Related gene-specific medical variations for Gene (Select 170302) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366835	NM_139058.3(ARX):c.457del (p.Ala153fs)	ARX, LOC109610631 (A153fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1	GPathogenic
Select item 3362041	NM_139058.3(ARX):c.52A>G (p.Ser18Gly)	ARX (S18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352226	NM_139058.3(ARX):c.387A>G (p.Pro129=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	ARX-related disorder	GLikely benign
Select item 3252464	NM_139058.3(ARX):c.306GGC[16] (p.Ala115_Thr116insAlaAlaAlaAlaAlaAla)	ARX, LOC109610631	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3245505	NC_000023.10:g.(?_25022787)_(25033854_?)dup	ARX	Duplication	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 3055442	NM_139058.3(ARX):c.456C>T (p.Ala152=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	ARX-related disorder	GLikely benign
Select item 3047525	NM_139058.3(ARX):c.396C>A (p.Thr132=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	ARX-related disorder	GLikely benign
Select item 2953534	NM_139058.3(ARX):c.324G>A (p.Ala108=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2952512	NM_139058.3(ARX):c.312G>C (p.Ala104=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2951324	NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)	ARX, LOC109610631	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2950736	NM_139058.3(ARX):c.416C>T (p.Pro139Leu)	ARX, LOC109610631 (P139L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2946396	NM_139058.3(ARX):c.462G>C (p.Ala154=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2944554	NM_139058.3(ARX):c.432C>G (p.Ala144=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2943744	NM_139058.3(ARX):c.333G>T (p.Ala111=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2943273	NM_139058.3(ARX):c.456C>A (p.Ala152=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2941484	NM_139058.3(ARX):c.442G>C (p.Ala148Pro)	ARX, LOC109610631 (A148P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2941462	NM_139058.3(ARX):c.387A>C (p.Pro129=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940318	NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)	ARX, LOC109610631	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940184	NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)	ARX, LOC109610631	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2938733	NM_139058.3(ARX):c.414G>A (p.Arg138=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2938412	NM_139058.3(ARX):c.437C>G (p.Ala146Gly)	ARX, LOC109610631 (A146G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2937547	NM_139058.3(ARX):c.303A>C (p.Ala101=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2937168	NM_139058.3(ARX):c.306G>C (p.Ala102=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2931166	NM_139058.3(ARX):c.450C>T (p.Ala150=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2930780	NM_139058.3(ARX):c.363A>G (p.Pro121=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2930254	NM_139058.3(ARX):c.333G>C (p.Ala111=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2930060	NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)	ARX, LOC109610631	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2928857	NM_139058.3(ARX):c.426A>C (p.Ala142=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2927540	NM_139058.3(ARX):c.453G>A (p.Ala151=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2923738	NM_139058.3(ARX):c.354G>A (p.Thr118=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2922745	NM_139058.3(ARX):c.414G>T (p.Arg138=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2922158	NM_139058.3(ARX):c.311C>T (p.Ala104Val)	ARX, LOC109610631 (A104V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 2921880	NM_139058.3(ARX):c.409del (p.Glu137fs)	ARX, LOC109610631 (E137fs)	Deletion (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic
Select item 2691300	NM_139058.3(ARX):c.451_464del (p.Ala151fs)	ARX, LOC109610631 (A151fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1	GPathogenic
Select item 2688609	NM_139058.3(ARX):c.446C>T (p.Ala149Val)	ARX, LOC109610631 (A149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683584	NM_139058.3(ARX):c.367G>A (p.Gly123Arg)	ARX, LOC109610631 (G123R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660200	NM_139058.3(ARX):c.462G>A (p.Ala154=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572722	NM_139058.3(ARX):c.461C>T (p.Ala154Val)	ARX, LOC109610631 (A154V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571359	NM_139058.3(ARX):c.456C>G (p.Ala152=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490369	NM_139058.3(ARX):c.395C>T (p.Thr132Ile)	ARX, LOC109610631 (T132I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443983	NM_139058.3(ARX):c.859G>A (p.Gly287Arg)	ARX (G287R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related	GUncertain significance
Select item 2439219	NM_139058.3(ARX):c.668C>A (p.Thr223Asn)	ARX (T223N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439218	NM_139058.3(ARX):c.803T>G (p.Val268Gly)	ARX (V268G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439217	NM_139058.3(ARX):c.34G>A (p.Glu12Lys)	ARX (E12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439216	NM_139058.3(ARX):c.1161G>C (p.Glu387Asp)	ARX (E387D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439214	NM_139058.3(ARX):c.376C>A (p.Pro126Thr)	ARX, LOC109610631 (P126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388446	NM_139058.3(ARX):c.446C>A (p.Ala149Glu)	ARX, LOC109610631 (A149E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388360	NM_139058.3(ARX):c.445G>C (p.Ala149Pro)	ARX, LOC109610631 (A149P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201958	NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)	LOC109610631, ARX	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2201778	NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)	ARX, LOC109610631	Insertion (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2156049	NM_139058.3(ARX):c.426A>T (p.Ala142=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2115200	NM_139058.3(ARX):c.435C>G (p.Ala145=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2103487	NM_139058.3(ARX):c.378_459del (p.Pro127fs)	ARX, LOC109610631 (P127fs)	Deletion (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic
Select item 2099750	NM_139058.3(ARX):c.432C>T (p.Ala144=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2062460	NM_139058.3(ARX):c.312G>T (p.Ala104=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2050777	NM_139058.3(ARX):c.303_305del (p.Ala115del)	ARX, LOC109610631 (A115del)	Deletion (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1998762	NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)	ARX, LOC109610631	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1996210	NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1993323	NM_139058.3(ARX):c.357_391del (p.Gly120fs)	ARX, LOC109610631 (G120fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +2 more	GPathogenic
Select item 1918085	NM_139058.3(ARX):c.448G>A (p.Ala150Thr)	ARX, LOC109610631 (A150T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1900159	NM_139058.3(ARX):c.300G>C (p.Ala100=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1742031	NM_139058.3(ARX):c.462G>T (p.Ala154=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1740453	NM_139058.3(ARX):c.441A>T (p.Ala147=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1714909	NM_139058.3(ARX):c.347C>T (p.Thr116Met)	ARX, LOC109610631 (T116M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1712914	NM_139058.3(ARX):c.388C>A (p.Pro130Thr)	LOC109610631, ARX (P130T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711702	NM_139058.3(ARX):c.412C>A (p.Arg138=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1697301	NM_139058.3(ARX):c.370G>T (p.Glu124Ter)	ARX, LOC109610631 (E124*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1	GPathogenic
Select item 1690316	NM_139058.3(ARX):c.1151G>T (p.Arg384Leu)	ARX (R384L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1631889	NM_139058.3(ARX):c.433G>T (p.Ala145Ser)	ARX, LOC109610631 (A145S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GConflicting classifications of pathogenicity
Select item 1612509	NM_139058.3(ARX):c.399G>A (p.Ala133=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1554862	NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del)	ARX, LOC109610631	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1548308	NM_139058.3(ARX):c.361C>A (p.Pro121Thr)	ARX, LOC109610631 (P121T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GBenign
Select item 1519650	NM_139058.3(ARX):c.455C>G (p.Ala152Gly)	ARX, LOC109610631 (A152G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 1509359	NM_139058.3(ARX):c.389C>T (p.Pro130Leu)	ARX, LOC109610631 (P130L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1502117	NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala)	ARX, LOC109610631 (T116A)	Indel (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1498556	NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)	ARX, LOC109610631	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1426196	NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup)	ARX, LOC109610631	Duplication (inframe_insertion)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 1420061	NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del)	ARX, LOC109610631	Microsatellite (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 1419440	NM_139058.3(ARX):c.421G>A (p.Gly141Ser)	ARX, LOC109610631 (G141S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GConflicting classifications of pathogenicity
Select item 1416525	NM_139058.3(ARX):c.415C>A (p.Pro139Thr)	ARX, LOC109610631 (P139T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 1395940	NM_139058.3(ARX):c.373G>A (p.Ala125Thr)	ARX, LOC109610631 (A125T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GUncertain significance
Select item 1395120	NM_139058.3(ARX):c.430G>T (p.Ala144Ser)	ARX, LOC109610631 (A144S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GUncertain significance
Select item 1369936	NM_139058.3(ARX):c.452C>T (p.Ala151Val)	ARX, LOC109610631 (A151V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 1366988	NM_139058.3(ARX):c.365G>A (p.Arg122His)	ARX, LOC109610631 (R122H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1327827	NM_139058.3(ARX):c.406G>A (p.Gly136Arg)	ARX, LOC109610631 (G136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298389	NM_139058.3(ARX):c.1358T>G (p.Leu453Arg)	ARX (L453R)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 1285808	NM_139058.3(ARX):c.463_465del (p.Ala155del)	ARX, LOC109610631 (A155del)	Deletion (inframe_deletion)	not provided	GBenign
Select item 1235070	NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)	ARX, LOC109610631	Deletion (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GBenign/Likely benign
Select item 1208549	NM_139058.3(ARX):c.306GGC[15] (p.Ala111_Ala115dup)	ARX, LOC109610631	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1196780	NM_139058.3(ARX):c.337_338insGCG (p.Ala112_Ala113insGly)	ARX, LOC109610631	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 1179761	NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)	ARX, LOC109610631	Deletion (inframe_deletion)	not provided +2 more	GBenign
Select item 1139179	NM_139058.3(ARX):c.342C>G (p.Ala114=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1131962	NM_139058.3(ARX):c.457G>A (p.Ala153Thr)	ARX, LOC109610631 (A153T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1131684	NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del)	ARX, LOC109610631	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1124746	NM_139058.3(ARX):c.390G>T (p.Pro130=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1114821	NM_139058.3(ARX):c.420C>T (p.Asp140=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1112975	NM_139058.3(ARX):c.330G>C (p.Ala110=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1112422	NM_139058.3(ARX):c.345C>G (p.Ala115=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1103912	NM_139058.3(ARX):c.327G>A (p.Ala109=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1100864	NM_139058.3(ARX):c.312G>A (p.Ala104=)	ARX, LOC109610631	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign

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