"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 237739	NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)	APOB (I4314V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 237738	NM_000384.3(APOB):c.12794T>C (p.Val4265Ala)	APOB (V4265A)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 384812	NM_000384.3(APOB):c.12382G>A (p.Val4128Met)	APOB (V4128M)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 74412	NM_000384.3(APOB):c.12252T>C (p.Tyr4084=)	APOB	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 695320	NM_000384.3(APOB):c.12051C>T (p.Asp4017=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 237734	NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)	APOB (S3801T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 630247	NM_000384.3(APOB):c.11391A>G (p.Leu3797=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 926986	NM_000384.3(APOB):c.11108G>A (p.Arg3703His)	APOB (R3703H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 495856	NM_000384.3(APOB):c.10740C>T (p.Asn3580=)	APOB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 265890	NM_000384.3(APOB):c.10131G>A (p.Leu3377=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 490405	NM_000384.3(APOB):c.9855C>T (p.Ile3285=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 695723	NM_000384.3(APOB):c.9501A>G (p.Gln3167=)	APOB	Single nucleotide variant (synonymous variant)	APOB-related disorder +3 more	GLikely benign
Select item 334113	NM_000384.3(APOB):c.9477G>A (p.Lys3159=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 695321	NM_000384.3(APOB):c.9356G>A (p.Gly3119Glu)	APOB (G3119E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 334114	NM_000384.3(APOB):c.9294C>T (p.Tyr3098=)	APOB	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 237752	NM_000384.3(APOB):c.9105T>C (p.Asn3035=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 334117	NM_000384.3(APOB):c.8912A>C (p.Asn2971Thr)	APOB (N2971T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 924098	NM_000384.3(APOB):c.8645C>T (p.Thr2882Ile)	APOB (T2882I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 402376	NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)	APOB (I2850M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 477820	NM_000384.3(APOB):c.8469T>C (p.Ala2823=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 255989	NM_000384.3(APOB):c.7998A>G (p.Val2666=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GLikely benign
Select item 189300	NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)	APOB (E2566K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 334126	NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)	APOB (Q2529K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 218448	NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)	APOB (S2429T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 490397	NM_000384.3(APOB):c.6018C>T (p.Gly2006=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GBenign/Likely benign
Select item 412956	NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)	APOB (S1613T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 477809	NM_000384.3(APOB):c.4825T>C (p.Leu1609=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 334146	NM_000384.3(APOB):c.4163G>A (p.Arg1388His)	APOB (R1388H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 265886	NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys)	APOB (Y1247C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 390630	NM_000384.3(APOB):c.3507T>C (p.Tyr1169=)	APOB	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 237744	NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)	APOB (P1143S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +8 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 255982	NM_000384.3(APOB):c.3122-6G>A	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 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 +3 more	GConflicting classifications of pathogenicity
Select item 402372	NM_000384.3(APOB):c.2068-4T>A	APOB	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 924674	NM_000384.3(APOB):c.1975C>T (p.Leu659Phe)	APOB (L659F)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +1 more	GUncertain significance
Select item 548068	NM_000384.3(APOB):c.900T>C (p.Gly300=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 925527	NM_000384.3(APOB):c.571A>G (p.Thr191Ala)	APOB (T191A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
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

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Items: 41