"Ambry Genetics"[submitter] AND "APOB3'MAR"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 477801	NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3127902	NM_000384.3(APOB):c.13675C>T (p.Leu4559Phe)	APOB, APOB3'MAR (L4559F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 919908	NM_000384.3(APOB):c.13670G>C (p.Gly4557Ala)	APOB, APOB3'MAR (G4557A)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 2451328	NM_000384.3(APOB):c.13663G>T (p.Ala4555Ser)	APOB, APOB3'MAR (A4555S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 334066	NM_000384.3(APOB):c.13654A>G (p.Met4552Val)	APOB, APOB3'MAR (M4552V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 630601	NM_000384.3(APOB):c.13651T>C (p.Tyr4551His)	APOB, APOB3'MAR (Y4551H)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 2451292	NM_000384.3(APOB):c.13647C>A (p.Asn4549Lys)	APOB, APOB3'MAR (N4549K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770877	NM_000384.3(APOB):c.13632A>G (p.Ser4544=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770852	NM_000384.3(APOB):c.13623G>C (p.Lys4541Asn)	APOB, APOB3'MAR (K4541N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1498988	NM_000384.3(APOB):c.13621A>C (p.Lys4541Gln)	APOB, APOB3'MAR (K4541Q)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 1770838	NM_000384.3(APOB):c.13615C>A (p.Leu4539Met)	APOB, APOB3'MAR (L4539M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1503285	NM_000384.3(APOB):c.13608G>A (p.Thr4536=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +2 more	GLikely benign
Select item 1042701	NM_000384.3(APOB):c.13607C>T (p.Thr4536Met)	APOB, APOB3'MAR (T4536M)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1770752	NM_000384.3(APOB):c.13590A>G (p.Thr4530=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 630644	NM_000384.3(APOB):c.13586A>G (p.His4529Arg)	APOB, APOB3'MAR (H4529R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1770732	NM_000384.3(APOB):c.13583A>G (p.Tyr4528Cys)	APOB, APOB3'MAR (Y4528C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance