"Illumina Laboratory Services, Illumina"[submitter] AND "APOB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334056	NM_000384.3(APOB):c.*265G>A	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 334057	NM_000384.3(APOB):c.*229A>G	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Familial hypobetalipoproteinemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 334058	NM_000384.3(APOB):c.*207C>A	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 334059	NM_000384.3(APOB):c.*180G>T	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 334060	NM_000384.3(APOB):c.*179C>T	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334061	NM_000384.3(APOB):c.*171C>T	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 897862	NM_000384.3(APOB):c.*130A>T	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 334062	NM_000384.3(APOB):c.*117G>A	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 334063	NM_000384.3(APOB):c.*85T>C	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 899009	NM_000384.3(APOB):c.*31T>C	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Familial hypobetalipoproteinemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 334064	NM_000384.3(APOB):c.*11G>T	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 477801	NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 334065	NM_000384.3(APOB):c.13659G>T (p.Lys4553Asn)	APOB, APOB3'MAR (K4553N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 334066	NM_000384.3(APOB):c.13654A>G (p.Met4552Val)	APOB, APOB3'MAR (M4552V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 631843	NM_000384.3(APOB):c.13637_13638del (p.Thr4546fs)	APOB3'MAR, APOB (T4546fs)	Microsatellite (frameshift variant)	APOB-Related Disorders	GUncertain significance
Select item 334067	NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys)	APOB, APOB3'MAR (Y4534C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GUncertain significance
Select item 334068	NM_000384.3(APOB):c.13589C>T (p.Thr4530Ile)	APOB, APOB3'MAR (T4530I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 255978	NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)	APOB (T4484M)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 334069	NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)	APOB (I4482V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 128419	NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)	APOB (A4481T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 477800	NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn)	APOB (D4457N)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 334070	NM_000384.3(APOB):c.13302C>T (p.Ser4434=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 402373	NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)	APOB (S4430T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 627768	NM_000384.3(APOB):c.13191A>G (p.Thr4397=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 334071	NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)	APOB (G4395S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia +3 more	GConflicting classifications of pathogenicity
Select item 373587	NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)	APOB (S4392N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 334072	NM_000384.3(APOB):c.13102C>G (p.Gln4368Glu)	APOB (Q4368E)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 627769	NM_000384.3(APOB):c.13022T>A (p.Ile4341Asn)	APOB (I4341N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 490384	NM_000384.3(APOB):c.13020T>C (p.Tyr4340=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 128418	NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)	APOB (S4338N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 334073	NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys)	APOB (Y4328C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 894951	NM_000384.3(APOB):c.12976A>T (p.Ile4326Phe)	APOB (I4326F)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 237739	NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)	APOB (I4314V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 334074	NM_000384.3(APOB):c.12903C>T (p.Asp4301=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 255977	NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)	APOB (R4270T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GBenign
Select item 334075	NM_000384.3(APOB):c.12807T>C (p.Tyr4269=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 544116	NM_000384.3(APOB):c.12803T>C (p.Met4268Thr)	APOB (M4268T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 237738	NM_000384.3(APOB):c.12794T>C (p.Val4265Ala)	APOB (V4265A)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 544074	NM_000384.3(APOB):c.12739C>T (p.Gln4247Ter)	APOB (Q4247*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +4 more	GUncertain significance
Select item 255976	NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)	APOB (S4233T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 627659	NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr)	APOB (I4194T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 128417	NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)	APOB (E4181K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 544066	NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile)	APOB (T4179I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 334076	NM_000384.3(APOB):c.12444C>A (p.Ala4148=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 334077	NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp)	APOB (A4148D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 384812	NM_000384.3(APOB):c.12382G>A (p.Val4128Met)	APOB (V4128M)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 477798	NM_000384.3(APOB):c.12348T>C (p.Tyr4116=)	APOB	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 334078	NM_000384.3(APOB):c.12343G>T (p.Val4115Phe)	APOB (V4115F)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 412954	NM_000384.3(APOB):c.12318A>G (p.Arg4106=)	APOB	Single nucleotide variant (synonymous variant)	APOB-related condition +4 more	GConflicting classifications of pathogenicity
Select item 334079	NM_000384.3(APOB):c.12310C>A (p.Leu4104Met)	APOB (L4104M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 895011	NM_000384.3(APOB):c.12297A>G (p.Glu4099=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 74412	NM_000384.3(APOB):c.12252T>C (p.Tyr4084=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 334080	NM_000384.3(APOB):c.12219C>T (p.Asn4073=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 895012	NM_000384.3(APOB):c.12194G>C (p.Gly4065Ala)	APOB (G4065A)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 334081	NM_000384.3(APOB):c.12178G>C (p.Glu4060Gln)	APOB (E4060Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 334082	NM_000384.3(APOB):c.12137G>A (p.Arg4046Gln)	APOB (R4046Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 896451	NM_000384.3(APOB):c.12111C>T (p.Thr4037=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 334083	NM_000384.3(APOB):c.12088-23dup	APOB	Duplication (intron variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 334084	NM_000384.3(APOB):c.12088-14T>C	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 896452	NM_000384.3(APOB):c.12063A>G (p.Lys4021=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 896453	NM_000384.3(APOB):c.12057T>A (p.Phe4019Leu)	APOB (F4019L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 695320	NM_000384.3(APOB):c.12051C>T (p.Asp4017=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 334085	NM_000384.3(APOB):c.12024C>T (p.Thr4008=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 390202	NM_000384.3(APOB):c.12016G>A (p.Val4006Ile)	APOB (V4006I)	Single nucleotide variant (missense variant)	not specified +5 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 334086	NM_000384.3(APOB):c.11942C>T (p.Pro3981Leu)	APOB (P3981L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 334087	NM_000384.3(APOB):c.11929A>C (p.Asn3977His)	APOB (N3977H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 334088	NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)	APOB (E3971K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 255975	NM_000384.3(APOB):c.11904-7C>T	APOB	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 334089	NM_000384.3(APOB):c.11904-15T>A	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GConflicting classifications of pathogenicity
Select item 334090	NM_000384.3(APOB):c.11855G>A (p.Arg3952His)	APOB (R3952H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 334091	NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala)	APOB (T3945A)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 334092	NM_000384.3(APOB):c.11820G>T (p.Thr3940=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 334093	NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp)	APOB (G3939D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 255974	NM_000384.3(APOB):c.11808C>T (p.Ile3936=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 619612	NM_000384.3(APOB):c.11789-8C>T	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 402379	NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)	APOB (V3921I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 334094	NM_000384.3(APOB):c.11585T>C (p.Ile3862Thr)	APOB (I3862T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 334095	NM_000384.3(APOB):c.11571G>A (p.Val3857=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 334096	NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)	APOB (I3855V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia +2 more	GUncertain significance
Select item 898147	NM_000384.3(APOB):c.11561C>T (p.Thr3854Ile)	APOB (T3854I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 630246	NM_000384.3(APOB):c.11542G>A (p.Ala3848Thr)	APOB (A3848T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 334097	NM_000384.3(APOB):c.11541C>T (p.Ile3847=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 237735	NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)	APOB (T3826M)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 334098	NM_000384.3(APOB):c.11466G>A (p.Val3822=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 334099	NM_000384.3(APOB):c.11443G>A (p.Val3815Met)	APOB (V3815M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 237734	NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)	APOB (S3801T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 895150	NM_000384.3(APOB):c.11374C>T (p.Pro3792Ser)	APOB (P3792S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 334100	NM_000384.3(APOB):c.11362G>A (p.Glu3788Lys)	APOB (E3788K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 548034	NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe)	APOB (L3786F)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 334101	NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile)	APOB (T3785I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 334102	NM_000384.3(APOB):c.11312A>T (p.Tyr3771Phe)	APOB (Y3771F)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 630249	NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)	APOB (I3768T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 334103	NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)	APOB (F3753L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 255973	NM_000384.3(APOB):c.11244G>A (p.Thr3748=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 334104	NM_000384.3(APOB):c.10929T>C (p.Ser3643=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 128416	NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)	APOB (R3638Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 334105	NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)	APOB (N3628Y)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 440518	NM_000384.3(APOB):c.10739A>G (p.Asn3580Ser)	APOB (N3580S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 255972	NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	APOB	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign

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