"Phosphorus, Inc."[submitter] AND "APOB"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334125	NM_000384.3(APOB):c.7615G>A (p.Val2539Ile)	APOB (V2539I)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 369884	NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys)	APOB (R2444C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 1339293	NM_000384.3(APOB):c.6389A>G (p.Asn2130Ser)	APOB (N2130S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 1339303	NM_000384.3(APOB):c.3561A>G (p.Lys1187=)	APOB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 281142	NM_000384.3(APOB):c.3383G>A (p.Arg1128His)	APOB (R1128H)	Single nucleotide variant (missense variant)	APOB-related condition +7 more	GConflicting classifications of pathogenicity
Select item 920952	NM_000384.3(APOB):c.2536T>A (p.Leu846Met)	APOB (L846M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 488157	NM_000384.3(APOB):c.386A>G (p.Tyr129Cys)	APOB (Y129C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance