ClinVar (all) for Orgtrack (Select 505989) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 368

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548111	NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln)	PCSK9 (R165Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GUncertain significance
Select item 548110	NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp)	PCSK9 (R165W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GUncertain significance
Select item 548107	NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln)	PCSK9 (R105Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GUncertain significance
Select item 548106	NM_174936.4(PCSK9):c.1864-13C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 548105	NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr)	PCSK9 (A598T +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, 3 +4 more	GConflicting classifications of pathogenicity
Select item 548104	NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)	PCSK9 (E57K)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 548103	NM_174936.4(PCSK9):c.1671C>T (p.His557=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, autosomal dominant, 3 +3 more	GLikely benign
Select item 548102	GRCh37/hg19 19p13.2(chr19:11210898-11218191)x3	LDLR	Copy number gain	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 548101	GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548100	GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548099	GRCh38/hg38 19p13.2(chr19:11116092-11116093)x3	LDLR	Copy number gain	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 548098	GRCh38/hg38 19p13.2(chr19:11128007-11133830)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548097	GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1	LDLR, LDLR-AS1 +2 more	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548096	GRCh38/hg38 19p13.2(chr19:11129512-11133830)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548095	GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1	LDLR, LDLR-AS1	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548094	GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1	LDLR, LDLR-AS1 +2 more	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548093	GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548092	GRCh38/hg38 19p13.2(chr19:11106564-11107515)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548091	GRCh38/hg38 19p13.2(chr19:11120091-11120523)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548090	GRCh38/hg38 19p13.2(chr19:11120091-11123345)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548089	GRCh38/hg38 19p13.2(chr19:11110650-11110651)x3	LDLR	Copy number gain	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 548088	GRCh38/hg38 19p13.2(chr19:11116093-11116999)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548083	NM_000527.5(LDLR):c.2092T>G (p.Cys698Gly)	LDLR (C698G +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548082	NM_000527.5(LDLR):c.2088C>T (p.Cys696=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 548081	NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe)	LDLR (L634F +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 548080	NM_000527.5(LDLR):c.1744C>G (p.Leu582Val)	LDLR (L582V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548079	NM_000527.5(LDLR):c.1693_1696del (p.Gly565fs)	LDLR (G438fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548078	NM_000527.5(LDLR):c.1587-11C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 548076	NM_000527.5(LDLR):c.1432G>T (p.Gly478Trp)	LDLR (G478W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 548075	NM_000527.5(LDLR):c.1418T>G (p.Ile473Ser)	LDLR (I473S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548073	NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu)	APOB (K3232E)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548072	NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys)	APOB (N3211K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548071	NM_000384.3(APOB):c.9471C>T (p.Gly3157=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely benign
Select item 548070	NM_000384.3(APOB):c.9387T>G (p.Pro3129=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GLikely benign
Select item 548069	NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn)	APOB (T3032N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548068	NM_000384.3(APOB):c.900T>C (p.Gly300=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely benign
Select item 548067	NM_000384.3(APOB):c.889C>T (p.Arg297Cys)	APOB (R297C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 548066	NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)	APOB (L2898P)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 548065	NM_000384.3(APOB):c.7296C>T (p.Tyr2432=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 548064	NM_000384.3(APOB):c.6943G>A (p.Glu2315Lys)	APOB (E2315K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 548063	NM_000384.3(APOB):c.6815A>G (p.His2272Arg)	APOB (H2272R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548062	NM_000384.3(APOB):c.5863G>A (p.Val1955Met)	APOB (V1955M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 548061	NM_000384.3(APOB):c.5715G>A (p.Met1905Ile)	APOB (M1905I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548060	NM_000384.3(APOB):c.5646C>G (p.Ser1882Arg)	APOB (S1882R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GUncertain significance
Select item 548059	NM_000384.3(APOB):c.5616C>T (p.Ile1872=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +3 more	GLikely benign
Select item 548058	NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn)	APOB (D1854N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548057	NM_000384.3(APOB):c.42del (p.Pro15fs)	APOB, LOC106560211 (P15fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548056	NM_000384.3(APOB):c.42_43del (p.Pro15fs)	APOB, LOC106560211 (P15fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548055	NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)	APOB (A1371T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548054	NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln)	APOB (R1284Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 548053	NM_000384.3(APOB):c.3656C>T (p.Thr1219Ile)	APOB (T1219I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GUncertain significance
Select item 548052	NM_000384.3(APOB):c.37_42del (p.Ala13_Leu14del)	APOB, LOC106560211	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548051	NM_000384.3(APOB):c.35_41del (p.Leu12fs)	APOB, LOC106560211 (L12fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548049	NM_000384.3(APOB):c.3096C>G (p.Thr1032=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +2 more	GLikely benign
Select item 548048	NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)	APOB (A1018T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548047	NM_000384.3(APOB):c.3051C>T (p.Ser1017=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely benign
Select item 548046	NM_000384.3(APOB):c.2950G>A (p.Ala984Thr)	APOB (A984T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548045	NM_000384.3(APOB):c.2308G>A (p.Val770Ile)	APOB (V770I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 548044	NM_000384.3(APOB):c.218C>A (p.Ala73Asp)	APOB, LOC106560211 (A73D)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +5 more	GConflicting classifications of pathogenicity
Select item 548043	NM_000384.3(APOB):c.1773C>T (p.Asn591=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 548042	NM_000384.3(APOB):c.1734C>T (p.Val578=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 548041	NM_000384.3(APOB):c.1618-13C>T	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548040	NM_000384.3(APOB):c.1617+7T>C	APOB	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GConflicting classifications of pathogenicity
Select item 548039	NM_000384.3(APOB):c.1493C>T (p.Thr498Ile)	APOB (T498I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 548038	NM_000384.3(APOB):c.1402A>G (p.Asn468Asp)	APOB (N468D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 548037	NM_000384.3(APOB):c.13116A>G (p.Gln4372=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely benign
Select item 548036	NM_000384.3(APOB):c.122-6C>T	APOB, LOC106560211	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 548035	NM_000384.3(APOB):c.11509G>T (p.Ala3837Ser)	APOB (A3837S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GUncertain significance
Select item 548034	NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe)	APOB (L3786F)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 548033	NM_000384.3(APOB):c.10508C>T (p.Ser3503Leu)	APOB (S3503L)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GConflicting classifications of pathogenicity
Select item 548032	NM_000384.3(APOB):c.10367C>T (p.Ser3456Phe)	APOB (S3456F)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 544124	NM_000384.3(APOB):c.11934C>T (p.Ile3978=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, autosomal dominant, type B +3 more	GLikely benign
Select item 544070	NM_000384.3(APOB):c.12343G>A (p.Val4115Ile)	APOB (V4115I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +2 more	GUncertain significance
Select item 517066	NM_174936.4(PCSK9):c.609C>T (p.Thr203=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 511550	NM_000527.5(LDLR):c.330C>G (p.Ser110=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 496568	NM_174936.4(PCSK9):c.993C>T (p.Pro331=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +4 more	GBenign/Likely benign
Select item 495856	NM_000384.3(APOB):c.10740C>T (p.Asn3580=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 490405	NM_000384.3(APOB):c.9855C>T (p.Ile3285=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 490403	NM_000384.3(APOB):c.8877G>A (p.Leu2959=)	APOB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 490389	NM_000384.3(APOB):c.2630C>T (p.Pro877Leu)	APOB (P877L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 477820	NM_000384.3(APOB):c.8469T>C (p.Ala2823=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 477816	NM_000384.3(APOB):c.690C>A (p.Gly230=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +3 more	GLikely benign
Select item 477813	NM_000384.3(APOB):c.6261C>A (p.Thr2087=)	APOB	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 477809	NM_000384.3(APOB):c.4825T>C (p.Leu1609=)	APOB	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 477801	NM_000384.3(APOB):c.13680T>C (p.Thr4560=)	APOB, APOB3'MAR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 477785	NM_000384.3(APOB):c.10371C>T (p.Ser3457=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +5 more	GConflicting classifications of pathogenicity
Select item 468295	NM_174936.4(PCSK9):c.1869C>T (p.Thr623=)	PCSK9	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 456650	NM_000527.5(LDLR):c.1323C>T (p.Ile441=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 450695	NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)	APOB (T1511I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 440696	NM_000527.5(LDLR):c.2427A>G (p.Leu809=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GBenign/Likely benign
Select item 438338	NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)	PCSK9 (R496Q +6 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 438324	NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)	LDLR (L575F +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 431532	NM_000527.5(LDLR):c.1586+12C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 431500	NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)	APOB (I1555V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 431493	NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)	APOB (A990T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 413317	NM_174936.4(PCSK9):c.336G>A (p.Leu112=)	PCSK9	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 413316	NM_174936.4(PCSK9):c.1354+9G>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, autosomal dominant, 3 +5 more	GConflicting classifications of pathogenicity
Select item 413314	NM_174936.4(PCSK9):c.1227C>T (p.Ala409=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 412954	NM_000384.3(APOB):c.12318A>G (p.Arg4106=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 412951	NM_000384.3(APOB):c.13452G>A (p.Thr4484=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia 1 +4 more	GLikely benign

<< First< Prev

Page of 4