ClinVar for Gene (Select 9711) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220894	NM_014687.4(RUBCN):c.1553dup (p.Glu519fs)	RUBCN (E519fs +2 more)	Duplication (frameshift variant)	Spinocerebellar ataxia type 15/16	GLikely pathogenic
Select item 3157139	NM_014687.4(RUBCN):c.278C>T (p.Pro93Leu)	RUBCN (P93L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157138	NM_014687.4(RUBCN):c.1131G>T (p.Glu377Asp)	RUBCN (E377D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157135	NM_014687.4(RUBCN):c.591C>G (p.Ser197Arg)	RUBCN (S197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157134	NM_014687.4(RUBCN):c.2716C>G (p.Leu906Val)	RUBCN (L861V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157133	NM_014687.4(RUBCN):c.2581G>T (p.Gly861Trp)	RUBCN (G900W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157131	NM_014687.4(RUBCN):c.2581G>C (p.Gly861Arg)	RUBCN (G861R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157130	NM_014687.4(RUBCN):c.418C>T (p.Arg140Trp)	RUBCN (R80W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157129	NM_014687.4(RUBCN):c.1690C>G (p.Arg564Gly)	RUBCN (R564G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157128	NM_014687.4(RUBCN):c.1391T>C (p.Met464Thr)	RUBCN (M478T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157127	NM_014687.4(RUBCN):c.1325T>G (p.Val442Gly)	RUBCN (V442G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157126	NM_014687.4(RUBCN):c.1193C>T (p.Thr398Ile)	RUBCN (T398I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3067820	NM_014687.4(RUBCN):c.1786+2595_1786+2596del	RUBCN (S621fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 15	GUncertain significance
Select item 3062702	GRCh37/hg19 3q29(chr3:196657995-197656512)x1	BDH1, DLG1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3058488	NM_014687.4(RUBCN):c.1530G>A (p.Lys510=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder	GLikely benign
Select item 3048286	NM_014687.4(RUBCN):c.1294C>G (p.Pro432Ala)	RUBCN (P387A +2 more)	Single nucleotide variant (missense variant)	RUBCN-related disorder	GBenign
Select item 3044830	NM_014687.4(RUBCN):c.2862C>T (p.Tyr954=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder	GLikely benign
Select item 3043880	NM_014687.4(RUBCN):c.1685-5A>G	RUBCN	Single nucleotide variant (intron variant)	RUBCN-related disorder	GLikely benign
Select item 3042841	NM_014687.4(RUBCN):c.2623G>A (p.Ala875Thr)	RUBCN (A830T +2 more)	Single nucleotide variant (missense variant)	RUBCN-related disorder	GLikely benign
Select item 3035662	NM_014687.4(RUBCN):c.1786+2562C>A	RUBCN	Single nucleotide variant (intron variant)	RUBCN-related disorder	GLikely benign
Select item 3033546	NM_014687.4(RUBCN):c.828C>G (p.Pro276=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder	GLikely benign
Select item 3025657	NM_014687.4(RUBCN):c.312C>T (p.Ser104=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025263	NM_014687.4(RUBCN):c.1063TCC[1] (p.Ser359del)	RUBCN (S299del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2775435	NM_014687.4(RUBCN):c.2647-2A>G	RUBCN	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 15	GPathogenic
Select item 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654522	NM_014687.4(RUBCN):c.1474-5G>A	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	FYTTD1, IQCG +27 more	Copy number loss	Diamond-Blackfan anemia 5	GPathogenic
Select item 2570690	NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)	RUBCN (D502E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2565225	NM_014687.4(RUBCN):c.2728C>T (p.Arg910Trp)	RUBCN (R865W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560134	NM_014687.4(RUBCN):c.1145G>T (p.Ser382Ile)	RUBCN (S382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553109	NM_014687.4(RUBCN):c.1108G>A (p.Gly370Arg)	RUBCN (G370R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509775	NM_014687.4(RUBCN):c.356G>A (p.Arg119His)	RUBCN (R119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505573	NM_014687.4(RUBCN):c.1262-1G>C	RUBCN	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 15	GUncertain significance
Select item 2505356	NM_014687.4(RUBCN):c.1847+2T>G	RUBCN	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 15	GLikely pathogenic
Select item 2498947	NM_014687.4(RUBCN):c.183G>A (p.Met61Ile)	RUBCN (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497926	NM_014687.4(RUBCN):c.2192-11G>A	RUBCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2488752	NM_014687.4(RUBCN):c.988T>G (p.Leu330Val)	RUBCN (L270V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486479	NM_014687.4(RUBCN):c.1100C>G (p.Ser367Cys)	RUBCN (S367C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468780	NM_014687.4(RUBCN):c.997C>G (p.Arg333Gly)	RUBCN (R273G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	PIGX, SENP5 +26 more	Duplication	not provided	GUncertain significance
Select item 2444595	NM_014687.4(RUBCN):c.1825T>C (p.Ser609Pro)	RUBCN (S564P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435492	NM_014687.4(RUBCN):c.1474-5G>T	RUBCN	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 15	GUncertain significance
Select item 2412278	NM_014687.4(RUBCN):c.2291G>A (p.Arg764His)	RUBCN (R803H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410516	NM_014687.4(RUBCN):c.1022G>A (p.Ser341Asn)	RUBCN (S281N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406086	NM_014687.4(RUBCN):c.2158C>T (p.Arg720Cys)	RUBCN (R720C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404322	NM_014687.4(RUBCN):c.1450G>A (p.Gly484Ser)	RUBCN (G439S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404219	NM_014687.4(RUBCN):c.929G>A (p.Ser310Asn)	RUBCN (S250N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401766	NM_014687.4(RUBCN):c.212G>A (p.Arg71His)	RUBCN (R11H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399490	NM_014687.4(RUBCN):c.2644A>G (p.Met882Val)	RUBCN (M882V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2397886	NM_014687.4(RUBCN):c.2429G>A (p.Arg810Gln)	RUBCN (R849Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2393150	NM_014687.4(RUBCN):c.1004G>A (p.Arg335Gln)	RUBCN (R275Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382357	NM_014687.4(RUBCN):c.2534A>G (p.Glu845Gly)	RUBCN (E884G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381099	NM_014687.4(RUBCN):c.709G>A (p.Val237Met)	RUBCN (V237M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378933	NM_014687.4(RUBCN):c.1978A>G (p.Lys660Glu)	RUBCN (K615E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375520	NM_014687.4(RUBCN):c.1821C>A (p.Ser607Arg)	RUBCN (S562R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375324	NM_014687.4(RUBCN):c.1211G>T (p.Ser404Ile)	RUBCN (S404I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372221	NM_014687.4(RUBCN):c.236C>T (p.Thr79Met)	RUBCN (T19M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359696	NM_014687.4(RUBCN):c.793G>A (p.Val265Ile)	RUBCN (V205I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346276	NM_014687.4(RUBCN):c.419G>A (p.Arg140Gln)	RUBCN (R140Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343759	NM_014687.4(RUBCN):c.1261+1400C>T	RUBCN (T367I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334832	NM_014687.4(RUBCN):c.815C>T (p.Thr272Ile)	RUBCN (T272I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310506	NM_014687.4(RUBCN):c.822A>T (p.Gln274His)	RUBCN (Q274H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299044	NM_014687.4(RUBCN):c.367G>A (p.Glu123Lys)	RUBCN (E123K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251002	NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)	RUBCN (V762F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2244482	NM_014687.4(RUBCN):c.2719C>T (p.His907Tyr)	RUBCN (H862Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222418	NM_014687.4(RUBCN):c.703C>G (p.Gln235Glu)	RUBCN (Q175E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218777	NM_014687.4(RUBCN):c.766C>T (p.Arg256Trp)	RUBCN (R256W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218112	NM_014687.4(RUBCN):c.998G>A (p.Arg333Gln)	RUBCN (R273Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210135	NM_014687.4(RUBCN):c.2159G>A (p.Arg720His)	RUBCN (R675H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808419	GRCh37/hg19 3q29(chr3:197185584-197672964)x3	BDH1, FYTTD1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1700446	NM_014687.4(RUBCN):c.2399A>G (p.Tyr800Cys)	RUBCN (Y755C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700291	NM_014687.4(RUBCN):c.1157G>C (p.Arg386Thr)	RUBCN (R326T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678373	NM_014687.4(RUBCN):c.1684+100A>G	RUBCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1340641	GRCh37/hg19 3q29(chr3:197386180-197532716)x1	FYTTD1, LRCH3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1333863	NM_014687.4(RUBCN):c.2537A>G (p.Asp846Gly)	RUBCN (D801G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 15	GUncertain significance
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1297540	NM_014687.4(RUBCN):c.397C>T (p.His133Tyr)	RUBCN (H133Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1175170	NM_014687.4(RUBCN):c.2126C>T (p.Thr709Met)	RUBCN (T664M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 15	GBenign
Select item 1174839	NM_014687.4(RUBCN):c.1261+1378G>T	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1030346	NM_014687.4(RUBCN):c.124A>G (p.Thr42Ala)	RUBCN (T42A)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 15	GUncertain significance
Select item 980661	GRCh37/hg19 3q29(chr3:197386179-197446948)x1	RUBCN	Copy number loss	not provided	GUncertain significance
Select item 980658	GRCh37/hg19 3q29(chr3:197401121-197563460)x3	LRCH3, RUBCN +1 more	Copy number gain	not provided	GUncertain significance
Select item 980657	GRCh37/hg19 3q29(chr3:196552734-197498996)x3	RUBCN, BDH1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 980561	GRCh37/hg19 3q29(chr3:197075198-197591280)x3	FYTTD1, BDH1 +2 more	Copy number gain	not provided	GLikely benign
Select item 980560	GRCh37/hg19 3q29(chr3:197307386-197851986)x3	FYTTD1, LMLN +4 more	Copy number gain	not provided	GLikely benign
Select item 814515	GRCh37/hg19 3q29(chr3:197328504-197563460)x3	RUBCN, FYTTD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 809598	NM_014687.4(RUBCN):c.2075A>T (p.Glu692Val)	RUBCN (E647V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 794470	NM_014687.4(RUBCN):c.2269G>A (p.Ala757Thr)	RUBCN (A757T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 792879	NM_014687.4(RUBCN):c.2647-4C>T	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 791392	NM_014687.4(RUBCN):c.2898C>T (p.Ala966=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780437	NM_014687.4(RUBCN):c.564G>A (p.Ala188=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GBenign

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