CD99[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145978	GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1	AKAP17A, ARSD +80 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148177	GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1	MIR4767, MIR4770 +282 more	Copy number loss	See cases	GPathogenic
Select item 148082	GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	GPM6B, GPR143 +919 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	IL1RAPL1, IL2RG +1398 more	Copy number gain	See cases	GPathogenic
Select item 148018	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	LOC130068090, LOC130068091 +1013 more	Copy number loss	See cases	GPathogenic
Select item 147711	GRCh38/hg38 Xp22.33(chrX:10679-2777359)x1	AKAP17A, ASMT +32 more	Copy number loss	See cases	GPathogenic
Select item 146466	GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1	AKAP17A, ARSD +110 more	Copy number loss	See cases	GPathogenic
Select item 146330	GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0	AKAP17A, ARSD +57 more	Copy number loss	See cases	GPathogenic
Select item 146239	GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	LOC116309138, LOC116309139 +530 more	Copy number loss	See cases	GPathogenic
Select item 145623	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	MIR362, MIR3690 +1024 more	Copy number gain	See cases	GPathogenic
Select item 144706	GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1	AKAP17A, ANOS1 +122 more	Copy number loss	See cases	GPathogenic
Select item 144263	GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	LOC130067937, LOC130067936 +983 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59181	GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	ACE2, ACE2-DT +818 more	Copy number loss	See cases	GPathogenic
Select item 59169	GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1	AKAP17A, ARSD +78 more	Copy number loss	See cases	GPathogenic
Select item 59168	GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1	AKAP17A, AMELX +169 more	Copy number loss	See cases	GPathogenic
Select item 59167	GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0	AKAP17A, ARSD +96 more	Copy number loss	See cases	GPathogenic
Select item 57347	GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1	AKAP17A, ANOS1 +157 more	Copy number loss	See cases	GPathogenic
Select item 57339	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	LOC130068111, LOC130068112 +1022 more	Copy number loss	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155281	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	RPGR, RPS6KA3 +1041 more	Copy number loss	See cases	GPathogenic
Select item 155003	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1	AKAP17A, ARSD +109 more	Copy number loss	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	LOC130068171, LOC130068172 +1069 more	Copy number loss	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	LOC130068270, LOC130068271 +1163 more	Copy number loss	See cases	GPathogenic
Select item 148957	GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	ACE2, ACE2-DT +536 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 148818	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0	LOC130067890, LOC130067891 +112 more	Copy number loss	See cases	GPathogenic
Select item 148817	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1	AKAP17A, ARSD +106 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	NBDY, NDP +1163 more	Copy number loss	See cases	GPathogenic
Select item 148356	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	ACE2, ACE2-DT +1008 more	Copy number loss	See cases	GPathogenic
Select item 148339	GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	LOC130068093, LOC130068094 +909 more	Copy number loss	See cases	GPathogenic
Select item 147316	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1	AKAP17A, ARSD +110 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 146854	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3	AKAP17A, ARSD +106 more	Copy number gain	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	PDHA1, PDK3 +1163 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 144335	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	LOC116309152, LOC116309153 +1024 more	Copy number loss	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	TIMM8A, TIMP1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 147731	GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0	AKAP17A, ANOS1 +122 more	Copy number loss	See cases	GPathogenic
Select item 59183	GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1	AKAP17A, ANOS1 +145 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 59187	GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1	AKAP17A, ARSD +111 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	USP27X-DT, USP51 +1154 more	Copy number loss	See cases	GPathogenic
Select item 58554	GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3	AKAP17A, ARSD +56 more	Copy number gain	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58557	GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3	AKAP17A, ARSD +67 more	Copy number gain	See cases	GPathogenic
Select item 145973	GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	LOC130068050, LOC130068051 +533 more	Copy number loss	See cases	GPathogenic
Select item 155429	GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	LOC107985657, LOC108251802 +529 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	PAGE2, PAGE2B +1130 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 153789	GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1	ACE2, ACE2-DT +301 more	Copy number loss	See cases	GPathogenic
Select item 153601	GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1	AKAP17A, ANOS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 153302	GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	LOC130068116, LOC130068117 +986 more	Copy number loss	See cases	GPathogenic
Select item 153179	GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1	AKAP17A, ARSD +80 more	Copy number loss	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	See cases	GPathogenic
Select item 153753	GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	LOC125467747, LOC125467748 +999 more	Copy number loss	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 149707	GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1	AKAP17A, AMELX +184 more	Copy number loss	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PRAF2, PRDX4 +1163 more	Copy number loss	See cases	GPathogenic
Select item 59189	GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1	ACE2, ACE2-DT +402 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC129391306, LOC129391307 +1493 more	Copy number loss	See cases	GPathogenic
Select item 58559	GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	LOC130067912, LOC130067913 +708 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 146003	GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0	AKAP17A, ARSD +87 more	Copy number loss	See cases	GPathogenic
Select item 155630	GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0	AKAP17A, ANOS1 +101 more	Copy number loss	See cases	GPathogenic
Select item 150040	GRCh38/hg38 Xp22.33(chrX:1718254-3700497)x0	ARSD, ARSD-AS1 +23 more	Copy number loss	See cases	GPathogenic
Select item 154221	GRCh38/hg38 Xp22.33(chrX:1790118-2761052)x3	CD99, DHRSX +4 more	Copy number gain	See cases	GLikely benign
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 149199	GRCh38/hg38 Xp22.33(chrX:2308642-2854046)x3	CD99, DHRSX +6 more	Copy number gain	See cases	GUncertain significance
Select item 221773	GRCh38/hg38 Xp22.33(chrX:2673846-2884527)x1	GYG2, LOC126863189 +2 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 634582	NM_002414.5(CD99):c.539G>C (p.Arg180Pro)	CD99 (R180P +3 more)	Single nucleotide variant (missense variant +1 more)	CD99 Positive Neoplastic Cells Present	GUncertain significance
Select item 488031	Single allele	LOC106128902, LOC106144556 +160 more	Duplication	Autism	GLikely pathogenic
Select item 146332	GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0	AKAP17A, AMELY +88 more	Copy number loss	See cases	GPathogenic
Select item 148481	GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0	LOC126057105, LOC126057106 +101 more	Copy number loss	See cases	GPathogenic

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