C0007194[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 229051	NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)	NEXN (R392* +1 more)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 298100	NM_144573.4(NEXN):c.*418del	NEXN	Deletion (3 prime UTR variant)	Hypertrophic cardiomyopathy 20 +3 more	GUncertain significance
Select item 242003	NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	LMNA (H506P +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +20 more	GUncertain significance
Select item 177636	NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)	TNNT2 (W287* +5 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 43674	NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)	TNNT2 (R278H +5 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43636	NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	TNNT2 (R130C +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 43627	NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)	TNNT2 (R102W +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +9 more	GPathogenic
Select item 43626	NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)	TNNT2 (D86A +3 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 188678	NM_001276345.2(TNNT2):c.42-20G>A	TNNT2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 810757	NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala)	ACTN2 (E375A +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 427953	NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	RYR2 (H464Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
Select item 532370	NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)	RYR2 (T858M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 427954	NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn)	RYR2 (D1396N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 580627	NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)	RYR2 (R1463C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 45353	NM_005633.4(SOS1):c.2673+14T>C	SOS1	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 40697	NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)	SOS1 (A708T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 203112	NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)	TTN, TTN-AS1 (P34061L +5 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +9 more	GConflicting classifications of pathogenicity
Select item 691680	NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu)	TTN, TTN-AS1 (P19717L +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 694546	NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu)	TTN, TTN-AS1 (K11617E +5 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 332822	NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)	LOC126806424, TTN +1 more (A19971V +5 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +10 more	GUncertain significance
Select item 281858	NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)	LOC126806426, TTN +1 more (V14693M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +7 more	GUncertain significance
Select item 332865	NM_001267550.2(TTN):c.44913+10dup	TTN	Duplication (intron variant)	Tibial muscular dystrophy +8 more	GConflicting classifications of pathogenicity
Select item 810749	NM_001267550.2(TTN):c.30248G>A (p.Arg10083His)	TTN (R10083H +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +6 more	GUncertain significance
Select item 809053	NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp)	TTN (R5555W +2 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, myofibrillar, 9, with early respiratory failure +7 more	GUncertain significance
Select item 192075	NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)	TTN (H2223L +1 more)	Single nucleotide variant (missense variant)	Myopathy, myofibrillar, 9, with early respiratory failure +9 more	GConflicting classifications of pathogenicity
Select item 646696	NM_001927.4(DES):c.662C>T (p.Ala221Val)	DES (A221V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 48298	NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)	LOC110121269, SCN5A (P1089L +1 more)	Single nucleotide variant (missense variant +1 more)	Sick sinus syndrome 1 +13 more	GBenign/Likely benign
Select item 1172131	NM_000258.3(MYL3):c.557A>C (p.Glu186Ala)	MYL3 (E186A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 36648	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)	MYL3 (E177G)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 31779	NM_000258.3(MYL3):c.517A>G (p.Met173Val)	MYL3 (M173V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1144683	NM_000258.3(MYL3):c.507G>A (p.Val169=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 14062	NM_000258.3(MYL3):c.461G>A (p.Arg154His)	MYL3 (R154H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 426252	NM_000258.3(MYL3):c.449G>A (p.Gly150Asp)	MYL3 (G150D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1011968	NM_000258.3(MYL3):c.308-3C>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 8 +2 more	GUncertain significance
Select item 1284021	NM_000258.3(MYL3):c.307+16G>A	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 8 +2 more	GBenign/Likely benign
Select item 952795	NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)	MYL3 (R81W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 161329	NM_000258.3(MYL3):c.235G>A (p.Val79Ile)	MYL3 (V79I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 639935	NM_000258.3(MYL3):c.170C>T (p.Ala57Val)	MYL3 (A57V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1402380	NM_000258.3(MYL3):c.158-2A>G	MYL3	Single nucleotide variant (splice acceptor variant)	Hypertrophic cardiomyopathy 8 +1 more	GUncertain significance
Select item 43119	NM_000258.3(MYL3):c.130-14G>T	MYL3	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 951125	NM_000258.3(MYL3):c.71C>T (p.Ala24Val)	MYL3 (A24V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 922760	NM_000258.3(MYL3):c.61C>T (p.Pro21Ser)	MYL3 (P21S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 164491	NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)	MYL3 (A2P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 970431	NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs)	MYL3 (M1fs)	Indel (frameshift variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 12443	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)	TNNC1 (A8V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 374153	NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	CASR (V817I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant hypocalcemia 1 +9 more	GLikely pathogenic
Select item 427963	NM_001148.6(ANK2):c.6078A>T (p.Lys2026Asn)	ANK2, LOC126807136 (K2026N +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 238596	NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe)	ANK2 (L3200F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GLikely benign
Select item 347405	NM_016599.5(MYOZ2):c.-15+11dup	MYOZ2	Duplication (intron variant)	Hypertrophic cardiomyopathy 16 +2 more	GBenign/Likely benign
Select item 1465143	NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)	MYOZ2 (M1L)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1421517	NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)	MYOZ2 (H4L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1041934	NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)	MYOZ2 (M7V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +2 more	GUncertain significance
Select item 45781	NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)	MYOZ2 (Q10R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 45780	NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)	MYOZ2 (Q10P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +5 more	GBenign/Likely benign
Select item 213656	NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)	MYOZ2 (R61C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +3 more	GUncertain significance
Select item 191742	NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)	MYOZ2 (S101*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 16 +4 more	GUncertain significance
Select item 412240	NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)	MYOZ2 (R115*)	Single nucleotide variant (nonsense)	Cardiomyopathy +3 more	GUncertain significance
Select item 45783	NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)	MYOZ2 (Q149H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +3 more	GUncertain significance
Select item 45784	NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)	MYOZ2 (L163S)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 191745	NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)	MYOZ2 (P225L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +3 more	GUncertain significance
Select item 454464	NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)	MYOZ2 (T249A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1450707	NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys)	MYOZ2 (E251K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 347423	NM_016599.5(MYOZ2):c.*1262dup	MYOZ2	Duplication (3 prime UTR variant)	Hypertrophic cardiomyopathy 16 +1 more	GUncertain significance
Select item 347424	NM_016599.5(MYOZ2):c.*1262del	MYOZ2	Deletion (3 prime UTR variant)	Hypertrophic cardiomyopathy 16 +1 more	GUncertain significance
Select item 44929	NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)	DSP (E1833V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +12 more	GBenign/Likely benign
Select item 44963	NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)	DSP (T2767N +2 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +12 more	GBenign/Likely benign
Select item 137173	NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)	DSP (I2869V +2 more)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign
Select item 355134	NM_001042475.3(CEP85L):c.1020+17181A>T	PLN, CEP85L	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 573774	NM_002667.5(PLN):c.53T>C (p.Ile18Thr)	CEP85L, PLN (I18T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P +4 more	GUncertain significance
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 3 +10 more	GUncertain significance
Select item 177820	NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)	PRKAG2 (Q503R +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 222771	NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)	PRKAG2 (I492N +4 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1303564	NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)	PRKAG2 (T191M +4 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +5 more	GUncertain significance
Select item 919004	NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)	PRKAG2 (S172C +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 626749	NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)	PRKAG2 (S333A +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 45736	NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)	PRKAG2 (V289I +4 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 241096	NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)	PRKAG2 (P198L +2 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern +6 more	GUncertain significance
Select item 1284416	NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)	PRKAG2 (P153L +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 6 +4 more	GUncertain significance
Select item 572592	NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)	PRKAG2 (S194L +2 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern +5 more	GUncertain significance
Select item 181487	NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)	PRKAG2 (R186Q +2 more)	Single nucleotide variant (missense variant)	Lethal congenital glycogen storage disease of heart +6 more	GUncertain significance
Select item 181469	NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)	PRKAG2 (R186W +2 more)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern +6 more	GConflicting classifications of pathogenicity
Select item 45717	NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	PRKAG2 (T142I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 359347	NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)	PRKAG2 (K132R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 912141	NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)	PRKAG2 (P114L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 695734	NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)	PRKAG2	Single nucleotide variant (synonymous variant)	Lethal congenital glycogen storage disease of heart +5 more	GLikely benign
Select item 696154	NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)	PRKAG2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GLikely benign
Select item 520489	NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)	PRKAG2 (K11E)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 12198	NM_014000.3(VCL):c.829C>A (p.Leu277Met)	VCL (L277M)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 536711	NM_014000.3(VCL):c.853C>T (p.Arg285Cys)	VCL (R285C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1W +2 more	GUncertain significance
Select item 166551	NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)	VCL (L682F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 45556	NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)	LDB3 (R229C +2 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 4 +3 more	GUncertain significance
Select item 645954	NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)	RBM20 (E918del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 580192	NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)	BAG3 (Y508C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +4 more	GConflicting classifications of pathogenicity
Select item 163009	NM_003476.5(CSRP3):c.437G>A (p.Arg146His)	CSRP3 (R146H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 426380	NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)	CSRP3 (R146C)	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy +5 more	GUncertain significance
Select item 8780	NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)	CSRP3 (K69R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 919413	NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)	MYBPC3 (R1271Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 42744	NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	MYBPC3 (R1271*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 407316	NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)	MYBPC3 (R1267C)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 42743	NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)	MYBPC3 (C1266Y)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance

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