Frmpd4 Variant Search Result - Rat Genome Database

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414 records found for search term Frmpd4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8642530	CV101514	single nucleotide variant	NM_014728.3(FRMPD4):c.42-10T>C	not provided [RCV000081649]	other\|not provided	X	12498670	12498670	Human		name
155644180	CV1706970	single nucleotide variant	NM_001368397.1(FRMPD4):c.41+3A>G	not provided [RCV002290925]	uncertain significance	X	12139015	12139015	Human		name
13216101	CV430644	single nucleotide variant	NM_001368397.1(FRMPD4):c.42-9C>A	FRMPD4-related disorder [RCV003962381]\|not specified [RCV000503328]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	12498671	12498671	Human	1	name , trait , alternate_id
8642531	CV101515	deletion	NM_001368397.1(FRMPD4):c.42-10del	not specified [RCV000081650]	benign	X	12498659	12498659	Human		name
126729221	CV1018899	single nucleotide variant	NM_001368397.1(FRMPD4):c.422+9C>T	Intellectual disability, X-linked 104 [RCV001333089]	uncertain significance	X	12614890	12614890	Human	1	name
155266533	CV1699102	single nucleotide variant	NM_001368397.1(FRMPD4):c.933+3A>T	not specified [RCV002282897]	uncertain significance	X	12694457	12694457	Human		name
155798932	CV1859343	single nucleotide variant	NM_001368397.1(FRMPD4):c.423-2A>C	Intellectual disability, X-linked 104 [RCV002464972]	pathogenic\|uncertain significance	X	12674861	12674861	Human	1	name
10048173	CV192458	duplication	NM_001368397.1(FRMPD4):c.42-10dup	not specified [RCV000175860]	benign	X	12498658	12498659	Human		name
401905027	CV2823871	single nucleotide variant	NM_001368395.3(FRMPD4):c.152+7A>G	not provided [RCV003440989]	likely benign	X	11878025	11878025	Human		name
28910889	CV860779	single nucleotide variant	NM_001368397.1(FRMPD4):c.933+1G>A	not provided [RCV001093291]	pathogenic\|likely pathogenic	X	12694455	12694455	Human		name
8587124	CV121751	single nucleotide variant	NM_014728.3(FRMPD4):c.41+133707C>G	Lung cancer [RCV000102271]	uncertain significance	X	12272719	12272719	Human		name
151355922	CV1327105	single nucleotide variant	NM_001368397.1(FRMPD4):c.3964+5A>G	not specified [RCV001822275]	uncertain significance	X	12718795	12718795	Human		name
8659617	CV134560	single nucleotide variant	NM_001368397.1(FRMPD4):c.1470+9C>T	not provided [RCV004713282]\|not specified [RCV000117099]	benign\|likely benign	X	12707660	12707660	Human		name
153305544	CV1687712	single nucleotide variant	NM_001368397.1(FRMPD4):c.1070+5G>C	not provided [RCV002263533]	uncertain significance	X	12702015	12702015	Human		name
10403382	CV208859	single nucleotide variant	NM_001368397.1(FRMPD4):c.1070+7G>A	not specified [RCV000192388]	uncertain significance	X	12702017	12702017	Human		name
243049921	CV2419488	single nucleotide variant	NM_001368397.1(FRMPD4):c.2675-9G>A	not provided [RCV003156420]	uncertain significance	X	12717492	12717492	Human		name
405291368	CV3222356	single nucleotide variant	NM_001368397.1(FRMPD4):c.1071-1G>A	Intellectual disability, X-linked 104 [RCV003985238]	likely pathogenic	X	12704358	12704358	Human	1	name
15143469	CV760955	single nucleotide variant	NM_001368397.1(FRMPD4):c.3964+7C>A	not provided [RCV000922196]	likely benign	X	12718797	12718797	Human		name
8642528	CV101512	single nucleotide variant	NM_001368397.1(FRMPD4):c.1197+12C>G	Intellectual disability, X-linked 104 [RCV001701740]\|not provided [RCV004713252]\|not specified [RCV000081647]	benign	X	12704497	12704497	Human	1	name
329353572	CV2477097	single nucleotide variant	NM_001368397.1(FRMPD4):c.42-3728C>T	not provided [RCV003223329]	likely benign	X	12494952	12494952	Human		name
401860423	CV2794504	single nucleotide variant	NM_001368397.1(FRMPD4):c.681+504C>A	not provided [RCV003387672]	uncertain significance	X	12686708	12686708	Human		name
12896653	CV390384	deletion	NM_001368397.1(FRMPD4):c.1287+26del	not specified [RCV000455641]	benign	X	12706924	12706924	Human		name
153349797	CV1693981	indel	NM_001368397.1(FRMPD4):c.561_573+2delinsA	not provided [RCV002276217]	likely pathogenic	X	12683575	12683589	Human		name
15194377	CV758264	single nucleotide variant	NM_001368397.1(FRMPD4):c.78G>A (p.Ser26=)	not provided [RCV000911108]	benign	X	12498716	12498716	Human		name
151355291	CV1328358	single nucleotide variant	NM_001368397.1(FRMPD4):c.222G>A (p.Pro74=)	not provided [RCV004704658]\|not specified [RCV001820363]	likely benign	X	12609784	12609784	Human		name
405265840	CV3215685	single nucleotide variant	NM_001368397.1(FRMPD4):c.249G>A (p.Arg83=)	FRMPD4-related disorder [RCV003946859]	likely benign	X	12609811	12609811	Human		name , trait , alternate_id
15145110	CV758265	single nucleotide variant	NM_001368397.1(FRMPD4):c.255C>T (p.Pro85=)	not provided [RCV000922485]	likely benign	X	12609817	12609817	Human		name
8637739	CV92965	single nucleotide variant	NM_014728.3(FRMPD4):c.3948G>A (p.Lys1316=)	Malignant melanoma [RCV000073063]	not provided	X	12718774	12718774	Human		name
150336850	CV1166418	single nucleotide variant	NM_001368397.1(FRMPD4):c.933G>A (p.Gln311=)	not provided [RCV001532191]	uncertain significance	X	12694454	12694454	Human		name
243064721	CV2410240	single nucleotide variant	NM_001368397.1(FRMPD4):c.630G>A (p.Leu210=)	Intellectual disability, X-linked 104 [RCV003143423]	uncertain significance	X	12686153	12686153	Human	1	name
401720278	CV2737210	single nucleotide variant	NM_001368397.1(FRMPD4):c.474C>A (p.Pro158=)	not provided [RCV003314149]	uncertain significance	X	12683488	12683488	Human		name
401871415	CV2749541	single nucleotide variant	NM_001368397.1(FRMPD4):c.62G>A (p.Gly21Asp)	not provided [RCV003332669]	uncertain significance	X	12498700	12498700	Human		name
401925039	CV2805204	single nucleotide variant	NM_001368397.1(FRMPD4):c.867C>T (p.Phe289=)	not specified [RCV003405025]	likely benign	X	12694388	12694388	Human		name
401931021	CV2823874	single nucleotide variant	NM_001368397.1(FRMPD4):c.405G>C (p.Arg135=)	not provided [RCV003440992]	likely benign	X	12614864	12614864	Human		name
405270242	CV3187135	single nucleotide variant	NM_001368395.3(FRMPD4):c.98C>T (p.Ser33Phe)	not provided [RCV003887219]	uncertain significance	X	11877964	11877964	Human		name
407495899	CV3443067	single nucleotide variant	NM_001368397.1(FRMPD4):c.50C>T (p.Thr17Met)	Inborn genetic diseases [RCV004621559]	likely benign	X	12498688	12498688	Human	1	name
407464594	CV3443071	single nucleotide variant	NM_001368397.1(FRMPD4):c.77C>T (p.Ser26Leu)	Inborn genetic diseases [RCV004621563]\|not provided [RCV004697352]	likely benign\|uncertain significance	X	12498715	12498715	Human	1	name
408385517	CV3528546	single nucleotide variant	NM_001368397.1(FRMPD4):c.47G>T (p.Arg16Met)	not provided [RCV004772378]	uncertain significance	X	12498685	12498685	Human		name
597682553	CV3677256	single nucleotide variant	NM_001368397.1(FRMPD4):c.50C>G (p.Thr17Arg)	Inborn genetic diseases [RCV004983589]	uncertain significance	X	12498688	12498688	Human	1	name
617153564	CV4022013	single nucleotide variant	NM_001368395.3(FRMPD4):c.88C>A (p.Gln30Lys)	not provided [RCV005426974]	uncertain significance	X	11877954	11877954	Human		name
13703647	CV538287	single nucleotide variant	NM_001368397.1(FRMPD4):c.981T>C (p.Tyr327=)	Autism, susceptibility to, X-linked 4 [RCV000659680]	likely benign	X	12701921	12701921	Human	1	name
15187619	CV729392	single nucleotide variant	NM_001368397.1(FRMPD4):c.741C>G (p.Leu247=)	FRMPD4-related disorder [RCV003910504]\|Intellectual disability, X-linked 104 [RCV002501430]\|not provided [RCV000887304]	benign\|likely benign	X	12690254	12690254	Human	1	name , trait , alternate_id
15152134	CV743133	single nucleotide variant	NM_001368397.1(FRMPD4):c.528C>G (p.Val176=)	not provided [RCV000901503]	likely benign	X	12683542	12683542	Human		name
15195690	CV778646	duplication	NM_001368397.1(FRMPD4):c.1287+13_1287+26dup	not provided [RCV000955994]	benign	X	12706923	12706924	Human		name
15169556	CV780180	duplication	NM_001368397.1(FRMPD4):c.1287+15_1287+26dup	not provided [RCV000971835]	likely benign	X	12706923	12706924	Human		name
150336851	CV1166419	single nucleotide variant	NM_001368397.1(FRMPD4):c.1425G>A (p.Glu475=)	not provided [RCV001532192]	likely benign	X	12707606	12707606	Human		name
150532279	CV1294797	single nucleotide variant	NM_001368397.1(FRMPD4):c.194G>A (p.Arg65Gln)	not provided [RCV001752289]	uncertain significance	X	12609756	12609756	Human		name
150543827	CV1295758	single nucleotide variant	NM_001368397.1(FRMPD4):c.193C>T (p.Arg65Trp)	not provided [RCV001770988]	uncertain significance	X	12609755	12609755	Human		name
150542166	CV1303283	single nucleotide variant	NM_001368397.1(FRMPD4):c.200A>G (p.Glu67Gly)	not provided [RCV001768973]	uncertain significance	X	12609762	12609762	Human		name
151355963	CV1327146	single nucleotide variant	NM_001368397.1(FRMPD4):c.1218G>A (p.Lys406=)	FRMPD4-related disorder [RCV003941148]\|not provided [RCV002074267]\|not specified [RCV001822316]	benign\|likely benign	X	12706846	12706846	Human	1	name , trait , alternate_id
151353694	CV1327246	single nucleotide variant	NM_001368397.1(FRMPD4):c.2256C>T (p.Asp752=)	not provided [RCV004714356]\|not specified [RCV001817190]	benign	X	12716715	12716715	Human		name
8659616	CV134559	single nucleotide variant	NM_001368397.1(FRMPD4):c.1401C>G (p.Val467=)	not provided [RCV001541731]\|not specified [RCV000117098]	benign\|likely benign	X	12707582	12707582	Human		name
8659618	CV134561	single nucleotide variant	NM_001368397.1(FRMPD4):c.2007T>C (p.Leu669=)	not provided [RCV001682810]\|not specified [RCV000117100]	benign\|likely benign	X	12716466	12716466	Human		name
155642980	CV1707621	deletion	NM_001368397.1(FRMPD4):c.561del (p.Asn187fs)	Intellectual disability, X-linked 104 [RCV002289082]	likely pathogenic	X	12683575	12683575	Human	1	name
155796814	CV1859151	single nucleotide variant	NM_001368397.1(FRMPD4):c.278C>A (p.Ala93Glu)	not provided [RCV002464779]	uncertain significance	X	12609840	12609840	Human		name
10050368	CV191819	single nucleotide variant	NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=)	not provided [RCV000175079]	conflicting interpretations of pathogenicity\|uncertain significance	X	12717655	12717655	Human		name
10406939	CV208861	single nucleotide variant	NM_001368397.1(FRMPD4):c.2154C>T (p.Asn718=)	not specified [RCV000194792]	uncertain significance	X	12716613	12716613	Human		name
156123468	CV2227253	single nucleotide variant	NM_001368397.1(FRMPD4):c.187G>A (p.Asp63Asn)	Inborn genetic diseases [RCV002707995]	uncertain significance	X	12609749	12609749	Human	1	name
401764017	CV2725402	single nucleotide variant	NM_001368397.1(FRMPD4):c.256G>A (p.Val86Met)	Inborn genetic diseases [RCV003258413]	uncertain significance	X	12609818	12609818	Human	1	name
401931019	CV2823872	single nucleotide variant	NM_001368397.1(FRMPD4):c.125C>T (p.Thr42Met)	FRMPD4-related disorder [RCV003946620]\|Inborn genetic diseases [RCV004978870]\|not provided [RCV003440990]	likely benign	X	12498763	12498763	Human	2	name , trait , alternate_id
401931024	CV2823876	single nucleotide variant	NM_001368397.1(FRMPD4):c.1068C>T (p.Ile356=)	not provided [RCV003440994]	likely benign	X	12702008	12702008	Human		name
401931025	CV2823877	single nucleotide variant	NM_001368397.1(FRMPD4):c.1479G>A (p.Thr493=)	not provided [RCV003440995]	likely benign	X	12710407	12710407	Human		name
401931027	CV2823879	single nucleotide variant	NM_001368397.1(FRMPD4):c.2712G>A (p.Ser904=)	not provided [RCV003440997]	likely benign	X	12717538	12717538	Human		name
401944919	CV2840733	single nucleotide variant	NM_001368397.1(FRMPD4):c.1596G>A (p.Ala532=)	not provided [RCV003457586]	likely benign	X	12710524	12710524	Human		name
405285960	CV3191983	single nucleotide variant	NM_001368397.1(FRMPD4):c.2280C>T (p.Leu760=)	FRMPD4-related disorder [RCV003923916]	likely benign	X	12716739	12716739	Human		name , trait , alternate_id
405260669	CV3204269	single nucleotide variant	NM_001368397.1(FRMPD4):c.2820C>T (p.His940=)	FRMPD4-related disorder [RCV003944113]	likely benign	X	12717646	12717646	Human		name , trait , alternate_id
405292914	CV3207020	single nucleotide variant	NM_001368397.1(FRMPD4):c.1452C>G (p.Leu484=)	FRMPD4-related disorder [RCV003931437]	likely benign	X	12707633	12707633	Human		name , trait , alternate_id
405265797	CV3215712	single nucleotide variant	NM_001368397.1(FRMPD4):c.1896C>A (p.Thr632=)	FRMPD4-related disorder [RCV003946882]	likely benign	X	12716355	12716355	Human		name , trait , alternate_id
405278101	CV3216450	single nucleotide variant	NM_001368397.1(FRMPD4):c.1926A>G (p.Ala642=)	FRMPD4-related disorder [RCV003954386]	likely benign	X	12716385	12716385	Human		name , trait , alternate_id
405764700	CV3261102	single nucleotide variant	NM_001368397.1(FRMPD4):c.134G>A (p.Arg45Gln)	Inborn genetic diseases [RCV004394870]	uncertain significance	X	12498772	12498772	Human	1	name
405764718	CV3261105	single nucleotide variant	NM_001368397.1(FRMPD4):c.171G>C (p.Gln57His)	Inborn genetic diseases [RCV004394873]	uncertain significance	X	12609733	12609733	Human	1	name
407495904	CV3443066	single nucleotide variant	NM_001368397.1(FRMPD4):c.221C>T (p.Pro74Leu)	Inborn genetic diseases [RCV004621558]	likely benign	X	12609783	12609783	Human	1	name
407495885	CV3443072	single nucleotide variant	NM_001368397.1(FRMPD4):c.163A>G (p.Met55Val)	Inborn genetic diseases [RCV004621564]	uncertain significance	X	12609725	12609725	Human	1	name
407573434	CV3499214	single nucleotide variant	NM_001368397.1(FRMPD4):c.2020C>T (p.Leu674=)	not specified [RCV004701107]	likely benign	X	12716479	12716479	Human		name
408378879	CV3500977	single nucleotide variant	NM_001368397.1(FRMPD4):c.1026C>T (p.Thr342=)	not provided [RCV004722627]	likely benign	X	12701966	12701966	Human		name
408378580	CV3513464	single nucleotide variant	NM_001368397.1(FRMPD4):c.2184G>A (p.Ala728=)	FRMPD4-related disorder [RCV004752283]	likely benign	X	12716643	12716643	Human		name , trait , alternate_id
408391458	CV3523202	single nucleotide variant	NM_001368397.1(FRMPD4):c.1188G>A (p.Pro396=)	not provided [RCV004770574]	uncertain significance	X	12704476	12704476	Human		name
408383069	CV3525726	single nucleotide variant	NM_001368397.1(FRMPD4):c.2964G>A (p.Gln988=)	not specified [RCV004766636]	likely benign	X	12717790	12717790	Human		name
596920437	CV3534645	single nucleotide variant	NM_001368397.1(FRMPD4):c.1485G>A (p.Leu495=)	not specified [RCV004782206]	likely benign	X	12710413	12710413	Human		name
596942117	CV3543985	single nucleotide variant	NM_001368397.1(FRMPD4):c.2022A>G (p.Leu674=)	not provided [RCV005412692]\|not specified [RCV004799975]	likely benign	X	12716481	12716481	Human		name
598223734	CV3894042	single nucleotide variant	NM_001368397.1(FRMPD4):c.1902A>C (p.Ser634=)	not provided [RCV005257285]	likely benign	X	12716361	12716361	Human		name
617154570	CV4022313	single nucleotide variant	NM_001368397.1(FRMPD4):c.190C>T (p.Pro64Ser)	not provided [RCV005429669]	uncertain significance	X	12609752	12609752	Human		name
15136847	CV717632	single nucleotide variant	NM_001368397.1(FRMPD4):c.1821C>T (p.Asn607=)	not provided [RCV000965517]	benign	X	12716280	12716280	Human		name
15167979	CV743135	single nucleotide variant	NM_001368397.1(FRMPD4):c.1398C>T (p.His466=)	FRMPD4-related disorder [RCV003912927]\|not provided [RCV000904759]	likely benign	X	12707579	12707579	Human	1	name , trait , alternate_id
15103688	CV758266	single nucleotide variant	NM_001368397.1(FRMPD4):c.1224T>C (p.His408=)	Intellectual disability, X-linked 104 [RCV002502762]\|not provided [RCV000915212]\|not specified [RCV001818860]	benign\|likely benign	X	12706852	12706852	Human	1	name
15155327	CV758267	single nucleotide variant	NM_001368397.1(FRMPD4):c.1728G>A (p.Lys576=)	not provided [RCV000924442]	benign	X	12716187	12716187	Human		name
15198841	CV758269	single nucleotide variant	NM_001368397.1(FRMPD4):c.2160C>T (p.Gly720=)	not provided [RCV000912371]	benign	X	12716619	12716619	Human		name
15136881	CV758270	single nucleotide variant	NM_001368397.1(FRMPD4):c.2346C>T (p.Asp782=)	not provided [RCV000921080]	benign	X	12716805	12716805	Human		name
15122061	CV758271	single nucleotide variant	NM_001368397.1(FRMPD4):c.2604C>T (p.Ala868=)	not provided [RCV000918587]	benign	X	12717063	12717063	Human		name
15134488	CV758272	single nucleotide variant	NM_001368397.1(FRMPD4):c.2841A>G (p.Ala947=)	not provided [RCV000920695]	benign	X	12717667	12717667	Human		name
15156916	CV758273	single nucleotide variant	NM_001368397.1(FRMPD4):c.2859C>T (p.Phe953=)	not provided [RCV000924759]	likely benign	X	12717685	12717685	Human		name
15111796	CV758274	single nucleotide variant	NM_001368397.1(FRMPD4):c.2868C>T (p.Ser956=)	not provided [RCV000916796]	likely benign	X	12717694	12717694	Human		name
15098877	CV758275	single nucleotide variant	NM_001368397.1(FRMPD4):c.2907C>T (p.His969=)	not provided [RCV000914349]	likely benign	X	12717733	12717733	Human		name
15133491	CV773739	single nucleotide variant	NM_001368397.1(FRMPD4):c.2640C>T (p.Ser880=)	not provided [RCV000942576]	benign	X	12717099	12717099	Human		name
15176711	CV773740	single nucleotide variant	NM_001368397.1(FRMPD4):c.2760T>C (p.Ser920=)	not provided [RCV000928980]	benign	X	12717586	12717586	Human		name
15182248	CV773741	single nucleotide variant	NM_001368397.1(FRMPD4):c.2775A>T (p.Ala925=)	not provided [RCV000930318]	likely benign	X	12717601	12717601	Human		name
15188402	CV773742	single nucleotide variant	NM_001368397.1(FRMPD4):c.2892T>C (p.Pro964=)	not provided [RCV000931939]	likely benign	X	12717718	12717718	Human		name
38465546	CV920509	single nucleotide variant	NM_001368397.1(FRMPD4):c.182T>A (p.Phe61Tyr)	not specified [RCV001199913]	uncertain significance	X	12609744	12609744	Human		name
40887153	CV974292	single nucleotide variant	NM_001368397.1(FRMPD4):c.213C>G (p.Ile71Met)	Inborn genetic diseases [RCV001266599]	uncertain significance	X	12609775	12609775	Human	1	name
40888090	CV974293	single nucleotide variant	NM_001368397.1(FRMPD4):c.230G>A (p.Arg77Gln)	Inborn genetic diseases [RCV001267633]	uncertain significance	X	12609792	12609792	Human	1	name
40887171	CV974294	single nucleotide variant	NM_001368397.1(FRMPD4):c.238G>A (p.Glu80Lys)	Inborn genetic diseases [RCV001266624]	uncertain significance	X	12609800	12609800	Human	1	name
8642529	CV101513	single nucleotide variant	NM_001368397.1(FRMPD4):c.3765C>T (p.Gly1255=)	not provided [RCV000967597]\|not specified [RCV000081648]	benign	X	12718591	12718591	Human		name
126735131	CV1022136	single nucleotide variant	NM_001368397.1(FRMPD4):c.3312A>G (p.Lys1104=)	Intellectual disability, X-linked 104 [RCV001334785]	uncertain significance	X	12718138	12718138	Human	1	name
150410188	CV1178669	single nucleotide variant	NM_001368397.1(FRMPD4):c.928G>A (p.Val310Ile)	not provided [RCV001546511]	likely benign	X	12694449	12694449	Human		name
150520456	CV1289668	single nucleotide variant	NM_001368397.1(FRMPD4):c.476A>G (p.Lys159Arg)	Intellectual disability, X-linked 104 [RCV001730087]	uncertain significance	X	12683490	12683490	Human	1	name
151232814	CV1317379	single nucleotide variant	NM_001368397.1(FRMPD4):c.857G>A (p.Arg286Gln)	Intellectual disability, X-linked 104 [RCV001787302]	uncertain significance	X	12694378	12694378	Human	1	name
152980609	CV1678805	single nucleotide variant	NM_001368397.1(FRMPD4):c.959G>A (p.Arg320Gln)	not provided [RCV002247200]	uncertain significance	X	12701899	12701899	Human		name
153305539	CV1687711	single nucleotide variant	NM_001368397.1(FRMPD4):c.916G>A (p.Glu306Lys)	not provided [RCV002263532]	uncertain significance	X	12694437	12694437	Human		name
9692949	CV177728	single nucleotide variant	NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=)	Autism, susceptibility to, X-linked 4 [RCV000659681]\|not provided [RCV000723906]\|not specified [RCV000153276]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	12718763	12718763	Human	1	name
155803884	CV1858451	single nucleotide variant	NM_001368397.1(FRMPD4):c.437C>G (p.Ser146Trp)	not provided [RCV002462761]	uncertain significance	X	12674877	12674877	Human		name
10050367	CV191818	single nucleotide variant	NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=)	not provided [RCV000175078]	conflicting interpretations of pathogenicity\|uncertain significance	X	12718564	12718564	Human		name
156212067	CV2080026	single nucleotide variant	NM_001368397.1(FRMPD4):c.449C>A (p.Thr150Asn)	not provided [RCV002875521]	uncertain significance	X	12674889	12674889	Human		name
155966065	CV2080757	single nucleotide variant	NM_001368397.1(FRMPD4):c.305G>A (p.Arg102His)	not provided [RCV002863087]	uncertain significance	X	12609867	12609867	Human		name
10403585	CV208858	single nucleotide variant	NM_001368397.1(FRMPD4):c.388G>A (p.Ala130Thr)	not provided [RCV000958468]\|not specified [RCV000192896]	benign\|likely benign	X	12614847	12614847	Human		name
10404277	CV208864	single nucleotide variant	NM_001368397.1(FRMPD4):c.3261C>T (p.Arg1087=)	not specified [RCV000194682]	uncertain significance	X	12718087	12718087	Human		name
156172579	CV2247525	single nucleotide variant	NM_001368397.1(FRMPD4):c.437C>T (p.Ser146Leu)	FRMPD4-related disorder [RCV004750846]\|Inborn genetic diseases [RCV002788142]	uncertain significance	X	12674877	12674877	Human	2	name , trait , alternate_id
156111784	CV2387847	single nucleotide variant	NM_001368397.1(FRMPD4):c.583A>G (p.Lys195Glu)	Inborn genetic diseases [RCV002739762]	uncertain significance	X	12686106	12686106	Human	1	name
243063807	CV2405323	single nucleotide variant	NM_001368397.1(FRMPD4):c.952C>A (p.Gln318Lys)	Coffin-Siris syndrome 6 [RCV003142402]	uncertain significance	X	12701892	12701892	Human		name
243049806	CV2417174	single nucleotide variant	NM_001368397.1(FRMPD4):c.967C>A (p.Pro323Thr)	not provided [RCV003152045]	uncertain significance	X	12701907	12701907	Human		name
329351070	CV2477899	deletion	NM_001368397.1(FRMPD4):c.2776del (p.Gln926fs)	not provided [RCV003224012]	pathogenic	X	12717602	12717602	Human		name
11542320	CV249258	deletion	NM_001368397.1(FRMPD4):c.1851del (p.Cys618fs)	Intellectual disability, X-linked 104 [RCV000247605]	pathogenic	X	12716306	12716306	Human	1	name
401727398	CV2736307	single nucleotide variant	NM_001368397.1(FRMPD4):c.4794C>T (p.Ser1598=)	not provided [RCV003312755]	likely benign	X	12721363	12721363	Human		name
401931720	CV2801625	single nucleotide variant	NM_001368397.1(FRMPD4):c.424A>G (p.Ser142Gly)	FRMPD4-related disorder [RCV003391568]	uncertain significance	X	12674864	12674864	Human		name , trait , alternate_id
401931020	CV2823873	single nucleotide variant	NM_001368397.1(FRMPD4):c.380C>T (p.Pro127Leu)	not provided [RCV003440991]	uncertain significance	X	12614839	12614839	Human		name
401931022	CV2823875	single nucleotide variant	NM_001368397.1(FRMPD4):c.985A>G (p.Ile329Val)	not provided [RCV003440993]	uncertain significance	X	12701925	12701925	Human		name
401931032	CV2823883	single nucleotide variant	NM_001368397.1(FRMPD4):c.3558T>C (p.Ser1186=)	not provided [RCV003441001]	likely benign	X	12718384	12718384	Human		name
401931034	CV2823885	single nucleotide variant	NM_001368397.1(FRMPD4):c.4080A>G (p.Pro1360=)	not provided [RCV003441003]	likely benign	X	12720649	12720649	Human		name
401931035	CV2823886	single nucleotide variant	NM_001368397.1(FRMPD4):c.4590C>T (p.Cys1530=)	not provided [RCV003441004]	likely benign	X	12721159	12721159	Human		name
401914200	CV2830620	single nucleotide variant	NM_001368397.1(FRMPD4):c.403C>T (p.Arg135Trp)	not provided [RCV003442358]	uncertain significance	X	12614862	12614862	Human		name
401944920	CV2840734	single nucleotide variant	NM_001368397.1(FRMPD4):c.3420T>C (p.Asp1140=)	not provided [RCV003457587]	likely benign	X	12718246	12718246	Human		name
405265128	CV3185493	single nucleotide variant	NM_001368397.1(FRMPD4):c.5124C>T (p.Ile1708=)	not provided [RCV003886057]	likely benign	X	12721693	12721693	Human		name
405697575	CV3226872	single nucleotide variant	NM_001368397.1(FRMPD4):c.868G>A (p.Val290Ile)	not provided [RCV003993266]	likely benign	X	12694389	12694389	Human		name
405764751	CV3261110	single nucleotide variant	NM_001368397.1(FRMPD4):c.338A>C (p.Lys113Thr)	Inborn genetic diseases [RCV004394878]	uncertain significance	X	12614797	12614797	Human	1	name
405764764	CV3261112	single nucleotide variant	NM_001368397.1(FRMPD4):c.563G>C (p.Gly188Ala)	Inborn genetic diseases [RCV004394880]	uncertain significance	X	12683577	12683577	Human	1	name
405854752	CV3394867	deletion	NM_001368397.1(FRMPD4):c.2800del (p.Arg934fs)	Intellectual disability, X-linked 104 [RCV004555008]	likely pathogenic	X	12717624	12717624	Human	1	name
407495882	CV3443073	single nucleotide variant	NM_001368397.1(FRMPD4):c.763G>C (p.Gly255Arg)	Inborn genetic diseases [RCV004621565]	uncertain significance	X	12690276	12690276	Human	1	name
407573999	CV3498348	single nucleotide variant	NM_001368397.1(FRMPD4):c.611A>G (p.Asn204Ser)	not specified [RCV004702823]	uncertain significance	X	12686134	12686134	Human		name
408390738	CV3520991	single nucleotide variant	NM_001368397.1(FRMPD4):c.972G>C (p.Glu324Asp)	not provided [RCV004762813]	uncertain significance	X	12701912	12701912	Human		name
408381357	CV3523843	single nucleotide variant	NM_001368397.1(FRMPD4):c.605T>G (p.Met202Arg)	not provided [RCV004766241]	uncertain significance	X	12686128	12686128	Human		name
596924734	CV3532387	single nucleotide variant	NM_001368397.1(FRMPD4):c.805C>G (p.Leu269Val)	not provided [RCV004777498]	uncertain significance	X	12690318	12690318	Human		name
596945266	CV3547779	single nucleotide variant	NM_001368397.1(FRMPD4):c.4734G>A (p.Leu1578=)	not provided [RCV004809110]	likely benign	X	12721303	12721303	Human		name
597670296	CV3677248	single nucleotide variant	NM_001368397.1(FRMPD4):c.792T>G (p.His264Gln)	Inborn genetic diseases [RCV004980220]	uncertain significance	X	12690305	12690305	Human	1	name
597719388	CV3733505	single nucleotide variant	NM_001368397.1(FRMPD4):c.550G>A (p.Val184Ile)	not provided [RCV005052695]	uncertain significance	X	12683564	12683564	Human		name
616938450	CV4012929	single nucleotide variant	NM_001368397.1(FRMPD4):c.826C>A (p.Pro276Thr)	not provided [RCV005410394]	uncertain significance	X	12694347	12694347	Human		name
616936726	CV4016363	single nucleotide variant	NM_001368397.1(FRMPD4):c.793G>A (p.Glu265Lys)	not provided [RCV005415229]	uncertain significance	X	12690306	12690306	Human		name
617152282	CV4018358	single nucleotide variant	NM_001368397.1(FRMPD4):c.664T>C (p.Cys222Arg)	not specified [RCV005418618]	uncertain significance	X	12686187	12686187	Human		name
617154243	CV4022620	single nucleotide variant	NM_001368397.1(FRMPD4):c.943G>A (p.Asp315Asn)	not provided [RCV005429977]	uncertain significance	X	12701883	12701883	Human		name
13216464	CV430648	single nucleotide variant	NM_001368397.1(FRMPD4):c.3813C>T (p.His1271=)	not provided [RCV004721398]\|not specified [RCV000503798]	benign\|likely benign	X	12718639	12718639	Human		name
13462718	CV438831	single nucleotide variant	NM_001368397.1(FRMPD4):c.721G>C (p.Gly241Arg)	Inborn genetic diseases [RCV004619310]\|not provided [RCV000514687]	uncertain significance	X	12690234	12690234	Human	1	name
14350080	CV590542	single nucleotide variant	NM_001368397.1(FRMPD4):c.856C>T (p.Arg286Ter)	Intellectual disability, X-linked 104 [RCV000735868]	pathogenic	X	12694377	12694377	Human	1	name
15162521	CV758276	single nucleotide variant	NM_001368397.1(FRMPD4):c.3567C>G (p.Arg1189=)	not provided [RCV000925907]	likely benign	X	12718393	12718393	Human		name
15147006	CV758277	single nucleotide variant	NM_001368397.1(FRMPD4):c.3702C>T (p.Pro1234=)	not provided [RCV000922819]	benign	X	12718528	12718528	Human		name
15097649	CV758278	single nucleotide variant	NM_001368397.1(FRMPD4):c.3822C>G (p.Thr1274=)	FRMPD4-related disorder [RCV003923199]\|not provided [RCV000914058]	benign\|likely benign	X	12718648	12718648	Human	1	name , trait , alternate_id
15167253	CV758279	single nucleotide variant	NM_001368397.1(FRMPD4):c.3880C>T (p.Leu1294=)	not provided [RCV000927049]	likely benign	X	12718706	12718706	Human		name
15102890	CV758280	single nucleotide variant	NM_001368397.1(FRMPD4):c.3907C>T (p.Leu1303=)	not provided [RCV000915054]	benign	X	12718733	12718733	Human		name
21070317	CV798159	single nucleotide variant	NM_001368397.1(FRMPD4):c.937T>C (p.Cys313Arg)	not provided [RCV000999319]	uncertain significance	X	12701877	12701877	Human		name
21070324	CV798161	single nucleotide variant	NM_001368397.1(FRMPD4):c.3459C>T (p.Asp1153=)	not provided [RCV000999321]	uncertain significance	X	12718285	12718285	Human		name
28891062	CV903649	single nucleotide variant	NM_001368397.1(FRMPD4):c.580G>A (p.Val194Ile)	Intellectual disability, X-linked 104 [RCV001170006]	uncertain significance	X	12686103	12686103	Human	1	name
38598030	CV964568	deletion	NM_001368397.1(FRMPD4):c.1298del (p.Lys433fs)	Intellectual disability, X-linked 104 [RCV001253352]	likely pathogenic	X	12707476	12707476	Human	1	name
40886615	CV974295	single nucleotide variant	NM_001368397.1(FRMPD4):c.572C>T (p.Ser191Leu)	Inborn genetic diseases [RCV001265784]\|Intellectual disability, X-linked 104 [RCV003405472]\|not provided [RCV003322873]	uncertain significance	X	12683586	12683586	Human	2	name
126729207	CV1018900	single nucleotide variant	NM_001368397.1(FRMPD4):c.1472C>G (p.Pro491Arg)	Intellectual disability, X-linked 104 [RCV001333086]	uncertain significance	X	12710400	12710400	Human	1	name
126729211	CV1018901	single nucleotide variant	NM_001368397.1(FRMPD4):c.1937C>T (p.Pro646Leu)	Intellectual disability, X-linked 104 [RCV001333087]	uncertain significance	X	12716396	12716396	Human	1	name
126735119	CV1022134	single nucleotide variant	NM_001368397.1(FRMPD4):c.2183C>T (p.Ala728Val)	FRMPD4-related disorder [RCV003416224]\|Intellectual disability, X-linked 104 [RCV001334783]	uncertain significance	X	12716642	12716642	Human	1	name , trait , alternate_id
127261493	CV1087269	single nucleotide variant	NM_001368397.1(FRMPD4):c.2425G>A (p.Ala809Thr)	Intellectual disability, X-linked 104 [RCV001420500]	uncertain significance	X	12716884	12716884	Human	1	name
150333691	CV1169935	single nucleotide variant	NM_001368397.1(FRMPD4):c.1858G>A (p.Ala620Thr)	not provided [RCV001537457]	uncertain significance	X	12716317	12716317	Human		name
150411138	CV1178670	single nucleotide variant	NM_001368397.1(FRMPD4):c.2836C>G (p.Leu946Val)	Inborn genetic diseases [RCV004616753]\|not provided [RCV001547005]	uncertain significance	X	12717662	12717662	Human	1	name
150428418	CV1189051	single nucleotide variant	NM_001368397.1(FRMPD4):c.1171C>A (p.Gln391Lys)	not provided [RCV001562244]	uncertain significance	X	12704459	12704459	Human		name
150534177	CV1293187	single nucleotide variant	NM_001368397.1(FRMPD4):c.2960A>C (p.Lys987Thr)	not provided [RCV001756406]	uncertain significance	X	12717786	12717786	Human		name
150534257	CV1293455	single nucleotide variant	NM_001368397.1(FRMPD4):c.1456G>A (p.Val486Met)	not provided [RCV001756676]	uncertain significance	X	12707637	12707637	Human		name
150539035	CV1293981	single nucleotide variant	NM_001368397.1(FRMPD4):c.2156T>C (p.Ile719Thr)	not provided [RCV001764821]	uncertain significance	X	12716615	12716615	Human		name
150535193	CV1294022	single nucleotide variant	NM_001368397.1(FRMPD4):c.1630C>T (p.His544Tyr)	not provided [RCV001758040]	uncertain significance	X	12716089	12716089	Human		name
150535244	CV1294156	single nucleotide variant	NM_001368397.1(FRMPD4):c.2415G>C (p.Met805Ile)	not provided [RCV001758174]	uncertain significance	X	12716874	12716874	Human		name
150544538	CV1295380	single nucleotide variant	NM_001368397.1(FRMPD4):c.2359C>T (p.Pro787Ser)	not provided [RCV001773815]	uncertain significance	X	12716818	12716818	Human		name
150536222	CV1298532	single nucleotide variant	NM_001368397.1(FRMPD4):c.1288C>A (p.Gln430Lys)	not provided [RCV001760680]	uncertain significance	X	12707469	12707469	Human		name
150536234	CV1298603	single nucleotide variant	NM_001368397.1(FRMPD4):c.2839G>A (p.Ala947Thr)	not provided [RCV001760751]	uncertain significance	X	12717665	12717665	Human		name
150539142	CV1299964	single nucleotide variant	NM_001368397.1(FRMPD4):c.1172A>G (p.Gln391Arg)	not provided [RCV001765434]	uncertain significance	X	12704460	12704460	Human		name
150541332	CV1301423	single nucleotide variant	NM_001368397.1(FRMPD4):c.1039C>G (p.Gln347Glu)	not provided [RCV001767833]	uncertain significance	X	12701979	12701979	Human		name
150541338	CV1301438	single nucleotide variant	NM_001368397.1(FRMPD4):c.2908G>T (p.Ala970Ser)	not provided [RCV001767848]	uncertain significance	X	12717734	12717734	Human		name
150541193	CV1302225	single nucleotide variant	NM_001368397.1(FRMPD4):c.2687T>C (p.Leu896Ser)	not provided [RCV001767489]	uncertain significance	X	12717513	12717513	Human		name
150530941	CV1310432	single nucleotide variant	NM_001368397.1(FRMPD4):c.1151C>A (p.Ser384Ter)	Intellectual disability, X-linked 104 [RCV001775360]	likely pathogenic	X	12704439	12704439	Human	1	name
150534809	CV1311631	single nucleotide variant	NM_001368397.1(FRMPD4):c.1954T>A (p.Ser652Thr)	Inborn genetic diseases [RCV002541099]\|not specified [RCV001779440]	uncertain significance	X	12716413	12716413	Human	1	name
150548621	CV1316436	single nucleotide variant	NM_001368397.1(FRMPD4):c.1090A>G (p.Thr364Ala)	not provided [RCV001786238]	uncertain significance	X	12704378	12704378	Human		name
151352045	CV1322248	single nucleotide variant	NM_001368397.1(FRMPD4):c.1778G>A (p.Arg593Gln)	not provided [RCV001806871]	uncertain significance	X	12716237	12716237	Human		name
151353642	CV1327194	single nucleotide variant	NM_001368397.1(FRMPD4):c.1682T>C (p.Ile561Thr)	not specified [RCV001817138]	uncertain significance	X	12716141	12716141	Human		name
151353860	CV1327412	single nucleotide variant	NM_001368397.1(FRMPD4):c.2072G>T (p.Gly691Val)	FRMPD4-related disorder [RCV003968574]\|not provided [RCV003438872]\|not specified [RCV001817356]	likely benign	X	12716531	12716531	Human	1	name , trait , alternate_id
151663515	CV1334005	single nucleotide variant	NM_001368397.1(FRMPD4):c.2917G>C (p.Ala973Pro)	Intellectual disability, X-linked 104 [RCV001839179]\|not provided [RCV003438878]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	12717743	12717743	Human	1	name
152154056	CV1667824	single nucleotide variant	NM_001368397.1(FRMPD4):c.1553C>G (p.Ser518Cys)	Inborn genetic diseases [RCV004617012]\|not provided [RCV002221716]	uncertain significance	X	12710481	12710481	Human	1	name
153301122	CV1688968	single nucleotide variant	NM_001368397.1(FRMPD4):c.2161G>A (p.Asp721Asn)	Intellectual disability, X-linked 104 [RCV002266696]	uncertain significance	X	12716620	12716620	Human	1	name
153350066	CV1694152	single nucleotide variant	NM_001368397.1(FRMPD4):c.2882G>A (p.Gly961Glu)	Intellectual disability, X-linked 104 [RCV002276504]	uncertain significance	X	12717708	12717708	Human	1	name
155265534	CV1695677	single nucleotide variant	NM_001368397.1(FRMPD4):c.1234T>C (p.Phe412Leu)	not provided [RCV002280408]	uncertain significance	X	12706862	12706862	Human		name
155265113	CV1695852	single nucleotide variant	NM_001368397.1(FRMPD4):c.1844A>T (p.Glu615Val)	not provided [RCV002280044]	uncertain significance	X	12716303	12716303	Human		name
155265979	CV1704855	single nucleotide variant	NM_001368397.1(FRMPD4):c.1405A>G (p.Arg469Gly)	Intellectual disability, X-linked 104 [RCV002285100]	uncertain significance	X	12707586	12707586	Human	1	name
155645588	CV1708980	single nucleotide variant	NM_001368397.1(FRMPD4):c.2681C>T (p.Ala894Val)	not provided [RCV002291856]	uncertain significance	X	12717507	12717507	Human		name
156391651	CV1995724	single nucleotide variant	NM_001368397.1(FRMPD4):c.1299G>T (p.Lys433Asn)	not provided [RCV002680822]	uncertain significance	X	12707480	12707480	Human		name
10403854	CV208860	single nucleotide variant	NM_001368397.1(FRMPD4):c.2048A>G (p.Glu683Gly)	Inborn genetic diseases [RCV002517075]\|not provided [RCV001572778]\|not specified [RCV000193561]	likely benign\|uncertain significance	X	12716507	12716507	Human	1	name
10403487	CV208862	single nucleotide variant	NM_001368397.1(FRMPD4):c.2182G>A (p.Ala728Thr)	Inborn genetic diseases [RCV003165433]\|not specified [RCV000192644]	likely benign\|uncertain significance	X	12716641	12716641	Human	1	name
10403827	CV208863	single nucleotide variant	NM_001368397.1(FRMPD4):c.2903C>T (p.Ser968Leu)	Inborn genetic diseases [RCV003165434]\|not specified [RCV000193481]	likely benign\|uncertain significance	X	12717729	12717729	Human	1	name
156377326	CV2189146	single nucleotide variant	NM_001368397.1(FRMPD4):c.1615G>A (p.Glu539Lys)	not provided [RCV003050215]	uncertain significance	X	12716074	12716074	Human		name
156246944	CV2192532	single nucleotide variant	NM_001368397.1(FRMPD4):c.1966G>A (p.Gly656Arg)	not provided [RCV003059872]	uncertain significance	X	12716425	12716425	Human		name
156224714	CV2202995	single nucleotide variant	NM_001368397.1(FRMPD4):c.2243C>G (p.Ala748Gly)	Inborn genetic diseases [RCV002644557]\|not provided [RCV003435885]	likely benign	X	12716702	12716702	Human	1	name
155974504	CV2235715	single nucleotide variant	NM_001368397.1(FRMPD4):c.1736C>A (p.Thr579Lys)	Inborn genetic diseases [RCV002777145]\|not provided [RCV004585006]	uncertain significance	X	12716195	12716195	Human	1	name
156357947	CV2250780	single nucleotide variant	NM_001368397.1(FRMPD4):c.1447G>C (p.Glu483Gln)	Inborn genetic diseases [RCV002812379]	uncertain significance	X	12707628	12707628	Human	1	name
156166369	CV2270412	single nucleotide variant	NM_001368397.1(FRMPD4):c.2081A>C (p.Asn694Thr)	Inborn genetic diseases [RCV002827700]	uncertain significance	X	12716540	12716540	Human	1	name
156068747	CV2270937	single nucleotide variant	NM_001368397.1(FRMPD4):c.1757C>T (p.Thr586Ile)	Inborn genetic diseases [RCV002823328]	likely benign	X	12716216	12716216	Human	1	name
156253021	CV2284010	single nucleotide variant	NM_001368397.1(FRMPD4):c.1592C>T (p.Thr531Ile)	Inborn genetic diseases [RCV002854954]\|not provided [RCV004763576]	uncertain significance	X	12710520	12710520	Human	1	name
156102066	CV2313535	single nucleotide variant	NM_001368397.1(FRMPD4):c.2409G>T (p.Leu803Phe)	Inborn genetic diseases [RCV002888694]	uncertain significance	X	12716868	12716868	Human	1	name
156177425	CV2327177	single nucleotide variant	NM_001368397.1(FRMPD4):c.2005C>T (p.Leu669Phe)	Inborn genetic diseases [RCV002916920]	uncertain significance	X	12716464	12716464	Human	1	name
156071073	CV2328467	single nucleotide variant	NM_001368397.1(FRMPD4):c.2591G>A (p.Gly864Glu)	Inborn genetic diseases [RCV002912351]\|not provided [RCV003457200]	uncertain significance	X	12717050	12717050	Human	1	name
155924764	CV2358208	single nucleotide variant	NM_001368397.1(FRMPD4):c.2932G>A (p.Asp978Asn)	Inborn genetic diseases [RCV002992456]\|Intellectual disability, X-linked 104 [RCV003140210]	uncertain significance	X	12717758	12717758	Human	2	name
156448867	CV2402287	single nucleotide variant	NM_001368397.1(FRMPD4):c.2291A>C (p.Glu764Ala)	not provided [RCV003120446]	uncertain significance	X	12716750	12716750	Human		name
243052983	CV2404486	single nucleotide variant	NM_001368397.1(FRMPD4):c.2620G>A (p.Gly874Arg)	not provided [RCV003129512]	uncertain significance	X	12717079	12717079	Human		name
243063931	CV2405460	single nucleotide variant	NM_001368397.1(FRMPD4):c.1828C>G (p.Leu610Val)	Intellectual disability, autosomal dominant 24 [RCV003142539]	uncertain significance	X	12716287	12716287	Human		name
243064717	CV2410236	single nucleotide variant	NM_001368397.1(FRMPD4):c.2233A>G (p.Thr745Ala)	Intellectual disability, X-linked 104 [RCV003143419]	uncertain significance	X	12716692	12716692	Human	1	name
243049830	CV2417199	single nucleotide variant	NM_001368397.1(FRMPD4):c.1981G>A (p.Asp661Asn)	not provided [RCV003152070]	uncertain significance	X	12716440	12716440	Human		name
243052696	CV2417982	deletion	NM_001368397.1(FRMPD4):c.3258del (p.Arg1087fs)	Intellectual disability, X-linked 104 [RCV003153047]	likely pathogenic	X	12718082	12718082	Human	1	name
329372479	CV2455229	single nucleotide variant	NM_001368397.1(FRMPD4):c.2805G>A (p.Met935Ile)	Inborn genetic diseases [RCV003210115]	uncertain significance	X	12717631	12717631	Human	1	name
11542386	CV249259	single nucleotide variant	NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg)	Intellectual disability, X-linked 104 [RCV000252374]	pathogenic\|likely pathogenic	X	12716116	12716116	Human	1	name
329953829	CV2669166	single nucleotide variant	NM_001368397.1(FRMPD4):c.2221T>C (p.Tyr741His)	not provided [RCV003231670]	uncertain significance	X	12716680	12716680	Human		name
401723457	CV2672126	single nucleotide variant	NM_001368397.1(FRMPD4):c.1455C>G (p.His485Gln)	not provided [RCV003239027]	uncertain significance	X	12707636	12707636	Human		name
401737321	CV2679283	single nucleotide variant	NM_001368397.1(FRMPD4):c.2200C>T (p.Pro734Ser)	Inborn genetic diseases [RCV003239819]	likely benign	X	12716659	12716659	Human	1	name
401730009	CV2683902	single nucleotide variant	NM_001368397.1(FRMPD4):c.2569G>A (p.Ala857Thr)	Inborn genetic diseases [RCV003248030]	likely benign	X	12717028	12717028	Human	1	name
401774436	CV2713458	single nucleotide variant	NM_001368397.1(FRMPD4):c.1790T>C (p.Ile597Thr)	Inborn genetic diseases [RCV003262549]	likely benign	X	12716249	12716249	Human	1	name
401722500	CV2737693	single nucleotide variant	NM_001368397.1(FRMPD4):c.1070A>G (p.Glu357Gly)	not provided [RCV003314865]	uncertain significance	X	12702010	12702010	Human		name
401722649	CV2737717	single nucleotide variant	NM_001368397.1(FRMPD4):c.2549T>A (p.Ile850Asn)	not provided [RCV003314889]	uncertain significance	X	12717008	12717008	Human		name
401740460	CV2738722	single nucleotide variant	NM_001368397.1(FRMPD4):c.1330C>T (p.Arg444Trp)	not provided [RCV003318116]	uncertain significance	X	12707511	12707511	Human		name
401798286	CV2739306	single nucleotide variant	NM_001368397.1(FRMPD4):c.2539G>A (p.Val847Met)	not provided [RCV003318954]	uncertain significance	X	12716998	12716998	Human		name
401797826	CV2740991	single nucleotide variant	NM_001368397.1(FRMPD4):c.2503G>A (p.Glu835Lys)	not provided [RCV003322155]	uncertain significance	X	12716962	12716962	Human		name
401797829	CV2740994	deletion	NM_001368397.1(FRMPD4):c.3108del (p.Lys1037fs)	not provided [RCV003322158]	likely pathogenic	X	12717931	12717931	Human		name
401798758	CV2742556	single nucleotide variant	NM_001368397.1(FRMPD4):c.1525G>A (p.Ala509Thr)	not provided [RCV003325000]	uncertain significance	X	12710453	12710453	Human		name
401829907	CV2747673	single nucleotide variant	NM_001368397.1(FRMPD4):c.1411G>T (p.Glu471Ter)	Intellectual disability, X-linked 104 [RCV003329107]	pathogenic	X	12707592	12707592	Human	1	name
401830640	CV2748264	single nucleotide variant	NM_001368397.1(FRMPD4):c.1661T>C (p.Ile554Thr)	not provided [RCV003329873]	uncertain significance	X	12716120	12716120	Human		name
401856457	CV2764795	single nucleotide variant	NM_001368397.1(FRMPD4):c.2554G>A (p.Ala852Thr)	Inborn genetic diseases [RCV003340413]	uncertain significance	X	12717013	12717013	Human	1	name
401878673	CV2767501	single nucleotide variant	NM_001368397.1(FRMPD4):c.2784G>T (p.Gln928His)	Inborn genetic diseases [RCV003364009]\|not provided [RCV004810000]	likely benign	X	12717610	12717610	Human	1	name
401898450	CV2787925	single nucleotide variant	NM_001368397.1(FRMPD4):c.1022C>T (p.Ala341Val)	Inborn genetic diseases [RCV003376629]	uncertain significance	X	12701962	12701962	Human	1	name
401859936	CV2794433	single nucleotide variant	NM_001368397.1(FRMPD4):c.1537C>T (p.Arg513Trp)	not provided [RCV003387601]	uncertain significance	X	12710465	12710465	Human		name
401915646	CV2795320	single nucleotide variant	NM_001368397.1(FRMPD4):c.2317C>G (p.Leu773Val)	Neurodevelopmental disorder [RCV003389155]	uncertain significance	X	12716776	12716776	Human	1	name
401906219	CV2799850	single nucleotide variant	NM_001368397.1(FRMPD4):c.1304C>T (p.Ser435Leu)	FRMPD4-related disorder [RCV003421163]	uncertain significance	X	12707485	12707485	Human		name , trait , alternate_id
401916529	CV2802304	single nucleotide variant	NM_001368397.1(FRMPD4):c.2812G>T (p.Ala938Ser)	FRMPD4-related disorder [RCV003429111]	uncertain significance	X	12717638	12717638	Human		name , trait , alternate_id
401931168	CV2823878	single nucleotide variant	NM_001368397.1(FRMPD4):c.1602G>T (p.Gln534His)	not provided [RCV003440996]	likely benign	X	12710530	12710530	Human		name
401931028	CV2823880	single nucleotide variant	NM_001368397.1(FRMPD4):c.2854G>A (p.Glu952Lys)	not provided [RCV003440998]	uncertain significance	X	12717680	12717680	Human		name
401916922	CV2829570	single nucleotide variant	NM_001368397.1(FRMPD4):c.1415T>A (p.Met472Lys)	not provided [RCV003443614]	uncertain significance	X	12707596	12707596	Human		name
401947025	CV2831888	single nucleotide variant	NM_001368397.1(FRMPD4):c.1772A>C (p.Glu591Ala)	Intellectual disability, X-linked 104 [RCV003447393]	uncertain significance	X	12716231	12716231	Human	1	name
404998201	CV2850131	single nucleotide variant	NM_001368397.1(FRMPD4):c.2257G>A (p.Glu753Lys)	Intellectual disability, X-linked 104 [RCV003493006]	uncertain significance	X	12716716	12716716	Human	1	name
405283836	CV3199711	single nucleotide variant	NM_001368397.1(FRMPD4):c.1883G>C (p.Arg628Pro)	FRMPD4-related disorder [RCV003979373]	uncertain significance	X	12716342	12716342	Human		name , trait , alternate_id
405269381	CV3201564	single nucleotide variant	NM_001368397.1(FRMPD4):c.1411G>A (p.Glu471Lys)	FRMPD4-related disorder [RCV003899477]	likely benign	X	12707592	12707592	Human		name , trait , alternate_id
405293674	CV3214382	single nucleotide variant	NM_001368397.1(FRMPD4):c.2956T>C (p.Ser986Pro)	FRMPD4-related disorder [RCV003932070]	uncertain significance	X	12717782	12717782	Human		name , trait , alternate_id
405282004	CV3224679	single nucleotide variant	NM_001368397.1(FRMPD4):c.2167A>G (p.Lys723Glu)	Intellectual disability, X-linked 104 [RCV003989014]	uncertain significance	X	12716626	12716626	Human	1	name
405764712	CV3261104	single nucleotide variant	NM_001368397.1(FRMPD4):c.1636C>T (p.Leu546Phe)	Inborn genetic diseases [RCV004394872]	likely benign	X	12716095	12716095	Human	1	name
405764724	CV3261106	single nucleotide variant	NM_001368397.1(FRMPD4):c.2648A>C (p.Glu883Ala)	Inborn genetic diseases [RCV004394874]	uncertain significance	X	12717107	12717107	Human	1	name
405764730	CV3261107	single nucleotide variant	NM_001368397.1(FRMPD4):c.2801G>A (p.Arg934His)	Inborn genetic diseases [RCV004394875]	uncertain significance	X	12717627	12717627	Human	1	name
405764738	CV3261108	single nucleotide variant	NM_001368397.1(FRMPD4):c.2803A>G (p.Met935Val)	Inborn genetic diseases [RCV004394876]\|not provided [RCV005422469]	uncertain significance	X	12717629	12717629	Human	1	name
405852307	CV3395900	single nucleotide variant	NM_001368397.1(FRMPD4):c.1335T>A (p.Tyr445Ter)	Intellectual disability, X-linked 104 [RCV004556919]	likely pathogenic	X	12707516	12707516	Human	1	name
407426900	CV3411700	single nucleotide variant	NM_001368397.1(FRMPD4):c.2449A>G (p.Ser817Gly)	not provided [RCV004590878]	uncertain significance	X	12716908	12716908	Human		name
407427182	CV3411802	single nucleotide variant	NM_001368397.1(FRMPD4):c.2988G>C (p.Glu996Asp)	not provided [RCV004591973]	uncertain significance	X	12717814	12717814	Human		name
407495898	CV3443068	single nucleotide variant	NM_001368397.1(FRMPD4):c.2179G>A (p.Ala727Thr)	Inborn genetic diseases [RCV004621560]	uncertain significance	X	12716638	12716638	Human	1	name
407572680	CV3497162	single nucleotide variant	NM_001368397.1(FRMPD4):c.1927C>T (p.Gln643Ter)	Intellectual disability, X-linked 104 [RCV004698982]	likely pathogenic	X	12716386	12716386	Human	1	name
408374851	CV3502539	single nucleotide variant	NM_001368397.1(FRMPD4):c.1793A>C (p.Asp598Ala)	not provided [RCV004726126]	uncertain significance	X	12716252	12716252	Human		name
408386781	CV3518539	single nucleotide variant	NM_001368397.1(FRMPD4):c.2582G>T (p.Cys861Phe)	not provided [RCV004760857]	uncertain significance	X	12717041	12717041	Human		name
408390263	CV3519282	single nucleotide variant	NM_001368397.1(FRMPD4):c.2303C>T (p.Pro768Leu)	not provided [RCV004762591]	uncertain significance	X	12716762	12716762	Human		name
408391806	CV3523428	single nucleotide variant	NM_001368397.1(FRMPD4):c.1096C>A (p.Leu366Ile)	not provided [RCV004770802]	uncertain significance	X	12704384	12704384	Human		name
408381657	CV3523936	single nucleotide variant	NM_001368397.1(FRMPD4):c.1948A>G (p.Lys650Glu)	not provided [RCV004766334]	uncertain significance	X	12716407	12716407	Human		name
408389939	CV3524837	single nucleotide variant	NM_001368397.1(FRMPD4):c.2635C>G (p.Leu879Val)	not provided [RCV004769732]	uncertain significance	X	12717094	12717094	Human		name
408390909	CV3527753	single nucleotide variant	NM_001368397.1(FRMPD4):c.1247T>C (p.Leu416Pro)	not provided [RCV004775022]	uncertain significance	X	12706875	12706875	Human		name
596926312	CV3530764	single nucleotide variant	NM_001368397.1(FRMPD4):c.2834C>A (p.Pro945His)	not provided [RCV004778349]	uncertain significance	X	12717660	12717660	Human		name
596930007	CV3531297	single nucleotide variant	NM_001368397.1(FRMPD4):c.2044C>A (p.Leu682Met)	not provided [RCV004779871]	uncertain significance	X	12716503	12716503	Human		name
596923865	CV3532047	single nucleotide variant	NM_001368397.1(FRMPD4):c.2170A>G (p.Ser724Gly)	not provided [RCV004777158]	uncertain significance	X	12716629	12716629	Human		name
596924477	CV3532277	single nucleotide variant	NM_001368397.1(FRMPD4):c.1906C>T (p.Pro636Ser)	Inborn genetic diseases [RCV004987229]\|not provided [RCV004777388]	uncertain significance	X	12716365	12716365	Human	1	name
596921985	CV3535614	single nucleotide variant	NM_001368397.1(FRMPD4):c.1906C>G (p.Pro636Ala)	Intellectual disability, X-linked 104 [RCV004785169]	uncertain significance	X	12716365	12716365	Human	1	name
596941982	CV3543921	single nucleotide variant	NM_001368397.1(FRMPD4):c.1264C>T (p.Arg422Cys)	not specified [RCV004799911]	uncertain significance	X	12706892	12706892	Human		name
596945488	CV3547932	single nucleotide variant	NM_001368397.1(FRMPD4):c.1711A>T (p.Thr571Ser)	not provided [RCV004809263]	uncertain significance	X	12716170	12716170	Human		name
596947192	CV3548742	single nucleotide variant	NM_001368397.1(FRMPD4):c.2778A>T (p.Gln926His)	not provided [RCV004811066]	uncertain significance	X	12717604	12717604	Human		name
597652569	CV3551914	single nucleotide variant	NM_001368397.1(FRMPD4):c.1861G>C (p.Asp621His)	not provided [RCV004820627]	uncertain significance	X	12716320	12716320	Human		name
597631267	CV3552660	single nucleotide variant	NM_001368397.1(FRMPD4):c.2420T>C (p.Ile807Thr)	not provided [RCV004823360]	uncertain significance	X	12716879	12716879	Human		name
597670284	CV3677246	single nucleotide variant	NM_001368397.1(FRMPD4):c.1691G>A (p.Gly564Glu)	Inborn genetic diseases [RCV004980218]	uncertain significance	X	12716150	12716150	Human	1	name
597682534	CV3677250	single nucleotide variant	NM_001368397.1(FRMPD4):c.2428C>G (p.Pro810Ala)	Inborn genetic diseases [RCV004983587]	likely benign	X	12716887	12716887	Human	1	name
597670305	CV3677251	single nucleotide variant	NM_001368397.1(FRMPD4):c.2915C>T (p.Ala972Val)	Inborn genetic diseases [RCV004980221]	uncertain significance	X	12717741	12717741	Human	1	name
597682542	CV3677252	single nucleotide variant	NM_001368397.1(FRMPD4):c.1142A>T (p.Lys381Ile)	Inborn genetic diseases [RCV004983588]	uncertain significance	X	12704430	12704430	Human	1	name
597670310	CV3677254	single nucleotide variant	NM_001368397.1(FRMPD4):c.2884G>T (p.Gly962Cys)	Inborn genetic diseases [RCV004980222]	uncertain significance	X	12717710	12717710	Human	1	name
597670322	CV3677257	single nucleotide variant	NM_001368397.1(FRMPD4):c.2800C>T (p.Arg934Cys)	Inborn genetic diseases [RCV004980224]	uncertain significance	X	12717626	12717626	Human	1	name
597670337	CV3677259	single nucleotide variant	NM_001368397.1(FRMPD4):c.1407G>T (p.Arg469Ser)	Inborn genetic diseases [RCV004980226]	uncertain significance	X	12707588	12707588	Human	1	name
597682559	CV3677260	single nucleotide variant	NM_001368397.1(FRMPD4):c.1478C>T (p.Thr493Met)	Inborn genetic diseases [RCV004983590]	uncertain significance	X	12710406	12710406	Human	1	name
597833608	CV3735623	single nucleotide variant	NM_001368397.1(FRMPD4):c.1141A>G (p.Lys381Glu)	not provided [RCV005063485]	uncertain significance	X	12704429	12704429	Human		name
597843137	CV3735850	single nucleotide variant	NM_001368397.1(FRMPD4):c.1801T>G (p.Tyr601Asp)	not provided [RCV005065199]	uncertain significance	X	12716260	12716260	Human		name
597895991	CV3853990	single nucleotide variant	NM_001368397.1(FRMPD4):c.2638T>A (p.Ser880Thr)	not provided [RCV005201273]	uncertain significance	X	12717097	12717097	Human		name
598125369	CV3883960	single nucleotide variant	NM_001368397.1(FRMPD4):c.2031G>C (p.Glu677Asp)	not provided [RCV005236315]	uncertain significance	X	12716490	12716490	Human		name
598218204	CV3891632	single nucleotide variant	NM_001368397.1(FRMPD4):c.1658G>A (p.Cys553Tyr)	Intellectual disability, X-linked 104 [RCV005252474]	uncertain significance	X	12716117	12716117	Human	1	name
598166783	CV3893262	duplication	NM_001368397.1(FRMPD4):c.3144dup (p.Gln1049fs)	Intellectual disability, X-linked 104 [RCV005255996]	likely pathogenic	X	12717963	12717964	Human	1	name
598219412	CV3895654	single nucleotide variant	NM_001368397.1(FRMPD4):c.2608G>A (p.Val870Ile)	X-linked complex neurodevelopmental disorder [RCV005360495]	uncertain significance	X	12717067	12717067	Human	1	name
598231386	CV3970342	single nucleotide variant	NM_001368397.1(FRMPD4):c.2081A>G (p.Asn694Ser)	Inborn genetic diseases [RCV005342404]	likely benign	X	12716540	12716540	Human	1	name
616935263	CV4009419	single nucleotide variant	NM_001368397.1(FRMPD4):c.1882C>G (p.Arg628Gly)	not provided [RCV005402591]	uncertain significance	X	12716341	12716341	Human		name
616935882	CV4015946	single nucleotide variant	NM_001368397.1(FRMPD4):c.2036C>T (p.Pro679Leu)	not provided [RCV005414810]	uncertain significance	X	12716495	12716495	Human		name
617150556	CV4017658	single nucleotide variant	NM_001368397.1(FRMPD4):c.1403A>T (p.Asn468Ile)	not provided [RCV005417316]	uncertain significance	X	12707584	12707584	Human		name
12905594	CV413811	single nucleotide variant	NM_001368397.1(FRMPD4):c.2878G>A (p.Ala960Thr)	FRMPD4-related disorder [RCV003902739]\|not provided [RCV000487715]	likely benign\|uncertain significance	X	12717704	12717704	Human	1	name , trait , alternate_id
13213758	CV430645	single nucleotide variant	NM_001368397.1(FRMPD4):c.1924G>A (p.Ala642Thr)	not specified [RCV000500282]	uncertain significance	X	12716383	12716383	Human		name
13215301	CV430646	single nucleotide variant	NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp)	FRMPD4-related disorder [RCV003902775]\|Intellectual disability, X-linked 104 [RCV001702790]\|not provided [RCV000964198]\|not specified [RCV000502341]	benign\|likely benign	X	12717058	12717058	Human	1	name , trait , alternate_id
13519083	CV486468	single nucleotide variant	NM_001368397.1(FRMPD4):c.1399G>A (p.Val467Ile)	not provided [RCV000585353]	uncertain significance	X	12707580	12707580	Human		name
14397364	CV613219	single nucleotide variant	NM_001368397.1(FRMPD4):c.1061A>G (p.Lys354Arg)	not provided [RCV000762605]	uncertain significance	X	12702001	12702001	Human		name
14397365	CV613220	single nucleotide variant	NM_001368397.1(FRMPD4):c.2402G>A (p.Arg801His)	not provided [RCV000762606]	likely benign\|uncertain significance	X	12716861	12716861	Human		name
15125197	CV743134	single nucleotide variant	NM_001368397.1(FRMPD4):c.1021G>A (p.Ala341Thr)	FRMPD4-related disorder [RCV003950481]\|Inborn genetic diseases [RCV004028465]\|not provided [RCV000896720]	likely benign	X	12701961	12701961	Human	2	name , trait , alternate_id
15102318	CV758268	single nucleotide variant	NM_001368397.1(FRMPD4):c.1840G>A (p.Gly614Arg)	FRMPD4-related disorder [RCV003923213]\|not provided [RCV000914946]	benign\|likely benign	X	12716299	12716299	Human	1	name , trait , alternate_id
15132135	CV773737	single nucleotide variant	NM_001368397.1(FRMPD4):c.1736C>T (p.Thr579Met)	FRMPD4-related disorder [RCV003942965]\|Inborn genetic diseases [RCV004029723]\|not provided [RCV000942349]	benign\|likely benign	X	12716195	12716195	Human	2	name , trait , alternate_id
15177697	CV773738	single nucleotide variant	NM_001368397.1(FRMPD4):c.2003C>A (p.Thr668Asn)	Inborn genetic diseases [RCV002544411]\|Intellectual disability, X-linked 104 [RCV003141897]\|not provided [RCV000929221]	benign\|likely benign\|uncertain significance	X	12716462	12716462	Human	2	name
15173885	CV789138	single nucleotide variant	NM_001368397.1(FRMPD4):c.1288C>G (p.Gln430Glu)	Intellectual disability, X-linked 104 [RCV000984494]	uncertain significance	X	12707469	12707469	Human	1	name
21070321	CV798160	single nucleotide variant	NM_001368397.1(FRMPD4):c.2684T>A (p.Ile895Asn)	not provided [RCV000999320]	uncertain significance	X	12717510	12717510	Human		name
38462455	CV919973	single nucleotide variant	NM_001368397.1(FRMPD4):c.1925C>T (p.Ala642Val)	Inborn genetic diseases [RCV002559264]\|Intellectual disability, X-linked 104 [RCV001198441]	likely benign\|uncertain significance	X	12716384	12716384	Human	2	name
38466704	CV920996	single nucleotide variant	NM_001368397.1(FRMPD4):c.2605G>A (p.Val869Ile)	FRMPD4-related disorder [RCV003405382]\|Inborn genetic diseases [RCV003353200]\|not provided [RCV001200205]	likely benign\|uncertain significance	X	12717064	12717064	Human	2	name , trait , alternate_id
38596445	CV963945	single nucleotide variant	NM_001368397.1(FRMPD4):c.2494G>A (p.Glu832Lys)	Intellectual disability [RCV001251760]	likely benign	X	12716953	12716953	Human	2	name
40814782	CV971176	single nucleotide variant	NM_001368397.1(FRMPD4):c.1423G>A (p.Glu475Lys)	Intellectual disability, X-linked 104 [RCV001262275]\|not provided [RCV001815529]\|not specified [RCV001819967]	uncertain significance	X	12707604	12707604	Human	1	name
40887299	CV974296	single nucleotide variant	NM_001368397.1(FRMPD4):c.2182G>C (p.Ala728Pro)	Inborn genetic diseases [RCV001266814]\|Intellectual disability, X-linked 104 [RCV002471070]	uncertain significance	X	12716641	12716641	Human	2	name
40888014	CV974297	single nucleotide variant	NM_001368397.1(FRMPD4):c.2737T>C (p.Ser913Pro)	Inborn genetic diseases [RCV001267539]\|Intellectual disability, X-linked 104 [RCV003147604]	uncertain significance	X	12717563	12717563	Human	2	name
126729215	CV1018902	single nucleotide variant	NM_001368397.1(FRMPD4):c.3281A>T (p.Tyr1094Phe)	Intellectual disability, X-linked 104 [RCV001333088]\|not provided [RCV001751650]	uncertain significance	X	12718107	12718107	Human	1	name
126735124	CV1022135	single nucleotide variant	NM_001368397.1(FRMPD4):c.3040C>A (p.Leu1014Met)	Intellectual disability, X-linked 104 [RCV001334784]	uncertain significance	X	12717866	12717866	Human	1	name
150337962	CV1173703	single nucleotide variant	NM_001368397.1(FRMPD4):c.3173A>G (p.Glu1058Gly)	not provided [RCV001541938]	uncertain significance	X	12717999	12717999	Human		name
150338167	CV1173827	single nucleotide variant	NM_001368397.1(FRMPD4):c.3841C>G (p.Gln1281Glu)	not provided [RCV001542092]	uncertain significance	X	12718667	12718667	Human		name
150411293	CV1196297	single nucleotide variant	NM_001368397.1(FRMPD4):c.3491A>T (p.Asp1164Val)	not provided [RCV001573601]	likely benign	X	12718317	12718317	Human		name
150467863	CV1207166	single nucleotide variant	NM_001368397.1(FRMPD4):c.3758G>C (p.Gly1253Ala)	not provided [RCV001587958]	uncertain significance	X	12718584	12718584	Human		name
150543722	CV1296434	single nucleotide variant	NM_001368397.1(FRMPD4):c.3364G>A (p.Gly1122Arg)	not provided [RCV001770671]	uncertain significance	X	12718190	12718190	Human		name
150544620	CV1296774	single nucleotide variant	NM_001368397.1(FRMPD4):c.3574G>A (p.Asp1192Asn)	not provided [RCV001774064]	uncertain significance	X	12718400	12718400	Human		name
150544058	CV1310026	single nucleotide variant	NM_001368397.1(FRMPD4):c.3721C>A (p.Pro1241Thr)	not provided [RCV003238032]	uncertain significance	X	12718547	12718547	Human		name
151352054	CV1322257	single nucleotide variant	NM_001368397.1(FRMPD4):c.3889G>C (p.Ala1297Pro)	not provided [RCV001806880]	uncertain significance	X	12718715	12718715	Human		name
151350515	CV1324746	single nucleotide variant	NM_001368397.1(FRMPD4):c.3593G>A (p.Arg1198Gln)	Intellectual disability, X-linked 104 [RCV001809191]\|not provided [RCV002291768]	uncertain significance	X	12718419	12718419	Human	1	name
151350256	CV1325553	single nucleotide variant	NM_001368397.1(FRMPD4):c.4562G>A (p.Arg1521Lys)	not provided [RCV001814840]	uncertain significance	X	12721131	12721131	Human		name
151350263	CV1325554	single nucleotide variant	NM_001368397.1(FRMPD4):c.5022G>A (p.Met1674Ile)	not provided [RCV001814841]	uncertain significance	X	12721591	12721591	Human		name
151354064	CV1327616	single nucleotide variant	NM_001368397.1(FRMPD4):c.3115C>A (p.Pro1039Thr)	not specified [RCV001817560]	uncertain significance	X	12717941	12717941	Human		name
8657558	CV134562	single nucleotide variant	NM_001368397.1(FRMPD4):c.3523G>A (p.Asp1175Asn)	Inborn genetic diseases [RCV004975278]\|not provided [RCV000117101]	uncertain significance	X	12718349	12718349	Human	1	name
151846564	CV1386611	single nucleotide variant	NM_001368397.1(FRMPD4):c.3523G>C (p.Asp1175His)	not provided [RCV001882021]	uncertain significance	X	12718349	12718349	Human		name
153302189	CV1688103	single nucleotide variant	NM_001368397.1(FRMPD4):c.3701C>A (p.Pro1234His)	not provided [RCV002265329]	uncertain significance	X	12718527	12718527	Human		name
153345879	CV1690849	single nucleotide variant	NM_001368397.1(FRMPD4):c.3046A>T (p.Met1016Leu)	not specified [RCV002271748]	uncertain significance	X	12717872	12717872	Human		name
155265539	CV1695682	single nucleotide variant	NM_001368397.1(FRMPD4):c.3682G>C (p.Gly1228Arg)	not provided [RCV002280413]	uncertain significance	X	12718508	12718508	Human		name
155266719	CV1699280	single nucleotide variant	NM_001368397.1(FRMPD4):c.3053C>T (p.Ser1018Leu)	not provided [RCV002283075]	uncertain significance	X	12717879	12717879	Human		name
155266782	CV1699313	single nucleotide variant	NM_001368397.1(FRMPD4):c.3171G>T (p.Met1057Ile)	not provided [RCV002283108]	uncertain significance	X	12717997	12717997	Human		name
155644867	CV1710436	single nucleotide variant	NM_001368397.1(FRMPD4):c.3707A>G (p.Glu1236Gly)	not provided [RCV002293732]	uncertain significance	X	12718533	12718533	Human		name
9688354	CV177173	single nucleotide variant	NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys)	not provided [RCV000904861]\|not specified [RCV000153275]	benign\|likely benign	X	12718205	12718205	Human		name
156165961	CV1866884	single nucleotide variant	NM_001368397.1(FRMPD4):c.3293A>G (p.Glu1098Gly)	not provided [RCV002508436]	uncertain significance	X	12718119	12718119	Human		name
10404076	CV208865	single nucleotide variant	NM_001368397.1(FRMPD4):c.3938G>A (p.Arg1313Gln)	Inborn genetic diseases [RCV005338101]\|not provided [RCV001532193]\|not specified [RCV000194122]	likely benign\|uncertain significance	X	12718764	12718764	Human	1	name
156126413	CV2223681	single nucleotide variant	NM_001368397.1(FRMPD4):c.3356C>G (p.Ser1119Cys)	Inborn genetic diseases [RCV002708178]	uncertain significance	X	12718182	12718182	Human	1	name
156181642	CV2246271	single nucleotide variant	NM_001368397.1(FRMPD4):c.3272A>G (p.Gln1091Arg)	Inborn genetic diseases [RCV002802314]	uncertain significance	X	12718098	12718098	Human	1	name
155991281	CV2276569	single nucleotide variant	NM_001368397.1(FRMPD4):c.3803T>G (p.Leu1268Arg)	Inborn genetic diseases [RCV002864530]	uncertain significance	X	12718629	12718629	Human	1	name
156075433	CV2291410	single nucleotide variant	NM_001368397.1(FRMPD4):c.3766G>A (p.Val1256Met)	Inborn genetic diseases [RCV002887125]	likely benign	X	12718592	12718592	Human	1	name
243051687	CV2404050	single nucleotide variant	NM_001368397.1(FRMPD4):c.3202G>T (p.Val1068Leu)	not provided [RCV003129088]	uncertain significance	X	12718028	12718028	Human		name
243051694	CV2404060	single nucleotide variant	NM_001368397.1(FRMPD4):c.3486C>G (p.Asp1162Glu)	not provided [RCV003129094]	uncertain significance	X	12718312	12718312	Human		name
243053476	CV2404289	single nucleotide variant	NM_001368397.1(FRMPD4):c.3904C>T (p.Pro1302Ser)	not provided [RCV003129315]	uncertain significance	X	12718730	12718730	Human		name
243062567	CV2405041	single nucleotide variant	NM_001368397.1(FRMPD4):c.3894T>G (p.Ile1298Met)	Intellectual disability, X-linked 104 [RCV003140591]	uncertain significance	X	12718720	12718720	Human	1	name
243063899	CV2405425	single nucleotide variant	NM_001368397.1(FRMPD4):c.3596T>C (p.Met1199Thr)	Intellectual disability, X-linked 104 [RCV003142504]	uncertain significance	X	12718422	12718422	Human	1	name
243064715	CV2410234	single nucleotide variant	NM_001368397.1(FRMPD4):c.3388G>C (p.Glu1130Gln)	Intellectual disability, X-linked 104 [RCV003143417]	uncertain significance	X	12718214	12718214	Human	1	name
243064716	CV2410235	single nucleotide variant	NM_001368397.1(FRMPD4):c.3863G>A (p.Arg1288Gln)	Intellectual disability, X-linked 104 [RCV003143418]	uncertain significance	X	12718689	12718689	Human	1	name
243064718	CV2410237	single nucleotide variant	NM_001368397.1(FRMPD4):c.3505G>A (p.Ala1169Thr)	Intellectual disability, X-linked 104 [RCV003143420]	uncertain significance	X	12718331	12718331	Human	1	name
243064719	CV2410238	single nucleotide variant	NM_001368397.1(FRMPD4):c.3779C>G (p.Pro1260Arg)	Intellectual disability, X-linked 104 [RCV003143421]	uncertain significance	X	12718605	12718605	Human	1	name
243064782	CV2410239	single nucleotide variant	NM_001368397.1(FRMPD4):c.3641A>G (p.Gln1214Arg)	Intellectual disability, X-linked 104 [RCV003143422]	uncertain significance	X	12718467	12718467	Human	1	name
243050153	CV2419572	single nucleotide variant	NM_001368397.1(FRMPD4):c.3810C>A (p.Asn1270Lys)	not provided [RCV003156504]	uncertain significance	X	12718636	12718636	Human		name
329952265	CV2668960	single nucleotide variant	NM_001368397.1(FRMPD4):c.3899C>G (p.Thr1300Ser)	not specified [RCV003231045]	uncertain significance	X	12718725	12718725	Human		name
329954330	CV2670471	duplication	NM_001368397.1(FRMPD4):c.3024dup (p.Asp1009Ter)	Intellectual disability, X-linked 104 [RCV003234808]	likely pathogenic	X	12717849	12717850	Human	1	name
401723985	CV2672210	single nucleotide variant	NM_001368397.1(FRMPD4):c.3535A>C (p.Lys1179Gln)	not provided [RCV003239111]	uncertain significance	X	12718361	12718361	Human		name
401797179	CV2742008	single nucleotide variant	NM_001368397.1(FRMPD4):c.3634A>G (p.Ser1212Gly)	not specified [RCV003324184]	uncertain significance	X	12718460	12718460	Human		name
401905203	CV2796136	single nucleotide variant	NM_001368397.1(FRMPD4):c.3466T>C (p.Cys1156Arg)	FRMPD4-related disorder [RCV003420789]\|not specified [RCV005240759]	uncertain significance	X	12718292	12718292	Human	1	name , trait , alternate_id
401931029	CV2823881	single nucleotide variant	NM_001368397.1(FRMPD4):c.3097G>A (p.Asp1033Asn)	Inborn genetic diseases [RCV004978871]\|not provided [RCV003440999]	likely benign	X	12717923	12717923	Human	1	name
401931030	CV2823882	single nucleotide variant	NM_001368397.1(FRMPD4):c.3398C>G (p.Ala1133Gly)	not provided [RCV003441000]	likely benign	X	12718224	12718224	Human		name
401931033	CV2823884	single nucleotide variant	NM_001368397.1(FRMPD4):c.3703G>A (p.Val1235Met)	Inborn genetic diseases [RCV005335773]\|not provided [RCV003441002]	likely benign	X	12718529	12718529	Human	1	name
401905562	CV2831523	single nucleotide variant	NM_001368397.1(FRMPD4):c.3440G>A (p.Gly1147Glu)	Intellectual disability, X-linked 104 [RCV003444516]	uncertain significance	X	12718266	12718266	Human	1	name
402517620	CV3003309	single nucleotide variant	NM_001368397.1(FRMPD4):c.3145C>T (p.Gln1049Ter)	not provided [RCV003716192]	pathogenic	X	12717971	12717971	Human		name
405286153	CV3218684	single nucleotide variant	NM_001368397.1(FRMPD4):c.3899C>A (p.Thr1300Asn)	FRMPD4-related disorder [RCV003959411]\|Inborn genetic diseases [RCV004981149]	benign\|likely benign	X	12718725	12718725	Human	2	name , trait , alternate_id
405281990	CV3224668	single nucleotide variant	NM_001368397.1(FRMPD4):c.3710C>T (p.Ser1237Leu)	Inborn genetic diseases [RCV005335975]\|Intellectual disability, X-linked 104 [RCV003989003]	likely benign\|uncertain significance	X	12718536	12718536	Human	2	name
405690731	CV3227435	single nucleotide variant	NM_001368397.1(FRMPD4):c.3004A>G (p.Met1002Val)	Intellectual disability, X-linked 104 [RCV003991779]	uncertain significance	X	12717830	12717830	Human	1	name
405725645	CV3235093	single nucleotide variant	NM_001368397.1(FRMPD4):c.3598T>C (p.Ser1200Pro)	not provided [RCV004018122]	uncertain significance	X	12718424	12718424	Human		name
405764744	CV3261109	single nucleotide variant	NM_001368397.1(FRMPD4):c.3125G>A (p.Gly1042Glu)	Inborn genetic diseases [RCV004394877]	uncertain significance	X	12717951	12717951	Human	1	name
405764756	CV3261111	single nucleotide variant	NM_001368397.1(FRMPD4):c.3682G>A (p.Gly1228Ser)	Inborn genetic diseases [RCV004394879]	likely benign	X	12718508	12718508	Human	1	name
405854196	CV3392896	single nucleotide variant	NM_001368397.1(FRMPD4):c.3428G>A (p.Gly1143Glu)	not specified [RCV004527053]	uncertain significance	X	12718254	12718254	Human		name
405853155	CV3393588	single nucleotide variant	NM_001368397.1(FRMPD4):c.3547G>C (p.Ala1183Pro)	not provided [RCV004546318]	uncertain significance	X	12718373	12718373	Human		name
405854836	CV3394952	single nucleotide variant	NM_001368397.1(FRMPD4):c.3640C>G (p.Gln1214Glu)	not provided [RCV004555093]	uncertain significance	X	12718466	12718466	Human		name
405872180	CV3398296	single nucleotide variant	NM_001368397.1(FRMPD4):c.3446G>T (p.Arg1149Leu)	not provided [RCV004575297]	uncertain significance	X	12718272	12718272	Human		name
407426495	CV3411362	single nucleotide variant	NM_001368397.1(FRMPD4):c.3460G>A (p.Val1154Met)	not provided [RCV004590539]	uncertain significance	X	12718286	12718286	Human		name
407495912	CV3443064	single nucleotide variant	NM_001368397.1(FRMPD4):c.3428G>T (p.Gly1143Val)	Inborn genetic diseases [RCV004621556]	likely benign	X	12718254	12718254	Human	1	name
407495908	CV3443065	single nucleotide variant	NM_001368397.1(FRMPD4):c.3814G>A (p.Gly1272Arg)	Inborn genetic diseases [RCV004621557]	likely benign	X	12718640	12718640	Human	1	name
407495894	CV3443069	single nucleotide variant	NM_001368397.1(FRMPD4):c.3799G>A (p.Gly1267Arg)	Inborn genetic diseases [RCV004621561]	uncertain significance	X	12718625	12718625	Human	1	name
407574045	CV3498394	single nucleotide variant	NM_001368397.1(FRMPD4):c.3497C>G (p.Pro1166Arg)	not specified [RCV004702869]	uncertain significance	X	12718323	12718323	Human		name
408374552	CV3502464	single nucleotide variant	NM_001368397.1(FRMPD4):c.3406G>A (p.Gly1136Arg)	not provided [RCV004726051]	uncertain significance	X	12718232	12718232	Human		name
596930993	CV3529835	single nucleotide variant	NM_001368397.1(FRMPD4):c.3794C>A (p.Ala1265Asp)	not provided [RCV004780885]	uncertain significance	X	12718620	12718620	Human		name
596929296	CV3531034	single nucleotide variant	NM_001368397.1(FRMPD4):c.3370A>T (p.Arg1124Trp)	not provided [RCV004779608]	uncertain significance	X	12718196	12718196	Human		name
596928018	CV3532774	single nucleotide variant	NM_001368397.1(FRMPD4):c.3068G>A (p.Cys1023Tyr)	not provided [RCV004778872]	uncertain significance	X	12717894	12717894	Human		name
596921784	CV3535410	single nucleotide variant	NM_001368397.1(FRMPD4):c.4793G>C (p.Ser1598Thr)	Intellectual disability, X-linked 104 [RCV004784965]	uncertain significance	X	12721362	12721362	Human	1	name
596922333	CV3537062	single nucleotide variant	NM_001368397.1(FRMPD4):c.3404A>G (p.Asp1135Gly)	not provided [RCV004786057]	uncertain significance	X	12718230	12718230	Human		name
596943770	CV3543025	single nucleotide variant	NM_001368397.1(FRMPD4):c.3459C>G (p.Asp1153Glu)	not provided [RCV004798610]	uncertain significance	X	12718285	12718285	Human		name
596938597	CV3549649	single nucleotide variant	NM_001368397.1(FRMPD4):c.3809A>T (p.Asn1270Ile)	not provided [RCV004812689]	uncertain significance	X	12718635	12718635	Human		name
597682520	CV3677244	single nucleotide variant	NM_001368397.1(FRMPD4):c.3721C>T (p.Pro1241Ser)	Inborn genetic diseases [RCV004983585]	uncertain significance	X	12718547	12718547	Human	1	name
597670279	CV3677245	single nucleotide variant	NM_001368397.1(FRMPD4):c.3268A>G (p.Ser1090Gly)	Inborn genetic diseases [RCV004980217]	likely benign	X	12718094	12718094	Human	1	name
597670290	CV3677247	single nucleotide variant	NM_001368397.1(FRMPD4):c.3161C>T (p.Thr1054Met)	Inborn genetic diseases [RCV004980219]	likely benign	X	12717987	12717987	Human	1	name
597682532	CV3677249	single nucleotide variant	NM_001368397.1(FRMPD4):c.3818C>G (p.Ala1273Gly)	Inborn genetic diseases [RCV004983586]	uncertain significance	X	12718644	12718644	Human	1	name
597670316	CV3677255	single nucleotide variant	NM_001368397.1(FRMPD4):c.3098A>T (p.Asp1033Val)	Inborn genetic diseases [RCV004980223]	uncertain significance	X	12717924	12717924	Human	1	name
597670330	CV3677258	single nucleotide variant	NM_001368397.1(FRMPD4):c.3517A>C (p.Thr1173Pro)	Inborn genetic diseases [RCV004980225]	uncertain significance	X	12718343	12718343	Human	1	name
597833313	CV3734950	single nucleotide variant	NM_001368397.1(FRMPD4):c.3245A>G (p.Glu1082Gly)	not provided [RCV005054683]	uncertain significance	X	12718071	12718071	Human		name
598125699	CV3885908	single nucleotide variant	NM_001368397.1(FRMPD4):c.3381A>C (p.Glu1127Asp)	not provided [RCV005241711]	uncertain significance	X	12718207	12718207	Human		name
598232749	CV3886468	single nucleotide variant	NM_001368397.1(FRMPD4):c.3662G>A (p.Gly1221Asp)	Intellectual disability, X-linked 104 [RCV005255912]	uncertain significance	X	12718488	12718488	Human	1	name
598216959	CV3891344	single nucleotide variant	NM_001368397.1(FRMPD4):c.5218C>T (p.Arg1740Ter)	Intellectual disability, X-linked 104 [RCV005252186]	uncertain significance	X	12721787	12721787	Human	1	name
598225490	CV3894256	single nucleotide variant	NM_001368397.1(FRMPD4):c.4486T>C (p.Trp1496Arg)	not provided [RCV005257499]	likely benign	X	12721055	12721055	Human		name
598231391	CV3970343	single nucleotide variant	NM_001368397.1(FRMPD4):c.3109A>G (p.Lys1037Glu)	Inborn genetic diseases [RCV005342405]\|not specified [RCV005407435]	uncertain significance	X	12717935	12717935	Human	1	name
598178813	CV4008496	single nucleotide variant	NM_001368397.1(FRMPD4):c.4858G>A (p.Val1620Ile)	Intellectual disability, X-linked 104 [RCV005394015]	uncertain significance	X	12721427	12721427	Human	1	name
598178844	CV4008501	single nucleotide variant	NM_001368397.1(FRMPD4):c.5213C>T (p.Ser1738Leu)	Intellectual disability, X-linked 104 [RCV005394020]	uncertain significance	X	12721782	12721782	Human	1	name
616935382	CV4009496	single nucleotide variant	NM_001368397.1(FRMPD4):c.3838C>G (p.Pro1280Ala)	not provided [RCV005402668]	uncertain significance	X	12718664	12718664	Human		name
616939379	CV4015710	single nucleotide variant	NM_001368397.1(FRMPD4):c.4124C>T (p.Ala1375Val)	Intellectual disability, X-linked 104 [RCV005413222]	uncertain significance	X	12720693	12720693	Human	1	name
617152589	CV4017895	single nucleotide variant	NM_001368397.1(FRMPD4):c.3905C>T (p.Pro1302Leu)	Intellectual disability, X-linked 104 [RCV005417685]	uncertain significance	X	12718731	12718731	Human	1	name
617154019	CV4022182	single nucleotide variant	NM_001368397.1(FRMPD4):c.3895A>G (p.Asn1299Asp)	not provided [RCV005429538]	uncertain significance	X	12718721	12718721	Human		name
13215364	CV430647	single nucleotide variant	NM_001368397.1(FRMPD4):c.3067T>C (p.Cys1023Arg)	Inborn genetic diseases [RCV003343869]\|not provided [RCV003992305]\|not specified [RCV000502167]	likely benign\|uncertain significance	X	12717893	12717893	Human	1	name
14397366	CV613221	single nucleotide variant	NM_001368397.1(FRMPD4):c.3713C>T (p.Pro1238Leu)	not provided [RCV000762607]	uncertain significance	X	12718539	12718539	Human		name
15133737	CV743136	single nucleotide variant	NM_001368397.1(FRMPD4):c.3438A>C (p.Gln1146His)	FRMPD4-related disorder [RCV003958093]\|not provided [RCV000898178]	likely benign	X	12718264	12718264	Human	1	name , trait , alternate_id
15179668	CV743137	single nucleotide variant	NM_001368397.1(FRMPD4):c.3566G>A (p.Arg1189His)	not provided [RCV000907168]	benign\|likely benign	X	12718392	12718392	Human		name
15134950	CV786698	single nucleotide variant	NM_001368397.1(FRMPD4):c.3260G>A (p.Arg1087His)	Inborn genetic diseases [RCV004030061]\|not provided [RCV000981838]	benign\|likely benign	X	12718086	12718086	Human	1	name
21070327	CV798162	single nucleotide variant	NM_001368397.1(FRMPD4):c.3743T>G (p.Ile1248Ser)	not provided [RCV000999322]	uncertain significance	X	12718569	12718569	Human		name
40887014	CV974298	single nucleotide variant	NM_001368397.1(FRMPD4):c.3059C>T (p.Ala1020Val)	Inborn genetic diseases [RCV001266386]	uncertain significance	X	12717885	12717885	Human	1	name
40887072	CV974299	single nucleotide variant	NM_001368397.1(FRMPD4):c.3308A>G (p.Glu1103Gly)	Inborn genetic diseases [RCV001266482]	uncertain significance	X	12718134	12718134	Human	1	name
40886536	CV974300	single nucleotide variant	NM_001368397.1(FRMPD4):c.3794C>T (p.Ala1265Val)	Inborn genetic diseases [RCV001265663]	uncertain significance	X	12718620	12718620	Human	1	name
156141885	CV2199974	microsatellite	NM_001368397.1(FRMPD4):c.3784GAG[1] (p.Glu1263del)	Inborn genetic diseases [RCV002641327]	uncertain significance	X	12718610	12718612	Human		name
153348448	CV1692485	deletion	NM_001368397.1(FRMPD4):c.3025_3028del (p.Asp1009fs)	Neurodevelopmental delay [RCV002274338]	likely pathogenic	X	12717848	12717851	Human	1	name
596929846	CV3531190	deletion	NM_001368397.1(FRMPD4):c.3207_3209del (p.Ser1070del)	not provided [RCV004779764]	uncertain significance	X	12718031	12718033	Human		name
150555922	CV1305427	inversion	NM_001368397.1(FRMPD4):c.3677_3686inv (p.Ser1226_Ser1229delinsThrAlaThrAla)	not provided [RCV001773360]	uncertain significance	X	12718503	12718512	Human		name

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