ClinVar for MedGen (Select 483052) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 3243520	NC_000016.9:g.(?_78143655)_(78466669_?)dup	WWOX	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely pathogenic
Select item 3243519	NC_000016.9:g.(?_78133656)_(78198206_?)dup	LOC132090428, LOC132090429 +1 more	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GUncertain significance
Select item 3243518	NC_000016.9:g.(?_78420737)_(78420865_?)dup	WWOX	Duplication	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely pathogenic
Select item 3243517	NC_000016.9:g.(?_78458747)_(79245693_?)del	WWOX	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3243514	NC_000016.9:g.(?_78142300)_(78198206_?)del	WWOX	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3243513	NC_000016.9:g.(?_78133676)_(78149071_?)del	WWOX	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
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 2954523	NM_016373.4(WWOX):c.912C>G (p.Ser304=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2954488	NM_139058.3(ARX):c.273G>A (p.Pro91=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2954428	NM_139058.3(ARX):c.42C>T (p.Pro14=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2954362	NM_139058.3(ARX):c.1446C>G (p.Gly482=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2954199	NM_139058.3(ARX):c.594C>T (p.Val198=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2954193	NM_016373.4(WWOX):c.517-6T>C	WWOX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2954131	NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)	TBC1D24 (H195Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2954106	NM_139058.3(ARX):c.276C>T (p.Gly92=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2953993	NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)	ARX (A425fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2953863	NM_139058.3(ARX):c.27C>G (p.Gly9=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2953832	NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)	TBC1D24 (A465S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2953828	NM_139058.3(ARX):c.597G>T (p.Thr199=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2953648	NM_139058.3(ARX):c.492G>A (p.Ala164=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	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 2953490	NM_016373.4(WWOX):c.516+16T>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2953437	NM_139058.3(ARX):c.988C>T (p.Arg330Cys)	ARX (R330C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2952998	NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)	TBC1D24 (V199A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2952954	NM_016373.4(WWOX):c.605+18G>A	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2952870	NM_139058.3(ARX):c.790C>A (p.Arg264=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2952794	NM_139058.3(ARX):c.550C>G (p.Pro184Ala)	ARX (P184A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
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 2952618	NM_139058.3(ARX):c.597G>A (p.Thr199=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +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 2952409	NM_139058.3(ARX):c.498G>A (p.Gln166=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2952364	NM_139058.3(ARX):c.1299_1313dup (p.Ala440_Phe441insAlaAlaAlaAlaAla)	ARX	Duplication (inframe_insertion)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2952339	NM_139058.3(ARX):c.239A>G (p.His80Arg)	ARX (H80R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2952320	NM_139058.3(ARX):c.1073+8C>A	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2952208	NM_139058.3(ARX):c.1448+8G>A	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2952157	NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)	TBC1D24 (V96M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2952095	NM_139058.3(ARX):c.1185C>T (p.Pro395=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2951992	NM_139058.3(ARX):c.1158G>T (p.Arg386=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2951956	NM_001199107.2(TBC1D24):c.1608G>A (p.Gln536=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2951695	NM_139058.3(ARX):c.197-15C>T	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2951632	NM_016373.4(WWOX):c.306C>T (p.Thr102=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2951609	NM_016373.4(WWOX):c.252C>T (p.Thr84=)	WWOX	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2951472	NM_139058.3(ARX):c.831A>G (p.Ala277=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2951440	NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)	TBC1D24 (P460A +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2951388	NM_139058.3(ARX):c.504C>T (p.Ser168=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2951354	NM_016373.4(WWOX):c.107+12G>C	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +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 2951315	NM_139058.3(ARX):c.924G>A (p.Glu308=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2951080	NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)	WWOX (R160fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 2950977	NM_139058.3(ARX):c.486_489del (p.Ser162fs)	ARX (S162fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2950866	NM_139058.3(ARX):c.690G>T (p.Leu230=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2950792	NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)	TBC1D24 (G165C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
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 2950692	NM_016373.4(WWOX):c.954G>C (p.Ser318=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2950691	NM_016373.4(WWOX):c.813C>G (p.Ser271=)	WWOX	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2950612	NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)	TBC1D24 (Y517C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2950420	NM_016373.4(WWOX):c.107+10C>G	WWOX	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2950255	NM_139058.3(ARX):c.1095G>C (p.Leu365=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
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 2950183	NM_001199107.2(TBC1D24):c.1384G>T (p.Glu462Ter)	TBC1D24 (E462* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 2950158	NM_139058.3(ARX):c.219C>T (p.Ala73=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2950023	NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)	TBC1D24 (P451S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2950021	NM_016373.4(WWOX):c.231-10T>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2949854	NM_139058.3(ARX):c.1337C>T (p.Pro446Leu)	ARX (P446L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2949808	NM_001199107.2(TBC1D24):c.1525+10A>G	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2949760	NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)	TBC1D24 (V323M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 2949593	NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)	TBC1D24 (S281Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2949492	NM_016373.4(WWOX):c.172+17C>G	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2949310	NM_016373.4(WWOX):c.605+7G>C	WWOX	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2949203	NM_139058.3(ARX):c.197G>C (p.Gly66Ala)	ARX (G66A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2948999	NM_139058.3(ARX):c.85A>G (p.Ile29Val)	ARX (I29V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2948979	NM_001199107.2(TBC1D24):c.1620C>G (p.Ser540=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2948737	NM_139058.3(ARX):c.641C>A (p.Ala214Asp)	ARX (A214D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2948685	NM_139058.3(ARX):c.1448+11G>C	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2948668	NM_139058.3(ARX):c.1338G>T (p.Pro446=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2948660	NM_139058.3(ARX):c.810C>T (p.Ala270=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2948527	NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)	TBC1D24 (Y6H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2948398	NM_001199107.2(TBC1D24):c.337dup (p.Ala113fs)	TBC1D24 (A113fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 2948342	NM_139058.3(ARX):c.144G>A (p.Gln48=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2948198	NM_001199107.2(TBC1D24):c.1306C>T (p.Gln436Ter)	TBC1D24 (Q430* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GPathogenic
Select item 2947979	NM_139058.3(ARX):c.1448+19del	ARX	Deletion (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2947819	NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)	TBC1D24	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
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 2947635	NM_139058.3(ARX):c.107G>A (p.Arg36Lys)	ARX (R36K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2947627	NM_139058.3(ARX):c.1119+14C>T	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2947588	NM_139058.3(ARX):c.1074-5T>C	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2947242	NM_139058.3(ARX):c.495G>T (p.Pro165=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2947223	NM_001199107.2(TBC1D24):c.965+15G>T	TBC1D24	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GLikely benign
Select item 2947131	NM_139058.3(ARX):c.549G>A (p.Val183=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2947087	NM_016373.4(WWOX):c.477A>T (p.Ala159=)	WWOX	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive spinocerebellar ataxia 12 +1 more	GLikely benign
Select item 2946966	NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)	TBC1D24 (S264N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2946828	NM_139058.3(ARX):c.55A>C (p.Lys19Gln)	ARX (K19Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2946591	NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)	TBC1D24 (L368V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 65 +2 more	GUncertain significance
Select item 2946573	NM_139058.3(ARX):c.1362G>T (p.Pro454=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2946438	NM_139058.3(ARX):c.1230C>G (p.Leu410=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
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

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