ClinVar for MedGen (Select 208681) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 617

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2947979	NM_139058.3(ARX):c.1448+19del	ARX	Deletion (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
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 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 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 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
Select item 2946370	NM_139058.3(ARX):c.1399G>A (p.Gly467Arg)	ARX (G467R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2945954	NM_139058.3(ARX):c.1026A>G (p.Glu342=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2945577	NM_139058.3(ARX):c.1083G>C (p.Leu361=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2945360	NM_139058.3(ARX):c.780C>T (p.Leu260=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2945277	NM_139058.3(ARX):c.1362G>A (p.Pro454=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2945226	NM_139058.3(ARX):c.193C>T (p.Gln65Ter)	ARX (Q65*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic
Select item 2945006	NM_139058.3(ARX):c.865C>T (p.Leu289=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2944887	NM_139058.3(ARX):c.1320C>T (p.Ala440=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2944812	NM_139058.3(ARX):c.681G>A (p.Glu227=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2944798	NM_139058.3(ARX):c.713A>T (p.Asp238Val)	ARX (D238V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 2944783	NM_139058.3(ARX):c.1240C>G (p.Leu414Val)	ARX (L414V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 2944645	NM_139058.3(ARX):c.132G>C (p.Leu44=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2944554	NM_139058.3(ARX):c.432C>G (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 2944548	NM_139058.3(ARX):c.1449-11T>C	ARX	Single nucleotide variant (intron variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2944098	NM_139058.3(ARX):c.1312G>A (p.Ala438Thr)	ARX (A438T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 2944025	NM_139058.3(ARX):c.948C>T (p.Gly316=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2943963	NM_139058.3(ARX):c.1116C>A (p.Val372=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2943949	NM_139058.3(ARX):c.748G>A (p.Glu250Lys)	ARX (E250K)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 2943787	NM_139058.3(ARX):c.1017G>A (p.Gln339=)	ARX	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GLikely benign
Select item 2943777	NM_139058.3(ARX):c.1559del (p.Pro520fs)	ARX (P520fs)	Deletion (frameshift variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic
Select item 2943744	NM_139058.3(ARX):c.333G>T (p.Ala111=)	ARX, LOC109610631	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 +1 more	GUncertain significance
Select item 2943557	NM_139058.3(ARX):c.547G>C (p.Val183Leu)	ARX (V183L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
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 2942937	NM_139058.3(ARX):c.1443C>T (p.Phe481=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2942783	NM_139058.3(ARX):c.936C>T (p.Cys312=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2942369	NM_139058.3(ARX):c.43G>C (p.Glu15Gln)	ARX (E15Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2941851	NM_139058.3(ARX):c.1073+14G>T	ARX	Single nucleotide variant (intron 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 2941405	NM_139058.3(ARX):c.104G>A (p.Arg35Gln)	ARX (R35Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2941087	NM_139058.3(ARX):c.225C>G (p.Phe75Leu)	ARX (F75L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2940905	NM_139058.3(ARX):c.1180_1187del (p.His394fs)	ARX (H394fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 1 +1 more	GPathogenic
Select item 2940885	NM_139058.3(ARX):c.1449-20G>A	ARX	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940764	NM_139058.3(ARX):c.1305C>T (p.Ala435=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940701	NM_139058.3(ARX):c.618C>T (p.Gly206=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940653	NM_139058.3(ARX):c.561C>G (p.Pro187=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940571	NM_139058.3(ARX):c.858C>T (p.Gly286=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2940557	NM_139058.3(ARX):c.774G>C (p.Ala258=)	ARX	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 2940078	NM_139058.3(ARX):c.169C>T (p.Arg57Cys)	ARX (R57C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
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 2939947	NM_139058.3(ARX):c.1202C>T (p.Pro401Leu)	ARX (P401L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1 +1 more	GUncertain significance
Select item 2939786	NM_139058.3(ARX):c.816C>T (p.Gly272=)	ARX	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 1 +1 more	GLikely benign
Select item 2939360	NM_139058.3(ARX):c.770G>A (p.Arg257His)	ARX (R257H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 2939320	NM_139058.3(ARX):c.1070C>A (p.Thr357Asn)	ARX (T357N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance

<< First< Prev

Page of 7