"LDLR-LOVD, British Heart Foundation"[submitter] AND "LDLR-AS1"[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 250924	NM_000527.4(LDLR):c.-1823_190+566del	LOC126862856, LDLR +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
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 250926	NM_000527.4(LDLR):c.-221_-220insA	LDLR, LDLR-AS1	Duplication	Hypercholesterolemia, familial, 1	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 250928	NC_000019.10:g.11089334A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 250929	NC_000019.10:g.11089341A>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 226301	NC_000019.10:g.11089343C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 250930	NC_000019.10:g.11089356_11089363delinsTG	LDLR, LDLR-AS1	Indel (non-coding transcript variant)	Hypercholesterolemia, familial, 1	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 250941	NC_000019.10:g.11089364_11089366del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
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 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, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 250945	NC_000019.10:g.11089397C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
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 250948	NC_000019.10:g.11089407C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
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)	LDLR-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 250951	NC_000019.10:g.11089410C>G	LDLR, LDLR-AS1	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)	Familial hypercholesterolemia +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 250955	NC_000019.10:g.11089413C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 250954	NC_000019.10:g.11089413C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250956	NC_000019.10:g.11089414C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
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 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 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 250958	NC_000019.10:g.11089461G>A	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
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 250960	NM_000527.5(LDLR):c.-36T>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 250961	NM_000527.5(LDLR):c.-23A>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 250962	NM_000527.5(LDLR):c.-22del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 250963	NM_000527.5(LDLR):c.-14C>A	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 250964	NM_000527.5(LDLR):c.-13A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GBenign/Likely benign
Select item 250965	NM_000527.5(LDLR):c.-5C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
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 (missense 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 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 250971	NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)	LDLR, LDLR-AS1 (G2R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250970	NM_000527.5(LDLR):c.4G>A (p.Gly2Arg)	LDLR, LDLR-AS1 (G2R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
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)	Cardiovascular phenotype +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 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)	Cardiovascular phenotype +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 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 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 250980	NM_000527.5(LDLR):c.44T>A (p.Leu15His)	LDLR-AS1, LDLR (L15H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250982	NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)	LDLR, LDLR-AS1 (L16P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250983	NM_000527.5(LDLR):c.48C>A (p.Leu16=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 250985	NM_000527.5(LDLR):c.56C>T (p.Ala19Val)	LDLR, LDLR-AS1 (A19V)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 250984	NM_000527.5(LDLR):c.56C>A (p.Ala19Glu)	LDLR, LDLR-AS1 (A19E)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 161272	NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	LDLR, LDLR-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GBenign 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 3712	FH Vancouver 4	LDLR, LDLR-AS1 +2 more	Deletion	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
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 (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 250921	NG_009060.1(LDLR):g.[27134_32618del5485;4982_15965del10984]	LDLR, MIR6886 +3 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic

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Items: 66