UBTF[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 1258422	NM_014233.4(UBTF):c.*141del	ATXN7L3-AS1, UBTF	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2438463	NM_014233.4(UBTF):c.2291A>C (p.Asn764Thr)	ATXN7L3-AS1, UBTF (N727T +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3065294	NM_014233.4(UBTF):c.2236G>A (p.Glu746Lys)	ATXN7L3-AS1, UBTF (E709K +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 932034	NM_014233.4(UBTF):c.2213A>G (p.Asp738Gly)	ATXN7L3-AS1, UBTF (D701G +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3069082	NM_014233.4(UBTF):c.2196CGA[4] (p.Asp734_Glu735insAsp)	ATXN7L3-AS1, UBTF	Microsatellite (inframe_insertion +1 more)	not specified	GUncertain significance
Select item 2243923	NM_014233.4(UBTF):c.2196CGA[2] (p.Asp734del)	ATXN7L3-AS1, UBTF (D734del +1 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GBenign
Select item 3185891	NM_014233.4(UBTF):c.2196C>A (p.Asp732Glu)	ATXN7L3-AS1, UBTF (D695E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3051246	NM_014233.4(UBTF):c.2170-7C>T	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	UBTF-related disorder	GLikely benign
Select item 100822	NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr)	ATXN7L3-AS1, UBTF (D685Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2486967	NM_014233.4(UBTF):c.2143G>A (p.Glu715Lys)	ATXN7L3-AS1, UBTF (E678K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3363529	NM_014233.4(UBTF):c.2125T>C (p.Ser709Pro)	ATXN7L3-AS1, UBTF (S672P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 780067	NM_014233.4(UBTF):c.2121C>T (p.Gly707=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1326217	NM_014233.4(UBTF):c.2104_2105dup (p.Ser703fs)	ATXN7L3-AS1, UBTF (S666fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2475442	NM_014233.4(UBTF):c.2099G>A (p.Gly700Glu)	ATXN7L3-AS1, UBTF (G663E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3365492	NM_014233.4(UBTF):c.2088TGA[1] (p.Asp697del)	ATXN7L3-AS1, UBTF (D660del +1 more)	Microsatellite (non-coding transcript variant)	not provided	GUncertain significance
Select item 2647822	NM_014233.4(UBTF):c.2061C>T (p.Asp687=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1709489	NM_014233.4(UBTF):c.2040TGA[1] (p.Asp681del)	ATXN7L3-AS1, UBTF (D644del +1 more)	Microsatellite (inframe_deletion +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3377261	NM_014233.4(UBTF):c.2015A>G (p.Gln672Arg)	ATXN7L3-AS1, UBTF (Q635R +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 504357	NM_014233.4(UBTF):c.2014C>T (p.Gln672Ter)	ATXN7L3-AS1, UBTF (Q635* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3345433	NM_014233.4(UBTF):c.2003G>T (p.Arg668Leu)	ATXN7L3-AS1, UBTF (R631L +1 more)	Single nucleotide variant (missense variant +1 more)	UBTF-related disorder	GUncertain significance
Select item 3340057	NM_014233.4(UBTF):c.2003G>A (p.Arg668Gln)	ATXN7L3-AS1, UBTF (R631Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3369850	NM_014233.4(UBTF):c.2002C>T (p.Arg668Trp)	UBTF, ATXN7L3-AS1 (R631W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2589109	NM_014233.4(UBTF):c.1989C>G (p.Asn663Lys)	ATXN7L3-AS1, UBTF (N663K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2647823	NM_014233.4(UBTF):c.1953+3G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2491000	NM_014233.4(UBTF):c.1948T>A (p.Ser650Thr)	ATXN7L3-AS1, UBTF (S650T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2637524	NM_014233.4(UBTF):c.1925G>A (p.Arg642His)	ATXN7L3-AS1, UBTF (R605H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185890	NM_014233.4(UBTF):c.1921G>C (p.Asp641His)	ATXN7L3-AS1, UBTF (D604H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1290098	NM_014233.4(UBTF):c.1906-192_1906-182del	ATXN7L3-AS1, UBTF	Deletion (intron variant)	not provided	GBenign
Select item 1256864	NM_014233.4(UBTF):c.1906-182del	ATXN7L3-AS1, UBTF	Deletion (intron variant)	not provided	GBenign
Select item 1227982	NM_014233.4(UBTF):c.1906-191_1906-182del	ATXN7L3-AS1, UBTF	Deletion (intron variant)	not provided	GBenign
Select item 1250115	NM_014233.4(UBTF):c.1905+168dup	ATXN7L3-AS1, LOC126862574 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 982747	NM_014233.4(UBTF):c.1871A>G (p.Lys624Arg)	ATXN7L3-AS1, UBTF (K587R +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3060402	NM_014233.4(UBTF):c.1836G>A (p.Lys612=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	UBTF-related disorder	GBenign
Select item 1310502	NM_014233.4(UBTF):c.1775C>T (p.Pro592Leu)	ATXN7L3-AS1, UBTF (P555L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502475	NM_014233.4(UBTF):c.1709C>T (p.Pro570Leu)	ATXN7L3-AS1, UBTF (P533L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3069081	NM_014233.4(UBTF):c.1623T>C (p.Tyr541=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1220958	NM_014233.4(UBTF):c.1599G>A (p.Lys533=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2574966	NM_014233.4(UBTF):c.1587G>A (p.Met529Ile)	UBTF, ATXN7L3-AS1 (M492I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365578	NM_014233.4(UBTF):c.1518T>G (p.Asn506Lys)	ATXN7L3-AS1, UBTF (N469K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3033901	NM_014233.4(UBTF):c.1515+9G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	UBTF-related disorder	GLikely benign
Select item 3051054	NM_014233.4(UBTF):c.1515+6_1515+7del	ATXN7L3-AS1, UBTF	Deletion (intron variant)	UBTF-related disorder	GLikely benign
Select item 3035779	NM_014233.4(UBTF):c.1506C>T (p.Ala502=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	UBTF-related disorder	GLikely benign
Select item 2647824	NM_014233.4(UBTF):c.1501C>T (p.Leu501=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2647825	NM_014233.4(UBTF):c.1494C>T (p.Gly498=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2356036	NM_014233.4(UBTF):c.1435G>A (p.Gly479Ser)	ATXN7L3-AS1, LOC121587595 +1 more (G479S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3338503	NM_014233.4(UBTF):c.1426G>A (p.Glu476Lys)	ATXN7L3-AS1, LOC121587595 +1 more (E439K +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GLikely pathogenic
Select item 2596411	NM_014233.4(UBTF):c.1414G>A (p.Gly472Ser)	ATXN7L3-AS1, LOC121587595 +1 more (G435S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3372870	NM_014233.4(UBTF):c.1390A>G (p.Lys464Glu)	ATXN7L3-AS1, LOC121587595 +1 more (K427E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1306068	NM_014233.4(UBTF):c.1387C>T (p.Leu463Phe)	ATXN7L3-AS1, LOC121587595 +1 more (L426F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321963	NM_014233.4(UBTF):c.1375_1380delinsT (p.Arg459fs)	LOC121587595, UBTF +1 more (R422fs +1 more)	Indel (frameshift variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3366102	NM_014233.4(UBTF):c.1367A>T (p.Tyr456Phe)	ATXN7L3-AS1, LOC121587595 +1 more (Y419F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3050205	NM_014233.4(UBTF):c.1365G>A (p.Lys455=)	ATXN7L3-AS1, LOC121587595 +1 more	Single nucleotide variant (synonymous variant +1 more)	UBTF-related disorder	GBenign
Select item 1257054	NM_014233.4(UBTF):c.1359+32A>C	ATXN7L3-AS1, LOC121587595 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1500976	NM_014233.4(UBTF):c.1351AAG[2] (p.Lys453del)	ATXN7L3-AS1, LOC121587595 +1 more (K416del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2326438	NM_014233.4(UBTF):c.1309C>G (p.Leu437Val)	ATXN7L3-AS1, LOC121587595 +1 more (L400V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1307382	NM_014233.4(UBTF):c.1279GAG[1] (p.Glu428del)	ATXN7L3-AS1, LOC121587595 +1 more (E391del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2438462	NM_014233.4(UBTF):c.1199G>T (p.Gly400Val)	ATXN7L3-AS1, LOC121587595 +1 more (G363V +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3365211	NM_014233.4(UBTF):c.1198G>T (p.Gly400Cys)	ATXN7L3-AS1, LOC121587595 +1 more (G363C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2203993	NM_014233.4(UBTF):c.1171G>A (p.Ala391Thr)	ATXN7L3-AS1, LOC121587595 +1 more (A391T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3341442	NM_014233.4(UBTF):c.1163C>T (p.Thr388Ile)	ATXN7L3-AS1, LOC121587595 +1 more (T351I +1 more)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 1268482	NM_014233.4(UBTF):c.1086C>T (p.Leu362=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1708638	NM_014233.4(UBTF):c.1066G>A (p.Val356Met)	ATXN7L3-AS1, UBTF (V319M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2647826	NM_014233.4(UBTF):c.1062C>T (p.Tyr354=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 451269	NM_014233.4(UBTF):c.1047+1G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3353068	NM_014233.4(UBTF):c.954C>T (p.Asp318=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	UBTF-related disorder	GLikely benign
Select item 620473	NM_014233.4(UBTF):c.924C>G (p.Tyr308Ter)	ATXN7L3-AS1, UBTF (Y271* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2505037	NM_014233.4(UBTF):c.906-3T>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1231922	NM_014233.4(UBTF):c.905+27C>T	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879373	NM_014233.4(UBTF):c.901C>A (p.Pro301Thr)	ATXN7L3-AS1, UBTF (P264T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2265684	NM_014233.4(UBTF):c.827G>T (p.Gly276Val)	ATXN7L3-AS1, UBTF (G239V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1333972	NM_014233.4(UBTF):c.785_792delinsCTG (p.Asp262fs)	ATXN7L3-AS1, UBTF (D225fs +1 more)	Indel (frameshift variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3364959	NM_014233.4(UBTF):c.724_725del (p.Arg242fs)	ATXN7L3-AS1, UBTF (R242fs)	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2223220	NM_014233.4(UBTF):c.661-4G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1234392	NM_014233.4(UBTF):c.660+172C>T	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2438464	NM_014233.4(UBTF):c.649G>A (p.Val217Met)	ATXN7L3-AS1, UBTF (V217M)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 437909	NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	UBTF, ATXN7L3-AS1 (E210K)	Single nucleotide variant (missense variant +1 more)	See cases +6 more	GPathogenic/Likely pathogenic
Select item 3345580	NM_014233.4(UBTF):c.540-9C>G	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	UBTF-related disorder	GBenign
Select item 3364371	NM_014233.4(UBTF):c.520C>T (p.Arg174Ter)	ATXN7L3-AS1, UBTF (R174*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1314017	NM_014233.4(UBTF):c.497A>G (p.Gln166Arg)	ATXN7L3-AS1, UBTF (Q166R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1280615	NM_014233.4(UBTF):c.475-129G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575777	NM_014233.4(UBTF):c.474+5G>T	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3363999	NM_014233.4(UBTF):c.443A>G (p.Lys148Arg)	ATXN7L3-AS1, UBTF (K148R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431353	NM_014233.4(UBTF):c.442A>G (p.Lys148Glu)	ATXN7L3-AS1, UBTF (K148E)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 1330567	NM_014233.4(UBTF):c.403C>T (p.Pro135Ser)	ATXN7L3-AS1, UBTF (P135S)	Single nucleotide variant (missense variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3340119	NM_014233.4(UBTF):c.364_379del (p.Phe122fs)	ATXN7L3-AS1, UBTF (F122fs)	Deletion (frameshift variant +1 more)	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	GUncertain significance
Select item 3371201	NM_014233.4(UBTF):c.349A>T (p.Thr117Ser)	ATXN7L3-AS1, UBTF (T117S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343426	NM_014233.4(UBTF):c.335C>T (p.Pro112Leu)	ATXN7L3-AS1, UBTF (P112L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3351940	NM_014233.4(UBTF):c.319-10C>T	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	UBTF-related disorder	GLikely benign
Select item 1280151	NM_014233.4(UBTF):c.318+29G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343758	NM_014233.4(UBTF):c.292A>G (p.Asn98Asp)	ATXN7L3-AS1, UBTF (N98D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504358	NM_014233.4(UBTF):c.271G>C (p.Asp91His)	ATXN7L3-AS1, UBTF (D91H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1225426	NM_014233.4(UBTF):c.235-26C>G	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334665	NM_014233.4(UBTF):c.185A>G (p.Asp62Gly)	ATXN7L3-AS1, UBTF (D62G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1303938	NM_014233.4(UBTF):c.166G>T (p.Glu56Ter)	ATXN7L3-AS1, UBTF (E56*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2443657	NM_014233.4(UBTF):c.159G>C (p.Met53Ile)	ATXN7L3-AS1, UBTF (M53I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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