VLDLR[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 667581	NM_003383.5(VLDLR):c.82+276C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667582	NM_003383.5(VLDLR):c.82+283T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667583	NM_003383.5(VLDLR):c.83-337G>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219504	NM_003383.5(VLDLR):c.83-258T>G	VLDLR	Single nucleotide variant (intron variant)	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)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1343566	NM_003383.5(VLDLR):c.103C>G (p.Pro35Ala)	VLDLR (P35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336107	NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu)	VLDLR (P35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 1328856	NM_003383.5(VLDLR):c.140C>T (p.Thr47Met)	VLDLR (T47M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2577846	NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)	VLDLR	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GPathogenic
Select item 2332924	NM_003383.5(VLDLR):c.164A>G (p.Asp55Gly)	VLDLR (D55G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130705	NM_003383.5(VLDLR):c.175G>A (p.Val59Ile)	VLDLR (V59I)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +3 more	GBenign/Likely benign
Select item 2960427	NM_003383.5(VLDLR):c.180C>T (p.Asp60=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614190	NM_003383.5(VLDLR):c.188A>T (p.Asp63Val)	VLDLR (D63V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1200615	NM_003383.5(VLDLR):c.202+158G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288560	NM_003383.5(VLDLR):c.203-326A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251296	NM_003383.5(VLDLR):c.203-114T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
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 1708904	NM_003383.5(VLDLR):c.217G>A (p.Ala73Thr)	VLDLR (A73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1311138	NM_003383.5(VLDLR):c.232G>A (p.Val78Met)	VLDLR (V78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431884	NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)	VLDLR (N81S)	Single nucleotide variant (missense variant)	not provided +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 1333255	NM_003383.5(VLDLR):c.262dup (p.Arg88fs)	VLDLR (R88fs)	Duplication (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely pathogenic
Select item 1878564	NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)	VLDLR (R88Q)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 3188681	NM_003383.5(VLDLR):c.277G>C (p.Gly93Arg)	VLDLR (G93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 130711	NM_003383.5(VLDLR):c.292G>A (p.Glu98Lys)	VLDLR (E98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332101	NM_003383.5(VLDLR):c.295G>T (p.Asp99Tyr)	VLDLR (D99Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1032126	NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala)	VLDLR (G100A)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
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 2290203	NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)	VLDLR (S104I)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 212558	NM_003383.5(VLDLR):c.315A>G (p.Pro105=)	VLDLR	Single nucleotide variant (synonymous variant)	not specified +1 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 2444129	NM_003383.5(VLDLR):c.325+1del	VLDLR	Deletion (splice donor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	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 1181633	NM_003383.5(VLDLR):c.326-618A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672682	NM_003383.5(VLDLR):c.326-270T>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206736	NM_003383.5(VLDLR):c.326-177A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205817	NM_003383.5(VLDLR):c.326-34C>T	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 1691587	NM_003383.5(VLDLR):c.340C>T (p.Arg114Cys)	VLDLR (R114C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2463617	NM_003383.5(VLDLR):c.364G>A (p.Ala122Thr)	VLDLR (A122T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2979617	NM_003383.5(VLDLR):c.366C>T (p.Ala122=)	VLDLR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2367420	NM_003383.5(VLDLR):c.368A>T (p.His123Leu)	VLDLR (H123L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1705671	NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)	VLDLR (Q126*)	Single nucleotide variant (nonsense +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely pathogenic
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 1193866	NM_003383.5(VLDLR):c.448+88C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2438526	NM_003383.5(VLDLR):c.449-112G>A	VLDLR	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
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 512388	NM_003383.5(VLDLR):c.449-10C>G	VLDLR	Single nucleotide variant (intron variant)	not specified	GLikely benign
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

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