C3495498[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 201943	NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr)	NEXN (I532T +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1CC +4 more	GUncertain significance
Select item 1025712	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)	CAV3 (Q12R)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 798090	NM_033337.3(CAV3):c.60G>A (p.Lys20=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic
Select item 31740	NM_033337.3(CAV3):c.114+2T>C	CAV3	Single nucleotide variant (splice donor variant)	Long QT syndrome +5 more	GPathogenic
Select item 409255	NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)	CAV3, OXTR (E42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 409259	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)	CAV3, OXTR (P48R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +13 more	GBenign/Likely benign
Select item 409254	NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)	CAV3, OXTR (S61N)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 409256	NM_033337.3(CAV3):c.221G>A (p.Arg74His)	CAV3, OXTR (R74H)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 1025525	NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)	CAV3, OXTR (P83S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 457130	NM_033337.3(CAV3):c.254C>T (p.Ala85Val)	CAV3, OXTR (A85V)	Single nucleotide variant (missense variant)	Rippling muscle disease 2 +5 more	GUncertain significance
Select item 1349629	NM_033337.3(CAV3):c.310G>C (p.Val104Leu)	CAV3, OXTR (V104L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 840845	NM_033337.3(CAV3):c.310G>A (p.Val104Met)	CAV3, OXTR (V104M)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +10 more	GBenign/Likely benign
Select item 288112	NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)	CAV3, OXTR (A134T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 279736	NM_033337.3(CAV3):c.401C>T (p.Ala134Val)	CAV3, OXTR (A134V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 180800	NM_033337.3(CAV3):c.433G>A (p.Val145Met)	OXTR, CAV3 (V145M)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 900587	NM_033337.3(CAV3):c.*134G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 902273	NM_033337.3(CAV3):c.*441T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 346854	NM_033337.3(CAV3):c.*592G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 903140	NM_033337.3(CAV3):c.*658T>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 346857	NM_033337.3(CAV3):c.*741G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 346862	NM_033337.3(CAV3):c.*834A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346863	NM_033337.3(CAV3):c.*852G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 178014	NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)	CSRP3 (Q91L)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 1 +4 more	GUncertain significance
Select item 520355	NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys)	CSRP3 (R64C)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 42669	NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	MYBPC3 (Q969*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 4 +5 more	GPathogenic
Select item 42650	NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)	MYBPC3 (W890*)	Single nucleotide variant (nonsense)	Cardiomyopathy +5 more	GPathogenic
Select item 217837	NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)	MYBPC3 (A851V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 161308	NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)	MYBPC3 (V771M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GConflicting classifications of pathogenicity
Select item 8608	NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	MYBPC3 (E542Q)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 161312	NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)	MYBPC3 (R273H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 4 +6 more	GUncertain significance
Select item 217839	NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)	MYBPC3 (G5W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 31766	NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)	MYL2 (N47K)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 1016822	NM_002471.4(MYH6):c.5797-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 566642	NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter)	MYH6 (K1932*)	Single nucleotide variant (nonsense)	not provided +6 more	GUncertain significance
Select item 180428	NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu)	MYH6 (R1927L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 179021	NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)	MYH6 (A1912V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 392233	NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)	MYH6 (R1899H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 647390	NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys)	MYH6 (R1899C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 263719	NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)	MYH6 (F1898V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 1677799	NM_002471.4(MYH6):c.5662-2A>G	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 414327	NM_002471.4(MYH6):c.5661+9A>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +4 more	GLikely benign
Select item 520363	NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)	MYH6 (A1887V)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 1414226	NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn)	MYH6 (K1876N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 582103	NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)	MYH6 (K1876R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 520531	NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)	MYH6 (R1865Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 684811	NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)	MYH6 (R1865W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 1218642	NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 264189	NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln)	MYH6 (R1847Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 264214	NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)	MYH6 (K1840R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +8 more	GUncertain significance
Select item 470547	NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)	MYH6 (S1838L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 848866	NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)	MYH6 (R1834H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 196975	NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys)	MYH6 (E1831K)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GUncertain significance
Select item 1053161	NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp)	MYH6 (E1827D)	Single nucleotide variant (missense variant)	Sick sinus syndrome 3, susceptibility to +4 more	GUncertain significance
Select item 44537	NM_002471.4(MYH6):c.5475G>A (p.Glu1825=)	MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GBenign
Select item 1038078	NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln)	MYH6 (R1820Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 228897	NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp)	MYH6 (R1820W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1496424	NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)	MYH6 (R1798W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 312845	NM_002471.4(MYH6):c.5367G>A (p.Glu1789=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 1046641	NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met)	MYH6 (L1781M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 520372	NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr)	MYH6 (M1766T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 44533	NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)	MYH6 (A1765T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GConflicting classifications of pathogenicity
Select item 807073	NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)	MYH6 (A1760T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 239178	NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 191709	NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)	LOC126861896, MYH6 (S1712I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +7 more	GUncertain significance
Select item 537951	NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln)	LOC126861896, MYH6 (R1701Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 373555	NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)	LOC126861896, MYH6 (V1693M)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 178868	NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)	LOC126861896, MYH6 (R1691H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +8 more	GUncertain significance
Select item 1026007	NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys)	LOC126861896, MYH6 (R1691C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance
Select item 1398688	NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)	LOC126861896, MYH6 (D1668H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 407143	NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)	LOC126861896, MYH6 (R1664H)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 179576	NM_002471.4(MYH6):c.4960-9G>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +7 more	GBenign
Select item 222717	NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys)	LOC126861896, MYH6 (E1640K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 849171	NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser)	LOC126861896, MYH6 (N1625S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 470545	NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)	MYH6, LOC126861896	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14 +6 more	GLikely benign
Select item 312849	NM_002471.4(MYH6):c.4829G>A (p.Arg1610His)	LOC126861896, MYH6 (R1610H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 228895	NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)	MYH6, LOC126861896 (R1610C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 373551	NM_002471.4(MYH6):c.4823G>A (p.Arg1608His)	LOC126861896, MYH6 (R1608H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 191710	NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys)	LOC126861896, MYH6 (R1608C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +6 more	GUncertain significance
Select item 518175	NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 1393906	NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu)	LOC126861896, MYH6 (S1598L)	Single nucleotide variant (missense variant)	Sick sinus syndrome 3, susceptibility to +4 more	GUncertain significance
Select item 44519	NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)	LOC126861896, MYH6 (N1591S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +6 more	GUncertain significance
Select item 520529	NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser)	LOC126861896, MYH6 (R1590S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 44518	NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys)	LOC126861896, MYH6 (E1583K)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 180427	NM_002471.4(MYH6):c.4713G>T (p.Lys1571Asn)	LOC126861896, MYH6 (K1571N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 870081	NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)	LOC126861896, MYH6 (R1562L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +7 more	GUncertain significance
Select item 1556905	NM_002471.4(MYH6):c.4651-14C>A	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1EE +4 more	GLikely benign
Select item 577110	NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)	MYH6 (L1542M)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 44516	NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +7 more	GBenign/Likely benign
Select item 1121627	NM_002471.4(MYH6):c.4526-9G>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
Select item 1038731	NM_002471.4(MYH6):c.4525+3G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14 +4 more	GUncertain significance
Select item 44513	NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)	MYH6 (R1502Q)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 520364	NM_002471.4(MYH6):c.4504C>A (p.Arg1502=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +5 more	GLikely benign
Select item 978731	NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)	MYH6 (E1491K)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +6 more	GUncertain significance
Select item 537959	NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly)	MYH6 (S1480G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 191711	NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)	MYH6 (R1477C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +6 more	GUncertain significance
Select item 1315359	NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu)	MYH6 (Q1466E)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 470540	NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu)	MYH6 (Q1466E)	Indel (missense variant)	Hypertrophic cardiomyopathy 14 +5 more	GUncertain significance

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