Related gene-specific medical variations for Gene (Select 4627) - ClinVar

Links from Gene

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361677	NM_002473.6(MYH9):c.423G>C (p.Lys141Asn)	MYH9 (K141N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361347	NM_002473.6(MYH9):c.4997C>T (p.Ala1666Val)	MYH9 (A1666V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351939	NM_002473.6(MYH9):c.2773GAG[4] (p.Glu929del)	LOC126863137, MYH9 (E929del)	Microsatellite (inframe_indel +1 more)	MYH9-related disorder	GLikely benign
Select item 3344504	NM_002473.6(MYH9):c.2785G>T (p.Glu929Ter)	LOC126863137, MYH9 (E929*)	Single nucleotide variant (nonsense)	MYH9-related disorder	GLikely pathogenic
Select item 3297558	NM_002473.6(MYH9):c.2876G>A (p.Arg959Gln)	LOC126863137, MYH9 (R959Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257732	NM_002473.6(MYH9):c.264G>T (p.Glu88Asp)	MYH9 (E88D)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3159083	NM_002473.6(MYH9):c.2711C>T (p.Ala904Val)	LOC126863137, MYH9 (A904V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065448	NM_002473.6(MYH9):c.2206G>A (p.Gly736Arg)	MYH9 (G736R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3010136	NM_002473.6(MYH9):c.4933-14_4933-13delinsAA	MIR6819, MYH9	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3008436	NM_002473.6(MYH9):c.2898G>T (p.Lys966Asn)	LOC126863137, MYH9 (K966N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976367	NM_002473.6(MYH9):c.2838+11G>A	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975477	NM_002473.6(MYH9):c.2838+12C>A	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973994	NM_002473.6(MYH9):c.2976+19G>A	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973897	NM_002473.6(MYH9):c.4933-11C>A	MIR6819, MYH9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2970596	NM_002473.6(MYH9):c.2679C>T (p.Thr893=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969807	NM_002473.6(MYH9):c.4933-6C>T	MIR6819, MYH9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2802400	NM_002473.6(MYH9):c.2972C>G (p.Ala991Gly)	LOC126863137, MYH9 (A991G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791054	NM_002473.6(MYH9):c.2819A>T (p.Lys940Met)	LOC126863137, MYH9 (K940M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2790885	NM_002473.6(MYH9):c.2814G>C (p.Lys938Asn)	LOC126863137, MYH9 (K938N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776382	NM_002473.6(MYH9):c.2868G>A (p.Glu956=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711257	NM_002473.6(MYH9):c.2658G>A (p.Gln886=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683941	NM_002473.6(MYH9):c.1184A>C (p.Lys395Thr)	MYH9 (K395T)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 2627059	NM_002473.6(MYH9):c.3244GAG[2] (p.Glu1084del)	MYH9 (E1084del)	Microsatellite (inframe_deletion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 2584578	NM_002473.6(MYH9):c.2161_2165del	MYH9	Deletion (splice acceptor variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GUncertain significance
Select item 2582540	NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys)	MYH9 (E1522K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GUncertain significance
Select item 2500720	NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)	LOC126863137, MYH9 (E894K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 2433952	NM_002473.6(MYH9):c.2803C>G (p.Gln935Glu)	MYH9, LOC126863137 (Q935E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433951	NM_002473.6(MYH9):c.3894G>T (p.Lys1298Asn)	MYH9 (K1298N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138444	NM_002473.6(MYH9):c.2728A>C (p.Lys910Gln)	LOC126863137, MYH9 (K910Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2051194	NM_002473.6(MYH9):c.2856G>A (p.Leu952=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994333	NM_002473.6(MYH9):c.2632-19T>C	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926954	NM_002473.6(MYH9):c.2838+16A>G	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909711	NM_002473.6(MYH9):c.2976+17T>A	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899649	NM_002473.6(MYH9):c.2976+18C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804967	NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln)	LOC126863137, MYH9 (K989Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 1804897	NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln)	LOC126863137, MYH9 (K974Q)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GConflicting classifications of pathogenicity
Select item 1711550	NM_002473.6(MYH9):c.2655G>A (p.Leu885=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708863	NM_002473.6(MYH9):c.2807C>T (p.Ala936Val)	LOC126863137, MYH9 (A936V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1705104	NM_002473.6(MYH9):c.2976+9C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1703776	NM_002473.6(MYH9):c.2707C>G (p.Arg903Gly)	LOC126863137, MYH9 (R903G)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 1696936	NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys)	LOC126863137, MYH9 (R905C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1691244	NM_002473.6(MYH9):c.2788C>G (p.Arg930Gly)	LOC126863137, MYH9 (R930G)	Single nucleotide variant (missense variant)	Macrothrombocytopenia	GLikely pathogenic
Select item 1691243	NM_002473.6(MYH9):c.2707C>T (p.Arg903Trp)	LOC126863137, MYH9 (R903W)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 1684934	NM_002473.6(MYH9):c.2725_2726del (p.Lys909fs)	LOC126863137, MYH9 (K909fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1676398	NM_002473.6(MYH9):c.2344G>A (p.Val782Ile)	MYH9 (V782I)	Single nucleotide variant	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1593559	NM_002473.6(MYH9):c.2844T>G (p.Leu948=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1553602	NM_002473.6(MYH9):c.2838+10C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 1551397	NM_002473.6(MYH9):c.2763G>A (p.Glu921=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319193	NM_002473.6(MYH9):c.5555A>T (p.Asp1852Val)	MYH9 (D1852V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279060	NM_002473.6(MYH9):c.2838+182C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275758	NM_002473.6(MYH9):c.5822del (p.Asp1941fs)	MYH9 (D1941fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1258318	NM_002473.6(MYH9):c.2976+86G>A	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223302	NM_002473.6(MYH9):c.2913G>A (p.Ala971=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GBenign/Likely benign
Select item 1208085	NM_002473.6(MYH9):c.2838+120A>G	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204293	NM_002473.6(MYH9):c.2838+19C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1190640	NM_002473.6(MYH9):c.2976+10G>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182168	NM_002473.6(MYH9):c.2838+250G>A	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931800	NM_002473.6(MYH9):c.1960C>G (p.Leu654Val)	MYH9 (L654V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 900503	NM_002473.6(MYH9):c.-86G>T	LOC112695089, MYH9	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 900007	NM_002473.6(MYH9):c.2653C>T (p.Leu885=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 811088	NM_002473.6(MYH9):c.334-17G>T	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 740213	NM_002473.6(MYH9):c.2646A>G (p.Lys882=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718790	NM_002473.6(MYH9):c.2820G>A (p.Lys940=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 682257	NM_002473.6(MYH9):c.2911G>A (p.Ala971Thr)	LOC126863137, MYH9 (A971T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 666867	NM_002473.6(MYH9):c.2958G>C (p.Gln986His)	LOC126863137, MYH9 (Q986H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 623097	NM_002473.6(MYH9):c.2761G>A (p.Glu921Lys)	LOC126863137, MYH9 (E921K)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 623096	NM_002473.6(MYH9):c.2668del (p.Gln890fs)	LOC126863137, MYH9 (Q890fs)	Deletion (frameshift variant)	MYH9-related disorder	GLikely pathogenic
Select item 591808	NM_002473.6(MYH9):c.1492G>A (p.Glu498Lys)	MYH9 (E498K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591143	NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del)	LOC126863137, MYH9 (K940del)	Microsatellite (inframe_deletion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 523083	NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del)	MYH9 (K1585del)	Microsatellite (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 17	GUncertain significance
Select item 505651	NM_002473.6(MYH9):c.2839-6C>T	LOC126863137, MYH9	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 505110	NM_002473.6(MYH9):c.2719A>G (p.Thr907Ala)	LOC126863137, MYH9 (T907A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504625	NM_002473.6(MYH9):c.2691C>T (p.Ala897=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GConflicting classifications of pathogenicity
Select item 501396	NM_002473.6(MYH9):c.2907C>T (p.Thr969=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 498749	NM_002473.6(MYH9):c.2679C>A (p.Thr893=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided +1 more	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 341540	NM_002473.6(MYH9):c.-163C>G	LOC112695089, MYH9	Single nucleotide variant (5 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341539	NM_002473.6(MYH9):c.-153C>T	LOC112695089, MYH9	Single nucleotide variant (5 prime UTR variant)	MYH9-related disorder +1 more	GUncertain significance
Select item 341518	NM_002473.6(MYH9):c.2632-8_2632-6del	LOC126863137, MYH9	Microsatellite (intron variant)	Nonsyndromic Hearing Loss, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 258767	NM_002473.6(MYH9):c.769+30C>A	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258762	NM_002473.6(MYH9):c.613-32C>T	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258757	NM_002473.6(MYH9):c.5484-36G>A	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258748	NM_002473.6(MYH9):c.3942+11C>T	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258743	NM_002473.6(MYH9):c.3486-32G>A	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258741	NM_002473.6(MYH9):c.3273-25C>T	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258737	NM_002473.6(MYH9):c.2871C>T (p.Ser957=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258736	NM_002473.6(MYH9):c.2808G>A (p.Ala936=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 258734	NM_002473.6(MYH9):c.2160-37A>T	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258732	NM_002473.6(MYH9):c.2037+43G>T	MYH9	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258725	NM_002473.6(MYH9):c.1108+38G>A	MYH9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 179251	NM_002473.6(MYH9):c.2789G>A (p.Arg930His)	LOC126863137, MYH9 (R930H)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more	GUncertain significance
Select item 164450	NM_002473.6(MYH9):c.2635A>C (p.Met879Leu)	LOC126863137, MYH9 (M879L)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GBenign/Likely benign
Select item 164448	NM_002473.6(MYH9):c.2714G>A (p.Arg905His)	LOC126863137, MYH9 (R905H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 164447	NM_002473.6(MYH9):c.2766C>G (p.Ala922=)	MYH9, LOC126863137	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 164446	NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)	LOC126863137, MYH9 (A958T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 164445	NM_002473.6(MYH9):c.2721C>T (p.Thr907=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GBenign/Likely benign

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Items: 96