"GENinCode PLC"[submitter] AND "APOB"[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 255978	NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)	APOB (T4484M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 128419	NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)	APOB (A4481T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 128418	NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)	APOB (S4338N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign
Select item 237739	NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)	APOB (I4314V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 255977	NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)	APOB (R4270T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign
Select item 544116	NM_000384.3(APOB):c.12803T>C (p.Met4268Thr)	APOB (M4268T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 252479	NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys)	APOB (E4256K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 128417	NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)	APOB (E4181K)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 384812	NM_000384.3(APOB):c.12382G>A (p.Val4128Met)	APOB (V4128M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 74412	NM_000384.3(APOB):c.12252T>C (p.Tyr4084=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +5 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 255975	NM_000384.3(APOB):c.11904-7C>T	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 255974	NM_000384.3(APOB):c.11808C>T (p.Ile3936=)	APOB	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
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 402379	NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)	APOB (V3921I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 334103	NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu)	APOB (F3753L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 128416	NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)	APOB (R3638Q)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 369881	NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)	APOB (W3594R)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 255972	NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +6 more	GBenign/Likely benign
Select item 265890	NM_000384.3(APOB):c.10131G>A (p.Leu3377=)	APOB	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 369882	NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)	APOB (A3354G)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 255990	NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)	APOB (S3294P)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 218452	NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)	APOB (S3279G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 334113	NM_000384.3(APOB):c.9477G>A (p.Lys3159=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 334116	NM_000384.3(APOB):c.9004C>T (p.Leu3002=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 334118	NM_000384.3(APOB):c.8889C>T (p.Ile2963=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 477820	NM_000384.3(APOB):c.8469T>C (p.Ala2823=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 218451	NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)	APOB (P2821L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 218450	NM_000384.3(APOB):c.8353A>C (p.Asn2785His)	APOB (N2785H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 128426	NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)	APOB (P2739L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
Select item 237751	NM_000384.3(APOB):c.8148C>T (p.Ile2716=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 477818	NM_000384.3(APOB):c.7619G>T (p.Gly2540Val)	APOB (G2540V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 128425	NM_000384.3(APOB):c.7545C>T (p.Thr2515=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign
Select item 334128	NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp)	APOB (E2414D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 1169879	NM_000384.3(APOB):c.6936C>T (p.Asp2312=)	APOB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 252485	NM_000384.3(APOB):c.6895G>C (p.Asp2299His)	APOB (D2299H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 477815	NM_000384.3(APOB):c.6765G>A (p.Lys2255=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 180280	NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	APOB (D2213del)	Microsatellite (inframe_deletion)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 255985	NM_000384.3(APOB):c.6513A>G (p.Leu2171=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 477813	NM_000384.3(APOB):c.6261C>A (p.Thr2087=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 128423	NM_000384.3(APOB):c.5768A>G (p.His1923Arg)	APOB (H1923R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
Select item 218447	NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)	APOB (N1914S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
Select item 334146	NM_000384.3(APOB):c.4163G>A (p.Arg1388His)	APOB (R1388H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 3250491	NM_000384.3(APOB):c.3842+23C>T	APOB	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GBenign
Select item 255984	NM_000384.3(APOB):c.3509-10G>A	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 237744	NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)	APOB (P1143S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +7 more	GConflicting classifications of pathogenicity
Select item 334155	NM_000384.3(APOB):c.3426G>A (p.Ser1142=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 281142	NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	APOB (R1128H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +8 more	GConflicting classifications of pathogenicity
Select item 544118	NM_000384.3(APOB):c.3150A>G (p.Thr1050=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GBenign/Likely benign
Select item 431492	NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)	APOB (P955S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 334164	NM_000384.3(APOB):c.2823A>G (p.Thr941=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 390496	NM_000384.3(APOB):c.2817-19T>G	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GBenign/Likely benign
Select item 255981	NM_000384.3(APOB):c.2706C>T (p.Asn902=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 255980	NM_000384.3(APOB):c.2604+15G>C	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 544120	NM_000384.3(APOB):c.2295G>A (p.Leu765=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 334167	NM_000384.3(APOB):c.2244+3G>A	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 218442	NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)	APOB (T741N)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 128421	NM_000384.3(APOB):c.2188G>A (p.Val730Ile)	APOB (V730I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 128420	NM_000384.3(APOB):c.1853C>T (p.Ala618Val)	APOB (A618V)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 334171	NM_000384.3(APOB):c.1785C>G (p.Ser595=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 199684	NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)	APOB (P554L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 255979	NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)	APOB (R532W)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 334173	NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)	APOB (I408T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 3250492	NM_000384.3(APOB):c.905-23C>T	APOB	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GBenign
Select item 334176	NM_000384.3(APOB):c.904+11C>G	APOB	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 412948	NM_000384.3(APOB):c.751G>A (p.Ala251Thr)	APOB (A251T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 334179	NM_000384.3(APOB):c.607A>G (p.Ile203Val)	APOB (I203V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 235263	NM_000384.3(APOB):c.606A>T (p.Glu202Asp)	APOB (E202D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 334181	NM_000384.3(APOB):c.581C>T (p.Thr194Met)	APOB (T194M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 334182	NM_000384.3(APOB):c.538-9C>T	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 128422	NM_000384.3(APOB):c.293C>T (p.Thr98Ile)	APOB (T98I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
Select item 334189	NM_000384.3(APOB):c.129G>C (p.Ala43=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GBenign
Select item 3250493	NM_000384.3(APOB):c.121+22C>A	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GBenign
Select item 426250	NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup)	APOB, LOC106560211	Microsatellite (inframe_insertion)	Familial hypercholesterolemia +4 more	GBenign/Likely benign
Select item 1168150	NM_000384.3(APOB):c.49CTG[5] (p.Leu22del)	LOC106560211, APOB (L22del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GBenign
Select item 255983	NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])	APOB, LOC106560211	Microsatellite (inframe_deletion)	not specified +6 more	GBenign/Likely benign
Select item 899010	NM_000384.3(APOB):c.-79T>C	APOB, LOC106560211	Single nucleotide variant (5 prime UTR variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 265871	NM_000384.3(APOB):c.-115C>G	APOB, LOC106560211	Single nucleotide variant (5 prime UTR variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 3250494	NM_000384.2(APOB):c.-277C>T	APOB, LOC106560211	Single nucleotide variant	Familial hypercholesterolemia	GBenign
Select item 3250495	NM_000384.2(APOB):c.-393T>C	APOB, LOC106560211	Single nucleotide variant	Familial hypercholesterolemia	GBenign
Select item 3250496	NM_000384.2(APOB):c.-430C>A	APOB, LOC106560211	Single nucleotide variant	Familial hypercholesterolemia	GBenign
Select item 3250497	NM_000384.2(APOB):c.-644C>T	APOB, LOC106560211	Single nucleotide variant	Familial hypercholesterolemia	GBenign
Select item 3250498	NM_000384.2(APOB):c.-965A>G	APOB, LOC106560211	Single nucleotide variant	Familial hypercholesterolemia	GBenign

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Items: 87