CN239310[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 155

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298100	NM_144573.4(NEXN):c.*418del	NEXN	Deletion (3 prime UTR variant)	Hypertrophic cardiomyopathy 20 +3 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)	Hypertrophic cardiomyopathy +10 more	GUncertain significance
Select item 332865	NM_001267550.2(TTN):c.44913+10dup	TTN	Duplication (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more	GConflicting classifications of pathogenicity
Select item 44273	NM_001927.4(DES):c.897+4_897+5del	DES	Deletion	Myofibrillar Myopathy, Dominant +9 more	GBenign/Likely benign
Select item 345122	NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe)	LOC110121269, SCN5A (L939F)	Single nucleotide variant (missense variant)	Brugada syndrome +14 more	GUncertain significance
Select item 180512	NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)	SCN5A (R533H)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +18 more	GConflicting classifications of pathogenicity
Select item 352334	NM_000337.6(SGCD):c.475G>A (p.Val159Ile)	SGCD (V159I +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1L +4 more	GUncertain significance
Select item 352425	NM_000337.6(SGCD):c.*6660dup	SGCD	Duplication (3 prime UTR variant)	Dilated cardiomyopathy 1L +4 more	GUncertain significance
Select item 355134	NM_002667.5(PLN):c.-142T>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 857181	NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)	FLNC (D27E)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 660428	NM_001458.5(FLNC):c.470G>A (p.Arg157His)	FLNC (R157H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 382744	NM_001458.5(FLNC):c.561C>T (p.Asp187=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 195145	NM_001458.5(FLNC):c.597C>T (p.Ala199=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 424399	NM_001458.5(FLNC):c.643G>A (p.Val215Met)	FLNC (V215M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1126280	NM_001458.5(FLNC):c.651C>T (p.Asn217=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 858685	NM_001458.5(FLNC):c.905C>T (p.Thr302Met)	FLNC (T302M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 566787	NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)	FLNC (E309K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +5 more	GUncertain significance
Select item 650633	NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)	FLNC (R334C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 680003	NM_001458.5(FLNC):c.1026C>T (p.Pro342=)	FLNC	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 539348	NM_001458.5(FLNC):c.1054G>A (p.Val352Met)	FLNC (V352M)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 441151	NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)	FLNC (R361C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 374556	NM_001458.5(FLNC):c.1082G>A (p.Arg361His)	FLNC (R361H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +5 more	GUncertain significance
Select item 654981	NM_001458.5(FLNC):c.1142G>A (p.Arg381His)	FLNC (R381H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +6 more	GConflicting classifications of pathogenicity
Select item 418214	NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)	FLNC (G389D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +7 more	GConflicting classifications of pathogenicity
Select item 852984	NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)	FLNC (T402I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 659222	NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)	FLNC (D409N)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 539342	NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)	FLNC (R420Q)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GConflicting classifications of pathogenicity
Select item 471966	NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)	FLNC (R421W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 843845	NM_001458.5(FLNC):c.1328C>T (p.Ala443Val)	FLNC (A443V)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 568601	NM_001458.5(FLNC):c.1471G>A (p.Val491Met)	FLNC (V491M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +5 more	GConflicting classifications of pathogenicity
Select item 539426	NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr)	FLNC (K514T)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 1430109	NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln)	FLNC (E534Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 471982	NM_001458.5(FLNC):c.1605C>T (p.Cys535=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 471983	NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)	FLNC (E536K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 938478	NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)	FLNC (V563A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 471987	NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)	FLNC (V586A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 580201	NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)	FLNC (S589L)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 471992	NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)	FLNC (D646del)	Deletion (inframe_deletion)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 1013011	NM_001458.5(FLNC):c.2008-6G>A	FLNC	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +3 more	GLikely benign
Select item 574180	NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)	FLNC (P675S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1059845	NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)	FLNC (A688T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +3 more	GConflicting classifications of pathogenicity
Select item 1284495	NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys)	FLNC (E689K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 472004	NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)	FLNC (R766W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 472005	NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)	FLNC (R766Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +5 more	GConflicting classifications of pathogenicity
Select item 752226	NM_001458.5(FLNC):c.2307G>A (p.Val769=)	FLNC	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 5 +4 more	GLikely benign
Select item 1016730	NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)	FLNC (G771S)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 539364	NM_001458.5(FLNC):c.2376C>T (p.Ser792=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GConflicting classifications of pathogenicity
Select item 258137	NM_001458.5(FLNC):c.2390-14C>T	FLNC	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 472008	NM_001458.5(FLNC):c.2390-9T>C	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +6 more	GBenign/Likely benign
Select item 472011	NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)	FLNC (G802S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 1061043	NM_001458.5(FLNC):c.2424C>T (p.Gly808=)	FLNC	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +4 more	GConflicting classifications of pathogenicity
Select item 228692	NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)	FLNC (I817T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 654582	NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala)	FLNC (T834A)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GUncertain significance
Select item 837353	NM_001458.5(FLNC):c.2519G>A (p.Arg840His)	FLNC (R840H)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 649876	NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)	FLNC (S868G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GUncertain significance
Select item 472016	NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)	FLNC (R879C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +6 more	GConflicting classifications of pathogenicity
Select item 1046652	NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)	FLNC (E913K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 472021	NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)	FLNC (G948R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 267288	NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)	FLNC (R991*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 258139	NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 950591	NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)	FLNC (R1002W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 487593	NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu)	FLNC (S1005L)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 472026	NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)	FLNC (R1008C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 472027	NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)	FLNC (G1019C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 432753	NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)	FLNC (H1045N)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 658275	NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe)	FLNC (G1049F)	Indel (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 573818	NM_001458.5(FLNC):c.3193-2A>G	FLNC	Single nucleotide variant (splice acceptor variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 1450050	NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val)	FLNC (A1136V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 427928	NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)	FLNC (A1186V)	Single nucleotide variant (missense variant)	Abnormality of the musculature +6 more	GPathogenic/Likely pathogenic
Select item 966556	NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)	FLNC (R1241H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 576780	NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)	FLNC (R1267W)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 539361	NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)	FLNC (S1296L)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GConflicting classifications of pathogenicity
Select item 1525008	NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu)	FLNC (G1297E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 424359	NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val)	FLNC (A1298V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 472053	NM_001458.5(FLNC):c.3964+9C>T	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +5 more	GBenign/Likely benign
Select item 472055	NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr)	FLNC (A1334T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +3 more	GUncertain significance
Select item 645204	NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)	FLNC (R1352H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 539407	NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)	FLNC (P1358R)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GConflicting classifications of pathogenicity
Select item 450150	NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)	FLNC (R1434H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 580605	NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)	FLNC (G1456A)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 574130	NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)	FLNC (E1492K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +4 more	GUncertain significance
Select item 472071	NM_001458.5(FLNC):c.4581-5T>A	FLNC	Single nucleotide variant (intron variant)	Myofibrillar myopathy 5 +6 more	GBenign/Likely benign
Select item 1091760	NM_001458.5(FLNC):c.4650C>T (p.Asn1550=)	FLNC	Single nucleotide variant (synonymous variant)	Distal myopathy with posterior leg and anterior hand involvement +4 more	GLikely benign
Select item 639563	NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)	FLNC (R1567W)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 472076	NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)	FLNC (A1569T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GConflicting classifications of pathogenicity
Select item 472079	NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met)	FLNC (T1597M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 970691	NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)	FLNC (S1637R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 258144	NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 472084	NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)	FLNC (G1674S)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GConflicting classifications of pathogenicity
Select item 1122631	NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)	FLNC	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 26 +4 more	GLikely benign
Select item 387408	NM_001458.5(FLNC):c.5070C>T (p.Leu1690=)	FLNC	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 570701	NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)	FLNC (D1691N)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 567840	NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)	FLNC (E1710K)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 569395	NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)	FLNC (P1711L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 645600	NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala)	FLNC (G1722A)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +4 more	GUncertain significance
Select item 472094	NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)	FLNC (P1739L)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 1035946	NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser)	FLNC (P1748S)	Single nucleotide variant (missense variant +1 more)	Distal myopathy with posterior leg and anterior hand involvement +3 more	GUncertain significance
Select item 570505	NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)	FLNC (R1758W)	Single nucleotide variant (missense variant +1 more)	Distal myopathy with posterior leg and anterior hand involvement +6 more	GConflicting classifications of pathogenicity
Select item 472098	NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)	FLNC (G1760S)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 129092	NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)	FLNC-AS1, FLNC (V1793M +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2