C0745103[trait identifier] AND "Institute for Integrative and Experime - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189307	NM_174936.4(PCSK9):c.449_450del (p.Phe150fs)	PCSK9 (F150fs)	Deletion (frameshift variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 189308	NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn)	PCSK9 (D204N +4 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 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 +10 more	GPathogenic/Likely pathogenic
Select item 189299	NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile)	APOB (S3346I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 189300	NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)	APOB (E2566K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +6 more	GConflicting classifications of pathogenicity
Select item 189301	NM_000384.3(APOB):c.7134C>A (p.Ser2378Arg)	APOB (S2378R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 180280	NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	APOB (D2213del)	Microsatellite (inframe_deletion)	Hypercholesterolemia, autosomal dominant, type B +7 more	GConflicting classifications of pathogenicity
Select item 189303	NM_000384.3(APOB):c.5654A>G (p.Tyr1885Cys)	APOB (Y1885C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 189304	NM_000384.3(APOB):c.5066G>A (p.Arg1689His)	APOB (R1689H)	Single nucleotide variant (missense variant)	APOB-related condition +7 more	GConflicting classifications of pathogenicity
Select item 189305	NM_000384.3(APOB):c.2585T>C (p.Val862Ala)	APOB (V862A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 189306	NM_000384.3(APOB):c.499C>T (p.Pro167Ser)	APOB (P167S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 189309	NM_012108.4(STAP1):c.139A>G (p.Thr47Ala)	STAP1 (T47A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3741	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	LDLR (W44*)	Single nucleotide variant (nonsense)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 189296	NM_000527.5(LDLR):c.313+2T>C	LDLR	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161261	NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	LDLR (R253W +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161287	NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	LDLR (D266E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 189297	NM_000527.5(LDLR):c.811G>A (p.Val271Ile)	LDLR (V271I +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 189298	NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)	LDLR (C276* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3694	NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	LDLR (V429M +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 162499	NM_000527.5(LDLR):c.1359-1G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161284	NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	LDLR (D482N +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 36461	NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)	LDLR (T726I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 68104	NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)	LDLR (R744Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database

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Items: 24