ClinVar for MedGen (Select 400313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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
Select item 2840858	NM_015627.3(LDLRAP1):c.616+8C>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2835248	NM_015627.3(LDLRAP1):c.516G>A (p.Trp172Ter)	LDLRAP1 (W172*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2832489	NM_015627.3(LDLRAP1):c.105G>A (p.Trp35Ter)	LDLRAP1 (W35*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2831407	NM_015627.3(LDLRAP1):c.442_443del (p.Cys148fs)	LDLRAP1 (C148fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2831131	NM_015627.3(LDLRAP1):c.135G>T (p.Gly45=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2827162	NM_015627.3(LDLRAP1):c.344+20G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2826859	NM_015627.3(LDLRAP1):c.460-8G>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2826274	NM_015627.3(LDLRAP1):c.696C>T (p.Asn232=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2819989	NM_015627.3(LDLRAP1):c.616+12C>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2817883	NM_015627.3(LDLRAP1):c.441C>T (p.Leu147=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2804597	NM_015627.3(LDLRAP1):c.178C>T (p.Gln60Ter)	LDLRAP1 (Q60*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2803484	NM_015627.3(LDLRAP1):c.460-17C>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2800206	NM_015627.3(LDLRAP1):c.918C>T (p.Phe306=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2798230	NM_015627.3(LDLRAP1):c.617-13G>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2795212	NM_015627.3(LDLRAP1):c.88+14C>A	LDLRAP1, LOC129929773	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2790272	NM_015627.3(LDLRAP1):c.748-16C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2789329	NM_015627.3(LDLRAP1):c.466del (p.Ala156fs)	LDLRAP1 (A156fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2771215	NM_015627.3(LDLRAP1):c.231+9C>G	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2771084	NM_015627.3(LDLRAP1):c.747+7G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2770306	NM_015627.3(LDLRAP1):c.483A>T (p.Val161=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2770122	NM_015627.3(LDLRAP1):c.900A>G (p.Thr300=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2768242	NM_015627.3(LDLRAP1):c.344+15G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2761502	NM_015627.3(LDLRAP1):c.264G>T (p.Val88=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2759061	NM_015627.3(LDLRAP1):c.828G>T (p.Leu276=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2756895	NM_015627.3(LDLRAP1):c.303C>T (p.Asp101=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2748747	NM_015627.3(LDLRAP1):c.600C>A (p.Thr200=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2745685	NM_015627.3(LDLRAP1):c.88+19GCCGG[4]	LDLRAP1, LOC129929773	Microsatellite (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2744398	NM_015627.3(LDLRAP1):c.405C>T (p.Ser135=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4 +1 more	GLikely benign
Select item 2742064	NM_015627.3(LDLRAP1):c.89-6C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2741552	NM_015627.3(LDLRAP1):c.747+9T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2741323	NM_015627.3(LDLRAP1):c.782+19G>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2739817	NM_015627.3(LDLRAP1):c.232-13G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2739316	NM_015627.3(LDLRAP1):c.591A>G (p.Gln197=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2732605	NM_015627.3(LDLRAP1):c.747+12T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2731688	NM_015627.3(LDLRAP1):c.616+13G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2730966	NM_015627.3(LDLRAP1):c.617-20C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2725858	NM_015627.3(LDLRAP1):c.231+17G>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2725817	NM_015627.3(LDLRAP1):c.459+15C>T	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2725541	NM_015627.3(LDLRAP1):c.459+19G>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2721111	NM_015627.3(LDLRAP1):c.345-14T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GBenign
Select item 2720637	NM_015627.3(LDLRAP1):c.459+16T>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2719197	NM_015627.3(LDLRAP1):c.198G>A (p.Leu66=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2713982	NM_015627.3(LDLRAP1):c.89-14del	LDLRAP1	Deletion (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2713941	NM_015627.3(LDLRAP1):c.783-15A>C	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2713269	NM_015627.3(LDLRAP1):c.816G>A (p.Leu272=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2710135	NM_015627.3(LDLRAP1):c.617-20C>A	LDLRAP1	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 4	GLikely benign
Select item 2698048	NM_015627.3(LDLRAP1):c.567_570del (p.Gly190fs)	LDLRAP1 (G190fs)	Microsatellite (frameshift variant)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2697613	NM_015627.3(LDLRAP1):c.17C>A (p.Ser6Ter)	LDLRAP1, LOC129929773 (S6*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 4	GPathogenic
Select item 2693160	NM_015627.3(LDLRAP1):c.138G>T (p.Met46Ile)	LDLRAP1 (M46I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4	GUncertain significance

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