"Revvity Omics, Revvity"[submitter] AND "APOB"[gene] - ClinVar

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Items: 24

	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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 440513	NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)	APOB (Y4343fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 627770	NM_000384.3(APOB):c.12614C>T (p.Pro4205Leu)	APOB (P4205L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1760942	NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)	APOB (R4177*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1704963	NM_000384.3(APOB):c.11330C>A (p.Ser3777Ter)	APOB (S3777*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +9 more	GPathogenic/Likely pathogenic
Select item 40223	NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	APOB (R3527W)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +7 more	GPathogenic/Likely pathogenic
Select item 434252	NM_000384.3(APOB):c.10238del (p.Thr3413fs)	APOB (T3413fs)	Deletion (frameshift variant)	Familial hypobetalipoproteinemia 1 +4 more	GPathogenic/Likely pathogenic
Select item 630605	NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu)	APOB (F3150L)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 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 specified +6 more	GConflicting classifications of pathogenicity
Select item 544076	NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)	APOB (F3039fs)	Microsatellite (frameshift variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GPathogenic/Likely pathogenic
Select item 477822	NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)	APOB (N2961S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 944560	NM_000384.3(APOB):c.8394G>T (p.Glu2798Asp)	APOB (E2798D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 843259	NM_000384.3(APOB):c.8392G>T (p.Glu2798Ter)	APOB (E2798*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 630612	NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)	APOB (A2365V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 838558	NM_000384.3(APOB):c.5316del (p.Asn1772fs)	APOB (N1772fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189304	NM_000384.3(APOB):c.5066G>A (p.Arg1689His)	APOB (R1689H)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 1323360	NM_000384.3(APOB):c.4991del (p.Leu1664fs)	APOB (L1664fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 695322	NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys)	APOB (R1128C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 895983	NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg)	APOB (G1074R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 1323920	NM_000384.3(APOB):c.2999+1G>A	APOB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1323922	NM_000384.3(APOB):c.2817-2A>C	APOB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 630336	NM_000384.3(APOB):c.2535G>C (p.Gln845His)	APOB (Q845H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 827638	NM_000384.3(APOB):c.1279C>T (p.Arg427Ter)	APOB (R427*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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Items: 24