APOB[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1714145	NM_000384.3(APOB):c.13580A>T (p.Asn4527Ile)	APOB (N4527I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +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 3343842	NM_000384.3(APOB):c.13571C>T (p.Ser4524Phe)	APOB (S4524F)	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)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 619778	NM_000384.3(APOB):c.13566C>T (p.Asp4522=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +2 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)	Cardiovascular phenotype +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)	Familial hypobetalipoproteinemia 1 +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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 922613	NM_000384.3(APOB):c.13489T>C (p.Tyr4497His)	APOB (Y4497H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 630177	NM_000384.3(APOB):c.13488A>G (p.Arg4496=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 3339551	NM_000384.3(APOB):c.13477dup (p.Gln4493fs)	APOB (Q4493fs)	Duplication (frameshift variant)	not specified	GUncertain significance
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)	Familial hypobetalipoproteinemia 1 +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)	Familial hypobetalipoproteinemia 1 +4 more	GLikely benign
Select item 255978	NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)	APOB (T4484M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 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 +2 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)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
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 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)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 1591311	NM_000384.3(APOB):c.13440G>A (p.Gln4480=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 630236	NM_000384.3(APOB):c.13422G>C (p.Gln4474His)	APOB (Q4474H)	Single nucleotide variant (missense variant)	not provided +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)	Hypercholesterolemia, autosomal dominant, type B +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)	Cardiovascular phenotype +2 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 disorder	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
Select item 3307629	NM_000384.3(APOB):c.13381A>G (p.Lys4461Glu)	APOB (K4461E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770259	NM_000384.3(APOB):c.13377T>C (p.Asp4459=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 477800	NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn)	APOB (D4457N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2926340	NM_000384.3(APOB):c.13368C>T (p.Thr4456=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 515632	NM_000384.3(APOB):c.13368C>A (p.Thr4456=)	APOB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3127901	NM_000384.3(APOB):c.13355T>C (p.Leu4452Pro)	APOB (L4452P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2007407	NM_000384.3(APOB):c.13347G>A (p.Gln4449=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 1416726	NM_000384.3(APOB):c.13343T>A (p.Ile4448Asn)	APOB (I4448N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GBenign
Select item 1770192	NM_000384.3(APOB):c.13334A>C (p.His4445Pro)	APOB (H4445P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451308	NM_000384.3(APOB):c.13332G>C (p.Leu4444=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 3307444	NM_000384.3(APOB):c.13307T>A (p.Leu4436His)	APOB (L4436H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770130	NM_000384.3(APOB):c.13305A>G (p.Gln4435=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 334070	NM_000384.3(APOB):c.13302C>T (p.Ser4434=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 2953583	NM_000384.3(APOB):c.13299T>G (p.Thr4433=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 1770072	NM_000384.3(APOB):c.13293del (p.Phe4432fs)	APOB (F4432fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770071	NM_000384.3(APOB):c.13293C>A (p.Asn4431Lys)	APOB (N4431K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 402373	NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)	APOB (S4430T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 922614	NM_000384.3(APOB):c.13278T>C (p.Ile4426=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2681868	NM_000384.3(APOB):c.13277T>C (p.Ile4426Thr)	APOB (I4426T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1770022	NM_000384.3(APOB):c.13275T>C (p.Tyr4425=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2922221	NM_000384.3(APOB):c.13269T>C (p.Ser4423=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 2080508	NM_000384.3(APOB):c.13268C>G (p.Ser4423Cys)	APOB (S4423C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1769980	NM_000384.3(APOB):c.13257G>A (p.Lys4419=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2451348	NM_000384.3(APOB):c.13245A>G (p.Leu4415=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2451349	NM_000384.3(APOB):c.13243T>C (p.Leu4415=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 920520	NM_000384.3(APOB):c.13238del (p.Asn4413fs)	APOB (N4413fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 1352577	NM_000384.3(APOB):c.13231A>C (p.Ile4411Leu)	APOB (I4411L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 1059185	NM_000384.3(APOB):c.13226G>C (p.Ser4409Thr)	APOB (S4409T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 440505	NM_000384.3(APOB):c.13220T>C (p.Ile4407Thr)	APOB (I4407T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1998548	NM_000384.3(APOB):c.13210G>A (p.Glu4404Lys)	APOB (E4404K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GUncertain significance
Select item 1081567	NM_000384.3(APOB):c.13209T>C (p.Leu4403=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2928124	NM_000384.3(APOB):c.13203T>C (p.Tyr4401=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +1 more	GLikely benign
Select item 440506	NM_000384.3(APOB):c.13196A>C (p.Lys4399Thr)	APOB (K4399T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 627768	NM_000384.3(APOB):c.13191A>G (p.Thr4397=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 334071	NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)	APOB (G4395S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 920522	NM_000384.3(APOB):c.13182T>C (p.Val4394=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 920523	NM_000384.3(APOB):c.13178T>C (p.Ile4393Thr)	APOB (I4393T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 2926448	NM_000384.3(APOB):c.13177A>G (p.Ile4393Val)	APOB (I4393V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 373587	NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn)	APOB (S4392N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 440507	NM_000384.3(APOB):c.13168G>C (p.Asp4390His)	APOB (D4390H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2141802	NM_000384.3(APOB):c.13161A>G (p.Glu4387=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 369883	NM_000384.3(APOB):c.13160A>T (p.Glu4387Val)	APOB (E4387V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 265895	NM_000384.3(APOB):c.13158del (p.Glu4387fs)	APOB (E4387fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1769770	NM_000384.3(APOB):c.13156G>A (p.Glu4386Lys)	APOB (E4386K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 402374	NM_000384.3(APOB):c.13154G>A (p.Arg4385His)	APOB (R4385H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 218441	NM_000384.3(APOB):c.13153C>T (p.Arg4385Cys)	APOB (R4385C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 440508	NM_000384.3(APOB):c.13151T>C (p.Leu4384Pro)	APOB (L4384P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 920525	NM_000384.3(APOB):c.13146G>C (p.Met4382Ile)	APOB (M4382I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1353459	NM_000384.3(APOB):c.13137_13139dup (p.Tyr4380Ter)	APOB (Y4380*)	Duplication (nonsense)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2921641	NM_000384.3(APOB):c.13138T>C (p.Tyr4380His)	APOB (Y4380H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity

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