"Eurofins Ntd Llc (ga)"[submitter] AND "APOB"[gene] - ClinVar - NCBI

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Items: 9

	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, familial, 1 +6 more	GConflicting classifications of pathogenicity
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 402375	NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys)	APOB (N3213K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 594732	NM_000384.3(APOB):c.8661T>C (p.Thr2887=)	APOB	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 499079	NM_000384.3(APOB):c.5198AAG[1] (p.Glu1734del)	APOB (E1734del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 281142	NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	APOB (R1128H)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +8 more	GConflicting classifications of pathogenicity
Select item 500042	NM_000384.3(APOB):c.2302A>G (p.Lys768Glu)	APOB (K768E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 597380	NM_000384.3(APOB):c.1033G>A (p.Ala345Thr)	APOB (A345T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 412948	NM_000384.3(APOB):c.751G>A (p.Ala251Thr)	APOB (A251T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign