UBE4A[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 3337727	NM_001204077.2(UBE4A):c.3G>A (p.Met1Ile)	UBE4A (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2454969	NM_001204077.2(UBE4A):c.10C>A (p.Gln4Lys)	UBE4A (Q4K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330610	NM_001204077.2(UBE4A):c.59G>C (p.Gly20Ala)	UBE4A (G20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3330617	NM_001204077.2(UBE4A):c.143A>C (p.Asp48Ala)	UBE4A (D48A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222414	NM_001204077.2(UBE4A):c.160G>A (p.Val54Met)	UBE4A (V54M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505262	NM_001204077.2(UBE4A):c.217C>T (p.Arg73Ter)	UBE4A (R73*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GLikely pathogenic
Select item 3330612	NM_001204077.2(UBE4A):c.218G>A (p.Arg73Gln)	UBE4A (R73Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398824	NM_001204077.2(UBE4A):c.309G>C (p.Leu103Phe)	UBE4A (L103F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642413	NM_001204077.2(UBE4A):c.318G>C (p.Gly106=)	UBE4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252766	NM_001204077.2(UBE4A):c.335G>A (p.Arg112His)	UBE4A (R112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326859	NM_001204077.2(UBE4A):c.384G>A (p.Trp128Ter)	UBE4A (W128*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	GPathogenic
Select item 3185628	NM_001204077.2(UBE4A):c.476C>T (p.Thr159Met)	UBE4A (T159M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642414	NM_001204077.2(UBE4A):c.519T>A (p.Ile173=)	UBE4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3031923	NM_001204077.2(UBE4A):c.626A>G (p.Asn209Ser)	UBE4A (N209S)	Single nucleotide variant (missense variant)	UBE4A-related disorder	GUncertain significance
Select item 1326860	NM_001204077.2(UBE4A):c.631C>T (p.Arg211Ter)	UBE4A (R211*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2215612	NM_001204077.2(UBE4A):c.640C>T (p.Leu214Phe)	UBE4A (L214F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060556	NM_001204077.2(UBE4A):c.714G>C (p.Gln238His)	UBE4A (Q238H)	Single nucleotide variant (missense variant)	UBE4A-related disorder	GUncertain significance
Select item 3185629	NM_001204077.2(UBE4A):c.721+20C>G	UBE4A (I247M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2301216	NM_001204077.2(UBE4A):c.739G>C (p.Glu247Gln)	UBE4A (E254Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251883	NM_001204077.2(UBE4A):c.833G>C (p.Gly278Ala)	UBE4A (G278A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527321	NM_001204077.2(UBE4A):c.886A>G (p.Ile296Val)	UBE4A (I296V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327603	NM_001204077.2(UBE4A):c.889C>A (p.Leu297Ile)	UBE4A (L297I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335613	NM_001204077.2(UBE4A):c.918G>A (p.Met306Ile)	UBE4A (M313I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3336161	NM_001204077.2(UBE4A):c.955C>G (p.Pro319Ala)	UBE4A (P319A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1333516	NM_001204077.2(UBE4A):c.992del (p.Gly331fs)	UBE4A (G331fs +1 more)	Deletion (frameshift variant)	UBE4A-related disorder	GPathogenic
Select item 2316060	NM_001204077.2(UBE4A):c.1006A>G (p.Ile336Val)	UBE4A (I336V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330619	NM_001204077.2(UBE4A):c.1049G>A (p.Gly350Asp)	UBE4A (G350D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185615	NM_001204077.2(UBE4A):c.1072T>A (p.Ser358Thr)	UBE4A (S365T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330613	NM_001204077.2(UBE4A):c.1089C>G (p.Ile363Met)	UBE4A (I363M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185616	NM_001204077.2(UBE4A):c.1171C>G (p.Leu391Val)	UBE4A (L398V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309115	NM_001204077.2(UBE4A):c.1183A>T (p.Thr395Ser)	UBE4A (T402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 617553	NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs)	UBE4A (K396fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and gross motor and speech delay +3 more	GPathogenic/Likely pathogenic
Select item 2412716	NM_001204077.2(UBE4A):c.1214_1215del (p.Asn405fs)	UBE4A (N405fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 977280	NM_001204077.2(UBE4A):c.1217_1218del (p.Cys406fs)	UBE4A (C406fs +1 more)	Deletion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2631375	NM_001204077.2(UBE4A):c.1223A>T (p.His408Leu)	UBE4A (H408L +1 more)	Single nucleotide variant (missense variant)	UBE4A-related disorder	GUncertain significance
Select item 2489846	NM_001204077.2(UBE4A):c.1225G>A (p.Ala409Thr)	UBE4A (A409T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520493	NM_001204077.2(UBE4A):c.1284G>C (p.Met428Ile)	UBE4A (M428I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321671	NM_001204077.2(UBE4A):c.1284G>A (p.Met428Ile)	UBE4A (M428I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185618	NM_001204077.2(UBE4A):c.1291T>G (p.Ser431Ala)	UBE4A (S431A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302194	NM_001204077.2(UBE4A):c.1348T>A (p.Cys450Ser)	UBE4A (C457S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330609	NM_001204077.2(UBE4A):c.1400T>C (p.Leu467Pro)	UBE4A (L467P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185619	NM_001204077.2(UBE4A):c.1418A>G (p.Glu473Gly)	UBE4A (E473G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368040	NM_001204077.2(UBE4A):c.1424G>A (p.Arg475Gln)	UBE4A (R482Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2207094	NM_001204077.2(UBE4A):c.1436A>G (p.Asn479Ser)	UBE4A (N479S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330611	NM_001204077.2(UBE4A):c.1534G>T (p.Ala512Ser)	UBE4A (A512S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253153	NM_001204077.2(UBE4A):c.1578T>A (p.His526Gln)	UBE4A (H526Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353288	NM_001204077.2(UBE4A):c.1657G>T (p.Ala553Ser)	UBE4A (A553S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371815	NM_001204077.2(UBE4A):c.1666A>G (p.Asn556Asp)	UBE4A (N556D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185620	NM_001204077.2(UBE4A):c.1672C>T (p.Arg558Cys)	UBE4A (R565C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407869	NM_001204077.2(UBE4A):c.1673G>A (p.Arg558His)	UBE4A (R558H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642415	NM_001204077.2(UBE4A):c.1782A>G (p.Leu594=)	UBE4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185621	NM_001204077.2(UBE4A):c.1847A>G (p.Asp616Gly)	UBE4A (D616G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330618	NM_001204077.2(UBE4A):c.1886C>T (p.Ala629Val)	LOC100131626, UBE4A (A636V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224870	NM_001204077.2(UBE4A):c.1918C>T (p.Arg640Cys)	LOC100131626, UBE4A (R640C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330616	NM_001204077.2(UBE4A):c.1978T>C (p.Phe660Leu)	LOC100131626, UBE4A (F660L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330615	NM_001204077.2(UBE4A):c.2002A>G (p.Ile668Val)	LOC100131626, UBE4A (I675V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3185622	NM_001204077.2(UBE4A):c.2019T>A (p.Asn673Lys)	LOC100131626, UBE4A (N673K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269538	NM_001204077.2(UBE4A):c.2072T>C (p.Leu691Pro)	LOC100131626, UBE4A (L691P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384921	NM_001204077.2(UBE4A):c.2114G>A (p.Arg705Gln)	LOC100131626, UBE4A (R705Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185623	NM_001204077.2(UBE4A):c.2120G>A (p.Arg707His)	LOC100131626, UBE4A (R714H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3336196	NM_001204077.2(UBE4A):c.2121T>A (p.Arg707=)	UBE4A, LOC100131626	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3185624	NM_001204077.2(UBE4A):c.2185A>G (p.Ile729Val)	LOC100131626, UBE4A (I729V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330614	NM_001204077.2(UBE4A):c.2285G>A (p.Arg762Gln)	LOC100131626, UBE4A (R762Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185625	NM_001204077.2(UBE4A):c.2322G>C (p.Lys774Asn)	LOC100131626, UBE4A (K774N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3337728	NM_001204077.2(UBE4A):c.2412+2dup	LOC100131626, UBE4A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 403581	NM_001204077.2(UBE4A):c.2412+23del	LOC100131626, UBE4A	Deletion (intron variant)	not specified	GBenign
Select item 2383464	NM_001204077.2(UBE4A):c.2453G>A (p.Arg818Gln)	LOC100131626, UBE4A (R818Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293835	NM_001204077.2(UBE4A):c.2786G>A (p.Cys929Tyr)	LOC100131626, UBE4A (C936Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185627	NM_001204077.2(UBE4A):c.2834C>T (p.Ala945Val)	LOC100131626, UBE4A (A952V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726887	NM_001204077.2(UBE4A):c.2835A>G (p.Ala945=)	LOC100131626, UBE4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2301668	NM_001204077.2(UBE4A):c.2989A>T (p.Met997Leu)	LOC100131626, UBE4A (M1004L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380049	NM_001204077.2(UBE4A):c.3157C>T (p.Arg1053Trp)	LOC100131626, UBE4A (R1053W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	APOC3, ARCN1 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1007237	NC_000011.9:g.(?_117856768)_(118972385_?)dup	ARCN1, ATP5MG +31 more	Duplication	Inflammatory bowel disease 28 +4 more	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 831101	NC_000011.9:g.(?_117856768)_(118972385_?)del	ARCN1, ATP5MG +31 more	Deletion	Combined immunodeficiency due to CD3gamma deficiency +3 more	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	CD3G, CDON +160 more	Copy number gain	not provided	GPathogenic
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2