ClinVar for PubMed (Select 18409179) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244530	NC_000023.10:g.(?_76907608)_(76974315_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 3244486	NC_000023.10:g.(?_76907584)_(76912163_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 3244475	NC_000023.10:g.(?_76972588)_(77302067_?)del	ATP7A, ATRX +3 more	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GPathogenic
Select item 3244463	NC_000023.10:g.(?_77041448)_(77041487_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2837860	NM_000489.6(ATRX):c.485-2A>T	ATRX	Single nucleotide variant (splice acceptor variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 2815826	NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)	ATRX (K1030fs +1 more)	Deletion (frameshift variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2810534	NM_000489.6(ATRX):c.2431del (p.Gln811fs)	ATRX (Q773fs +1 more)	Deletion (frameshift variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2802114	NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)	ATRX (R2111* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2753962	NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)	ATRX (L866* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2723123	NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)	ATRX (R380* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2699967	NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)	ATRX (R1022* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2699273	NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)	ATRX (E685fs +1 more)	Microsatellite (frameshift variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 2628370	NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)	ATRX (H1571Y +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 2423153	NC_000023.10:g.(?_76937002)_(76972730_?)dup	ATRX	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 2024014	NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)	ATRX	Microsatellite (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1749972	NM_000489.6(ATRX):c.583_585del (p.Leu195del)	ATRX (L195del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1525935	NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)	ATRX (I2210T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 1498207	NC_000023.10:g.(?_76953051)_(76954137_?)dup	ATRX	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 1452479	NC_000023.10:g.(?_76763809)_(77041507_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1441584	NM_000489.6(ATRX):c.2678dup (p.Thr894fs)	ATRX (T856fs +1 more)	Duplication (frameshift variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1334885	NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)	ATRX (R2041* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1073930	NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter)	ATRX (R616* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1072395	NC_000023.10:g.(?_76937002)_(76940508_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1072394	NC_000023.10:g.(?_76759356)_(77042755_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1072204	NM_000489.6(ATRX):c.158del (p.Asn53fs)	ATRX (N53fs)	Deletion (frameshift variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 1067789	NM_000489.6(ATRX):c.485-1G>A	ATRX	Single nucleotide variant (splice acceptor variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 961507	NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter)	ATRX (K1319* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 847375	NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer)	ATRX	Deletion (frameshift variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 838105	NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)	ATRX (S576* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 652477	NM_000489.6(ATRX):c.737G>T (p.Arg246Leu)	ATRX (R208L +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 640984	NC_000023.10:g.(?_76944291)_(76972740_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 521442	NM_000489.6(ATRX):c.6003G>A (p.Trp2001Ter)	ATRX (W2001* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 520958	NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)	ATRX (E1757D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 93141	NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)	ATRX (N179S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 11742	NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	ATRX (R37*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic

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Items: 35