3949[geneid] - 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	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	ANGPTL6, AP1M2 +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	LOC130063636, LOC130063637 +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 684564	NM_000527.4(LDLR):c.-2038C>T	LDLR	Single nucleotide variant	Hypercholesterolemia, familial, 1	GBenign
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 430740	NM_000527.4(LDLR):c.-286C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250925	NM_000527.4(LDLR):c.-268G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GBenign/Likely benign
Select item 2804877	NR_163945.1(LDLR-AS1):n.341del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 430741	NM_000527.4(LDLR):c.-229_-90del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 431505	NM_000527.4(LDLR):c.-228G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 523732	NM_000527.4(LDLR):c.-227G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 250926	NM_000527.4(LDLR):c.-221_-220insA	LDLR, LDLR-AS1	Duplication	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 923104	NR_163945.1(LDLR-AS1):n.328G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250927	NM_000527.4(LDLR):c.-217C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 2084239	NR_163945.1(LDLR-AS1):n.326T>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250928	NM_000527.4(LDLR):c.-215A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 250929	NM_000527.4(LDLR):c.-208A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 1898664	NR_163945.1(LDLR-AS1):n.318A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 226301	NM_000527.4(LDLR):c.-206C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 924808	NR_163945.1(LDLR-AS1):n.316C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GLikely benign
Select item 921994	NR_163945.1(LDLR-AS1):n.308C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GLikely benign
Select item 440531	NM_000527.4(LDLR):c.-193_-187delinsTG	LDLR, LDLR-AS1	Indel (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 438314	NM_000527.4(LDLR):c.-187_-185del	LDLR, LDLR-AS1	Microsatellite (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 250930	NR_163945.1(LDLR-AS1):n.297_304delinsCA	LDLR-AS1, LDLR	Indel (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 918315	NR_163945.1(LDLR-AS1):n.302G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 990075	NM_000527.5(LDLR):c.-190C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 237861	NM_000527.5(LDLR):c.-188C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1384164	NR_163945.1(LDLR-AS1):n.298G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
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 264667	Single allele	LOC126862856, LDLR +2 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 2155091	NM_000527.4(LDLR):c.-178T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 440532	NM_000527.4(LDLR):c.-172G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 921881	NM_000527.4(LDLR):c.-169G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
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 2144208	NM_000527.4(LDLR):c.-166A>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 918511	NM_000527.4(LDLR):c.-166A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GLikely benign
Select item 1171900	NM_000527.4(LDLR):c.-162G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2106263	NM_000527.4(LDLR):c.-158A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250942	NM_000527.4(LDLR):c.-156C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
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 250943	NR_163945.1(LDLR-AS1):n.265_266delinsAGGAGTTTGCAGAA	LDLR, LDLR-AS1	Indel (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 250944	NM_000527.4(LDLR):c.-153C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 250945	NM_000527.4(LDLR):c.-152C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2804189	NM_000527.4(LDLR):c.-151C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	LDLR-related condition +1 more	GConflicting classifications of pathogenicity
Select item 440533	NM_000527.4(LDLR):c.-151C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440534	NM_000527.4(LDLR):c.-150A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250946	NM_000527.4(LDLR):c.-149C>A	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250947	NM_000527.4(LDLR):c.-146C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 430742	NM_000527.4(LDLR):c.-142C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250948	NM_000527.4(LDLR):c.-142C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 919994	NM_000527.4(LDLR):c.-139_-130del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Familial hypercholesterolemia	GConflicting classifications of pathogenicity
Select item 403628	NM_000527.4(LDLR):c.-140C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250949	NM_000527.4(LDLR):c.-140C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226300	NM_000527.4(LDLR):c.-140C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	LDLR-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1331894	NM_000527.4(LDLR):c.-139C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250951	NM_000527.4(LDLR):c.-139C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 250950	NR_163945.1(LDLR-AS1):n.250G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 250952	NM_000527.4(LDLR):c.-138T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3745	NM_000527.4(LDLR):c.-138del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 250953	NR_163945.1(LDLR-AS1):n.248G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 1426080	NR_163945.1(LDLR-AS1):n.247G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250955	NM_000527.4(LDLR):c.-136C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 250954	NM_000527.4(LDLR):c.-136C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 523720	NM_000527.4(LDLR):c.-135C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 250956	NM_000527.4(LDLR):c.-135C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 919616	NM_000527.4(LDLR):c.-133C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 375771	NM_000527.4(LDLR):c.-124dup	LDLR-AS1, LDLR	Duplication (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 919399	NM_000527.4(LDLR):c.-122C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 630659	NM_000527.4(LDLR):c.-122C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GLikely benign
Select item 226302	NM_000527.5(LDLR):c.-121T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 927842	NM_000527.4(LDLR):c.-120C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 226299	NM_000527.4(LDLR):c.-120C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1163619	NM_000527.4(LDLR):c.-116T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 926257	NM_000527.4(LDLR):c.-115T>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 628648	NM_000527.4(LDLR):c.-107T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 927138	NM_000527.4(LDLR):c.-102A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250957	NM_000527.4(LDLR):c.-101T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
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 927702	NM_000527.4(LDLR):c.-97G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GLikely benign
Select item 892549	NM_000527.4(LDLR):c.-97G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 430743	NM_000527.4(LDLR):c.-97G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 924993	NM_000527.4(LDLR):c.-94G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2773487	NM_000527.4(LDLR):c.-89C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250958	NM_000527.4(LDLR):c.-88G>A	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1809565	NM_000527.5(LDLR):c.-80T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2773488	NM_000527.5(LDLR):c.-74del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 250959	NM_000527.5(LDLR):c.-68A>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2719542	NM_000527.5(LDLR):c.-56T>C	LDLR, LDLR-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 922730	NM_000527.5(LDLR):c.-55_-52del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2773489	NM_000527.5(LDLR):c.-48A>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 1172259	NM_000527.5(LDLR):c.-45A>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance

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