10435[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 57923	GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	ABCB7, ABCD1 +1476 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	ABCB7, ABCD1 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068612, LOC130068613 +1467 more	Copy number gain	See cases	GPathogenic
Select item 144543	GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	LOC126863288, LOC126863289 +1466 more	Copy number gain	See cases	GPathogenic
Select item 57924	GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	LOC130068438, LOC130068439 +1464 more	Copy number loss	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	ABCB7, ABCD1 +1254 more	Copy number loss	See cases	GPathogenic
Select item 155357	GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	ABCB7, ABCD1 +1249 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	LOC130068496, LOC130068497 +1244 more	Copy number loss	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	MCTS1, MECP2 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	ABCD1, ACSL4 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	LOC126863325, LOC126863326 +1225 more	Copy number loss	See cases	GPathogenic
Select item 154252	GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	LOC130068537, LOC130068538 +1206 more	Copy number loss	See cases	GPathogenic
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 146845	GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	LAMP2, LDOC1 +1197 more	Copy number loss	See cases	GPathogenic
Select item 57134	GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1	APOOL, BRWD3 +40 more	Copy number loss	See cases	GPathogenic
Select item 149834	GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	ABCD1, ACSL4 +1193 more	Copy number loss	See cases	GPathogenic
Select item 57928	GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1	APOOL, BRWD3 +29 more	Copy number loss	See cases	GPathogenic
Select item 150837	GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0	APOOL, HDX +38 more	Copy number loss	See cases	GPathogenic
Select item 154304	GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1	NXF5, PABPC5 +241 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 57931	GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1	APOOL, CHM +21 more	Copy number loss	See cases	GPathogenic
Select item 57965	GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1	APOOL, CHM +21 more	Copy number loss	See cases	GPathogenic
Select item 57967	GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0	APOOL, CHM +21 more	Copy number loss	See cases	GPathogenic
Select item 146002	GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1	APOOL, CHM +19 more	Copy number loss	See cases	GPathogenic
Select item 153436	GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	LOC130068661, LOC130068662 +1181 more	Copy number loss	See cases	GPathogenic
Select item 150562	GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	ABCD1, ACSL4 +1180 more	Copy number loss	See cases	GPathogenic
Select item 2660996	NM_014496.5(RPS6KA6):c.2119A>G (p.Met707Val)	RPS6KA6 (M707V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1288726	NM_014496.5(RPS6KA6):c.2074G>A (p.Asp692Asn)	RPS6KA6 (D692N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2390933	NM_014496.5(RPS6KA6):c.2049A>G (p.Ile683Met)	RPS6KA6 (I683M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352195	NM_014496.5(RPS6KA6):c.1985A>G (p.His662Arg)	RPS6KA6 (H662R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156244	NM_014496.5(RPS6KA6):c.1926C>A (p.Phe642Leu)	RPS6KA6 (F642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335534	NM_014496.5(RPS6KA6):c.1843A>G (p.Met615Val)	RPS6KA6 (M615V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521193	NM_014496.5(RPS6KA6):c.1569A>G (p.Ile523Met)	RPS6KA6 (I523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520850	NM_014496.5(RPS6KA6):c.1552C>T (p.Arg518Trp)	RPS6KA6 (R518W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156243	NM_014496.5(RPS6KA6):c.1503A>C (p.Lys501Asn)	RPS6KA6 (K501N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156242	NM_014496.5(RPS6KA6):c.1402A>G (p.Ile468Val)	RPS6KA6 (I468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156241	NM_014496.5(RPS6KA6):c.1376A>G (p.Lys459Arg)	RPS6KA6 (K459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156237	NM_014496.5(RPS6KA6):c.1234A>G (p.Ile412Val)	RPS6KA6 (I412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303770	NM_014496.5(RPS6KA6):c.1205C>T (p.Thr402Ile)	RPS6KA6 (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259107	NM_014496.5(RPS6KA6):c.1189G>A (p.Glu397Lys)	RPS6KA6 (E397K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488872	NM_014496.5(RPS6KA6):c.743G>A (p.Arg248Lys)	RPS6KA6 (R248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681525	NM_014496.5(RPS6KA6):c.721G>A (p.Ala241Thr)	RPS6KA6 (A241T)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3156245	NM_014496.5(RPS6KA6):c.538G>T (p.Ala180Ser)	RPS6KA6 (A180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723331	NM_014496.5(RPS6KA6):c.537C>T (p.Leu179=)	RPS6KA6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2480785	NM_014496.5(RPS6KA6):c.510T>G (p.Phe170Leu)	RPS6KA6 (F170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660997	NM_014496.5(RPS6KA6):c.261T>G (p.Val87=)	RPS6KA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3315326	NM_014496.5(RPS6KA6):c.211G>A (p.Ala71Thr)	RPS6KA6 (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315327	NM_014496.5(RPS6KA6):c.125A>T (p.Glu42Val)	RPS6KA6 (E42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156236	NM_014496.5(RPS6KA6):c.122G>A (p.Gly41Glu)	RPS6KA6 (G41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156246	NM_014496.5(RPS6KA6):c.88G>C (p.Gly30Arg)	RPS6KA6 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549754	NM_014496.5(RPS6KA6):c.13G>A (p.Ala5Thr)	RPS6KA6 (A5T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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