ClinVar for Gene (Select 4627) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251714	NM_002473.6(MYH9):c.4095+12_4095+20del	MYH9	Deletion (intron variant)	not specified	GLikely benign
Select item 3250388	NM_002473.6(MYH9):c.280G>A (p.Glu94Lys)	MYH9 (E94K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17	GLikely pathogenic
Select item 3250387	NM_002473.6(MYH9):c.2163T>G (p.Tyr721Ter)	MYH9 (Y721*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 17	GPathogenic
Select item 3248098	NC_000022.10:g.(?_36651002)_(36712734_?)dup	APOL1, MYH9	Duplication	not provided	GUncertain significance
Select item 3248095	NC_000022.10:g.(?_36694945)_(36876884_?)dup	MYH9, TXN2	Duplication	not provided	GUncertain significance
Select item 3248084	NC_000022.10:g.(?_36701956)_(36876884_?)dup	MYH9, TXN2	Duplication	not provided	GUncertain significance
Select item 3236181	NM_002473.6(MYH9):c.3058A>G (p.Lys1020Glu)	MYH9 (K1020E)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3236144	NM_002473.6(MYH9):c.2151_2152delinsCG (p.Arg718Gly)	MYH9 (R718G)	Indel (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3236027	NM_002473.6(MYH9):c.362T>G (p.Ile121Ser)	MYH9 (I121S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3235997	NM_002473.6(MYH9):c.1543A>C (p.Ile515Leu)	MYH9 (I515L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3235974	NM_002473.6(MYH9):c.2545_2565dup (p.Val855_Lys856insAlaLysGluGluGluLeuVal)	MYH9	Duplication (inframe_insertion)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3235196	NM_002473.6(MYH9):c.1271G>T (p.Arg424Leu)	MYH9 (R424L)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3234544	NM_002473.6(MYH9):c.5596G>A (p.Asp1866Asn)	MYH9 (D1866N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234040	NM_002473.6(MYH9):c.4595A>G (p.Gln1532Arg)	MYH9 (Q1532R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3159220	NM_002473.6(MYH9):c.5795G>A (p.Arg1932His)	MYH9 (R1932H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159217	NM_002473.6(MYH9):c.5515C>T (p.Arg1839Trp)	MYH9 (R1839W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159196	NM_002473.6(MYH9):c.5158G>T (p.Ala1720Ser)	MYH9 (A1720S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3159173	NM_002473.6(MYH9):c.4879G>A (p.Asp1627Asn)	MYH9 (D1627N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159106	NM_002473.6(MYH9):c.3307C>T (p.Leu1103Phe)	MYH9 (L1103F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3159102	NM_002473.6(MYH9):c.3282G>C (p.Glu1094Asp)	MYH9 (E1094D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3075846	NM_002473.6(MYH9):c.5722G>T (p.Asp1908Tyr)	MYH9 (D1908Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068601	NM_002473.6(MYH9):c.4400C>T (p.Ala1467Val)	MYH9 (A1467V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3068416	NM_002473.6(MYH9):c.518+5G>A	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3068367	NM_002473.6(MYH9):c.4271A>C (p.Asp1424Ala)	MYH9 (D1424A)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GPathogenic
Select item 3068365	NM_002473.6(MYH9):c.718C>T (p.Arg240Cys)	MYH9 (R240C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3066225	NM_002473.6(MYH9):c.364A>G (p.Asn122Asp)	MYH9 (N122D)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GLikely pathogenic
Select item 3065448	NM_002473.6(MYH9):c.2206G>A (p.Gly736Arg)	MYH9 (G736R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3063686	NC_000022.10:g.(?_36677325)_(36714371_36715584)dup	MYH9	Duplication	not specified	GUncertain significance
Select item 3061861	NM_002473.6(MYH9):c.300C>A (p.Asn100Lys)	MYH9 (N100K)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	GUncertain significance
Select item 3061486	NM_002473.6(MYH9):c.1572T>A (p.Ile524=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3061483	NM_002473.6(MYH9):c.422A>G (p.Lys141Arg)	MYH9 (K141R)	Single nucleotide variant (missense variant)	MYH9-related disorder	GUncertain significance
Select item 3059064	NM_002473.6(MYH9):c.4771-3C>G	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder	GLikely benign
Select item 3057854	NM_002473.6(MYH9):c.3546C>A (p.Thr1182=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3054222	NM_002473.6(MYH9):c.4771-10C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder	GLikely benign
Select item 3050157	NM_002473.6(MYH9):c.5866G>T (p.Ala1956Ser)	MYH9 (A1956S)	Single nucleotide variant (missense variant)	MYH9-related disorder	GUncertain significance
Select item 3049944	NM_002473.6(MYH9):c.3840G>A (p.Val1280=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3049680	NM_002473.6(MYH9):c.5483+10C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder	GLikely benign
Select item 3048583	NM_002473.6(MYH9):c.138C>G (p.Leu46=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3048299	NM_002473.6(MYH9):c.2619G>A (p.Thr873=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3047996	NM_002473.6(MYH9):c.1729-8C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder	GLikely benign
Select item 3046544	NM_002473.6(MYH9):c.5765+29G>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder	GLikely benign
Select item 3046104	NM_002473.6(MYH9):c.3943-8G>A	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder	GLikely benign
Select item 3046020	NM_002473.6(MYH9):c.177G>A (p.Val59=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3043725	NM_002473.6(MYH9):c.4221C>T (p.Ala1407=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3042343	NM_002473.6(MYH9):c.2490C>T (p.Leu830=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3041696	NM_002473.6(MYH9):c.5765+34G>A	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder	GLikely benign
Select item 3040640	NM_002473.6(MYH9):c.2340C>T (p.Thr780=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3036338	NM_002473.6(MYH9):c.3423A>G (p.Leu1141=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3032337	NM_002473.6(MYH9):c.60G>T (p.Pro20=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GUncertain significance
Select item 3031857	NM_002473.6(MYH9):c.5133C>T (p.Ala1711=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3031387	NM_002473.6(MYH9):c.5765+2dup	MYH9	Duplication (splice donor variant)	MYH9-related disorder	GUncertain significance
Select item 3030935	NM_002473.6(MYH9):c.2109C>T (p.Ile703=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3030735	NM_002473.6(MYH9):c.1335C>G (p.Ala445=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely benign
Select item 3030443	NM_002473.6(MYH9):c.*2C>T	MYH9	Single nucleotide variant (3 prime UTR variant)	MYH9-related disorder	GLikely benign
Select item 3028995	NM_002473.6(MYH9):c.1764C>T (p.Asn588=)	MYH9	Single nucleotide variant (synonymous variant)	MYH9-related disorder	GLikely 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 3023224	NM_002473.6(MYH9):c.3408C>T (p.Asp1136=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022225	NM_002473.6(MYH9):c.2055G>A (p.Pro685=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021786	NM_002473.6(MYH9):c.3630+5G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021785	NM_002473.6(MYH9):c.4390C>T (p.Arg1464Cys)	MYH9 (R1464C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3021771	NM_002473.6(MYH9):c.4344+11G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021322	NM_002473.6(MYH9):c.491-18A>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020637	NM_002473.6(MYH9):c.790G>A (p.Ala264Thr)	MYH9 (A264T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3019120	NM_002473.6(MYH9):c.5711C>T (p.Thr1904Ile)	MYH9 (T1904I)	Single nucleotide variant (missense variant)	MYH9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3017619	NM_002473.6(MYH9):c.2221G>A (p.Val741Met)	MYH9 (V741M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016134	NM_002473.6(MYH9):c.3942+5G>C	MYH9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014695	NM_002473.6(MYH9):c.887C>T (p.Pro296Leu)	MYH9 (P296L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3014494	NM_002473.6(MYH9):c.714C>T (p.Phe238=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3012716	NM_002473.6(MYH9):c.3957G>A (p.Glu1319=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3012652	NM_002473.6(MYH9):c.3068A>G (p.Asn1023Ser)	MYH9 (N1023S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3012574	NM_002473.6(MYH9):c.3837+13C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012523	NM_002473.6(MYH9):c.4682A>G (p.Asn1561Ser)	MYH9 (N1561S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011878	NM_002473.6(MYH9):c.4932+12C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011144	NM_002473.6(MYH9):c.4497C>T (p.Asn1499=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010174	NM_002473.6(MYH9):c.4771-15T>C	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3010081	NM_002473.6(MYH9):c.2247C>T (p.Leu749=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009170	NM_002473.6(MYH9):c.2390+9C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3007838	NM_002473.6(MYH9):c.3802C>T (p.Arg1268Cys)	MYH9 (R1268C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3007404	NM_002473.6(MYH9):c.2422G>T (p.Ala808Ser)	MYH9 (A808S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3007253	NM_002473.6(MYH9):c.699C>T (p.Ser233=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005488	NM_002473.6(MYH9):c.2391-8C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004451	NM_002473.6(MYH9):c.5595C>T (p.Ala1865=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3003570	NM_002473.6(MYH9):c.5436C>T (p.Leu1812=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003422	NM_002473.6(MYH9):c.5498C>T (p.Ala1833Val)	MYH9 (A1833V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003358	NM_002473.6(MYH9):c.4775G>A (p.Arg1592Gln)	MYH9 (R1592Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003250	NM_002473.6(MYH9):c.5592+9G>A	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002972	NM_002473.6(MYH9):c.4512G>A (p.Thr1504=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000163	NM_002473.6(MYH9):c.4787C>G (p.Ala1596Gly)	MYH9 (A1596G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2999957	NM_002473.6(MYH9):c.4344+12T>C	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999956	NM_002473.6(MYH9):c.4698G>A (p.Lys1566=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2998312	NM_002473.6(MYH9):c.2390+20C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998165	NM_002473.6(MYH9):c.4864C>T (p.Leu1622=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998128	NM_002473.6(MYH9):c.2302C>T (p.Leu768=)	MYH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997376	NM_002473.6(MYH9):c.3785A>G (p.Asn1262Ser)	MYH9 (N1262S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2996442	NM_002473.6(MYH9):c.5062-19C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995122	NM_002473.6(MYH9):c.1228-18C>T	MYH9	Single nucleotide variant (intron variant)	not provided	GLikely benign

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