C1863659[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341490	NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 164412	NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp)	MYH9 (R1936W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 341491	NM_002473.6(MYH9):c.5765+9C>T	MYH9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 +2 more	GLikely benign
Select item 1192912	NM_002473.6(MYH9):c.5593-4G>A	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 164415	NM_002473.6(MYH9):c.5593-14G>T	MYH9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 717105	NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val)	MYH9 (L1848V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 1636042	NM_002473.6(MYH9):c.5483+18C>T	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 1361814	NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr)	MYH9 (H1772Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GUncertain significance
Select item 179621	NM_002473.6(MYH9):c.5275-10del	MYH9	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1684933	NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp)	MYH9 (R1751W)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	GUncertain significance
Select item 179171	NM_002473.6(MYH9):c.5235G>A (p.Thr1745=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GLikely benign
Select item 499790	NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser)	MYH9 (A1729S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GConflicting classifications of pathogenicity
Select item 1120128	NM_002473.6(MYH9):c.5177G>A (p.Arg1726His)	MYH9 (R1726H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1380025	NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp)	MYH9 (R1725W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178427	NM_002473.6(MYH9):c.5049C>A (p.Ile1683=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 178428	NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign/Likely benign
Select item 179150	NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met)	MYH9 (L1643M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GUncertain significance
Select item 1524931	NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp)	MYH9 (R1633W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1348422	NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu)	MYH9 (S1628L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 38967	NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val)	MYH9 (I1626V)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +4 more	GBenign
Select item 1691804	NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln)	MYH9 (K1585Q)	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1481801	NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val)	MYH9 (L1562V)	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 497444	NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg)	MYH9 (K1555R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GUncertain significance
Select item 1655956	NM_002473.6(MYH9):c.4558-11C>G	MYH9	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 164431	NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)	MYH9 (S1519N)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 164432	NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu)	MYH9 (V1516L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 164433	NM_002473.6(MYH9):c.4479G>A (p.Ala1493=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GLikely benign
Select item 1303195	NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val)	MYH9 (A1451V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 227612	NM_002473.6(MYH9):c.4344+10C>T	MYH9	Single nucleotide variant (intron variant)	MYH9-related disorder +4 more	GBenign/Likely benign
Select item 164437	NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr)	MYH9 (A1436T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 623101	NM_002473.6(MYH9):c.4302G>C (p.Gln1434His)	MYH9 (Q1434H)	Single nucleotide variant (missense variant)	MYH9-related disorder +3 more	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 14082	NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)	MYH9 (D1424N)	Single nucleotide variant (missense variant)	MYH9-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 734223	NM_002473.6(MYH9):c.4218C>T (p.Ala1406=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 179380	NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu)	MYH9 (D1393E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1580694	NM_002473.6(MYH9):c.4128T>C (p.Ser1376=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 1567853	NM_002473.6(MYH9):c.4095+20C>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GBenign/Likely benign
Select item 1200464	NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly)	MYH9 (A1360G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 228927	NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp)	MYH9 (E1350D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 809357	NM_002473.6(MYH9):c.4008C>T (p.Asp1336=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1361564	NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn)	MYH9 (D1293N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 1194904	NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn)	MYH9 (D1273N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 591921	NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu)	MYH9 (K1248E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1339049	NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu)	MYH9 (S1243L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +1 more	GUncertain significance
Select item 932921	NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg)	MYH9 (K1234R)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GUncertain significance
Select item 1370545	NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu)	MYH9 (R1226L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 341511	NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln)	MYH9 (R1226Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1678043	NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys)	MYH9 (E1225K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1197067	NM_002473.6(MYH9):c.3485+18G>C	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign/Likely benign
Select item 1425680	NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met)	MYH9 (T1151M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 506192	NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu)	MYH9 (Q1133E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 179084	NM_002473.6(MYH9):c.3384T>C (p.Asn1128=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1659751	NM_002473.6(MYH9):c.3272+19C>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 666861	NM_002473.6(MYH9):c.3272+3G>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GUncertain significance
Select item 227607	NM_002473.6(MYH9):c.3255C>T (p.Leu1085=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 667130	NM_002473.6(MYH9):c.3246G>A (p.Glu1082=)	MYH9	Single nucleotide variant (synonymous variant)	Nephrotic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 680871	NM_002473.6(MYH9):c.3195C>A (p.Ala1065=)	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 1341864	NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr)	MYH9 (A1065T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 666864	NM_002473.6(MYH9):c.3082A>G (p.Met1028Val)	MYH9 (M1028V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1519109	NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val)	MYH9 (L1008V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GConflicting classifications of pathogenicity
Select item 1223302	NM_002473.6(MYH9):c.2913G>A (p.Ala971=)	LOC126863137, MYH9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 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 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 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 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 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 901170	NM_002473.6(MYH9):c.2500-9C>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GConflicting classifications of pathogenicity
Select item 164451	NM_002473.6(MYH9):c.2500-14A>G	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign/Likely benign
Select item 1310780	NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser)	MYH9 (G766S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GUncertain significance
Select item 341521	NM_002473.6(MYH9):c.2295C>T (p.Ala765=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +4 more	GBenign/Likely benign
Select item 1466883	NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys)	MYH9 (R755C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 761447	NM_002473.6(MYH9):c.2230-9C>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 164454	NM_002473.6(MYH9):c.2229+13G>T	MYH9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 228924	NM_002473.6(MYH9):c.2159+6C>T	MYH9	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 623108	NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)	MYH9 (R718W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1217938	NM_002473.6(MYH9):c.2115C>T (p.Arg705=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 14078	NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	MYH9 (R702C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 17 +3 more	GPathogenic
Select item 717124	NM_002473.6(MYH9):c.2085C>T (p.Asn695=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GLikely benign
Select item 44553	NM_002473.6(MYH9):c.2038-5T>C	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +5 more	GBenign/Likely benign
Select item 179211	NM_002473.6(MYH9):c.2037+14G>T	MYH9	Single nucleotide variant (intron variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +3 more	GLikely benign
Select item 164455	NM_002473.6(MYH9):c.1843+14C>A	MYH9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 180032	NM_002473.6(MYH9):c.1843+12G>C	MYH9	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
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 44552	NM_002473.6(MYH9):c.1729-6C>T	MYH9	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 17 +5 more	GBenign/Likely benign
Select item 517199	NM_002473.6(MYH9):c.1686G>A (p.Leu562=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1609184	NM_002473.6(MYH9):c.1518C>T (p.Leu506=)	MYH9	Single nucleotide variant (synonymous variant)	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +2 more	GLikely benign
Select item 258727	NM_002473.6(MYH9):c.1228-16C>T	MYH9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 164459	NM_002473.6(MYH9):c.1212G>A (p.Ala404=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1404635	NM_002473.6(MYH9):c.1201G>A (p.Val401Ile)	MYH9 (V401I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1215168	NM_002473.6(MYH9):c.1167C>T (p.Ile389=)	MYH9	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 17 +2 more	GBenign/Likely benign
Select item 258724	NM_002473.6(MYH9):c.1108+19C>T	MYH9	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 44549	NM_002473.6(MYH9):c.1108+9C>T	MYH9	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 179427	NM_002473.6(MYH9):c.1056C>T (p.Ile352=)	MYH9	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1529014	NM_002473.6(MYH9):c.1012+20A>G	MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 228931	NM_002473.6(MYH9):c.928A>G (p.Ile310Val)	MYH9 (I310V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 227620	NM_002473.6(MYH9):c.888G>A (p.Pro296=)	MYH9	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1647415	NM_002473.6(MYH9):c.868+14C>T	MYH9	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign

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