8242[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	VAMP7, VBP1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068116, LOC130068117 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	NAA10, NALF2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	ABCB7, ACE2 +1398 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068159, LOC130068160 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC111365170, LOC111365174 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC110120679, LOC110120680 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	ITGB1BP2, ITIH6 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	LOC130068002, LOC130068003 +1069 more	Copy number loss	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	GK, GK-AS1 +1475 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	ABCB7, ACE2 +1628 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	LOC130068016, LOC130068017 +1163 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068277, LOC130068278 +2632 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	ABCB7, ACE2 +1932 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	GAGE12H, GAGE12I +1163 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC126863344, LOC126863345 +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 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC130068156, LOC130068157 +2632 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC125467792, LOC125467793 +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	ABCB7, ABCD1 +2628 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	VCX3B, VEGFD +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	CENPVL1, CENPVL2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	CT47A6, CT47A7 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	LOC116309160, LOC116309161 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	ABCB7, ABCD1 +2631 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	LOC121627957, LOC121627958 +1154 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	CTPS2, CUL4B +2631 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC130068611, LOC130068612 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	LOC130068404, LOC130068405 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	GPR101, GPR119 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	LOC130068209, LOC130068210 +1130 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	ABCB7, ACE2 +1798 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC109396974, LOC109504725 +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 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	WDR13, WDR44 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LINC00629, LINC00630 +2632 more	Copy number gain	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	LOC107652445, LOC107985657 +1163 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	MIR1321, MIR1468 +1493 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	TSR2, TXLNG +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	DMRTC1, DMRTC1B +2603 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	DLG3, DLG3-AS1 +2593 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	ACE2, ACE2-DT +1130 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC116309156, LOC116309157 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130068344, LOC130068345 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC129391311, LOC129391312 +2585 more	Copy number gain	See cases	GPathogenic
Select item 145979	GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	LOC130068092, LOC130068093 +960 more	Copy number loss	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	SYTL4, SYTL5 +2046 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 153068	GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	AKAP4, ARAF +328 more	Copy number gain	See cases	GPathogenic
Select item 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	See cases	GPathogenic
Select item 153506	GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2	AKAP4, BMP15 +157 more	Copy number gain	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	LOC130068430, LOC130068431 +640 more	Copy number loss	See cases	GPathogenic
Select item 57921	GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1	AKAP4, BMP15 +88 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068386, LOC130068387 +824 more	Copy number loss	See cases	GPathogenic
Select item 58616	GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2	BMP15, CENPVL1 +77 more	Copy number gain	See cases	GPathogenic
Select item 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 58617	GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3	ALAS2, APEX2 +162 more	Copy number gain	See cases	GPathogenic
Select item 155698	GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0	KDM5C, LOC113875033 +48 more	Copy number loss	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	LOC130068353, LOC130068354 +169 more	Copy number gain	See cases	GPathogenic
Select item 149318	GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3	FAM156A, GPR173 +29 more	Copy number gain	See cases	GUncertain significance
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 2660584	NM_004187.4(KDM5C):c.*1360A>G	KDM5C (N1442D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1181456	NM_004187.5(KDM5C):c.*491C>T	KDM5C	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1219148	NM_004187.5(KDM5C):c.*380G>A	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1207328	NM_004187.5(KDM5C):c.*361C>A	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 444806	NM_004187.5(KDM5C):c.*198C>A	KDM5C (A1372D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3049335	NM_004187.5(KDM5C):c.*133T>A	KDM5C	Single nucleotide variant (synonymous variant +2 more)	KDM5C-related disorder	GLikely benign
Select item 134590	NM_004187.5(KDM5C):c.*132C>G	KDM5C (P1350R)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 2579094	NM_004187.5(KDM5C):c.*130C>A	KDM5C	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 810608	NM_004187.5(KDM5C):c.*130C>G	KDM5C (I1349M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 638505	NM_004187.5(KDM5C):c.*129C>T	KDM5C	Single nucleotide variant (3 prime UTR variant +2 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2283519	NM_004187.5(KDM5C):c.*124G>C	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1254243	NM_004187.5(KDM5C):c.*124G>A	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1183224	NM_004187.5(KDM5C):c.93_108del	KDM5C	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1236561	NM_004187.5(KDM5C):c.*105dup	KDM5C	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1296681	NM_004187.5(KDM5C):c.*99A>G	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260604	NM_004187.5(KDM5C):c.*98T>G	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1215665	NM_004187.5(KDM5C):c.*94C>G	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1217458	NM_004187.5(KDM5C):c.*86G>A	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1258823	NM_004187.5(KDM5C):c.*43G>A	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1305999	NM_004187.5(KDM5C):c.4675C>G (p.Gln1559Glu)	KDM5C (Q1556E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1211975	NM_004187.5(KDM5C):c.4675C>A (p.Gln1559Lys)	KDM5C (Q1556K +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 94881	NM_004187.5(KDM5C):c.4674A>G (p.Gln1558=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1579968	NM_004187.5(KDM5C):c.4665G>A (p.Pro1555=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia +1 more	GLikely benign
Select item 1742163	NM_004187.5(KDM5C):c.4649C>T (p.Pro1550Leu)	KDM5C (P1550L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2974987	NM_004187.5(KDM5C):c.4648C>T (p.Pro1550Ser)	KDM5C (P1547S +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 94879	NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln)	KDM5C (R1546Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2243501	NM_004187.5(KDM5C):c.4633C>T (p.Pro1545Ser)	KDM5C (P1542S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1214460	NM_004187.5(KDM5C):c.4631C>T (p.Thr1544Ile)	KDM5C (T1541I +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1124869	NM_004187.5(KDM5C):c.4629G>A (p.Leu1543=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

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