"ATRX-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 779057	NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +2 more	GBenign/Likely benign
Select item 11728	NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	ATRX (R2348* +1 more)	Single nucleotide variant (nonsense)	Alpha thalassemia-X-linked intellectual disability syndrome +9 more	GPathogenic
Select item 1166964	NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +1 more	GBenign/Likely benign
Select item 588357	NM_000489.6(ATRX):c.6489T>C (p.Tyr2163=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +2 more	GLikely benign
Select item 196162	NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 11731	NM_000489.6(ATRX):c.6392G>A (p.Arg2131Gln)	ATRX (R2093Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 2636335	NM_000489.6(ATRX):c.6349A>G (p.Thr2117Ala)	ATRX (T2079A +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 730345	NM_000489.6(ATRX):c.6024T>C (p.Asp2008=)	ATRX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1585420	NM_000489.6(ATRX):c.5787-24GTTT[3]	ATRX	Microsatellite (intron variant)	ATRX-related disorder +1 more	GLikely benign
Select item 1145993	NM_000489.6(ATRX):c.5786+7C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 3049208	NM_000489.6(ATRX):c.5671C>G (p.Leu1891Val)	ATRX (L1853V +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 589393	NM_000489.6(ATRX):c.5349A>G (p.Pro1783=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +3 more	GBenign/Likely benign
Select item 2637185	NM_000489.6(ATRX):c.5315C>A (p.Ser1772Tyr)	ATRX (S1734Y +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GLikely pathogenic
Select item 1113453	NM_000489.6(ATRX):c.5175A>G (p.Lys1725=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +1 more	GLikely benign
Select item 2633036	NM_000489.6(ATRX):c.4845C>A (p.Asp1615Glu)	ATRX (D1577E +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GLikely pathogenic
Select item 795722	NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 210497	NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])	ATRX	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93137	NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)	ATRX (E1464del +1 more)	Microsatellite (inframe_deletion)	Alpha thalassemia-X-linked intellectual disability syndrome +4 more	GBenign/Likely benign
Select item 290043	NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1140261	NM_000489.6(ATRX):c.4215-6C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 533629	NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)	ATRX (T1404A +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636419	NM_000489.6(ATRX):c.4159T>A (p.Ser1387Thr)	ATRX (S1349T +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 434463	NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 434465	NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)	ATRX (K1344R +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3043878	NM_000489.6(ATRX):c.3992C>G (p.Ser1331Cys)	ATRX (S1293C +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 393120	NM_000489.6(ATRX):c.3655G>A (p.Gly1219Arg)	ATRX (G1219R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3049230	NM_000489.6(ATRX):c.3570A>G (p.Arg1190=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder	GLikely benign
Select item 133659	NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)	ATRX (V1181L +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +4 more	GBenign/Likely benign
Select item 446887	NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)	ATRX (K1176M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128492	NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)	ATRX (I1132T +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 465052	NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)	ATRX (G1071R +1 more)	Single nucleotide variant (missense variant)	Acquired hemoglobin H disease +4 more	GConflicting classifications of pathogenicity
Select item 844484	NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)	ATRX (S1067L +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +1 more	GUncertain significance
Select item 2637110	NM_000489.6(ATRX):c.3170A>G (p.Lys1057Arg)	ATRX (K1019R +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 3061116	NM_000489.6(ATRX):c.3004G>T (p.Val1002Leu)	ATRX (V1002L +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 696966	NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)	ATRX (D937N +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +1 more	GBenign/Likely benign
Select item 465048	NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)	ATRX (R907Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1170601	NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg)	ATRX (K820R +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 133660	NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)	ATRX (F847S +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +4 more	GBenign/Likely benign
Select item 2633963	NM_000489.6(ATRX):c.2401T>A (p.Ser801Thr)	ATRX (S763T +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 1424702	NM_000489.6(ATRX):c.2293T>C (p.Tyr765His)	ATRX (Y765H +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +1 more	GUncertain significance
Select item 166714	NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)	ATRX (E723D +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +6 more	GBenign/Likely benign
Select item 2079931	NM_000489.6(ATRX):c.2124A>G (p.Ile708Met)	ATRX (I670M +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 581151	NM_000489.6(ATRX):c.1798A>G (p.Ile600Val)	ATRX (I600V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 533646	NM_000489.6(ATRX):c.1625T>C (p.Val542Ala)	ATRX (V542A +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +3 more	GBenign/Likely benign
Select item 3061427	NM_000489.6(ATRX):c.1594C>G (p.Leu532Val)	ATRX (L494V +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 1160095	NM_000489.6(ATRX):c.1561C>G (p.Pro521Ala)	ATRX (P483A +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +1 more	GLikely benign
Select item 434462	NM_000489.6(ATRX):c.1467C>T (p.Thr489=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GBenign/Likely benign
Select item 696189	NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)	ATRX (I435V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 199028	NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln)	ATRX (K425Q +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 698407	NM_000489.6(ATRX):c.1257G>A (p.Ala419=)	ATRX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 700264	NM_000489.6(ATRX):c.1245C>T (p.Ser415=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +2 more	GBenign/Likely benign
Select item 2635144	NM_000489.6(ATRX):c.1169G>T (p.Arg390Leu)	ATRX (R352L +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 589005	NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)	ATRX (R390C +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2635851	NM_000489.6(ATRX):c.1154C>T (p.Ser385Phe)	ATRX (S347F +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 465038	NM_000489.6(ATRX):c.1077G>T (p.Leu359=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +4 more	GLikely benign
Select item 697274	NM_000489.6(ATRX):c.1047C>G (p.Pro349=)	ATRX	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2628594	NM_000489.6(ATRX):c.987G>C (p.Lys329Asn)	ATRX (K291N +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 210500	NM_000489.6(ATRX):c.838T>C (p.Cys280Arg)	ATRX (C280R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 533640	NM_000489.6(ATRX):c.798C>T (p.Tyr266=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +2 more	GBenign/Likely benign
Select item 3051839	NM_000489.6(ATRX):c.766A>T (p.Ile256Leu)	ATRX (I218L +1 more)	Single nucleotide variant (missense variant)	ATRX-related disorder	GUncertain significance
Select item 3043099	NM_000489.6(ATRX):c.370+4A>G	ATRX	Single nucleotide variant (intron variant)	ATRX-related disorder	GLikely benign
Select item 1157106	NM_000489.6(ATRX):c.366A>G (p.Pro122=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +1 more	GLikely benign
Select item 680383	NM_000489.6(ATRX):c.189+7A>G	ATRX	Single nucleotide variant (intron variant)	ATRX-related disorder +2 more	GBenign/Likely benign
Select item 133644	NM_000489.6(ATRX):c.189G>A (p.Glu63=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder +2 more	GConflicting classifications of pathogenicity

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Items: 65