ClinVar for PubMed (Select 22353362) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2099294	NM_000527.5(LDLR):c.1433G>T (p.Gly478Val)	LDLR (G478V +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 252220	NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)	LDLR (D700G +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 252022	NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)	LDLR (D589N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251960	NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)	LDLR (S554L +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 251617	NM_000527.5(LDLR):c.1054T>A (p.Cys352Ser)	LDLR (C352S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 251597	NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)	LDLR (L339P +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 251446	NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)	LDLR (R257W +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 251105	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	LDLR (D90N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 250986	NM_000527.5(LDLR):c.64del (p.Ala22fs)	LDLR-AS1, LDLR (A22fs)	Deletion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 226344	NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)	LDLR (C329Y +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 200923	NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)	LDLR (D700N +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 200921	NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	LDLR (H583Y +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 161277	NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	LDLR (G478R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 40223	NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	APOB (R3527W)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +7 more	GPathogenic/Likely pathogenic