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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 144967	GRCh38/hg38 9p24.2(chr9:2413996-2711186)x3	LOC121740738, LOC130001467 +7 more	Copy number gain	See cases	GBenign
Select item 59053	GRCh38/hg38 9p24.2(chr9:2452325-2700375)x1	LOC121740738, LOC130001467 +7 more	Copy number loss	See cases	GUncertain significance
Select item 667580	NM_003383.3(VLDLR):c.-708C>G	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GBenign
Select item 1215620	NC_000009.12:g.2621559G>A	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1201496	NC_000009.12:g.2621560A>G	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 673304	NM_003383.3(VLDLR):c.-626G>A	LOC121740738, VLDLR +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 1201678	NC_000009.12:g.2621675G>A	VLDLR, VLDLR-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 366350	NM_003383.5(VLDLR):c.-113C>G	VLDLR-AS1, VLDLR	Single nucleotide variant (5 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366352	NM_003383.5(VLDLR):c.-69A>G	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +2 more	GBenign
Select item 366354	NM_003383.5(VLDLR):c.-56C>T	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +2 more	GBenign
Select item 287823	NM_003383.5(VLDLR):c.-42GGC[9]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 420696	NM_003383.5(VLDLR):c.-42GGC[6]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 366355	NM_003383.5(VLDLR):c.-42GGC[7]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290493	NM_003383.5(VLDLR):c.-42GGC[5]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 366358	NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC	VLDLR, VLDLR-AS1	Insertion (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +1 more	GConflicting classifications of pathogenicity
Select item 420327	NM_003383.5(VLDLR):c.-19_-18insGGCACC	VLDLR, VLDLR-AS1	Insertion (non-coding transcript variant +1 more)	not specified	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=)	VLDLR, VLDLR-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +3 more	GBenign/Likely 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 1313792	NM_003383.5(VLDLR):c.43C>G (p.Leu15Val)	LOC130001468, VLDLR +1 more (L15V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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)	Congenital cerebellar hypoplasia +3 more	GConflicting classifications of pathogenicity
Select item 423718	NM_003383.5(VLDLR):c.82G>A (p.Gly28Arg)	VLDLR, LOC130001468 +1 more (G28R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 130713	NM_003383.5(VLDLR):c.82+7G>A	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +3 more	GBenign
Select item 1205019	NM_003383.5(VLDLR):c.82+44G>C	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1197718	NM_003383.5(VLDLR):c.82+52G>C	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 1328856	NM_003383.5(VLDLR):c.140C>T (p.Thr47Met)	VLDLR (T47M)	Single nucleotide variant (missense variant)	not provided	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 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 1708904	NM_003383.5(VLDLR):c.217G>A (p.Ala73Thr)	VLDLR (A73T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 specified +2 more	GBenign/Likely 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 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 1193866	NM_003383.5(VLDLR):c.448+88C>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 130700	NM_003383.5(VLDLR):c.464G>C (p.Ser155Thr)	VLDLR (S155T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 452170	NM_003383.5(VLDLR):c.467C>A (p.Pro156His)	VLDLR (P156H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130712	NM_003383.5(VLDLR):c.468C>T (p.Pro156=)	VLDLR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 437219	NM_003383.5(VLDLR):c.471C>T (p.Asp157=)	VLDLR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1217613	NM_003383.5(VLDLR):c.569C>T (p.Pro190Leu)	VLDLR (P149L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307622	NM_003383.5(VLDLR):c.611C>T (p.Ser204Phe)	VLDLR (S163F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509896	NM_003383.5(VLDLR):c.672G>A (p.Glu224=)	VLDLR	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 212561	NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)	VLDLR (I244M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 212564	NM_003383.5(VLDLR):c.792C>T (p.Cys264=)	VLDLR	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 450520	NM_003383.5(VLDLR):c.821-2A>G	VLDLR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1315259	NM_003383.5(VLDLR):c.827G>C (p.Arg276Pro)	VLDLR (R235P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312029	NM_003383.5(VLDLR):c.829A>C (p.Thr277Pro)	VLDLR (T236P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223471	NM_003383.5(VLDLR):c.835C>T (p.Arg279Ter)	VLDLR (R238* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 437221	NM_003383.5(VLDLR):c.836G>A (p.Arg279Gln)	VLDLR (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 130714	NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)	VLDLR (R301Q +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1214431	NM_003383.5(VLDLR):c.922G>A (p.Asp308Asn)	VLDLR (D267N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392736	NM_003383.5(VLDLR):c.943+19T>C	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 130715	NM_003383.5(VLDLR):c.944-5T>C	VLDLR	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 212566	NM_003383.5(VLDLR):c.954C>T (p.Cys318=)	VLDLR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 373721	NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly)	VLDLR (S328G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 450521	NM_003383.5(VLDLR):c.1041_1045del (p.Trp347_Asp349delinsTer)	VLDLR	Deletion (nonsense)	not provided	GPathogenic
Select item 1237035	NM_003383.5(VLDLR):c.1066+43C>T	VLDLR	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GBenign
Select item 674620	NM_003383.5(VLDLR):c.1066+49C>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210970	NM_003383.5(VLDLR):c.1066+215_1066+216dup	VLDLR	Duplication (intron variant)	not provided	GLikely benign
Select item 1194045	NM_003383.5(VLDLR):c.1066+216dup	VLDLR	Duplication (intron variant)	not provided	GLikely benign
Select item 1296018	NM_003383.5(VLDLR):c.1066+215_1066+216del	VLDLR	Deletion (intron variant)	not provided	GBenign
Select item 1279960	NM_003383.5(VLDLR):c.1066+216del	VLDLR	Deletion (intron variant)	not provided	GBenign
Select item 1211181	NM_003383.5(VLDLR):c.1066+214_1066+216del	VLDLR	Deletion (intron variant)	not provided	GLikely benign
Select item 1218032	NM_003383.5(VLDLR):c.1066+223G>T	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188585	NM_003383.5(VLDLR):c.1066+248G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220208	NM_003383.5(VLDLR):c.1067-269G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258462	NM_003383.5(VLDLR):c.1067-266C>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670830	NM_003383.5(VLDLR):c.1067-191G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 751683	NM_003383.5(VLDLR):c.1074C>T (p.Asn358=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 212551	NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His)	VLDLR (Y378H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1218494	NM_003383.5(VLDLR):c.1134C>T (p.Tyr378=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212552	NM_003383.5(VLDLR):c.1162C>T (p.Leu388=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 756495	NM_003383.5(VLDLR):c.1179C>T (p.Thr393=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 676040	NM_003383.5(VLDLR):c.1186+21T>C	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130701	NM_003383.5(VLDLR):c.1187-3C>T	VLDLR	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 437228	NM_003383.5(VLDLR):c.1297G>A (p.Val433Met)	VLDLR (V433M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 674397	NM_003383.5(VLDLR):c.1312+27G>A	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 670838	NM_003383.5(VLDLR):c.1312+119C>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678434	NM_003383.5(VLDLR):c.1313-101A>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212627	NM_003383.5(VLDLR):c.1313-67G>A	VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290630	NM_003383.5(VLDLR):c.1313-17A>T	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 130702	NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)	VLDLR (G438D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437231	NM_003383.5(VLDLR):c.1452C>A (p.Phe484Leu)	VLDLR (F484L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 130703	NM_003383.5(VLDLR):c.1458C>T (p.Ala486=)	LOC130001471, VLDLR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3252471	NM_003383.5(VLDLR):c.1459G>A (p.Asp487Asn)	LOC130001471, VLDLR (D446N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219774	NM_003383.5(VLDLR):c.1484G>C (p.Ser495Thr)	LOC130001471, VLDLR (S454T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 674398	NM_003383.5(VLDLR):c.1484+28T>G	VLDLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198529	NM_003383.5(VLDLR):c.1484+50G>T	LOC130001472, VLDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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