"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "APOB"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682733	NM_000384.3(APOB):c.12515T>C (p.Phe4172Ser)	APOB (F4172S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1756594	NM_000384.3(APOB):c.12358A>T (p.Ile4120Phe)	APOB (I4120F)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 2938304	NM_000384.3(APOB):c.12126G>T (p.Glu4042Asp)	APOB (E4042D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1704963	NM_000384.3(APOB):c.11330C>A (p.Ser3777Ter)	APOB (S3777*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 630250	NM_000384.3(APOB):c.11233G>A (p.Val3745Ile)	APOB (V3745I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 431988	NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)	APOB (H3570Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 265892	NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)	APOB (Y3560C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 17897	NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)	APOB (R3558C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +9 more	GPathogenic/Likely pathogenic
Select item 40223	NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	APOB (R3527W)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +7 more	GPathogenic/Likely pathogenic
Select item 1693801	NM_000384.3(APOB):c.9593G>C (p.Ser3198Thr)	APOB (S3198T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 918614	NM_000384.3(APOB):c.9317A>G (p.Asn3106Ser)	APOB (N3106S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 548066	NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)	APOB (L2898P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 927686	NM_000384.3(APOB):c.8608A>G (p.Ser2870Gly)	APOB (S2870G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1163199	NM_000384.3(APOB):c.8195A>T (p.Gln2732Leu)	APOB (Q2732L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1001406	NM_000384.3(APOB):c.7577T>C (p.Met2526Thr)	APOB (M2526T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 630283	NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys)	APOB (Q2353K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3308072	NM_000384.3(APOB):c.6711T>G (p.Asp2237Glu)	APOB (D2237E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2682734	NM_000384.3(APOB):c.5954C>T (p.Thr1985Ile)	APOB (T1985I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 189304	NM_000384.3(APOB):c.5066G>A (p.Arg1689His)	APOB (R1689H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 857100	NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)	APOB (I1652L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 450695	NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)	APOB (T1511I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1163200	NM_000384.3(APOB):c.4418C>A (p.Ser1473Tyr)	APOB (S1473Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 431497	NM_000384.3(APOB):c.4265G>A (p.Cys1422Tyr)	APOB (C1422Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GUncertain significance
Select item 918926	NM_000384.3(APOB):c.2864C>T (p.Pro955Leu)	APOB (P955L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1163201	NM_000384.3(APOB):c.2676G>A (p.Pro892=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1163202	NM_000384.3(APOB):c.2569G>A (p.Gly857Arg)	APOB (G857R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3381149	NM_000384.3(APOB):c.2431C>T (p.Gln811Ter)	APOB (Q811*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 697731	NM_000384.3(APOB):c.2411G>A (p.Arg804His)	APOB (R804H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1163203	NM_000384.3(APOB):c.1795A>G (p.Asn599Asp)	APOB (N599D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420652	NM_000384.3(APOB):c.1753C>A (p.Gln585Lys)	APOB (Q585K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 237741	NM_000384.3(APOB):c.1672C>T (p.Arg558Ter)	APOB (R558*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 2068163	NM_000384.3(APOB):c.1124+3A>G	APOB	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 630646	NM_000384.3(APOB):c.1076G>C (p.Ser359Thr)	APOB (S359T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 544129	NM_000384.3(APOB):c.895T>G (p.Phe299Val)	APOB (F299V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 252484	NM_000384.3(APOB):c.574G>A (p.Val192Ile)	APOB (V192I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 847160	NM_000384.3(APOB):c.26TGGCGCTGC[3] (p.9LAL[3])	APOB, LOC106560211	Microsatellite (inframe_insertion)	not provided +3 more	GUncertain significance
Select item 897863	NM_000384.3(APOB):c.35T>C (p.Leu12Pro)	APOB, LOC106560211 (L12P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 38