ClinVar (all) for Orgtrack (Select 500536) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 441217	NM_000527.5(LDLR):c.1705+1del	LDLR	Deletion (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252360	NM_000527.5(LDLR):c.2575G>A (p.Val859Met)	LDLR (V859M +4 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 252359	NM_000527.5(LDLR):c.2552del (p.Gln851fs)	LDLR (Q673fs +3 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252358	NM_000527.5(LDLR):c.2549G>A (p.Arg850Lys)	LDLR (R850K +3 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 252357	NM_000527.5(LDLR):c.2548-2A>G	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252356	NM_000527.5(LDLR):c.2548-12A>G	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 252355	NM_000527.5(LDLR):c.2548-42A>G	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 252354	NM_000527.5(LDLR):c.2547+5G>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252353	NM_000527.5(LDLR):c.2547+3G>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 252352	NM_000527.5(LDLR):c.2547+1G>A	LDLR	Single nucleotide variant (splice donor variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 252351	NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)	LDLR	Deletion (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 252350	NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)	LDLR (S849* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 252349	NM_000527.5(LDLR):c.2544dup (p.Ser849fs)	LDLR (S808fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 252348	NM_000527.5(LDLR):c.2509del (p.His837fs)	LDLR (H669fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252347	NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)	LDLR (V836I +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 252346	NM_000527.5(LDLR):c.2500_2502delinsC (p.Asp834fs)	LDLR (D656fs +3 more)	Indel (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252345	NM_000527.5(LDLR):c.2482T>C (p.Tyr828His)	LDLR (Y828H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252344	NM_000527.5(LDLR):c.2478dup (p.Val827fs)	LDLR (V659fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252343	NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)	LDLR (P826T +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GLikely pathogenic
Select item 252342	NM_000527.5(LDLR):c.2478del (p.Val827fs)	LDLR (V827fs +3 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 252341	NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)	LDLR (N825K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252340	NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp)	LDLR (N825D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 252339	NM_000527.5(LDLR):c.2458_2466del (p.Ser820_Asn822del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 252338	NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter)	LDLR (K816* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252337	NM_000527.5(LDLR):c.2438G>A (p.Trp813Ter)	LDLR (W813* +3 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 252336	NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)	LDLR (K811* +3 more)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 252335	NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)	LDLR (W810* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 252334	NM_000527.5(LDLR):c.2420_2426del (p.Phe807fs)	LDLR (F629fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252333	NM_000527.5(LDLR):c.2417T>A (p.Val806Asp)	LDLR (V806D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 252332	NM_000527.5(LDLR):c.2417_2418insGG (p.Phe807fs)	LDLR (F629fs +3 more)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252331	NM_000527.5(LDLR):c.2417_2418insG (p.Phe807fs)	LDLR (F629fs +3 more)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252330	NM_000527.5(LDLR):c.2416dup (p.Val806fs)	LDLR (V806fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252329	NM_000527.5(LDLR):c.2416del (p.Val806fs)	LDLR (V628fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 252328	NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg)	LDLR (G805R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252327	NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro)	LDLR (L804P +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 252326	NM_000527.5(LDLR):c.2408_2409dup (p.Leu804fs)	LDLR (L763fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252325	NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup)	LDLR	Duplication (inframe_insertion)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252324	NM_000527.5(LDLR):c.2403_2406del (p.Leu802fs)	LDLR (L761fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252323	NM_000527.5(LDLR):c.2399T>A (p.Val800Asp)	LDLR (V800D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252322	NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs)	LDLR (V632fs +3 more)	Indel (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252321	NM_000527.5(LDLR):c.2397_2412del (p.Val800fs)	LDLR (V800fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 252320	NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)	LDLR (L799R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 252319	NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del)	LDLR (L799del +3 more)	Microsatellite (inframe_deletion)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252318	NM_000527.5(LDLR):c.2392_2400del (p.Leu798_Val800del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252317	NM_000527.5(LDLR):c.2390-1G>C	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 252316	NM_000527.5(LDLR):c.2390-1G>A	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 252315	c.(2389+1_2390-1)_(*2514_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252314	FH Vancouver 2	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252313	NM_000527.5(LDLR):c.2390-2A>G	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 252312	NM_000527.5(LDLR):c.2390-16G>A	LDLR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 252311	NM_000527.5(LDLR):c.2389+57C>T	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 252310	NM_000527.5(LDLR):c.2389+41C>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252309	NM_000527.5(LDLR):c.2389+23G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 252308	NM_000527.5(LDLR):c.2389+14G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252307	NM_000527.5(LDLR):c.2389+5G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 252306	NM_000527.5(LDLR):c.2389+5G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252305	NM_000527.5(LDLR):c.2389+4dup	LDLR	Duplication (intron variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 252304	NM_000527.5(LDLR):c.2389+4A>G	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252303	NM_000527.5(LDLR):c.2389+3A>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 252302	NM_000527.5(LDLR):c.2389+2T>G	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252301	NM_000527.5(LDLR):c.2389+2_2389+5delinsGGCCCCAT	LDLR	Indel (splice donor variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252300	NM_000527.5(LDLR):c.2389+1G>T	LDLR	Single nucleotide variant (splice donor variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 252299	NM_000527.5(LDLR):c.2389+1G>A	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 252298	NM_000527.5(LDLR):c.2389G>T (p.Val797Leu)	LDLR (V797L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 252297	NM_000527.5(LDLR):c.2385del (p.Ile796fs)	LDLR (I628fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252296	NM_000527.5(LDLR):c.2384C>A (p.Pro795His)	LDLR (P795H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252295	NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)	LDLR (I792T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252294	NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe)	LDLR (I792F +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252293	NM_000527.5(LDLR):c.2364G>T (p.Arg788Ser)	LDLR (R788S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 252292	NM_000527.5(LDLR):c.2360T>A (p.Val787Glu)	LDLR (V787E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252291	NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys)	LDLR (S786C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 252290	NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp)	LDLR (E781D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 252289	NM_000527.5(LDLR):c.2343_2347del (p.Lys782fs)	LDLR (K614fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252288	NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)	LDLR (R600fs +3 more)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252287	NM_000527.5(LDLR):c.2322_2342del (p.Asp774_Asn780del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 252286	NM_000527.5(LDLR):c.2318del (p.Gly773fs)	LDLR (G732fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252285	NM_000527.5(LDLR):c.2317_2318insTA (p.Gly773fs)	LDLR (G773fs +3 more)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252284	c.(2311+1_2312-1)_(*2514_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252283	c.(2311+1_2312-1)_*807del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252282	c.(2311+1_2312-1)_(*220_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252281	c.(2311+1_2312-1)_(2547+1_2548-1)dup	LDLR	Duplication	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252280	c.(2311+1_2312-1)_(2389+1_2390-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252279	FH Tsukuba 2	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252278	NM_000527.5(LDLR):c.2312-47G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign
Select item 252277	NM_000527.5(LDLR):c.2312-136A>G	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign/Likely benign
Select item 252276	NM_000527.5(LDLR):c.2311+1941_*1216dup	LDLR	Duplication (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252275	NM_000527.5(LDLR):c.2311+2T>G	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 252274	NM_000527.5(LDLR):c.2311+1G>T	LDLR	Single nucleotide variant (splice donor variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 252273	NM_000527.5(LDLR):c.2311+1G>C	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252272	NM_000527.5(LDLR):c.2311+1G>A	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic
Select item 252271	NM_000527.5(LDLR):c.2308C>T (p.Gln770Ter)	LDLR (Q770* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252270	NM_000527.5(LDLR):c.2299del (p.Met767fs)	LDLR (M726fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252269	NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile)	LDLR (T766I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 252268	NM_000527.5(LDLR):c.2297_2298del (p.Thr766fs)	LDLR (T598fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252267	NM_000527.5(LDLR):c.2296A>G (p.Thr766Ala)	LDLR (T766A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 252266	NM_000527.5(LDLR):c.2294T>G (p.Val765Gly)	LDLR (V765G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 252265	NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr)	LDLR (I764T +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 252264	NM_000527.5(LDLR):c.2266del (p.Thr756fs)	LDLR (T578fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252263	NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs)	LDLR (A577fs +3 more)	Deletion (frameshift variant)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 252262	NM_000527.5(LDLR):c.2232A>G (p.Arg744=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign

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