |
single nucleotide variant |
MYH9-related disorder [RCV004536194]|not provided [RCV001566000] |
Chr22:36282763 [GRCh38]
Chr22:36678809 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2390+200_2390+210del |
deletion |
not provided [RCV001566313] |
Chr22:36303785..36303795 [GRCh38]
Chr22:36699831..36699841 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5118G>A (p.Leu1706=) |
single nucleotide variant |
not provided [RCV001567234] |
Chr22:36285897 [GRCh38]
Chr22:36681943 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4344+70A>G |
single nucleotide variant |
not provided [RCV001708451] |
Chr22:36291916 [GRCh38]
Chr22:36687962 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5765+211T>C |
single nucleotide variant |
not provided [RCV001574611] |
Chr22:36283882 [GRCh38]
Chr22:36679928 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2230-52T>C |
single nucleotide variant |
not provided [RCV001548614] |
Chr22:36304207 [GRCh38]
Chr22:36700253 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5695G>A (p.Glu1899Lys) |
single nucleotide variant |
not provided [RCV000762069] |
Chr22:36284163 [GRCh38]
Chr22:36680209 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3177C>T (p.Asp1059=) |
single nucleotide variant |
not provided [RCV000762070] |
Chr22:36296938 [GRCh38]
Chr22:36692984 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3272+302del |
deletion |
not provided [RCV001645823] |
Chr22:36296541 [GRCh38]
Chr22:36692587 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3485+158CT[2] |
microsatellite |
not provided [RCV001571707] |
Chr22:36295342..36295343 [GRCh38]
Chr22:36691388..36691389 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4557+64G>A |
single nucleotide variant |
not provided [RCV001580935] |
Chr22:36289021 [GRCh38]
Chr22:36685067 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2976+10G>T |
single nucleotide variant |
MYH9-related disorder [RCV004542001]|not provided [RCV001551432] |
Chr22:36300117 [GRCh38]
Chr22:36696163 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2268T>C (p.Ile756=) |
single nucleotide variant |
not provided [RCV001551568] |
Chr22:36304117 [GRCh38]
Chr22:36700163 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1729-5G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001147292]|MYH9-related disorder [RCV001147293]|not provided [RCV002070787] |
Chr22:36309401 [GRCh38]
Chr22:36705446 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2838+19C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506677]|not provided [RCV001570604] |
Chr22:36300832 [GRCh38]
Chr22:36696878 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1228-189C>G |
single nucleotide variant |
not provided [RCV001690140] |
Chr22:36316858 [GRCh38]
Chr22:36712903 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1843+184dup |
duplication |
not provided [RCV001690628] |
Chr22:36309095..36309096 [GRCh38]
Chr22:36705141..36705142 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2838+182C>T |
single nucleotide variant |
not provided [RCV001690781] |
Chr22:36300669 [GRCh38]
Chr22:36696715 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2820G>A (p.Lys940=) |
single nucleotide variant |
not provided [RCV000891792] |
Chr22:36300869 [GRCh38]
Chr22:36696915 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.669C>T (p.Asn223=) |
single nucleotide variant |
not provided [RCV000927623] |
Chr22:36322465 [GRCh38]
Chr22:36718510 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3645C>T (p.Leu1215=) |
single nucleotide variant |
MYH9-related disorder [RCV004531011]|not provided [RCV000898196] |
Chr22:36294284 [GRCh38]
Chr22:36690330 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1228-4G>A |
single nucleotide variant |
MYH9-related disorder [RCV004733091]|not provided [RCV000937618] |
Chr22:36316673 [GRCh38]
Chr22:36712718 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5734C>T (p.Arg1912Cys) |
single nucleotide variant |
MYH9-related disorder [RCV004528666] |
Chr22:36284124 [GRCh38]
Chr22:36680170 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.153C>T (p.Gly51=) |
single nucleotide variant |
MYH9-related disorder [RCV004540641]|not provided [RCV003312557] |
Chr22:36349084 [GRCh38]
Chr22:36745129 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004029187]|Nephrotic syndrome [RCV001580283]|not provided [RCV000992414]|not specified [RCV000825379] |
Chr22:36285266 [GRCh38]
Chr22:36681312 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5766-13_5766-2dup |
duplication |
not specified [RCV000825384] |
Chr22:36282786..36282787 [GRCh38]
Chr22:36678832..36678833 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4203C>T (p.His1401=) |
single nucleotide variant |
not provided [RCV003768559]|not specified [RCV000825782] |
Chr22:36292127 [GRCh38]
Chr22:36688173 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.97T>G (p.Trp33Gly) |
single nucleotide variant |
MYH9-related disorder [RCV000790337] |
Chr22:36349140 [GRCh38]
Chr22:36745185 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.220A>G (p.Lys74Glu) |
single nucleotide variant |
MYH9-related disorder [RCV000790349]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245639]|not provided [RCV003558559] |
Chr22:36349017 [GRCh38]
Chr22:36745062 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) |
single nucleotide variant |
MYH9-related disorder [RCV000790355]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245640]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002507333]|not provided [RCV003117546] |
Chr22:36305937 [GRCh38]
Chr22:36701983 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.5800del (p.Met1934fs) |
deletion |
MYH9-related disorder [RCV000790364] |
Chr22:36282751 [GRCh38]
Chr22:36678797 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.1728+7A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148192]|MYH9-related disorder [RCV001148193]|not provided [RCV000917380] |
Chr22:36312042 [GRCh38]
Chr22:36708087 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1894C>T (p.Leu632=) |
single nucleotide variant |
not provided [RCV000978376] |
Chr22:36306557 [GRCh38]
Chr22:36702603 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4761G>A (p.Leu1587=) |
single nucleotide variant |
not provided [RCV000925331] |
Chr22:36288736 [GRCh38]
Chr22:36684782 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4218C>T (p.Ala1406=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502723]|not provided [RCV000909613] |
Chr22:36292112 [GRCh38]
Chr22:36688158 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1473G>A (p.Glu491=) |
single nucleotide variant |
MYH9-related disorder [RCV004531004]|not provided [RCV000896681] |
Chr22:36314226 [GRCh38]
Chr22:36710271 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3051C>T (p.Ser1017=) |
single nucleotide variant |
MYH9-related disorder [RCV004531032]|not provided [RCV000902269] |
Chr22:36298968 [GRCh38]
Chr22:36695014 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.457A>G (p.Ile153Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003267507] |
Chr22:36341403 [GRCh38]
Chr22:36737448 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4691C>T (p.Ala1564Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003313831] |
Chr22:36288806 [GRCh38]
Chr22:36684852 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) |
single nucleotide variant |
MYH9-related disorder [RCV004538140]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002478936]|Nephrotic syndrome [RCV004773204]|not provided [RCV000899985]|not specified [RCV000825780] |
Chr22:36296869 [GRCh38]
Chr22:36692915 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.868+65A>G |
single nucleotide variant |
not provided [RCV000842642] |
Chr22:36320733 [GRCh38]
Chr22:36716778 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3272+76C>T |
single nucleotide variant |
not provided [RCV000842770] |
Chr22:36296767 [GRCh38]
Chr22:36692813 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3485+73C>T |
single nucleotide variant |
not provided [RCV000842771] |
Chr22:36295432 [GRCh38]
Chr22:36691478 [GRCh37]
Chr22:22q12.3 |
benign |
| NC_000022.11:g.36294074T>C |
single nucleotide variant |
not provided [RCV000842772] |
Chr22:36690120 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002495189]|not specified [RCV000825380] |
Chr22:36298937 [GRCh38]
Chr22:36694983 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NC_000022.11:g.36312005_36312012del |
deletion |
not provided [RCV000842923] |
|
benign |
| NM_002473.6(MYH9):c.3272+3G>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487866]|not provided [RCV001858388]|not specified [RCV000825376] |
Chr22:36296840 [GRCh38]
Chr22:36692886 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3195C>A (p.Ala1065=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501172]|not provided [RCV000840685] |
Chr22:36296920 [GRCh38]
Chr22:36692966 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4552A>C (p.Lys1518Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001029861] |
Chr22:36289090 [GRCh38]
Chr22:36685136 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.108_116del (p.Asp37_Ser39del) |
deletion |
MYH9-related disorder [RCV000790338] |
Chr22:36349121..36349129 [GRCh38]
Chr22:36745166..36745174 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.2668del (p.Gln890fs) |
deletion |
MYH9-related disorder [RCV000790340] |
Chr22:36301021 [GRCh38]
Chr22:36697067 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys) |
single nucleotide variant |
MYH9-related disorder [RCV000790341]|Thrombocytopenia [RCV000851756] |
Chr22:36300928 [GRCh38]
Chr22:36696974 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3202_3222dup (p.Gln1068_Leu1074dup) |
duplication |
MYH9-related disorder [RCV000790342] |
Chr22:36296892..36296893 [GRCh38]
Chr22:36692938..36692939 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.3584C>T (p.Ser1195Leu) |
single nucleotide variant |
MYH9-related disorder [RCV000790343]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245638] |
Chr22:36294978 [GRCh38]
Chr22:36691024 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) |
single nucleotide variant |
MYH9-related disorder [RCV000790345]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500987]|not provided [RCV002533860] |
Chr22:36292028 [GRCh38]
Chr22:36688074 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4946A>G (p.Asp1649Gly) |
single nucleotide variant |
MYH9-related disorder [RCV000790346]|Thrombocytopenia [RCV000851804] |
Chr22:36286833 [GRCh38]
Chr22:36682879 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5032A>G (p.Met1678Val) |
single nucleotide variant |
MYH9-related disorder [RCV000790347] |
Chr22:36286747 [GRCh38]
Chr22:36682793 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5808del (p.Gly1938fs) |
deletion |
MYH9-related disorder [RCV000790348] |
Chr22:36282743 [GRCh38]
Chr22:36678789 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) |
single nucleotide variant |
MYH9-related disorder [RCV000790351]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002222623] |
Chr22:36348954 [GRCh38]
Chr22:36744999 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.1119G>C (p.Lys373Asn) |
single nucleotide variant |
MYH9-related disorder [RCV000790353] |
Chr22:36318315 [GRCh38]
Chr22:36714360 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu) |
single nucleotide variant |
MYH9-related disorder [RCV000790356]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002249462]|not provided [RCV001869038] |
Chr22:36301658 [GRCh38]
Chr22:36697704 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.5770_5779del (p.Gly1924fs) |
deletion |
MYH9-related disorder [RCV000790362] |
Chr22:36282772..36282781 [GRCh38]
Chr22:36678818..36678827 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.1730T>C (p.Val577Ala) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000787012] |
Chr22:36309395 [GRCh38]
Chr22:36705440 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4558-7G>C |
single nucleotide variant |
not provided [RCV000841273] |
Chr22:36288946 [GRCh38]
Chr22:36684992 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4800C>T (p.Asp1600=) |
single nucleotide variant |
not provided [RCV000913410]|not specified [RCV000825779] |
Chr22:36288384 [GRCh38]
Chr22:36684430 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5630G>A (p.Arg1877Gln) |
single nucleotide variant |
not provided [RCV000782240] |
Chr22:36284228 [GRCh38]
Chr22:36680274 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2038-52C>T |
single nucleotide variant |
not provided [RCV000842769] |
Chr22:36306103 [GRCh38]
Chr22:36702149 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2403G>T (p.Lys801Asn) |
single nucleotide variant |
Macrothrombocytopenia [RCV000851749] |
Chr22:36302664 [GRCh38]
Chr22:36698710 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q12.3(chr22:36704833-36911784)x3 |
copy number gain |
not provided [RCV000849820] |
Chr22:36704833..36911784 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1273A>T (p.Met425Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001147372]|MYH9-related disorder [RCV001147373]|not provided [RCV003769704] |
Chr22:36316624 [GRCh38]
Chr22:36712669 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149111]|MYH9-related disorder [RCV001149112]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003444778]|not provided [RCV001593293]|not specified [RCV003331054] |
Chr22:36285226 [GRCh38]
Chr22:36681272 [GRCh37]
Chr22:22q12.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.1270C>T (p.Arg424Trp) |
single nucleotide variant |
not provided [RCV001092005] |
Chr22:36316627 [GRCh38]
Chr22:36712672 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2442G>A (p.Arg814=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001147793]|MYH9-related disorder [RCV001147792]|not provided [RCV003769708] |
Chr22:36302625 [GRCh38]
Chr22:36698671 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1590G>A (p.Glu530=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149747]|MYH9-related disorder [RCV001149748] |
Chr22:36312187 [GRCh38]
Chr22:36708232 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.445C>A (p.His149Asn) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148408]|MYH9-related disorder [RCV001148409] |
Chr22:36341415 [GRCh38]
Chr22:36737460 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150834]|MYH9-related disorder [RCV001150835] |
Chr22:36292047 [GRCh38]
Chr22:36688093 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001334060]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487867]|not provided [RCV001571969]|not specified [RCV000825381] |
Chr22:36349218 [GRCh38]
Chr22:36745263 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2958G>C (p.Gln986His) |
single nucleotide variant |
Inborn genetic diseases [RCV004029188]|not provided [RCV001869263]|not specified [RCV000825383] |
Chr22:36300145 [GRCh38]
Chr22:36696191 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.255C>T (p.Asp85=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487869]|not provided [RCV001712792]|not specified [RCV000825675] |
Chr22:36348982 [GRCh38]
Chr22:36745027 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5483+4C>T |
single nucleotide variant |
MYH9-related disorder [RCV004538141]|not provided [RCV003727828]|not specified [RCV000825783] |
Chr22:36285117 [GRCh38]
Chr22:36681163 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 |
copy number gain |
not provided [RCV001007181] |
Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149861]|MYH9-related disorder [RCV001149860] |
Chr22:36319565 [GRCh38]
Chr22:36715610 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4855C>T (p.Leu1619=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149226]|MYH9-related disorder [RCV001149225] |
Chr22:36288329 [GRCh38]
Chr22:36684375 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5202G>T (p.Leu1734=) |
single nucleotide variant |
not provided [RCV000897339] |
Chr22:36285730 [GRCh38]
Chr22:36681776 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2631+94A>G |
single nucleotide variant |
not provided [RCV000843384] |
Chr22:36301440 [GRCh38]
Chr22:36697486 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.968T>C (p.Met323Thr) |
single nucleotide variant |
not specified [RCV000825378] |
Chr22:36320264 [GRCh38]
Chr22:36716309 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5286C>G (p.Ile1762Met) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001260564]|not specified [RCV000825784] |
Chr22:36285318 [GRCh38]
Chr22:36681364 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2290C>T (p.Arg764Cys) |
single nucleotide variant |
MYH9-related disorder [RCV000844975] |
Chr22:36304095 [GRCh38]
Chr22:36700141 [GRCh37]
Chr22:22q12.3 |
not provided |
| NM_002473.6(MYH9):c.2911G>A (p.Ala971Thr) |
single nucleotide variant |
not provided [RCV000842303] |
Chr22:36300192 [GRCh38]
Chr22:36696238 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.552C>T (p.Thr184=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001145642]|MYH9-related disorder [RCV001145643]|not provided [RCV003708578] |
Chr22:36326628 [GRCh38]
Chr22:36722673 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148986]|MYH9-related disorder [RCV001148985]|Nephrotic syndrome [RCV001328210]|not provided [RCV002282464] |
Chr22:36282673 [GRCh38]
Chr22:36678719 [GRCh37]
Chr22:22q12.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.1519G>A (p.Asp507Asn) |
single nucleotide variant |
not provided [RCV000997917] |
Chr22:36314180 [GRCh38]
Chr22:36710225 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5610C>T (p.Thr1870=) |
single nucleotide variant |
not provided [RCV000997914] |
Chr22:36284248 [GRCh38]
Chr22:36680294 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.*325C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146067]|MYH9-related disorder [RCV001146068] |
Chr22:36282343 [GRCh38]
Chr22:36678389 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.*13G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146182]|MYH9-related disorder [RCV001146181] |
Chr22:36282655 [GRCh38]
Chr22:36678701 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149114]|MYH9-related disorder [RCV001149113] |
Chr22:36285741 [GRCh38]
Chr22:36681787 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4008C>T (p.Asp1336=) |
single nucleotide variant |
MYH9-related disorder [RCV004536037]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002497309]|not provided [RCV000997916] |
Chr22:36293416 [GRCh38]
Chr22:36689462 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4340A>G (p.Asp1447Gly) |
single nucleotide variant |
MYH9-related disorder [RCV000851788]|not provided [RCV001855730] |
Chr22:36291990 [GRCh38]
Chr22:36688036 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.2104C>A (p.Arg702Ser) |
single nucleotide variant |
MYH9-related disorder [RCV000851737] |
Chr22:36305985 [GRCh38]
Chr22:36702031 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2607G>A (p.Thr869=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144933]|MYH9-related disorder [RCV001144934] |
Chr22:36301558 [GRCh38]
Chr22:36697604 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys) |
single nucleotide variant |
not provided [RCV002549173]|not specified [RCV001002205] |
Chr22:36293415 [GRCh38]
Chr22:36689461 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3964C>T (p.Arg1322Trp) |
single nucleotide variant |
Nephrotic syndrome [RCV001195702]|not provided [RCV003718384] |
Chr22:36293460 [GRCh38]
Chr22:36689506 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150617]|MYH9-related disorder [RCV001150616]|Macrothrombocytopenia [RCV000851808]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245650]|not provided [RCV001855731] |
Chr22:36285941 [GRCh38]
Chr22:36681987 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.99G>C (p.Trp33Cys) |
single nucleotide variant |
MYH9-related disorder [RCV000852253]|not provided [RCV002533978] |
Chr22:36349138 [GRCh38]
Chr22:36745183 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| GRCh37/hg19 22q12.3(chr22:36704833-36968932)x3 |
copy number gain |
not provided [RCV000847397] |
Chr22:36704833..36968932 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002493406]|Thrombocytopenia [RCV000851706] |
Chr22:36349083 [GRCh38]
Chr22:36745128 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 |
copy number gain |
not provided [RCV000846344] |
Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q12.3(chr22:36746223-36971882)x3 |
copy number gain |
not provided [RCV000846041] |
Chr22:36746223..36971882 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.130_131delinsCT (p.Ala44Leu) |
indel |
Macrothrombocytopenia [RCV000852010] |
Chr22:36349106..36349107 [GRCh38]
Chr22:36745151..36745152 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4529T>G (p.Met1510Arg) |
single nucleotide variant |
MYH9-related disorder [RCV000852130] |
Chr22:36289113 [GRCh38]
Chr22:36685159 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4981C>T (p.Arg1661Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003251519] |
Chr22:36286798 [GRCh38]
Chr22:36682844 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5174_5175delinsAA (p.Arg1725Gln) |
indel |
not provided [RCV003313585] |
Chr22:36285757..36285758 [GRCh38]
Chr22:36681803..36681804 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4519G>C (p.Glu1507Gln) |
single nucleotide variant |
Macrothrombocytopenia [RCV000852129] |
Chr22:36289123 [GRCh38]
Chr22:36685169 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4466T>C (p.Met1489Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146570]|MYH9-related disorder [RCV001146571] |
Chr22:36289176 [GRCh38]
Chr22:36685222 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3852C>T (p.Asn1284=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146689]|MYH9-related disorder [RCV001146690]|not provided [RCV002070779] |
Chr22:36293849 [GRCh38]
Chr22:36689895 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001147597]|MYH9-related disorder [RCV001147596] |
Chr22:36294190 [GRCh38]
Chr22:36690236 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.4358A>G (p.Glu1453Gly) |
single nucleotide variant |
Focal segmental glomerulosclerosis [RCV002284215]|Nephrotic syndrome [RCV001195703] |
Chr22:36289284 [GRCh38]
Chr22:36685330 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5787C>T (p.Val1929=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150497]|MYH9-related disorder [RCV001150496]|not provided [RCV002557241]|not specified [RCV001819856] |
Chr22:36282764 [GRCh38]
Chr22:36678810 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150614]|Inborn genetic diseases [RCV002559454]|MYH9-related disorder [RCV001150615]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003339517]|not provided [RCV002559453] |
Chr22:36285907 [GRCh38]
Chr22:36681953 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150731]|MYH9-related disorder [RCV001150732]|Proteinuria [RCV002284214]|not provided [RCV003442215]|not specified [RCV001819858] |
Chr22:36288367 [GRCh38]
Chr22:36684413 [GRCh37]
Chr22:22q12.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.-86G>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001145756]|MYH9-related disorder [RCV001145757] |
Chr22:36387873 [GRCh38]
Chr22:36783918 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2323C>T (p.Arg775Ter) |
single nucleotide variant |
not provided [RCV003127142] |
Chr22:36304062 [GRCh38]
Chr22:36700108 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5760G>A (p.Lys1920=) |
single nucleotide variant |
not provided [RCV003105199] |
Chr22:36284098 [GRCh38]
Chr22:36680144 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3486-43C>T |
single nucleotide variant |
not provided [RCV001576092] |
Chr22:36295119 [GRCh38]
Chr22:36691165 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.72C>T (p.Ala24=) |
single nucleotide variant |
not provided [RCV001544791] |
Chr22:36349165 [GRCh38]
Chr22:36745210 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1555-284C>T |
single nucleotide variant |
not provided [RCV001564514] |
Chr22:36312506 [GRCh38]
Chr22:36708551 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2390+138T>A |
single nucleotide variant |
not provided [RCV001550256] |
Chr22:36303857 [GRCh38]
Chr22:36699903 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3676C>T (p.Arg1226Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004039446]|MYH9-related disorder [RCV004733365]|not provided [RCV001576446] |
Chr22:36294253 [GRCh38]
Chr22:36690299 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.1728+78C>T |
single nucleotide variant |
not provided [RCV001609271] |
Chr22:36311971 [GRCh38]
Chr22:36708016 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.868+105G>A |
single nucleotide variant |
not provided [RCV001569394] |
Chr22:36320693 [GRCh38]
Chr22:36716738 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1109-145A>G |
single nucleotide variant |
not provided [RCV001546052] |
Chr22:36318470 [GRCh38]
Chr22:36714515 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.491-128C>A |
single nucleotide variant |
not provided [RCV001551058] |
Chr22:36327616 [GRCh38]
Chr22:36723661 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1057G>A (p.Val353Ile) |
single nucleotide variant |
not provided [RCV001547740] |
Chr22:36319591 [GRCh38]
Chr22:36715636 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity |
| NC_000022.10:g.(?_36744929)_(36745281_?)dup |
duplication |
not provided [RCV003107694] |
Chr22:36744929..36745281 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NC_000022.10:g.(?_36651002)_(36710383_?)dup |
duplication |
not provided [RCV003107695] |
Chr22:36651002..36710383 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3272+62C>T |
single nucleotide variant |
not provided [RCV001548737] |
Chr22:36296781 [GRCh38]
Chr22:36692827 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
not provided [RCV003318295] |
Chr22:36312212 [GRCh38]
Chr22:36708257 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1554+143A>G |
single nucleotide variant |
not provided [RCV001687980] |
Chr22:36314002 [GRCh38]
Chr22:36710047 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4344+302del |
deletion |
not provided [RCV001645038] |
Chr22:36291684 [GRCh38]
Chr22:36687730 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.612+79C>T |
single nucleotide variant |
not provided [RCV001713290]|not specified [RCV004594557] |
Chr22:36326489 [GRCh38]
Chr22:36722534 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1012+237C>T |
single nucleotide variant |
not provided [RCV001638716] |
Chr22:36319983 [GRCh38]
Chr22:36716028 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.706-173C>T |
single nucleotide variant |
not provided [RCV001714749] |
Chr22:36321994 [GRCh38]
Chr22:36718039 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.869-150A>G |
single nucleotide variant |
not provided [RCV001560737] |
Chr22:36320513 [GRCh38]
Chr22:36716558 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3485+18G>C |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501904]|not provided [RCV001560765] |
Chr22:36295487 [GRCh38]
Chr22:36691533 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1380+295G>A |
single nucleotide variant |
not provided [RCV001636027] |
Chr22:36316222 [GRCh38]
Chr22:36712267 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2976+231G>A |
single nucleotide variant |
not provided [RCV001648233] |
Chr22:36299896 [GRCh38]
Chr22:36695942 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3100+199C>G |
single nucleotide variant |
not provided [RCV001576458] |
Chr22:36298720 [GRCh38]
Chr22:36694766 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5484-157G>A |
single nucleotide variant |
not provided [RCV001608578] |
Chr22:36284668 [GRCh38]
Chr22:36680714 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5061+57C>T |
single nucleotide variant |
not provided [RCV001639083] |
Chr22:36286661 [GRCh38]
Chr22:36682707 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.334-132G>C |
single nucleotide variant |
not provided [RCV001687125] |
Chr22:36341658 [GRCh38]
Chr22:36737703 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2631+147A>G |
single nucleotide variant |
not provided [RCV001550737] |
Chr22:36301387 [GRCh38]
Chr22:36697433 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1012+56C>T |
single nucleotide variant |
not provided [RCV001714058]|not specified [RCV004594546] |
Chr22:36320164 [GRCh38]
Chr22:36716209 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2280A>G (p.Lys760=) |
single nucleotide variant |
not provided [RCV001723440] |
Chr22:36304105 [GRCh38]
Chr22:36700151 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2038-167T>C |
single nucleotide variant |
not provided [RCV001593628] |
Chr22:36306218 [GRCh38]
Chr22:36702264 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1381-178T>C |
single nucleotide variant |
not provided [RCV001682499] |
Chr22:36314496 [GRCh38]
Chr22:36710541 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.769+171A>G |
single nucleotide variant |
not provided [RCV001557051] |
Chr22:36321587 [GRCh38]
Chr22:36717632 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2230-181C>T |
single nucleotide variant |
not provided [RCV001551368] |
Chr22:36304336 [GRCh38]
Chr22:36700382 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.491-164A>C |
single nucleotide variant |
not provided [RCV001670037] |
Chr22:36327652 [GRCh38]
Chr22:36723697 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.518+208C>G |
single nucleotide variant |
not provided [RCV001571684] |
Chr22:36327253 [GRCh38]
Chr22:36723298 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.334-184G>A |
single nucleotide variant |
not provided [RCV001620701] |
Chr22:36341710 [GRCh38]
Chr22:36737755 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1228-306G>A |
single nucleotide variant |
not provided [RCV001718484] |
Chr22:36316975 [GRCh38]
Chr22:36713020 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1729-182A>G |
single nucleotide variant |
not provided [RCV001670378] |
Chr22:36309578 [GRCh38]
Chr22:36705623 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2230-185C>T |
single nucleotide variant |
not provided [RCV001657242] |
Chr22:36304340 [GRCh38]
Chr22:36700386 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4056G>A (p.Lys1352=) |
single nucleotide variant |
not provided [RCV000983637] |
Chr22:36293368 [GRCh38]
Chr22:36689414 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1494G>A (p.Glu498=) |
single nucleotide variant |
not provided [RCV000905464] |
Chr22:36314205 [GRCh38]
Chr22:36710250 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.613-292C>T |
single nucleotide variant |
not provided [RCV001537377] |
Chr22:36322813 [GRCh38]
Chr22:36718858 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5571C>T (p.Asn1857=) |
single nucleotide variant |
not provided [RCV000976085] |
Chr22:36284424 [GRCh38]
Chr22:36680470 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2646A>G (p.Lys882=) |
single nucleotide variant |
not provided [RCV000916261] |
Chr22:36301043 [GRCh38]
Chr22:36697089 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2230-9C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502876]|not provided [RCV000939495] |
Chr22:36304164 [GRCh38]
Chr22:36700210 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1788C>T (p.Ile596=) |
single nucleotide variant |
Kidney disorder [RCV002294433]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503136]|not provided [RCV000982515] |
Chr22:36309337 [GRCh38]
Chr22:36705382 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3453G>A (p.Thr1151=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144828]|MYH9-related disorder [RCV001144827]|not provided [RCV002557096] |
Chr22:36295537 [GRCh38]
Chr22:36691583 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3272+301_3272+302del |
deletion |
not provided [RCV001609294] |
Chr22:36296541..36296542 [GRCh38]
Chr22:36692587..36692588 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4902C>T (p.Asp1634=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146453]|MYH9-related disorder [RCV001146454]|not provided [RCV001572213] |
Chr22:36288282 [GRCh38]
Chr22:36684328 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.448A>G (p.Ile150Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148406]|MYH9-related disorder [RCV001148407] |
Chr22:36341412 [GRCh38]
Chr22:36737457 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5100G>C (p.Gln1700His) |
single nucleotide variant |
not provided [RCV001225591] |
Chr22:36285915 [GRCh38]
Chr22:36681961 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5430C>T (p.Thr1810=) |
single nucleotide variant |
MYH9-related disorder [RCV004543502]|not provided [RCV000934458] |
Chr22:36285174 [GRCh38]
Chr22:36681220 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4503G>A (p.Gln1501=) |
single nucleotide variant |
not provided [RCV000911107] |
Chr22:36289139 [GRCh38]
Chr22:36685185 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501455]|not provided [RCV000889844] |
Chr22:36284453 [GRCh38]
Chr22:36680499 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.5764A>C (p.Arg1922=) |
single nucleotide variant |
MYH9-related disorder [RCV004533501]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002495511]|not provided [RCV000913112] |
Chr22:36284094 [GRCh38]
Chr22:36680140 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2085C>T (p.Asn695=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002495384]|not provided [RCV000889867] |
Chr22:36306004 [GRCh38]
Chr22:36702050 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5204A>C (p.Glu1735Ala) |
single nucleotide variant |
not provided [RCV001562079] |
Chr22:36285728 [GRCh38]
Chr22:36681774 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2977-327G>A |
single nucleotide variant |
not provided [RCV001551779] |
Chr22:36299369 [GRCh38]
Chr22:36695415 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488376]|not provided [RCV001557807] |
Chr22:36294112 [GRCh38]
Chr22:36690158 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.1345G>A (p.Gly449Arg) |
single nucleotide variant |
not provided [RCV003108266] |
Chr22:36316552 [GRCh38]
Chr22:36712597 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2788C>G (p.Arg930Gly) |
single nucleotide variant |
Macrothrombocytopenia [RCV002254230] |
Chr22:36300901 [GRCh38]
Chr22:36696947 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.5593-4G>A |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501895]|not provided [RCV001555125] |
Chr22:36284269 [GRCh38]
Chr22:36680315 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1012+236A>G |
single nucleotide variant |
not provided [RCV001636158] |
Chr22:36319984 [GRCh38]
Chr22:36716029 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2838+120A>G |
single nucleotide variant |
not provided [RCV001576278] |
Chr22:36300731 [GRCh38]
Chr22:36696777 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3273-164C>G |
single nucleotide variant |
not provided [RCV001636222] |
Chr22:36295881 [GRCh38]
Chr22:36691927 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.519-133del |
deletion |
not provided [RCV001620433] |
Chr22:36326794 [GRCh38]
Chr22:36722839 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.333+62del |
deletion |
not provided [RCV001596706]|not specified [RCV004594381] |
Chr22:36348842 [GRCh38]
Chr22:36744887 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1012+62_1012+63insA |
insertion |
not provided [RCV001676615]|not specified [RCV004594493] |
Chr22:36320157..36320158 [GRCh38]
Chr22:36716202..36716203 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.796C>T (p.Arg266Cys) |
single nucleotide variant |
not provided [RCV002464721] |
Chr22:36320870 [GRCh38]
Chr22:36716915 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144413]|MYH9-related disorder [RCV001144414]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001029915]|not provided [RCV001352047] |
Chr22:36284187 [GRCh38]
Chr22:36680233 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.2037+160G>A |
single nucleotide variant |
not provided [RCV001695529] |
Chr22:36306254 [GRCh38]
Chr22:36702300 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2618C>T (p.Thr873Met) |
single nucleotide variant |
not provided [RCV001659041] |
Chr22:36301547 [GRCh38]
Chr22:36697593 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2391-333A>G |
single nucleotide variant |
not provided [RCV001713475] |
Chr22:36303009 [GRCh38]
Chr22:36699055 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.612+123G>T |
single nucleotide variant |
not provided [RCV001621094] |
Chr22:36326445 [GRCh38]
Chr22:36722490 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1555-136dup |
duplication |
not provided [RCV001713610] |
Chr22:36312355..36312356 [GRCh38]
Chr22:36708400..36708401 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.333+50T>G |
single nucleotide variant |
not provided [RCV001695903] |
Chr22:36348854 [GRCh38]
Chr22:36744899 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3273-206C>T |
single nucleotide variant |
not provided [RCV001639596] |
Chr22:36295923 [GRCh38]
Chr22:36691969 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.333+47A>G |
single nucleotide variant |
not provided [RCV001677833] |
Chr22:36348857 [GRCh38]
Chr22:36744902 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3272+137A>G |
single nucleotide variant |
not provided [RCV001621764] |
Chr22:36296706 [GRCh38]
Chr22:36692752 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+308T>G |
single nucleotide variant |
not provided [RCV001608350] |
Chr22:36311741 [GRCh38]
Chr22:36707786 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1109-265G>A |
single nucleotide variant |
not provided [RCV001536692] |
Chr22:36318590 [GRCh38]
Chr22:36714635 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1381-156G>T |
single nucleotide variant |
not provided [RCV001639242] |
Chr22:36314474 [GRCh38]
Chr22:36710519 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1227+163G>C |
single nucleotide variant |
not provided [RCV001688218] |
Chr22:36318044 [GRCh38]
Chr22:36714089 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5061+58G>A |
single nucleotide variant |
not provided [RCV001689031] |
Chr22:36286660 [GRCh38]
Chr22:36682706 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.333+59G>A |
single nucleotide variant |
not provided [RCV001686262]|not specified [RCV004594501] |
Chr22:36348845 [GRCh38]
Chr22:36744890 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2977-214dup |
duplication |
not provided [RCV001637518] |
Chr22:36299255..36299256 [GRCh38]
Chr22:36695301..36695302 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1380+175T>C |
single nucleotide variant |
not provided [RCV001617414] |
Chr22:36316342 [GRCh38]
Chr22:36712387 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1843+224C>T |
single nucleotide variant |
not provided [RCV001595640] |
Chr22:36309058 [GRCh38]
Chr22:36705104 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1228-96G>C |
single nucleotide variant |
not provided [RCV001656406]|not specified [RCV004594447] |
Chr22:36316765 [GRCh38]
Chr22:36712810 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2390+262G>A |
single nucleotide variant |
not provided [RCV001693668] |
Chr22:36303733 [GRCh38]
Chr22:36699779 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1844-239A>G |
single nucleotide variant |
not provided [RCV001637574] |
Chr22:36306846 [GRCh38]
Chr22:36702892 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2977-159C>A |
single nucleotide variant |
not provided [RCV001677895] |
Chr22:36299201 [GRCh38]
Chr22:36695247 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2390+192dup |
duplication |
not provided [RCV001676671] |
Chr22:36303784..36303785 [GRCh38]
Chr22:36699830..36699831 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5766-227A>G |
single nucleotide variant |
not provided [RCV001637863] |
Chr22:36283012 [GRCh38]
Chr22:36679058 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1380+148G>C |
single nucleotide variant |
not provided [RCV001698797] |
Chr22:36316369 [GRCh38]
Chr22:36712414 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+221G>A |
single nucleotide variant |
not provided [RCV001694991] |
Chr22:36311828 [GRCh38]
Chr22:36707873 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.705+123C>T |
single nucleotide variant |
not provided [RCV001635796] |
Chr22:36322306 [GRCh38]
Chr22:36718351 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1013-192del |
deletion |
not provided [RCV001673763] |
Chr22:36319827 [GRCh38]
Chr22:36715872 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2913G>A (p.Ala971=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506702]|not provided [RCV001596242] |
Chr22:36300190 [GRCh38]
Chr22:36696236 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1843+276= |
single nucleotide variant |
not provided [RCV001594636] |
Chr22:36309006 [GRCh38]
Chr22:36705052 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149863]|MYH9-related disorder [RCV001149862] |
Chr22:36319600 [GRCh38]
Chr22:36715645 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*1330A>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144067]|MYH9-related disorder [RCV001144068] |
Chr22:36281338 [GRCh38]
Chr22:36677384 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2653C>T (p.Leu885=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144931]|MYH9-related disorder [RCV001144932] |
Chr22:36301036 [GRCh38]
Chr22:36697082 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*639C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144175]|MYH9-related disorder [RCV001144176] |
Chr22:36282029 [GRCh38]
Chr22:36678075 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2038-4C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001145339]|MYH9-related disorder [RCV001145338] |
Chr22:36306055 [GRCh38]
Chr22:36702101 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5484-295A>G |
single nucleotide variant |
not provided [RCV001564663] |
Chr22:36284806 [GRCh38]
Chr22:36680852 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1209G>A (p.Lys403=) |
single nucleotide variant |
not specified [RCV001195455] |
Chr22:36318225 [GRCh38]
Chr22:36714270 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.659C>T (p.Ala220Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484065]|not specified [RCV001195621] |
Chr22:36322475 [GRCh38]
Chr22:36718520 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2115C>T (p.Arg705=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002477858]|not provided [RCV001590197] |
Chr22:36305974 [GRCh38]
Chr22:36702020 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.490+99C>T |
single nucleotide variant |
not provided [RCV001666956] |
Chr22:36341271 [GRCh38]
Chr22:36737316 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2390+209_2390+210del |
deletion |
not provided [RCV001708428] |
Chr22:36303785..36303786 [GRCh38]
Chr22:36699831..36699832 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5484-216G>A |
single nucleotide variant |
not provided [RCV001613983] |
Chr22:36284727 [GRCh38]
Chr22:36680773 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3838G>A (p.Val1280Met) |
single nucleotide variant |
MYH9-related disorder [RCV004536228]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003388031]|not provided [RCV001590391] |
Chr22:36293863 [GRCh38]
Chr22:36689909 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4770+106C>T |
single nucleotide variant |
not provided [RCV001671348] |
Chr22:36288621 [GRCh38]
Chr22:36684667 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.518+68A>T |
single nucleotide variant |
not provided [RCV001686005] |
Chr22:36327393 [GRCh38]
Chr22:36723438 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5822del (p.Asp1941fs) |
deletion |
not provided [RCV001682635] |
Chr22:36282729 [GRCh38]
Chr22:36678775 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.2977-85G>A |
single nucleotide variant |
not provided [RCV001611169] |
Chr22:36299127 [GRCh38]
Chr22:36695173 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1109-340A>T |
single nucleotide variant |
not provided [RCV001611203] |
Chr22:36318665 [GRCh38]
Chr22:36714710 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5484-268G>C |
single nucleotide variant |
not provided [RCV001694421] |
Chr22:36284779 [GRCh38]
Chr22:36680825 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.519-119C>T |
single nucleotide variant |
not provided [RCV001587727] |
Chr22:36326780 [GRCh38]
Chr22:36722825 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1380+90T>C |
single nucleotide variant |
not provided [RCV001666039] |
Chr22:36316427 [GRCh38]
Chr22:36712472 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.-19-146G>T |
single nucleotide variant |
not provided [RCV001708494] |
Chr22:36349401 [GRCh38]
Chr22:36745446 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+232C>T |
single nucleotide variant |
not provided [RCV001678662] |
Chr22:36311817 [GRCh38]
Chr22:36707862 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.770-73_770-72dup |
duplication |
not provided [RCV001614225] |
Chr22:36320956..36320957 [GRCh38]
Chr22:36717001..36717002 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1021C>T (p.Arg341Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002569110]|MYH9-related disorder [RCV004733366]|not provided [RCV001584685] |
Chr22:36319627 [GRCh38]
Chr22:36715672 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1843+78T>C |
single nucleotide variant |
not provided [RCV001583305] |
Chr22:36309204 [GRCh38]
Chr22:36705249 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2500-220C>T |
single nucleotide variant |
not provided [RCV001583626] |
Chr22:36301885 [GRCh38]
Chr22:36697931 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1729-88T>C |
single nucleotide variant |
not provided [RCV001709983]|not specified [RCV004594537] |
Chr22:36309484 [GRCh38]
Chr22:36705529 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5483+292C>T |
single nucleotide variant |
not provided [RCV001710996] |
Chr22:36284829 [GRCh38]
Chr22:36680875 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4932+206A>G |
single nucleotide variant |
not provided [RCV001708997] |
Chr22:36288046 [GRCh38]
Chr22:36684092 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1729-211C>T |
single nucleotide variant |
not provided [RCV001642158] |
Chr22:36309607 [GRCh38]
Chr22:36705652 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4932+198A>C |
single nucleotide variant |
not provided [RCV001567987] |
Chr22:36288054 [GRCh38]
Chr22:36684100 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4906G>A (p.Ala1636Thr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001029843] |
Chr22:36288278 [GRCh38]
Chr22:36684324 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2976+86G>A |
single nucleotide variant |
not provided [RCV001670848] |
Chr22:36300041 [GRCh38]
Chr22:36696087 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1729-181C>T |
single nucleotide variant |
not provided [RCV001696540] |
Chr22:36309577 [GRCh38]
Chr22:36705622 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+160C>T |
single nucleotide variant |
not provided [RCV001588290] |
Chr22:36311889 [GRCh38]
Chr22:36707934 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5814C>T (p.Gly1938=) |
single nucleotide variant |
not provided [RCV001583955] |
Chr22:36282737 [GRCh38]
Chr22:36678783 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.333+61G>C |
single nucleotide variant |
not provided [RCV001693893]|not specified [RCV004594529] |
Chr22:36348843 [GRCh38]
Chr22:36744888 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1167C>T (p.Ile389=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002501950]|not provided [RCV001583994] |
Chr22:36318267 [GRCh38]
Chr22:36714312 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4077C>T (p.Ile1359=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144720]|MYH9-related disorder [RCV001144721]|not provided [RCV002557090] |
Chr22:36293347 [GRCh38]
Chr22:36689393 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.333+14G>A |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148411]|MYH9-related disorder [RCV001148410]|not provided [RCV002557179] |
Chr22:36348890 [GRCh38]
Chr22:36744935 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1960C>G (p.Leu654Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001198707] |
Chr22:36306491 [GRCh38]
Chr22:36702537 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149750]|MYH9-related disorder [RCV001149749] |
Chr22:36312222 [GRCh38]
Chr22:36708267 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.115A>G (p.Ser39Gly) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149982]|MYH9-related disorder [RCV001149981]|not provided [RCV003669205] |
Chr22:36349122 [GRCh38]
Chr22:36745167 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.334-17G>T |
single nucleotide variant |
not specified [RCV001000711] |
Chr22:36341543 [GRCh38]
Chr22:36737588 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2977-10C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001151032]|MYH9-related disorder [RCV001151031] |
Chr22:36299052 [GRCh38]
Chr22:36695098 [GRCh37]
Chr22:22q12.3 |
benign|likely benign|uncertain significance |
| NM_002473.6(MYH9):c.101T>A (p.Val34Glu) |
single nucleotide variant |
May-Hegglin Disorder [RCV001174533] |
Chr22:36349136 [GRCh38]
Chr22:36745181 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.5489G>A (p.Arg1830His) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146312]|MYH9-related disorder [RCV001146311] |
Chr22:36284506 [GRCh38]
Chr22:36680552 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5785del (p.Val1929fs) |
deletion |
not provided [RCV001092003] |
Chr22:36282766 [GRCh38]
Chr22:36678812 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001144524]|MYH9-related disorder [RCV001144525] |
Chr22:36286820 [GRCh38]
Chr22:36682866 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2217G>C (p.Ala739=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149648]|MYH9-related disorder [RCV001149647] |
Chr22:36305045 [GRCh38]
Chr22:36701091 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.1555-15C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001149752]|MYH9-related disorder [RCV001149751] |
Chr22:36312237 [GRCh38]
Chr22:36708282 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002559285]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001200891]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484074]|not provided [RCV001558599] |
Chr22:36294228 [GRCh38]
Chr22:36690274 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*73C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146179]|MYH9-related disorder [RCV001146180] |
Chr22:36282595 [GRCh38]
Chr22:36678641 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*195T>C |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150390]|MYH9-related disorder [RCV001150391] |
Chr22:36282473 [GRCh38]
Chr22:36678519 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.5769C>T (p.Arg1923=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150498]|MYH9-related disorder [RCV001150499]|not provided [RCV003433041] |
Chr22:36282782 [GRCh38]
Chr22:36678828 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5829C>T (p.Ser1943=) |
single nucleotide variant |
not provided [RCV001091579] |
Chr22:36282722 [GRCh38]
Chr22:36678768 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.2500-9C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001146886]|MYH9-related disorder [RCV001146885]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002480541]|not provided [RCV003660857] |
Chr22:36301674 [GRCh38]
Chr22:36697720 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4728G>A (p.Arg1576=) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001150733]|MYH9-related disorder [RCV001150734] |
Chr22:36288769 [GRCh38]
Chr22:36684815 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*273C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148864]|MYH9-related disorder [RCV001148863] |
Chr22:36282395 [GRCh38]
Chr22:36678441 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*248C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001148866]|MYH9-related disorder [RCV001148865] |
Chr22:36282420 [GRCh38]
Chr22:36678466 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2000A>G (p.Asn667Ser) |
single nucleotide variant |
not provided [RCV001663440] |
Chr22:36306451 [GRCh38]
Chr22:36702497 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4489C>T (p.Arg1497Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280936]|not specified [RCV002509825] |
Chr22:36289153 [GRCh38]
Chr22:36685199 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 |
copy number gain |
See cases [RCV001263056] |
Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_002473.6(MYH9):c.3677G>C (p.Arg1226Pro) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV003136111]|not provided [RCV001572355] |
Chr22:36294252 [GRCh38]
Chr22:36690298 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.3013A>G (p.Thr1005Ala) |
single nucleotide variant |
Hearing impairment [RCV001375332] |
Chr22:36299006 [GRCh38]
Chr22:36695052 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1409A>G (p.Asn470Ser) |
single nucleotide variant |
not specified [RCV001358744] |
Chr22:36314290 [GRCh38]
Chr22:36710335 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1380+242G>C |
single nucleotide variant |
not provided [RCV001536175] |
Chr22:36316275 [GRCh38]
Chr22:36712320 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4096-16C>A |
single nucleotide variant |
not provided [RCV001812427] |
Chr22:36292250 [GRCh38]
Chr22:36688296 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.901C>T (p.Arg301Cys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001328950] |
Chr22:36320331 [GRCh38]
Chr22:36716376 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1013-196dup |
duplication |
not provided [RCV001581986] |
Chr22:36319826..36319827 [GRCh38]
Chr22:36715871..36715872 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.97T>C (p.Trp33Arg) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001328951] |
Chr22:36349140 [GRCh38]
Chr22:36745185 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002506525]|not provided [RCV003727996]|not specified [RCV001449823] |
Chr22:36285755 [GRCh38]
Chr22:36681801 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.5694C>T (p.Arg1898=) |
single nucleotide variant |
not provided [RCV002557524]|not specified [RCV001449847] |
Chr22:36284164 [GRCh38]
Chr22:36680210 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.3103C>T (p.Arg1035Cys) |
single nucleotide variant |
Hearing impairment [RCV001375233] |
Chr22:36297012 [GRCh38]
Chr22:36693058 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3786C>T (p.Asn1262=) |
single nucleotide variant |
not provided [RCV001532464] |
Chr22:36294143 [GRCh38]
Chr22:36690189 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1728+265G>A |
single nucleotide variant |
not provided [RCV001533953] |
Chr22:36311784 [GRCh38]
Chr22:36707829 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3100+36G>A |
single nucleotide variant |
not provided [RCV001545585] |
Chr22:36298883 [GRCh38]
Chr22:36694929 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2838+250G>A |
single nucleotide variant |
not provided [RCV001539735] |
Chr22:36300601 [GRCh38]
Chr22:36696647 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1109-289C>T |
single nucleotide variant |
not provided [RCV001614494] |
Chr22:36318614 [GRCh38]
Chr22:36714659 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1013-157C>T |
single nucleotide variant |
not provided [RCV001617354] |
Chr22:36319792 [GRCh38]
Chr22:36715837 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3837+112C>G |
single nucleotide variant |
not provided [RCV001679608] |
Chr22:36293980 [GRCh38]
Chr22:36690026 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2977-340G>A |
single nucleotide variant |
not provided [RCV001648880] |
Chr22:36299382 [GRCh38]
Chr22:36695428 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3273-11C>T |
single nucleotide variant |
not provided [RCV001588365] |
Chr22:36295728 [GRCh38]
Chr22:36691774 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1380+294C>T |
single nucleotide variant |
not provided [RCV001615575] |
Chr22:36316223 [GRCh38]
Chr22:36712268 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1555-216C>T |
single nucleotide variant |
not provided [RCV001655540] |
Chr22:36312438 [GRCh38]
Chr22:36708483 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.334-11C>G |
single nucleotide variant |
not provided [RCV001665091] |
Chr22:36341537 [GRCh38]
Chr22:36737582 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4770+51C>T |
single nucleotide variant |
not provided [RCV001710116] |
Chr22:36288676 [GRCh38]
Chr22:36684722 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+143A>G |
single nucleotide variant |
not provided [RCV001684887] |
Chr22:36311906 [GRCh38]
Chr22:36707951 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1554+145G>A |
single nucleotide variant |
not provided [RCV001688566] |
Chr22:36314000 [GRCh38]
Chr22:36710045 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5742C>T (p.Val1914=) |
single nucleotide variant |
MYH9-related disorder [RCV004536229]|not provided [RCV001590831] |
Chr22:36284116 [GRCh38]
Chr22:36680162 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.3631-143G>A |
single nucleotide variant |
not provided [RCV001708009] |
Chr22:36294441 [GRCh38]
Chr22:36690487 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1108+118C>T |
single nucleotide variant |
not provided [RCV001649444] |
Chr22:36319422 [GRCh38]
Chr22:36715467 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+308T>C |
single nucleotide variant |
not provided [RCV001652625] |
Chr22:36311741 [GRCh38]
Chr22:36707786 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4771-108G>A |
single nucleotide variant |
not provided [RCV001714816] |
Chr22:36288521 [GRCh38]
Chr22:36684567 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1843+287G>A |
single nucleotide variant |
not provided [RCV001687973] |
Chr22:36308995 [GRCh38]
Chr22:36705041 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1843+200G>A |
single nucleotide variant |
not provided [RCV001716269] |
Chr22:36309082 [GRCh38]
Chr22:36705128 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.612+152G>A |
single nucleotide variant |
not provided [RCV001675152] |
Chr22:36326416 [GRCh38]
Chr22:36722461 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1228-249T>C |
single nucleotide variant |
not provided [RCV001538994] |
Chr22:36316918 [GRCh38]
Chr22:36712963 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4344+280dup |
duplication |
not provided [RCV001536892] |
Chr22:36291683..36291684 [GRCh38]
Chr22:36687729..36687730 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2390+253T>C |
single nucleotide variant |
not provided [RCV001539341] |
Chr22:36303742 [GRCh38]
Chr22:36699788 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.584C>T (p.Ala195Val) |
single nucleotide variant |
MYH9-related disorder [RCV004733371]|not provided [RCV001756315] |
Chr22:36326596 [GRCh38]
Chr22:36722641 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3486G>T (p.Arg1162Ser) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245421] |
Chr22:36295076 [GRCh38]
Chr22:36691122 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV004584922]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503190]|not provided [RCV001756694] |
Chr22:36289290 [GRCh38]
Chr22:36685336 [GRCh37]
Chr22:22q12.3 |
pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.5773del (p.Asp1925fs) |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245416] |
Chr22:36282778 [GRCh38]
Chr22:36678824 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002273158] |
Chr22:36282763 [GRCh38]
Chr22:36678809 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3196_3207del (p.Glu1066_Ala1069del) |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245487] |
Chr22:36296908..36296919 [GRCh38]
Chr22:36692954..36692965 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) |
single nucleotide variant |
MYH9-related disorder [RCV004529108]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488627]|not specified [RCV002248025] |
Chr22:36285681 [GRCh38]
Chr22:36681727 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5555A>T (p.Asp1852Val) |
single nucleotide variant |
not provided [RCV003238513] |
Chr22:36284440 [GRCh38]
Chr22:36680486 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1109-6_1109-2del |
deletion |
MYH9-related disorder [RCV004728797]|not provided [RCV001752533] |
Chr22:36318327..36318331 [GRCh38]
Chr22:36714372..36714376 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5680C>A (p.Arg1894=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002254232] |
Chr22:36284178 [GRCh38]
Chr22:36680224 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488637]|not provided [RCV002255227] |
Chr22:36296934 [GRCh38]
Chr22:36692980 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.209A>C (p.Asp70Ala) |
single nucleotide variant |
not provided [RCV001758501] |
Chr22:36349028 [GRCh38]
Chr22:36745073 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5513G>A (p.Arg1838His) |
single nucleotide variant |
not provided [RCV001763796] |
Chr22:36284482 [GRCh38]
Chr22:36680528 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2054C>G (p.Pro685Arg) |
single nucleotide variant |
not provided [RCV001769437] |
Chr22:36306035 [GRCh38]
Chr22:36702081 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.770-10A>G |
single nucleotide variant |
not provided [RCV001767710] |
Chr22:36320906 [GRCh38]
Chr22:36716951 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.158A>C (p.Glu53Ala) |
single nucleotide variant |
not provided [RCV001754608] |
Chr22:36349079 [GRCh38]
Chr22:36745124 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5833G>A (p.Glu1945Lys) |
single nucleotide variant |
not provided [RCV001772569] |
Chr22:36282718 [GRCh38]
Chr22:36678764 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4741G>A (p.Glu1581Lys) |
single nucleotide variant |
not provided [RCV001752161] |
Chr22:36288756 [GRCh38]
Chr22:36684802 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5489_5490delinsTT (p.Arg1830Leu) |
indel |
not provided [RCV001770928] |
Chr22:36284505..36284506 [GRCh38]
Chr22:36680551..36680552 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4044G>C (p.Glu1348Asp) |
single nucleotide variant |
not provided [RCV001763339] |
Chr22:36293380 [GRCh38]
Chr22:36689426 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1306G>A (p.Ala436Thr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001733590] |
Chr22:36316591 [GRCh38]
Chr22:36712636 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004040215]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002488574]|not provided [RCV001767894] |
Chr22:36304089 [GRCh38]
Chr22:36700135 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4771G>C (p.Val1591Leu) |
single nucleotide variant |
not provided [RCV001786692] |
Chr22:36288413 [GRCh38]
Chr22:36684459 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3562C>G (p.Gln1188Glu) |
single nucleotide variant |
not provided [RCV001772544] |
Chr22:36295000 [GRCh38]
Chr22:36691046 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1648C>G (p.Gln550Glu) |
single nucleotide variant |
not provided [RCV001768450] |
Chr22:36312129 [GRCh38]
Chr22:36708174 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.278A>G (p.Asn93Ser) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503185]|not provided [RCV001754102] |
Chr22:36348959 [GRCh38]
Chr22:36745004 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5851G>A (p.Ala1951Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003346670]|MYH9-related disorder [RCV004536283]|not provided [RCV001752248] |
Chr22:36282700 [GRCh38]
Chr22:36678746 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.854G>C (p.Gly285Ala) |
single nucleotide variant |
not provided [RCV001768839] |
Chr22:36320812 [GRCh38]
Chr22:36716857 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1849C>T (p.Arg617Cys) |
single nucleotide variant |
not provided [RCV001752500] |
Chr22:36306602 [GRCh38]
Chr22:36702648 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5309G>T (p.Arg1770Leu) |
single nucleotide variant |
not provided [RCV001770617] |
Chr22:36285295 [GRCh38]
Chr22:36681341 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5363A>G (p.Lys1788Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004651714]|not provided [RCV001774400] |
Chr22:36285241 [GRCh38]
Chr22:36681287 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3592G>A (p.Val1198Met) |
single nucleotide variant |
not provided [RCV001765865] |
Chr22:36294970 [GRCh38]
Chr22:36691016 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3797G>A (p.Arg1266His) |
single nucleotide variant |
Inborn genetic diseases [RCV004651712]|not provided [RCV001765734] |
Chr22:36294132 [GRCh38]
Chr22:36690178 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2557_2558delinsCT (p.Glu853Leu) |
indel |
not provided [RCV001760673] |
Chr22:36301607..36301608 [GRCh38]
Chr22:36697653..36697654 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4792C>A (p.Leu1598Met) |
single nucleotide variant |
not provided [RCV001763730] |
Chr22:36288392 [GRCh38]
Chr22:36684438 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3601C>G (p.Leu1201Val) |
single nucleotide variant |
not provided [RCV001787435] |
Chr22:36294961 [GRCh38]
Chr22:36691007 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.268A>G (p.Thr90Ala) |
single nucleotide variant |
not provided [RCV001763651] |
Chr22:36348969 [GRCh38]
Chr22:36745014 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2391-35A>G |
single nucleotide variant |
not provided [RCV001787583] |
Chr22:36302711 [GRCh38]
Chr22:36698757 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1208A>G (p.Lys403Arg) |
single nucleotide variant |
not provided [RCV001795633] |
Chr22:36318226 [GRCh38]
Chr22:36714271 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3683A>T (p.Glu1228Val) |
single nucleotide variant |
not provided [RCV001815913] |
Chr22:36294246 [GRCh38]
Chr22:36690292 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3151C>T (p.Arg1051Trp) |
single nucleotide variant |
not provided [RCV001758232] |
Chr22:36296964 [GRCh38]
Chr22:36693010 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4271A>T (p.Asp1424Val) |
single nucleotide variant |
not provided [RCV001817872] |
Chr22:36292059 [GRCh38]
Chr22:36688105 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.1561C>T (p.Pro521Ser) |
single nucleotide variant |
not specified [RCV001822480] |
Chr22:36312216 [GRCh38]
Chr22:36708261 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3451A>G (p.Thr1151Ala) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280908]|not specified [RCV001819372] |
Chr22:36295539 [GRCh38]
Chr22:36691585 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.257T>A (p.Met86Lys) |
single nucleotide variant |
not provided [RCV001819666] |
Chr22:36348980 [GRCh38]
Chr22:36745025 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.4542T>G (p.Asp1514Glu) |
single nucleotide variant |
not specified [RCV001820343] |
Chr22:36289100 [GRCh38]
Chr22:36685146 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV001823503]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002489889] |
Chr22:36294201 [GRCh38]
Chr22:36690247 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5339_5341del (p.Arg1780del) |
deletion |
not provided [RCV001874343] |
Chr22:36285263..36285265 [GRCh38]
Chr22:36681309..36681311 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1178G>A (p.Arg393His) |
single nucleotide variant |
not provided [RCV001908740] |
Chr22:36318256 [GRCh38]
Chr22:36714301 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002482628]|not provided [RCV001892146] |
Chr22:36285759 [GRCh38]
Chr22:36681805 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.769+6C>T |
single nucleotide variant |
not provided [RCV001837668] |
Chr22:36321752 [GRCh38]
Chr22:36717797 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*589G>A |
single nucleotide variant |
not provided [RCV002052389] |
Chr22:36282079 [GRCh38]
Chr22:36678125 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.518+4A>G |
single nucleotide variant |
not provided [RCV001871307] |
Chr22:36327457 [GRCh38]
Chr22:36723502 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002482510]|not provided [RCV001911838] |
Chr22:36293824 [GRCh38]
Chr22:36689870 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002479804]|not provided [RCV002024359] |
Chr22:36298997 [GRCh38]
Chr22:36695043 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3623C>T (p.Thr1208Met) |
single nucleotide variant |
not provided [RCV001984257] |
Chr22:36294939 [GRCh38]
Chr22:36690985 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3205_3225del (p.Ala1069_Lys1075del) |
deletion |
not provided [RCV002024033] |
Chr22:36296890..36296910 [GRCh38]
Chr22:36692936..36692956 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4447C>T (p.Arg1483Trp) |
single nucleotide variant |
not provided [RCV001987049] |
Chr22:36289195 [GRCh38]
Chr22:36685241 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5184G>T (p.Glu1728Asp) |
single nucleotide variant |
Type 1 diabetes mellitus 17 [RCV001823273] |
Chr22:36285748 [GRCh38]
Chr22:36681794 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| GRCh37/hg19 22q12.3(chr22:36614412-36716248) |
copy number gain |
not specified [RCV002052754] |
Chr22:36614412..36716248 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3093C>G (p.Asp1031Glu) |
single nucleotide variant |
not provided [RCV002005785] |
Chr22:36298926 [GRCh38]
Chr22:36694972 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503632]|not provided [RCV001926830] |
Chr22:36295538 [GRCh38]
Chr22:36691584 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004041026]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV001837344]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503337]|not provided [RCV003772358] |
Chr22:36296922 [GRCh38]
Chr22:36692968 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5234C>T (p.Thr1745Met) |
single nucleotide variant |
not provided [RCV002000756] |
Chr22:36285698 [GRCh38]
Chr22:36681744 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002497947]|not provided [RCV002000639] |
Chr22:36288813 [GRCh38]
Chr22:36684859 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2070C>A (p.Asp690Glu) |
single nucleotide variant |
not provided [RCV001877479] |
Chr22:36306019 [GRCh38]
Chr22:36702065 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002486791]|not provided [RCV002032080] |
Chr22:36288287 [GRCh38]
Chr22:36684333 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1201G>A (p.Val401Ile) |
single nucleotide variant |
MYH9-related disorder [RCV004538603]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490223]|not provided [RCV001901743] |
Chr22:36318233 [GRCh38]
Chr22:36714278 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002503441]|not provided [RCV001899358] |
Chr22:36294252 [GRCh38]
Chr22:36690298 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2405G>A (p.Arg802Gln) |
single nucleotide variant |
MYH9-related disorder [RCV004529089]|not provided [RCV002016598]|not specified [RCV003331272] |
Chr22:36302662 [GRCh38]
Chr22:36698708 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2309A>G (p.His770Arg) |
single nucleotide variant |
not provided [RCV001897560] |
Chr22:36304076 [GRCh38]
Chr22:36700122 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3890G>A (p.Ser1297Asn) |
single nucleotide variant |
not provided [RCV001959291] |
Chr22:36293811 [GRCh38]
Chr22:36689857 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4670G>A (p.Arg1557Gln) |
single nucleotide variant |
not provided [RCV001988983] |
Chr22:36288827 [GRCh38]
Chr22:36684873 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002490002]|not provided [RCV001899870] |
Chr22:36285290 [GRCh38]
Chr22:36681336 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002484840]|not provided [RCV001990630] |
Chr22:36304122 [GRCh38]
Chr22:36700168 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4797G>C (p.Glu1599Asp) |
single nucleotide variant |
not provided [RCV001979877] |
Chr22:36288387 [GRCh38]
Chr22:36684433 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4196A>G (p.Gln1399Arg) |
single nucleotide variant |
not provided [RCV001884437] |
Chr22:36292134 [GRCh38]
Chr22:36688180 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002545350]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002489922]|not provided [RCV002050831] |
Chr22:36288301 [GRCh38]
Chr22:36684347 [GRCh37]
Chr22:22q12.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5431G>A (p.Ala1811Thr) |
single nucleotide variant |
not provided [RCV002014689] |
Chr22:36285173 [GRCh38]
Chr22:36681219 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2838+10C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498178]|not provided [RCV002187644] |
Chr22:36300841 [GRCh38]
Chr22:36696887 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5483+18C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500249]|not provided [RCV002125962] |
Chr22:36285103 [GRCh38]
Chr22:36681149 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.975C>T (p.Ala325=) |
single nucleotide variant |
not provided [RCV002168584] |
Chr22:36320257 [GRCh38]
Chr22:36716302 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1536C>T (p.Ile512=) |
single nucleotide variant |
not provided [RCV002111111] |
Chr22:36314163 [GRCh38]
Chr22:36710208 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2500-14A>T |
single nucleotide variant |
not provided [RCV002126521] |
Chr22:36301679 [GRCh38]
Chr22:36697725 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5328C>T (p.Asn1776=) |
single nucleotide variant |
not provided [RCV002148121] |
Chr22:36285276 [GRCh38]
Chr22:36681322 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4128T>C (p.Ser1376=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498307]|not provided [RCV002075787] |
Chr22:36292202 [GRCh38]
Chr22:36688248 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4884G>C (p.Ser1628=) |
single nucleotide variant |
not provided [RCV002191022] |
Chr22:36288300 [GRCh38]
Chr22:36684346 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5150+13del |
deletion |
not provided [RCV002169913] |
Chr22:36285852 [GRCh38]
Chr22:36681898 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.869-8C>T |
single nucleotide variant |
not provided [RCV002112430] |
Chr22:36320371 [GRCh38]
Chr22:36716416 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2501_2508dup (p.Leu837fs) |
duplication |
not provided [RCV002223431] |
Chr22:36301656..36301657 [GRCh38]
Chr22:36697702..36697703 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.5394G>A (p.Glu1798=) |
single nucleotide variant |
MYH9-related disorder [RCV004531310]|not provided [RCV002204978] |
Chr22:36285210 [GRCh38]
Chr22:36681256 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2591C>T (p.Ala864Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004046304]|MYH9-related disorder [RCV004531399]|not provided [RCV002120250] |
Chr22:36301574 [GRCh38]
Chr22:36697620 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002487026]|not provided [RCV002224634] |
Chr22:36294256 [GRCh38]
Chr22:36690302 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4272C>A (p.Asp1424Glu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245419] |
Chr22:36292058 [GRCh38]
Chr22:36688104 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.327C>T (p.Leu109=) |
single nucleotide variant |
not provided [RCV002205658] |
Chr22:36348910 [GRCh38]
Chr22:36744955 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1362C>T (p.Ala454=) |
single nucleotide variant |
not provided [RCV002188591] |
Chr22:36316535 [GRCh38]
Chr22:36712580 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5483+19G>A |
single nucleotide variant |
not provided [RCV002091585] |
Chr22:36285102 [GRCh38]
Chr22:36681148 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2844T>G (p.Leu948=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494234]|not provided [RCV002112973] |
Chr22:36300259 [GRCh38]
Chr22:36696305 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1012+20A>G |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002507843]|not provided [RCV002096905] |
Chr22:36320200 [GRCh38]
Chr22:36716245 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.706-6A>T |
single nucleotide variant |
not provided [RCV002089812] |
Chr22:36321827 [GRCh38]
Chr22:36717872 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4095+20C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002498239]|not provided [RCV002210230] |
Chr22:36293309 [GRCh38]
Chr22:36689355 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.4188C>G (p.Gly1396=) |
single nucleotide variant |
not provided [RCV002150699] |
Chr22:36292142 [GRCh38]
Chr22:36688188 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.705+8G>T |
single nucleotide variant |
not provided [RCV002113655] |
Chr22:36322421 [GRCh38]
Chr22:36718466 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2763G>A (p.Glu921=) |
single nucleotide variant |
not provided [RCV002192336] |
Chr22:36300926 [GRCh38]
Chr22:36696972 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.334-20T>C |
single nucleotide variant |
not provided [RCV002153819] |
Chr22:36341546 [GRCh38]
Chr22:36737591 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4050G>A (p.Glu1350=) |
single nucleotide variant |
not provided [RCV002092305] |
Chr22:36293374 [GRCh38]
Chr22:36689420 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2482T>C (p.Trp828Arg) |
single nucleotide variant |
Macrothrombocytopenia [RCV002254216]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002226406] |
Chr22:36302585 [GRCh38]
Chr22:36698631 [GRCh37]
Chr22:22q12.3 |
pathogenic|likely pathogenic |
| NM_002473.6(MYH9):c.2037+16G>T |
single nucleotide variant |
not provided [RCV002173240] |
Chr22:36306398 [GRCh38]
Chr22:36702444 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2028C>T (p.His676=) |
single nucleotide variant |
not provided [RCV002108721] |
Chr22:36306423 [GRCh38]
Chr22:36702469 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1518C>T (p.Leu506=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002494318]|not provided [RCV002150115] |
Chr22:36314181 [GRCh38]
Chr22:36710226 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1124C>T (p.Ser375Phe) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245340] |
Chr22:36318310 [GRCh38]
Chr22:36714355 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4731C>T (p.Asp1577=) |
single nucleotide variant |
not provided [RCV002179669] |
Chr22:36288766 [GRCh38]
Chr22:36684812 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2344G>A (p.Val782Ile) |
single nucleotide variant |
MYH9-related disorder [RCV004533975]|not provided [RCV002221780] |
|
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.1875C>T (p.Ala625=) |
single nucleotide variant |
not provided [RCV002138258] |
Chr22:36306576 [GRCh38]
Chr22:36702622 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1857C>T (p.Ile619=) |
single nucleotide variant |
not provided [RCV002182927] |
Chr22:36306594 [GRCh38]
Chr22:36702640 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002249107] |
Chr22:36305960 [GRCh38]
Chr22:36702006 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.3054C>T (p.Leu1018=) |
single nucleotide variant |
MYH9-related disorder [RCV004531454]|not provided [RCV002120548] |
Chr22:36298965 [GRCh38]
Chr22:36695011 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.651C>A (p.Ile217=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245479] |
Chr22:36322483 [GRCh38]
Chr22:36718528 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496189]|not provided [RCV002255222] |
Chr22:36288744 [GRCh38]
Chr22:36684790 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2230-19G>T |
single nucleotide variant |
not provided [RCV002175207] |
Chr22:36304174 [GRCh38]
Chr22:36700220 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.868+14C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002505824]|not provided [RCV002139094] |
Chr22:36320784 [GRCh38]
Chr22:36716829 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4511C>T (p.Thr1504Met) |
single nucleotide variant |
MYH9-related disorder [RCV004543902]|not provided [RCV002161367] |
Chr22:36289131 [GRCh38]
Chr22:36685177 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3272+19C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500382]|not provided [RCV002180966] |
Chr22:36296824 [GRCh38]
Chr22:36692870 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2230-20G>A |
single nucleotide variant |
not provided [RCV002141019] |
Chr22:36304175 [GRCh38]
Chr22:36700221 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4179C>T (p.Asp1393=) |
single nucleotide variant |
not provided [RCV002098777] |
Chr22:36292151 [GRCh38]
Chr22:36688197 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5451A>G (p.Ala1817=) |
single nucleotide variant |
not provided [RCV002099322] |
Chr22:36285153 [GRCh38]
Chr22:36681199 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.504A>G (p.Gln168=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002502032]|not provided [RCV003093867]|not specified [RCV002222869] |
Chr22:36327475 [GRCh38]
Chr22:36723520 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.490+10G>A |
single nucleotide variant |
not provided [RCV002119465] |
Chr22:36341360 [GRCh38]
Chr22:36737405 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4558-11C>G |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002500358]|not provided [RCV002159329] |
Chr22:36288950 [GRCh38]
Chr22:36684996 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1728+16G>A |
single nucleotide variant |
not provided [RCV002104167] |
Chr22:36312033 [GRCh38]
Chr22:36708078 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1333G>A (p.Ala445Thr) |
single nucleotide variant |
not provided [RCV003114726] |
Chr22:36316564 [GRCh38]
Chr22:36712609 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2159+7C>T |
single nucleotide variant |
not provided [RCV003115398] |
Chr22:36305923 [GRCh38]
Chr22:36701969 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NC_000022.10:g.(?_35776672)_(42486826_?)dup |
duplication |
Adenylosuccinate lyase deficiency [RCV003119093] |
Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2 |
uncertain significance |
| NM_002473.6(MYH9):c.5115G>A (p.Glu1705=) |
single nucleotide variant |
MYH9-related disorder [RCV004733611]|not provided [RCV003120299] |
Chr22:36285900 [GRCh38]
Chr22:36681946 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3193G>T (p.Ala1065Ser) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003152828] |
Chr22:36296922 [GRCh38]
Chr22:36692968 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3672C>A (p.Asn1224Lys) |
single nucleotide variant |
not provided [RCV003129361] |
Chr22:36294257 [GRCh38]
Chr22:36690303 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3428C>T (p.Ala1143Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245325] |
Chr22:36295562 [GRCh38]
Chr22:36691608 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2725_2726del (p.Lys909fs) |
deletion |
not specified [RCV002248026] |
Chr22:36300963..36300964 [GRCh38]
Chr22:36697009..36697010 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.284C>T (p.Ala95Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002245333] |
Chr22:36348953 [GRCh38]
Chr22:36744998 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2440C>T (p.Arg814Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003152966] |
Chr22:36302627 [GRCh38]
Chr22:36698673 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2707C>T (p.Arg903Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002254229] |
Chr22:36300982 [GRCh38]
Chr22:36697028 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4250G>A (p.Arg1417Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002254231]|not provided [RCV003094168] |
Chr22:36292080 [GRCh38]
Chr22:36688126 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.566A>G (p.Gln189Arg) |
single nucleotide variant |
not provided [RCV002251626] |
Chr22:36326614 [GRCh38]
Chr22:36722659 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV002272861] |
Chr22:36295713 [GRCh38]
Chr22:36691759 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2655G>A (p.Leu885=) |
single nucleotide variant |
not provided [RCV002293066] |
Chr22:36301034 [GRCh38]
Chr22:36697080 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2807C>T (p.Ala936Val) |
single nucleotide variant |
not provided [RCV002288147] |
Chr22:36300882 [GRCh38]
Chr22:36696928 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.544G>A (p.Glu182Lys) |
single nucleotide variant |
not provided [RCV002297092] |
Chr22:36326636 [GRCh38]
Chr22:36722681 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2285_2288delinsGGCCACA (p.Phe762_Phe763delinsTrpProHis) |
indel |
not provided [RCV002276435] |
Chr22:36304097..36304100 [GRCh38]
Chr22:36700143..36700146 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2153G>A (p.Arg718Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002264878]|not provided [RCV003708630] |
Chr22:36305936 [GRCh38]
Chr22:36701982 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5179C>A (p.Leu1727Met) |
single nucleotide variant |
not provided [RCV002291942] |
Chr22:36285753 [GRCh38]
Chr22:36681799 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.277A>G (p.Asn93Asp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280940]|not specified [RCV004690281] |
Chr22:36348960 [GRCh38]
Chr22:36745005 [GRCh37]
Chr22:22q12.3 |
pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.54C>G (p.Asn18Lys) |
single nucleotide variant |
not provided [RCV002273441] |
Chr22:36349183 [GRCh38]
Chr22:36745228 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2976+9C>T |
single nucleotide variant |
MYH9-related disorder [RCV004545278]|not provided [RCV003096364]|not specified [RCV002283429] |
Chr22:36300118 [GRCh38]
Chr22:36696164 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4199G>T (p.Arg1400Leu) |
single nucleotide variant |
not provided [RCV002287063] |
Chr22:36292131 [GRCh38]
Chr22:36688177 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004641951]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002496207]|not provided [RCV002267282] |
Chr22:36300976 [GRCh38]
Chr22:36697022 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.2499+4C>T |
single nucleotide variant |
Kidney disorder [RCV002294666]|not provided [RCV003097859] |
Chr22:36302564 [GRCh38]
Chr22:36698610 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280935] |
Chr22:36300982 [GRCh38]
Chr22:36697028 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.5765+2T>C |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280938] |
Chr22:36284091 [GRCh38]
Chr22:36680137 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.4546G>A (p.Val1516Met) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002266358] |
Chr22:36289096 [GRCh38]
Chr22:36685142 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.719G>T (p.Arg240Leu) |
single nucleotide variant |
not provided [RCV002297132] |
Chr22:36321808 [GRCh38]
Chr22:36717853 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5805C>T (p.Ala1935=) |
single nucleotide variant |
not provided [RCV002260818] |
Chr22:36282746 [GRCh38]
Chr22:36678792 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5629C>T (p.Arg1877Trp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002289449]|not provided [RCV003097782] |
Chr22:36284229 [GRCh38]
Chr22:36680275 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.167_169del (p.Val56del) |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002261475] |
Chr22:36349068..36349070 [GRCh38]
Chr22:36745113..36745115 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.4712G>A (p.Arg1571Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002280939] |
Chr22:36288785 [GRCh38]
Chr22:36684831 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.4024C>G (p.Arg1342Gly) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002288394] |
Chr22:36293400 [GRCh38]
Chr22:36689446 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3703G>A (p.Val1235Met) |
single nucleotide variant |
not provided [RCV003129083] |
Chr22:36294226 [GRCh38]
Chr22:36690272 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val) |
single nucleotide variant |
MYH9-related disorder [RCV004733509]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002472268] |
Chr22:36284201 [GRCh38]
Chr22:36680247 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4258C>G (p.Gln1420Glu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471762] |
Chr22:36292072 [GRCh38]
Chr22:36688118 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2548A>G (p.Lys850Glu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003152979] |
Chr22:36301617 [GRCh38]
Chr22:36697663 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471385]|not provided [RCV002571453] |
Chr22:36300138 [GRCh38]
Chr22:36696184 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| GRCh37/hg19 22q12.3(chr22:36751242-36971521)x3 |
copy number gain |
not provided [RCV002473502] |
Chr22:36751242..36971521 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002471315]|not provided [RCV002571449] |
Chr22:36300183 [GRCh38]
Chr22:36696229 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| GRCh37/hg19 22q12.3(chr22:36693899-36963432)x3 |
copy number gain |
not provided [RCV002472427] |
Chr22:36693899..36963432 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4660G>T (p.Ala1554Ser) |
single nucleotide variant |
not provided [RCV002299552] |
Chr22:36288837 [GRCh38]
Chr22:36684883 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.626G>A (p.Arg209Gln) |
single nucleotide variant |
not provided [RCV002300809] |
Chr22:36322508 [GRCh38]
Chr22:36718553 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5807G>A (p.Arg1936Gln) |
single nucleotide variant |
not provided [RCV002306160] |
Chr22:36282744 [GRCh38]
Chr22:36678790 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.4446C>G (p.Ala1482=) |
single nucleotide variant |
not provided [RCV002309002] |
Chr22:36289196 [GRCh38]
Chr22:36685242 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.50T>C (p.Ile17Thr) |
single nucleotide variant |
not provided [RCV002301554] |
Chr22:36349187 [GRCh38]
Chr22:36745232 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4310G>A (p.Cys1437Tyr) |
single nucleotide variant |
not provided [RCV002299579] |
Chr22:36292020 [GRCh38]
Chr22:36688066 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3485+3G>T |
single nucleotide variant |
not provided [RCV003074681] |
Chr22:36295502 [GRCh38]
Chr22:36691548 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3942+17G>C |
single nucleotide variant |
not provided [RCV002841955] |
Chr22:36293742 [GRCh38]
Chr22:36689788 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3100+13C>T |
single nucleotide variant |
not provided [RCV002771556] |
Chr22:36298906 [GRCh38]
Chr22:36694952 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4948T>C (p.Cys1650Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002752688] |
Chr22:36286831 [GRCh38]
Chr22:36682877 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2449G>A (p.Ala817Thr) |
single nucleotide variant |
MYH9-related disorder [RCV004529161]|not provided [RCV002685858] |
Chr22:36302618 [GRCh38]
Chr22:36698664 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2424C>T (p.Ala808=) |
single nucleotide variant |
not provided [RCV002880363] |
Chr22:36302643 [GRCh38]
Chr22:36698689 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3546C>G (p.Thr1182=) |
single nucleotide variant |
not provided [RCV002681154] |
Chr22:36295016 [GRCh38]
Chr22:36691062 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.663C>T (p.Phe221=) |
single nucleotide variant |
not provided [RCV002616195] |
Chr22:36322471 [GRCh38]
Chr22:36718516 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1728+13C>A |
single nucleotide variant |
not provided [RCV002947699] |
Chr22:36312036 [GRCh38]
Chr22:36708081 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.54C>A (p.Asn18Lys) |
single nucleotide variant |
not provided [RCV002819416] |
Chr22:36349183 [GRCh38]
Chr22:36745228 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3844C>G (p.Leu1282Val) |
single nucleotide variant |
not provided [RCV002727002] |
Chr22:36293857 [GRCh38]
Chr22:36689903 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.497A>G (p.Glu166Gly) |
single nucleotide variant |
not provided [RCV002511211] |
Chr22:36327482 [GRCh38]
Chr22:36723527 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1794A>G (p.Thr598=) |
single nucleotide variant |
not provided [RCV002618925] |
Chr22:36309331 [GRCh38]
Chr22:36705376 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.289G>T (p.Val97Leu) |
single nucleotide variant |
not provided [RCV002617963] |
Chr22:36348948 [GRCh38]
Chr22:36744993 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3485+6C>T |
single nucleotide variant |
not provided [RCV002614403] |
Chr22:36295499 [GRCh38]
Chr22:36691545 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.612+12A>G |
single nucleotide variant |
not provided [RCV002862991] |
Chr22:36326556 [GRCh38]
Chr22:36722601 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5721C>T (p.Ala1907=) |
single nucleotide variant |
not provided [RCV002775371] |
Chr22:36284137 [GRCh38]
Chr22:36680183 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1827G>A (p.Ser609=) |
single nucleotide variant |
not provided [RCV002904680] |
Chr22:36309298 [GRCh38]
Chr22:36705343 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1200C>T (p.Tyr400=) |
single nucleotide variant |
not provided [RCV002751180] |
Chr22:36318234 [GRCh38]
Chr22:36714279 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5663G>A (p.Arg1888Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002752533] |
Chr22:36284195 [GRCh38]
Chr22:36680241 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4617G>T (p.Thr1539=) |
single nucleotide variant |
not provided [RCV002839295] |
Chr22:36288880 [GRCh38]
Chr22:36684926 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5597A>G (p.Asp1866Gly) |
single nucleotide variant |
not provided [RCV003014482] |
Chr22:36284261 [GRCh38]
Chr22:36680307 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.706-19G>A |
single nucleotide variant |
not provided [RCV002776031] |
Chr22:36321840 [GRCh38]
Chr22:36717885 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1738A>G (p.Lys580Glu) |
single nucleotide variant |
not provided [RCV002843169] |
Chr22:36309387 [GRCh38]
Chr22:36705432 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.595A>G (p.Lys199Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002883161] |
Chr22:36326585 [GRCh38]
Chr22:36722630 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.871G>A (p.Asp291Asn) |
single nucleotide variant |
not provided [RCV002614210] |
Chr22:36320361 [GRCh38]
Chr22:36716406 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1260G>A (p.Ala420=) |
single nucleotide variant |
not provided [RCV002690177] |
Chr22:36316637 [GRCh38]
Chr22:36712682 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2468G>A (p.Arg823Gln) |
single nucleotide variant |
not provided [RCV002755545] |
Chr22:36302599 [GRCh38]
Chr22:36698645 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1108+20G>A |
single nucleotide variant |
not provided [RCV002617816] |
Chr22:36319520 [GRCh38]
Chr22:36715565 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1019T>C (p.Leu340Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002865290] |
Chr22:36319629 [GRCh38]
Chr22:36715674 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4802A>C (p.Glu1601Ala) |
single nucleotide variant |
not provided [RCV002863843] |
Chr22:36288382 [GRCh38]
Chr22:36684428 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3853G>A (p.Val1285Met) |
single nucleotide variant |
not provided [RCV002461864] |
Chr22:36293848 [GRCh38]
Chr22:36689894 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1416C>T (p.Thr472=) |
single nucleotide variant |
not provided [RCV002847866] |
Chr22:36314283 [GRCh38]
Chr22:36710328 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5000A>G (p.Gln1667Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002822145] |
Chr22:36286779 [GRCh38]
Chr22:36682825 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.705+17C>T |
single nucleotide variant |
not provided [RCV002572160] |
Chr22:36322412 [GRCh38]
Chr22:36718457 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5316C>T (p.His1772=) |
single nucleotide variant |
not provided [RCV002740492] |
Chr22:36285288 [GRCh38]
Chr22:36681334 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2019C>T (p.Ile673=) |
single nucleotide variant |
not provided [RCV002640095] |
Chr22:36306432 [GRCh38]
Chr22:36702478 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4692C>T (p.Ala1564=) |
single nucleotide variant |
MYH9-related disorder [RCV004534120]|not provided [RCV002572096] |
Chr22:36288805 [GRCh38]
Chr22:36684851 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4839G>A (p.Lys1613=) |
single nucleotide variant |
not provided [RCV003054924] |
Chr22:36288345 [GRCh38]
Chr22:36684391 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3195C>T (p.Ala1065=) |
single nucleotide variant |
not provided [RCV002735766] |
Chr22:36296920 [GRCh38]
Chr22:36692966 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.922G>A (p.Val308Ile) |
single nucleotide variant |
not provided [RCV002527118] |
Chr22:36320310 [GRCh38]
Chr22:36716355 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4061A>C (p.Asn1354Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002782087] |
Chr22:36293363 [GRCh38]
Chr22:36689409 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5659C>G (p.Gln1887Glu) |
single nucleotide variant |
not provided [RCV002999861] |
Chr22:36284199 [GRCh38]
Chr22:36680245 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2977-16A>G |
single nucleotide variant |
not provided [RCV003037755] |
Chr22:36299058 [GRCh38]
Chr22:36695104 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4222T>C (p.Tyr1408His) |
single nucleotide variant |
not provided [RCV003720646]|not specified [RCV002510284] |
Chr22:36292108 [GRCh38]
Chr22:36688154 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3706C>T (p.Leu1236=) |
single nucleotide variant |
not provided [RCV002621765] |
Chr22:36294223 [GRCh38]
Chr22:36690269 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3183C>T (p.Ser1061=) |
single nucleotide variant |
not provided [RCV002694850] |
Chr22:36296932 [GRCh38]
Chr22:36692978 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5048T>C (p.Ile1683Thr) |
single nucleotide variant |
not provided [RCV002621596] |
Chr22:36286731 [GRCh38]
Chr22:36682777 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5151-15C>T |
single nucleotide variant |
not provided [RCV002796203] |
Chr22:36285796 [GRCh38]
Chr22:36681842 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3816C>T (p.Ala1272=) |
single nucleotide variant |
not provided [RCV002976567] |
Chr22:36294113 [GRCh38]
Chr22:36690159 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+20C>T |
single nucleotide variant |
not provided [RCV002795609] |
Chr22:36284073 [GRCh38]
Chr22:36680119 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2208G>A (p.Gly736=) |
single nucleotide variant |
not provided [RCV002590918] |
Chr22:36305054 [GRCh38]
Chr22:36701100 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4419G>A (p.Glu1473=) |
single nucleotide variant |
not provided [RCV002695826] |
Chr22:36289223 [GRCh38]
Chr22:36685269 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3159G>T (p.Leu1053=) |
single nucleotide variant |
not provided [RCV002913736] |
Chr22:36296956 [GRCh38]
Chr22:36693002 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3065A>G (p.Lys1022Arg) |
single nucleotide variant |
not provided [RCV002619562] |
Chr22:36298954 [GRCh38]
Chr22:36695000 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1728+15C>T |
single nucleotide variant |
not provided [RCV002570200] |
Chr22:36312034 [GRCh38]
Chr22:36708079 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2104C>G (p.Arg702Gly) |
single nucleotide variant |
not provided [RCV002824365] |
Chr22:36305985 [GRCh38]
Chr22:36702031 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.2976+18C>T |
single nucleotide variant |
not provided [RCV002570862] |
Chr22:36300109 [GRCh38]
Chr22:36696155 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1883C>T (p.Ser628Leu) |
single nucleotide variant |
not provided [RCV002785423] |
Chr22:36306568 [GRCh38]
Chr22:36702614 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1092C>T (p.Ser364=) |
single nucleotide variant |
not provided [RCV002705221] |
Chr22:36319556 [GRCh38]
Chr22:36715601 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.418G>T (p.Gly140Cys) |
single nucleotide variant |
not provided [RCV002824797] |
Chr22:36341442 [GRCh38]
Chr22:36737487 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4233G>A (p.Leu1411=) |
single nucleotide variant |
not provided [RCV003036892] |
Chr22:36292097 [GRCh38]
Chr22:36688143 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5075C>T (p.Ala1692Val) |
single nucleotide variant |
not provided [RCV002621076] |
Chr22:36285940 [GRCh38]
Chr22:36681986 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3474G>A (p.Gln1158=) |
single nucleotide variant |
not provided [RCV002706562] |
Chr22:36295516 [GRCh38]
Chr22:36691562 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1785C>T (p.Asn595=) |
single nucleotide variant |
not provided [RCV002884987] |
Chr22:36309340 [GRCh38]
Chr22:36705385 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4947C>T (p.Asp1649=) |
single nucleotide variant |
not provided [RCV002619852] |
Chr22:36286832 [GRCh38]
Chr22:36682878 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3943-8G>T |
single nucleotide variant |
not provided [RCV002866369] |
Chr22:36293489 [GRCh38]
Chr22:36689535 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4337T>C (p.Phe1446Ser) |
single nucleotide variant |
not provided [RCV002976102] |
Chr22:36291993 [GRCh38]
Chr22:36688039 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4558-11C>A |
single nucleotide variant |
not provided [RCV002622007] |
Chr22:36288950 [GRCh38]
Chr22:36684996 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2040C>T (p.Ala680=) |
single nucleotide variant |
not provided [RCV002592872] |
Chr22:36306049 [GRCh38]
Chr22:36702095 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2259G>T (p.Leu753=) |
single nucleotide variant |
not provided [RCV002638742] |
Chr22:36304126 [GRCh38]
Chr22:36700172 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5073C>T (p.Ala1691=) |
single nucleotide variant |
not provided [RCV002913586] |
Chr22:36285942 [GRCh38]
Chr22:36681988 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2216C>T (p.Ala739Val) |
single nucleotide variant |
not provided [RCV002976249] |
Chr22:36305046 [GRCh38]
Chr22:36701092 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2037+4C>T |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003988882]|not provided [RCV002622250] |
Chr22:36306410 [GRCh38]
Chr22:36702456 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3870C>T (p.Ser1290=) |
single nucleotide variant |
not provided [RCV002691200] |
Chr22:36293831 [GRCh38]
Chr22:36689877 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1889C>T (p.Thr630Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002661454] |
Chr22:36306562 [GRCh38]
Chr22:36702608 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2159+14C>T |
single nucleotide variant |
not provided [RCV002576189] |
Chr22:36305916 [GRCh38]
Chr22:36701962 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3105C>G (p.Arg1035=) |
single nucleotide variant |
not provided [RCV002829263] |
Chr22:36297010 [GRCh38]
Chr22:36693056 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5151-14C>T |
single nucleotide variant |
not provided [RCV002800797] |
Chr22:36285795 [GRCh38]
Chr22:36681841 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5559C>T (p.Asp1853=) |
single nucleotide variant |
not provided [RCV002595066] |
Chr22:36284436 [GRCh38]
Chr22:36680482 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4770+12C>T |
single nucleotide variant |
not provided [RCV002576393] |
Chr22:36288715 [GRCh38]
Chr22:36684761 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4693A>G (p.Met1565Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003006932] |
Chr22:36288804 [GRCh38]
Chr22:36684850 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.299A>T (p.Asn100Ile) |
single nucleotide variant |
not provided [RCV003043553] |
Chr22:36348938 [GRCh38]
Chr22:36744983 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.490+9C>T |
single nucleotide variant |
not provided [RCV002830036] |
Chr22:36341361 [GRCh38]
Chr22:36737406 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.518+15G>A |
single nucleotide variant |
not provided [RCV002575369] |
Chr22:36327446 [GRCh38]
Chr22:36723491 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3288T>C (p.Ala1096=) |
single nucleotide variant |
not provided [RCV002667676] |
Chr22:36295702 [GRCh38]
Chr22:36691748 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4872G>A (p.Ala1624=) |
single nucleotide variant |
not provided [RCV002595933] |
Chr22:36288312 [GRCh38]
Chr22:36684358 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2579A>G (p.Lys860Arg) |
single nucleotide variant |
not provided [RCV002829326] |
Chr22:36301586 [GRCh38]
Chr22:36697632 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5361C>A (p.Asn1787Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002825810]|not provided [RCV003720676] |
Chr22:36285243 [GRCh38]
Chr22:36681289 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.2125C>T (p.Pro709Ser) |
single nucleotide variant |
not provided [RCV002850964] |
Chr22:36305964 [GRCh38]
Chr22:36702010 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4380T>C (p.Tyr1460=) |
single nucleotide variant |
not provided [RCV002595416] |
Chr22:36289262 [GRCh38]
Chr22:36685308 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4975G>A (p.Ala1659Thr) |
single nucleotide variant |
MYH9-related disorder [RCV004529151]|not provided [RCV002573886] |
Chr22:36286804 [GRCh38]
Chr22:36682850 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2052C>T (p.Asp684=) |
single nucleotide variant |
not provided [RCV002623678] |
Chr22:36306037 [GRCh38]
Chr22:36702083 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4407G>A (p.Ala1469=) |
single nucleotide variant |
not provided [RCV003083816] |
Chr22:36289235 [GRCh38]
Chr22:36685281 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2267T>C (p.Ile756Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002640707]|not provided [RCV002625227] |
Chr22:36304118 [GRCh38]
Chr22:36700164 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5329G>A (p.Glu1777Lys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003989783]|not provided [RCV002711610] |
Chr22:36285275 [GRCh38]
Chr22:36681321 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4341C>A (p.Asp1447Glu) |
single nucleotide variant |
not provided [RCV003043289] |
Chr22:36291989 [GRCh38]
Chr22:36688035 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.117T>G (p.Ser39Arg) |
single nucleotide variant |
not provided [RCV003056982]|not specified [RCV004587411] |
Chr22:36349120 [GRCh38]
Chr22:36745165 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.5317G>A (p.Ala1773Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003060598]|not provided [RCV003059016]|not specified [RCV004526959] |
Chr22:36285287 [GRCh38]
Chr22:36681333 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3868A>G (p.Ser1290Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004066792]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003340532]|not provided [RCV002663349] |
Chr22:36293833 [GRCh38]
Chr22:36689879 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5080C>T (p.Arg1694Cys) |
single nucleotide variant |
not provided [RCV002626078] |
Chr22:36285935 [GRCh38]
Chr22:36681981 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2054C>T (p.Pro685Leu) |
single nucleotide variant |
not provided [RCV002594409] |
Chr22:36306035 [GRCh38]
Chr22:36702081 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5121T>C (p.Ala1707=) |
single nucleotide variant |
not provided [RCV002642604] |
Chr22:36285894 [GRCh38]
Chr22:36681940 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5275-6C>T |
single nucleotide variant |
not provided [RCV002853452] |
Chr22:36285335 [GRCh38]
Chr22:36681381 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5269C>T (p.Leu1757=) |
single nucleotide variant |
not provided [RCV002766400] |
Chr22:36285663 [GRCh38]
Chr22:36681709 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4922G>T (p.Arg1641Leu) |
single nucleotide variant |
not provided [RCV002508531] |
Chr22:36288262 [GRCh38]
Chr22:36684308 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.930C>T (p.Ile310=) |
single nucleotide variant |
not provided [RCV002805502] |
Chr22:36320302 [GRCh38]
Chr22:36716347 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5124C>T (p.Asp1708=) |
single nucleotide variant |
MYH9-related disorder [RCV004536474]|not provided [RCV002958163] |
Chr22:36285891 [GRCh38]
Chr22:36681937 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5781G>A (p.Pro1927=) |
single nucleotide variant |
not provided [RCV003085204] |
Chr22:36282770 [GRCh38]
Chr22:36678816 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3540C>G (p.Ala1180=) |
single nucleotide variant |
not provided [RCV002701046] |
Chr22:36295022 [GRCh38]
Chr22:36691068 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5301C>T (p.Asn1767=) |
single nucleotide variant |
not provided [RCV002850924] |
Chr22:36285303 [GRCh38]
Chr22:36681349 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5736C>T (p.Arg1912=) |
single nucleotide variant |
not provided [RCV002643571] |
Chr22:36284122 [GRCh38]
Chr22:36680168 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1617C>T (p.Asp539=) |
single nucleotide variant |
not provided [RCV002871924] |
Chr22:36312160 [GRCh38]
Chr22:36708205 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3248A>T (p.Glu1083Val) |
single nucleotide variant |
not provided [RCV002508632] |
Chr22:36296867 [GRCh38]
Chr22:36692913 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3737A>G (p.Lys1246Arg) |
single nucleotide variant |
not provided [RCV003007829] |
Chr22:36294192 [GRCh38]
Chr22:36690238 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1614C>T (p.Thr538=) |
single nucleotide variant |
not provided [RCV002593907] |
Chr22:36312163 [GRCh38]
Chr22:36708208 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2399C>T (p.Ala800Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002697361] |
Chr22:36302668 [GRCh38]
Chr22:36698714 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4356G>A (p.Glu1452=) |
single nucleotide variant |
not provided [RCV002575879] |
Chr22:36289286 [GRCh38]
Chr22:36685332 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2398G>T (p.Ala800Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002697360] |
Chr22:36302669 [GRCh38]
Chr22:36698715 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4707C>T (p.Phe1569=) |
single nucleotide variant |
not provided [RCV003083815] |
Chr22:36288790 [GRCh38]
Chr22:36684836 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1481G>A (p.Arg494His) |
single nucleotide variant |
not provided [RCV002575348] |
Chr22:36314218 [GRCh38]
Chr22:36710263 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1850G>A (p.Arg617His) |
single nucleotide variant |
not provided [RCV002623383] |
Chr22:36306601 [GRCh38]
Chr22:36702647 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.334-12T>C |
single nucleotide variant |
not provided [RCV002578868] |
Chr22:36341538 [GRCh38]
Chr22:36737583 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2838+16A>G |
single nucleotide variant |
not provided [RCV002630916] |
Chr22:36300835 [GRCh38]
Chr22:36696881 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1884G>A (p.Ser628=) |
single nucleotide variant |
not provided [RCV002967255] |
Chr22:36306567 [GRCh38]
Chr22:36702613 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.705+12G>A |
single nucleotide variant |
not provided [RCV002631141] |
Chr22:36322417 [GRCh38]
Chr22:36718462 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5150+10G>T |
single nucleotide variant |
not provided [RCV002857296] |
Chr22:36285855 [GRCh38]
Chr22:36681901 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4392C>T (p.Arg1464=) |
single nucleotide variant |
not provided [RCV002631951] |
Chr22:36289250 [GRCh38]
Chr22:36685296 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1293G>A (p.Leu431=) |
single nucleotide variant |
not provided [RCV002721079] |
Chr22:36316604 [GRCh38]
Chr22:36712649 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.891C>T (p.Tyr297=) |
single nucleotide variant |
MYH9-related disorder [RCV004540497]|not provided [RCV003008928] |
Chr22:36320341 [GRCh38]
Chr22:36716386 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4307C>T (p.Ala1436Val) |
single nucleotide variant |
not provided [RCV002602086] |
Chr22:36292023 [GRCh38]
Chr22:36688069 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5360A>G (p.Asn1787Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004070617]|not provided [RCV002633078] |
Chr22:36285244 [GRCh38]
Chr22:36681290 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5483+5G>C |
single nucleotide variant |
not provided [RCV002633090] |
Chr22:36285116 [GRCh38]
Chr22:36681162 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2230-17C>T |
single nucleotide variant |
not provided [RCV002577389] |
Chr22:36304172 [GRCh38]
Chr22:36700218 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2159+15G>A |
single nucleotide variant |
not provided [RCV002598337] |
Chr22:36305915 [GRCh38]
Chr22:36701961 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1368C>T (p.Phe456=) |
single nucleotide variant |
not provided [RCV002599572] |
Chr22:36316529 [GRCh38]
Chr22:36712574 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1615G>A (p.Asp539Asn) |
single nucleotide variant |
not provided [RCV003091623] |
Chr22:36312162 [GRCh38]
Chr22:36708207 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.721A>G (p.Ile241Val) |
single nucleotide variant |
not provided [RCV002600078] |
Chr22:36321806 [GRCh38]
Chr22:36717851 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4101C>T (p.Ala1367=) |
single nucleotide variant |
not provided [RCV002577021] |
Chr22:36292229 [GRCh38]
Chr22:36688275 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4597C>A (p.Gln1533Lys) |
single nucleotide variant |
not provided [RCV002578344] |
Chr22:36288900 [GRCh38]
Chr22:36684946 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.1482C>T (p.Arg494=) |
single nucleotide variant |
not provided [RCV003028449] |
Chr22:36314217 [GRCh38]
Chr22:36710262 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2500-19_2500-14del |
deletion |
not provided [RCV002578824] |
Chr22:36301679..36301684 [GRCh38]
Chr22:36697725..36697730 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1935T>C (p.Thr645=) |
single nucleotide variant |
not provided [RCV002579823] |
Chr22:36306516 [GRCh38]
Chr22:36702562 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5406G>A (p.Lys1802=) |
single nucleotide variant |
not provided [RCV002598452] |
Chr22:36285198 [GRCh38]
Chr22:36681244 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4561C>G (p.His1521Asp) |
single nucleotide variant |
not provided [RCV002833353] |
Chr22:36288936 [GRCh38]
Chr22:36684982 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1102A>G (p.Asn368Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004070815]|not provided [RCV002629184] |
Chr22:36319546 [GRCh38]
Chr22:36715591 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3012C>T (p.Phe1004=) |
single nucleotide variant |
not provided [RCV002717344] |
Chr22:36299007 [GRCh38]
Chr22:36695053 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4981C>G (p.Arg1661Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002879180] |
Chr22:36286798 [GRCh38]
Chr22:36682844 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1843+18C>T |
single nucleotide variant |
not provided [RCV002600205] |
Chr22:36309264 [GRCh38]
Chr22:36705309 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2343C>T (p.Asp781=) |
single nucleotide variant |
not provided [RCV002600322] |
Chr22:36304042 [GRCh38]
Chr22:36700088 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5151-11C>T |
single nucleotide variant |
not provided [RCV002577866] |
Chr22:36285792 [GRCh38]
Chr22:36681838 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.955T>C (p.Phe319Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002648769] |
Chr22:36320277 [GRCh38]
Chr22:36716322 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1120G>A (p.Val374Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004642022]|not provided [RCV002746425] |
Chr22:36318314 [GRCh38]
Chr22:36714359 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1786A>G (p.Ile596Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004064520]|not provided [RCV002577876] |
Chr22:36309339 [GRCh38]
Chr22:36705384 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2078G>A (p.Arg693His) |
single nucleotide variant |
not provided [RCV002598233] |
Chr22:36306011 [GRCh38]
Chr22:36702057 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4781T>C (p.Met1594Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002807820] |
Chr22:36288403 [GRCh38]
Chr22:36684449 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3838-7G>A |
single nucleotide variant |
MYH9-related disorder [RCV004733552]|not provided [RCV002962443] |
Chr22:36293870 [GRCh38]
Chr22:36689916 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4963G>C (p.Asp1655His) |
single nucleotide variant |
not provided [RCV002895492] |
Chr22:36286816 [GRCh38]
Chr22:36682862 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.580G>A (p.Val194Met) |
single nucleotide variant |
not provided [RCV003045986] |
Chr22:36326600 [GRCh38]
Chr22:36722645 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2631+14C>T |
single nucleotide variant |
not provided [RCV003030057] |
Chr22:36301520 [GRCh38]
Chr22:36697566 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2449G>T (p.Ala817Ser) |
single nucleotide variant |
not provided [RCV002601878] |
Chr22:36302618 [GRCh38]
Chr22:36698664 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2632-19T>C |
single nucleotide variant |
not provided [RCV002806776] |
Chr22:36301076 [GRCh38]
Chr22:36697122 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2592G>A (p.Ala864=) |
single nucleotide variant |
not provided [RCV002579171] |
Chr22:36301573 [GRCh38]
Chr22:36697619 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2404C>T (p.Arg802Trp) |
single nucleotide variant |
MYH9-related disorder [RCV004536482]|not provided [RCV002966075] |
Chr22:36302663 [GRCh38]
Chr22:36698709 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.333+3A>G |
single nucleotide variant |
not provided [RCV003044125] |
Chr22:36348901 [GRCh38]
Chr22:36744946 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3943-9C>T |
single nucleotide variant |
not provided [RCV002601646] |
Chr22:36293490 [GRCh38]
Chr22:36689536 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2728A>C (p.Lys910Gln) |
single nucleotide variant |
not provided [RCV003064653] |
Chr22:36300961 [GRCh38]
Chr22:36697007 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.5131G>A (p.Ala1711Thr) |
single nucleotide variant |
not provided [RCV002580695] |
Chr22:36285884 [GRCh38]
Chr22:36681930 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4201C>T (p.His1401Tyr) |
single nucleotide variant |
not provided [RCV003061266] |
Chr22:36292129 [GRCh38]
Chr22:36688175 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3318C>T (p.Ile1106=) |
single nucleotide variant |
not provided [RCV002833322] |
Chr22:36295672 [GRCh38]
Chr22:36691718 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+15C>T |
single nucleotide variant |
not provided [RCV002650041] |
Chr22:36284078 [GRCh38]
Chr22:36680124 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2553G>A (p.Glu851=) |
single nucleotide variant |
not provided [RCV002899553] |
Chr22:36301612 [GRCh38]
Chr22:36697658 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5424C>T (p.Ser1808=) |
single nucleotide variant |
not provided [RCV002578641] |
Chr22:36285180 [GRCh38]
Chr22:36681226 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5706C>G (p.Asp1902Glu) |
single nucleotide variant |
not provided [RCV002716898] |
Chr22:36284152 [GRCh38]
Chr22:36680198 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5248G>A (p.Asp1750Asn) |
single nucleotide variant |
not provided [RCV002720935] |
Chr22:36285684 [GRCh38]
Chr22:36681730 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2856G>A (p.Leu952=) |
single nucleotide variant |
not provided [RCV002922359] |
Chr22:36300247 [GRCh38]
Chr22:36696293 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1096C>T (p.Pro366Ser) |
single nucleotide variant |
not provided [RCV002716605] |
Chr22:36319552 [GRCh38]
Chr22:36715597 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.869-12C>T |
single nucleotide variant |
not provided [RCV002577815] |
Chr22:36320375 [GRCh38]
Chr22:36716420 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5773G>A (p.Asp1925Asn) |
single nucleotide variant |
not provided [RCV003009752] |
Chr22:36282778 [GRCh38]
Chr22:36678824 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2976+17T>A |
single nucleotide variant |
not provided [RCV002600404] |
Chr22:36300110 [GRCh38]
Chr22:36696156 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2288T>G (p.Phe763Cys) |
single nucleotide variant |
not provided [RCV002675844] |
Chr22:36304097 [GRCh38]
Chr22:36700143 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.166G>T (p.Val56Leu) |
single nucleotide variant |
not provided [RCV002715492] |
Chr22:36349071 [GRCh38]
Chr22:36745116 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3316A>G (p.Ile1106Val) |
single nucleotide variant |
not provided [RCV002671973] |
Chr22:36295674 [GRCh38]
Chr22:36691720 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1891G>A (p.Ala631Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002587879]|not provided [RCV002598899] |
Chr22:36306560 [GRCh38]
Chr22:36702606 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5160G>A (p.Ala1720=) |
single nucleotide variant |
not provided [RCV002633841] |
Chr22:36285772 [GRCh38]
Chr22:36681818 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4582C>T (p.Arg1528Trp) |
single nucleotide variant |
not provided [RCV002942930] |
Chr22:36288915 [GRCh38]
Chr22:36684961 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5842G>C (p.Asp1948His) |
single nucleotide variant |
not provided [RCV002604209] |
Chr22:36282709 [GRCh38]
Chr22:36678755 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2239C>T (p.Leu747=) |
single nucleotide variant |
not provided [RCV002725880] |
Chr22:36304146 [GRCh38]
Chr22:36700192 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2390+10G>C |
single nucleotide variant |
not provided [RCV002634591] |
Chr22:36303985 [GRCh38]
Chr22:36700031 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.613-20C>T |
single nucleotide variant |
not provided [RCV002583656] |
Chr22:36322541 [GRCh38]
Chr22:36718586 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3912C>T (p.Ser1304=) |
single nucleotide variant |
MYH9-related disorder [RCV004540536]|not provided [RCV003069859] |
Chr22:36293789 [GRCh38]
Chr22:36689835 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.406G>A (p.Glu136Lys) |
single nucleotide variant |
not provided [RCV002654210] |
Chr22:36341454 [GRCh38]
Chr22:36737499 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5331G>A (p.Glu1777=) |
single nucleotide variant |
not provided [RCV002658350] |
Chr22:36285273 [GRCh38]
Chr22:36681319 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3858C>T (p.Thr1286=) |
single nucleotide variant |
not provided [RCV002585130] |
Chr22:36293843 [GRCh38]
Chr22:36689889 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1844-13G>A |
single nucleotide variant |
not provided [RCV002634425] |
Chr22:36306620 [GRCh38]
Chr22:36702666 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3148C>T (p.Arg1050Cys) |
single nucleotide variant |
not provided [RCV002654056] |
Chr22:36296967 [GRCh38]
Chr22:36693013 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3177C>A (p.Asp1059Glu) |
single nucleotide variant |
not provided [RCV002586745] |
Chr22:36296938 [GRCh38]
Chr22:36692984 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.870C>T (p.Thr290=) |
single nucleotide variant |
not provided [RCV002587968] |
Chr22:36320362 [GRCh38]
Chr22:36716407 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4339G>T (p.Asp1447Tyr) |
single nucleotide variant |
not provided [RCV003050581] |
Chr22:36291991 [GRCh38]
Chr22:36688037 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2487G>A (p.Arg829=) |
single nucleotide variant |
not provided [RCV003071948] |
Chr22:36302580 [GRCh38]
Chr22:36698626 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2391-10C>G |
single nucleotide variant |
not provided [RCV002588022] |
Chr22:36302686 [GRCh38]
Chr22:36698732 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.234C>G (p.Pro78=) |
single nucleotide variant |
not provided [RCV002607226] |
Chr22:36349003 [GRCh38]
Chr22:36745048 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1923C>T (p.Gly641=) |
single nucleotide variant |
not provided [RCV002611162] |
Chr22:36306528 [GRCh38]
Chr22:36702574 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3101-11dup |
duplication |
not provided [RCV002604622] |
Chr22:36297024..36297025 [GRCh38]
Chr22:36693070..36693071 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5670C>T (p.Asn1890=) |
single nucleotide variant |
not provided [RCV002589079] |
Chr22:36284188 [GRCh38]
Chr22:36680234 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2352A>G (p.Ile784Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002589166]|not provided [RCV002589167] |
Chr22:36304033 [GRCh38]
Chr22:36700079 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.4105A>G (p.Met1369Val) |
single nucleotide variant |
not provided [RCV002611640] |
Chr22:36292225 [GRCh38]
Chr22:36688271 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3317T>C (p.Ile1106Thr) |
single nucleotide variant |
not provided [RCV002658171] |
Chr22:36295673 [GRCh38]
Chr22:36691719 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4964A>G (p.Asp1655Gly) |
single nucleotide variant |
not provided [RCV002587516] |
Chr22:36286815 [GRCh38]
Chr22:36682861 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4557+11G>A |
single nucleotide variant |
not provided [RCV002589575] |
Chr22:36289074 [GRCh38]
Chr22:36685120 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.705+18G>A |
single nucleotide variant |
not provided [RCV002583431] |
Chr22:36322411 [GRCh38]
Chr22:36718456 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NC_000022.10:g.(?_36677322)_(36712715_36714251)dup |
duplication |
not specified [RCV003155757] |
Chr22:36677322..36712715 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3894G>T (p.Lys1298Asn) |
single nucleotide variant |
not provided [RCV003132786] |
Chr22:36293807 [GRCh38]
Chr22:36689853 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5854G>C (p.Asp1952His) |
single nucleotide variant |
not provided [RCV003131651] |
Chr22:36282697 [GRCh38]
Chr22:36678743 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002473.6(MYH9):c.5242A>T (p.Ile1748Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003257588] |
Chr22:36285690 [GRCh38]
Chr22:36681736 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5425A>C (p.Ile1809Leu) |
single nucleotide variant |
not provided [RCV003223112] |
Chr22:36285179 [GRCh38]
Chr22:36681225 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2062G>A (p.Val688Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003286972] |
Chr22:36306027 [GRCh38]
Chr22:36702073 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003225632] |
Chr22:36301009 [GRCh38]
Chr22:36697055 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2803C>G (p.Gln935Glu) |
single nucleotide variant |
not provided [RCV003131650] |
Chr22:36300886 [GRCh38]
Chr22:36696932 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.56A>G (p.Asn19Ser) |
single nucleotide variant |
not provided [RCV003159523] |
Chr22:36349181 [GRCh38]
Chr22:36745226 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4637A>G (p.Asp1546Gly) |
single nucleotide variant |
not provided [RCV003229194] |
Chr22:36288860 [GRCh38]
Chr22:36684906 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3323A>C (p.Glu1108Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003220053]|MYH9-related disorder [RCV004725683]|not provided [RCV003720802] |
Chr22:36295667 [GRCh38]
Chr22:36691713 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1876G>A (p.Gly626Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003202142] |
Chr22:36306575 [GRCh38]
Chr22:36702621 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4694T>C (p.Met1565Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003265583] |
Chr22:36288803 [GRCh38]
Chr22:36684849 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2545G>C (p.Ala849Pro) |
single nucleotide variant |
not specified [RCV003320522] |
Chr22:36301620 [GRCh38]
Chr22:36697666 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1967A>G (p.Lys656Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003264551] |
Chr22:36306484 [GRCh38]
Chr22:36702530 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5470G>A (p.Asp1824Asn) |
single nucleotide variant |
not provided [RCV003321135] |
Chr22:36285134 [GRCh38]
Chr22:36681180 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5793_5797dup (p.Arg1933fs) |
duplication |
MYH9-related disorder [RCV004528556] |
Chr22:36282753..36282754 [GRCh38]
Chr22:36678799..36678800 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2230-5C>T |
single nucleotide variant |
not provided [RCV003327098] |
Chr22:36304160 [GRCh38]
Chr22:36700206 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2161_2165del |
deletion |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003336018] |
Chr22:36305097..36305101 [GRCh38]
Chr22:36701143..36701147 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3145A>G (p.Thr1049Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003378683] |
Chr22:36296970 [GRCh38]
Chr22:36693016 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.36G>A (p.Val12=) |
single nucleotide variant |
MYH9-related disorder [RCV004534391] |
Chr22:36349201 [GRCh38]
Chr22:36745246 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV003333541]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003333542] |
Chr22:36288933 [GRCh38]
Chr22:36684979 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3673G>C (p.Glu1225Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003350508] |
Chr22:36294256 [GRCh38]
Chr22:36690302 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4368C>G (p.Ile1456Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003374494] |
Chr22:36289274 [GRCh38]
Chr22:36685320 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5046G>A (p.Met1682Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003375064]|not provided [RCV003679197] |
Chr22:36286733 [GRCh38]
Chr22:36682779 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.4415G>A (p.Arg1472Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003367118] |
Chr22:36289227 [GRCh38]
Chr22:36685273 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4932+12C>T |
single nucleotide variant |
not provided [RCV003872941] |
Chr22:36288240 [GRCh38]
Chr22:36684286 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NC_000022.10:g.(?_36677325)_(36712715_36714251)dup |
duplication |
not specified [RCV003489642] |
Chr22:36677325..36712715 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4759C>T (p.Leu1587=) |
single nucleotide variant |
not provided [RCV003571194] |
Chr22:36288738 [GRCh38]
Chr22:36684784 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2221G>A (p.Val741Met) |
single nucleotide variant |
MYH9-related disorder [RCV004733656]|not provided [RCV003874218] |
Chr22:36305041 [GRCh38]
Chr22:36701087 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4682A>G (p.Asn1561Ser) |
single nucleotide variant |
not provided [RCV003875650] |
Chr22:36288815 [GRCh38]
Chr22:36684861 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2220C>T (p.Cys740=) |
single nucleotide variant |
not provided [RCV003826888] |
Chr22:36305042 [GRCh38]
Chr22:36701088 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3046A>G (p.Lys1016Glu) |
single nucleotide variant |
not provided [RCV003570174] |
Chr22:36298973 [GRCh38]
Chr22:36695019 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3262G>A (p.Ala1088Thr) |
single nucleotide variant |
not provided [RCV003488094] |
Chr22:36296853 [GRCh38]
Chr22:36692899 [GRCh37]
Chr22:22q12.3 |
conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.4136G>A (p.Cys1379Tyr) |
single nucleotide variant |
not provided [RCV003457354] |
Chr22:36292194 [GRCh38]
Chr22:36688240 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.849G>A (p.Gly283=) |
single nucleotide variant |
not provided [RCV003570138] |
Chr22:36320817 [GRCh38]
Chr22:36716862 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3045T>A (p.Ser1015=) |
single nucleotide variant |
not provided [RCV003570339] |
Chr22:36298974 [GRCh38]
Chr22:36695020 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.868+13C>G |
single nucleotide variant |
not provided [RCV003543716] |
Chr22:36320785 [GRCh38]
Chr22:36716830 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1844T>C (p.Val615Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004369405]|not provided [RCV003569119] |
Chr22:36306607 [GRCh38]
Chr22:36702653 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4009G>C (p.Glu1337Gln) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003494502] |
Chr22:36293415 [GRCh38]
Chr22:36689461 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.490+19del |
deletion |
not provided [RCV003825140] |
Chr22:36341351 [GRCh38]
Chr22:36737396 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4302del (p.Ser1435fs) |
deletion |
MYH9-related disorder [RCV004529278] |
Chr22:36292028 [GRCh38]
Chr22:36688074 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.1815C>G (p.Asp605Glu) |
single nucleotide variant |
MYH9-related disorder [RCV004531624]|not provided [RCV004765828] |
Chr22:36309310 [GRCh38]
Chr22:36705355 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3244GAG[2] (p.Glu1084del) |
microsatellite |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003388257] |
Chr22:36296863..36296865 [GRCh38]
Chr22:36692909..36692911 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.1873G>T (p.Ala625Ser) |
single nucleotide variant |
MYH9-related disorder [RCV004536752] |
Chr22:36306578 [GRCh38]
Chr22:36702624 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1537G>A (p.Asp513Asn) |
single nucleotide variant |
not specified [RCV003479877] |
Chr22:36314162 [GRCh38]
Chr22:36710207 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.575C>T (p.Ala192Val) |
single nucleotide variant |
MYH9-related disorder [RCV004531741] |
Chr22:36326605 [GRCh38]
Chr22:36722650 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3681G>T (p.Gly1227=) |
single nucleotide variant |
not provided [RCV003437550] |
Chr22:36294248 [GRCh38]
Chr22:36690294 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003484542] |
Chr22:36318250 [GRCh38]
Chr22:36714295 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.5309G>A (p.Arg1770His) |
single nucleotide variant |
not provided [RCV003480390] |
Chr22:36285295 [GRCh38]
Chr22:36681341 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5745C>G (p.Ser1915Arg) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003447893] |
Chr22:36284113 [GRCh38]
Chr22:36680159 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4390C>T (p.Arg1464Cys) |
single nucleotide variant |
not provided [RCV003880368] |
Chr22:36289252 [GRCh38]
Chr22:36685298 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4913A>G (p.Lys1638Arg) |
single nucleotide variant |
not provided [RCV003433198] |
Chr22:36288271 [GRCh38]
Chr22:36684317 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.21T>C (p.Asp7=) |
single nucleotide variant |
not provided [RCV003437551] |
Chr22:36349216 [GRCh38]
Chr22:36745261 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5061+5G>A |
single nucleotide variant |
MYH9-related disorder [RCV004528558] |
Chr22:36286713 [GRCh38]
Chr22:36682759 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.166G>A (p.Val56Met) |
single nucleotide variant |
MYH9-related disorder [RCV004529670]|not provided [RCV003778179] |
Chr22:36349071 [GRCh38]
Chr22:36745116 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5465A>G (p.Gln1822Arg) |
single nucleotide variant |
MYH9-related disorder [RCV004536695] |
Chr22:36285139 [GRCh38]
Chr22:36681185 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5592+6G>A |
single nucleotide variant |
not provided [RCV003433196] |
Chr22:36284397 [GRCh38]
Chr22:36680443 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2398_2400delinsTTT (p.Ala800Phe) |
indel |
MYH9-related disorder [RCV004527829]|not provided [RCV003778220] |
Chr22:36302667..36302669 [GRCh38]
Chr22:36698713..36698715 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5796_5797dup (p.Arg1933fs) |
duplication |
MYH9-related disorder [RCV004527834] |
Chr22:36282753..36282754 [GRCh38]
Chr22:36678799..36678800 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.5483+4C>A |
single nucleotide variant |
not provided [RCV003437549] |
Chr22:36285117 [GRCh38]
Chr22:36681163 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3193G>C (p.Ala1065Pro) |
single nucleotide variant |
MYH9-related disorder [RCV004531589] |
Chr22:36296922 [GRCh38]
Chr22:36692968 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4187G>T (p.Gly1396Val) |
single nucleotide variant |
MYH9-related disorder [RCV004528654] |
Chr22:36292143 [GRCh38]
Chr22:36688189 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.167T>A (p.Val56Glu) |
single nucleotide variant |
MYH9-related disorder [RCV004528684] |
Chr22:36349070 [GRCh38]
Chr22:36745115 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4711C>T (p.Arg1571Trp) |
single nucleotide variant |
MYH9-related disorder [RCV004528591] |
Chr22:36288786 [GRCh38]
Chr22:36684832 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4354GAG[1] (p.Glu1453del) |
microsatellite |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003447758]|not provided [RCV003669422] |
Chr22:36289283..36289285 [GRCh38]
Chr22:36685329..36685331 [GRCh37]
Chr22:22q12.3 |
likely pathogenic|uncertain significance |
| NM_002473.6(MYH9):c.914A>G (p.Asn305Ser) |
single nucleotide variant |
MYH9-related disorder [RCV004536677] |
Chr22:36320318 [GRCh38]
Chr22:36716363 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5710A>G (p.Thr1904Ala) |
single nucleotide variant |
not provided [RCV003437548] |
Chr22:36284148 [GRCh38]
Chr22:36680194 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3643C>T (p.Leu1215Phe) |
single nucleotide variant |
MYH9-related disorder [RCV004539009] |
Chr22:36294286 [GRCh38]
Chr22:36690332 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5089C>T (p.Arg1697Cys) |
single nucleotide variant |
MYH9-related disorder [RCV004538986] |
Chr22:36285926 [GRCh38]
Chr22:36681972 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5767C>T (p.Arg1923Cys) |
single nucleotide variant |
MYH9-related disorder [RCV004527844] |
Chr22:36282784 [GRCh38]
Chr22:36678830 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2024A>G (p.Asn675Ser) |
single nucleotide variant |
MYH9-related disorder [RCV004527860] |
Chr22:36306427 [GRCh38]
Chr22:36702473 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5292C>T (p.Thr1764=) |
single nucleotide variant |
not provided [RCV003433197] |
Chr22:36285312 [GRCh38]
Chr22:36681358 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4644G>A (p.Leu1548=) |
single nucleotide variant |
not provided [RCV003433199] |
Chr22:36288853 [GRCh38]
Chr22:36684899 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4953G>T (p.Met1651Ile) |
single nucleotide variant |
not provided [RCV003578116] |
Chr22:36286826 [GRCh38]
Chr22:36682872 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3837+11C>T |
single nucleotide variant |
not provided [RCV003714592] |
Chr22:36294081 [GRCh38]
Chr22:36690127 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.139A>G (p.Lys47Glu) |
single nucleotide variant |
not provided [RCV003576184] |
Chr22:36349098 [GRCh38]
Chr22:36745143 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3755C>T (p.Ala1252Val) |
single nucleotide variant |
not provided [RCV003831588] |
Chr22:36294174 [GRCh38]
Chr22:36690220 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.3117G>C (p.Glu1039Asp) |
single nucleotide variant |
not provided [RCV003690974] |
Chr22:36296998 [GRCh38]
Chr22:36693044 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4704G>C (p.Gln1568His) |
single nucleotide variant |
not provided [RCV003572730] |
Chr22:36288793 [GRCh38]
Chr22:36684839 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3273-9C>T |
single nucleotide variant |
not provided [RCV003691088] |
Chr22:36295726 [GRCh38]
Chr22:36691772 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3505G>T (p.Val1169Leu) |
single nucleotide variant |
not provided [RCV003691115] |
Chr22:36295057 [GRCh38]
Chr22:36691103 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3838-4G>A |
single nucleotide variant |
not provided [RCV003826382] |
Chr22:36293867 [GRCh38]
Chr22:36689913 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.73G>A (p.Asp25Asn) |
single nucleotide variant |
not provided [RCV003715090] |
Chr22:36349164 [GRCh38]
Chr22:36745209 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4558-5C>A |
single nucleotide variant |
not provided [RCV003573047] |
Chr22:36288944 [GRCh38]
Chr22:36684990 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4096-15C>T |
single nucleotide variant |
not provided [RCV003827561] |
Chr22:36292249 [GRCh38]
Chr22:36688295 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4600G>A (p.Val1534Met) |
single nucleotide variant |
not provided [RCV003740149] |
Chr22:36288897 [GRCh38]
Chr22:36684943 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1651G>T (p.Gly551Cys) |
single nucleotide variant |
not provided [RCV003690469] |
Chr22:36312126 [GRCh38]
Chr22:36708171 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5428A>G (p.Thr1810Ala) |
single nucleotide variant |
not provided [RCV003827901] |
Chr22:36285176 [GRCh38]
Chr22:36681222 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.84C>T (p.Ala28=) |
single nucleotide variant |
not provided [RCV003572190] |
Chr22:36349153 [GRCh38]
Chr22:36745198 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3708G>A (p.Leu1236=) |
single nucleotide variant |
not provided [RCV003830363] |
Chr22:36294221 [GRCh38]
Chr22:36690267 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.714C>T (p.Phe238=) |
single nucleotide variant |
not provided [RCV003876133] |
Chr22:36321813 [GRCh38]
Chr22:36717858 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2391-15T>C |
single nucleotide variant |
not provided [RCV003830407] |
Chr22:36302691 [GRCh38]
Chr22:36698737 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4932+20A>G |
single nucleotide variant |
not provided [RCV003660381] |
Chr22:36288232 [GRCh38]
Chr22:36684278 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3279A>G (p.Glu1093=) |
single nucleotide variant |
not provided [RCV003830503] |
Chr22:36295711 [GRCh38]
Chr22:36691757 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4248G>A (p.Thr1416=) |
single nucleotide variant |
not provided [RCV003829330] |
Chr22:36292082 [GRCh38]
Chr22:36688128 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3942+5G>C |
single nucleotide variant |
not provided [RCV003876285] |
Chr22:36293754 [GRCh38]
Chr22:36689800 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.518+15G>T |
single nucleotide variant |
not provided [RCV003825964] |
Chr22:36327446 [GRCh38]
Chr22:36723491 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4344+11G>A |
single nucleotide variant |
not provided [RCV003880354] |
Chr22:36291975 [GRCh38]
Chr22:36688021 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1866C>T (p.Asp622=) |
single nucleotide variant |
not provided [RCV003576541] |
Chr22:36306585 [GRCh38]
Chr22:36702631 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2055G>A (p.Pro685=) |
single nucleotide variant |
not provided [RCV003881304] |
Chr22:36306034 [GRCh38]
Chr22:36702080 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2567A>C (p.Lys856Thr) |
single nucleotide variant |
not provided [RCV003828757] |
Chr22:36301598 [GRCh38]
Chr22:36697644 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3404G>A (p.Arg1135Gln) |
single nucleotide variant |
not provided [RCV003662130] |
Chr22:36295586 [GRCh38]
Chr22:36691632 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.790G>A (p.Ala264Thr) |
single nucleotide variant |
not provided [RCV003879796] |
Chr22:36320876 [GRCh38]
Chr22:36716921 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2626T>C (p.Ser876Pro) |
single nucleotide variant |
not provided [RCV003578126] |
Chr22:36301539 [GRCh38]
Chr22:36697585 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3754G>A (p.Ala1252Thr) |
single nucleotide variant |
not provided [RCV003830757] |
Chr22:36294175 [GRCh38]
Chr22:36690221 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4127G>C (p.Ser1376Thr) |
single nucleotide variant |
not provided [RCV003661815] |
Chr22:36292203 [GRCh38]
Chr22:36688249 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3008A>C (p.Glu1003Ala) |
single nucleotide variant |
not provided [RCV003692168] |
Chr22:36299011 [GRCh38]
Chr22:36695057 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.729T>G (p.Phe243Leu) |
single nucleotide variant |
not provided [RCV003571960] |
Chr22:36321798 [GRCh38]
Chr22:36717843 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5484-11C>G |
single nucleotide variant |
not provided [RCV003686425] |
Chr22:36284522 [GRCh38]
Chr22:36680568 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1843+13C>T |
single nucleotide variant |
not provided [RCV003695851] |
Chr22:36309269 [GRCh38]
Chr22:36705314 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.678C>T (p.Thr226=) |
single nucleotide variant |
MYH9-related disorder [RCV004536840]|not provided [RCV003546156] |
Chr22:36322456 [GRCh38]
Chr22:36718501 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5245A>G (p.Asn1749Asp) |
single nucleotide variant |
not provided [RCV003547212] |
Chr22:36285687 [GRCh38]
Chr22:36681733 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2838+12C>A |
single nucleotide variant |
not provided [RCV003831083] |
Chr22:36300839 [GRCh38]
Chr22:36696885 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1864G>A (p.Asp622Asn) |
single nucleotide variant |
not provided [RCV003574587] |
Chr22:36306587 [GRCh38]
Chr22:36702633 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2499+9T>G |
single nucleotide variant |
not provided [RCV003578133] |
Chr22:36302559 [GRCh38]
Chr22:36698605 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3886T>G (p.Ser1296Ala) |
single nucleotide variant |
not provided [RCV003576186] |
Chr22:36293815 [GRCh38]
Chr22:36689861 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3837+13C>T |
single nucleotide variant |
not provided [RCV003877685] |
Chr22:36294079 [GRCh38]
Chr22:36690125 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3957G>A (p.Glu1319=) |
single nucleotide variant |
not provided [RCV003877827] |
Chr22:36293467 [GRCh38]
Chr22:36689513 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3408C>T (p.Asp1136=) |
single nucleotide variant |
not provided [RCV003882410] |
Chr22:36295582 [GRCh38]
Chr22:36691628 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.887C>T (p.Pro296Leu) |
single nucleotide variant |
not provided [RCV003878318] |
Chr22:36320345 [GRCh38]
Chr22:36716390 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3837+12G>A |
single nucleotide variant |
not provided [RCV003827982] |
Chr22:36294080 [GRCh38]
Chr22:36690126 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3068A>G (p.Asn1023Ser) |
single nucleotide variant |
not provided [RCV003877763] |
Chr22:36298951 [GRCh38]
Chr22:36694997 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4269C>T (p.Asp1423=) |
single nucleotide variant |
not provided [RCV003545764]|not specified [RCV004701091] |
Chr22:36292061 [GRCh38]
Chr22:36688107 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.815G>A (p.Arg272Gln) |
single nucleotide variant |
not provided [RCV003714645] |
Chr22:36320851 [GRCh38]
Chr22:36716896 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2037+18G>C |
single nucleotide variant |
not provided [RCV003687353] |
Chr22:36306396 [GRCh38]
Chr22:36702442 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3630+5G>A |
single nucleotide variant |
not provided [RCV003880369] |
Chr22:36294927 [GRCh38]
Chr22:36690973 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3679G>T (p.Gly1227Trp) |
single nucleotide variant |
not provided [RCV003662870] |
Chr22:36294250 [GRCh38]
Chr22:36690296 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4745A>G (p.Glu1582Gly) |
single nucleotide variant |
not specified [RCV003489751] |
Chr22:36288752 [GRCh38]
Chr22:36684798 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3485+10G>C |
single nucleotide variant |
not provided [RCV003713807] |
Chr22:36295495 [GRCh38]
Chr22:36691541 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2868G>A (p.Glu956=) |
single nucleotide variant |
not provided [RCV003663166] |
Chr22:36300235 [GRCh38]
Chr22:36696281 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.585G>T (p.Ala195=) |
single nucleotide variant |
not provided [RCV003547990] |
Chr22:36326595 [GRCh38]
Chr22:36722640 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3079G>A (p.Ala1027Thr) |
single nucleotide variant |
not provided [RCV003688683] |
Chr22:36298940 [GRCh38]
Chr22:36694986 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3628C>T (p.Arg1210Trp) |
single nucleotide variant |
not provided [RCV003557771] |
Chr22:36294934 [GRCh38]
Chr22:36690980 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5644G>A (p.Ala1882Thr) |
single nucleotide variant |
not provided [RCV003697731] |
Chr22:36284214 [GRCh38]
Chr22:36680260 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3039G>A (p.Glu1013=) |
single nucleotide variant |
not provided [RCV003833747] |
Chr22:36298980 [GRCh38]
Chr22:36695026 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3646G>A (p.Glu1216Lys) |
single nucleotide variant |
not provided [RCV003699658] |
Chr22:36294283 [GRCh38]
Chr22:36690329 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5061+18G>A |
single nucleotide variant |
not provided [RCV003850429] |
Chr22:36286700 [GRCh38]
Chr22:36682746 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3785A>G (p.Asn1262Ser) |
single nucleotide variant |
not provided [RCV003851495] |
Chr22:36294144 [GRCh38]
Chr22:36690190 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1136G>A (p.Gly379Asp) |
single nucleotide variant |
not provided [RCV003659110] |
Chr22:36318298 [GRCh38]
Chr22:36714343 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1160G>A (p.Arg387Lys) |
single nucleotide variant |
not provided [RCV003580881] |
Chr22:36318274 [GRCh38]
Chr22:36714319 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1228-18C>T |
single nucleotide variant |
not provided [RCV003850729] |
Chr22:36316687 [GRCh38]
Chr22:36712732 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.519-11T>G |
single nucleotide variant |
not provided [RCV003811730] |
Chr22:36326672 [GRCh38]
Chr22:36722717 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2838+11G>A |
single nucleotide variant |
not provided [RCV003836517] |
Chr22:36300840 [GRCh38]
Chr22:36696886 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3149G>A (p.Arg1050His) |
single nucleotide variant |
not provided [RCV003664384] |
Chr22:36296966 [GRCh38]
Chr22:36693012 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2038-19C>T |
single nucleotide variant |
not provided [RCV003665290] |
Chr22:36306070 [GRCh38]
Chr22:36702116 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5062-19C>T |
single nucleotide variant |
not provided [RCV003856593] |
Chr22:36285972 [GRCh38]
Chr22:36682018 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1228-13G>T |
single nucleotide variant |
not provided [RCV003840386] |
Chr22:36316682 [GRCh38]
Chr22:36712727 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4224C>T (p.Tyr1408=) |
single nucleotide variant |
not provided [RCV003726092] |
Chr22:36292106 [GRCh38]
Chr22:36688152 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5722G>A (p.Asp1908Asn) |
single nucleotide variant |
not provided [RCV003726699] |
Chr22:36284136 [GRCh38]
Chr22:36680182 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2302C>T (p.Leu768=) |
single nucleotide variant |
not provided [RCV003856791] |
Chr22:36304083 [GRCh38]
Chr22:36700129 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3907T>C (p.Phe1303Leu) |
single nucleotide variant |
not provided [RCV003580851] |
Chr22:36293794 [GRCh38]
Chr22:36689840 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2977-19C>T |
single nucleotide variant |
not provided [RCV003834062] |
Chr22:36299061 [GRCh38]
Chr22:36695107 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4708G>A (p.Glu1570Lys) |
single nucleotide variant |
not provided [RCV003665709] |
Chr22:36288789 [GRCh38]
Chr22:36684835 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1013-14G>T |
single nucleotide variant |
not provided [RCV003673280] |
Chr22:36319649 [GRCh38]
Chr22:36715694 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3190A>T (p.Ile1064Phe) |
single nucleotide variant |
not provided [RCV003839521] |
Chr22:36296925 [GRCh38]
Chr22:36692971 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4864C>T (p.Leu1622=) |
single nucleotide variant |
not provided [RCV003856828] |
Chr22:36288320 [GRCh38]
Chr22:36684366 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.333+20C>A |
single nucleotide variant |
not provided [RCV003814913] |
Chr22:36348884 [GRCh38]
Chr22:36744929 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5412G>A (p.Lys1804=) |
single nucleotide variant |
not provided [RCV003839196] |
Chr22:36285192 [GRCh38]
Chr22:36681238 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.375G>A (p.Lys125=) |
single nucleotide variant |
MYH9-related disorder [RCV004539162]|not provided [RCV003837238] |
Chr22:36341485 [GRCh38]
Chr22:36737530 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2972C>G (p.Ala991Gly) |
single nucleotide variant |
not provided [RCV003668817] |
Chr22:36300131 [GRCh38]
Chr22:36696177 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3838-16T>A |
single nucleotide variant |
not provided [RCV003670158] |
Chr22:36293879 [GRCh38]
Chr22:36689925 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4740C>T (p.Ser1580=) |
single nucleotide variant |
not provided [RCV003559096] |
Chr22:36288757 [GRCh38]
Chr22:36684803 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4344+12T>C |
single nucleotide variant |
not provided [RCV003855068] |
Chr22:36291974 [GRCh38]
Chr22:36688020 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4400C>T (p.Ala1467Val) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003994670] |
Chr22:36289242 [GRCh38]
Chr22:36685288 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3904G>T (p.Asp1302Tyr) |
single nucleotide variant |
not provided [RCV003673355] |
Chr22:36293797 [GRCh38]
Chr22:36689843 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2976+19G>A |
single nucleotide variant |
not provided [RCV003833568] |
Chr22:36300108 [GRCh38]
Chr22:36696154 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4726C>T (p.Arg1576Trp) |
single nucleotide variant |
not provided [RCV003839723] |
Chr22:36288771 [GRCh38]
Chr22:36684817 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2159+13C>T |
single nucleotide variant |
not provided [RCV003855928] |
Chr22:36305917 [GRCh38]
Chr22:36701963 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.613-19G>A |
single nucleotide variant |
not provided [RCV003817304] |
Chr22:36322540 [GRCh38]
Chr22:36718585 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3624G>A (p.Thr1208=) |
single nucleotide variant |
not provided [RCV003817260] |
Chr22:36294938 [GRCh38]
Chr22:36690984 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2814G>C (p.Lys938Asn) |
single nucleotide variant |
not provided [RCV003672139] |
Chr22:36300875 [GRCh38]
Chr22:36696921 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4357G>A (p.Glu1453Lys) |
single nucleotide variant |
not provided [RCV003716912] |
Chr22:36289285 [GRCh38]
Chr22:36685331 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2441G>A (p.Arg814Gln) |
single nucleotide variant |
not provided [RCV003838069] |
Chr22:36302626 [GRCh38]
Chr22:36698672 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4698G>A (p.Lys1566=) |
single nucleotide variant |
not provided [RCV003855067] |
Chr22:36288799 [GRCh38]
Chr22:36684845 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.590C>T (p.Ser197Leu) |
single nucleotide variant |
not provided [RCV003816340] |
Chr22:36326590 [GRCh38]
Chr22:36722635 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3289G>T (p.Ala1097Ser) |
single nucleotide variant |
not provided [RCV003666790] |
Chr22:36295701 [GRCh38]
Chr22:36691747 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2347A>G (p.Ile783Val) |
single nucleotide variant |
not provided [RCV003725504] |
Chr22:36304038 [GRCh38]
Chr22:36700084 [GRCh37]
Chr22:22q12.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.4933-11C>A |
single nucleotide variant |
not provided [RCV003833471] |
Chr22:36286857 [GRCh38]
Chr22:36682903 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2606C>T (p.Thr869Met) |
single nucleotide variant |
not provided [RCV003724530] |
Chr22:36301559 [GRCh38]
Chr22:36697605 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2819A>T (p.Lys940Met) |
single nucleotide variant |
not provided [RCV003672246] |
Chr22:36300870 [GRCh38]
Chr22:36696916 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5275-20C>T |
single nucleotide variant |
not provided [RCV003815152] |
Chr22:36285349 [GRCh38]
Chr22:36681395 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4425G>C (p.Glu1475Asp) |
single nucleotide variant |
not provided [RCV003671238] |
Chr22:36289217 [GRCh38]
Chr22:36685263 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2230-13TCC[3] |
microsatellite |
not provided [RCV003667998] |
Chr22:36304162..36304163 [GRCh38]
Chr22:36700208..36700209 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4218C>A (p.Ala1406=) |
single nucleotide variant |
not provided [RCV003836535] |
Chr22:36292112 [GRCh38]
Chr22:36688158 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4274_4294dup (p.His1431_Gln1432insLeuLeuValAspLeuAspHis) |
duplication |
not provided [RCV003701617] |
Chr22:36292035..36292036 [GRCh38]
Chr22:36688081..36688082 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5193C>T (p.Ile1731=) |
single nucleotide variant |
not provided [RCV003724618] |
Chr22:36285739 [GRCh38]
Chr22:36681785 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.1746C>T (p.Asp582=) |
single nucleotide variant |
not provided [RCV003724843] |
Chr22:36309379 [GRCh38]
Chr22:36705424 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2421C>T (p.Thr807=) |
single nucleotide variant |
not provided [RCV003724150] |
Chr22:36302646 [GRCh38]
Chr22:36698692 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4884G>A (p.Ser1628=) |
single nucleotide variant |
not provided [RCV003724893] |
Chr22:36288300 [GRCh38]
Chr22:36684346 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3700A>C (p.Lys1234Gln) |
single nucleotide variant |
not provided [RCV003666757] |
Chr22:36294229 [GRCh38]
Chr22:36690275 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5748C>G (p.Ser1916=) |
single nucleotide variant |
MYH9-related disorder [RCV004539160]|not provided [RCV003834111] |
Chr22:36284110 [GRCh38]
Chr22:36680156 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2617A>G (p.Thr873Ala) |
single nucleotide variant |
not provided [RCV003725146] |
Chr22:36301548 [GRCh38]
Chr22:36697594 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4345-4C>T |
single nucleotide variant |
not provided [RCV003701307] |
Chr22:36289301 [GRCh38]
Chr22:36685347 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.518+14C>T |
single nucleotide variant |
not provided [RCV003836413] |
Chr22:36327447 [GRCh38]
Chr22:36723492 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3672C>T (p.Asn1224=) |
single nucleotide variant |
not provided [RCV003731168] |
Chr22:36294257 [GRCh38]
Chr22:36690303 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.841C>T (p.Leu281=) |
single nucleotide variant |
not provided [RCV003567633] |
Chr22:36320825 [GRCh38]
Chr22:36716870 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1916G>A (p.Arg639Gln) |
single nucleotide variant |
not provided [RCV003711141] |
Chr22:36306535 [GRCh38]
Chr22:36702581 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.600C>T (p.Ser200=) |
single nucleotide variant |
not provided [RCV003670618] |
Chr22:36326580 [GRCh38]
Chr22:36722625 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4219G>A (p.Ala1407Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004369140]|not provided [RCV003554299] |
Chr22:36292111 [GRCh38]
Chr22:36688157 [GRCh37]
Chr22:22q12.3 |
benign|uncertain significance |
| NM_002473.6(MYH9):c.4242C>G (p.Thr1414=) |
single nucleotide variant |
not provided [RCV003845110] |
Chr22:36292088 [GRCh38]
Chr22:36688134 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4787C>G (p.Ala1596Gly) |
single nucleotide variant |
not provided [RCV003857338] |
Chr22:36288397 [GRCh38]
Chr22:36684443 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1991C>T (p.Thr664Met) |
single nucleotide variant |
not provided [RCV003821387] |
Chr22:36306460 [GRCh38]
Chr22:36702506 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3943-7C>T |
single nucleotide variant |
not provided [RCV003550728] |
Chr22:36293488 [GRCh38]
Chr22:36689534 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4345-16C>T |
single nucleotide variant |
not provided [RCV003824220] |
Chr22:36289313 [GRCh38]
Chr22:36685359 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2658G>A (p.Gln886=) |
single nucleotide variant |
not provided [RCV003552797] |
Chr22:36301031 [GRCh38]
Chr22:36697077 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3981G>A (p.Leu1327=) |
single nucleotide variant |
not provided [RCV003730049] |
Chr22:36293443 [GRCh38]
Chr22:36689489 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2341G>A (p.Asp781Asn) |
single nucleotide variant |
not provided [RCV003819340] |
Chr22:36304044 [GRCh38]
Chr22:36700090 [GRCh37]
Chr22:22q12.3 |
benign|conflicting interpretations of pathogenicity |
| NM_002473.6(MYH9):c.3913G>A (p.Ala1305Thr) |
single nucleotide variant |
not provided [RCV003562684] |
Chr22:36293788 [GRCh38]
Chr22:36689834 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2038-3C>T |
single nucleotide variant |
not provided [RCV003845806] |
Chr22:36306054 [GRCh38]
Chr22:36702100 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.615C>G (p.Gly205=) |
single nucleotide variant |
not provided [RCV003568103] |
Chr22:36322519 [GRCh38]
Chr22:36718564 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1746C>G (p.Asp582Glu) |
single nucleotide variant |
not provided [RCV003553005] |
Chr22:36309379 [GRCh38]
Chr22:36705424 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3128G>T (p.Arg1043Leu) |
single nucleotide variant |
not provided [RCV003845875] |
Chr22:36296987 [GRCh38]
Chr22:36693033 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1843+7C>T |
single nucleotide variant |
not provided [RCV003705525] |
Chr22:36309275 [GRCh38]
Chr22:36705320 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1779T>C (p.Asn593=) |
single nucleotide variant |
not provided [RCV003729201] |
Chr22:36309346 [GRCh38]
Chr22:36705391 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.898T>C (p.Tyr300His) |
single nucleotide variant |
not provided [RCV003564216] |
Chr22:36320334 [GRCh38]
Chr22:36716379 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3968A>G (p.Gln1323Arg) |
single nucleotide variant |
not provided [RCV003821235] |
Chr22:36293456 [GRCh38]
Chr22:36689502 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4185G>A (p.Glu1395=) |
single nucleotide variant |
not provided [RCV003565967] |
Chr22:36292145 [GRCh38]
Chr22:36688191 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5436C>T (p.Leu1812=) |
single nucleotide variant |
not provided [RCV003863145] |
Chr22:36285168 [GRCh38]
Chr22:36681214 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5374G>A (p.Val1792Ile) |
single nucleotide variant |
not provided [RCV003551299] |
Chr22:36285230 [GRCh38]
Chr22:36681276 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.906C>G (p.Phe302Leu) |
single nucleotide variant |
not provided [RCV003553580] |
Chr22:36320326 [GRCh38]
Chr22:36716371 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3429T>A (p.Ala1143=) |
single nucleotide variant |
MYH9-related disorder [RCV004542240]|not provided [RCV003734291] |
Chr22:36295561 [GRCh38]
Chr22:36691607 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5595C>T (p.Ala1865=) |
single nucleotide variant |
MYH9-related disorder [RCV004539174]|not provided [RCV003866090] |
Chr22:36284263 [GRCh38]
Chr22:36680309 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.121T>A (p.Phe41Ile) |
single nucleotide variant |
not provided [RCV003727193] |
Chr22:36349116 [GRCh38]
Chr22:36745161 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4616C>T (p.Thr1539Met) |
single nucleotide variant |
not provided [RCV003821632] |
Chr22:36288881 [GRCh38]
Chr22:36684927 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2391-8C>A |
single nucleotide variant |
not provided [RCV003710952] |
Chr22:36302684 [GRCh38]
Chr22:36698730 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2289C>G (p.Phe763Leu) |
single nucleotide variant |
not provided [RCV003568641] |
Chr22:36304096 [GRCh38]
Chr22:36700142 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3940C>G (p.Gln1314Glu) |
single nucleotide variant |
not provided [RCV003843206] |
Chr22:36293761 [GRCh38]
Chr22:36689807 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.491-18A>T |
single nucleotide variant |
not provided [RCV003872465] |
Chr22:36327506 [GRCh38]
Chr22:36723551 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2679C>T (p.Thr893=) |
single nucleotide variant |
not provided [RCV003824298] |
Chr22:36301010 [GRCh38]
Chr22:36697056 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4933-14_4933-13delinsAA |
indel |
not provided [RCV003867311] |
Chr22:36286859..36286860 [GRCh38]
Chr22:36682905..36682906 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1108+19C>A |
single nucleotide variant |
not provided [RCV003684070] |
Chr22:36319521 [GRCh38]
Chr22:36715566 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5596G>C (p.Asp1866His) |
single nucleotide variant |
not provided [RCV003720450] |
Chr22:36284262 [GRCh38]
Chr22:36680308 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4771-15T>C |
single nucleotide variant |
not provided [RCV003867349] |
Chr22:36288428 [GRCh38]
Chr22:36684474 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.699C>T (p.Ser233=) |
single nucleotide variant |
not provided [RCV003868892] |
Chr22:36322435 [GRCh38]
Chr22:36718480 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+8G>A |
single nucleotide variant |
not provided [RCV003720509] |
Chr22:36284085 [GRCh38]
Chr22:36680131 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5058G>A (p.Gln1686=) |
single nucleotide variant |
not provided [RCV003819487] |
Chr22:36286721 [GRCh38]
Chr22:36682767 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.758A>G (p.Asn253Ser) |
single nucleotide variant |
not provided [RCV003542788] |
Chr22:36321769 [GRCh38]
Chr22:36717814 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4078G>A (p.Ala1360Thr) |
single nucleotide variant |
not provided [RCV003550555] |
Chr22:36293346 [GRCh38]
Chr22:36689392 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.333C>T (p.Tyr111=) |
single nucleotide variant |
not provided [RCV003737796] |
Chr22:36348904 [GRCh38]
Chr22:36744949 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2390+9C>T |
single nucleotide variant |
not provided [RCV003869321] |
Chr22:36303986 [GRCh38]
Chr22:36700032 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1839G>A (p.Lys613=) |
single nucleotide variant |
not provided [RCV003721040] |
Chr22:36309286 [GRCh38]
Chr22:36705331 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5592+9G>A |
single nucleotide variant |
not provided [RCV003867865] |
Chr22:36284394 [GRCh38]
Chr22:36680440 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4688A>G (p.Gln1563Arg) |
single nucleotide variant |
not provided [RCV003563844] |
Chr22:36288809 [GRCh38]
Chr22:36684855 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4497C>T (p.Asn1499=) |
single nucleotide variant |
not provided [RCV003869807] |
Chr22:36289145 [GRCh38]
Chr22:36685191 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.173T>G (p.Leu58Arg) |
single nucleotide variant |
not provided [RCV003550939] |
Chr22:36349064 [GRCh38]
Chr22:36745109 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1072C>T (p.Arg358Trp) |
single nucleotide variant |
not provided [RCV003823420] |
Chr22:36319576 [GRCh38]
Chr22:36715621 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile) |
single nucleotide variant |
MYH9-related disorder [RCV004542312]|not provided [RCV003871751] |
Chr22:36284147 [GRCh38]
Chr22:36680193 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3100+9G>T |
single nucleotide variant |
not provided [RCV003705553] |
Chr22:36298910 [GRCh38]
Chr22:36694956 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.139_141del (p.Lys47del) |
deletion |
not provided [RCV003823541] |
Chr22:36349096..36349098 [GRCh38]
Chr22:36745141..36745143 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.723C>T (p.Ile241=) |
single nucleotide variant |
not provided [RCV003556689] |
Chr22:36321804 [GRCh38]
Chr22:36717849 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.231G>A (p.Pro77=) |
single nucleotide variant |
not provided [RCV003562918] |
Chr22:36349006 [GRCh38]
Chr22:36745051 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2391-8C>T |
single nucleotide variant |
not provided [RCV003868615] |
Chr22:36302684 [GRCh38]
Chr22:36698730 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5498C>T (p.Ala1833Val) |
single nucleotide variant |
not provided [RCV003868037] |
Chr22:36284497 [GRCh38]
Chr22:36680543 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3787G>A (p.Glu1263Lys) |
single nucleotide variant |
not provided [RCV003820392] |
Chr22:36294142 [GRCh38]
Chr22:36690188 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.4512G>A (p.Thr1504=) |
single nucleotide variant |
not provided [RCV003860563] |
Chr22:36289130 [GRCh38]
Chr22:36685176 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4775G>A (p.Arg1592Gln) |
single nucleotide variant |
not provided [RCV003867973] |
Chr22:36288409 [GRCh38]
Chr22:36684455 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4933-6C>T |
single nucleotide variant |
MYH9-related disorder [RCV004733653]|not provided [RCV003821941] |
Chr22:36286852 [GRCh38]
Chr22:36682898 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.3631-7C>G |
single nucleotide variant |
not provided [RCV003679903] |
Chr22:36294305 [GRCh38]
Chr22:36690351 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3215C>A (p.Ala1072Glu) |
single nucleotide variant |
not provided [RCV003711151] |
Chr22:36296900 [GRCh38]
Chr22:36692946 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2462A>G (p.Lys821Arg) |
single nucleotide variant |
not provided [RCV003685695] |
Chr22:36302605 [GRCh38]
Chr22:36698651 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5765+4A>G |
single nucleotide variant |
MYH9-related disorder [RCV004536839]|not provided [RCV003553042] |
Chr22:36284089 [GRCh38]
Chr22:36680135 [GRCh37]
Chr22:22q12.3 |
likely benign|uncertain significance |
| NM_002473.6(MYH9):c.1093A>G (p.Met365Val) |
single nucleotide variant |
not provided [RCV003684747] |
Chr22:36319555 [GRCh38]
Chr22:36715600 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4199G>A (p.Arg1400Gln) |
single nucleotide variant |
not provided [RCV003685835] |
Chr22:36292131 [GRCh38]
Chr22:36688177 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3122A>T (p.Lys1041Met) |
single nucleotide variant |
not provided [RCV003819105] |
Chr22:36296993 [GRCh38]
Chr22:36693039 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1617C>G (p.Asp539Glu) |
single nucleotide variant |
not provided [RCV003678150] |
Chr22:36312160 [GRCh38]
Chr22:36708205 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2898G>T (p.Lys966Asn) |
single nucleotide variant |
not provided [RCV003867099] |
Chr22:36300205 [GRCh38]
Chr22:36696251 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4236G>A (p.Glu1412=) |
single nucleotide variant |
MYH9-related disorder [RCV004539100]|not provided [RCV003729271] |
Chr22:36292094 [GRCh38]
Chr22:36688140 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5014G>A (p.Glu1672Lys) |
single nucleotide variant |
not provided [RCV003709564] |
Chr22:36286765 [GRCh38]
Chr22:36682811 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1992G>A (p.Thr664=) |
single nucleotide variant |
MYH9-related disorder [RCV004733630]|not provided [RCV003731059] |
Chr22:36306459 [GRCh38]
Chr22:36702505 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.288G>A (p.Ser96=) |
single nucleotide variant |
not provided [RCV003732995] |
Chr22:36348949 [GRCh38]
Chr22:36744994 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2247C>T (p.Leu749=) |
single nucleotide variant |
not provided [RCV003867256] |
Chr22:36304138 [GRCh38]
Chr22:36700184 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5643G>A (p.Glu1881=) |
single nucleotide variant |
not provided [RCV003686009] |
Chr22:36284215 [GRCh38]
Chr22:36680261 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3693C>T (p.Asn1231=) |
single nucleotide variant |
MYH9-related disorder [RCV004539090]|not provided [RCV003723035] |
Chr22:36294236 [GRCh38]
Chr22:36690282 [GRCh37]
Chr22:22q12.3 |
benign|likely benign |
| NM_002473.6(MYH9):c.5189G>A (p.Arg1730His) |
single nucleotide variant |
not provided [RCV003727192] |
Chr22:36285743 [GRCh38]
Chr22:36681789 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5646C>T (p.Ala1882=) |
single nucleotide variant |
not provided [RCV003738620] |
Chr22:36284212 [GRCh38]
Chr22:36680258 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.3101-10T>G |
single nucleotide variant |
not provided [RCV003723137] |
Chr22:36297024 [GRCh38]
Chr22:36693070 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5171A>G (p.Lys1724Arg) |
single nucleotide variant |
not provided [RCV003733637] |
Chr22:36285761 [GRCh38]
Chr22:36681807 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4898G>A (p.Arg1633Gln) |
single nucleotide variant |
not provided [RCV003735747] |
Chr22:36288286 [GRCh38]
Chr22:36684332 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.5592+7G>A |
single nucleotide variant |
not provided [RCV003554785] |
Chr22:36284396 [GRCh38]
Chr22:36680442 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2422G>T (p.Ala808Ser) |
single nucleotide variant |
not provided [RCV003869043] |
Chr22:36302645 [GRCh38]
Chr22:36698691 [GRCh37]
Chr22:22q12.3 |
benign |
| NM_002473.6(MYH9):c.2029G>C (p.Glu677Gln) |
single nucleotide variant |
not provided [RCV003552899] |
Chr22:36306422 [GRCh38]
Chr22:36702468 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1896G>A (p.Leu632=) |
single nucleotide variant |
not provided [RCV003733597] |
Chr22:36306555 [GRCh38]
Chr22:36702601 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.706-9C>G |
single nucleotide variant |
not provided [RCV003844187] |
Chr22:36321830 [GRCh38]
Chr22:36717875 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3110G>T (p.Arg1037Leu) |
single nucleotide variant |
not provided [RCV003681169] |
Chr22:36297005 [GRCh38]
Chr22:36693051 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3230A>C (p.Gln1077Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004654363]|not provided [RCV003841731] |
Chr22:36296885 [GRCh38]
Chr22:36692931 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2390+20C>T |
single nucleotide variant |
not provided [RCV003856975] |
Chr22:36303975 [GRCh38]
Chr22:36700021 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2499+7G>A |
single nucleotide variant |
not provided [RCV003705210] |
Chr22:36302561 [GRCh38]
Chr22:36698607 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2391-17T>C |
single nucleotide variant |
not provided [RCV003710615] |
Chr22:36302693 [GRCh38]
Chr22:36698739 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3802C>T (p.Arg1268Cys) |
single nucleotide variant |
not provided [RCV003864437] |
Chr22:36294127 [GRCh38]
Chr22:36690173 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5661G>A (p.Gln1887=) |
single nucleotide variant |
not provided [RCV003846725] |
Chr22:36284197 [GRCh38]
Chr22:36680243 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3729G>C (p.Ser1243=) |
single nucleotide variant |
MYH9-related disorder [RCV004733623]|not provided [RCV003553543] |
Chr22:36294200 [GRCh38]
Chr22:36690246 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3124_3144dup (p.Lys1048_Thr1049insGlnArgGlnGluLeuGluLys) |
duplication |
not provided [RCV003550685] |
Chr22:36296970..36296971 [GRCh38]
Chr22:36693016..36693017 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1807T>G (p.Ser603Ala) |
single nucleotide variant |
not provided [RCV003550709] |
Chr22:36309318 [GRCh38]
Chr22:36705363 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3608A>G (p.Glu1203Gly) |
single nucleotide variant |
not provided [RCV003705529] |
Chr22:36294954 [GRCh38]
Chr22:36691000 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1913C>T (p.Thr638Met) |
single nucleotide variant |
not provided [RCV003683370] |
Chr22:36306538 [GRCh38]
Chr22:36702584 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5515C>T (p.Arg1839Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004447572] |
Chr22:36284480 [GRCh38]
Chr22:36680526 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1764C>T (p.Asn588=) |
single nucleotide variant |
MYH9-related disorder [RCV004539206] |
Chr22:36309361 [GRCh38]
Chr22:36705406 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+29G>T |
single nucleotide variant |
MYH9-related disorder [RCV004542405] |
Chr22:36284064 [GRCh38]
Chr22:36680110 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.177G>A (p.Val59=) |
single nucleotide variant |
MYH9-related disorder [RCV004542370] |
Chr22:36349060 [GRCh38]
Chr22:36745105 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5795G>A (p.Arg1932His) |
single nucleotide variant |
Inborn genetic diseases [RCV004447575] |
Chr22:36282756 [GRCh38]
Chr22:36678802 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.138C>G (p.Leu46=) |
single nucleotide variant |
MYH9-related disorder [RCV004544025] |
Chr22:36349099 [GRCh38]
Chr22:36745144 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.869-4dup |
duplication |
not provided [RCV003887169] |
Chr22:36320366..36320367 [GRCh38]
Chr22:36716411..36716412 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1335C>G (p.Ala445=) |
single nucleotide variant |
MYH9-related disorder [RCV004531952] |
Chr22:36316562 [GRCh38]
Chr22:36712607 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1543A>C (p.Ile515Leu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555258] |
Chr22:36314156 [GRCh38]
Chr22:36710201 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1572T>A (p.Ile524=) |
single nucleotide variant |
MYH9-related disorder [RCV004544167] |
Chr22:36312205 [GRCh38]
Chr22:36708250 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5158G>T (p.Ala1720Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004447551] |
Chr22:36285774 [GRCh38]
Chr22:36681820 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2711C>T (p.Ala904Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004447438] |
Chr22:36300978 [GRCh38]
Chr22:36697024 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.*2C>T |
single nucleotide variant |
MYH9-related disorder [RCV004531912] |
Chr22:36282666 [GRCh38]
Chr22:36678712 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3282G>C (p.Glu1094Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004447457] |
Chr22:36295708 [GRCh38]
Chr22:36691754 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3307C>T (p.Leu1103Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004447461] |
Chr22:36295683 [GRCh38]
Chr22:36691729 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4879G>A (p.Asp1627Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004447528] |
Chr22:36288305 [GRCh38]
Chr22:36684351 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4221C>T (p.Ala1407=) |
single nucleotide variant |
MYH9-related disorder [RCV004532196] |
Chr22:36292109 [GRCh38]
Chr22:36688155 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5133C>T (p.Ala1711=) |
single nucleotide variant |
MYH9-related disorder [RCV004534524] |
Chr22:36285882 [GRCh38]
Chr22:36681928 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NC_000022.10:g.(?_36677325)_(36714371_36715584)dup |
duplication |
not specified [RCV003988274] |
Chr22:36677325..36714371 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.422A>G (p.Lys141Arg) |
single nucleotide variant |
MYH9-related disorder [RCV004544166] |
Chr22:36341438 [GRCh38]
Chr22:36737483 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5483+10C>T |
single nucleotide variant |
MYH9-related disorder [RCV004544101] |
Chr22:36285111 [GRCh38]
Chr22:36681157 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5765+2dup |
duplication |
MYH9-related disorder [RCV004534456] |
Chr22:36284090..36284091 [GRCh38]
Chr22:36680136..36680137 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5765+34G>A |
single nucleotide variant |
MYH9-related disorder [RCV004532091] |
Chr22:36284059 [GRCh38]
Chr22:36680105 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5866G>T (p.Ala1956Ser) |
single nucleotide variant |
MYH9-related disorder [RCV004544130] |
Chr22:36282685 [GRCh38]
Chr22:36678731 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4771-10C>T |
single nucleotide variant |
MYH9-related disorder [RCV004540763] |
Chr22:36288423 [GRCh38]
Chr22:36684469 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4595A>G (p.Gln1532Arg) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004546884] |
Chr22:36288902 [GRCh38]
Chr22:36684948 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3840G>A (p.Val1280=) |
single nucleotide variant |
MYH9-related disorder [RCV004544120] |
Chr22:36293861 [GRCh38]
Chr22:36689907 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3423A>G (p.Leu1141=) |
single nucleotide variant |
MYH9-related disorder [RCV004537113] |
Chr22:36295567 [GRCh38]
Chr22:36691613 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.300C>A (p.Asn100Lys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003984908] |
Chr22:36348937 [GRCh38]
Chr22:36744982 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.60G>T (p.Pro20=) |
single nucleotide variant |
MYH9-related disorder [RCV004534590] |
Chr22:36349177 [GRCh38]
Chr22:36745222 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2340C>T (p.Thr780=) |
single nucleotide variant |
MYH9-related disorder [RCV004532032] |
Chr22:36304045 [GRCh38]
Chr22:36700091 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2619G>A (p.Thr873=) |
single nucleotide variant |
MYH9-related disorder [RCV004544002] |
Chr22:36301546 [GRCh38]
Chr22:36697592 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3546C>A (p.Thr1182=) |
single nucleotide variant |
MYH9-related disorder [RCV004540975] |
Chr22:36295016 [GRCh38]
Chr22:36691062 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5596G>A (p.Asp1866Asn) |
single nucleotide variant |
not provided [RCV004546397] |
Chr22:36284262 [GRCh38]
Chr22:36680308 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.362T>G (p.Ile121Ser) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555288] |
Chr22:36341498 [GRCh38]
Chr22:36737543 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1051A>G (p.Asn351Asp) |
single nucleotide variant |
not provided [RCV003887531] |
Chr22:36319597 [GRCh38]
Chr22:36715642 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2490C>T (p.Leu830=) |
single nucleotide variant |
MYH9-related disorder [RCV004532120] |
Chr22:36302577 [GRCh38]
Chr22:36698623 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1729-8C>T |
single nucleotide variant |
MYH9-related disorder [RCV004543979] |
Chr22:36309404 [GRCh38]
Chr22:36705449 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.4932+6G>T |
single nucleotide variant |
MYH9-related disorder [RCV004733770] |
Chr22:36288246 [GRCh38]
Chr22:36684292 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2255A>G (p.Asn752Ser) |
single nucleotide variant |
MYH9-related disorder [RCV004733870] |
Chr22:36304130 [GRCh38]
Chr22:36700176 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2109C>T (p.Ile703=) |
single nucleotide variant |
MYH9-related disorder [RCV004531975] |
Chr22:36305980 [GRCh38]
Chr22:36702026 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.718C>T (p.Arg240Cys) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992040] |
Chr22:36321809 [GRCh38]
Chr22:36717854 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4271A>C (p.Asp1424Ala) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992042] |
Chr22:36292059 [GRCh38]
Chr22:36688105 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.4771-3C>G |
single nucleotide variant |
MYH9-related disorder [RCV004542530] |
Chr22:36288416 [GRCh38]
Chr22:36684462 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3943-8G>A |
single nucleotide variant |
MYH9-related disorder [RCV004542376] |
Chr22:36293489 [GRCh38]
Chr22:36689535 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2206G>A (p.Gly736Arg) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003990525] |
Chr22:36305056 [GRCh38]
Chr22:36701102 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.518+5G>A |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003992091] |
Chr22:36327456 [GRCh38]
Chr22:36723501 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.364A>G (p.Asn122Asp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV003991229] |
Chr22:36341496 [GRCh38]
Chr22:36737541 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.5722G>T (p.Asp1908Tyr) |
single nucleotide variant |
not provided [RCV004018164] |
Chr22:36284136 [GRCh38]
Chr22:36680182 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2545_2565dup (p.Val855_Lys856insAlaLysGluGluGluLeuVal) |
duplication |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555235] |
Chr22:36301599..36301600 [GRCh38]
Chr22:36697645..36697646 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2151_2152delinsCG (p.Arg718Gly) |
indel |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555405] |
Chr22:36305937..36305938 [GRCh38]
Chr22:36701983..36701984 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3058A>G (p.Lys1020Glu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004555437] |
Chr22:36298961 [GRCh38]
Chr22:36695007 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4095+12_4095+20del |
deletion |
not specified [RCV004586158] |
Chr22:36293309..36293317 [GRCh38]
Chr22:36689355..36689363 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1271G>T (p.Arg424Leu) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004566432] |
Chr22:36316626 [GRCh38]
Chr22:36712671 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.264G>T (p.Glu88Asp) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004674047] |
Chr22:36348973 [GRCh38]
Chr22:36745018 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4423G>A (p.Glu1475Lys) |
single nucleotide variant |
not specified [RCV004699947] |
Chr22:36289219 [GRCh38]
Chr22:36685265 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NC_000022.10:g.(?_36701956)_(36876884_?)dup |
duplication |
not provided [RCV004579251] |
Chr22:36701956..36876884 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NC_000022.10:g.(?_36651002)_(36712734_?)dup |
duplication |
not provided [RCV004579265] |
Chr22:36651002..36712734 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NC_000022.10:g.(?_36694945)_(36876884_?)dup |
duplication |
not provided [RCV004579262] |
Chr22:36694945..36876884 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV004585120] |
Chr22:36348957 [GRCh38]
Chr22:36745002 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2163T>G (p.Tyr721Ter) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 17 [RCV004585119] |
Chr22:36305099 [GRCh38]
Chr22:36701145 [GRCh37]
Chr22:22q12.3 |
pathogenic |
| NM_002473.6(MYH9):c.5596G>T (p.Asp1866Tyr) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004598384] |
Chr22:36284262 [GRCh38]
Chr22:36680308 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3630G>A (p.Arg1210=) |
single nucleotide variant |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV004598357] |
Chr22:36294932 [GRCh38]
Chr22:36690978 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2343C>G (p.Asp781Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004645810] |
Chr22:36304042 [GRCh38]
Chr22:36700088 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2876G>A (p.Arg959Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004649793] |
Chr22:36300227 [GRCh38]
Chr22:36696273 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2083A>G (p.Asn695Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004649794] |
Chr22:36306006 [GRCh38]
Chr22:36702052 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5350G>C (p.Glu1784Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004649795] |
Chr22:36285254 [GRCh38]
Chr22:36681300 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4379A>G (p.Tyr1460Cys) |
single nucleotide variant |
MYH9-related disorder [RCV004728564] |
Chr22:36289263 [GRCh38]
Chr22:36685309 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.737A>G (p.Asn246Ser) |
single nucleotide variant |
MYH9-related disorder [RCV004733774] |
Chr22:36321790 [GRCh38]
Chr22:36717835 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.279C>T (p.Asn93=) |
single nucleotide variant |
MYH9-related disorder [RCV004733875] |
Chr22:36348958 [GRCh38]
Chr22:36745003 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.130G>C (p.Ala44Pro) |
single nucleotide variant |
MYH9-related disorder [RCV004733899] |
Chr22:36349107 [GRCh38]
Chr22:36745152 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.2773GAG[4] (p.Glu929del) |
microsatellite |
MYH9-related disorder [RCV004733793] |
Chr22:36300902..36300904 [GRCh38]
Chr22:36696948..36696950 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.3322G>C (p.Glu1108Gln) |
single nucleotide variant |
not provided [RCV004771372] |
Chr22:36295668 [GRCh38]
Chr22:36691714 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3323A>G (p.Glu1108Gly) |
single nucleotide variant |
not provided [RCV004723750] |
Chr22:36295667 [GRCh38]
Chr22:36691713 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.491-9_491-8del |
deletion |
MYH9-related disorder [RCV004730164] |
Chr22:36327496..36327497 [GRCh38]
Chr22:36723541..36723542 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2606C>A (p.Thr869Lys) |
single nucleotide variant |
not provided [RCV004773479] |
Chr22:36301559 [GRCh38]
Chr22:36697605 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.4997C>T (p.Ala1666Val) |
single nucleotide variant |
not provided [RCV004761390] |
|
uncertain significance |
| NM_002473.6(MYH9):c.3437C>G (p.Thr1146Arg) |
single nucleotide variant |
not provided [RCV004723743] |
Chr22:36295553 [GRCh38]
Chr22:36691599 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5380C>G (p.Leu1794Val) |
single nucleotide variant |
MYH9-related disorder [RCV004733763] |
Chr22:36285224 [GRCh38]
Chr22:36681270 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5508G>C (p.Gln1836His) |
single nucleotide variant |
MYH9-related disorder [RCV004733964] |
Chr22:36284487 [GRCh38]
Chr22:36680533 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.5462A>G (p.Glu1821Gly) |
single nucleotide variant |
MYH9-related disorder [RCV004733878] |
Chr22:36285142 [GRCh38]
Chr22:36681188 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.3897C>T (p.Leu1299=) |
single nucleotide variant |
MYH9-related disorder [RCV004726465] |
Chr22:36293804 [GRCh38]
Chr22:36689850 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.2417T>G (p.Leu806Arg) |
single nucleotide variant |
not provided [RCV004774840] |
Chr22:36302650 [GRCh38]
Chr22:36698696 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.1338C>A (p.Ser446=) |
single nucleotide variant |
MYH9-related disorder [RCV004733677] |
Chr22:36316559 [GRCh38]
Chr22:36712604 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1332C>T (p.Gly444=) |
single nucleotide variant |
MYH9-related disorder [RCV004733684] |
Chr22:36316565 [GRCh38]
Chr22:36712610 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1161A>C (p.Arg387Ser) |
single nucleotide variant |
not provided [RCV004773731] |
Chr22:36318273 [GRCh38]
Chr22:36714318 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2194G>A (p.Gly732Ser) |
single nucleotide variant |
not provided [RCV004727755] |
Chr22:36305068 [GRCh38]
Chr22:36701114 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.2785G>T (p.Glu929Ter) |
single nucleotide variant |
MYH9-related disorder [RCV004728119] |
Chr22:36300904 [GRCh38]
Chr22:36696950 [GRCh37]
Chr22:22q12.3 |
likely pathogenic |
| NM_002473.6(MYH9):c.1335C>T (p.Ala445=) |
single nucleotide variant |
MYH9-related disorder [RCV004733710] |
Chr22:36316562 [GRCh38]
Chr22:36712607 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.1338C>G (p.Ser446=) |
single nucleotide variant |
MYH9-related disorder [RCV004733747] |
Chr22:36316559 [GRCh38]
Chr22:36712604 [GRCh37]
Chr22:22q12.3 |
likely benign |
| NM_002473.6(MYH9):c.5775C>A (p.Asp1925Glu) |
single nucleotide variant |
MYH9-related disorder [RCV004729665] |
Chr22:36282776 [GRCh38]
Chr22:36678822 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.218AGA[1] (p.Lys74del) |
microsatellite |
not specified [RCV004766587] |
Chr22:36349014..36349016 [GRCh38]
Chr22:36745059..36745061 [GRCh37]
Chr22:22q12.3 |
uncertain significance |
| NM_002473.6(MYH9):c.423G>C (p.Lys141Asn) |
single nucleotide variant |
not provided [RCV004761720] |
|
uncertain significance |
