338[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +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	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	HS1BP3, APOB +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)	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 544130	NC_000002.12:g.(?_21001710)_(21035728_?)del	APOB, APOB3'MAR	Deletion	Hypercholesterolemia, autosomal dominant, type B +1 more	GPathogenic
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 1956322	NM_000384.3(APOB):c.13683C>T (p.Ile4561=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 477801	NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 921025	NM_000384.3(APOB):c.13672G>A (p.Glu4558Lys)	APOB, APOB3'MAR (E4558K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +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=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +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)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 1441589	NM_000384.3(APOB):c.13653C>A (p.Tyr4551Ter)	APOB3'MAR, APOB (Y4551*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +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)	Hypercholesterolemia, autosomal dominant, type B +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 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)	APOB3'MAR, APOB (T4546fs)	Microsatellite (frameshift variant)	APOB-Related Disorders	GUncertain significance
Select item 1770877	NM_000384.3(APOB):c.13632A>G (p.Ser4544=)	APOB3'MAR, APOB	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)	APOB3'MAR, APOB (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)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2140081	NM_000384.3(APOB):c.13616T>C (p.Leu4539Pro)	APOB, APOB3'MAR (L4539P)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +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)	Familial hypobetalipoproteinemia 1 +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)	Familial hypobetalipoproteinemia 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
Select item 1714145	NM_000384.3(APOB):c.13580A>T (p.Asn4527Ile)	APOB (N4527I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 1770720	NM_000384.3(APOB):c.13576C>T (p.Gln4526Ter)	APOB (Q4526*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1311486	NM_000384.3(APOB):c.13573A>T (p.Ile4525Phe)	APOB (I4525F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034707	NM_000384.3(APOB):c.13567C>T (p.Leu4523=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 619778	NM_000384.3(APOB):c.13566C>T (p.Asp4522=)	APOB	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 630176	NM_000384.3(APOB):c.13564G>A (p.Asp4522Asn)	APOB (D4522N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770675	NM_000384.3(APOB):c.13559T>C (p.Leu4520Ser)	APOB (L4520S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1130056	NM_000384.3(APOB):c.13558T>C (p.Leu4520=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 431504	NM_000384.3(APOB):c.13555A>G (p.Arg4519Gly)	APOB (R4519G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 627679	NM_000384.3(APOB):c.13550C>T (p.Ser4517Phe)	APOB (S4517F)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GBenign/Likely benign
Select item 2681872	NM_000384.3(APOB):c.13538T>G (p.Phe4513Cys)	APOB (F4513C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681871	NM_000384.3(APOB):c.13530T>C (p.Tyr4510=)	APOB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2925857	NM_000384.3(APOB):c.13523A>G (p.Asp4508Gly)	APOB (D4508G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1770604	NM_000384.3(APOB):c.13518C>A (p.Leu4506=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2945646	NM_000384.3(APOB):c.13515A>G (p.Gln4505=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 918640	NM_000384.3(APOB):c.13500A>G (p.Gln4500=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2929647	NM_000384.3(APOB):c.13497G>T (p.Leu4499=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1770536	NM_000384.3(APOB):c.13491T>C (p.Tyr4497=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1026267	NM_000384.3(APOB):c.13489T>G (p.Tyr4497Asp)	APOB (Y4497D)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 922613	NM_000384.3(APOB):c.13489T>C (p.Tyr4497His)	APOB (Y4497H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 630177	NM_000384.3(APOB):c.13488A>G (p.Arg4496=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GBenign/Likely benign
Select item 2934666	NM_000384.3(APOB):c.13486A>G (p.Arg4496Gly)	APOB (R4496G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 265896	NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)	APOB (Q4494del)	Microsatellite (inframe_deletion)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 1770488	NM_000384.3(APOB):c.13476C>T (p.His4492=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770472	NM_000384.3(APOB):c.13467T>G (p.Ser4489=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1770443	NM_000384.3(APOB):c.13454A>C (p.Lys4485Thr)	APOB (K4485T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 412951	NM_000384.3(APOB):c.13452G>A (p.Thr4484=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
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 544108	NM_000384.3(APOB):c.13449G>A (p.Ala4483=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 237740	NM_000384.3(APOB):c.13448C>T (p.Ala4483Val)	APOB (A4483V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2929462	NM_000384.3(APOB):c.13447G>T (p.Ala4483Ser)	APOB (A4483S)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1770415	NM_000384.3(APOB):c.13446T>G (p.Ile4482Met)	APOB (I4482M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 927120	NM_000384.3(APOB):c.13445T>C (p.Ile4482Thr)	APOB (I4482T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 334069	NM_000384.3(APOB):c.13444A>G (p.Ile4482Val)	APOB (I4482V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2934938	NM_000384.3(APOB):c.13443C>A (p.Ala4481=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
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 1591311	NM_000384.3(APOB):c.13440G>A (p.Gln4480=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 630236	NM_000384.3(APOB):c.13422G>C (p.Gln4474His)	APOB (Q4474H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 2942380	NM_000384.3(APOB):c.13420C>A (p.Gln4474Lys)	APOB (Q4474K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2932252	NM_000384.3(APOB):c.13420C>G (p.Gln4474Glu)	APOB (Q4474E)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 700288	NM_000384.3(APOB):c.13416T>C (p.Thr4472=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 2451314	NM_000384.3(APOB):c.13414A>G (p.Thr4472Ala)	APOB (T4472A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2636843	NM_000384.3(APOB):c.13399G>A (p.Ala4467Thr)	APOB (A4467T)	Single nucleotide variant (missense variant)	APOB-related condition	GUncertain significance
Select item 1685525	NM_000384.3(APOB):c.13392_13393del (p.Lys4465fs)	APOB (K4465fs)	Microsatellite (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B	GPathogenic

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