3949[Gene ID] - 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 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	NC_000019.10:g.11089263C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250925	NC_000019.10:g.11089281G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	GBenign/Likely benign
Select item 2804877	NC_000019.10:g.11089319del	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	NC_000019.10:g.11089321G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 523732	NC_000019.10:g.11089322G>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 3071602	NC_000019.10:g.11089329A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 923104	NC_000019.10:g.11089332C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250927	NC_000019.10:g.11089332C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 3071820	NC_000019.10:g.11089334A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2084239	NC_000019.10:g.11089334A>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 250928	NC_000019.10:g.11089334A>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 250929	NC_000019.10:g.11089341A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 1898664	NC_000019.10:g.11089342T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 226301	NC_000019.10:g.11089343C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 924808	NC_000019.10:g.11089344G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GLikely benign
Select item 3075142	NC_000019.10:g.11089346C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074992	NC_000019.10:g.11089351del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 921994	NC_000019.10:g.11089352G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 3072588	NC_000019.10:g.11089356C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
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	NG_009060.1(LDLR):g.4976CTC[2]	LDLR, LDLR-AS1	Microsatellite (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250930	NC_000019.10:g.11089356_11089363delinsTG	LDLR, LDLR-AS1	Indel (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 918315	NC_000019.10:g.11089358C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	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	NC_000019.10:g.11089362C>T	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	NC_000019.10:g.11089364_11089366del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3070846	NC_000019.10:g.11089364C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 2155091	NC_000019.10:g.11089371T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 3075090	NC_000019.10:g.11089372G>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	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	NC_000019.10:g.11089383A>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	NC_000019.10:g.11089391A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250942	NC_000019.10:g.11089393C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 375770	NM_000527.4(LDLR):c.-155_-150delACCCCA	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 250943	NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT	LDLR-AS1, LDLR	Indel (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 250944	NC_000019.10:g.11089396C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 250945	NC_000019.10:g.11089397C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 2804189	NC_000019.10:g.11089398C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
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	NC_000019.10:g.11089400C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250947	NC_000019.10:g.11089403C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 430742	NC_000019.10:g.11089407C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250948	NC_000019.10:g.11089407C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 919994	NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC	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-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250949	NC_000019.10:g.11089409C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226300	NC_000019.10:g.11089409C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1331894	NC_000019.10:g.11089410C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250951	NC_000019.10:g.11089410C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 250950	NC_000019.10:g.11089410C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 250952	NC_000019.10:g.11089411T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3745	NC_000019.10:g.11089411del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 250953	NC_000019.10:g.11089412C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 1426080	NC_000019.10:g.11089413C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250955	NC_000019.10:g.11089413C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 250954	NC_000019.10:g.11089413C>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	NC_000019.10:g.11089414C>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 3071576	NC_000019.10:g.11089421A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 375771	NM_000527.4(LDLR):c.-124dup	LDLR, LDLR-AS1	Duplication (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3070314	NC_000019.10:g.11089426C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
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	NC_000019.10:g.11089427C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	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	NC_000019.10:g.11089429C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3074508	NC_000019.10:g.11089430A>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3074366	NC_000019.10:g.11089432A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
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	NC_000019.10:g.11089434T>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	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 3074435	NC_000019.10:g.11089446A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 927138	NC_000019.10:g.11089447A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250957	NC_000019.10:g.11089448T>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	NC_000019.10:g.11089452G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign

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