ClinVar for MedGen (Select 1639436) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 138

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255613	NM_003383.5(VLDLR):c.821-1G>A	VLDLR	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GPathogenic
Select item 3064031	NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)	VLDLR (V334G +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	Gnot provided
Select item 2904136	NM_003383.5(VLDLR):c.2252-2A>C	VLDLR	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2577848	NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)	VLDLR (W534*)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GPathogenic
Select item 2577847	NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)	VLDLR (E613G)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GPathogenic
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 2577844	NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)	VLDLR (R260*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2438527	NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)	VLDLR (C217R +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
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 2438525	NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)	VLDLR (P792R +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 2388521	NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)	VLDLR (I364L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
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 2231752	NM_003383.5(VLDLR):c.820+1G>A	VLDLR	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	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 1705926	NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)	VLDLR (C674Y +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely pathogenic
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 1679407	NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter)	VLDLR (R515* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely pathogenic
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 1325339	NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)	VLDLR (W753* +3 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely pathogenic
Select item 1290630	NM_003383.5(VLDLR):c.1313-17A>T	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1032128	NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro)	VLDLR (S266P +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 1032127	NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr)	VLDLR (I194T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 1032125	NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe)	VLDLR (L656F +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 915244	NM_003383.5(VLDLR):c.570G>C (p.Pro190=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 915243	NM_003383.5(VLDLR):c.541G>A (p.Asp181Asn)	VLDLR (D140N +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 915242	NM_003383.5(VLDLR):c.469G>A (p.Asp157Asn)	VLDLR (D157N +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
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 914609	NM_003383.5(VLDLR):c.*351C>G	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914608	NM_003383.5(VLDLR):c.*281G>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914607	NM_003383.5(VLDLR):c.*267A>G	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914606	NM_003383.5(VLDLR):c.*214C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914605	NM_003383.5(VLDLR):c.*192C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914565	NM_003383.5(VLDLR):c.1971C>T (p.Val657=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 914099	NM_003383.5(VLDLR):c.*98G>A	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914098	NM_003383.5(VLDLR):c.*51C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914097	NM_003383.5(VLDLR):c.*46C>G	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914096	NM_003383.5(VLDLR):c.*45C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914095	NM_003383.5(VLDLR):c.*21C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914055	NM_003383.5(VLDLR):c.1546G>A (p.Ala516Thr)	VLDLR (A475T +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 914011	NM_003383.5(VLDLR):c.-48G>C	VLDLR, VLDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 913702	NM_003383.5(VLDLR):c.2416+13C>T	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913701	NM_003383.5(VLDLR):c.2395G>A (p.Ala799Thr)	VLDLR (A730T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 913700	NM_003383.5(VLDLR):c.2379A>G (p.Pro793=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 913699	NM_003383.5(VLDLR):c.2270C>T (p.Thr757Ile)	VLDLR (T716I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913653	NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys)	VLDLR (W306C +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 913652	NM_003383.5(VLDLR):c.921C>T (p.Ser307=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913613	NM_003383.5(VLDLR):c.-99C>G	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 913612	NM_003383.5(VLDLR):c.-154C>G	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 912642	NM_003383.5(VLDLR):c.*534T>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely benign
Select item 912602	NM_003383.5(VLDLR):c.2251A>T (p.Ser751Cys)	VLDLR (S710C +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912601	NM_003383.5(VLDLR):c.2222A>G (p.Asn741Ser)	VLDLR (N700S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 912600	NM_003383.5(VLDLR):c.2168C>T (p.Pro723Leu)	VLDLR (P723L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912599	NM_003383.5(VLDLR):c.2104+6G>A	VLDLR	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912598	NM_003383.5(VLDLR):c.2104G>C (p.Gly702Arg)	VLDLR (G661R +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912553	NM_003383.5(VLDLR):c.828A>C (p.Arg276=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 912552	NM_003383.5(VLDLR):c.711C>G (p.Thr237=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 912551	NM_003383.5(VLDLR):c.640G>A (p.Asp214Asn)	VLDLR (D214N +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 912550	NM_003383.5(VLDLR):c.639C>T (p.Asp213=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 912499	NM_003383.5(VLDLR):c.-207G>A	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912498	NM_003383.5(VLDLR):c.-302T>C	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 912497	NM_003383.5(VLDLR):c.-303C>G	VLDLR, VLDLR-AS1	Single nucleotide variant (5 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 813944	NM_003383.5(VLDLR):c.1374del (p.Glu460fs)	VLDLR (E419fs +1 more)	Deletion (frameshift variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
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 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 674397	NM_003383.5(VLDLR):c.1312+27G>A	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 635065	NM_003383.5(VLDLR):c.1962+2T>C	VLDLR	Single nucleotide variant (splice donor variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GLikely pathogenic
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 437230	NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln)	VLDLR (R448Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 437222	NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln)	VLDLR (R556Q +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +3 more	GUncertain significance
Select item 437220	NM_003383.5(VLDLR):c.738C>T (p.Cys246=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GBenign/Likely 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 388504	NM_003383.5(VLDLR):c.2104+5C>T	VLDLR	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 378855	NM_003383.5(VLDLR):c.1809C>T (p.Asn603=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 366383	NM_003383.5(VLDLR):c.*551T>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Congenital cerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 366382	NM_003383.5(VLDLR):c.*517G>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366380	NM_003383.5(VLDLR):c.*460G>A	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366379	NM_003383.5(VLDLR):c.*180G>A	VLDLR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 366378	NM_003383.5(VLDLR):c.*83C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366377	NM_003383.5(VLDLR):c.*63C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GUncertain significance
Select item 366376	NM_003383.5(VLDLR):c.*48C>T	VLDLR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 366375	NM_003383.5(VLDLR):c.*16T>C	VLDLR	Single nucleotide variant (3 prime UTR variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366374	NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr)	VLDLR (I849T +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +3 more	GUncertain significance
Select item 366373	NM_003383.5(VLDLR):c.2103A>C (p.Ser701=)	VLDLR	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366372	NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys)	VLDLR (R656C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 366371	NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)	VLDLR	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366370	NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)	VLDLR	Single nucleotide variant (synonymous variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366369	NM_003383.5(VLDLR):c.1703+10C>G	VLDLR	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
Select item 366368	NM_003383.5(VLDLR):c.1066+14T>C	VLDLR	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +2 more	GConflicting classifications of pathogenicity
Select item 366366	NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)	VLDLR (G288A +1 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 366365	NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)	VLDLR (G288C +1 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +2 more	GUncertain significance
Select item 366364	NM_003383.5(VLDLR):c.692G>A (p.Arg231His)	VLDLR (R231H +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GUncertain significance
Select item 366363	NM_003383.5(VLDLR):c.582C>T (p.Gly194=)	VLDLR	Single nucleotide variant (synonymous variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 366361	NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly)	VLDLR (R169G +1 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +1 more	GUncertain significance
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 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 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

<< First< Prev

Page of 2