ClinVar for MedGen (Select 5688) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 4483

<< First< Prev

Page of 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3018826	NM_000527.5(LDLR):c.940+19G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 3018016	NM_000527.5(LDLR):c.313+15G>A	LDLR (A196T)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 3017165	NM_000527.5(LDLR):c.817+19G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 3015624	NM_000527.5(LDLR):c.2244C>T (p.Asp748=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 3015473	NM_000527.5(LDLR):c.1586+17C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 3014357	NM_000527.5(LDLR):c.190+20G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 3013238	NM_000527.5(LDLR):c.1011G>C (p.Glu337Asp)	LDLR (E169D +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 3012427	NM_000527.5(LDLR):c.1191C>A (p.Ser397=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 3006890	NM_000527.5(LDLR):c.1060+18C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 3004696	NM_000527.5(LDLR):c.1659C>T (p.Tyr553=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 3004683	NM_000527.5(LDLR):c.817+18G>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 3003606	NM_000527.5(LDLR):c.477C>T (p.Thr159=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 3002187	NM_000527.5(LDLR):c.552T>C (p.Cys184=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 3002051	NM_000527.5(LDLR):c.1471A>G (p.Thr491Ala)	LDLR (T323A +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2998618	NM_000527.5(LDLR):c.694+24dup	LDLR	Duplication (intron variant)	Familial hypercholesterolemia	GBenign
Select item 2998027	NM_000527.5(LDLR):c.2076C>G (p.Pro692=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2990628	NM_000527.5(LDLR):c.1143A>G (p.Glu381=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2990223	NM_000527.5(LDLR):c.2140+11C>G	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2989848	NM_000527.5(LDLR):c.509A>G (p.Asp170Gly)	LDLR (D129G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2989407	NM_000527.5(LDLR):c.1845+18G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2983267	NM_000527.5(LDLR):c.657C>G (p.Gly219=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2982407	NM_000527.5(LDLR):c.68-13T>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2980317	NM_000527.5(LDLR):c.1357A>G (p.Ser453Gly)	LDLR (S285G +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2976244	NM_000527.5(LDLR):c.68-12C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2974170	NM_000527.5(LDLR):c.817+13C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2972903	NM_000527.5(LDLR):c.902A>T (p.Asp301Val)	LDLR (D301V +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GPathogenic
Select item 2971852	NM_000527.5(LDLR):c.1708CTC[1] (p.Leu571del)	LDLR (L571del +3 more)	Microsatellite (inframe_deletion)	Familial hypercholesterolemia	GUncertain significance
Select item 2970795	NM_000527.5(LDLR):c.780C>T (p.Asp260=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2968679	NM_000527.5(LDLR):c.2312-14C>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2967425	NM_000527.5(LDLR):c.190+16G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2964763	NM_000527.5(LDLR):c.1061-14TC[3]	LDLR	Microsatellite (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2964275	NM_000527.5(LDLR):c.695-17T>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2963010	NM_000527.5(LDLR):c.2390-16G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2962430	NM_000527.5(LDLR):c.2389+11G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2957161	NM_000527.5(LDLR):c.1187-18C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2955491	NM_000527.5(LDLR):c.2379C>T (p.Val793=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2920066	NM_000527.5(LDLR):c.2140+15T>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2919631	NM_000527.5(LDLR):c.2386A>G (p.Ile796Val)	LDLR (I628V +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 2918484	NM_000527.5(LDLR):c.935A>G (p.Glu312Gly)	LDLR (E312G +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2917393	NM_000527.5(LDLR):c.1586+19G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2917212	NM_000527.5(LDLR):c.2334A>G (p.Arg778=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2917087	NM_000527.5(LDLR):c.2557G>C (p.Val853Leu)	LDLR (V851L +4 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2916773	NM_000527.5(LDLR):c.1307T>G (p.Val436Gly)	LDLR (V268G +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 2916637	NM_000527.5(LDLR):c.2547+17A>G	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2916506	NM_000527.5(LDLR):c.2547+13C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2916487	NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)	LDLR (M363T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2914931	NM_000527.5(LDLR):c.2314C>T (p.Leu772=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2913574	NM_000527.5(LDLR):c.1377C>T (p.Ala459=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2912195	NM_000527.5(LDLR):c.63T>G (p.Thr21=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2911838	NM_000527.5(LDLR):c.1359-6C>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2911824	NM_000527.5(LDLR):c.33C>G (p.Thr11=)	LDLR, LDLR-AS1	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2911385	NM_000527.5(LDLR):c.941-14C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 2911134	NM_000527.5(LDLR):c.2141-18G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2911087	NM_000527.5(LDLR):c.1061-11C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2910679	NM_000527.5(LDLR):c.2389+24_2389+33del	LDLR	Deletion (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2910451	NM_000527.5(LDLR):c.1427C>G (p.Pro476Arg)	LDLR (P435R +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2908207	NM_000527.5(LDLR):c.1061-19C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2907538	NM_000527.5(LDLR):c.1867A>T (p.Ile623Phe)	LDLR (I496F +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2903463	NM_000527.5(LDLR):c.2068C>T (p.His690Tyr)	LDLR (H649Y +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2902557	NM_000527.5(LDLR):c.818-13C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2902217	NM_000527.5(LDLR):c.1846-20C>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2899242	NM_000527.5(LDLR):c.1705+13G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2894396	NM_000527.5(LDLR):c.2389+19C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2894328	NM_000527.5(LDLR):c.1060+15G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2893601	NM_000527.5(LDLR):c.1359-13C>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2889944	NM_000527.5(LDLR):c.562T>G (p.Tyr188Asp)	LDLR (Y147D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 2887930	NM_000527.5(LDLR):c.1060+11G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2887577	NM_000527.5(LDLR):c.68-14T>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2886175	NM_000527.5(LDLR):c.1987+14A>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2884292	NM_000527.5(LDLR):c.1587-3C>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2883307	NM_000527.5(LDLR):c.856A>G (p.Ser286Gly)	LDLR (S118G +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 2882719	NM_000527.5(LDLR):c.2010C>T (p.Thr670=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2881432	NM_000527.5(LDLR):c.1987+20A>G	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2880319	NM_000527.5(LDLR):c.984C>G (p.Val328=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2880165	NM_000527.5(LDLR):c.1187-6C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2876632	NM_000527.5(LDLR):c.162T>C (p.Asp54=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2876611	NM_000527.5(LDLR):c.1362C>T (p.Thr454=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2875976	NM_000527.5(LDLR):c.1626C>A (p.Ile542=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2875435	NM_000527.5(LDLR):c.1186+19C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2875063	NM_000527.5(LDLR):c.2140+16T>G	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2874796	NM_000527.5(LDLR):c.600C>T (p.Phe200=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 2872499	NM_000527.5(LDLR):c.1738T>A (p.Ser580Thr)	LDLR (S539T +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 2871312	NM_000527.5(LDLR):c.264G>A (p.Arg88=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 2866082	NM_000527.5(LDLR):c.314-10A>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2865666	NM_000527.5(LDLR):c.1706-8G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2864787	NM_000527.5(LDLR):c.1060+16G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2864660	NM_000527.5(LDLR):c.694+15A>G	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2862937	NM_000527.5(LDLR):c.2466C>T (p.Asn822=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2862905	NM_000527.5(LDLR):c.1200C>T (p.Tyr400=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2862711	NM_000527.5(LDLR):c.1359-20C>T	LDLR, MIR6886	Single nucleotide variant (intron variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2862432	NM_000527.5(LDLR):c.1824C>A (p.Pro608=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2862178	NM_000527.5(LDLR):c.1358+20G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2858988	NM_000527.5(LDLR):c.867C>A (p.Cys289Ter)	LDLR (C121* +3 more)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia	GPathogenic
Select item 2858705	NM_000527.5(LDLR):c.940+18C>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign
Select item 2858571	NM_000527.5(LDLR):c.1609G>C (p.Gly537Arg)	LDLR (G369R +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 2858518	NM_000527.5(LDLR):c.2490G>A (p.Lys830=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2858488	NM_000527.5(LDLR):c.1846-1G>T	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia	GPathogenic
Select item 2857401	NM_000527.5(LDLR):c.2262G>C (p.Gly754=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia	GLikely benign
Select item 2856762	NM_000527.5(LDLR):c.276del (p.Val93fs)	LDLR (V179fs +1 more)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia	GPathogenic
Select item 2855805	NM_000527.5(LDLR):c.2311+12G>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely benign

<< First< Prev

Page of 45