"Invitae"[submitter] AND "VLDLR"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 490

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2895079	NM_003383.5(VLDLR):c.6C>G (p.Gly2=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2871484	NM_003383.5(VLDLR):c.9G>A (p.Thr3=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2805692	NM_003383.5(VLDLR):c.9G>T (p.Thr3=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2796109	NM_003383.5(VLDLR):c.15G>C (p.Ala5=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 746203	NM_003383.5(VLDLR):c.15G>A (p.Ala5=)	VLDLR-AS1, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 509895	NM_003383.5(VLDLR):c.18C>T (p.Leu6=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 130710	NM_003383.5(VLDLR):c.24G>A (p.Ala8=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	VLDLR-related condition +4 more	GBenign/Likely benign
Select item 2961130	NM_003383.5(VLDLR):c.27C>T (p.Leu9=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889794	NM_003383.5(VLDLR):c.31C>T (p.Leu11=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2751853	NM_003383.5(VLDLR):c.33G>A (p.Leu11=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 392426	NM_003383.5(VLDLR):c.39C>T (p.Leu13=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2986211	NM_003383.5(VLDLR):c.42G>A (p.Ala14=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821961	NM_003383.5(VLDLR):c.45G>A (p.Leu15=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2715606	NM_003383.5(VLDLR):c.57C>A (p.Pro19=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2094029	NM_003383.5(VLDLR):c.60G>A (p.Arg20=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 366359	NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)	LOC130001468, VLDLR +1 more (A24D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212563	NM_003383.5(VLDLR):c.75C>T (p.Thr25=)	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 130713	NM_003383.5(VLDLR):c.82+7G>A	LOC130001468, VLDLR +1 more	Single nucleotide variant (intron variant +1 more)	not specified +3 more	GBenign
Select item 3018600	NM_003383.5(VLDLR):c.82+9G>A	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3011560	NM_003383.5(VLDLR):c.82+16C>T	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2974539	NM_003383.5(VLDLR):c.82+18C>T	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2857227	NM_003383.5(VLDLR):c.82+18C>G	LOC130001468, VLDLR +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2696381	NM_003383.5(VLDLR):c.83-19T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864849	NM_003383.5(VLDLR):c.83-15C>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784990	NM_003383.5(VLDLR):c.83-14C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987839	NM_003383.5(VLDLR):c.83-10_83-8del	VLDLR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2863654	NM_003383.5(VLDLR):c.83-13C>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813449	NM_003383.5(VLDLR):c.83-12T>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964904	NM_003383.5(VLDLR):c.83-10C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787848	NM_003383.5(VLDLR):c.83-6T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744190	NM_003383.5(VLDLR):c.83-6_83-5del	VLDLR	Deletion (intron variant)	not provided	GLikely benign
Select item 212565	NM_003383.5(VLDLR):c.83-1G>A	VLDLR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1336107	NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)	VLDLR (P35L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2861390	NM_003383.5(VLDLR):c.120C>T (p.Cys40=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753414	NM_003383.5(VLDLR):c.120C>A (p.Cys40Ter)	VLDLR (C40*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1453220	NM_003383.5(VLDLR):c.131G>A (p.Arg44His)	VLDLR (R44H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2766171	NM_003383.5(VLDLR):c.139dup (p.Thr47fs)	VLDLR (T47fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2990348	NM_003383.5(VLDLR):c.141G>A (p.Thr47=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710506	NM_003383.5(VLDLR):c.142C>T (p.Leu48=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130705	NM_003383.5(VLDLR):c.175G>A (p.Val59Ile)	VLDLR (V59I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2960427	NM_003383.5(VLDLR):c.180C>T (p.Asp60=)	VLDLR	Single nucleotide variant (synonymous variant)	VLDLR-related condition +1 more	GLikely benign
Select item 2820344	NM_003383.5(VLDLR):c.202+7A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804952	NM_003383.5(VLDLR):c.202+20A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878444	NM_003383.5(VLDLR):c.203-17C>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967507	NM_003383.5(VLDLR):c.203-15A>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869956	NM_003383.5(VLDLR):c.203-9C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714570	NM_003383.5(VLDLR):c.203-8G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004051	NM_003383.5(VLDLR):c.203-4G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2842381	NM_003383.5(VLDLR):c.203-1del	VLDLR	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2905657	NM_003383.5(VLDLR):c.213G>A (p.Thr71=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709886	NM_003383.5(VLDLR):c.219T>C (p.Ala73=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980484	NM_003383.5(VLDLR):c.231C>T (p.Phe77=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 431884	NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)	VLDLR (N81S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1971848	NM_003383.5(VLDLR):c.258C>T (p.Pro86=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349900	NM_003383.5(VLDLR):c.280G>A (p.Asp94Asn)	VLDLR (D94N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012031	NM_003383.5(VLDLR):c.291C>T (p.Cys97=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837856	NM_003383.5(VLDLR):c.291C>A (p.Cys97Ter)	VLDLR (C97*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2772088	NM_003383.5(VLDLR):c.303A>T (p.Ser101=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749664	NM_003383.5(VLDLR):c.303A>C (p.Ser101=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212558	NM_003383.5(VLDLR):c.315A>G (p.Pro105=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2082853	NM_003383.5(VLDLR):c.325C>T (p.His109Tyr)	VLDLR (R109C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445903	NM_003383.5(VLDLR):c.325+1G>A	VLDLR	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2830790	NM_003383.5(VLDLR):c.325+14G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777685	NM_003383.5(VLDLR):c.325+20G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832377	NM_003383.5(VLDLR):c.326-17C>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672308	NM_003383.5(VLDLR):c.326-13A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886085	NM_003383.5(VLDLR):c.336A>G (p.Thr112=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000718	NM_003383.5(VLDLR):c.363C>T (p.Gly121=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979617	NM_003383.5(VLDLR):c.366C>T (p.Ala122=)	VLDLR	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2986498	NM_003383.5(VLDLR):c.378G>A (p.Gln126=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2698407	NM_003383.5(VLDLR):c.379dup (p.Cys127fs)	VLDLR (C127fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 791276	NM_003383.5(VLDLR):c.397A>C (p.Arg133=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2758544	NM_003383.5(VLDLR):c.411A>G (p.Glu137=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 760572	NM_003383.5(VLDLR):c.417T>C (p.Asp139=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777008	NM_003383.5(VLDLR):c.420T>C (p.Cys140=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2847664	NM_003383.5(VLDLR):c.448+1G>C	VLDLR	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2980338	NM_003383.5(VLDLR):c.448+7_448+9del	VLDLR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2122696	NM_003383.5(VLDLR):c.448+8G>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968002	NM_003383.5(VLDLR):c.448+11C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693663	NM_003383.5(VLDLR):c.448+12A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967697	NM_003383.5(VLDLR):c.448+13G>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792575	NM_003383.5(VLDLR):c.448+13G>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824694	NM_003383.5(VLDLR):c.449-18dup	VLDLR	Duplication (intron variant)	not provided	GLikely benign
Select item 2763662	NM_003383.5(VLDLR):c.449-14C>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 915241	NM_003383.5(VLDLR):c.449-14C>G	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 366360	NM_003383.5(VLDLR):c.449-12C>T	VLDLR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2805627	NM_003383.5(VLDLR):c.449-8C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789585	NM_003383.5(VLDLR):c.449-8C>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815500	NM_003383.5(VLDLR):c.449-7T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892838	NM_003383.5(VLDLR):c.449-2A>T	VLDLR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 130700	NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr)	VLDLR (S155T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2861625	NM_003383.5(VLDLR):c.468C>G (p.Pro156=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130712	NM_003383.5(VLDLR):c.468C>T (p.Pro156=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 437219	NM_003383.5(VLDLR):c.471C>T (p.Asp157=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2708549	NM_003383.5(VLDLR):c.486C>G (p.Ser162=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758788	NM_003383.5(VLDLR):c.495C>G (p.Arg165=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985935	NM_003383.5(VLDLR):c.513T>C (p.Phe171=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998918	NM_003383.5(VLDLR):c.516A>T (p.Val172=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 366362	NM_003383.5(VLDLR):c.540C>T (p.Ser180=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2855138	NM_003383.5(VLDLR):c.565del (p.Ala189fs)	VLDLR (A148fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 5