UBTF[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +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 condition	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 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 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 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 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 condition	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 3033901	NM_014233.4(UBTF):c.1515+9G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	UBTF-related condition	GLikely benign
Select item 3051054	NM_014233.4(UBTF):c.1515+6_1515+7del	ATXN7L3-AS1, UBTF	Deletion (intron variant)	UBTF-related condition	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 condition	GLikely benign
Select item 2647824	NM_014233.4(UBTF):c.1501C>T (p.Leu501=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	UBTF-related condition +1 more	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 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 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 3050205	NM_014233.4(UBTF):c.1365G>A (p.Lys455=)	ATXN7L3-AS1, LOC121587595 +1 more	Single nucleotide variant (synonymous variant +1 more)	UBTF-related condition	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 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 1268482	NM_014233.4(UBTF):c.1086C>T (p.Leu362=)	ATXN7L3-AS1, UBTF	Single nucleotide variant (synonymous variant +1 more)	UBTF-related condition +1 more	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 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 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)	ATXN7L3-AS1, UBTF (E210K)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
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 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 1280151	NM_014233.4(UBTF):c.318+29G>A	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
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)	UBTF, ATXN7L3-AS1 (D62G)	Single nucleotide variant (missense variant +1 more)	not provided	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
Select item 3069083	NM_014233.4(UBTF):c.122A>G (p.Asn41Ser)	UBTF, ATXN7L3-AS1 (N41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1306209	NM_014233.4(UBTF):c.81G>A (p.Met27Ile)	UBTF, ATXN7L3-AS1 (M27I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278288	NM_014233.4(UBTF):c.59-126C>G	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231668	NM_014233.4(UBTF):c.59-143C>T	ATXN7L3-AS1, UBTF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446071	NM_014233.4(UBTF):c.14C>G (p.Ala5Gly)	UBTF, ATXN7L3-AS1 (A5G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1802090	NM_014233.4(UBTF):c.-67-1G>C	ATXN7L3-AS1, UBTF	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1231772	NM_014233.4(UBTF):c.-67-161G>C	UBTF, ATXN7L3-AS1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1340600	GRCh37/hg19 17q21.31(chr17:42085508-42361563)x3	ASB16, ATXN7L3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 832076	NC_000017.11:g.(?_44027807)_(44352876_?)dup	ASB16, ATXN7L3 +10 more	Duplication	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89