"GeneDx"[submitter] AND "ARX"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384395	NM_139058.3(ARX):c.*20C>T	ARX	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 385683	NM_139058.3(ARX):c.*2G>C	ARX	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2444536	NM_139058.3(ARX):c.1676A>T (p.Lys559Met)	ARX (K559M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96453	NM_139058.3(ARX):c.1671G>A (p.Thr557=)	ARX	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3372223	NM_139058.3(ARX):c.1670C>A (p.Thr557Lys)	ARX (T557K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581548	NM_139058.3(ARX):c.1668C>T (p.Ser556=)	ARX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3370708	NM_139058.3(ARX):c.1658C>T (p.Pro553Leu)	ARX (P553L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421001	NM_139058.3(ARX):c.1612A>G (p.Lys538Glu)	ARX (K538E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 869403	NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)	ARX (R536T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 372305	NM_139058.3(ARX):c.1593_1599dup (p.Ala534fs)	ARX (A534fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 700273	NM_139058.3(ARX):c.1599C>G (p.Ala533=)	ARX	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 388677	NM_139058.3(ARX):c.1599C>A (p.Ala533=)	ARX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 393263	NM_139058.3(ARX):c.1597G>A (p.Ala533Thr)	ARX (A533T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 699492	NM_139058.3(ARX):c.1572C>T (p.Ala524=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 511201	NM_139058.3(ARX):c.1533A>G (p.Ala511=)	ARX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1310058	NM_139058.3(ARX):c.1532C>A (p.Ala511Glu)	ARX (A511E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511995	NM_139058.3(ARX):c.1521C>A (p.Ala507=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GBenign/Likely benign
Select item 473007	NM_139058.3(ARX):c.1515A>G (p.Thr505=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +3 more	GLikely benign
Select item 1427413	NM_139058.3(ARX):c.1495G>C (p.Ala499Pro)	ARX (A499P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GUncertain significance
Select item 1191390	NM_139058.3(ARX):c.1484C>G (p.Ser495Trp)	ARX (S495W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 941933	NM_139058.3(ARX):c.1475C>G (p.Thr492Ser)	ARX (T492S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 210321	NM_139058.3(ARX):c.1471dup (p.Leu491fs)	ARX (L491fs)	Duplication (frameshift variant)	X-linked lissencephaly with abnormal genitalia +1 more	GPathogenic/Likely pathogenic
Select item 451124	NM_139058.3(ARX):c.1463T>C (p.Met488Thr)	ARX (M488T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 434395	NM_139058.3(ARX):c.1462A>G (p.Met488Val)	ARX (M488V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 514021	NM_139058.3(ARX):c.1461A>G (p.Thr487=)	ARX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1712543	NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)	ARX (L484I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1193893	NM_139058.3(ARX):c.1449-211T>C	ARX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250514	NM_139058.3(ARX):c.1448+161dup	ARX	Duplication (intron variant)	not provided	GBenign
Select item 1208380	NM_139058.3(ARX):c.1448+171del	ARX	Deletion (intron variant)	not provided	GLikely benign
Select item 390241	NM_139058.3(ARX):c.1377G>A (p.Pro459=)	ARX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1190909	NM_139058.3(ARX):c.1372G>C (p.Ala458Pro)	ARX (A458P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926735	NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)	ARX (G457R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GUncertain significance
Select item 96451	NM_139058.3(ARX):c.1347C>T (p.Gly449=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +4 more	GBenign
Select item 1304515	NM_139058.3(ARX):c.1333C>T (p.Pro445Ser)	ARX (P445S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 516395	NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup)	ARX	Microsatellite (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +3 more	GConflicting classifications of pathogenicity
Select item 157743	NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)	ARX	Microsatellite (inframe_insertion)	not provided +4 more	GBenign/Likely benign
Select item 1210879	NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del)	ARX	Microsatellite (inframe_deletion)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GConflicting classifications of pathogenicity
Select item 422907	NM_139058.3(ARX):c.1310_1311insGGC (p.Ala440dup)	ARX	Insertion (inframe_insertion)	not specified	GLikely benign
Select item 420444	NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del)	ARX	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1245269	NM_139058.3(ARX):c.1296C>T (p.Ala432=)	ARX	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1219396	NM_139058.3(ARX):c.1275G>T (p.Ala425=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GLikely benign
Select item 379821	NM_139058.3(ARX):c.1272G>T (p.Pro424=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GBenign/Likely benign
Select item 96449	NM_139058.3(ARX):c.1272G>A (p.Pro424=)	ARX	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1376496	NM_139058.3(ARX):c.1271C>T (p.Pro424Leu)	ARX (P424L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197372	NM_139058.3(ARX):c.1269C>T (p.His423=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +3 more	GConflicting classifications of pathogenicity
Select item 516097	NM_139058.3(ARX):c.1263G>C (p.Pro421=)	ARX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 382129	NM_139058.3(ARX):c.1260T>G (p.Pro420=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 156674	NM_139058.3(ARX):c.1259C>T (p.Pro420Leu)	ARX (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1088868	NM_139058.3(ARX):c.1233C>T (p.Ser411=)	ARX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 156673	NM_139058.3(ARX):c.1216G>A (p.Ala406Thr)	ARX (A406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443512	NM_139058.3(ARX):c.1204G>T (p.Gly402Trp)	ARX (G402W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964299	NM_139058.3(ARX):c.1186C>G (p.Pro396Ala)	ARX (P396A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 234531	NM_139058.3(ARX):c.1170C>T (p.Gly390=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +6 more	GConflicting classifications of pathogenicity
Select item 2429522	NM_139058.3(ARX):c.1165G>A (p.Ala389Thr)	ARX (A389T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156619	NM_139058.3(ARX):c.1141G>A (p.Ala381Thr)	ARX (A381T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 817843	NM_139058.3(ARX):c.1129del (p.Gln377fs)	ARX (Q377fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 676959	NM_139058.3(ARX):c.1120-157C>G	ARX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384736	NM_139058.3(ARX):c.1119+6C>T	ARX	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1339731	NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)	ARX (R371Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely pathogenic
Select item 3252939	NM_139058.3(ARX):c.1109C>T (p.Ala370Val)	ARX (A370V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383533	NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)	ARX (E369K)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136421	NM_139058.3(ARX):c.1074-3T>C	ARX	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign
Select item 1223870	NM_139058.3(ARX):c.1073+279G>C	ARX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245587	NM_139058.3(ARX):c.1073+225C>T	ARX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261217	NM_139058.3(ARX):c.1073+191C>T	ARX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451837	NM_139058.3(ARX):c.1054T>C (p.Tyr352His)	ARX (Y352H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806582	NM_139058.3(ARX):c.1046A>G (p.Lys349Arg)	ARX (K349R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369699	NM_139058.3(ARX):c.1035G>A (p.Arg345=)	ARX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 265040	NM_139058.3(ARX):c.989G>A (p.Arg330His)	ARX (R330H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely pathogenic
Select item 96464	NM_139058.3(ARX):c.980_983del (p.Lys327fs)	ARX (K327fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 392996	NM_139058.3(ARX):c.950G>A (p.Ser317Asn)	ARX (S317N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 416369	NM_139058.3(ARX):c.921C>A (p.Gly307=)	ARX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1695456	NM_139058.3(ARX):c.919G>T (p.Gly307Cys)	ARX (G307C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501922	NM_139058.3(ARX):c.884TGC[4] (p.Leu297_His298insLeu)	ARX	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 385462	NM_139058.3(ARX):c.811A>G (p.Thr271Ala)	ARX (T271A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379078	NM_139058.3(ARX):c.808G>A (p.Ala270Thr)	ARX (A270T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GConflicting classifications of pathogenicity
Select item 157762	NM_139058.3(ARX):c.807C>T (p.Ala269=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +6 more	GBenign/Likely benign
Select item 156672	NM_139058.3(ARX):c.802G>T (p.Val268Leu)	ARX (V268L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 948433	NM_139058.3(ARX):c.794G>A (p.Arg265His)	ARX (R265H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 1695749	NM_139058.3(ARX):c.767C>A (p.Ala256Asp)	ARX (A256D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216161	NM_139058.3(ARX):c.739G>C (p.Asp247His)	ARX (D247H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +2 more	GLikely benign
Select item 507718	NM_139058.3(ARX):c.708T>C (p.Asp236=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 387828	NM_139058.3(ARX):c.681G>C (p.Glu227Asp)	ARX (E227D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 383608	NM_139058.3(ARX):c.674A>T (p.Asp225Val)	ARX (D225V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 234664	NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3])	ARX	Microsatellite (inframe_insertion)	not provided +2 more	GUncertain significance
Select item 540222	NM_139058.3(ARX):c.663C>G (p.Thr221=)	ARX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 386858	NM_139058.3(ARX):c.663C>T (p.Thr221=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GBenign/Likely benign
Select item 2574417	NM_139058.3(ARX):c.658G>A (p.Gly220Ser)	ARX (G220S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706342	NM_139058.3(ARX):c.653G>T (p.Gly218Val)	ARX (G218V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157761	NM_139058.3(ARX):c.651G>T (p.Ala217=)	ARX	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3338775	NM_139058.3(ARX):c.650C>T (p.Ala217Val)	ARX (A217V)	Single nucleotide variant (missense variant)	Partington syndrome +1 more	GUncertain significance
Select item 3340260	NM_139058.3(ARX):c.646G>C (p.Ala216Pro)	ARX (A216P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384600	NM_139058.3(ARX):c.644C>A (p.Pro215Gln)	ARX (P215Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 386397	NM_139058.3(ARX):c.632C>T (p.Pro211Leu)	ARX (P211L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2505602	NM_139058.3(ARX):c.627C>T (p.Gly209=)	ARX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 157760	NM_139058.3(ARX):c.625G>C (p.Gly209Arg)	ARX (G209R)	Single nucleotide variant (missense variant)	epileptic encephalopathy, early infanitle, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1253791	NM_139058.3(ARX):c.623C>T (p.Ala208Val)	ARX (A208V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512275	NM_139058.3(ARX):c.596C>G (p.Thr199Arg)	ARX (T199R)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 1208287	NM_139058.3(ARX):c.591C>T (p.Gly197=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 96457	NM_139058.3(ARX):c.590G>A (p.Gly197Asp)	ARX (G197D)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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