"AiLife Diagnostics, AiLife Diagnostics"[submitter] AND "APOB"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440511	NM_000384.3(APOB):c.13126C>T (p.Gln4376Ter)	APOB (Q4376*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 544074	NM_000384.3(APOB):c.12739C>T (p.Gln4247Ter)	APOB (Q4247*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, autosomal dominant, type B +4 more	GUncertain significance
Select item 630249	NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr)	APOB (I3768T)	Single nucleotide variant (missense variant)	APOB-related disorder +3 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)	APOB-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 1541273	NM_000384.3(APOB):c.2436+17C>A	APOB	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 630348	NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys)	APOB (Y637C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1678000	NM_000384.3(APOB):c.1786C>T (p.His596Tyr)	APOB (H596Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 265882	NM_000384.3(APOB):c.1580C>T (p.Ala527Val)	APOB (A527V)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +3 more	GUncertain significance
Select item 431490	NM_000384.3(APOB):c.154T>C (p.Tyr52His)	APOB, LOC106560211 (Y52H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance