ClinVar for Gene (Select 546) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253437	NM_000489.6(ATRX):c.733C>G (p.Leu245Val)	ATRX (L207V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253244	NM_000489.6(ATRX):c.3853T>C (p.Ser1285Pro)	ATRX (S1247P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250443	NM_000489.6(ATRX):c.4943A>G (p.Asp1648Gly)	ATRX (D1610G +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244761	NC_000023.10:g.(?_76829695)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Menkes kinky-hair syndrome +2 more	GUncertain significance
Select item 3244530	NC_000023.10:g.(?_76907608)_(76974315_?)del	ATRX	Deletion	Alpha thalassemia-X-linked intellectual disability syndrome	GPathogenic
Select item 3244519	NC_000023.10:g.(?_76776246)_(77113014_?)dup	ATRX, MAGT1	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244508	NC_000023.10:g.(?_76890065)_(77302067_?)dup	ATP7A, ATRX +3 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3244497	NC_000023.10:g.(?_76907584)_(77381327_?)dup	ATP7A, ATRX +4 more	Duplication	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
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 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239495	NM_000489.6(ATRX):c.3839T>A (p.Ile1280Asn)	ATRX (I1242N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233402	NM_000489.6(ATRX):c.371-1201G>A	ATRX	Single nucleotide variant (intron variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GPathogenic
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 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 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 3132174	NM_000489.6(ATRX):c.2491A>G (p.Ile831Val)	ATRX (I793V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132173	NM_000489.6(ATRX):c.1413T>G (p.Ser471Arg)	ATRX (S433R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066026	NM_000489.6(ATRX):c.667T>C (p.Cys223Arg)	ATRX (C185R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GLikely pathogenic
Select item 3064828	NM_000489.6(ATRX):c.711T>G (p.Asn237Lys)	ATRX (N199K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3064125	NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)	ATRX (R1623C +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely pathogenic
Select item 3063818	NM_000489.6(ATRX):c.4314_4316dup (p.Asn1438_Lys1439insAsn)	ATRX	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
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 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 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 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 3049230	NM_000489.6(ATRX):c.3570A>G (p.Arg1190=)	ATRX	Single nucleotide variant (synonymous variant)	ATRX-related disorder	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 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 3043099	NM_000489.6(ATRX):c.370+4A>G	ATRX	Single nucleotide variant (intron variant)	ATRX-related disorder	GLikely benign
Select item 3027118	NM_000489.6(ATRX):c.5782A>G (p.Thr1928Ala)	ATRX (T1890A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025640	NM_000489.6(ATRX):c.5452A>G (p.Lys1818Glu)	ATRX (K1780E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	GPC4, TAF9B +488 more	Copy number gain	not provided	GPathogenic
Select item 3024233	NM_000489.6(ATRX):c.6742A>G (p.Ile2248Val)	ATRX (I2210V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +2 more	GUncertain significance
Select item 3023864	NM_000489.6(ATRX):c.4586C>T (p.Thr1529Ile)	ATRX (T1529I +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3023540	NM_000489.6(ATRX):c.24A>G (p.Glu8=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3022712	NM_000489.6(ATRX):c.4230A>G (p.Ala1410=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3021120	NM_000489.6(ATRX):c.5697+19T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3021014	NM_000489.6(ATRX):c.4121-11T>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3018989	NM_000489.6(ATRX):c.4215-18G>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3018910	NM_000489.6(ATRX):c.3359A>T (p.Asp1120Val)	ATRX (D1082V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3018795	NM_000489.6(ATRX):c.5170C>T (p.Leu1724=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3018012	NM_000489.6(ATRX):c.5448+18A>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3017631	NM_000489.6(ATRX):c.5273-4T>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3017600	NM_000489.6(ATRX):c.2876A>G (p.Asp959Gly)	ATRX (D921G +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3017436	NM_000489.6(ATRX):c.2861G>T (p.Cys954Phe)	ATRX (C954F +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3016829	NM_000489.6(ATRX):c.1454C>G (p.Thr485Arg)	ATRX (T447R +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3016441	NM_000489.6(ATRX):c.1146A>G (p.Glu382=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3014079	NM_000489.6(ATRX):c.1961G>A (p.Arg654Gln)	ATRX (R654Q +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3013677	NM_000489.6(ATRX):c.2286G>C (p.Lys762Asn)	ATRX (K724N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3013536	NM_000489.6(ATRX):c.142A>G (p.Ser48Gly)	ATRX (S48G)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3013533	NM_000489.6(ATRX):c.1932T>G (p.Val644=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3013189	NM_000489.6(ATRX):c.1719T>C (p.Gly573=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3012938	NM_000489.6(ATRX):c.3777TGA[5] (p.Asp1264_Asn1265insAsp)	ATRX	Microsatellite (inframe_insertion)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3012925	NM_000489.6(ATRX):c.1574C>G (p.Pro525Arg)	ATRX (P487R +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3011857	NM_000489.6(ATRX):c.4053A>G (p.Glu1351=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3011815	NM_000489.6(ATRX):c.2184T>C (p.Asn728=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3009771	NM_000489.6(ATRX):c.5134+10_5134+11insTTA	ATRX	Insertion (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3009734	NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 3009602	NM_000489.6(ATRX):c.5135-16C>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3008845	NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3008592	NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)	ATRX (K801E +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3008468	NM_000489.6(ATRX):c.4956+17G>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3007954	NM_000489.6(ATRX):c.1504C>A (p.Pro502Thr)	ATRX (P464T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3007697	NM_000489.6(ATRX):c.2218G>A (p.Glu740Lys)	ATRX (E702K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3007445	NM_000489.6(ATRX):c.484+11G>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3006076	NM_000489.6(ATRX):c.6186A>G (p.Thr2062=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3004618	NM_000489.6(ATRX):c.215A>T (p.Lys72Met)	ATRX (K72M)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 3004373	NM_000489.6(ATRX):c.6714A>G (p.Ala2238=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3004263	NM_000489.6(ATRX):c.4189G>A (p.Glu1397Lys)	ATRX (E1359K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3003918	NM_000489.6(ATRX):c.1665A>G (p.Glu555=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3003685	NM_000489.6(ATRX):c.3943+11C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3001898	NM_000489.6(ATRX):c.1997G>A (p.Arg666Gln)	ATRX (R666Q +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 3000188	NM_000489.6(ATRX):c.2355A>C (p.Thr785=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2998604	NM_000489.6(ATRX):c.5385A>G (p.Val1795=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2998521	NM_000489.6(ATRX):c.1908T>C (p.Asn636=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2997767	NM_000489.6(ATRX):c.1706A>G (p.Asp569Gly)	ATRX (D531G +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2997652	NM_000489.6(ATRX):c.6699+8T>C	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2994784	NM_000489.6(ATRX):c.975T>C (p.Asn325=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2994686	NM_000489.6(ATRX):c.4810-16A>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2994452	NM_000489.6(ATRX):c.5262C>T (p.Asn1754=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2994159	NM_000489.6(ATRX):c.5956+20C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2990806	NM_000489.6(ATRX):c.6110+13C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2989955	NM_000489.6(ATRX):c.2478G>C (p.Lys826Asn)	ATRX (K788N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2989578	NM_000489.6(ATRX):c.2085G>A (p.Val695=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2989273	NM_000489.6(ATRX):c.959C>G (p.Thr320Ser)	ATRX (T282S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2987780	NM_000489.6(ATRX):c.1101C>T (p.Asn367=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2987779	NM_000489.6(ATRX):c.6576G>A (p.Gln2192=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2986077	NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2985017	NM_000489.6(ATRX):c.1311T>G (p.Ala437=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GBenign
Select item 2977870	NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)	ATRX (R802S +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2977520	NM_000489.6(ATRX):c.134-12C>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2976722	NM_000489.6(ATRX):c.5703T>C (p.Tyr1901=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2973238	NM_000489.6(ATRX):c.4558-12C>T	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2972651	NM_000489.6(ATRX):c.4744A>G (p.Thr1582Ala)	ATRX (T1582A +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GUncertain significance
Select item 2972253	NM_000489.6(ATRX):c.6505-14T>A	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 2971663	NM_000489.6(ATRX):c.4147G>A (p.Asp1383Asn)	ATRX (D1383N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign

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