ClinVar for Gene (Select 63893) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330576	NM_022066.4(UBE2O):c.1824G>T (p.Gln608His)	UBE2O (Q608H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330575	NM_022066.4(UBE2O):c.2389G>A (p.Gly797Arg)	UBE2O (G797R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330574	NM_022066.4(UBE2O):c.2273C>T (p.Pro758Leu)	UBE2O (P758L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330573	NM_022066.4(UBE2O):c.284G>C (p.Gly95Ala)	UBE2O (G95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330572	NM_022066.4(UBE2O):c.2524G>A (p.Val842Met)	UBE2O (V842M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330571	NM_022066.4(UBE2O):c.2273C>A (p.Pro758His)	UBE2O (P758H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330570	NM_022066.4(UBE2O):c.3680C>T (p.Ser1227Leu)	UBE2O (S1227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330569	NM_022066.4(UBE2O):c.1609G>A (p.Asp537Asn)	UBE2O (D537N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330567	NM_022066.4(UBE2O):c.589C>T (p.Pro197Ser)	UBE2O (P197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330566	NM_022066.4(UBE2O):c.1228C>T (p.His410Tyr)	UBE2O (H410Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330565	NM_022066.4(UBE2O):c.1276G>A (p.Glu426Lys)	UBE2O (E426K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185551	NM_022066.4(UBE2O):c.643G>A (p.Asp215Asn)	UBE2O (D215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185550	NM_022066.4(UBE2O):c.554A>G (p.Tyr185Cys)	UBE2O (Y185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185549	NM_022066.4(UBE2O):c.523G>A (p.Val175Ile)	UBE2O (V175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185548	NM_022066.4(UBE2O):c.395A>G (p.Lys132Arg)	UBE2O (K132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185547	NM_022066.4(UBE2O):c.3809G>A (p.Arg1270Gln)	UBE2O (R1270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185545	NM_022066.4(UBE2O):c.3361G>A (p.Glu1121Lys)	UBE2O (E1121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185544	NM_022066.4(UBE2O):c.2650G>A (p.Asp884Asn)	UBE2O (D884N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185543	NM_022066.4(UBE2O):c.2021A>T (p.Asp674Val)	UBE2O (D674V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185542	NM_022066.4(UBE2O):c.1705C>T (p.Arg569Cys)	UBE2O (R569C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185541	NM_022066.4(UBE2O):c.1574G>A (p.Arg525His)	UBE2O (R525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185540	NM_022066.4(UBE2O):c.1505C>G (p.Thr502Ser)	UBE2O (T502S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185539	NM_022066.4(UBE2O):c.1342G>A (p.Glu448Lys)	UBE2O (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648315	NM_022066.4(UBE2O):c.477C>T (p.Thr159=)	UBE2O	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623862	NM_022066.4(UBE2O):c.3421C>T (p.Arg1141Cys)	UBE2O (R1141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623177	NM_022066.4(UBE2O):c.1316C>T (p.Ser439Phe)	UBE2O (S439F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613055	NM_022066.4(UBE2O):c.34C>T (p.Pro12Ser)	UBE2O (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608458	NM_022066.4(UBE2O):c.3494C>T (p.Ala1165Val)	UBE2O (A1165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602419	NM_022066.4(UBE2O):c.1573C>T (p.Arg525Cys)	UBE2O (R525C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601409	NM_022066.4(UBE2O):c.989A>G (p.Gln330Arg)	UBE2O (Q330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554716	NM_022066.4(UBE2O):c.271G>A (p.Gly91Ser)	UBE2O (G91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553735	NM_022066.4(UBE2O):c.1801C>T (p.Pro601Ser)	UBE2O (P601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552061	NM_022066.4(UBE2O):c.3503C>T (p.Ser1168Leu)	UBE2O (S1168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549136	NM_022066.4(UBE2O):c.1322G>T (p.Ser441Ile)	UBE2O (S441I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523561	NM_022066.4(UBE2O):c.1130A>C (p.Gln377Pro)	UBE2O (Q377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520475	NM_022066.4(UBE2O):c.3530T>C (p.Leu1177Pro)	UBE2O (L1177P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511229	NM_022066.4(UBE2O):c.2456A>G (p.Lys819Arg)	UBE2O (K819R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488370	NM_022066.4(UBE2O):c.217T>A (p.Ser73Thr)	UBE2O (S73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487786	NM_022066.4(UBE2O):c.1144A>G (p.Met382Val)	UBE2O (M382V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479374	NM_022066.4(UBE2O):c.374A>T (p.Gln125Leu)	UBE2O (Q125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457075	NM_022066.4(UBE2O):c.2022T>G (p.Asp674Glu)	UBE2O (D674E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407527	NM_022066.4(UBE2O):c.1007T>C (p.Val336Ala)	UBE2O (V336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398549	NM_022066.4(UBE2O):c.1280C>T (p.Ala427Val)	UBE2O (A427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393482	NM_022066.4(UBE2O):c.3821C>T (p.Thr1274Met)	UBE2O (T1274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382304	NM_022066.4(UBE2O):c.3409C>T (p.Arg1137Trp)	UBE2O (R1137W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382037	NM_022066.4(UBE2O):c.470G>A (p.Arg157Gln)	UBE2O (R157Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381103	NM_022066.4(UBE2O):c.3671C>T (p.Pro1224Leu)	UBE2O (P1224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373225	NM_022066.4(UBE2O):c.3418A>G (p.Asn1140Asp)	UBE2O (N1140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351738	NM_022066.4(UBE2O):c.1535G>A (p.Arg512His)	UBE2O (R512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351007	NM_022066.4(UBE2O):c.468G>C (p.Met156Ile)	UBE2O (M156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348154	NM_022066.4(UBE2O):c.682G>A (p.Ala228Thr)	UBE2O (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341521	NM_022066.4(UBE2O):c.1987G>A (p.Gly663Ser)	UBE2O (G663S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334438	NM_022066.4(UBE2O):c.3620G>A (p.Gly1207Asp)	UBE2O (G1207D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333255	NM_022066.4(UBE2O):c.143C>T (p.Ser48Leu)	UBE2O (S48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320691	NM_022066.4(UBE2O):c.915A>C (p.Lys305Asn)	UBE2O (K305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273696	NM_022066.4(UBE2O):c.43G>T (p.Ala15Ser)	UBE2O (A15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271605	NM_022066.4(UBE2O):c.1649C>G (p.Thr550Ser)	UBE2O (T550S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262421	NM_022066.4(UBE2O):c.2272C>T (p.Pro758Ser)	UBE2O (P758S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260424	NM_022066.4(UBE2O):c.515A>G (p.Asp172Gly)	UBE2O (D172G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231423	NM_022066.4(UBE2O):c.2653G>A (p.Val885Ile)	UBE2O (V885I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218008	NM_022066.4(UBE2O):c.2384T>C (p.Met795Thr)	UBE2O (M795T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215312	NM_022066.4(UBE2O):c.337C>T (p.Arg113Trp)	UBE2O (R113W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 784363	NM_022066.4(UBE2O):c.2352C>T (p.Ala784=)	UBE2O	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687943	GRCh37/hg19 17q25.1(chr17:74286105-74413899)x3	PRPSAP1, QRICH2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687411	GRCh37/hg19 17q25.1(chr17:74401337-74574103)x3	AANAT, CYGB +4 more	Copy number gain	not provided	GUncertain significance
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 78