"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MYH9"[gene - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341458	NM_002473.6(MYH9):c.*1329C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign/Likely benign
Select item 341477	NM_002473.6(MYH9):c.*474C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 341481	NM_002473.6(MYH9):c.*243C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 341488	NM_002473.6(MYH9):c.*81C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder +2 more	GBenign/Likely benign
Select item 228922	NM_002473.6(MYH9):c.*8C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 871550	NM_002473.6(MYH9):c.5829C>T (p.Ser1943=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 44573	NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)	MYH9 (G1940R)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GBenign/Likely benign
Select item 14072	NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)	MYH9 (R1933*)	Single nucleotide variant (nonsense)	MYH9-related disorder +2 more	GPathogenic
Select item 903289	NM_002473.6(MYH9):c.5787C>T (p.Val1929=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GConflicting classifications of pathogenicity
Select item 871829	NM_002473.6(MYH9):c.5785del (p.Val1929fs)	MYH9 (V1929fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 903290	NM_002473.6(MYH9):c.5769C>T (p.Arg1923=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 737359	NM_002473.6(MYH9):c.5764A>C (p.Arg1922=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GLikely benign
Select item 2653097	NM_002473.6(MYH9):c.5710A>G (p.Thr1904Ala)	MYH9 (T1904A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258758	NM_002473.6(MYH9):c.5709C>T (p.Ala1903=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 623990	NM_002473.6(MYH9):c.5695G>A (p.Glu1899Lys)	MYH9 (E1899K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809356	NM_002473.6(MYH9):c.5610C>T (p.Thr1870=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 164415	NM_002473.6(MYH9):c.5593-14G>T	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GBenign/Likely benign
Select item 2653098	NM_002473.6(MYH9):c.5592+6G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1176769	NM_002473.6(MYH9):c.5564G>A (p.Arg1855Gln)	MYH9 (R1855Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14073	NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)	MYH9 (E1841K)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2653099	NM_002473.6(MYH9):c.5483+4C>A	MYH9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2498903	NM_002473.6(MYH9):c.5425A>C (p.Ile1809Leu)	MYH9 (I1809L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902509	NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg)	MYH9 (K1793R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 44569	NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)	MYH9 (K1775E)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GLikely benign
Select item 2653100	NM_002473.6(MYH9):c.5292C>T (p.Thr1764=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 226752	NM_002473.6(MYH9):c.5181G>A (p.Leu1727=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 44568	NM_002473.6(MYH9):c.5151-4G>A	MYH9	Single nucleotide variant (intron variant)	MYH9-related condition +2 more	GConflicting classifications of pathogenicity
Select item 164421	NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)	MYH9 (K1676E)	Single nucleotide variant (missense variant)	MYH9-related condition +5 more	GConflicting classifications of pathogenicity
Select item 178429	NM_002473.6(MYH9):c.4956C>T (p.Arg1652=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +3 more	GBenign/Likely benign
Select item 44567	NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)	MYH9 (M1651T)	Single nucleotide variant (missense variant)	MYH9-related disorder +5 more	GBenign/Likely benign
Select item 2653101	NM_002473.6(MYH9):c.4913A>G (p.Lys1638Arg)	MYH9 (K1638R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178431	NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2653102	NM_002473.6(MYH9):c.4644G>A (p.Leu1548=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1707043	NM_002473.6(MYH9):c.4406C>T (p.Ala1469Val)	MYH9 (A1469V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 493341	NM_002473.6(MYH9):c.4298G>A (p.Arg1433His)	MYH9 (R1433H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 164439	NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn)	MYH9 (D1409N)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 44562	NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)	MYH9 (R1400W)	Single nucleotide variant (missense variant)	MYH9-related disorder +5 more	GBenign/Likely benign
Select item 2672906	NM_002473.6(MYH9):c.4136G>A (p.Cys1379Tyr)	MYH9 (C1379Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 341507	NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln)	MYH9 (R1342Q)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 227610	NM_002473.6(MYH9):c.4023C>T (p.Phe1341=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 809357	NM_002473.6(MYH9):c.4008C>T (p.Asp1336=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related condition +3 more	GBenign/Likely benign
Select item 1176770	NM_002473.6(MYH9):c.3786C>T (p.Asn1262=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335482	NM_002473.6(MYH9):c.3683A>T (p.Glu1228Val)	MYH9 (E1228V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653103	NM_002473.6(MYH9):c.3681G>T (p.Gly1227=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370545	NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)	MYH9 (R1226L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 341514	NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val)	MYH9 (A1202V)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GUncertain significance
Select item 14074	NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)	MYH9 (R1165C)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GPathogenic
Select item 164442	NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)	MYH9 (S1114P)	Single nucleotide variant (missense variant)	MYH9-related condition +5 more	GConflicting classifications of pathogenicity
Select item 178434	NM_002473.6(MYH9):c.3216G>A (p.Ala1072=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +4 more	GBenign/Likely benign
Select item 44557	NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1691816	NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys)	MYH9 (S1061C)	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 623991	NM_002473.6(MYH9):c.3177C>T (p.Asp1059=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1223302	NM_002473.6(MYH9):c.2913G>A (p.Ala971=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign/Likely benign
Select item 164446	NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)	LOC126863137, MYH9 (A958T)	Single nucleotide variant (missense variant)	MYH9-related condition +4 more	GConflicting classifications of pathogenicity
Select item 164445	NM_002473.6(MYH9):c.2721C>T (p.Thr907=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +3 more	GBenign/Likely benign
Select item 1711550	NM_002473.6(MYH9):c.2655G>A (p.Leu885=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598191	NM_002473.6(MYH9):c.2591C>T (p.Ala864Val)	MYH9 (A864V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 164449	NM_002473.6(MYH9):c.2517G>A (p.Gln839=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related condition +4 more	GBenign
Select item 1701436	NM_002473.6(MYH9):c.2285_2288delinsGGCCACA (p.Phe762_Phe763delinsTrpProHis)	MYH9	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2578922	NM_002473.6(MYH9):c.2230-5C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 623108	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9 (R718W)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 14081	NM_002473.6(MYH9):c.2105G>A (p.Arg702His)	MYH9 (R702H)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 227603	NM_002473.6(MYH9):c.1890C>T (p.Thr630=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 798943	NM_002473.6(MYH9):c.1788C>T (p.Ile596=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 227602	NM_002473.6(MYH9):c.1722C>T (p.Ala574=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 178435	NM_002473.6(MYH9):c.1555-12C>T	MYH9	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 809358	NM_002473.6(MYH9):c.1519G>A (p.Asp507Asn)	MYH9 (D507N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183363	NM_002473.6(MYH9):c.1368C>T (p.Phe456=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871830	NM_002473.6(MYH9):c.1270C>T (p.Arg424Trp)	MYH9 (R424W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178436	NM_002473.6(MYH9):c.1242C>T (p.Ile414=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +3 more	GBenign/Likely benign
Select item 164460	NM_002473.6(MYH9):c.1158C>T (p.Thr386=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related condition +4 more	GBenign/Likely benign
Select item 258726	NM_002473.6(MYH9):c.1149C>T (p.Thr383=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44548	NM_002473.6(MYH9):c.1083C>T (p.Asp361=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder +4 more	GBenign/Likely benign
Select item 3027138	NM_002473.6(MYH9):c.1051A>G (p.Asn351Asp)	MYH9 (N351D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026776	NM_002473.6(MYH9):c.869-4dup	MYH9	Duplication (intron variant)	not provided	GUncertain significance
Select item 164465	NM_002473.6(MYH9):c.468C>T (p.Thr156=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 14083	NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)	MYH9 (S96L)	Single nucleotide variant (missense variant)	MYH9-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2571156	NM_002473.6(MYH9):c.153C>T (p.Gly51=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related condition +1 more	GBenign/Likely benign
Select item 178438	NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)	MYH9 (L46F)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GBenign/Likely benign
Select item 598317	NM_002473.6(MYH9):c.108C>T (p.Ser36=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 493342	NM_002473.6(MYH9):c.32_33del (p.Tyr11fs)	MYH9 (Y11fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2653104	NM_002473.6(MYH9):c.21T>C (p.Asp7=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 178439	NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)	MYH9 (Q3E)	Single nucleotide variant (missense variant)	MYH9-related disorder +5 more	GBenign/Likely benign

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Items: 83