ClinVar for MedGen (Select 409616) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24281411.	NM_001110792.2(MECP2):c.273C>G (p.Ala91=) GRCh37: ChrX:153297798 GRCh38: ChrX:154032347	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 24252722.	NC_000023.10:g.(?_153296339)_(153306264_?)del GRCh37: ChrX:153296339-153306264	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 24252713.	NC_000023.10:g.(?_153296231)_(153303837_?)del GRCh37: ChrX:153296231-153303837	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 24252694.	NC_000023.10:g.(?_153296093)_(153303797_?)del GRCh37: ChrX:153296093-153303797	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Sep 8, 2022)	criteria provided, single submitter
Select item 24252685.	NC_000023.10:g.(?_153296091)_(153303781_?)del GRCh37: ChrX:153296091-153303781	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 24252676.	NC_000023.10:g.(?_153296084)_(153338974_?)del GRCh37: ChrX:153296084-153338974	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 24252667.	NC_000023.10:g.(?_153295412)_(153306710_?)del GRCh37: ChrX:153295412-153306710	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 24252658.	NC_000023.10:g.(?_153296086)_(153297264_?)del GRCh37: ChrX:153296086-153297264	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 24252649.	NC_000023.10:g.(?_153295250)_(153296129_?)del GRCh37: ChrX:153295250-153296129	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 242526310.	NC_000023.10:g.(?_153292923)_(153296117_?)del GRCh37: ChrX:153292923-153296117	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Mar 21, 2022)	criteria provided, single submitter
Select item 242526211.	NC_000023.10:g.(?_153285725)_(153296182_?)del GRCh37: ChrX:153285725-153296182	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 242526112.	NC_000023.10:g.(?_153279389)_(153296228_?)del GRCh37: ChrX:153279389-153296228	IRAK1, MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 242526013.	NC_000023.10:g.(?_153295818)_(153298028_?)dup GRCh37: ChrX:153295818-153298028	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 242525914.	NC_000023.10:g.(?_153195397)_(153642547_?)dup GRCh37: ChrX:153195397-153642547	IRAK1, TKTL1, RENBP, NAA10, TAFAZZIN, TMEM187, OPN1MW, OPN1LW, EMD, FLNA, TEX28, OPN1MW2, DNASE1L1, HCFC1, RPL10, MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 242525815.	NC_000023.10:g.(?_153292262)_(153297628_?)del GRCh37: ChrX:153292262-153297628	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Sep 5, 2022)	criteria provided, single submitter
Select item 242055716.	NM_001110792.2(MECP2):c.838C>A (p.Arg280=) GRCh37: ChrX:153296477 GRCh38: ChrX:154031026	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 219058517.	NM_001110792.2(MECP2):c.413+17C>T GRCh37: ChrX:153297641 GRCh38: ChrX:154032190	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 218929918.	NM_001110792.2(MECP2):c.654T>C (p.Gly218=) GRCh37: ChrX:153296661 GRCh38: ChrX:154031210	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 214452319.	NM_001110792.2(MECP2):c.795G>A (p.Arg265=) GRCh37: ChrX:153296520 GRCh38: ChrX:154031069	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 214093720.	NM_001110792.2(MECP2):c.1122C>A (p.Pro374=) GRCh37: ChrX:153296193 GRCh38: ChrX:154030742	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 213878521.	NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu) GRCh37: ChrX:153296681 GRCh38: ChrX:154031230	MECP2	K200E, K107E, K212E	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 213517522.	NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg) GRCh37: ChrX:153296806 GRCh38: ChrX:154031355	MECP2	T158R, T170R, T65R	Severe neonatal-onset encephalopathy with microcephaly	Likely pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 213291423.	NM_001110792.2(MECP2):c.139A>G (p.Lys47Glu) GRCh37: ChrX:153297932 GRCh38: ChrX:154032481	MECP2	K35E, K47E	Severe neonatal-onset encephalopathy with microcephaly	Benign (Sep 6, 2022)	criteria provided, single submitter
Select item 212810224.	NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs) GRCh37: ChrX:153296067-153296237 GRCh38: ChrX:154030616-154030786	MECP2	E125fs, E348fs, E360fs, E255fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 212418525.	NM_001110792.2(MECP2):c.414-5C>T GRCh37: ChrX:153296906 GRCh38: ChrX:154031455	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212368826.	NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del) GRCh37: ChrX:153296114-153296134 GRCh38: ChrX:154030663-154030683	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 212259527.	NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser) GRCh37: ChrX:153296072 GRCh38: ChrX:154030621	MECP2	P415S, P180S, P310S, P403S	Severe neonatal-onset encephalopathy with microcephaly, not provided	Conflicting interpretations of pathogenicity (Jul 28, 2023)	criteria provided, conflicting interpretations
Select item 211851828.	NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp) GRCh37: ChrX:153296567 GRCh38: ChrX:154031116	MECP2	G238W, G250W, G145W, G15W	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 211760129.	NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys) GRCh37: ChrX:153296726 GRCh38: ChrX:154031275	MECP2	G185C, G92C, G197C	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211484830.	NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn) GRCh37: ChrX:153296424 GRCh38: ChrX:154030973	MECP2	K192N, K62N, K285N, K297N	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 211433531.	NM_001110792.2(MECP2):c.414-8C>A GRCh37: ChrX:153296909 GRCh38: ChrX:154031458	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 211055332.	NM_001110792.2(MECP2):c.413+20A>G GRCh37: ChrX:153297638 GRCh38: ChrX:154032187	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 210778433.	NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg) GRCh37: ChrX:153296533 GRCh38: ChrX:154031082	MECP2	K156R, K26R, K249R, K261R	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 210603734.	NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del) GRCh37: ChrX:153297977-153297985 GRCh38: ChrX:154032526-154032534	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 210576335.	NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser) GRCh37: ChrX:153297857 GRCh38: ChrX:154032406	MECP2	G60S, G72S	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 209875436.	NM_001110792.2(MECP2):c.1192dup (p.Leu398fs) GRCh37: ChrX:153296122-153296123 GRCh38: ChrX:154030671-154030672	MECP2	L163fs, L386fs, L293fs, L398fs	Severe neonatal-onset encephalopathy with microcephaly, Developmental disorder	Pathogenic/Likely pathogenic (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209779837.	NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs) GRCh37: ChrX:153296040-153296119 GRCh38: ChrX:154030589-154030668	MECP2	P294fs, P387fs, P164fs, P399fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Feb 15, 2022)	criteria provided, single submitter
Select item 209685338.	NM_001110792.2(MECP2):c.369G>A (p.Arg123=) GRCh37: ChrX:153297702 GRCh38: ChrX:154032251	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209634339.	NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp) GRCh37: ChrX:153296419 GRCh38: ChrX:154030968	MECP2	A194D, A287D, A299D, A64D	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209565940.	NM_001110792.2(MECP2):c.842dup (p.Arg282fs) GRCh37: ChrX:153296472-153296473 GRCh38: ChrX:154031021-154031022	MECP2	R177fs, R270fs, R282fs, R47fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 209191241.	NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn) GRCh37: ChrX:153296286 GRCh38: ChrX:154030835	MECP2	K343N, K238N, K331N, K108N	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209181642.	NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly) GRCh37: ChrX:153295984 GRCh38: ChrX:154030533	MECP2	E339G, E444G, E209G, E432G	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 209081743.	NM_001110792.2(MECP2):c.62+8G>A GRCh37: ChrX:153363053 GRCh38: ChrX:154097596	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 208984444.	NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr) GRCh37: ChrX:153297935 GRCh38: ChrX:154032484	MECP2	D46Y, D34Y	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 208854245.	NM_001110792.2(MECP2):c.1254G>A (p.Gln418=) GRCh37: ChrX:153296061 GRCh38: ChrX:154030610	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 208213246.	NM_001110792.2(MECP2):c.1140C>G (p.His380Gln) GRCh37: ChrX:153296175 GRCh38: ChrX:154030724	MECP2	H145Q, H368Q, H380Q, H275Q	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 208198947.	NM_001110792.2(MECP2):c.696C>G (p.Leu232=) GRCh37: ChrX:153296619 GRCh38: ChrX:154031168	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 207986348.	NM_001110792.2(MECP2):c.969G>C (p.Thr323=) GRCh37: ChrX:153296346 GRCh38: ChrX:154030895	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 207763049.	NM_001110792.2(MECP2):c.1020C>G (p.Leu340=) GRCh37: ChrX:153296295 GRCh38: ChrX:154030844	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Benign (Jan 7, 2022)	criteria provided, single submitter
Select item 206373750.	NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs) GRCh37: ChrX:153296015-153296240 GRCh38: ChrX:154030564-154030789	MECP2	K359fs, K124fs, K254fs, K347fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Feb 16, 2022)	criteria provided, single submitter
Select item 206340151.	NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn) GRCh37: ChrX:153296215 GRCh38: ChrX:154030764	MECP2	S355N, S262N, S132N, S367N	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 206254452.	NM_001110792.2(MECP2):c.414-20C>T GRCh37: ChrX:153296921 GRCh38: ChrX:154031470	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 205281253.	NM_001110792.2(MECP2):c.15C>T (p.Ala5=) GRCh37: ChrX:153363108 GRCh38: ChrX:154097651	LOC130068854, MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 204398254.	NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs) GRCh37: ChrX:153296002-153296093 GRCh38: ChrX:154030551-154030642	MECP2	S408fs, S173fs, S303fs, S396fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 203538355.	NM_001110792.2(MECP2):c.6C>T (p.Ala2=) GRCh37: ChrX:153363117 GRCh38: ChrX:154097660	LOC130068854, MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 203485756.	NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs) GRCh37: ChrX:153296113-153296123 GRCh38: ChrX:154030662-154030672	MECP2	L386fs, L293fs, L398fs, L163fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 203461257.	NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs) GRCh37: ChrX:153296089-153296102 GRCh38: ChrX:154030638-154030651	MECP2	P393fs, P300fs, P170fs, P405fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 203244758.	NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg) GRCh37: ChrX:153363086 GRCh38: ChrX:154097629	MECP2	G13R	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 202958859.	NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr) GRCh37: ChrX:153296825 GRCh38: ChrX:154031374	MECP2	P164T, P59T, P152T	Severe neonatal-onset encephalopathy with microcephaly	Likely pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 202863360.	NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro) GRCh37: ChrX:153296888 GRCh38: ChrX:154031437	MECP2	A143P, A131P, A38P	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 202667961.	NM_001110792.2(MECP2):c.1199_1204delinsTCAGGTATAT (p.Pro400fs) GRCh37: ChrX:153296111-153296116 GRCh38: ChrX:154030660-154030665	MECP2	P388fs, P165fs, P400fs, P295fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 202635862.	NM_001110792.2(MECP2):c.1377A>C (p.Ala459=) GRCh37: ChrX:153295938 GRCh38: ChrX:154030487	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 202259863.	NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs) GRCh37: ChrX:153296116-153296824 GRCh38: ChrX:154030665-154031373	MECP2	P59fs, P152fs, P164fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 201973564.	NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn) GRCh37: ChrX:153296874 GRCh38: ChrX:154031423	MECP2	K42N, K135N, K147N	Severe neonatal-onset encephalopathy with microcephaly	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 201876565.	NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs) GRCh37: ChrX:153295742-153296048 GRCh38: ChrX:154030291-154030597	MECP2	V424fs, V189fs, V319fs, V412fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 201709066.	NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs) GRCh37: ChrX:153296526-153296527 GRCh38: ChrX:154031075-154031076	MECP2	G159fs, G252fs, G264fs, G29fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jul 24, 2022)	criteria provided, single submitter
Select item 201611767.	NM_001110792.2(MECP2):c.1392C>A (p.His464Gln) GRCh37: ChrX:153295923 GRCh38: ChrX:154030472	MECP2	H452Q, H464Q, H359Q, H229Q	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 201607968.	NM_001110792.2(MECP2):c.99C>T (p.Leu33=) GRCh37: ChrX:153297972 GRCh38: ChrX:154032521	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 201576669.	NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del) GRCh37: ChrX:153296071-153296073 GRCh38: ChrX:154030620-154030622	MECP2	P310del, P403del, P415del, P180del	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 201256070.	NM_001110792.2(MECP2):c.510G>T (p.Thr170=) GRCh37: ChrX:153296805 GRCh38: ChrX:154031354	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 200684071.	NM_001110792.2(MECP2):c.1136_1215del (p.His379fs) GRCh37: ChrX:153296100-153296179 GRCh38: ChrX:154030649-154030728	MECP2	H367fs, H274fs, H379fs, H144fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 200612672.	NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp) GRCh37: ChrX:153296235 GRCh38: ChrX:154030784	MECP2	E360D, E125D, E255D, E348D	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 200554873.	NM_001110792.2(MECP2):c.438T>C (p.Ser146=) GRCh37: ChrX:153296877 GRCh38: ChrX:154031426	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200339874.	NM_001110792.2(MECP2):c.561G>A (p.Lys187=) GRCh37: ChrX:153296754 GRCh38: ChrX:154031303	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 200196875.	NM_001110792.2(MECP2):c.1119C>A (p.Pro373=) GRCh37: ChrX:153296196 GRCh38: ChrX:154030745	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 200172476.	NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del) GRCh37: ChrX:153296084-153296182 GRCh38: ChrX:154030633-154030731	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199960077.	NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs) GRCh37: ChrX:153296082-153296152 GRCh38: ChrX:154030631-154030701	MECP2	P153fs, P283fs, P388fs, P376fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 199660178.	NM_001110792.2(MECP2):c.934G>C (p.Val312Leu) GRCh37: ChrX:153296381 GRCh38: ChrX:154030930	MECP2	V312L, V207L, V300L, V77L	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199533179.	NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs) GRCh37: ChrX:153296046-153296125 GRCh38: ChrX:154030595-154030674	MECP2	P162fs, P385fs, P292fs, P397fs	Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 197007480.	NM_001110792.2(MECP2):c.837A>G (p.Lys279=) GRCh37: ChrX:153296478 GRCh38: ChrX:154031027	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 195591981.	NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn) GRCh37: ChrX:153296148 GRCh38: ChrX:154030697	MECP2	K154N, K377N, K389N, K284N	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 195205082.	NM_001110792.2(MECP2):c.413+15C>G GRCh37: ChrX:153297643 GRCh38: ChrX:154032192	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Benign (Jul 17, 2022)	criteria provided, single submitter
Select item 192363183.	NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr) GRCh37: ChrX:153296684 GRCh38: ChrX:154031233	MECP2	P106T, P199T, P211T	not specified, Severe neonatal-onset encephalopathy with microcephaly	Conflicting interpretations of pathogenicity (Apr 17, 2023)	criteria provided, conflicting interpretations
Select item 191565784.	NM_001110792.2(MECP2):c.414-16C>T GRCh37: ChrX:153296917 GRCh38: ChrX:154031466	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 191465285.	NM_001110792.2(MECP2):c.62+18G>A GRCh37: ChrX:153363043 GRCh38: ChrX:154097586	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 190630886.	NM_001110792.2(MECP2):c.562C>G (p.Pro188Ala) GRCh37: ChrX:153296753 GRCh38: ChrX:154031302	MECP2	P83A, P176A, P188A	Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 189719587.	NM_001110792.2(MECP2):c.42A>C (p.Gly14=) GRCh37: ChrX:153363081 GRCh38: ChrX:154097624	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 189614388.	NM_001110792.2(MECP2):c.414-18_414-17insA GRCh37: ChrX:153296918-153296919 GRCh38: ChrX:154031467-154031468	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 172124889.	NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser) GRCh37: ChrX:153296735 GRCh38: ChrX:154031284	MECP2	P182S, P194S, P89S	X-linked intellectual disability-psychosis-macroorchidism syndrome, Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171879390.	NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly) GRCh37: ChrX:153296459 GRCh38: ChrX:154031008	MECP2	S181G, S274G, S286G, S51G	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 171643891.	NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe) GRCh37: ChrX:153297796 GRCh38: ChrX:154032345	MECP2	S80F, S92F	not provided, Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171489392.	NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala) GRCh37: ChrX:153296204 GRCh38: ChrX:154030753	MECP2	S136A, S266A, S359A, S371A	Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 168465593.	NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs) GRCh37: ChrX:153296068-153297734 GRCh38: ChrX:154030617-154032283	MECP2	M1fs, P101fs, P113fs, P8fs	Autism, susceptibility to, X-linked 3, Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome, Syndromic X-linked intellectual disability Lubs type	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 168330994.	NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) GRCh37: ChrX:153296198-153296199 GRCh38: ChrX:154030747-154030748	MECP2	P138T, P268T, P361T, P373T	Severe neonatal-onset encephalopathy with microcephaly, not specified	Conflicting interpretations of pathogenicity (Aug 3, 2022)	criteria provided, conflicting interpretations
Select item 167885695.	NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) GRCh37: ChrX:153296642 GRCh38: ChrX:154031191	MECP2	L120V, L213V, L225V	Severe neonatal-onset encephalopathy with microcephaly, not provided	Benign/Likely benign (Apr 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167072396.	NM_001110792.2(MECP2):c.1156G>C (p.Glu386Gln) GRCh37: ChrX:153296159 GRCh38: ChrX:154030708	MECP2	E151Q, E281Q, E374Q, E386Q	Inborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 167023697.	NM_001110792.2(MECP2):c.459C>T (p.Tyr153=) GRCh37: ChrX:153296856 GRCh38: ChrX:154031405	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Jan 8, 2021)	criteria provided, single submitter
Select item 166922898.	NM_001110792.2(MECP2):c.786C>G (p.Arg262=) GRCh37: ChrX:153296529 GRCh38: ChrX:154031078	MECP2		not specified, Severe neonatal-onset encephalopathy with microcephaly	Likely benign (Sep 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 166753399.	NM_001110792.2(MECP2):c.1452G>C (p.Glu484Asp) GRCh37: ChrX:153295863 GRCh38: ChrX:154030412	MECP2	E249D, E379D, E472D, E484D	Severe neonatal-onset encephalopathy with microcephaly	Benign (Feb 3, 2022)	criteria provided, single submitter
Select item 1665949100.	NM_001110792.2(MECP2):c.1240C>T (p.Pro414Ser) GRCh37: ChrX:153296075 GRCh38: ChrX:154030624	MECP2	P179S, P309S, P402S, P414S	Severe neonatal-onset encephalopathy with microcephaly	Benign (May 25, 2022)	criteria provided, single submitter

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