ClinVar for Gene (Select 85417) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2660549	NM_033031.3(CCNB3):c.4092-6T>C	CCNB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660548	NM_033031.3(CCNB3):c.3235G>C (p.Val1079Leu)	CCNB3 (V1079L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660547	NM_033031.3(CCNB3):c.3235G>A (p.Val1079Met)	CCNB3 (V1079M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660546	NM_033031.3(CCNB3):c.2376G>A (p.Ala792=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660545	NM_033031.3(CCNB3):c.2187G>A (p.Leu729=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660544	NM_033031.3(CCNB3):c.2145G>A (p.Glu715=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660543	NM_033031.3(CCNB3):c.744G>A (p.Ser248=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660542	NM_033031.3(CCNB3):c.255T>C (p.Phe85=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622017	NM_033031.3(CCNB3):c.1661A>C (p.Asp554Ala)	CCNB3 (D554A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622016	NM_033031.3(CCNB3):c.1302A>C (p.Glu434Asp)	CCNB3 (E434D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612610	NM_033031.3(CCNB3):c.707G>A (p.Cys236Tyr)	CCNB3 (C236Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611723	NM_033031.3(CCNB3):c.1223C>G (p.Ser408Cys)	CCNB3 (S408C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597183	NM_033031.3(CCNB3):c.583C>T (p.Pro195Ser)	CCNB3 (P195S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2590962	NM_033031.3(CCNB3):c.124T>C (p.Ser42Pro)	CCNB3 (S42P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547922	NM_033031.3(CCNB3):c.1346C>T (p.Ser449Phe)	CCNB3 (S449F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539085	NM_033031.3(CCNB3):c.670A>G (p.Ile224Val)	CCNB3 (I224V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532964	NM_033031.3(CCNB3):c.3622G>A (p.Ala1208Thr)	CCNB3 (A104T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532595	NM_033031.3(CCNB3):c.1673A>G (p.Glu558Gly)	CCNB3 (E558G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529996	NM_033031.3(CCNB3):c.3088C>T (p.Pro1030Ser)	CCNB3 (P1030S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527274	NM_033031.3(CCNB3):c.3589G>A (p.Val1197Ile)	CCNB3 (V1197I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2525977	NM_033031.3(CCNB3):c.2498T>C (p.Leu833Ser)	CCNB3 (L833S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525331	NM_033031.3(CCNB3):c.4105G>A (p.Val1369Ile)	CCNB3 (V265I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523899	NM_033031.3(CCNB3):c.1489A>C (p.Thr497Pro)	CCNB3 (T497P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519706	NM_033031.3(CCNB3):c.3671G>A (p.Arg1224His)	CCNB3 (R120H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513974	NM_033031.3(CCNB3):c.2314A>G (p.Ile772Val)	CCNB3 (I772V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2494964	NM_033031.3(CCNB3):c.3168C>A (p.Ser1056Arg)	CCNB3 (S1056R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460567	NM_033031.3(CCNB3):c.800G>A (p.Ser267Asn)	CCNB3 (S267N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2458411	NM_033031.3(CCNB3):c.1543G>A (p.Gly515Arg)	CCNB3 (G515R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2406688	NM_033031.3(CCNB3):c.4097T>C (p.Phe1366Ser)	CCNB3 (F1366S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394720	NM_033031.3(CCNB3):c.3796C>T (p.Arg1266Cys)	CCNB3 (R1266C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384830	NM_033031.3(CCNB3):c.3351T>A (p.Asp1117Glu)	CCNB3 (D1117E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382641	NM_033031.3(CCNB3):c.1889C>T (p.Thr630Met)	CCNB3 (T630M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379502	NM_033031.3(CCNB3):c.2258C>G (p.Ser753Cys)	CCNB3 (S753C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370192	NM_033031.3(CCNB3):c.497T>C (p.Ile166Thr)	CCNB3 (I166T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2364127	NM_033031.3(CCNB3):c.290C>T (p.Thr97Ile)	CCNB3 (T97I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337119	NM_033031.3(CCNB3):c.3338G>C (p.Arg1113Pro)	CCNB3 (R1113P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336937	NM_033031.3(CCNB3):c.2941G>A (p.Ala981Thr)	CCNB3 (A981T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334708	NM_033031.3(CCNB3):c.1793T>C (p.Met598Thr)	CCNB3 (M598T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328498	NM_033031.3(CCNB3):c.376G>A (p.Val126Met)	CCNB3 (V126M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2318993	NM_033031.3(CCNB3):c.1527A>G (p.Ile509Met)	CCNB3 (I509M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315922	NM_033031.3(CCNB3):c.2801A>T (p.Asn934Ile)	CCNB3 (N934I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310469	NM_033031.3(CCNB3):c.1258A>G (p.Ile420Val)	CCNB3 (I420V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304299	NM_033031.3(CCNB3):c.2641T>C (p.Trp881Arg)	CCNB3 (W881R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303953	NM_033031.3(CCNB3):c.3814A>G (p.Ile1272Val)	CCNB3 (I168V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2297785	NM_033031.3(CCNB3):c.1230G>T (p.Glu410Asp)	CCNB3 (E410D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281218	NM_033031.3(CCNB3):c.3242A>G (p.Lys1081Arg)	CCNB3 (K1081R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262290	NM_033031.3(CCNB3):c.3128C>T (p.Thr1043Ile)	CCNB3 (T1043I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261927	NM_033031.3(CCNB3):c.1773G>T (p.Lys591Asn)	CCNB3 (K591N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234184	NM_033031.3(CCNB3):c.971A>G (p.Glu324Gly)	CCNB3 (E324G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225542	NM_033031.3(CCNB3):c.3338G>A (p.Arg1113Gln)	CCNB3 (R1113Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214785	NM_033031.3(CCNB3):c.3848G>A (p.Arg1283His)	CCNB3 (R179H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1676600	Single allele	NUDT10, NUDT11 +22 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1676599	Single allele	USP27X, AKAP4 +9 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 816350	GRCh37/hg19 Xp11.22(chrX:50032383-50694969)x3	DGKK, CCNB3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	not provided	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 782766	NM_033031.3(CCNB3):c.2569A>C (p.Lys857Gln)	CCNB3 (K857Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773925	NM_033031.3(CCNB3):c.3001G>C (p.Gly1001Arg)	CCNB3 (G1001R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 755151	NM_033031.3(CCNB3):c.1365G>A (p.Ser455=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734352	NM_033031.3(CCNB3):c.3903C>G (p.Ser1301=)	CCNB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727698	NM_033031.3(CCNB3):c.562T>A (p.Ser188Thr)	CCNB3 (S188T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 721550	NM_033031.3(CCNB3):c.893A>G (p.His298Arg)	CCNB3 (H298R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 711172	NM_033031.3(CCNB3):c.765T>C (p.Asn255=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709387	NM_033031.3(CCNB3):c.2106C>T (p.Ala702=)	CCNB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687087	GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	NUDT10, NUDT11 +73 more	Copy number gain	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 619178	NM_033031.3(CCNB3):c.3752T>A (p.Val1251Asp)	CCNB3 (V1251D +1 more)	Single nucleotide variant (missense variant)	Pregnancy loss, recurrent, susceptibility to, 1	GPathogenic

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