ClinVar for MedGen (Select 337145) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000691.	NM_000489.6(ATRX):c.2360G>C (p.Gly787Ala) GRCh37: ChrX:76938388 GRCh38: ChrX:77682896	ATRX	G749A, G787A	Acquired hemoglobin H disease, Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome, X-linked, 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 24422282.	NM_000489.6(ATRX):c.758T>C (p.Leu253Ser) GRCh37: ChrX:76939990 GRCh38: ChrX:77684498	ATRX	L215S, L253S	Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome	Likely pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 24318533.	NM_000489.6(ATRX):c.6227A>C (p.Lys2076Thr) GRCh37: ChrX:76829814 GRCh38: ChrX:77574349	ATRX	K2038T, K2076T	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 24291534.	NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter) GRCh37: ChrX:76939352 GRCh38: ChrX:77683860	ATRX	R428, R466	Alpha thalassemia-X-linked intellectual disability syndrome	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24281445.	NM_000489.6(ATRX):c.5379C>T (p.Thr1793=) GRCh37: ChrX:76874343 GRCh38: ChrX:77618875	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 24280366.	NM_000489.6(ATRX):c.2377A>G (p.Lys793Glu) GRCh37: ChrX:76938371 GRCh38: ChrX:77682879	ATRX	K755E, K793E	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 24231537.	NC_000023.10:g.(?_76937002)_(76972730_?)dup GRCh37: ChrX:76937002-76972730	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 24231528.	NC_000023.10:g.(?_76763829)_(76776414_?)del GRCh37: ChrX:76763829-76776414	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Pathogenic (Jun 20, 2022)	criteria provided, single submitter
Select item 24231519.	NC_000023.10:g.(?_76763829)_(76972740_?)dup GRCh37: ChrX:76763829-76972740	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 242315010.	NC_000023.10:g.(?_77041448)_(77041487_?)dup GRCh37: ChrX:77041448-77041487	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 242224411.	NC_000023.10:g.(?_76888675)_(77264780_?)dup GRCh37: ChrX:76888675-77264780	ATP7A, ATRX, COX7B, MAGT1, PGAM4		Alpha thalassemia-X-linked intellectual disability syndrome, X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome, Cutis laxa, X-linked	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 242115212.	NM_000489.6(ATRX):c.5C>G (p.Thr2Ser) GRCh37: ChrX:77041483 GRCh38: ChrX:77785997	ATRX	T2S	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 242041613.	NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln) GRCh37: ChrX:76938017 GRCh38: ChrX:77682525	ATRX	K873Q, K911Q	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 241968214.	NM_000489.6(ATRX):c.5921G>C (p.Gly1974Ala) GRCh37: ChrX:76854915 GRCh38: ChrX:77599446	ATRX	G1936A, G1974A	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 241921215.	NM_000489.6(ATRX):c.4244A>G (p.Asn1415Ser) GRCh37: ChrX:76909661 GRCh38: ChrX:77654171	ATRX	N1377S, N1415S	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 241886416.	NM_000489.6(ATRX):c.4122G>A (p.Val1374=) GRCh37: ChrX:76912142 GRCh38: ChrX:77656652	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 241805317.	NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys) GRCh37: ChrX:76938121 GRCh38: ChrX:77682629	ATRX	S838C, S876C	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 241783818.	NM_000489.6(ATRX):c.1917G>A (p.Leu639=) GRCh37: ChrX:76938831 GRCh38: ChrX:77683339	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 241575719.	NM_000489.6(ATRX):c.3468T>C (p.Ser1156=) GRCh37: ChrX:76937280 GRCh38: ChrX:77681788	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 241450320.	NM_000489.6(ATRX):c.1236C>G (p.Asp412Glu) GRCh37: ChrX:76939512 GRCh38: ChrX:77684020	ATRX	D374E, D412E	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 220255721.	NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu) GRCh37: ChrX:76919036 GRCh38: ChrX:77663547	ATRX	Q1281E, Q1319E	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 220193622.	NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val) GRCh37: ChrX:76937626 GRCh38: ChrX:77682134	ATRX	D1041V, D1003V	not provided, Alpha thalassemia-X-linked intellectual disability syndrome	Conflicting interpretations of pathogenicity (May 22, 2023)	criteria provided, conflicting interpretations
Select item 220187023.	NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln) GRCh37: ChrX:76937777 GRCh38: ChrX:77682285	ATRX	E953Q, E991Q	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 220011924.	NM_000489.6(ATRX):c.735A>G (p.Leu245=) GRCh37: ChrX:76940013 GRCh38: ChrX:77684521	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 219922825.	NM_000489.6(ATRX):c.3444A>C (p.Glu1148Asp) GRCh37: ChrX:76937304 GRCh38: ChrX:77681812	ATRX	E1110D, E1148D	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 219670726.	NM_000489.6(ATRX):c.5786+19C>T GRCh37: ChrX:76855182 GRCh38: ChrX:77599713	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Benign (Jul 15, 2022)	criteria provided, single submitter
Select item 219584427.	NM_000489.6(ATRX):c.4024C>T (p.Arg1342Trp) GRCh37: ChrX:76918967 GRCh38: ChrX:77663478	ATRX	R1304W, R1342W	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219539828.	NM_000489.6(ATRX):c.6849+5T>C GRCh37: ChrX:76778725 GRCh38: ChrX:77523247	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219169629.	NM_000489.6(ATRX):c.2466A>C (p.Glu822Asp) GRCh37: ChrX:76938282 GRCh38: ChrX:77682790	ATRX	E784D, E822D	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 219023630.	NM_000489.6(ATRX):c.3354A>G (p.Lys1118=) GRCh37: ChrX:76937394 GRCh38: ChrX:77681902	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 218827931.	NM_000489.6(ATRX):c.1116A>G (p.Lys372=) GRCh37: ChrX:76939632 GRCh38: ChrX:77684140	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 218827832.	NM_000489.6(ATRX):c.1164A>G (p.Lys388=) GRCh37: ChrX:76939584 GRCh38: ChrX:77684092	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Benign (Aug 13, 2022)	criteria provided, single submitter
Select item 218827733.	NM_000489.6(ATRX):c.1267G>A (p.Val423Ile) GRCh37: ChrX:76939481 GRCh38: ChrX:77683989	ATRX	V423I, V385I	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 218827634.	NM_000489.6(ATRX):c.1435C>G (p.Pro479Ala) GRCh37: ChrX:76939313 GRCh38: ChrX:77683821	ATRX	P479A, P441A	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 218827535.	NM_000489.6(ATRX):c.2400C>G (p.Ser800Arg) GRCh37: ChrX:76938348 GRCh38: ChrX:77682856	ATRX	S800R, S762R	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 218827336.	NM_000489.6(ATRX):c.3369C>T (p.Asn1123=) GRCh37: ChrX:76937379 GRCh38: ChrX:77681887	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 218715137.	NM_000489.6(ATRX):c.663-18dup GRCh37: ChrX:76940102-76940103 GRCh38: ChrX:77684610-77684611	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 218559538.	NM_000489.6(ATRX):c.4558-13C>T GRCh37: ChrX:76891560 GRCh38: ChrX:77636069	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 218325139.	NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile) GRCh37: ChrX:76937311 GRCh38: ChrX:77681819	ATRX	T1146I, T1108I	Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218257340.	NM_000489.6(ATRX):c.1693A>G (p.Ile565Val) GRCh37: ChrX:76939055 GRCh38: ChrX:77683563	ATRX	I565V, I527V	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 217921041.	NM_000489.6(ATRX):c.5566+11C>T GRCh37: ChrX:76872070 GRCh38: ChrX:77616602	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 217838142.	NM_000489.6(ATRX):c.7201-9T>C GRCh37: ChrX:76764116 GRCh38: ChrX:77508638	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 217633343.	NM_000489.6(ATRX):c.98G>A (p.Ser33Asn) GRCh37: ChrX:76972643 GRCh38: ChrX:77717166	ATRX	S33N	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 217553344.	NM_000489.6(ATRX):c.5272+11A>G GRCh37: ChrX:76875852 GRCh38: ChrX:77620384	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 217380145.	NM_000489.6(ATRX):c.5956+18T>C GRCh37: ChrX:76854862 GRCh38: ChrX:77599393	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 217370546.	NM_000489.6(ATRX):c.1233A>T (p.Glu411Asp) GRCh37: ChrX:76939515 GRCh38: ChrX:77684023	ATRX	E373D, E411D	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 217218747.	NM_000489.6(ATRX):c.1469G>T (p.Gly490Val) GRCh37: ChrX:76939279 GRCh38: ChrX:77683787	ATRX	G490V, G452V	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 217114248.	NM_000489.6(ATRX):c.2536G>C (p.Asp846His) GRCh37: ChrX:76938212 GRCh38: ChrX:77682720	ATRX	D808H, D846H	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 217015549.	NM_000489.6(ATRX):c.7384C>A (p.Pro2462Thr) GRCh37: ChrX:76763924 GRCh38: ChrX:77508446	ATRX	P2424T, P2462T	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 216952750.	NM_000489.6(ATRX):c.1555T>G (p.Ser519Ala) GRCh37: ChrX:76939193 GRCh38: ChrX:77683701	ATRX	S519A, S481A	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 216931951.	NM_000489.6(ATRX):c.3267A>G (p.Arg1089=) GRCh37: ChrX:76937481 GRCh38: ChrX:77681989	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 216841152.	NM_000489.6(ATRX):c.1643G>A (p.Gly548Asp) GRCh37: ChrX:76939105 GRCh38: ChrX:77683613	ATRX	G548D, G510D	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 216788653.	NM_000489.6(ATRX):c.6408C>T (p.Asp2136=) GRCh37: ChrX:76814236 GRCh38: ChrX:77558765	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 216744454.	NM_000489.6(ATRX):c.3028G>A (p.Glu1010Lys) GRCh37: ChrX:76937720 GRCh38: ChrX:77682228	ATRX	E972K, E1010K	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Feb 7, 2022)	criteria provided, single submitter
Select item 216685055.	NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu) GRCh37: ChrX:76937552 GRCh38: ChrX:77682060	ATRX	K1066E, K1028E	Intellectual disability-hypotonic facies syndrome, X-linked, 1, Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 216657656.	NM_000489.6(ATRX):c.2082A>T (p.Pro694=) GRCh37: ChrX:76938666 GRCh38: ChrX:77683174	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 216576757.	NM_000489.6(ATRX):c.2019A>G (p.Val673=) GRCh37: ChrX:76938729 GRCh38: ChrX:77683237	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216438358.	NM_000489.6(ATRX):c.595-17del GRCh37: ChrX:76940515 GRCh38: ChrX:77685023	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jan 8, 2022)	criteria provided, single submitter
Select item 216369459.	NM_000489.6(ATRX):c.2416A>C (p.Lys806Gln) GRCh37: ChrX:76938332 GRCh38: ChrX:77682840	ATRX	K768Q, K806Q	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 216286660.	NM_000489.6(ATRX):c.951A>G (p.Pro317=) GRCh37: ChrX:76939797 GRCh38: ChrX:77684305	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 216227361.	NM_000489.6(ATRX):c.1078A>G (p.Ile360Val) GRCh37: ChrX:76939670 GRCh38: ChrX:77684178	ATRX	I360V, I322V	Alpha thalassemia-X-linked intellectual disability syndrome	Benign (May 16, 2022)	criteria provided, single submitter
Select item 216107662.	NM_000489.6(ATRX):c.6975+7T>C GRCh37: ChrX:76777734 GRCh38: ChrX:77522256	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 215867863.	NM_000489.6(ATRX):c.6935A>G (p.Asn2312Ser) GRCh37: ChrX:76777781 GRCh38: ChrX:77522303	ATRX	N2312S, N2274S	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 215797664.	NM_000489.6(ATRX):c.1080T>C (p.Ile360=) GRCh37: ChrX:76939668 GRCh38: ChrX:77684176	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 215546865.	NM_000489.6(ATRX):c.6110+12A>G GRCh37: ChrX:76849154 GRCh38: ChrX:77593684	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Benign (Aug 19, 2022)	criteria provided, single submitter
Select item 215363266.	NM_000489.6(ATRX):c.2812A>G (p.Lys938Glu) GRCh37: ChrX:76937936 GRCh38: ChrX:77682444	ATRX	K938E, K900E	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215329267.	NM_000489.6(ATRX):c.4156G>A (p.Glu1386Lys) GRCh37: ChrX:76912108 GRCh38: ChrX:77656618	ATRX	E1386K, E1348K	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 215266868.	NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr) GRCh37: ChrX:76937539 GRCh38: ChrX:77682047	ATRX	K1032T, K1070T	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 215218769.	NM_000489.6(ATRX):c.924A>T (p.Val308=) GRCh37: ChrX:76939824 GRCh38: ChrX:77684332	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 215135170.	NM_000489.6(ATRX):c.370+11T>A GRCh37: ChrX:76952054 GRCh38: ChrX:77696566	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 214792671.	NM_000489.6(ATRX):c.5957-10T>C GRCh37: ChrX:76849329 GRCh38: ChrX:77593859	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 214791872.	NM_000489.6(ATRX):c.2249C>T (p.Ser750Leu) GRCh37: ChrX:76938499 GRCh38: ChrX:77683007	ATRX	S712L, S750L	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 214759773.	NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe) GRCh37: ChrX:76918956 GRCh38: ChrX:77663467	ATRX	L1307F, L1345F	not provided, Alpha thalassemia-X-linked intellectual disability syndrome	Conflicting interpretations of pathogenicity (Jan 18, 2023)	criteria provided, conflicting interpretations
Select item 214544574.	NM_000489.6(ATRX):c.1598A>T (p.Glu533Val) GRCh37: ChrX:76939150 GRCh38: ChrX:77683658	ATRX	E533V, E495V	Alpha thalassemia-X-linked intellectual disability syndrome, not provided	Uncertain significance (Mar 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214524275.	NM_000489.6(ATRX):c.4611G>A (p.Leu1537=) GRCh37: ChrX:76891494 GRCh38: ChrX:77636003	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 214415276.	NM_000489.6(ATRX):c.20+15C>A GRCh37: ChrX:77041453 GRCh38: ChrX:77785967	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 214287277.	NM_000489.6(ATRX):c.3086C>T (p.Pro1029Leu) GRCh37: ChrX:76937662 GRCh38: ChrX:77682170	ATRX	P1029L, P991L	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 214256178.	NM_000489.6(ATRX):c.134-17T>C GRCh37: ChrX:76954134 GRCh38: ChrX:77698646	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 214074879.	NM_000489.6(ATRX):c.2519G>T (p.Arg840Ile) GRCh37: ChrX:76938229 GRCh38: ChrX:77682737	ATRX	R840I, R802I	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 213934880.	NM_000489.6(ATRX):c.3364T>A (p.Cys1122Ser) GRCh37: ChrX:76937384 GRCh38: ChrX:77681892	ATRX	C1084S, C1122S	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213888281.	NM_000489.6(ATRX):c.2206G>A (p.Ala736Thr) GRCh37: ChrX:76938542 GRCh38: ChrX:77683050	ATRX	A698T, A736T	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 213861482.	NM_000489.6(ATRX):c.658T>C (p.Cys220Arg) GRCh37: ChrX:76940435 GRCh38: ChrX:77684943	ATRX	C220R, C182R	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 213861383.	NM_000489.6(ATRX):c.6508A>G (p.Thr2170Ala) GRCh37: ChrX:76813113 GRCh38: ChrX:77557642	ATRX	T2132A, T2170A	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 213828684.	NM_000489.6(ATRX):c.6849+13A>G GRCh37: ChrX:76778717 GRCh38: ChrX:77523239	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 213567885.	NM_000489.6(ATRX):c.4386G>T (p.Glu1462Asp) GRCh37: ChrX:76907775 GRCh38: ChrX:77652285	ATRX	E1424D, E1462D	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213478986.	NM_000489.6(ATRX):c.2928A>G (p.Glu976=) GRCh37: ChrX:76937820 GRCh38: ChrX:77682328	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 213447087.	NM_000489.6(ATRX):c.4226A>G (p.Lys1409Arg) GRCh37: ChrX:76909679 GRCh38: ChrX:77654189	ATRX	K1371R, K1409R	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 213388588.	NM_000489.6(ATRX):c.2575G>C (p.Gly859Arg) GRCh37: ChrX:76938173 GRCh38: ChrX:77682681	ATRX	G859R, G821R	Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213267889.	NM_000489.6(ATRX):c.6853C>T (p.Leu2285=) GRCh37: ChrX:76777863 GRCh38: ChrX:77522385	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213259690.	NM_000489.6(ATRX):c.6399T>C (p.Ile2133=) GRCh37: ChrX:76814245 GRCh38: ChrX:77558774	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 213180991.	NM_000489.6(ATRX):c.4214+14T>G GRCh37: ChrX:76912036 GRCh38: ChrX:77656546	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 213008792.	NM_000489.6(ATRX):c.2910G>A (p.Lys970=) GRCh37: ChrX:76937838 GRCh38: ChrX:77682346	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 212989393.	NM_000489.6(ATRX):c.7413A>G (p.Pro2471=) GRCh37: ChrX:76763895 GRCh38: ChrX:77508417	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 212969894.	NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu) GRCh37: ChrX:76812962 GRCh38: ChrX:77557491	ATRX	S2182L, S2220L	Alpha thalassemia-X-linked intellectual disability syndrome	Benign (Apr 23, 2022)	criteria provided, single submitter
Select item 212825095.	NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe) GRCh37: ChrX:76829800 GRCh38: ChrX:77574335	ATRX	I2043F, I2081F	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 212558596.	NM_000489.6(ATRX):c.60C>T (p.Asp20=) GRCh37: ChrX:76972681 GRCh38: ChrX:77717204	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 212552997.	NM_000489.6(ATRX):c.6976-4C>A GRCh37: ChrX:76776980 GRCh38: ChrX:77521502	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 212541398.	NM_000489.6(ATRX):c.1734T>C (p.Thr578=) GRCh37: ChrX:76939014 GRCh38: ChrX:77683522	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212477699.	NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly) GRCh37: ChrX:76937776 GRCh38: ChrX:77682284	ATRX	E991G, E953G	Alpha thalassemia-X-linked intellectual disability syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 2124592100.	NM_000489.6(ATRX):c.5895T>C (p.Gly1965=) GRCh37: ChrX:76854941 GRCh38: ChrX:77599472	ATRX		Alpha thalassemia-X-linked intellectual disability syndrome	Likely benign (Aug 13, 2022)	criteria provided, single submitter

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