"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LDLR-AS1"[ge - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 924808	NC_000019.10:g.11089344G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GLikely benign
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 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 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 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 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 430742	NC_000019.10:g.11089407C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
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 1331894	NC_000019.10:g.11089410C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250956	NC_000019.10:g.11089414C>G	LDLR-AS1, LDLR	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 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)	Familial hypercholesterolemia +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 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 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 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 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	NC_000019.10:g.11089452G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 924993	NC_000019.10:g.11089455G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 2773487	NC_000019.10:g.11089460C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia	GUncertain significance
Select item 250958	NC_000019.10:g.11089461G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
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 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 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, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 1332490	NM_000527.5(LDLR):c.-26G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 923045	NM_000527.5(LDLR):c.-23A>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
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 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 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 925039	NM_000527.5(LDLR):c.27C>T (p.Arg9=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
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 926076	NM_000527.5(LDLR):c.42G>C (p.Leu14Phe)	LDLR-AS1, LDLR (L14F)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 921122	NM_000527.5(LDLR):c.45C>T (p.Leu15=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
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 significance FDA Recognized database
Select item 924946	NM_000527.5(LDLR):c.54G>C (p.Ala18=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
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	GUncertain significance
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 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 631358	NM_000527.5(LDLR):c.59G>A (p.Gly20Glu)	LDLR, LDLR-AS1 (G20E)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1172187	NM_000527.5(LDLR):c.60G>A (p.Gly20=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
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 919462	NM_000527.5(LDLR):c.67+5G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2160897	NM_000527.5(LDLR):c.67+6G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 924933	NM_000527.5(LDLR):c.67+6G>A	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 235625	NM_000527.5(LDLR):c.67+18C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign

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Items: 58