ATRX[gene] - 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 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 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 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 154251	GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	ABCB7, AR +206 more	Copy number gain	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 58644	GRCh38/hg38 Xq21.1(chrX:77448504-77783428)x2	ATRX, FGF16	Copy number gain	See cases	GPathogenic
Select item 57170	GRCh38/hg38 Xq21.1(chrX:77456321-77702484)x2	ATRX, FGF16	Copy number gain	See cases	GPathogenic
Select item 57925	GRCh38/hg38 Xq21.1(chrX:77490616-77524711)x1	ATRX	Copy number loss	See cases	GPathogenic
Select item 1199087	NM_000489.6(ATRX):c.*213C>T	ATRX	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1394040	NM_000489.6(ATRX):c.7474A>G (p.Met2492Val)	ATRX (M2454V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1395643	NM_000489.6(ATRX):c.7472del (p.Lys2490_Ser2491insTer)	ATRX	Deletion (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2034330	NM_000489.6(ATRX):c.7468A>T (p.Lys2490Ter)	ATRX (K2452* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2834151	NM_000489.6(ATRX):c.7454G>A (p.Gly2485Glu)	ATRX (G2485E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 991719	NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)	ATRX (R2442K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2832232	NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)	ATRX (M2441T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 281524	NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)	ATRX (M2479V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1169594	NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser)	ATRX (P2440S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 521610	NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)	ATRX (P2478A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2816586	NM_000489.6(ATRX):c.7431C>T (p.Pro2477=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1623753	NM_000489.6(ATRX):c.7429C>A (p.Pro2477Thr)	ATRX (P2439T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1098253	NM_000489.6(ATRX):c.7428A>T (p.Pro2476=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1581653	NM_000489.6(ATRX):c.7425A>G (p.Ala2475=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2754567	NM_000489.6(ATRX):c.7422T>C (p.Arg2474=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1636796	NM_000489.6(ATRX):c.7421G>A (p.Arg2474His)	ATRX (R2436H +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2129893	NM_000489.6(ATRX):c.7413A>G (p.Pro2471=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3365382	NM_000489.6(ATRX):c.7408C>T (p.Pro2470Ser)	ATRX (P2432S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663447	NM_000489.6(ATRX):c.7406C>T (p.Pro2469Leu)	ATRX (P2431L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165831	NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile)	ATRX (M2429I +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 1672157	NM_000489.6(ATRX):c.7400T>C (p.Met2467Thr)	ATRX (M2429T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2660954	NM_000489.6(ATRX):c.7396G>A (p.Gly2466Ser)	ATRX (G2428S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337653	NM_000489.6(ATRX):c.7396G>T (p.Gly2466Cys)	ATRX (G2428C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 93147	NM_000489.6(ATRX):c.7394del (p.Gly2465fs)	ATRX (G2427fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2571372	NM_000489.6(ATRX):c.7371_7393del (p.Gly2458fs)	ATRX (G2420fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2764401	NM_000489.6(ATRX):c.7390G>A (p.Ala2464Thr)	ATRX (A2426T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2170155	NM_000489.6(ATRX):c.7384C>A (p.Pro2462Thr)	ATRX (P2424T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 569922	NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)	ATRX (Y2460C +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3056438	NM_000489.6(ATRX):c.7377G>A (p.Met2459Ile)	ATRX (M2421I +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 2769039	NM_000489.6(ATRX):c.7373G>T (p.Gly2458Val)	ATRX (G2420V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2429647	NM_000489.6(ATRX):c.7368G>A (p.Met2456Ile)	ATRX (M2418I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092867	NM_000489.6(ATRX):c.7367T>G (p.Met2456Arg)	ATRX (M2456R +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 1802595	NM_000489.6(ATRX):c.7366dup (p.Met2456fs)	ATRX (M2418fs +1 more)	Duplication (frameshift variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GPathogenic
Select item 1477178	NM_000489.6(ATRX):c.7367T>C (p.Met2456Thr)	ATRX (M2456T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance

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