"Fulgent Genetics, Fulgent Genetics"[submitter] AND "APOB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 921025	NM_000384.3(APOB):c.13672G>A (p.Glu4558Lys)	APOB, APOB3'MAR (E4558K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 1042701	NM_000384.3(APOB):c.13607C>T (p.Thr4536Met)	APOB, APOB3'MAR (T4536M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 334067	NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys)	APOB, APOB3'MAR (Y4534C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GUncertain significance
Select item 630644	NM_000384.3(APOB):c.13586A>G (p.His4529Arg)	APOB, APOB3'MAR (H4529R)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 927119	NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr)	APOB (I4488T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 237740	NM_000384.3(APOB):c.13448C>T (p.Ala4483Val)	APOB (A4483V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 979090	NM_000384.3(APOB):c.13320del (p.Glu4441fs)	APOB (E4441fs)	Deletion (frameshift variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 928140	NM_000384.3(APOB):c.13319T>C (p.Val4440Ala)	APOB (V4440A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 920520	NM_000384.3(APOB):c.13238del (p.Asn4413fs)	APOB (N4413fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 402382	NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)	APOB (V4394A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 920526	NM_000384.3(APOB):c.13130T>C (p.Ile4377Thr)	APOB (I4377T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 664736	NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn)	APOB (I4326N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1384410	NM_000384.3(APOB):c.12959T>C (p.Met4320Thr)	APOB (M4320T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 630404	NM_000384.3(APOB):c.12890G>A (p.Arg4297His)	APOB (R4297H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 920530	NM_000384.3(APOB):c.12889C>T (p.Arg4297Cys)	APOB (R4297C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 921861	NM_000384.3(APOB):c.12851T>C (p.Phe4284Ser)	APOB (F4284S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 431503	NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala)	APOB (D4275A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GUncertain significance
Select item 925120	NM_000384.3(APOB):c.12779A>G (p.His4260Arg)	APOB (H4260R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 544074	NM_000384.3(APOB):c.12739C>T (p.Gln4247Ter)	APOB (Q4247*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +4 more	GUncertain significance
Select item 928142	NM_000384.3(APOB):c.12731C>G (p.Ser4244Cys)	APOB (S4244C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 922775	NM_000384.3(APOB):c.12698C>T (p.Ser4233Leu)	APOB (S4233L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 921269	NM_000384.3(APOB):c.12677C>T (p.Thr4226Met)	APOB (T4226M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 1404457	NM_000384.3(APOB):c.12635C>G (p.Thr4212Ser)	APOB (T4212S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 544066	NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile)	APOB (T4179I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 630649	NM_000384.3(APOB):c.12443_12444delinsAA (p.Ala4148Glu)	APOB (A4148E)	Indel (missense variant)	not provided +2 more	GUncertain significance
Select item 334077	NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp)	APOB (A4148D)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GUncertain significance
Select item 925126	NM_000384.3(APOB):c.12340T>C (p.Trp4114Arg)	APOB (W4114R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 855112	NM_000384.3(APOB):c.12309G>C (p.Lys4103Asn)	APOB (K4103N)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 927671	NM_000384.3(APOB):c.12136C>T (p.Arg4046Trp)	APOB (R4046W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 630242	NM_000384.3(APOB):c.12122C>G (p.Thr4041Ser)	APOB (T4041S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 1063988	NM_000384.3(APOB):c.12025G>A (p.Val4009Met)	APOB (V4009M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 898076	NM_000384.3(APOB):c.12005C>T (p.Ala4002Val)	APOB (A4002V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 630243	NM_000384.3(APOB):c.11946G>A (p.Ala3982=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 927679	NM_000384.3(APOB):c.11840G>A (p.Gly3947Glu)	APOB (G3947E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 334093	NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp)	APOB (G3939D)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 490381	NM_000384.3(APOB):c.11788+16C>T	APOB	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +2 more	GBenign/Likely benign
Select item 630245	NM_000384.3(APOB):c.11760C>T (p.Thr3920=)	APOB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 918453	NM_000384.3(APOB):c.11744C>T (p.Ser3915Phe)	APOB (S3915F)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 918458	NM_000384.3(APOB):c.11503A>C (p.Ile3835Leu)	APOB (I3835L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 895150	NM_000384.3(APOB):c.11374C>T (p.Pro3792Ser)	APOB (P3792S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 922421	NM_000384.3(APOB):c.11339C>T (p.Ala3780Val)	APOB (A3780V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 630248	NM_000384.3(APOB):c.11319G>A (p.Lys3773=)	APOB	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 922780	NM_000384.3(APOB):c.11309T>G (p.Ile3770Ser)	APOB (I3770S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 630249	NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)	APOB (I3768T)	Single nucleotide variant (missense variant)	APOB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 939638	NM_000384.3(APOB):c.11088T>G (p.Ile3696Met)	APOB (I3696M)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 922428	NM_000384.3(APOB):c.11087T>C (p.Ile3696Thr)	APOB (I3696T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1351331	NM_000384.3(APOB):c.11078C>A (p.Thr3693Asn)	APOB (T3693N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 1323325	NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter)	APOB (Y3680*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +2 more	GPathogenic/Likely pathogenic
Select item 630251	NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg)	APOB (K3673R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 922429	NM_000384.3(APOB):c.11010G>C (p.Arg3670Ser)	APOB (R3670S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 924039	NM_000384.3(APOB):c.10811C>A (p.Ala3604Glu)	APOB (A3604E)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 918347	NM_000384.3(APOB):c.10727T>G (p.Leu3576Arg)	APOB (L3576R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 440519	NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp)	APOB (G3575D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 431988	NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)	APOB (H3570Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 440520	NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)	APOB (T3567M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 477790	NM_000384.3(APOB):c.10571A>C (p.Lys3524Thr)	APOB (K3524T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 895221	NM_000384.3(APOB):c.10324C>A (p.Gln3442Lys)	APOB (Q3442K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GUncertain significance
Select item 684857	NM_000384.3(APOB):c.10314G>T (p.Met3438Ile)	APOB (M3438I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 630260	NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg)	APOB (Q3432R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 544075	NM_000384.3(APOB):c.10276G>A (p.Ala3426Thr)	APOB (A3426T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 1047390	NM_000384.3(APOB):c.10270T>C (p.Ser3424Pro)	APOB (S3424P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 523738	NM_000384.3(APOB):c.10262T>C (p.Met3421Thr)	APOB (M3421T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 1481875	NM_000384.3(APOB):c.10261A>G (p.Met3421Val)	APOB (M3421V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 434252	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB (T3413fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +4 more	GPathogenic/Likely pathogenic
Select item 438310	NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)	APOB (K3394N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GPathogenic/Likely pathogenic
Select item 74414	NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe)	APOB (S3342F)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 927811	NM_000384.3(APOB):c.9933A>G (p.Arg3311=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 629221	NM_000384.3(APOB):c.9815A>G (p.Tyr3272Cys)	APOB (Y3272C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 925138	NM_000384.3(APOB):c.9692A>G (p.Asp3231Gly)	APOB (D3231G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 548072	NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys)	APOB (N3211K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 918611	NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala)	APOB (T3165A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 334112	NM_000384.3(APOB):c.9491C>T (p.Thr3164Met)	APOB (T3164M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 918612	NM_000384.3(APOB):c.9467C>A (p.Thr3156Lys)	APOB (T3156K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 927742	NM_000384.3(APOB):c.9457T>C (p.Trp3153Arg)	APOB (W3153R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 630605	NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)	APOB (F3150L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 619615	NM_000384.3(APOB):c.9407G>A (p.Arg3136His)	APOB (R3136H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 924106	NM_000384.3(APOB):c.9322G>A (p.Glu3108Lys)	APOB (E3108K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 918614	NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser)	APOB (N3106S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 237753	NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys)	APOB (Y3074C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 17892	NM_000384.3(APOB):c.9200del (p.Lys3067fs)	APOB (K3067fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 544076	NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)	APOB (F3039fs)	Microsatellite (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GPathogenic/Likely pathogenic
Select item 548069	NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn)	APOB (T3032N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 656976	NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile)	APOB (N3026I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 477822	NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)	APOB (N2961S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 655327	NM_000384.3(APOB):c.8855G>T (p.Gly2952Val)	APOB (G2952V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 955715	NM_000384.3(APOB):c.8851G>A (p.Glu2951Lys)	APOB (E2951K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 924107	NM_000384.3(APOB):c.8840G>C (p.Ser2947Thr)	APOB (S2947T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 1048855	NM_000384.3(APOB):c.8794G>A (p.Ala2932Thr)	APOB (A2932T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 939639	NM_000384.3(APOB):c.8702C>G (p.Ser2901Cys)	APOB (S2901C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 548066	NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)	APOB (L2898P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 928183	NM_000384.3(APOB):c.8635A>T (p.Asn2879Tyr)	APOB (N2879Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 898332	NM_000384.3(APOB):c.8375C>G (p.Ser2792Cys)	APOB (S2792C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 924110	NM_000384.3(APOB):c.8299C>T (p.Pro2767Ser)	APOB (P2767S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 927971	NM_000384.3(APOB):c.8297C>T (p.Ser2766Phe)	APOB (S2766F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 924111	NM_000384.3(APOB):c.8258C>G (p.Pro2753Arg)	APOB (P2753R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 839603	NM_000384.3(APOB):c.8226G>T (p.Gln2742His)	APOB (Q2742H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 922594	NM_000384.3(APOB):c.8198T>C (p.Val2733Ala)	APOB (V2733A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 843095	NM_000384.3(APOB):c.8129A>T (p.Asp2710Val)	APOB (D2710V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 630976	NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe)	APOB (S2660F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 334123	NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro)	APOB (T2647P)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance

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