UBR7[gene] - ClinVar

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

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 2325356	NM_175748.4(UBR7):c.7G>C (p.Gly3Arg)	UBR7 (G3R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381889	NM_175748.4(UBR7):c.22G>A (p.Ala8Thr)	UBR7 (A8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381891	NM_175748.4(UBR7):c.23C>A (p.Ala8Asp)	UBR7 (A8D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508331	NM_175748.4(UBR7):c.29G>A (p.Arg10Gln)	UBR7 (R10Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1294425	NM_175748.4(UBR7):c.35_54dup (p.Ser19fs)	UBR7 (S19fs)	Duplication (frameshift variant +1 more)	Intellectual disability, mild	GPathogenic
Select item 997415	NM_175748.4(UBR7):c.37G>T (p.Glu13Ter)	UBR7 (E13*)	Single nucleotide variant (nonsense +1 more)	Li-Campeau syndrome	GPathogenic
Select item 3185877	NM_175748.4(UBR7):c.59T>G (p.Leu20Trp)	UBR7 (L20W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3343652	NM_175748.4(UBR7):c.113T>C (p.Leu38Pro)	UBR7 (L38P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1339353	NM_175748.4(UBR7):c.166C>T (p.Gln56Ter)	UBR7 (Q56*)	Single nucleotide variant (nonsense)	Li-Campeau syndrome	GLikely pathogenic
Select item 3066045	NM_175748.4(UBR7):c.227T>G (p.Leu76Ter)	UBR7 (L76*)	Single nucleotide variant (nonsense)	Li-Campeau syndrome	GLikely pathogenic
Select item 2303016	NM_175748.4(UBR7):c.236G>C (p.Ser79Thr)	UBR7 (S79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644472	NM_175748.4(UBR7):c.249T>C (p.His83=)	UBR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644473	NM_175748.4(UBR7):c.276C>T (p.Tyr92=)	UBR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 207868	NM_175748.4(UBR7):c.293G>A (p.Arg98His)	UBR7 (R98H)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
Select item 2290672	NM_175748.4(UBR7):c.406A>G (p.Ile136Val)	UBR7 (I136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644474	NM_175748.4(UBR7):c.466G>A (p.Val156Ile)	UBR7 (V156I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644475	NM_175748.4(UBR7):c.468A>G (p.Val156=)	UBR7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 997417	NM_175748.4(UBR7):c.496-2A>G	UBR7	Single nucleotide variant (splice acceptor variant)	Li-Campeau syndrome	GPathogenic
Select item 997416	NM_175748.4(UBR7):c.564_565dup (p.Cys189fs)	UBR7 (C189fs)	Duplication (frameshift variant +1 more)	Li-Campeau syndrome	GPathogenic
Select item 2644476	NM_175748.4(UBR7):c.574T>C (p.Leu192=)	UBR7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2361835	NM_175748.4(UBR7):c.587C>T (p.Ala196Val)	UBR7 (A196V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 997419	NM_175748.4(UBR7):c.618del (p.Glu207fs)	UBR7 (E207fs)	Deletion (frameshift variant +1 more)	Li-Campeau syndrome	GConflicting classifications of pathogenicity
Select item 2556665	NM_175748.4(UBR7):c.650G>T (p.Gly217Val)	UBR7 (G66V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511555	NM_175748.4(UBR7):c.736G>A (p.Asp246Asn)	UBR7 (D246N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185878	NM_175748.4(UBR7):c.755A>C (p.Lys252Thr)	UBR7 (K252T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470701	NM_175748.4(UBR7):c.862C>T (p.Leu288Phe)	UBR7 (L137F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1292050	NM_175748.4(UBR7):c.863T>C (p.Leu288Pro)	UBR7 (L288P)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 2468447	NM_175748.4(UBR7):c.886C>T (p.Leu296Phe)	UBR7 (L145F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3065057	NM_175748.4(UBR7):c.1132G>A (p.Asp378Asn)	UBR7 (D227N +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Campeau syndrome	GUncertain significance
Select item 997420	NM_175748.4(UBR7):c.1186-1G>C	UBR7	Single nucleotide variant (splice acceptor variant)	Li-Campeau syndrome	GPathogenic
Select item 3066044	NM_175748.4(UBR7):c.1207C>T (p.Gln403Ter)	UBR7 (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	Li-Campeau syndrome	GLikely pathogenic
Select item 2505740	NM_175748.4(UBR7):c.1240AGA[2] (p.Arg416del)	UBR7 (R416del)	Microsatellite (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2476577	NM_175748.4(UBR7):c.1260G>A (p.Met420Ile)	UBR7 (M420I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185875	NM_175748.4(UBR7):c.1264T>A (p.Tyr422Asn)	UBR7 (Y271N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 997418	NC_000014.8:g.93660388_93690906del	GON7, UBR7	Deletion	Li-Campeau syndrome	GPathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 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: 60