C1845055[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided +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 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 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 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 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 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
Select item 1562771	NM_000489.6(ATRX):c.7356G>A (p.Gln2452=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1557510	NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys)	ATRX (N2412K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 1127595	NM_000489.6(ATRX):c.7350C>T (p.Asn2450=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1637725	NM_000489.6(ATRX):c.7347T>G (p.Ser2449=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2107208	NM_000489.6(ATRX):c.7344T>G (p.Pro2448=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1722012	NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)	ATRX (M2408L +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2853635	NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 1616493	NM_000489.6(ATRX):c.7332G>A (p.Leu2444=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1136090	NM_000489.6(ATRX):c.7320G>A (p.Lys2440=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1548708	NM_000489.6(ATRX):c.7297C>T (p.Leu2433=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1540831	NM_000489.6(ATRX):c.7284T>C (p.Tyr2428=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1037060	NM_000489.6(ATRX):c.7278G>A (p.Met2426Ile)	ATRX (M2388I +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 1595192	NM_000489.6(ATRX):c.7266A>G (p.Gln2422=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1446565	NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del)	ATRX (Q2425del +1 more)	Microsatellite (inframe_deletion)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 699664	NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)	ATRX (N2419S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 779057	NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related condition +2 more	GBenign/Likely benign
Select item 2954769	NM_000489.6(ATRX):c.7248G>A (p.Gln2416=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1133309	NM_000489.6(ATRX):c.7242C>T (p.Leu2414=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1165043	NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr)	ATRX (M2372T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2703618	NM_000489.6(ATRX):c.7218G>A (p.Gln2406=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1128848	NM_000489.6(ATRX):c.7201-4A>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 499933	NM_000489.6(ATRX):c.7201-4A>G	ATRX	Single nucleotide variant (intron variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1124839	NM_000489.6(ATRX):c.7201-14dup	ATRX	Duplication (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1086646	NM_000489.6(ATRX):c.7201-8C>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2178381	NM_000489.6(ATRX):c.7201-9T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1532446	NM_000489.6(ATRX):c.7200+19_7200+22del	ATRX	Deletion (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1645904	NM_000489.6(ATRX):c.7200+15G>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2895666	NM_000489.6(ATRX):c.7200+14C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1535789	NM_000489.6(ATRX):c.7200+10C>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 593944	NM_000489.6(ATRX):c.7200+9del	ATRX	Deletion (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2729897	NM_000489.6(ATRX):c.7191A>G (p.Lys2397=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2723015	NM_000489.6(ATRX):c.7188A>G (p.Thr2396=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1085445	NM_000489.6(ATRX):c.7183T>C (p.Leu2395=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2877261	NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)	ATRX (N2354S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 941431	NM_000489.6(ATRX):c.7168A>G (p.Ile2390Val)	ATRX (I2352V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2898158	NM_000489.6(ATRX):c.7166C>T (p.Ala2389Val)	ATRX (A2351V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 434459	NM_000489.6(ATRX):c.7158A>G (p.Arg2386=)	ATRX	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 11728	NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	ATRX (R2348* +1 more)	Single nucleotide variant (nonsense)	Microcephaly +9 more	GPathogenic
Select item 1610048	NM_000489.6(ATRX):c.7143G>A (p.Glu2381=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 954615	NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter)	ATRX (E2343* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2066317	NM_000489.6(ATRX):c.7139A>T (p.Gln2380Leu)	ATRX (Q2380L +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2875659	NM_000489.6(ATRX):c.7119A>G (p.Ala2373=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 446889	NM_000489.6(ATRX):c.7113G>A (p.Ala2371=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 1168724	NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr)	ATRX (A2333T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 533638	NM_000489.6(ATRX):c.7083C>T (p.Asn2361=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1166775	NM_000489.6(ATRX):c.7072-3T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2824649	NM_000489.6(ATRX):c.7072-4T>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2029777	NM_000489.6(ATRX):c.7072-7C>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 388474	NM_000489.6(ATRX):c.7072-8T>C	ATRX	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2030650	NM_000489.6(ATRX):c.7072-9T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2808008	NM_000489.6(ATRX):c.7071+19G>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2698430	NM_000489.6(ATRX):c.7071+16A>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1962385	NM_000489.6(ATRX):c.7071+16A>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2801476	NM_000489.6(ATRX):c.7071+12G>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2849965	NM_000489.6(ATRX):c.7071+10T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1161333	NM_000489.6(ATRX):c.7071+9A>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1556346	NM_000489.6(ATRX):c.7071+7T>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1139063	NM_000489.6(ATRX):c.7066G>T (p.Ala2356Ser)	ATRX (A2318S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 759127	NM_000489.6(ATRX):c.7044A>G (p.Gln2348=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1155414	NM_000489.6(ATRX):c.7036A>C (p.Arg2346=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1566284	NM_000489.6(ATRX):c.7029A>G (p.Thr2343=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 2049710	NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)	ATRX (V2304M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1528374	NM_000489.6(ATRX):c.7023T>C (p.Ser2341=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2784088	NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 1592777	NM_000489.6(ATRX):c.7011A>G (p.Glu2337=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2822652	NM_000489.6(ATRX):c.6983_6985del (p.Ile2328del)	ATRX (I2290del +1 more)	Deletion (inframe_deletion)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 580083	NM_000489.6(ATRX):c.6978C>A (p.Asp2326Glu)	ATRX (D2326E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2125529	NM_000489.6(ATRX):c.6976-4C>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1124480	NM_000489.6(ATRX):c.6976-7C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1590047	NM_000489.6(ATRX):c.6976-9T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2885546	NM_000489.6(ATRX):c.6976-12G>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2905947	NM_000489.6(ATRX):c.6976-14T>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2730853	NM_000489.6(ATRX):c.6975+17A>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2960266	NM_000489.6(ATRX):c.6975+14T>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 1604001	NM_000489.6(ATRX):c.6975+14T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2918700	NM_000489.6(ATRX):c.6975+12A>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign

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