RUBCN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	ACAP2, APOD +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	ACAP2, APOD +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	ACAP2, APOD +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	BDH1, CEP19 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 59689	GRCh38/hg38 3q29(chr3:197511726-197833102)x3	BDH1, FYTTD1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 724205	NM_014687.4(RUBCN):c.2900C>T (p.Ala967Val)	RUBCN (A922V +2 more)	Single nucleotide variant (missense 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 731517	NM_014687.4(RUBCN):c.2886G>C (p.Leu962=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 129379	NM_014687.4(RUBCN):c.2856A>G (p.Ser952=)	RUBCN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 708889	NM_014687.4(RUBCN):c.2751G>A (p.Ala917=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727670	NM_014687.4(RUBCN):c.2741-3T>C	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 758987	NM_014687.4(RUBCN):c.2721T>C (p.His907=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2775435	NM_014687.4(RUBCN):c.2647-2A>G	RUBCN	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 15	GPathogenic
Select item 792879	NM_014687.4(RUBCN):c.2647-4C>T	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729995	NM_014687.4(RUBCN):c.2647-5C>T	RUBCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2399490	NM_014687.4(RUBCN):c.2644A>G (p.Met882Val)	RUBCN (M882V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 120216	NM_014687.4(RUBCN):c.2624del (p.Ala875fs)	RUBCN (A914fs +2 more)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 15	GPathogenic
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 738463	NM_014687.4(RUBCN):c.2583G>A (p.Gly861=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder +1 more	GLikely benign
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 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 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 2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	FYTTD1, IQCG +27 more	Copy number loss	Diamond-Blackfan anemia 5	GPathogenic
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 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 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 2251002	NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)	RUBCN (V762F +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 15 +2 more	GConflicting classifications of pathogenicity
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 377027	NM_014687.4(RUBCN):c.2209C>T (p.Arg737Trp)	RUBCN (R692W +2 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 774854	NM_014687.4(RUBCN):c.1971C>T (p.Ala657=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 748633	NM_014687.4(RUBCN):c.1959G>A (p.Pro653=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726472	NM_014687.4(RUBCN):c.1938G>A (p.Ser646=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 772867	NM_014687.4(RUBCN):c.1794C>T (p.Asp598=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3035662	NM_014687.4(RUBCN):c.1786+2562C>A	RUBCN	Single nucleotide variant (intron variant)	RUBCN-related disorder	GLikely benign
Select item 728654	NM_014687.4(RUBCN):c.1731G>A (p.Ser577=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3043880	NM_014687.4(RUBCN):c.1685-5A>G	RUBCN	Single nucleotide variant (intron variant)	RUBCN-related disorder	GLikely benign
Select item 1678373	NM_014687.4(RUBCN):c.1684+100A>G	RUBCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 721616	NM_014687.4(RUBCN):c.1680C>T (p.His560=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 242883	NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)	RUBCN (T503A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 767947	NM_014687.4(RUBCN):c.1568T>C (p.Val523Ala)	RUBCN (V523A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3058488	NM_014687.4(RUBCN):c.1530G>A (p.Lys510=)	RUBCN	Single nucleotide variant (synonymous variant)	RUBCN-related disorder	GLikely benign
Select item 728161	NM_014687.4(RUBCN):c.1497A>G (p.Ser499=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654522	NM_014687.4(RUBCN):c.1474-5G>A	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 744290	NM_014687.4(RUBCN):c.1474-6C>T	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 744672	NM_014687.4(RUBCN):c.1371C>T (p.Tyr457=)	RUBCN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 718994	NM_014687.4(RUBCN):c.1261+1410T>A	RUBCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1174839	NM_014687.4(RUBCN):c.1261+1378G>T	RUBCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 129378	NM_014687.4(RUBCN):c.1188T>C (p.Thr396=)	RUBCN	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 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 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 3025263	NM_014687.4(RUBCN):c.1063TCC[1] (p.Ser359del)	RUBCN (S299del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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