ClinVar for MedGen (Select 48441) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24442421.	NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer) GRCh37: ChrX:153296066-153296115 GRCh38: ChrX:154030615-154030664	MECP2		Rett syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24441162.	NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter) GRCh37: ChrX:153295913 GRCh38: ChrX:154030462	MECP2	G233, G363, G456, G468	Rett syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24423513.	NM_001110792.2(MECP2):c.932_936delinsGCCCGAGAG (p.Thr311fs) GRCh37: ChrX:153296379-153296383 GRCh38: ChrX:154030928-154030932	MECP2	T206fs, T299fs, T311fs, T76fs	Rett syndrome	Pathogenic (Nov 13, 2019)	criteria provided, single submitter
Select item 18785554.	NM_001375505.1(MAP2):c.4281A>C (p.Lys1427Asn) GRCh37: Chr2:210561366 GRCh38: Chr2:209696642	MAP2	K1269N, K1422N, K1423N, K1426N, K1427N, K1504N, K1505N, K1509N, K184N, K185N, K28N	Rett syndrome	Uncertain significance	criteria provided, single submitter
Select item 18785315.	NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu) GRCh37: ChrX:153296110 GRCh38: ChrX:154030659	MECP2	P167L, P297L, P390L, P402L	Rett syndrome	Uncertain significance	criteria provided, single submitter
Select item 17238886.	NM_001110792.2(MECP2):c.1195_1231delinsAG (p.Pro399fs) GRCh37: ChrX:153296084-153296120 GRCh38: ChrX:154030633-154030669	MECP2	P164fs, P294fs, P387fs, P399fs	Rett syndrome	Pathogenic (Nov 13, 2022)	criteria provided, single submitter
Select item 17238877.	NM_001110792.2(MECP2):c.1222_1231del (p.Ser408fs) GRCh37: ChrX:153296084-153296093 GRCh38: ChrX:154030633-154030642	MECP2	S173fs, S303fs, S396fs, S408fs	Rett syndrome	Pathogenic (Nov 13, 2022)	criteria provided, single submitter
Select item 17238868.	NM_001110792.2(MECP2):c.268dup (p.Ser90fs) GRCh37: ChrX:153297802-153297803 GRCh38: ChrX:154032351-154032352	MECP2	S78fs, S90fs	Rett syndrome	Pathogenic (Nov 13, 2022)	criteria provided, single submitter
Select item 17093849.	NM_001110792.2(MECP2):c.1143_1234del (p.His382fs) GRCh37: ChrX:153296081-153296172 GRCh38: ChrX:154030630-154030721	MECP2	H147fs, H277fs, H370fs, H382fs	Rett syndrome	Pathogenic (Jul 16, 2021)	criteria provided, single submitter
Select item 170355910.	GRCh37/hg19 Xq28(chrX:153296089-153296700) GRCh37: ChrX:153296089-153296700	MECP2		Rett syndrome	Pathogenic	no assertion criteria provided
Select item 169185911.	NM_001110792.2(MECP2):c.808_1334del (p.Glu270fs) GRCh37: ChrX:153295981-153296507 GRCh38: ChrX:154030530-154031056	MECP2	E165fs, E258fs, E270fs, E35fs	Rett syndrome	Pathogenic (Sep 5, 2022)	criteria provided, single submitter
Select item 168465512.	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 168330813.	NM_001110792.2(MECP2):c.254_260del (p.Ala85fs) GRCh37: ChrX:153297811-153297817 GRCh38: ChrX:154032360-154032366	MECP2	A73fs, A85fs	Rett syndrome	Likely pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 167939714.	NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg) GRCh37: ChrX:153296243 GRCh38: ChrX:154030792	MECP2	S123R, S253R, S346R, S358R	Rett syndrome	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167914715.	NM_001110792.2(MECP2):c.434G>C (p.Arg145Pro) GRCh37: ChrX:153296881 GRCh38: ChrX:154031430	MECP2	R133P, R145P, R40P	Rett syndrome	Pathogenic (Mar 7, 2022)	criteria provided, single submitter
Select item 167718616.	NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del GRCh37: ChrX:153296026-153357641	MECP2		Rett syndrome	Pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 142352517.	NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) GRCh37: ChrX:153296378 GRCh38: ChrX:154030927	MECP2	L208V, L301V, L78V, L313V	Inborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 133987118.	NM_001110792.2(MECP2):c.413+5G>A GRCh37: ChrX:153297653 GRCh38: ChrX:154032202	MECP2		Severe neonatal-onset encephalopathy with microcephaly	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 133897019.	NM_005249.5(FOXG1):c.512dup (p.Glu173fs) GRCh37: Chr14:29236996-29236997 GRCh38: Chr14:28767790-28767791	FOXG1	E173fs	Rett syndrome	Pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 132558120.	NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) GRCh37: ChrX:153296177 GRCh38: ChrX:154030726	MECP2	H145Y, H275Y, H368Y, H380Y	Rett syndrome	Uncertain significance (Apr 30, 2020)	criteria provided, single submitter
Select item 130865721.	NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs) GRCh37: ChrX:153295812-153296106 GRCh38: ChrX:154030361-154030655	MECP2	E169fs, E299fs, E392fs, E404fs	Rett syndrome	Pathogenic (Oct 28, 2021)	criteria provided, single submitter
Select item 130135422.	NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) GRCh37: ChrX:153296072-153296106 GRCh38: ChrX:154030621-154030655	MECP2		Rett syndrome, Inborn genetic diseases	Pathogenic/Likely pathogenic (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 109827323.	NM_001110792.2(MECP2):c.398A>T (p.Asp133Val) GRCh37: ChrX:153297673 GRCh38: ChrX:154032222	MECP2	D121V, D133V, D28V	Rett syndrome	Likely pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 102991624.	NM_001110792.2(MECP2):c.465A>G (p.Glu155=) GRCh37: ChrX:153296850 GRCh38: ChrX:154031399	MECP2		Rett syndrome	Uncertain significance (Jan 14, 2020)	criteria provided, single submitter
Select item 102991525.	NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) GRCh37: ChrX:153296169 GRCh38: ChrX:154030718	MECP2	H370Q, H382Q, H277Q, H147Q	Rett syndrome	Uncertain significance (Nov 15, 2019)	criteria provided, single submitter
Select item 102760526.	NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) GRCh37: ChrX:153296808 GRCh38: ChrX:154031357	MECP2	F157L, F169L, F64L	Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome	Pathogenic/Likely pathogenic (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99744527.	NM_001110792.2(MECP2):c.1153_1235del (p.Ser385fs) GRCh37: ChrX:153296080-153296162 GRCh38: ChrX:154030629-154030711	MECP2	S150fs, S280fs, S373fs, S385fs	Rett syndrome	Pathogenic (Dec 15, 2020)	no assertion criteria provided
Select item 99708228.	GRCh37/hg19 Xq28(chrX:152649825-152988014) GRCh37: ChrX:152649825-152988014	ATP2B3, BCAP31, BGN, CCNQ, DUSP9, HAUS7, LOC100509091, PNCK, PNMA6E, SLC6A8, TREX2, ZFP92		Rett syndrome	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 98197129.	NC_000023.10:g.(?_153287263)_(153363189_?)del GRCh37: ChrX:153287263-153363189	MECP2		Rett syndrome	Pathogenic (Aug 21, 2020)	criteria provided, single submitter
Select item 97638730.	NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs) GRCh37: ChrX:153297922-153297923 GRCh38: ChrX:154032471-154032472	MECP2	E38fs, E50fs	Intellectual disability, Rett syndrome	Pathogenic (Feb 22, 2021)	criteria provided, single submitter
Select item 97636631.	NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup) GRCh37: ChrX:153295955-153295956 GRCh38: ChrX:154030504-154030505	MECP2		Rett syndrome	Uncertain significance (Jun 14, 2018)	criteria provided, single submitter
Select item 97595632.	NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) GRCh37: ChrX:153295987 GRCh38: ChrX:154030536	MECP2	K338T, K431T, K443T	Rett syndrome	Uncertain significance (Jul 19, 2018)	criteria provided, single submitter
Select item 97485933.	NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs) GRCh37: ChrX:153297890-153297891 GRCh38: ChrX:154032439-154032440	MECP2	S49fs, S61fs	Rett syndrome	Likely pathogenic	criteria provided, single submitter
Select item 97461934.	NM_001110792.2(MECP2):c.1168_1169del (p.Ala390fs) GRCh37: ChrX:153296146-153296147 GRCh38: ChrX:154030695-154030696	MECP2	A285fs, A378fs, A390fs	Rett syndrome	Pathogenic (Jun 19, 2020)	criteria provided, single submitter
Select item 97456735.	NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) GRCh37: ChrX:153363121 GRCh38: ChrX:154097664	MECP2	M1T	Rett syndrome	Likely pathogenic (Jan 22, 2018)	criteria provided, single submitter
Select item 97456636.	NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs) GRCh37: ChrX:153296093-153296122 GRCh38: ChrX:154030642-154030671	MECP2	L293fs, L386fs, L398fs	Rett syndrome	Likely pathogenic (Aug 28, 2018)	criteria provided, single submitter
Select item 91602537.	NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG] GRCh37: ChrX:153296106-153296275	MECP2		Rett syndrome	Pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 85960338.	NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) GRCh37: ChrX:153297740 GRCh38: ChrX:154032289	MECP2	T111P, T6P, T99P	Rett syndrome	Uncertain significance (Mar 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 81750839.	NM_001110792.2(MECP2):c.331dup (p.Thr111fs) GRCh37: ChrX:153297739-153297740 GRCh38: ChrX:154032288-154032289	MECP2	T111fs, T99fs, T6fs	not provided	Pathogenic (Mar 18, 2019)	criteria provided, single submitter
Select item 81691440.	NM_001110792.2(MECP2):c.230C>T (p.Ser77Leu) GRCh37: ChrX:153297841 GRCh38: ChrX:154032390	MECP2	S77L, S65L	Rett syndrome	Pathogenic (Nov 8, 2018)	criteria provided, single submitter
Select item 81374541.	NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) GRCh37: ChrX:153296117 GRCh38: ChrX:154030666	MECP2	P388T, P295T, P400T, P165T	Rett syndrome	Uncertain significance (Apr 18, 2017)	criteria provided, single submitter
Select item 81373042.	NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa) GRCh37: ChrX:153293518-153296226 GRCh38: ChrX:154028067-154030775	MECP2		Rett syndrome	Pathogenic (Dec 14, 2015)	criteria provided, single submitter
Select item 80429043.	NM_001110792.2(MECP2):c.63-73_1087del GRCh37: ChrX:153296228-153298081 GRCh38: ChrX:154030777-154032630	MECP2		Rett syndrome	Pathogenic (Jan 18, 2018)	criteria provided, single submitter
Select item 80413144.	NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs) GRCh37: ChrX:153363065-153363066 GRCh38: ChrX:154097608-154097609	MECP2	R20fs	Rett syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80413045.	NM_001110792.2(MECP2):c.62+5469A>T GRCh37: ChrX:153357593 GRCh38: ChrX:154092135	MECP2		Rett syndrome	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 80412946.	NM_001110792.2(MECP2):c.62+5503del GRCh37: ChrX:153357559 GRCh38: ChrX:154092101	MECP2		Rett syndrome	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80412847.	NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs) GRCh37: ChrX:153297759-153297760 GRCh38: ChrX:154032308-154032309	MECP2	P105fs, P93fs	Rett syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80412748.	NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr) GRCh37: ChrX:153296813 GRCh38: ChrX:154031362	MECP2	D168Y, D156Y, D63Y	Rett syndrome	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80412649.	NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter) GRCh37: ChrX:153296774 GRCh38: ChrX:154031323	MECP2	E169, E181, E76*	Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome	Pathogenic (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80412550.	NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) GRCh37: ChrX:153296762 GRCh38: ChrX:154031311	MECP2	P173T, P185T, P80T	not provided, Rett syndrome	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 80412451.	NM_001110792.2(MECP2):c.785dup (p.Gly264fs) GRCh37: ChrX:153296529-153296530 GRCh38: ChrX:154031078-154031079	MECP2	G252fs, G159fs, G264fs, G29fs	Rett syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80412352.	NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs) GRCh37: ChrX:153296108-153296162 GRCh38: ChrX:154030657-154030711	MECP2	S385fs, S373fs, S280fs, S150fs	Rett syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 69996653.	NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) GRCh37: ChrX:153296022 GRCh38: ChrX:154030571	MECP2		Severe neonatal-onset encephalopathy with microcephaly, Syndromic X-linked intellectual disability Lubs type, X-linked intellectual disability-psychosis-macroorchidism syndrome, Autism, susceptibility to, X-linked 3, Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly	Benign/Likely benign (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63799454.	NM_001110792.2(MECP2):c.988dup (p.Glu330fs) GRCh37: ChrX:153296326-153296327 GRCh38: ChrX:154030875-154030876	MECP2	E318fs, E330fs, E225fs, E95fs	Rett syndrome	Pathogenic (Feb 4, 2019)	criteria provided, single submitter
Select item 63582655.	NM_001110792.2(MECP2):c.917_1208del (p.Arg306fs) GRCh37: ChrX:153296107-153296398 GRCh38: ChrX:154030656-154030947	MECP2	R201fs, R306fs, R294fs, R71fs	Rett syndrome	Pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 63582556.	NM_001110792.2(MECP2):c.95del (p.Gly32fs) GRCh37: ChrX:153297976 GRCh38: ChrX:154032525	MECP2	G20fs, G32fs	Rett syndrome	Pathogenic (Dec 5, 2017)	criteria provided, single submitter
Select item 63582457.	NM_001110792.2(MECP2):c.650_651del (p.Glu217fs) GRCh37: ChrX:153296664-153296665 GRCh38: ChrX:154031213-154031214	MECP2	E112fs, E217fs, E205fs	Rett syndrome	Pathogenic (Nov 19, 2018)	criteria provided, single submitter
Select item 63329758.	NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) GRCh37: ChrX:153296548-153296551 GRCh38: ChrX:154031097-154031100	MECP2	T150fs, T243fs, T255fs, T20fs	Rett syndrome	Likely pathogenic (Oct 9, 2018)	criteria provided, single submitter
Select item 62597959.	NM_001110792.2(MECP2):c.991G>A (p.Val331Met) GRCh37: ChrX:153296324 GRCh38: ChrX:154030873	MECP2	V319M, V331M, V226M, V96M	Severe neonatal-onset encephalopathy with microcephaly, Autism, susceptibility to, X-linked 3, X-linked intellectual disability-psychosis-macroorchidism syndrome, Syndromic X-linked intellectual disability Lubs type, Rett syndrome	Uncertain significance (Jan 30, 2018)	criteria provided, single submitter
Select item 58864360.	NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) GRCh37: ChrX:153363100-153363102 GRCh38: ChrX:154097643-154097645	MECP2	A8del	Inborn genetic diseases, Severe neonatal-onset encephalopathy with microcephaly, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome, Autism, susceptibility to, X-linked 3, Syndromic X-linked intellectual disability Lubs type, not provided, Severe neonatal-onset encephalopathy with microcephaly	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58445361.	NM_001110792.2(MECP2):c.737_1311del (p.Ala246fs) GRCh37: ChrX:153296004-153296578 GRCh38: ChrX:154030553-154031127	MECP2	A141fs, A234fs, A246fs, A11fs	Rett syndrome	Pathogenic (Nov 1, 2017)	criteria provided, single submitter
Select item 57088762.	NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) GRCh37: ChrX:153296254 GRCh38: ChrX:154030803	MECP2	P342R, P354R, P249R, P119R	Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56018763.	NM_004992.3(MECP2):c.[1155_1200del;987_988del] GRCh37: ChrX:153296079-153296124 ChrX:153296291-153296292 GRCh38: ChrX:154030628-154030673 ChrX:154030840-154030841	MECP2, MECP2	L293fs, L398fs, L163fs, K331fs, K238fs, K343fs, K108fs	not provided	Pathogenic (Apr 3, 2015)	no assertion criteria provided
Select item 55993464.	NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) GRCh37: ChrX:153296080-153296115 GRCh38: ChrX:154030629-154030664	MECP2	P401fs, P296fs, P389fs, P166fs	Rett syndrome	Likely pathogenic (Aug 9, 2017)	criteria provided, single submitter
Select item 54870665.	NM_001110792.2(MECP2):c.605G>A (p.Arg202His) GRCh37: ChrX:153296710 GRCh38: ChrX:154031259	MECP2	R190H, R202H, R97H	Rett syndrome	Likely pathogenic	criteria provided, single submitter
Select item 54812466.	NM_001110792.2(MECP2):c.1134C>T (p.His378=) GRCh37: ChrX:153296181 GRCh38: ChrX:154030730	MECP2		not provided, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome	Likely benign (Jun 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54803167.	NM_001110792.2(MECP2):c.1173dup (p.Val392fs) GRCh37: ChrX:153296141-153296142 GRCh38: ChrX:154030690-154030691	MECP2	V392fs, V287fs, V380fs, V157fs	not provided, Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54751668.	NM_001110792.2(MECP2):c.898G>A (p.Val300Met) GRCh37: ChrX:153296417 GRCh38: ChrX:154030966	MECP2	V288M, V300M, V195M, V65M	History of neurodevelopmental disorder, Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54751569.	NM_001110792.2(MECP2):c.890del (p.Lys297fs) GRCh37: ChrX:153296425 GRCh38: ChrX:154030974	MECP2	K192fs, K297fs, K285fs, K62fs	Rett syndrome	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 54751470.	NM_001110792.2(MECP2):c.876del (p.Ala293fs) GRCh37: ChrX:153296439 GRCh38: ChrX:154030988	MECP2	A188fs, A293fs, A281fs, A58fs	Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome	Pathogenic/Likely pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 52266571.	NM_001110792.2(MECP2):c.414-3C>T GRCh37: ChrX:153296904 GRCh38: ChrX:154031453	MECP2		Rett syndrome	Benign (Feb 18, 2022)	reviewed by expert panel FDA Recognized Database
Select item 50372972.	NM_001110792.2(MECP2):c.62+2T>G GRCh37: ChrX:153363059 GRCh38: ChrX:154097602	MECP2		Rett syndrome	Pathogenic (Mar 26, 2021)	reviewed by expert panel FDA Recognized Database
Select item 49628273.	NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) GRCh37: ChrX:153296563 GRCh38: ChrX:154031112	MECP2	A239D, A251D, A146D, A16D	not provided, Rett syndrome	Conflicting interpretations of pathogenicity (Mar 20, 2017)	criteria provided, conflicting interpretations
Select item 49526174.	NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) GRCh37: Chr8:22865223 GRCh38: Chr8:23007710	RHOBTB2	R511W, R489W, R496W	Inborn genetic diseases, Developmental and epileptic encephalopathy, 64, not provided, Rett syndrome	Conflicting interpretations of pathogenicity (Aug 28, 2021)	criteria provided, conflicting interpretations
Select item 49524775.	NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs) GRCh37: ChrX:153296191-153296192 GRCh38: ChrX:154030740-154030741	MECP2	K363fs, K270fs, K375fs, K140fs	Rett syndrome	Likely pathogenic (Jan 1, 2018)	criteria provided, single submitter
Select item 45161176.	NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) GRCh37: ChrX:153296115-153296116 GRCh38: ChrX:154030664-154030665	MECP2	P401fs, P296fs, P389fs, P166fs	Inborn genetic diseases, Rett syndrome, not provided	Pathogenic/Likely pathogenic (Feb 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44621177.	NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr) GRCh37: Chr9:101133817 GRCh38: Chr9:98371535	GABBR2	A567T	Neurodevelopmental disorder with poor language and loss of hand skills, not provided, Inborn genetic diseases, Rett syndrome, Epileptic encephalopathy	Pathogenic (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44483478.	NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) GRCh37: ChrX:153296828 GRCh38: ChrX:154031377	MECP2	D151Y, D163Y, D58Y	Rett syndrome, not provided	Likely pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 43584279.	NM_001110792.2(MECP2):c.251del (p.Pro84fs) GRCh37: ChrX:153297820 GRCh38: ChrX:154032369	MECP2	P72fs, P84fs	Rett syndrome	Pathogenic (Jan 15, 2016)	criteria provided, single submitter
Select item 43584180.	NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs) GRCh37: ChrX:153296113-153296213 GRCh38: ChrX:154030662-154030762	MECP2	S264fs, S369fs, S357fs, S134fs	Rett syndrome	Pathogenic (Apr 2, 2015)	criteria provided, single submitter
Select item 43170581.	NM_001110792.2(MECP2):c.377_385del (p.Gly126_Ser128del) GRCh37: ChrX:153297686-153297694 GRCh38: ChrX:154032235-154032243	MECP2		Rett syndrome	Pathogenic	criteria provided, single submitter
Select item 42989382.	NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) GRCh37: ChrX:153296070-153296071 GRCh38: ChrX:154030619-154030620	MECP2		Severe neonatal-onset encephalopathy with microcephaly, not provided, Rett syndrome, Autism, susceptibility to, X-linked 3	Pathogenic (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42488483.	NM_001110792.2(MECP2):c.786_810dup (p.Ala271delinsProArgGlnGluAlaLysSerTer) GRCh37: ChrX:153296504-153296505 GRCh38: ChrX:154031053-154031054	MECP2		Rett syndrome	Pathogenic (Oct 7, 2016)	no assertion criteria provided
Select item 42477384.	NM_173660.4(DOK7):c.[1263delC];[1263dupC]			Congenital myasthenic syndrome 10	Likely pathogenic (Nov 12, 2013)	criteria provided, single submitter
Select item 42457885.	NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) GRCh37: ChrX:153297782 GRCh38: ChrX:154032331	MECP2	R85C, R97C	Rett syndrome	Uncertain significance (Dec 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 41899886.	NM_001110792.2(MECP2):c.726del (p.Gly244fs) GRCh37: ChrX:153296589 GRCh38: ChrX:154031138	MECP2	G139fs, G244fs, G232fs, G9fs	not provided, Severe neonatal-onset encephalopathy with microcephaly	Pathogenic (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41736887.	NC_000023.10:g.(?_153287264)_(153363188_?)dup GRCh37: ChrX:153287264-153363188	MECP2		Angelman syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome	Pathogenic (Oct 27, 2016)	criteria provided, single submitter
Select item 40615488.	NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) GRCh37: ChrX:153296752 GRCh38: ChrX:154031301	MECP2	P188L, P176L, P83L	Severe neonatal-onset encephalopathy with microcephaly, Rett syndrome	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 39348989.	NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu) GRCh37: ChrX:153296811 GRCh38: ChrX:154031360	MECP2	D156E, D168E, D63E	Rett syndrome	Likely pathogenic (Jul 14, 2015)	criteria provided, single submitter
Select item 39348890.	NM_001110792.2(MECP2):c.1194_*261del (p.Pro399fs) GRCh37: ChrX:153295557-153296121 GRCh38: ChrX:154030106-154030670	MECP2	P294fs, P399fs, P387fs, P164fs	Rett syndrome	Pathogenic (Jul 14, 2015)	criteria provided, single submitter
Select item 39348791.	NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) GRCh37: ChrX:153296131 GRCh38: ChrX:154030680	MECP2	L383P, L395P, L290P, L160P	Rett syndrome	Uncertain significance (Jul 14, 2015)	criteria provided, single submitter
Select item 39348692.	NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del) GRCh37: ChrX:153296141-153296185 GRCh38: ChrX:154030690-154030734	MECP2		Rett syndrome	Likely pathogenic (Jul 10, 2015)	criteria provided, single submitter
Select item 39348593.	NM_001110792.2(MECP2):c.714del (p.Gln239fs) GRCh37: ChrX:153296601 GRCh38: ChrX:154031150	MECP2	Q227fs, Q134fs, Q239fs, Q4fs	Rett syndrome	Pathogenic (Jul 7, 2015)	criteria provided, single submitter
Select item 39348494.	NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) GRCh37: ChrX:153296071-153296124 GRCh38: ChrX:154030620-154030673	MECP2		Rett syndrome	Uncertain significance (Jun 30, 2015)	criteria provided, single submitter
Select item 39348395.	NM_001110792.2(MECP2):c.1060_1061insAG (p.Pro354fs) GRCh37: ChrX:153296254-153296255 GRCh38: ChrX:154030803-154030804	MECP2	P249fs, P342fs, P354fs, P119fs	Rett syndrome	Pathogenic (Jun 30, 2015)	criteria provided, single submitter
Select item 39348296.	NM_001110792.2(MECP2):c.1125_1165del (p.Lys376fs) GRCh37: ChrX:153296150-153296190 GRCh38: ChrX:154030699-154030739	MECP2	K271fs, K364fs, K376fs, K141fs	Rett syndrome	Pathogenic (Jun 30, 2015)	criteria provided, single submitter
Select item 37441497.	NM_001110792.2(MECP2):c.860_861del (p.Val287fs) GRCh37: ChrX:153296454-153296455 GRCh38: ChrX:154031003-154031004	MECP2	V275fs, V182fs, V287fs, V52fs	Rett syndrome	Pathogenic (Oct 11, 2016)	criteria provided, single submitter
Select item 37441398.	NM_001110792.2(MECP2):c.1270_1373del (p.Val424fs) GRCh37: ChrX:153295942-153296045 GRCh38: ChrX:154030491-154030594	MECP2	V412fs, V319fs, V424fs, V189fs	Rett syndrome	Pathogenic (Nov 17, 2016)	criteria provided, single submitter
Select item 37435399.	NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) GRCh37: ChrX:153297703 GRCh38: ChrX:154032252	MECP2	R111K, R123K, R18K	X-linked intellectual disability-psychosis-macroorchidism syndrome, not provided	Likely pathogenic (Nov 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 236303100.	NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) GRCh37: ChrX:153296601 GRCh38: ChrX:154031150	MECP2	F226L, F238L, F133L, F3L	Rett syndrome	Uncertain significance (Jul 30, 2015)	criteria provided, single submitter

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