"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 250927	NC_000019.10:g.11089332C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GBenignFDA Recognized database
Select item 3386963	NC_000019.10:g.11089333G>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
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-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 3386964	NC_000019.10:g.11089335T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
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-AS1, LDLR	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 438314	NG_009060.1(LDLR):g.4976CTC[2]	LDLR, LDLR-AS1	Microsatellite (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significanceFDA Recognized database
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 237861	NM_000527.5(LDLR):c.-188C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significanceFDA Recognized database
Select item 3070846	NC_000019.10:g.11089364C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075090	NC_000019.10:g.11089372G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	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 significanceFDA Recognized database
Select item 250944	NC_000019.10:g.11089396C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +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)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 3386965	NC_000019.10:g.11089401T>C	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 250951	NC_000019.10:g.11089410C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
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 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 3386966	NC_000019.10:g.11089420T>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	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 3070314	NC_000019.10:g.11089426C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	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)	Familial hypercholesterolemia +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 significanceFDA Recognized database
Select item 3074508	NC_000019.10:g.11089430A>C	LDLR-AS1, LDLR	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 926257	NC_000019.10:g.11089434T>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	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)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 250957	NC_000019.10:g.11089448T>C	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significanceFDA Recognized database
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
Select item 430743	NC_000019.10:g.11089452G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significanceFDA Recognized database
Select item 3072040	NC_000019.10:g.11089455G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 924993	NC_000019.10:g.11089455G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 250958	NC_000019.10:g.11089461G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3386967	NM_000527.5(LDLR):c.-84G>A	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1809565	NM_000527.5(LDLR):c.-80T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3386969	NM_000527.5(LDLR):c.-75G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3386968	NM_000527.5(LDLR):c.-75G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3071008	NM_000527.5(LDLR):c.-63T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 922730	NM_000527.5(LDLR):c.-55_-52del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 3386970	NM_000527.5(LDLR):c.-47G>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3070055	NM_000527.5(LDLR):c.-46C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3070658	NM_000527.5(LDLR):c.-36T>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3070896	NM_000527.5(LDLR):c.-25A>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 923045	NM_000527.5(LDLR):c.-23A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 3071153	NM_000527.5(LDLR):c.-18C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3386971	NM_000527.5(LDLR):c.-17T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3386972	NM_000527.5(LDLR):c.-16G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3386973	NM_000527.5(LDLR):c.-13dup	LDLR-AS1, LDLR	Duplication (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072598	NM_000527.5(LDLR):c.-4G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3071388	NM_000527.5(LDLR):c.7C>A (p.Pro3Thr)	LDLR, LDLR-AS1 (P3T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 919564	NM_000527.5(LDLR):c.46C>G (p.Leu16Val)	LDLR, LDLR-AS1 (L16V)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significanceFDA 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 benignFDA Recognized database
Select item 3070605	NM_000527.5(LDLR):c.49G>A (p.Ala17Thr)	LDLR, LDLR-AS1 (A17T)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3386974	NM_000527.5(LDLR):c.53C>A (p.Ala18Glu)	LDLR, LDLR-AS1 (A18E)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1171603	NM_000527.5(LDLR):c.56C>G (p.Ala19Gly)	LDLR, LDLR-AS1 (A19G)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 250985	NM_000527.5(LDLR):c.56C>T (p.Ala19Val)	LDLR-AS1, LDLR (A19V)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 1172187	NM_000527.5(LDLR):c.60G>A (p.Gly20=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 3073066	NM_000527.5(LDLR):c.64_65insTCG (p.Thr21_Ala22insVal)	LDLR, LDLR-AS1	Insertion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 630382	NM_000527.5(LDLR):c.64G>T (p.Ala22Ser)	LDLR, LDLR-AS1 (A22S)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
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 1571968	NM_000527.5(LDLR):c.68-9C>G	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3386975	NM_000527.5(LDLR):c.69G>A (p.Val23=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 754951	NM_000527.5(LDLR):c.72C>T (p.Gly24=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +2 more	GLikely benign
Select item 922750	NM_000527.5(LDLR):c.73G>A (p.Asp25Asn)	LDLR (D25N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GUncertain significance
Select item 3069638	NM_000527.5(LDLR):c.77G>A (p.Arg26Lys)	LDLR (R112K +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3386976	NM_000527.5(LDLR):c.78A>T (p.Arg26Ser)	LDLR (R112S +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 226304	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR (C27W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenicFDA Recognized database
Select item 453084	NM_000527.5(LDLR):c.90C>G (p.Asn30Lys)	LDLR (N30K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 251013	NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)	LDLR (E31K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 929013	NM_000527.5(LDLR):c.95T>C (p.Phe32Ser)	LDLR (F32S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GUncertain significance
Select item 1130782	NM_000527.5(LDLR):c.96C>T (p.Phe32=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 3683	NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)	LDLR (Q33*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenicFDA Recognized database
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 1925297	NM_000527.5(LDLR):c.102C>T (p.Cys34=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 440542	NM_000527.5(LDLR):c.108C>T (p.Asp36=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +3 more	GLikely benign
Select item 925748	NM_000527.5(LDLR):c.109G>A (p.Gly37Arg)	LDLR (G37R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 3386977	NM_000527.5(LDLR):c.111G>A (p.Gly37=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 441177	NM_000527.5(LDLR):c.118A>G (p.Ile40Val)	LDLR (I40V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 926987	NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys)	LDLR (Y42C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 3741	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	LDLR (W44*)	Single nucleotide variant (nonsense)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251034	NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)	LDLR (D47N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significanceFDA Recognized database
Select item 3386978	NM_000527.5(LDLR):c.141T>C (p.Asp47=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 924603	NM_000527.5(LDLR):c.147C>T (p.Ser49=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +3 more	GLikely benign
Select item 251037	NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)	LDLR (A50T)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 68099	NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	LDLR (A50S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +5 more	GConflicting classifications of pathogenicity
Select item 491661	NM_000527.5(LDLR):c.150T>C (p.Ala50=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 923931	NM_000527.5(LDLR):c.153G>C (p.Glu51Asp)	LDLR (E51D)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 3073808	NM_000527.5(LDLR):c.161A>T (p.Asp54Val)	LDLR (D140V +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 369857	NM_000527.5(LDLR):c.165C>G (p.Gly55=)	LDLR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2433423	NM_000527.5(LDLR):c.176C>T (p.Ser59Phe)	LDLR (S145F +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 1083029	NM_000527.5(LDLR):c.183G>A (p.Glu61=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 700381	NM_000527.5(LDLR):c.186G>A (p.Thr62=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 225097	NM_000527.5(LDLR):c.190+4A>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenicFDA Recognized database

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