C0745103[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 828175	NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter)	APOB (C4353*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1	GUncertain significance
Select item 251085	NM_000527.5(LDLR):c.233G>A (p.Arg78His)	LDLR (R78H)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251162	NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	LDLR (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 431512	NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)	LDLR (P181L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 3690	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 375799	NM_000527.5(LDLR):c.743G>C (p.Cys248Ser)	LDLR (C248S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 183102	NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)	LDLR (G314R +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 251838	NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)	LDLR (D477N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251909	NM_000527.5(LDLR):c.1586+5G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 237865	NM_000527.5(LDLR):c.1706-2A>T	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 252004	NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys)	LDLR (W577C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 183125	NM_000527.5(LDLR):c.1765G>C (p.Asp589His)	LDLR (D589H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161290	NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	LDLR (R595W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226383	NM_000527.5(LDLR):c.2027del (p.Gly676fs)	LDLR (G508fs +2 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic