APOB3'MAR[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	APOB, APOB-ICR +131 more	Copy number loss	See cases	GPathogenic
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)	Familial hypobetalipoproteinemia 1 +2 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)	Familial hypobetalipoproteinemia 1 +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 544130	NC_000002.12:g.(?_21001710)_(21035728_?)del	APOB, APOB3'MAR	Deletion	Familial hypobetalipoproteinemia 1 +1 more	GPathogenic
Select item 334064	NM_000384.3(APOB):c.*11G>T	APOB, APOB3'MAR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1956322	NM_000384.3(APOB):c.13683C>T (p.Ile4561=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
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 2923518	NM_000384.3(APOB):c.13679C>A (p.Thr4560Asn)	APOB, APOB3'MAR (T4560N)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 924647	NM_000384.3(APOB):c.13678A>G (p.Thr4560Ala)	APOB, APOB3'MAR (T4560A)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 3127902	NM_000384.3(APOB):c.13675C>T (p.Leu4559Phe)	APOB, APOB3'MAR (L4559F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
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 919908	NM_000384.3(APOB):c.13670G>C (p.Gly4557Ala)	APOB, APOB3'MAR (G4557A)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 1154425	NM_000384.3(APOB):c.13665T>C (p.Ala4555=)	APOB3'MAR, APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 2451328	NM_000384.3(APOB):c.13663G>T (p.Ala4555Ser)	APOB, APOB3'MAR (A4555S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1441589	NM_000384.3(APOB):c.13653C>A (p.Tyr4551Ter)	APOB, APOB3'MAR (Y4551*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 630601	NM_000384.3(APOB):c.13651T>C (p.Tyr4551His)	APOB, APOB3'MAR (Y4551H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 925318	NM_000384.3(APOB):c.13648C>A (p.Pro4550Thr)	APOB, APOB3'MAR (P4550T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 3307610	NM_000384.3(APOB):c.13647C>G (p.Asn4549Lys)	APOB, APOB3'MAR (N4549K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451292	NM_000384.3(APOB):c.13647C>A (p.Asn4549Lys)	APOB, APOB3'MAR (N4549K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 924204	NM_000384.3(APOB):c.13642A>G (p.Met4548Val)	APOB, APOB3'MAR (M4548V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 924978	NM_000384.3(APOB):c.13638A>C (p.Thr4546=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 631843	NM_000384.3(APOB):c.13637_13638del (p.Thr4546fs)	APOB, APOB3'MAR (T4546fs)	Microsatellite (frameshift variant)	APOB-related disorder	GUncertain significance
Select item 1770877	NM_000384.3(APOB):c.13632A>G (p.Ser4544=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2950563	NM_000384.3(APOB):c.13627C>T (p.Gln4543Ter)	APOB, APOB3'MAR (Q4543*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 1770852	NM_000384.3(APOB):c.13623G>C (p.Lys4541Asn)	APOB, APOB3'MAR (K4541N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1498988	NM_000384.3(APOB):c.13621A>C (p.Lys4541Gln)	APOB, APOB3'MAR (K4541Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2140081	NM_000384.3(APOB):c.13616T>C (p.Leu4539Pro)	APOB, APOB3'MAR (L4539P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 1770838	NM_000384.3(APOB):c.13615C>A (p.Leu4539Met)	APOB, APOB3'MAR (L4539M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 546037	NM_000384.3(APOB):c.13613T>G (p.Leu4538Ter)	APOB, APOB3'MAR (L4538*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1503285	NM_000384.3(APOB):c.13608G>A (p.Thr4536=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 925668	NM_000384.3(APOB):c.13608G>T (p.Thr4536=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 1042701	NM_000384.3(APOB):c.13607C>T (p.Thr4536Met)	APOB, APOB3'MAR (T4536M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 921145	NM_000384.3(APOB):c.13600T>A (p.Tyr4534Asn)	APOB, APOB3'MAR (Y4534N)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2079357	NM_000384.3(APOB):c.13594C>T (p.Leu4532=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1770752	NM_000384.3(APOB):c.13590A>G (p.Thr4530=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 1770732	NM_000384.3(APOB):c.13583A>G (p.Tyr4528Cys)	APOB, APOB3'MAR (Y4528C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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Items: 57