"Ambry Genetics"[submitter] AND "ATRX"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 779057	NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 1757416	NM_000489.6(ATRX):c.7157G>A (p.Arg2386Gln)	ATRX (R2348Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 759127	NM_000489.6(ATRX):c.7044A>G (p.Gln2348=)	ATRX	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 520624	NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)	ATRX (N2296S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 465065	NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser)	ATRX (N2290S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 2083001	NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)	ATRX (R2288C +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 589476	NM_000489.6(ATRX):c.6640T>G (p.Leu2214Val)	ATRX (L2214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 588357	NM_000489.6(ATRX):c.6489T>C (p.Tyr2163=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 2318988	NM_000489.6(ATRX):c.6472A>G (p.Lys2158Glu)	ATRX (K2120E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520997	NM_000489.6(ATRX):c.6409G>A (p.Ala2137Thr)	ATRX (A2137T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985028	NM_000489.6(ATRX):c.6406G>A (p.Asp2136Asn)	ATRX (D2098N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196162	NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GBenign/Likely benign
Select item 3332735	NM_000489.6(ATRX):c.6326+3A>G	ATRX	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3132180	NM_000489.6(ATRX):c.6298G>A (p.Glu2100Lys)	ATRX (E2100K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1575933	NM_000489.6(ATRX):c.6252C>T (p.Tyr2084=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3132179	NM_000489.6(ATRX):c.6182A>C (p.Lys2061Thr)	ATRX (K2023T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 11744	NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)	ATRX (I2012T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 93145	NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)	ATRX (S1990T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1591957	NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser)	ATRX (N1938S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2529295	NM_000489.6(ATRX):c.5863A>G (p.Ile1955Val)	ATRX (I1917V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985288	NM_000489.6(ATRX):c.5832T>A (p.Ser1944Arg)	ATRX (S1906R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1567793	NM_000489.6(ATRX):c.5811G>A (p.Gly1937=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 707287	NM_000489.6(ATRX):c.5787-24GTTT[6]	ATRX	Microsatellite (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 210498	NM_000489.6(ATRX):c.5787-24GTTT[4]	ATRX	Microsatellite (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 590205	NM_000489.6(ATRX):c.5686A>G (p.Lys1896Glu)	ATRX (K1896E +1 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder	GUncertain significance
Select item 1532425	NM_000489.6(ATRX):c.5591G>T (p.Gly1864Val)	ATRX (G1826V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 11724	NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	ATRX (N1822S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +4 more	GBenign/Likely benign
Select item 696453	NM_000489.6(ATRX):c.5566+5A>C	ATRX	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1485426	NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu)	ATRX (Q1810E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 384540	NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe)	ATRX (Y1847F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1747175	NM_000489.6(ATRX):c.5380A>G (p.Met1794Val)	ATRX (M1756V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589393	NM_000489.6(ATRX):c.5349A>G (p.Pro1783=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 590228	NM_000489.6(ATRX):c.5311G>C (p.Gly1771Arg)	ATRX (G1771R +1 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder	GUncertain significance
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 1166507	NM_000489.6(ATRX):c.5184A>G (p.Ala1728=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 1744356	NM_000489.6(ATRX):c.4957-3A>G	ATRX	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely pathogenic
Select item 387933	NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)	ATRX (M1635I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3332768	NM_000489.6(ATRX):c.4847A>G (p.Lys1616Arg)	ATRX (K1616R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588927	NM_000489.6(ATRX):c.4810-3T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 93140	NM_000489.6(ATRX):c.4659T>C (p.His1553=)	ATRX	Single nucleotide variant (synonymous variant)	Acquired hemoglobin H disease +5 more	GBenign
Select item 93138	NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)	ATRX	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1741458	NM_000489.6(ATRX):c.4557+5C>G	ATRX	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 93137	NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)	ATRX (E1464del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 574465	NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys)	ATRX (E1456K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1526344	NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del)	ATRX (E1410del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 587840	NM_000489.6(ATRX):c.4275G>A (p.Arg1425=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 290043	NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)	ATRX	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 285021	NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 533635	NM_000489.6(ATRX):c.4215-5G>A	ATRX	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1738769	NM_000489.6(ATRX):c.4214+19A>T	ATRX	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 284840	NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)	ATRX (E1377G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 193997	NM_000489.6(ATRX):c.4120+4A>C	ATRX	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 587770	NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile)	ATRX (T1358I +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 589032	NM_000489.6(ATRX):c.4047C>T (p.Asp1349=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 434463	NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 533648	NM_000489.6(ATRX):c.3987A>G (p.Glu1329=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 1164940	NM_000489.6(ATRX):c.3972A>G (p.Ser1324=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 520769	NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)	ATRX (K1305Q +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2537293	NM_000489.6(ATRX):c.3883G>A (p.Glu1295Lys)	ATRX (E1257K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 465058	NM_000489.6(ATRX):c.3880G>C (p.Asp1294His)	ATRX (D1294H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3132176	NM_000489.6(ATRX):c.3859G>T (p.Asp1287Tyr)	ATRX (D1287Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229089	NM_000489.6(ATRX):c.3851T>G (p.Leu1284Arg)	ATRX (L1284R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1482621	NM_000489.6(ATRX):c.3791A>G (p.Asp1264Gly)	ATRX (D1226G +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 281530	NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)	ATRX (K1185N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 465054	NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn)	ATRX (K1182N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 133659	NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)	ATRX (V1181L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 446887	NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)	ATRX (K1176M +1 more)	Single nucleotide variant (missense variant)	Developmental disorder +3 more	GConflicting classifications of pathogenicity
Select item 2183251	NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)	ATRX (T1146I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 128492	NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)	ATRX (I1132T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 166712	NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)	ATRX (C1094Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1729683	NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)	ATRX (R1055M +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 424012	NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)	ATRX (D1075G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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)	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GConflicting classifications of pathogenicity
Select item 587774	NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)	ATRX (D1051G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2201936	NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)	ATRX (D1041V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 199029	NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)	ATRX (G1031S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1090021	NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln)	ATRX (E1023Q +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 199030	NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)	ATRX (R1022Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2737799	NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)	ATRX (K955R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 589073	NM_000489.6(ATRX):c.2970A>G (p.Glu990=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 588660	NM_000489.6(ATRX):c.2922C>T (p.Ser974=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 665108	NM_000489.6(ATRX):c.2890A>G (p.Ile964Val)	ATRX (I926V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 389447	NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)	ATRX (D959Y +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1005131	NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)	ATRX (V901L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 985673	NM_000489.6(ATRX):c.2810G>A (p.Arg937Lys)	ATRX (R899K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1006819	NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)	ATRX (E891D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GConflicting classifications of pathogenicity
Select item 93135	NM_000489.6(ATRX):c.2785= (p.Glu929=)	ATRX	Single nucleotide variant (no sequence alteration)	Inborn genetic diseases +4 more	GBenign
Select item 199026	NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)	ATRX (E928Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1164429	NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn)	ATRX (D884N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 533636	NM_000489.6(ATRX):c.2763C>T (p.Val921=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 133658	NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)	ATRX (V921F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1795634	NM_000489.6(ATRX):c.2758G>T (p.Gly920Cys)	ATRX (G882C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1561617	NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr)	ATRX (S877T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 465048	NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)	ATRX (R907Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

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