ClinVar for Gene (Select 26119) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3537774	NM_015627.3(LDLRAP1):c.20C>A (p.Ala7Glu)	LDLRAP1, LOC129929773 (A7E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537772	NM_015627.3(LDLRAP1):c.105G>C (p.Trp35Cys)	LDLRAP1 (W35C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537771	NM_015627.3(LDLRAP1):c.648G>A (p.Glu216=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3537770	NM_015627.3(LDLRAP1):c.791A>G (p.Gln264Arg)	LDLRAP1 (Q264R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537769	NM_015627.3(LDLRAP1):c.385T>C (p.Phe129Leu)	LDLRAP1 (F129L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537768	NM_015627.3(LDLRAP1):c.830C>T (p.Thr277Ile)	LDLRAP1 (T277I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3537767	NM_015627.3(LDLRAP1):c.370A>G (p.Met124Val)	LDLRAP1 (M124V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537765	NM_015627.3(LDLRAP1):c.26G>A (p.Arg9Gln)	LDLRAP1, LOC129929773 (R9Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537764	NM_015627.3(LDLRAP1):c.766G>A (p.Asp256Asn)	LDLRAP1 (D256N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537763	NM_015627.3(LDLRAP1):c.345G>C (p.Arg115Ser)	LDLRAP1 (R115S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537762	NM_015627.3(LDLRAP1):c.797G>T (p.Arg266Leu)	LDLRAP1 (R266L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3537761	NM_015627.3(LDLRAP1):c.602C>T (p.Pro201Leu)	LDLRAP1 (P201L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3393019	NM_015627.3(LDLRAP1):c.765G>C (p.Leu255=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 3393018	NM_015627.3(LDLRAP1):c.558C>T (p.Ser186=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 3393017	NM_015627.3(LDLRAP1):c.12C>G (p.Leu4=)	LOC129929773, LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 3384978	NM_015627.3(LDLRAP1):c.281C>A (p.Pro94Gln)	LDLRAP1 (P94Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3379509	NM_015627.3(LDLRAP1):c.466G>A (p.Ala156Thr)	LDLRAP1 (A156T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379504	NM_015627.3(LDLRAP1):c.145A>G (p.Ser49Gly)	LDLRAP1 (S49G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378131	NM_015627.3(LDLRAP1):c.438C>G (p.Phe146Leu)	LDLRAP1 (F146L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366849	NM_015627.3(LDLRAP1):c.842T>A (p.Met281Lys)	LDLRAP1 (M281K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366742	NM_015627.3(LDLRAP1):c.348C>T (p.Ile116=)	LDLRAP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3366322	NM_015627.3(LDLRAP1):c.-10G>A	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3339322	NM_015627.3(LDLRAP1):c.287G>A (p.Gly96Glu)	LDLRAP1 (G96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290421	NM_015627.3(LDLRAP1):c.737G>C (p.Ser246Thr)	LDLRAP1 (S246T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290420	NM_015627.3(LDLRAP1):c.877G>T (p.Asp293Tyr)	LDLRAP1 (D293Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290419	NM_015627.3(LDLRAP1):c.99G>A (p.Glu33=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3290417	NM_015627.3(LDLRAP1):c.116G>C (p.Arg39Pro)	LDLRAP1 (R39P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290416	NM_015627.3(LDLRAP1):c.137T>C (p.Met46Thr)	LDLRAP1 (M46T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290415	NM_015627.3(LDLRAP1):c.844C>G (p.His282Asp)	LDLRAP1 (H282D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290414	NM_015627.3(LDLRAP1):c.556A>G (p.Ser186Gly)	LDLRAP1 (S186G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3251796	NM_015627.3(LDLRAP1):c.490G>T (p.Ala164Ser)	LDLRAP1 (A164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248628	NM_015627.3(LDLRAP1):c.459+22G>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GBenign
Select item 3247773	NC_000001.10:g.(?_25889115)_(25889664_?)del	LDLRAP1	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 3247772	NC_000001.10:g.(?_25883624)_(25883778_?)del	LDLRAP1	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 3247771	NC_000001.10:g.(?_25870190)_(25870297_?)del	LDLRAP1	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 3233863	NM_015627.3(LDLRAP1):c.283C>T (p.Arg95Trp)	LDLRAP1 (R95W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3233680	NM_015627.3(LDLRAP1):c.428G>A (p.Cys143Tyr)	LDLRAP1 (C143Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226705	NM_015627.3(LDLRAP1):c.880A>G (p.Lys294Glu)	LDLRAP1 (K294E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226704	NM_015627.3(LDLRAP1):c.822T>A (p.Thr274=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3226703	NM_015627.3(LDLRAP1):c.674C>T (p.Thr225Met)	LDLRAP1 (T225M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226702	NM_015627.3(LDLRAP1):c.643T>G (p.Leu215Val)	LDLRAP1 (L215V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226701	NM_015627.3(LDLRAP1):c.604T>G (p.Ser202Ala)	LDLRAP1 (S202A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3226700	NM_015627.3(LDLRAP1):c.475C>T (p.Leu159Phe)	LDLRAP1 (L159F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226699	NM_015627.3(LDLRAP1):c.407A>G (p.Gln136Arg)	LDLRAP1 (Q136R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226698	NM_015627.3(LDLRAP1):c.380A>G (p.Lys127Arg)	LDLRAP1 (K127R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3226697	NM_015627.3(LDLRAP1):c.344+5G>A	LDLRAP1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3118294	NM_015627.3(LDLRAP1):c.703G>A (p.Glu235Lys)	LDLRAP1 (E235K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3118293	NM_015627.3(LDLRAP1):c.51G>T (p.Leu17Phe)	LDLRAP1, LOC129929773 (L17F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3029177	NM_015627.3(LDLRAP1):c.-29G>C	LDLRAP1, LOC129929773	Single nucleotide variant (5 prime UTR variant)	LDLRAP1-related disorder	GLikely benign
Select item 3023269	NM_015627.3(LDLRAP1):c.912C>T (p.Asp304=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 3016595	NM_015627.3(LDLRAP1):c.748-8del	LDLRAP1	Deletion (intron variant)	Hypercholesterolemia, familial, 4	GBenign
Select item 3009688	NM_015627.3(LDLRAP1):c.782+19G>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 3007092	NM_015627.3(LDLRAP1):c.198G>C (p.Leu66=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 3006185	NM_015627.3(LDLRAP1):c.462A>G (p.Ala154=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2998516	NM_015627.3(LDLRAP1):c.782+11C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2994776	NM_015627.3(LDLRAP1):c.532+1G>A	LDLRAP1	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 4	GLikely pathogenic
Select item 2994074	NM_015627.3(LDLRAP1):c.533-4G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2989500	NM_015627.3(LDLRAP1):c.748-15T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2981857	NM_015627.3(LDLRAP1):c.89-14C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2980302	NM_015627.3(LDLRAP1):c.327G>A (p.Glu109=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2976227	NM_015627.3(LDLRAP1):c.344+2T>C	LDLRAP1	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 4	GLikely pathogenic
Select item 2975763	NM_015627.3(LDLRAP1):c.617-14C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2974639	NM_015627.3(LDLRAP1):c.782+10G>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2973580	NM_015627.3(LDLRAP1):c.783-17A>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2971615	NM_015627.3(LDLRAP1):c.533-18T>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2968726	NM_015627.3(LDLRAP1):c.344+12A>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2965611	NM_015627.3(LDLRAP1):c.345-13C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2964270	NM_015627.3(LDLRAP1):c.783-16C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2959839	NM_015627.3(LDLRAP1):c.459+13G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2958959	NM_015627.3(LDLRAP1):c.132G>A (p.Glu44=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2955478	NM_015627.3(LDLRAP1):c.616+20G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2920487	NM_015627.3(LDLRAP1):c.748-20C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2920263	NM_015627.3(LDLRAP1):c.459+19G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2919647	NM_015627.3(LDLRAP1):c.89-13T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2911851	NM_015627.3(LDLRAP1):c.345-16C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2911443	NM_015627.3(LDLRAP1):c.89-20C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2910083	NM_015627.3(LDLRAP1):c.232-13G>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2908259	NM_015627.3(LDLRAP1):c.532+13A>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2899716	NM_015627.3(LDLRAP1):c.813C>T (p.Val271=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2895950	NM_015627.3(LDLRAP1):c.864G>C (p.Ser288=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2888476	NM_015627.3(LDLRAP1):c.253C>G (p.Leu85Val)	LDLRAP1 (L85V)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +1 more	GUncertain significance
Select item 2886792	NM_015627.3(LDLRAP1):c.747+16G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2879761	NM_015627.3(LDLRAP1):c.9G>A (p.Ala3=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2873780	NM_015627.3(LDLRAP1):c.459+11A>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2869732	NM_015627.3(LDLRAP1):c.88+18_88+22dup	LDLRAP1, LOC129929773	Duplication (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2867437	NM_015627.3(LDLRAP1):c.344+12A>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2867421	NM_015627.3(LDLRAP1):c.616+14G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2867023	NM_015627.3(LDLRAP1):c.232-20G>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2866839	NM_015627.3(LDLRAP1):c.460-10del	LDLRAP1	Deletion (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2864709	NM_015627.3(LDLRAP1):c.270G>A (p.Leu90=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2862811	NM_015627.3(LDLRAP1):c.459+20G>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2856607	NM_015627.3(LDLRAP1):c.88+17C>T	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2856023	NM_015627.3(LDLRAP1):c.232-7T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2855236	NM_015627.3(LDLRAP1):c.148del (p.Leu50fs)	LDLRAP1 (L50fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2855019	NM_015627.3(LDLRAP1):c.237G>A (p.Lys79=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2850621	NM_015627.3(LDLRAP1):c.58C>T (p.Gln20Ter)	LDLRAP1, LOC129929773 (Q20*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2849511	NM_015627.3(LDLRAP1):c.9G>T (p.Ala3=)	LDLRAP1, LOC129929773	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2848573	NM_015627.3(LDLRAP1):c.783-7C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2847315	NM_015627.3(LDLRAP1):c.616+8C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2843135	NM_015627.3(LDLRAP1):c.532+20T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign

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