LDLR[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 3709	NC_000019.10:g.(11077742_11077775)_(11093595_11093630)del	LDLR, LDLR-AS1 +1 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 369874	Single allele	LDLR, LDLR-AS1 +1 more	Deletion	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 250924	NM_000527.4(LDLR):c.-1823_190+566del	LOC126862856, LDLR +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 694275	NC_000019.10:g.11087732_11090710del	LDLR, LDLR-AS1	Deletion	Hypercholesterolemia	GPathogenic
Select item 430741	NM_000527.4(LDLR):c.-229_-90del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440531	NM_000527.4(LDLR):c.-193_-187delinsTG	LDLR, LDLR-AS1	Indel (non-coding transcript variant)	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 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 254031	NM_000527.4(LDLR):c.-187_67+?del	LDLR, LDLR-AS1	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250941	NR_163945.1(LDLR-AS1):n.295_297del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 375769	NM_000527.4(LDLR):c.-168A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 375770	NM_000527.4(LDLR):c.-155_-150del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 440533	NM_000527.4(LDLR):c.-151C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440534	NM_000527.4(LDLR):c.-150A>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250946	NM_000527.4(LDLR):c.-149C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250955	NM_000527.4(LDLR):c.-136C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 250956	NM_000527.4(LDLR):c.-135C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 375771	NM_000527.4(LDLR):c.-124dup	LDLR, LDLR-AS1	Duplication (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 375772	NM_000527.4(LDLR):c.-99A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 440535	NM_000527.4(LDLR):c.-98C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 526771	NC_000019.10:g.(?_11089529)_(11100365_?)del	LDLR, LDLR-AS1 +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1809533	NM_000527.5(LDLR):c.1_67del (p.Met1fs)	LDLR, LDLR-AS1 (M1fs)	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 250968	NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	LDLR, LDLR-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 250967	NM_000527.5(LDLR):c.1A>G (p.Met1Val)	LDLR, LDLR-AS1 (M1V)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250966	NM_000527.5(LDLR):c.1A>C (p.Met1Leu)	LDLR, LDLR-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 441174	NM_000527.5(LDLR):c.2T>C (p.Met1Thr)	LDLR, LDLR-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 440536	NM_000527.5(LDLR):c.3G>A (p.Met1Ile)	LDLR, LDLR-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250969	NM_000527.5(LDLR):c.3G>T (p.Met1Ile)	LDLR, LDLR-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226303	NM_000527.5(LDLR):c.6del (p.Trp4fs)	LDLR, LDLR-AS1 (W4fs)	Deletion (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 250972	NM_000527.5(LDLR):c.9del (p.Trp4fs)	LDLR, LDLR-AS1 (W4fs)	Deletion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250973	NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic
Select item 237860	NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 369864	NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)	LDLR, LDLR-AS1 (W6fs)	Insertion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1452256	NM_000527.5(LDLR):c.17G>A (p.Trp6Ter)	LDLR, LDLR-AS1 (W6*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GPathogenic
Select item 3075748	NM_000527.5(LDLR):c.18G>A (p.Trp6Ter)	LDLR, LDLR-AS1 (W6*)	Single nucleotide variant (non-coding transcript variant +1 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 2491048	NM_000527.5(LDLR):c.23T>A (p.Leu8Ter)	LDLR, LDLR-AS1 (L8*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 250974	NM_000527.5(LDLR):c.28_38del (p.Trp10fs)	LDLR, LDLR-AS1 (W10fs)	Deletion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250976	NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)	LDLR, LDLR-AS1 (W10R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 250975	NM_000527.5(LDLR):c.28T>A (p.Trp10Arg)	LDLR, LDLR-AS1 (W10R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 440537	NM_000527.5(LDLR):c.29G>A (p.Trp10Ter)	LDLR-AS1, LDLR (W10*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 627856	NM_000527.5(LDLR):c.30G>A (p.Trp10Ter)	LDLR, LDLR-AS1 (W10*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 250977	NM_000527.5(LDLR):c.33_36dup (p.Ala13fs)	LDLR-AS1, LDLR (A13fs)	Duplication (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250979	NM_000527.5(LDLR):c.41dup (p.Leu14fs)	LDLR, LDLR-AS1 (L14fs)	Duplication (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 250978	NM_000527.5(LDLR):c.41del (p.Leu14fs)	LDLR, LDLR-AS1 (L14fs)	Deletion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 664091	NM_000527.5(LDLR):c.41T>A (p.Leu14Ter)	LDLR, LDLR-AS1 (L14*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GPathogenic
Select item 1436912	NM_000527.5(LDLR):c.44T>G (p.Leu15Arg)	LDLR, LDLR-AS1 (L15R)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely pathogenic
Select item 250981	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	LDLR, LDLR-AS1 (L15P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 1067553	NM_000527.5(LDLR):c.67+1dup	LDLR, LDLR-AS1	Duplication (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely pathogenic
Select item 441175	NM_000527.5(LDLR):c.67+1G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 431507	NM_000527.5(LDLR):c.67+1G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 3710	FH French Canadian 5	LOC126862856, LDLR +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250987	NM_000527.5(LDLR):c.67+2T>A	LDLR, LDLR-AS1	Single nucleotide variant (splice donor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 250989	NM_000527.4(LDLR):c.67+3968_940+296dup	LDLR, LOC126862856	Duplication	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 250990	c.67+4761_818-332del	LDLR, LOC126862856	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 651247	NC_000019.10:g.(?_11100203)_(11107534_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 456644	NC_000019.9:g.(?_11210879)_(11222335_?)dup	LDLR	Duplication	Familial hypercholesterolemia +1 more	GPathogenic
Select item 456642	NC_000019.10:g.(?_11100203)_(11102806_?)del	LDLR	Deletion	Familial hypercholesterolemia +1 more	GPathogenic
Select item 663429	NC_000019.10:g.(?_11100213)_(11102796_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 662848	NC_000019.10:g.(?_11100213)_(11117013_?)del	LDLR, MIR6886	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 650699	NC_000019.10:g.(?_11100213)_(11107528_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 250991	NM_000527.5(LDLR):c.68-5_68-2del	LDLR	Deletion (splice acceptor variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 250993	NM_000527.5(LDLR):c.68-2A>T	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 250992	NM_000527.5(LDLR):c.68-2A>G	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 548101	GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1	LDLR	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 369858	NM_000527.5(LDLR):c.68-1G>A	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251005	NM_000527.5(LDLR):c.68-1G>C	LDLR	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 440539	NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251008	NM_000527.5(LDLR):c.77_78del (p.Arg26fs)	LDLR (R26fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251007	NM_000527.5(LDLR):c.76del (p.Arg26fs)	LDLR (R26fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251006	NM_000527.5(LDLR):c.76A>T (p.Arg26Ter)	LDLR (R26*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 921285	NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg)	LDLR (C27R)	Indel (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 440540	NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)	LDLR (C27R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 251009	NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)	LDLR (C27*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 226304	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR (C27W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226305	NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)	LDLR (E28*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251011	NM_000527.5(LDLR):c.85A>T (p.Arg29Ter)	LDLR (R29*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 2773491	NM_000527.5(LDLR):c.86del (p.Arg29fs)	LDLR (R115fs +1 more)	Deletion (frameshift variant)	Familial hypercholesterolemia	GPathogenic
Select item 440541	NM_000527.5(LDLR):c.90_91insTGTGTTT (p.Glu31delinsCysValTer)	LDLR	Insertion (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 441176	NM_000527.5(LDLR):c.91_104del (p.Glu31fs)	LDLR (E31fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251014	NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)	LDLR (E31*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 251015	NM_000527.5(LDLR):c.93_99del (p.Glu31fs)	LDLR (E31fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251016	NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)	LDLR (F32C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1455072	NM_000527.5(LDLR):c.97_115del (p.Gln33fs)	LDLR (Q33fs)	Deletion (frameshift variant)	Familial hypercholesterolemia	GPathogenic
Select item 3683	NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)	LDLR (Q33*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251017	NM_000527.5(LDLR):c.99del (p.Gln33fs)	LDLR (Q33fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251018	NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)	LDLR (C34G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 251019	NM_000527.5(LDLR):c.101G>C (p.Cys34Ser)	LDLR (C34S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1321217	NM_000527.5(LDLR):c.103del (p.Gln35fs)	LDLR (Q35fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120248	NM_000527.5(LDLR):c.102C>G (p.Cys34Trp)	LDLR (C34W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251020	NM_000527.5(LDLR):c.102C>A (p.Cys34Ter)	LDLR (C34*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251021	NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)	LDLR (Q35*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 438316	NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1685923	NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)	LDLR (D36Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic

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