"Cohesion Phenomics"[submitter] AND "APOB"[gene] - ClinVar - NCBI

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Items: 18

	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)	Hypercholesterolemia, autosomal dominant, type B +6 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 +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)	Hypercholesterolemia, autosomal dominant, type B +6 more	GBenign
Select item 128417	NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)	APOB (E4181K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 255975	NM_000384.3(APOB):c.11904-7C>T	APOB	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 128416	NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)	APOB (R3638Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 255972	NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GBenign/Likely benign
Select item 218452	NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)	APOB (S3279G)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 128426	NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)	APOB (P2739L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 237751	NM_000384.3(APOB):c.8148C>T (p.Ile2716=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 128425	NM_000384.3(APOB):c.7545C>T (p.Thr2515=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 1169879	NM_000384.3(APOB):c.6936C>T (p.Asp2312=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
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 128420	NM_000384.3(APOB):c.1853C>T (p.Ala618Val)	APOB (A618V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 334173	NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)	APOB (I408T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 128422	NM_000384.3(APOB):c.293C>T (p.Thr98Ile)	APOB (T98I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 255983	NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])	APOB, LOC106560211	Microsatellite (inframe_deletion)	Hypercholesterolemia, autosomal dominant, type B +6 more	GBenign/Likely benign