"Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Ge - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 440506	NM_000384.3(APOB):c.13196A>C (p.Lys4399Thr)	APOB (K4399T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 440507	NM_000384.3(APOB):c.13168G>C (p.Asp4390His)	APOB (D4390H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 440508	NM_000384.3(APOB):c.13151T>C (p.Leu4384Pro)	APOB (L4384P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440509	NM_000384.3(APOB):c.13135C>T (p.Gln4379Ter)	APOB (Q4379*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440510	NM_000384.3(APOB):c.13129_13130del (p.Ile4377fs)	APOB (I4377fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440511	NM_000384.3(APOB):c.13126C>T (p.Gln4376Ter)	APOB (Q4376*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 440512	NM_000384.3(APOB):c.13114C>T (p.Gln4372Ter)	APOB (Q4372*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440513	NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)	APOB (Y4343fs)	Microsatellite (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +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 +5 more	GBenign
Select item 440514	NM_000384.3(APOB):c.11854C>T (p.Arg3952Cys)	APOB (R3952C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +1 more	GLikely benign
Select item 128416	NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)	APOB (R3638Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 440515	NM_000384.3(APOB):c.10808A>G (p.His3603Arg)	APOB (H3603R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GLikely benign
Select item 369881	NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)	APOB (W3594R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 440516	NM_000384.3(APOB):c.10768G>A (p.Glu3590Lys)	APOB (E3590K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440517	NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)	APOB (N3580K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 440518	NM_000384.3(APOB):c.10739A>G (p.Asn3580Ser)	APOB (N3580S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 440519	NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp)	APOB (G3575D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 431988	NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)	APOB (H3570Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 440520	NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)	APOB (T3567M)	Single nucleotide variant (missense variant)	not provided +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)	not specified +5 more	GUncertain significance
Select item 440521	NM_000384.3(APOB):c.10657G>A (p.Glu3553Lys)	APOB (E3553K)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 440522	NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter)	APOB (E3545*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia	GPathogenic
Select item 440523	NM_000384.3(APOB):c.10580G>T (p.Arg3527Leu)	APOB (R3527L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	APOB-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 40223	NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	APOB (R3527W)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 237733	NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro)	APOB (R3507P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 438310	NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)	APOB (K3394N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GPathogenic/Likely pathogenic
Select item 69508	NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)	APOB (R3059C)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 440524	NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter)	APOB (Y1746*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia	GPathogenic
Select item 440525	NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter)	APOB (Y1363*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia	GPathogenic
Select item 440526	NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer)	APOB	Indel (nonsense)	Familial hypobetalipoproteinemia	GPathogenic
Select item 218443	NM_000384.3(APOB):c.3337G>C (p.Asp1113His)	APOB (D1113H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 440528	NM_000384.3(APOB):c.2786dup (p.Arg931fs)	APOB (R931fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 440527	NM_000384.3(APOB):c.2786del (p.Pro929fs)	APOB (P929fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia	GPathogenic
Select item 440529	NM_000384.3(APOB):c.2297_2298del (p.Lys766fs)	APOB (K766fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440530	NM_000384.3(APOB):c.1595G>A (p.Arg532Gln)	APOB (R532Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 255979	NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)	APOB (R532W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity

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Items: 40