"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255978	NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)	APOB (T4484M)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 2080508	NM_000384.3(APOB):c.13268C>G (p.Ser4423Cys)	APOB (S4423C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 440513	NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)	APOB (Y4343fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +5 more	GBenign
Select item 237739	NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)	APOB (I4314V)	Single nucleotide variant (missense variant)	not specified +5 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 +5 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 255976	NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)	APOB (S4233T)	Single nucleotide variant (missense variant)	not provided +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 920558	NM_000384.3(APOB):c.12342G>T (p.Trp4114Cys)	APOB (W4114C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 490382	NM_000384.3(APOB):c.12088-13del	APOB	Deletion (intron variant)	not provided +3 more	GBenign
Select item 255975	NM_000384.3(APOB):c.11904-7C>T	APOB	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 334091	NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala)	APOB (T3945A)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 2920870	NM_000384.3(APOB):c.11822T>C (p.Leu3941Ser)	APOB (L3941S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255974	NM_000384.3(APOB):c.11808C>T (p.Ile3936=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 402379	NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)	APOB (V3921I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 2921149	NM_000384.3(APOB):c.11417C>T (p.Ser3806Phe)	APOB (S3806F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 237734	NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)	APOB (S3801T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 255972	NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	APOB	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 265893	NM_000384.3(APOB):c.10701G>A (p.Thr3567=)	APOB	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 265892	NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)	APOB (Y3560C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1782082	NM_000384.3(APOB):c.10676T>C (p.Ile3559Thr)	APOB (I3559T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 17897	NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)	APOB (R3558C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	APOB-Related Disorders +10 more	GPathogenic/Likely pathogenic
Select item 180279	NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)	APOB (Q3432E)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 265890	NM_000384.3(APOB):c.10131G>A (p.Leu3377=)	APOB	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 255990	NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)	APOB (S3294P)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 218452	NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)	APOB (S3279G)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 334109	NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser)	APOB (G3271S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 700646	NM_000384.3(APOB):c.9804G>A (p.Ser3268=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GLikely benign
Select item 664229	NM_000384.3(APOB):c.9770A>G (p.Asn3257Ser)	APOB (N3257S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 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 334116	NM_000384.3(APOB):c.9004C>T (p.Leu3002=)	APOB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1330910	NM_000384.3(APOB):c.8783C>T (p.Ser2928Leu)	APOB (S2928L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402376	NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)	APOB (I2850M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 218451	NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)	APOB (P2821L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 218450	NM_000384.3(APOB):c.8353A>C (p.Asn2785His)	APOB (N2785H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 922584	NM_000384.3(APOB):c.8149G>A (p.Ala2717Thr)	APOB (A2717T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 237751	NM_000384.3(APOB):c.8148C>T (p.Ile2716=)	APOB	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 583390	NM_000384.3(APOB):c.7727G>A (p.Arg2576His)	APOB (R2576H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 189300	NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)	APOB (E2566K)	Single nucleotide variant (missense variant)	Stroke disorder +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, familial, 1 +5 more	GBenign
Select item 255987	NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)	APOB (A2456D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1168905	NM_000384.3(APOB):c.6937A>G (p.Ile2313Val)	APOB (I2313V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 128424	NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)	APOB (I2313V)	Inversion (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1169879	NM_000384.3(APOB):c.6936C>T (p.Asp2312=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +3 more	GBenign
Select item 180280	NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	APOB (D2213del)	Microsatellite (inframe_deletion)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 918248	NM_000384.3(APOB):c.5490C>T (p.Ala1830=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely 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 697800	NM_000384.3(APOB):c.5064C>T (p.Gly1688=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely 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 334144	NM_000384.3(APOB):c.4365C>T (p.Phe1455=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
Select item 1168906	NM_000384.3(APOB):c.4265= (p.Cys1422=)	APOB	Variation (no sequence alteration)	not provided +2 more	GBenign
Select item 697877	NM_000384.3(APOB):c.4251G>A (p.Thr1417=)	APOB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 733076	NM_000384.3(APOB):c.3846T>C (p.Asp1282=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 334149	NM_000384.3(APOB):c.3843C>T (p.Ser1281=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +7 more	GConflicting classifications of pathogenicity
Select item 2920954	NM_000384.3(APOB):c.3675C>T (p.His1225=)	APOB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 255984	NM_000384.3(APOB):c.3509-10G>A	APOB	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 334153	NM_000384.3(APOB):c.3509-11C>T	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 895699	NM_000384.3(APOB):c.3449T>A (p.Met1150Lys)	APOB (M1150K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 281142	NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	APOB (R1128H)	Single nucleotide variant (missense variant)	APOB-related condition +7 more	GConflicting classifications of pathogenicity
Select item 218443	NM_000384.3(APOB):c.3337G>C (p.Asp1113His)	APOB (D1113H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 1330528	NM_000384.3(APOB):c.3294C>T (p.Asn1098=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +3 more	GLikely benign
Select item 544092	NM_000384.3(APOB):c.3279C>G (p.Thr1093=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +3 more	GBenign/Likely benign
Select item 1728669	NM_000384.3(APOB):c.3190G>T (p.Val1064Phe)	APOB (V1064F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 237743	NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)	APOB (P994L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 255980	NM_000384.3(APOB):c.2604+15G>C	APOB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 334167	NM_000384.3(APOB):c.2244+3G>A	APOB	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 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 +5 more	GConflicting classifications of pathogenicity
Select item 128421	NM_000384.3(APOB):c.2188G>A (p.Val730Ile)	APOB (V730I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 700579	NM_000384.3(APOB):c.2047G>T (p.Ala683Ser)	APOB (A683S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GBenign/Likely benign
Select item 334171	NM_000384.3(APOB):c.1785C>G (p.Ser595=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 199684	NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)	APOB (P554L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 1330786	NM_000384.3(APOB):c.1618-13del	APOB	Deletion (intron variant)	not provided	GLikely benign
Select item 334173	NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)	APOB (I408T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1530396	NM_000384.3(APOB):c.1124+18C>T	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GBenign/Likely benign
Select item 265876	NM_000384.3(APOB):c.905-15C>G	APOB	Single nucleotide variant (intron variant)	APOB-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1330480	NM_000384.3(APOB):c.904+20T>A	APOB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 334176	NM_000384.3(APOB):c.904+11C>G	APOB	Single nucleotide variant (intron variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 544129	NM_000384.3(APOB):c.895T>G (p.Phe299Val)	APOB (F299V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 1330894	NM_000384.3(APOB):c.877A>G (p.Lys293Glu)	APOB (K293E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 235263	NM_000384.3(APOB):c.606A>T (p.Glu202Asp)	APOB (E202D)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GBenign/Likely benign
Select item 334181	NM_000384.3(APOB):c.581C>T (p.Thr194Met)	APOB (T194M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GBenign/Likely benign
Select item 1330634	NM_000384.3(APOB):c.537+1G>T	APOB	Single nucleotide variant (splice donor variant)	Familial hypobetalipoproteinemia 1 +2 more	GPathogenic/Likely pathogenic
Select item 477808	NM_000384.3(APOB):c.434C>T (p.Pro145Leu)	APOB (P145L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 334184	NM_000384.3(APOB):c.433C>T (p.Pro145Ser)	APOB (P145S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 426250	NM_000384.3(APOB):c.49CTG[8] (p.Leu21_Leu22dup)	APOB, LOC106560211	Microsatellite (inframe_insertion)	Cardiovascular phenotype +4 more	GBenign/Likely benign

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Items: 89