OTUB2[gene] - ClinVar

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Items: 49

	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 2219072	NM_023112.4(OTUB2):c.85C>T (p.Arg29Trp)	OTUB2 (R29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207346	NM_023112.4(OTUB2):c.86G>A (p.Arg29Gln)	OTUB2 (R29Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290177	NM_023112.4(OTUB2):c.89G>A (p.Arg30Lys)	OTUB2 (R30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495463	NM_023112.4(OTUB2):c.103C>G (p.Leu35Val)	OTUB2 (L35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602984	NM_023112.4(OTUB2):c.111A>C (p.Lys37Asn)	OTUB2 (K37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369126	NM_023112.4(OTUB2):c.121G>A (p.Ala41Thr)	OTUB2 (A41T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377635	NM_023112.4(OTUB2):c.127C>T (p.Arg43Cys)	OTUB2 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392913	NM_023112.4(OTUB2):c.142G>C (p.Asp48His)	OTUB2 (D48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410329	NM_023112.4(OTUB2):c.229C>T (p.Arg77Cys)	OTUB2 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303679	NM_023112.4(OTUB2):c.230G>A (p.Arg77His)	OTUB2 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303678	NM_023112.4(OTUB2):c.241A>G (p.Thr81Ala)	OTUB2 (T81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207343	NM_023112.4(OTUB2):c.325G>A (p.Val109Ile)	OTUB2 (V109I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522107	NM_023112.4(OTUB2):c.416C>T (p.Thr139Met)	OTUB2 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207344	NM_023112.4(OTUB2):c.436C>G (p.Arg146Gly)	OTUB2 (R146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303676	NM_023112.4(OTUB2):c.451C>T (p.Arg151Trp)	OTUB2 (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219683	NM_023112.4(OTUB2):c.460A>G (p.Ile154Val)	OTUB2 (I154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495464	NM_023112.4(OTUB2):c.488T>A (p.Phe163Tyr)	OTUB2 (F163Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303677	NM_023112.4(OTUB2):c.513G>A (p.Met171Ile)	OTUB2 (M171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466634	NM_023112.4(OTUB2):c.518C>T (p.Thr173Met)	OTUB2 (T173M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2482520	NM_023112.4(OTUB2):c.592G>A (p.Glu198Lys)	OTUB2 (E198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388924	NM_023112.4(OTUB2):c.619G>A (p.Val207Met)	OTUB2 (V207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234962	NM_023112.4(OTUB2):c.641C>A (p.Pro214His)	OTUB2 (P214H)	Single nucleotide variant (missense variant)	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 1526435	GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)	ASB2, DDX24 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
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

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Items: 49