ARX[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11189	NM_139058.3(ARX):c.1449-816_*460del	ARX	Deletion (splice acceptor variant)	Developmental and epileptic encephalopathy, 1	GPathogenic
Select item 384395	NM_139058.3(ARX):c.*20C>T	ARX	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3047773	NM_139058.3(ARX):c.*5T>G	ARX	Single nucleotide variant (3 prime UTR variant)	ARX-related disorder	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 982931	NM_139058.3(ARX):c.1684T>C (p.Cys562Arg)	ARX (C562R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 1086296	NM_139058.3(ARX):c.1677G>A (p.Lys559=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	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 793596	NM_139058.3(ARX):c.1674C>A (p.Gly558=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
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 2947809	NM_139058.3(ARX):c.1670C>G (p.Thr557Arg)	ARX (T557R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	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 2939098	NM_139058.3(ARX):c.1659G>A (p.Pro553=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2926720	NM_139058.3(ARX):c.1641G>A (p.Thr547=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2939954	NM_139058.3(ARX):c.1638C>T (p.Leu546=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2928650	NM_139058.3(ARX):c.1638C>G (p.Leu546=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2660199	NM_139058.3(ARX):c.1629G>A (p.Ala543=)	ARX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1776661	NM_139058.3(ARX):c.1624C>A (p.His542Asn)	ARX (H542N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331554	NM_139058.3(ARX):c.1623G>C (p.Glu541Asp)	ARX (E541D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507271	NM_139058.3(ARX):c.1621G>T (p.Glu541Ter)	ARX (E541*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 803780	NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)	ARX (S531fs)	Deletion (frameshift variant)	Corpus callosum agenesis-abnormal genitalia syndrome	GLikely pathogenic
Select item 1016456	NM_139058.3(ARX):c.1618A>G (p.Lys540Glu)	ARX (K540E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 953570	NM_139058.3(ARX):c.1616C>T (p.Ala539Val)	ARX (A539V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1516361	NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)	ARX (A539T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely pathogenic
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 1968236	NM_139058.3(ARX):c.1611C>G (p.Leu537=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1878533	NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)	ARX (L537P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GUncertain significance
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 624394	NM_139058.3(ARX):c.1605G>C (p.Leu535=)	ARX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2922296	NM_139058.3(ARX):c.1604T>C (p.Leu535Pro)	ARX (L535P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 29965	NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)	ARX (L535Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GPathogenic
Select item 2937610	NM_139058.3(ARX):c.1602G>C (p.Ala534=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2929271	NM_139058.3(ARX):c.1602G>A (p.Ala534=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2138495	NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)	ARX (A534P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +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 2931051	NM_139058.3(ARX):c.1590T>A (p.Ser530=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 870181	NM_139058.3(ARX):c.1589C>G (p.Ser530Cys)	ARX (S530C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 2092520	NM_139058.3(ARX):c.1587C>G (p.Ala529=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 758246	NM_139058.3(ARX):c.1587C>T (p.Ala529=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1775756	NM_139058.3(ARX):c.1583G>T (p.Arg528Leu)	ARX (R528L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373949	NM_139058.3(ARX):c.1579_1582del (p.Arg527fs)	ARX (R527fs)	Microsatellite (frameshift variant)	Generalized hypotonia	GLikely pathogenic
Select item 663628	NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)	ARX (R527*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2186246	NM_139058.3(ARX):c.1575A>T (p.Ala525=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
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 2952793	NM_139058.3(ARX):c.1569G>A (p.Ala523=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 797407	NM_139058.3(ARX):c.1569G>C (p.Ala523=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2943591	NM_139058.3(ARX):c.1568C>T (p.Ala523Val)	ARX (A523V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2950254	NM_139058.3(ARX):c.1566G>C (p.Thr522=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 210322	NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)	ARX (A521T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 574104	NM_139058.3(ARX):c.1520_1560del (p.Ala507fs)	ARX (A507fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2943777	NM_139058.3(ARX):c.1559del (p.Pro520fs)	ARX (P520fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2384434	NM_139058.3(ARX):c.1556A>C (p.Asp519Ala)	ARX (D519A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 641421	NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)	ARX (D519fs)	Insertion (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic
Select item 1704275	NM_139058.3(ARX):c.1552del (p.Ala518fs)	ARX (A518fs)	Deletion (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related	GLikely pathogenic
Select item 434399	NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs)	ARX (V512fs)	Indel (frameshift variant)	Hydranencephaly with abnormal genitalia	GPathogenic
Select item 1499353	NM_139058.3(ARX):c.1546G>C (p.Ala516Pro)	ARX (A516P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 976121	NM_139058.3(ARX):c.1546G>T (p.Ala516Ser)	ARX (A516S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 157749	NM_139058.3(ARX):c.1544del (p.Gly515fs)	ARX (G515fs)	Deletion (frameshift variant)	epileptic encephalopathy, early infanitle, 1	GPathogenic
Select item 1573670	NM_139058.3(ARX):c.1542G>C (p.Ser514=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1107125	NM_139058.3(ARX):c.1542G>A (p.Ser514=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 956067	NM_139058.3(ARX):c.1541C>G (p.Ser514Trp)	ARX (S514W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
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 3024090	NM_139058.3(ARX):c.1531dup (p.Ala511fs)	ARX (A511fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 1	GLikely pathogenic
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 2932269	NM_139058.3(ARX):c.1530C>A (p.Gly510=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 959998	NM_139058.3(ARX):c.1529G>A (p.Gly510Asp)	ARX (G510D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 1704274	NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)	ARX (E509fs)	Duplication (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related	GPathogenic
Select item 1168385	NM_139058.3(ARX):c.1524G>A (p.Val508=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GBenign
Select item 976056	NM_139058.3(ARX):c.1522G>A (p.Val508Met)	ARX (V508M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	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 778779	NM_139058.3(ARX):c.1518C>G (p.Pro506=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely 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 96452	NM_139058.3(ARX):c.1515A>C (p.Thr505=)	ARX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1134400	NM_139058.3(ARX):c.1503G>A (p.Leu501=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2933138	NM_139058.3(ARX):c.1500C>G (p.Leu500=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1498340	NM_139058.3(ARX):c.1498C>A (p.Leu500Ile)	ARX (L500I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2098307	NM_139058.3(ARX):c.1497del (p.Leu500fs)	ARX (L500fs)	Deletion (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic
Select item 1615126	NM_139058.3(ARX):c.1497G>T (p.Ala499=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
Select item 1109702	NM_139058.3(ARX):c.1497G>A (p.Ala499=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 1087515	NM_139058.3(ARX):c.1497G>C (p.Ala499=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2416977	NM_139058.3(ARX):c.1496C>T (p.Ala499Val)	ARX (A499V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
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 1328434	NM_139058.3(ARX):c.1495G>A (p.Ala499Thr)	ARX (A499T)	Single nucleotide variant (missense variant)	Partington syndrome	GUncertain significance
Select item 2938947	NM_139058.3(ARX):c.1494C>G (p.Ala498=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 797517	NM_139058.3(ARX):c.1491G>T (p.Ala497=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 487355	NM_139058.3(ARX):c.1489G>C (p.Ala497Pro)	ARX (A497P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 697948	NM_139058.3(ARX):c.1488C>T (p.Thr496=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +2 more	GLikely benign
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 2120205	NM_139058.3(ARX):c.1479C>T (p.Ser493=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 810538	NM_139058.3(ARX):c.1479C>G (p.Ser493Arg)	ARX (S493R)	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 1996068	NM_139058.3(ARX):c.1473G>C (p.Leu491=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 1299655	NM_139058.3(ARX):c.1472del (p.Leu491fs)	ARX (L491fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1	GPathogenic
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 1010226	NM_139058.3(ARX):c.1471C>A (p.Leu491Met)	ARX (L491M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 872755	NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	ARX	Deletion (nonsense)	not provided +2 more	GPathogenic
Select item 2922676	NM_139058.3(ARX):c.1470C>A (p.Pro490=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 210320	NM_139058.3(ARX):c.1449-82_1469dup	ARX	Duplication (splice acceptor variant)	X-linked lissencephaly with abnormal genitalia	GPathogenic

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