"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402373	NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)	APOB (S4430T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 402382	NM_000384.3(APOB):c.13181T>C (p.Val4394Ala)	APOB (V4394A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 402374	NM_000384.3(APOB):c.13154G>A (p.Arg4385His)	APOB (R4385H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 334088	NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)	APOB (E3971K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 402379	NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)	APOB (V3921I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 237735	NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)	APOB (T3826M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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, familial, 1 +6 more	GBenign/Likely benign
Select item 440518	NM_000384.3(APOB):c.10739A>G (p.Asn3580Ser)	APOB (N3580S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	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)	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)	Homozygous familial hypercholesterolemia +9 more	GPathogenic/Likely pathogenic
Select item 40223	NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	APOB (R3527W)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +7 more	GPathogenic/Likely pathogenic
Select item 402381	NM_000384.3(APOB):c.10556C>T (p.Thr3519Ile)	APOB (T3519I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 627775	NM_000384.3(APOB):c.10385A>G (p.Tyr3462Cys)	APOB (Y3462C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 218452	NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)	APOB (S3279G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 402375	NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys)	APOB (N3213K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 630268	NM_000384.3(APOB):c.9445G>A (p.Asp3149Asn)	APOB (D3149N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 3076010	NM_000384.3(APOB):c.8898dup (p.His2967fs)	APOB (H2967fs)	Duplication (frameshift variant)	Hypobetalipoproteinemia	GLikely pathogenic
Select item 2044989	NM_000384.3(APOB):c.8739_8740del (p.Leu2914fs)	APOB (L2914fs)	Deletion (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GPathogenic/Likely pathogenic
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 218451	NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu)	APOB (P2821L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 544091	NM_000384.3(APOB):c.8309C>T (p.Thr2770Ile)	APOB (T2770I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 265889	NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr)	APOB (I2618T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 402380	NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)	APOB (E2566D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 189300	NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)	APOB (E2566K)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 895430	NM_000384.3(APOB):c.7600C>T (p.Arg2534Ter)	APOB (R2534*)	Single nucleotide variant (nonsense)	Hypobetalipoproteinemia +2 more	GConflicting classifications of pathogenicity
Select item 218448	NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)	APOB (S2429T)	Single nucleotide variant (missense variant)	not specified +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)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 252485	NM_000384.3(APOB):c.6895G>C (p.Asp2299His)	APOB (D2299H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 402377	NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys)	APOB (R2219C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 180280	NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	APOB (D2213del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
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 265887	NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp)	APOB (R1867W)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 544101	NM_000384.3(APOB):c.5183A>G (p.Asn1728Ser)	APOB (N1728S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 189304	NM_000384.3(APOB):c.5066G>A (p.Arg1689His)	APOB (R1689H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 627779	NM_000384.3(APOB):c.4280G>A (p.Arg1427His)	APOB (R1427H)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 3076012	NM_000384.3(APOB):c.4139_4140del (p.Thr1380fs)	APOB (T1380fs)	Microsatellite (frameshift variant)	Hypobetalipoproteinemia	GLikely pathogenic
Select item 1458005	NM_000384.3(APOB):c.3778G>T (p.Glu1260Ter)	APOB (E1260*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +2 more	GPathogenic/Likely pathogenic
Select item 490392	NM_000384.3(APOB):c.3491G>A (p.Arg1164Lys)	APOB (R1164K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +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 +7 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 disorder +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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 237743	NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)	APOB (P994L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 402378	NM_000384.3(APOB):c.2914G>A (p.Gly972Ser)	APOB (G972S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 630345	NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)	APOB (G753E)	Single nucleotide variant (missense 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 +6 more	GConflicting classifications of pathogenicity
Select item 334173	NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)	APOB (I408T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 265877	NM_000384.3(APOB):c.905-16A>C	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 228245	NM_000384.3(APOB):c.631C>T (p.Gln211Ter)	APOB (Q211*)	Single nucleotide variant (nonsense)	Hypobetalipoproteinemia +1 more	GLikely pathogenic
Select item 2582602	NM_000384.3(APOB):c.78_82+5del	APOB, LOC106560211	Deletion (splice donor variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GLikely pathogenic
Select item 402370	NM_000384.3(APOB):c.35del (p.Leu12fs)	APOB, LOC106560211 (L12fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 402371	NM_000384.3(APOB):c.26_33del (p.Leu9fs)	APOB, LOC106560211 (L9fs)	Deletion (frameshift variant)	not specified	GBenign

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Items: 53