UBE4B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 153432	GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	CLSTN1, CTNNBIP1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 737412	NM_001105562.3(UBE4B):c.24+9G>T	UBE4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3185652	NM_001105562.3(UBE4B):c.92C>T (p.Ser31Phe)	UBE4B (S31F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185634	NM_001105562.3(UBE4B):c.142G>A (p.Gly48Arg)	UBE4B (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244080	NM_001105562.3(UBE4B):c.180G>A (p.Met60Ile)	UBE4B (M60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260573	NM_001105562.3(UBE4B):c.215T>G (p.Val72Gly)	UBE4B (V72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185643	NM_001105562.3(UBE4B):c.260G>C (p.Ser87Thr)	UBE4B (S87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775508	NM_001105562.3(UBE4B):c.348-3A>C	UBE4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638194	NM_001105562.3(UBE4B):c.435+11G>A	UBE4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638195	NM_001105562.3(UBE4B):c.435+12A>G	UBE4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3185648	NM_001105562.3(UBE4B):c.468G>C (p.Glu156Asp)	UBE4B (E156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208477	NM_001105562.3(UBE4B):c.578A>G (p.Glu193Gly)	UBE4B (E193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558933	NM_001105562.3(UBE4B):c.587C>G (p.Ser196Cys)	UBE4B (S196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185649	NM_001105562.3(UBE4B):c.619A>T (p.Met207Leu)	UBE4B (M207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233325	NM_001105562.3(UBE4B):c.634A>T (p.Met212Leu)	UBE4B (M212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316019	NM_001105562.3(UBE4B):c.635T>C (p.Met212Thr)	UBE4B (M212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185650	NM_001105562.3(UBE4B):c.791G>T (p.Gly264Val)	UBE4B (G264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510396	NM_001105562.3(UBE4B):c.872C>T (p.Pro291Leu)	UBE4B (P291L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382473	NM_001105562.3(UBE4B):c.893G>A (p.Arg298His)	UBE4B (R298H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521102	NM_001105562.3(UBE4B):c.931A>G (p.Ser311Gly)	UBE4B (S311G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383311	NM_001105562.3(UBE4B):c.983C>T (p.Pro328Leu)	UBE4B (P328L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344346	NM_001105562.3(UBE4B):c.1022C>T (p.Ser341Phe)	UBE4B (S341F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209349	NM_001105562.3(UBE4B):c.1051C>T (p.Pro351Ser)	UBE4B (P351S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541274	NM_001105562.3(UBE4B):c.1057C>A (p.Pro353Thr)	UBE4B (P353T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331863	NM_001105562.3(UBE4B):c.1060C>G (p.Pro354Ala)	UBE4B (P354A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568882	NM_001105562.3(UBE4B):c.1072A>G (p.Ser358Gly)	UBE4B (S358G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521602	NM_001105562.3(UBE4B):c.1111A>T (p.Arg371Trp)	UBE4B (R371W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185630	NM_001105562.3(UBE4B):c.1160C>T (p.Thr387Met)	UBE4B (T387M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185631	NM_001105562.3(UBE4B):c.1180C>G (p.Leu394Val)	UBE4B (L394V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 3185632	NM_001105562.3(UBE4B):c.1257A>T (p.Glu419Asp)	UBE4B (E419D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185633	NM_001105562.3(UBE4B):c.1261T>C (p.Cys421Arg)	UBE4B (C421R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403404	NM_001105562.3(UBE4B):c.1322A>G (p.Glu441Gly)	UBE4B (E312G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231941	NM_001105562.3(UBE4B):c.1336A>G (p.Lys446Glu)	UBE4B (K317E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781773	NM_001105562.3(UBE4B):c.1339-9C>T	UBE4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783925	NM_001105562.3(UBE4B):c.1383C>T (p.Arg461=)	UBE4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3185635	NM_001105562.3(UBE4B):c.1613G>C (p.Ser538Thr)	UBE4B (S409T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185636	NM_001105562.3(UBE4B):c.1631C>T (p.Pro544Leu)	UBE4B (P595L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185637	NM_001105562.3(UBE4B):c.1646G>A (p.Gly549Asp)	UBE4B (G600D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638196	NM_001105562.3(UBE4B):c.1866T>C (p.Thr622=)	UBE4B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3185639	NM_001105562.3(UBE4B):c.1901A>C (p.Glu634Ala)	UBE4B (E634A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185640	NM_001105562.3(UBE4B):c.2059A>G (p.Met687Val)	UBE4B (M738V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185641	NM_001105562.3(UBE4B):c.2126C>T (p.Thr709Met)	UBE4B (T580M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778206	NM_001105562.3(UBE4B):c.2165A>G (p.Asn722Ser)	UBE4B (N593S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3185642	NM_001105562.3(UBE4B):c.2177G>A (p.Arg726His)	UBE4B (R726H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222916	NM_001105562.3(UBE4B):c.2317T>G (p.Cys773Gly)	UBE4B (C644G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559737	NM_001105562.3(UBE4B):c.2342G>A (p.Arg781Gln)	UBE4B (R832Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346431	NM_001105562.3(UBE4B):c.2624A>G (p.Lys875Arg)	UBE4B (K875R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514071	NM_001105562.3(UBE4B):c.2702A>C (p.Gln901Pro)	UBE4B (Q901P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302276	NM_001105562.3(UBE4B):c.2746G>C (p.Val916Leu)	UBE4B (V916L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638197	NM_001105562.3(UBE4B):c.3225G>C (p.Gln1075His)	UBE4B (Q1075H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262993	NM_001105562.3(UBE4B):c.3248C>G (p.Ser1083Cys)	UBE4B (S1083C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572277	NM_001105562.3(UBE4B):c.3292del (p.His1098fs)	UBE4B (H1098fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2430067	NM_001105562.3(UBE4B):c.3307C>T (p.Gln1103Ter)	UBE4B (Q1103* +2 more)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 2294955	NM_001105562.3(UBE4B):c.3622G>A (p.Ala1208Thr)	UBE4B (A1208T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594955	NM_001105562.3(UBE4B):c.3656C>T (p.Ala1219Val)	UBE4B (A1090V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609130	NM_001105562.3(UBE4B):c.3661G>A (p.Ala1221Thr)	UBE4B (A1272T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185645	NM_001105562.3(UBE4B):c.3670G>A (p.Asp1224Asn)	UBE4B (D1095N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185646	NM_001105562.3(UBE4B):c.3703C>T (p.Pro1235Ser)	UBE4B (P1286S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242029	NM_001105562.3(UBE4B):c.3729C>A (p.Asp1243Glu)	UBE4B (D1294E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294469	NM_001105562.3(UBE4B):c.3737G>A (p.Arg1246Gln)	UBE4B (R1117Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185647	NM_001105562.3(UBE4B):c.3796C>G (p.Pro1266Ala)	UBE4B (P1266A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731577	NM_001105562.3(UBE4B):c.3813C>T (p.Asn1271=)	UBE4B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2610881	NM_001105562.3(UBE4B):c.3814C>T (p.Arg1272Trp)	UBE4B (R1272W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	ACOT7, AGTRAP +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	CENPS, CENPS-CORT +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 831335	NC_000001.10:g.(?_9770494)_(10690064_?)del	PIK3CD, RBP7 +12 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 684888	GRCh37/hg19 1p36.22(chr1:10047935-10229413)x1	RBP7, UBE4B	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 565073	GRCh37/hg19 1p36.22(chr1:9723166-10340866)x3	KIF1B, CLSTN1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic

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