"Color Diagnostics, LLC DBA Color Health"[submitter] AND "APOB"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 477801	NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
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 hypercholesterolemia +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)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 630601	NM_000384.3(APOB):c.13651T>C (p.Tyr4551His)	APOB, APOB3'MAR (Y4551H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +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 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)	Hypercholesterolemia, autosomal dominant, type B +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 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 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 128419	NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)	APOB (A4481T)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 490385	NM_000384.3(APOB):c.13095C>T (p.Asn4365=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 128418	NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)	APOB (S4338N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign
Select item 237739	NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)	APOB (I4314V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 255977	NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)	APOB (R4270T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GBenign
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 128417	NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)	APOB (E4181K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 384812	NM_000384.3(APOB):c.12382G>A (p.Val4128Met)	APOB (V4128M)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 490382	NM_000384.3(APOB):c.12088-13del	APOB	Deletion (intron variant)	not provided +3 more	GBenign
Select item 237735	NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)	APOB (T3826M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 237734	NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)	APOB (S3801T)	Single nucleotide variant (missense variant)	APOB-related disorder +5 more	GConflicting classifications of pathogenicity
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 265893	NM_000384.3(APOB):c.10701G>A (p.Thr3567=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 2773803	NM_000384.3(APOB):c.10581G>C (p.Arg3527=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	See cases +9 more	GPathogenic/Likely pathogenic
Select item 40223	NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	APOB (R3527W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +7 more	GPathogenic/Likely pathogenic
Select item 180279	NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)	APOB (Q3432E)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 265890	NM_000384.3(APOB):c.10131G>A (p.Leu3377=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 218452	NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)	APOB (S3279G)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 490403	NM_000384.3(APOB):c.8877G>A (p.Leu2959=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +4 more	GBenign/Likely benign
Select item 490402	NM_000384.3(APOB):c.8720G>A (p.Arg2907His)	APOB (R2907H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 218450	NM_000384.3(APOB):c.8353A>C (p.Asn2785His)	APOB (N2785H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 128426	NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)	APOB (P2739L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 237751	NM_000384.3(APOB):c.8148C>T (p.Ile2716=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 334125	NM_000384.3(APOB):c.7615G>A (p.Val2539Ile)	APOB (V2539I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 255988	NM_000384.3(APOB):c.7612C>T (p.Leu2538=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 128425	NM_000384.3(APOB):c.7545C>T (p.Thr2515=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GBenign
Select item 218448	NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)	APOB (S2429T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 490400	NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg)	APOB (K2428R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 255986	NM_000384.3(APOB):c.7152T>C (p.Val2384=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 180280	NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	APOB (D2213del)	Microsatellite (inframe_deletion)	Hypercholesterolemia, autosomal dominant, type B +7 more	GConflicting classifications of pathogenicity
Select item 128423	NM_000384.3(APOB):c.5768A>G (p.His1923Arg)	APOB (H1923R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GBenign/Likely benign
Select item 218447	NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)	APOB (N1914S)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 189304	NM_000384.3(APOB):c.5066G>A (p.Arg1689His)	APOB (R1689H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +7 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 334144	NM_000384.3(APOB):c.4365C>T (p.Phe1455=)	APOB	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 218444	NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)	APOB (L1212M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 490392	NM_000384.3(APOB):c.3491G>A (p.Arg1164Lys)	APOB (R1164K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +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)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 334155	NM_000384.3(APOB):c.3426G>A (p.Ser1142=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 281142	NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	APOB (R1128H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +8 more	GConflicting classifications of pathogenicity
Select item 218443	NM_000384.3(APOB):c.3337G>C (p.Asp1113His)	APOB (D1113H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 255981	NM_000384.3(APOB):c.2706C>T (p.Asn902=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 218442	NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)	APOB (T741N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 128421	NM_000384.3(APOB):c.2188G>A (p.Val730Ile)	APOB (V730I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 402372	NM_000384.3(APOB):c.2068-4T>A	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +7 more	GConflicting classifications of pathogenicity
Select item 128420	NM_000384.3(APOB):c.1853C>T (p.Ala618Val)	APOB (A618V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign/Likely benign
Select item 255979	NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)	APOB (R532W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 265877	NM_000384.3(APOB):c.905-16A>C	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 412948	NM_000384.3(APOB):c.751G>A (p.Ala251Thr)	APOB (A251T)	Single nucleotide variant (missense variant)	APOB-related disorder +6 more	GBenign/Likely benign
Select item 235263	NM_000384.3(APOB):c.606A>T (p.Glu202Asp)	APOB (E202D)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 334181	NM_000384.3(APOB):c.581C>T (p.Thr194Met)	APOB (T194M)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 334182	NM_000384.3(APOB):c.538-9C>T	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +5 more	GBenign/Likely benign
Select item 334184	NM_000384.3(APOB):c.433C>T (p.Pro145Ser)	APOB (P145S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 265874	NM_000384.3(APOB):c.403A>G (p.Ile135Val)	APOB (I135V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 128422	NM_000384.3(APOB):c.293C>T (p.Thr98Ile)	APOB (T98I)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 334187	NM_000384.3(APOB):c.288G>T (p.Gln96His)	APOB (Q96H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 627785	NM_000384.3(APOB):c.238-6T>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +2 more	GBenign
Select item 918868	NM_000384.3(APOB):c.238-9A>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 630944	NM_000384.3(APOB):c.237+8G>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 924433	NM_000384.3(APOB):c.237+4T>C	APOB, LOC106560211	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 548044	NM_000384.3(APOB):c.218C>A (p.Ala73Asp)	APOB, LOC106560211 (A73D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 919669	NM_000384.3(APOB):c.215G>A (p.Ser72Asn)	APOB, LOC106560211 (S72N)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 627970	NM_000384.3(APOB):c.202G>A (p.Ala68Thr)	LOC106560211, APOB (A68T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 920621	NM_000384.3(APOB):c.187G>A (p.Gly63Arg)	APOB, LOC106560211 (G63R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 517778	NM_000384.3(APOB):c.168T>C (p.Tyr56=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +4 more	GBenign/Likely benign
Select item 921121	NM_000384.3(APOB):c.166T>C (p.Tyr56His)	APOB, LOC106560211 (Y56H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 490386	NM_000384.3(APOB):c.157A>T (p.Thr53Ser)	APOB, LOC106560211 (T53S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 431490	NM_000384.3(APOB):c.154T>C (p.Tyr52His)	APOB, LOC106560211 (Y52H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 926075	NM_000384.3(APOB):c.152A>G (p.Lys51Arg)	APOB, LOC106560211 (K51R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 919961	NM_000384.3(APOB):c.143A>T (p.His48Leu)	APOB, LOC106560211 (H48L)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 918936	NM_000384.3(APOB):c.141G>A (p.Lys47=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 630364	NM_000384.3(APOB):c.133C>G (p.Arg45Gly)	APOB, LOC106560211 (R45G)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 630365	NM_000384.3(APOB):c.129G>A (p.Ala43=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 334189	NM_000384.3(APOB):c.129G>C (p.Ala43=)	APOB, LOC106560211	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 924103	NM_000384.3(APOB):c.128C>T (p.Ala43Val)	APOB, LOC106560211 (A43V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 923853	NM_000384.3(APOB):c.110T>A (p.Leu37Gln)	APOB, LOC106560211 (L37Q)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 630366	NM_000384.3(APOB):c.107G>C (p.Ser36Thr)	APOB, LOC106560211 (S36T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GLikely benign
Select item 630367	NM_000384.3(APOB):c.85G>A (p.Glu29Lys)	APOB, LOC106560211 (E29K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 334190	NM_000384.3(APOB):c.83-11C>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity

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Items: 92