Shroom4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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274 records found for search term Shroom4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150534711	CV1311540	single nucleotide variant	NM_020717.5(SHROOM4):c.4212+1G>A	X-linked intellectual disability, Stocco dos Santos type [RCV001779386]	likely pathogenic	X	50598265	50598265	Human	1	name
155643571	CV1668085	single nucleotide variant	NM_020717.5(SHROOM4):c.3942+1G>A	X-linked intellectual disability, Stocco dos Santos type [RCV002287904]	uncertain significance	X	50602632	50602632	Human	1	name
151351850	CV1323682	single nucleotide variant	NM_020717.5(SHROOM4):c.3942+48T>C	X-linked intellectual disability, Stocco dos Santos type [RCV001807591]	benign	X	50602585	50602585	Human	1	name
10404656	CV209087	single nucleotide variant	NM_020717.5(SHROOM4):c.2896-17A>G	not specified [RCV000195191]	likely benign	X	50627692	50627692	Human		name
8587480	CV122111	single nucleotide variant	NM_020717.3(SHROOM4):c.118-22113G>T	Lung cancer [RCV000102631]	uncertain significance	X	50718050	50718050	Human		name
8660691	CV135761	single nucleotide variant	NM_020717.5(SHROOM4):c.96T>C (p.Cys32=)	not provided [RCV004703389]\|not specified [RCV000118352]	benign\|likely benign	X	50813923	50813923	Human		name
152103916	CV1667544	single nucleotide variant	NM_020717.5(SHROOM4):c.66C>T (p.Gly22=)	not provided [RCV002214532]	likely benign	X	50813953	50813953	Human		name
21070732	CV798333	single nucleotide variant	NM_020717.5(SHROOM4):c.39G>A (p.Val13=)	not provided [RCV000999436]	uncertain significance	X	50813980	50813980	Human		name
151354108	CV1327660	single nucleotide variant	NM_020717.5(SHROOM4):c.747C>T (p.Thr249=)	not specified [RCV001817604]	likely benign	X	50635326	50635326	Human		name
329398145	CV2464812	single nucleotide variant	NM_020717.5(SHROOM4):c.64G>A (p.Gly22Ser)	not specified [RCV004284761]	uncertain significance	X	50813955	50813955	Human		name
408374999	CV3509193	single nucleotide variant	NM_020717.5(SHROOM4):c.83G>T (p.Gly28Val)	SHROOM4-related disorder [RCV004747695]	uncertain significance	X	50813936	50813936	Human		name , trait , alternate_id
596920625	CV3534075	single nucleotide variant	NM_020717.5(SHROOM4):c.582G>T (p.Ser194=)	not specified [RCV004783293]	likely benign	X	50635491	50635491	Human		name
597720039	CV3598996	single nucleotide variant	NM_020717.5(SHROOM4):c.76A>G (p.Lys26Glu)	not specified [RCV004861939]	uncertain significance	X	50813943	50813943	Human		name
13213636	CV430829	single nucleotide variant	NM_020717.5(SHROOM4):c.316C>T (p.Leu106=)	not specified [RCV000500258]	uncertain significance	X	50638262	50638262	Human		name
13214065	CV430830	single nucleotide variant	NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter)	not specified [RCV000500798]	likely benign\|conflicting interpretations of pathogenicity	X	50813989	50813989	Human		name
150521292	CV1289048	single nucleotide variant	NM_020717.5(SHROOM4):c.2481C>T (p.Asp827=)	SHROOM4-related disorder [RCV003948699]\|not provided [RCV001725812]	likely benign	X	50633592	50633592	Human		name , trait , alternate_id
152999693	CV1683264	single nucleotide variant	NM_020717.5(SHROOM4):c.2631T>C (p.Cys877=)	See cases [RCV002252448]	uncertain significance	X	50633442	50633442	Human		name
153346260	CV1691044	single nucleotide variant	NM_020717.5(SHROOM4):c.239C>T (p.Ser80Phe)	not specified [RCV002271945]	uncertain significance	X	50695816	50695816	Human		name
10408458	CV209089	single nucleotide variant	NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys)	not provided [RCV001572841]\|not specified [RCV000194219]	benign\|likely benign	X	50695789	50695789	Human		name
10408324	CV209090	single nucleotide variant	NM_020717.5(SHROOM4):c.245G>A (p.Arg82Gln)	not specified [RCV000193182]	uncertain significance	X	50695810	50695810	Human		name
156199921	CV2237629	single nucleotide variant	NM_020717.5(SHROOM4):c.277G>A (p.Ala93Thr)	not specified [RCV004106560]	uncertain significance	X	50638301	50638301	Human		name
156188543	CV2292553	single nucleotide variant	NM_020717.5(SHROOM4):c.287G>A (p.Ser96Asn)	not specified [RCV004150324]	uncertain significance	X	50638291	50638291	Human		name
401860675	CV2758571	single nucleotide variant	NM_020717.5(SHROOM4):c.293C>T (p.Pro98Leu)	not specified [RCV004337658]	uncertain significance	X	50638285	50638285	Human		name
405267033	CV3186755	single nucleotide variant	NM_020717.5(SHROOM4):c.1686G>A (p.Glu562=)	not provided [RCV003886836]	likely benign	X	50634387	50634387	Human		name
405282183	CV3216287	single nucleotide variant	NM_020717.5(SHROOM4):c.2502C>T (p.Asp834=)	SHROOM4-related disorder [RCV003956797]	benign	X	50633571	50633571	Human		name , trait , alternate_id
405748508	CV3311311	single nucleotide variant	NM_020717.5(SHROOM4):c.181A>G (p.Ile61Val)	not specified [RCV004453423]	uncertain significance	X	50695874	50695874	Human		name
405748517	CV3311312	single nucleotide variant	NM_020717.5(SHROOM4):c.211C>A (p.Gln71Lys)	not specified [RCV004453424]	uncertain significance	X	50695844	50695844	Human		name
405748560	CV3311318	single nucleotide variant	NM_020717.5(SHROOM4):c.283G>C (p.Val95Leu)	not specified [RCV004453430]	uncertain significance	X	50638295	50638295	Human		name
598256554	CV3914363	single nucleotide variant	NM_020717.5(SHROOM4):c.242T>C (p.Phe81Ser)	not specified [RCV005279034]	uncertain significance	X	50695813	50695813	Human		name
15163715	CV706265	single nucleotide variant	NM_020717.5(SHROOM4):c.2172T>G (p.Gly724=)	not provided [RCV000948156]	likely benign	X	50633901	50633901	Human		name
8642881	CV101865	single nucleotide variant	NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=)	SHROOM4-related disorder [RCV003974984]\|not provided [RCV004713256]\|not specified [RCV000082023]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	50607974	50607974	Human		name , trait , alternate_id
8642884	CV101868	single nucleotide variant	NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=)	SHROOM4-related disorder [RCV003974985]\|not provided [RCV004713257]\|not specified [RCV000082026]	benign	X	50607728	50607728	Human		name , trait , alternate_id
8642885	CV101869	single nucleotide variant	NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)	X-linked intellectual disability, Stocco dos Santos type [RCV001807031]\|not provided [RCV004713258]\|not specified [RCV000082027]	benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	X	50607674	50607674	Human	1	name
126747371	CV1019013	single nucleotide variant	NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys)	X-linked intellectual disability, Stocco dos Santos type [RCV001331135]\|not specified [RCV004035711]	uncertain significance	X	50635298	50635298	Human	1	name
126747367	CV1019014	single nucleotide variant	NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys)	X-linked intellectual disability, Stocco dos Santos type [RCV001331134]\|not specified [RCV004857786]	uncertain significance	X	50635349	50635349	Human	1	name
151353832	CV1327384	single nucleotide variant	NM_020717.5(SHROOM4):c.917C>T (p.Pro306Leu)	not specified [RCV001817328]	uncertain significance	X	50635156	50635156	Human		name
151353861	CV1327413	single nucleotide variant	NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln)	not specified [RCV001817357]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	50635636	50635636	Human		name
8660690	CV135760	single nucleotide variant	NM_020717.5(SHROOM4):c.439C>T (p.His147Tyr)	not provided [RCV000955611]\|not specified [RCV000118351]	benign\|likely benign	X	50635634	50635634	Human		name
155643570	CV1668084	single nucleotide variant	NM_020717.5(SHROOM4):c.940G>A (p.Glu314Lys)	X-linked intellectual disability, Stocco dos Santos type [RCV002287903]	uncertain significance	X	50635133	50635133	Human	1	name
153305621	CV1687728	single nucleotide variant	NM_020717.5(SHROOM4):c.4281C>T (p.His1427=)	not provided [RCV002263549]	likely benign	X	50596896	50596896	Human		name
153349265	CV1694132	single nucleotide variant	NM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser)	X-linked intellectual disability, Stocco dos Santos type [RCV002275657]	uncertain significance	X	50635394	50635394	Human	1	name
155663850	CV1785829	single nucleotide variant	NM_020717.5(SHROOM4):c.3384G>A (p.Gln1128=)	not specified [RCV004047879]	benign	X	50607758	50607758	Human		name
155797098	CV1860147	single nucleotide variant	NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)	X-linked intellectual disability, Stocco dos Santos type [RCV002466788]\|not specified [RCV004067557]	uncertain significance	X	50638194	50638194	Human	1	name
10052211	CV194487	single nucleotide variant	NM_020717.5(SHROOM4):c.770G>A (p.Arg257His)	not provided [RCV000178326]	uncertain significance	X	50635303	50635303	Human		name
10052212	CV194488	single nucleotide variant	NM_020717.5(SHROOM4):c.839G>A (p.Arg280Gln)	not provided [RCV000964097]\|not specified [RCV000178327]	benign	X	50635234	50635234	Human		name
10052837	CV195401	single nucleotide variant	NM_020717.5(SHROOM4):c.3390A>G (p.Gln1130=)	not provided [RCV000179513]	uncertain significance	X	50607752	50607752	Human		name
10408475	CV209088	single nucleotide variant	NM_020717.5(SHROOM4):c.731A>G (p.Asn244Ser)	not specified [RCV000194351]	likely benign	X	50635342	50635342	Human		name
243050203	CV2415414	single nucleotide variant	NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)	X-linked intellectual disability, Stocco dos Santos type [RCV003147946]	uncertain significance	X	50638252	50638252	Human	1	name
329362306	CV2444585	single nucleotide variant	NM_020717.5(SHROOM4):c.425G>A (p.Cys142Tyr)	SHROOM4-related disorder [RCV005399288]\|not specified [RCV004256808]	likely benign\|uncertain significance	X	50635648	50635648	Human		name , trait , alternate_id
329360429	CV2458736	single nucleotide variant	NM_020717.5(SHROOM4):c.526C>T (p.Pro176Ser)	not specified [RCV004268387]	uncertain significance	X	50635547	50635547	Human		name
11637967	CV266789	single nucleotide variant	NM_020717.5(SHROOM4):c.547C>G (p.Pro183Ala)	not provided [RCV000295000]	uncertain significance	X	50635526	50635526	Human		name
401887550	CV2772008	single nucleotide variant	NM_020717.5(SHROOM4):c.763T>A (p.Ser255Thr)	not specified [RCV004344687]	uncertain significance	X	50635310	50635310	Human		name
401927032	CV2828947	single nucleotide variant	NM_020717.5(SHROOM4):c.4065C>T (p.Ala1355=)	not provided [RCV003438328]	likely benign	X	50598413	50598413	Human		name
401927033	CV2828948	single nucleotide variant	NM_020717.5(SHROOM4):c.4065C>A (p.Ala1355=)	not provided [RCV003438329]	likely benign	X	50598413	50598413	Human		name
401927037	CV2828951	single nucleotide variant	NM_020717.5(SHROOM4):c.3756C>T (p.Ser1252=)	not provided [RCV003438332]	likely benign	X	50607386	50607386	Human		name
401927038	CV2828952	single nucleotide variant	NM_020717.5(SHROOM4):c.3498A>G (p.Ser1166=)	not provided [RCV003438333]	likely benign	X	50607644	50607644	Human		name
404993587	CV2851010	single nucleotide variant	NM_020717.5(SHROOM4):c.384G>A (p.Trp128Ter)	not provided [RCV003491481]	uncertain significance	X	50638194	50638194	Human		name
405269789	CV3187488	single nucleotide variant	NM_020717.5(SHROOM4):c.763T>G (p.Ser255Ala)	not provided [RCV003887572]	uncertain significance	X	50635310	50635310	Human		name
405291552	CV3205844	single nucleotide variant	NM_020717.5(SHROOM4):c.4110G>A (p.Gly1370=)	SHROOM4-related disorder [RCV003963966]	likely benign	X	50598368	50598368	Human		name , trait , alternate_id
405293608	CV3214350	single nucleotide variant	NM_020717.5(SHROOM4):c.689G>A (p.Arg230Gln)	SHROOM4-related disorder [RCV003932042]	benign	X	50635384	50635384	Human		name , trait , alternate_id
405265609	CV3220775	single nucleotide variant	NM_020717.5(SHROOM4):c.3034T>C (p.Leu1012=)	SHROOM4-related disorder [RCV003968956]	likely benign	X	50608108	50608108	Human		name , trait , alternate_id
405748588	CV3311322	single nucleotide variant	NM_020717.5(SHROOM4):c.503C>T (p.Ala168Val)	not specified [RCV004453434]	uncertain significance	X	50635570	50635570	Human		name
405748597	CV3311323	single nucleotide variant	NM_020717.5(SHROOM4):c.514A>G (p.Ser172Gly)	not specified [RCV004453435]	likely benign	X	50635559	50635559	Human		name
405748603	CV3311324	single nucleotide variant	NM_020717.5(SHROOM4):c.533A>G (p.Asp178Gly)	not specified [RCV004453436]	uncertain significance	X	50635540	50635540	Human		name
405748610	CV3311325	single nucleotide variant	NM_020717.5(SHROOM4):c.725G>A (p.Arg242His)	not specified [RCV004453437]	uncertain significance	X	50635348	50635348	Human		name
407572712	CV3497200	single nucleotide variant	NM_020717.5(SHROOM4):c.775C>T (p.Gln259Ter)	not provided [RCV004699020]	uncertain significance	X	50635298	50635298	Human		name
408380579	CV3501207	single nucleotide variant	NM_020717.5(SHROOM4):c.3951T>A (p.Leu1317=)	not provided [RCV004727296]	likely benign	X	50598527	50598527	Human		name
408375093	CV3509561	single nucleotide variant	NM_020717.5(SHROOM4):c.3276C>T (p.Leu1092=)	SHROOM4-related disorder [RCV004747738]	likely benign	X	50607866	50607866	Human		name , trait , alternate_id
597719844	CV3598976	single nucleotide variant	NM_020717.5(SHROOM4):c.748C>G (p.Pro250Ala)	not specified [RCV004861919]	uncertain significance	X	50635325	50635325	Human		name
597719872	CV3598979	single nucleotide variant	NM_020717.5(SHROOM4):c.527C>G (p.Pro176Arg)	not specified [RCV004861922]	uncertain significance	X	50635546	50635546	Human		name
597719997	CV3598992	single nucleotide variant	NM_020717.5(SHROOM4):c.886C>T (p.Arg296Cys)	not specified [RCV004861935]	uncertain significance	X	50635187	50635187	Human		name
597720019	CV3598994	single nucleotide variant	NM_020717.5(SHROOM4):c.641C>T (p.Thr214Ile)	not specified [RCV004861937]	uncertain significance	X	50635432	50635432	Human		name
598126107	CV3881777	single nucleotide variant	NM_020717.5(SHROOM4):c.721C>T (p.Arg241Trp)	not provided [RCV005233328]	uncertain significance	X	50635352	50635352	Human		name
598256511	CV3914354	single nucleotide variant	NM_020717.5(SHROOM4):c.451G>A (p.Glu151Lys)	not specified [RCV005279025]	uncertain significance	X	50635622	50635622	Human		name
598256569	CV3914366	single nucleotide variant	NM_020717.5(SHROOM4):c.518A>T (p.His173Leu)	not specified [RCV005279037]	uncertain significance	X	50635555	50635555	Human		name
12892623	CV404640	single nucleotide variant	NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)	SHROOM4-related disorder [RCV003932775]\|X-linked intellectual disability, Stocco dos Santos type [RCV000477701]\|not provided [RCV000514889]	pathogenic\|likely benign\|uncertain significance	X	50635637	50635637	Human	1	name , trait , alternate_id
12901011	CV411405	single nucleotide variant	NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys)	not provided [RCV000483678]	conflicting interpretations of pathogenicity\|uncertain significance	X	50635304	50635304	Human		name
13830828	CV580792	single nucleotide variant	NM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=)	History of neurodevelopmental disorder [RCV000721065]\|not provided [RCV000965522]	likely benign	X	50607638	50607638	Human		name
13830831	CV581036	single nucleotide variant	NM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys)	History of neurodevelopmental disorder [RCV000721070]	uncertain significance	X	50635564	50635564	Human		name
13833188	CV584416	single nucleotide variant	NM_020717.5(SHROOM4):c.325G>A (p.Gly109Arg)	not provided [RCV000728365]	uncertain significance	X	50638253	50638253	Human		name
34891326	CV904731	single nucleotide variant	NM_020717.5(SHROOM4):c.3033C>T (p.Asp1011=)	not provided [RCV001172007]	likely benign	X	50608109	50608109	Human		name
126733424	CV1001276	single nucleotide variant	NM_020717.5(SHROOM4):c.1913C>G (p.Ser638Cys)	not provided [RCV001311076]	likely benign	X	50634160	50634160	Human		name
8642880	CV101864	single nucleotide variant	NM_020717.5(SHROOM4):c.1100T>C (p.Val367Ala)	not provided [RCV000082022]	uncertain significance	X	50634973	50634973	Human		name
126747361	CV1019009	single nucleotide variant	NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile)	X-linked intellectual disability, Stocco dos Santos type [RCV001331132]	uncertain significance	X	50633554	50633554	Human	1	name
126747357	CV1019010	single nucleotide variant	NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala)	X-linked intellectual disability, Stocco dos Santos type [RCV001331131]	uncertain significance	X	50634214	50634214	Human	1	name
126747355	CV1019011	single nucleotide variant	NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe)	X-linked intellectual disability, Stocco dos Santos type [RCV001331130]	uncertain significance	X	50634484	50634484	Human	1	name
126747349	CV1019012	single nucleotide variant	NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly)	X-linked intellectual disability, Stocco dos Santos type [RCV001331129]	uncertain significance	X	50634916	50634916	Human	1	name
126912034	CV1038893	single nucleotide variant	NM_020717.5(SHROOM4):c.2453G>A (p.Cys818Tyr)	not specified [RCV001356063]	benign\|likely benign	X	50633620	50633620	Human		name
150409801	CV1196377	single nucleotide variant	NM_020717.5(SHROOM4):c.1972A>G (p.Met658Val)	not provided [RCV001572799]\|not specified [RCV001726587]	benign\|likely benign	X	50634101	50634101	Human		name
150521288	CV1289047	single nucleotide variant	NM_020717.5(SHROOM4):c.2891T>G (p.Val964Gly)	not provided [RCV001725811]	uncertain significance	X	50633182	50633182	Human		name
151234434	CV1320923	single nucleotide variant	NM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp)	X-linked intellectual disability, Stocco dos Santos type [RCV001801275]	uncertain significance	X	50634613	50634613	Human	1	name
151662882	CV1333519	single nucleotide variant	NM_020717.5(SHROOM4):c.1442A>G (p.Asp481Gly)	not provided [RCV001837711]	likely benign	X	50634631	50634631	Human		name
151663389	CV1333922	single nucleotide variant	NM_020717.5(SHROOM4):c.1214C>A (p.Pro405His)	X-linked intellectual disability, Stocco dos Santos type [RCV001839097]\|not specified [RCV004857813]	uncertain significance	X	50634859	50634859	Human	1	name
151663610	CV1334076	single nucleotide variant	NM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr)	X-linked intellectual disability, Stocco dos Santos type [RCV001839250]	uncertain significance	X	50634625	50634625	Human	1	name
8660683	CV135753	duplication	NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs)	not provided [RCV001573995]\|not specified [RCV001727577]	benign\|likely benign\|uncertain significance	X	50607726	50607727	Human		name
8660684	CV135754	single nucleotide variant	NM_020717.5(SHROOM4):c.1627A>T (p.Thr543Ser)	not provided [RCV000955610]\|not specified [RCV000118345]	benign\|likely benign	X	50634446	50634446	Human		name
8660685	CV135755	single nucleotide variant	NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser)	History of neurodevelopmental disorder [RCV000720972]\|not provided [RCV001573621]\|not specified [RCV000118346]	likely benign\|uncertain significance	X	50634194	50634194	Human		name
152103914	CV1667543	single nucleotide variant	NM_020717.5(SHROOM4):c.1946C>T (p.Pro649Leu)	not provided [RCV002214531]	uncertain significance	X	50634127	50634127	Human		name
153345862	CV1691487	single nucleotide variant	NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu)	X-linked intellectual disability, Stocco dos Santos type [RCV002272970]	uncertain significance	X	50633633	50633633	Human	1	name
155731738	CV1826025	single nucleotide variant	NM_020717.5(SHROOM4):c.1288G>T (p.Gly430Cys)	not specified [RCV004057787]	benign	X	50634785	50634785	Human		name
155707590	CV1833444	single nucleotide variant	NM_020717.5(SHROOM4):c.1541G>T (p.Arg514Ile)	not provided [RCV003439015]\|not specified [RCV004059023]	benign\|likely benign	X	50634532	50634532	Human		name
155663905	CV1852888	single nucleotide variant	NM_020717.5(SHROOM4):c.2821C>T (p.Pro941Ser)	SHROOM4-related disorder [RCV003971300]\|not specified [RCV004062320]	benign	X	50633252	50633252	Human		name , trait , alternate_id
10052210	CV194486	single nucleotide variant	NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)	X-linked intellectual disability, Stocco dos Santos type [RCV000613790]\|not provided [RCV001726023]\|not specified [RCV000178325]	benign\|likely benign	X	50633881	50633881	Human	1	name
155918315	CV2195850	single nucleotide variant	NM_020717.5(SHROOM4):c.2480A>G (p.Asp827Gly)	not specified [RCV004076191]	uncertain significance	X	50633593	50633593	Human		name
156250825	CV2215699	single nucleotide variant	NM_020717.5(SHROOM4):c.2468G>A (p.Arg823His)	not specified [RCV004091226]	uncertain significance	X	50633605	50633605	Human		name
156173350	CV2247593	single nucleotide variant	NM_020717.5(SHROOM4):c.1516G>A (p.Glu506Lys)	not specified [RCV004108893]	uncertain significance	X	50634557	50634557	Human		name
155994921	CV2249365	single nucleotide variant	NM_020717.5(SHROOM4):c.2007C>A (p.Ser669Arg)	not specified [RCV004118377]	uncertain significance	X	50634066	50634066	Human		name
156075058	CV2273216	single nucleotide variant	NM_020717.5(SHROOM4):c.1382G>T (p.Cys461Phe)	not specified [RCV004132014]	uncertain significance	X	50634691	50634691	Human		name
155949026	CV2273599	single nucleotide variant	NM_020717.5(SHROOM4):c.2917A>G (p.Asn973Asp)	not specified [RCV004134118]	uncertain significance	X	50627654	50627654	Human		name
155928936	CV2281325	single nucleotide variant	NM_020717.5(SHROOM4):c.1778G>A (p.Arg593His)	not specified [RCV004147554]	uncertain significance	X	50634295	50634295	Human		name
155941258	CV2294221	single nucleotide variant	NM_020717.5(SHROOM4):c.2231G>C (p.Gly744Ala)	not specified [RCV004149575]	uncertain significance	X	50633842	50633842	Human		name
156276129	CV2316512	single nucleotide variant	NM_020717.5(SHROOM4):c.1154A>G (p.Asn385Ser)	not specified [RCV004169981]	uncertain significance	X	50634919	50634919	Human		name
156056568	CV2320627	single nucleotide variant	NM_020717.5(SHROOM4):c.2713T>C (p.Ser905Pro)	not specified [RCV004172242]	uncertain significance	X	50633360	50633360	Human		name
156193860	CV2322002	single nucleotide variant	NM_020717.5(SHROOM4):c.1933A>C (p.Lys645Gln)	not specified [RCV004173759]	uncertain significance	X	50634140	50634140	Human		name
155937792	CV2373831	single nucleotide variant	NM_020717.5(SHROOM4):c.1693C>T (p.Arg565Trp)	not specified [RCV004224767]	uncertain significance	X	50634380	50634380	Human		name
329379463	CV2456130	single nucleotide variant	NM_020717.5(SHROOM4):c.2615G>T (p.Cys872Phe)	not specified [RCV004273326]	uncertain significance	X	50633458	50633458	Human		name
329368145	CV2457066	single nucleotide variant	NM_020717.5(SHROOM4):c.2712T>G (p.Cys904Trp)	not specified [RCV004264851]	uncertain significance	X	50633361	50633361	Human		name
329395681	CV2462930	single nucleotide variant	NM_020717.5(SHROOM4):c.2876C>T (p.Pro959Leu)	not specified [RCV004272769]	uncertain significance	X	50633197	50633197	Human		name
329398505	CV2471128	single nucleotide variant	NM_020717.5(SHROOM4):c.1993T>C (p.Ser665Pro)	not specified [RCV004278381]	uncertain significance	X	50634080	50634080	Human		name
401738750	CV2676364	single nucleotide variant	NM_020717.5(SHROOM4):c.1135G>A (p.Val379Met)	not specified [RCV004286390]	likely benign	X	50634938	50634938	Human		name
401782453	CV2686867	single nucleotide variant	NM_020717.5(SHROOM4):c.2051G>A (p.Arg684Gln)	not specified [RCV004302045]	likely benign	X	50634022	50634022	Human		name
401735186	CV2699192	single nucleotide variant	NM_020717.5(SHROOM4):c.2628C>G (p.His876Gln)	not specified [RCV004303687]	uncertain significance	X	50633445	50633445	Human		name
401918894	CV2794693	single nucleotide variant	NM_020717.5(SHROOM4):c.1628C>T (p.Thr543Ile)	not specified [RCV003388367]	uncertain significance	X	50634445	50634445	Human		name
401913986	CV2799170	single nucleotide variant	NM_020717.5(SHROOM4):c.2422G>A (p.Asp808Asn)	SHROOM4-related disorder [RCV003400312]	uncertain significance	X	50633651	50633651	Human		name , trait , alternate_id
401914390	CV2799261	single nucleotide variant	NM_020717.5(SHROOM4):c.1745G>A (p.Arg582Gln)	SHROOM4-related disorder [RCV003400379]	uncertain significance	X	50634328	50634328	Human		name , trait , alternate_id
401934630	CV2800427	single nucleotide variant	NM_020717.5(SHROOM4):c.1970G>A (p.Ser657Asn)	SHROOM4-related disorder [RCV003411981]	uncertain significance	X	50634103	50634103	Human		name , trait , alternate_id
401933337	CV2804047	single nucleotide variant	NM_020717.5(SHROOM4):c.1568C>A (p.Ala523Asp)	SHROOM4-related disorder [RCV003392811]\|not specified [RCV004857969]	uncertain significance	X	50634505	50634505	Human		name , trait , alternate_id
401927040	CV2828953	single nucleotide variant	NM_020717.5(SHROOM4):c.2441T>C (p.Met814Thr)	not provided [RCV003438334]	likely benign\|uncertain significance	X	50633632	50633632	Human		name
401927041	CV2828954	single nucleotide variant	NM_020717.5(SHROOM4):c.1201C>T (p.His401Tyr)	not provided [RCV003438335]	likely benign	X	50634872	50634872	Human		name
401927043	CV2828955	single nucleotide variant	NM_020717.5(SHROOM4):c.1145A>G (p.Asn382Ser)	not provided [RCV003438336]	likely benign	X	50634928	50634928	Human		name
401944945	CV2840752	single nucleotide variant	NM_020717.5(SHROOM4):c.2137G>A (p.Glu713Lys)	not provided [RCV003457600]	uncertain significance	X	50633936	50633936	Human		name
404993579	CV2851009	single nucleotide variant	NM_020717.5(SHROOM4):c.1747C>T (p.Arg583Trp)	not provided [RCV003491480]	uncertain significance	X	50634326	50634326	Human		name
404993619	CV2851015	single nucleotide variant	NM_020717.5(SHROOM4):c.2906G>A (p.Gly969Glu)	not provided [RCV003491486]	uncertain significance	X	50627665	50627665	Human		name
404993635	CV2851017	single nucleotide variant	NM_020717.5(SHROOM4):c.1744C>T (p.Arg582Trp)	not provided [RCV003491488]	uncertain significance	X	50634329	50634329	Human		name
405191078	CV2988154	single nucleotide variant	NM_020717.5(SHROOM4):c.1738C>G (p.Gln580Glu)	not provided [RCV003706467]	uncertain significance	X	50634335	50634335	Human		name
405259237	CV3194645	single nucleotide variant	NM_020717.5(SHROOM4):c.2874A>C (p.Lys958Asn)	SHROOM4-related disorder [RCV003894039]	likely benign	X	50633199	50633199	Human		name , trait , alternate_id
405277768	CV3196133	single nucleotide variant	NM_020717.5(SHROOM4):c.2867C>G (p.Thr956Ser)	SHROOM4-related disorder [RCV003904650]	likely benign	X	50633206	50633206	Human		name , trait , alternate_id
405266740	CV3202078	single nucleotide variant	NM_020717.5(SHROOM4):c.2750T>G (p.Met917Arg)	SHROOM4-related disorder [RCV003911559]	uncertain significance	X	50633323	50633323	Human		name , trait , alternate_id
405291651	CV3205970	single nucleotide variant	NM_020717.5(SHROOM4):c.2339G>A (p.Ser780Asn)	SHROOM4-related disorder [RCV003964070]	likely benign	X	50633734	50633734	Human		name , trait , alternate_id
405266373	CV3213084	single nucleotide variant	NM_020717.5(SHROOM4):c.2173C>T (p.His725Tyr)	SHROOM4-related disorder [RCV003969248]	likely benign	X	50633900	50633900	Human		name , trait , alternate_id
405289827	CV3213948	single nucleotide variant	NM_020717.5(SHROOM4):c.1387C>A (p.Pro463Thr)	SHROOM4-related disorder [RCV003926801]	benign	X	50634686	50634686	Human		name , trait , alternate_id
405293550	CV3214279	single nucleotide variant	NM_020717.5(SHROOM4):c.2416C>T (p.Pro806Ser)	SHROOM4-related disorder [RCV003931980]	benign	X	50633657	50633657	Human		name , trait , alternate_id
405748468	CV3311305	single nucleotide variant	NM_020717.5(SHROOM4):c.1129T>C (p.Ser377Pro)	not specified [RCV004453417]	uncertain significance	X	50634944	50634944	Human		name
405748475	CV3311306	single nucleotide variant	NM_020717.5(SHROOM4):c.1394G>T (p.Gly465Val)	not specified [RCV004453418]	uncertain significance	X	50634679	50634679	Human		name
405748482	CV3311307	single nucleotide variant	NM_020717.5(SHROOM4):c.1402C>G (p.His468Asp)	not specified [RCV004453419]	uncertain significance	X	50634671	50634671	Human		name
405748496	CV3311309	single nucleotide variant	NM_020717.5(SHROOM4):c.1694G>A (p.Arg565Gln)	not specified [RCV004453421]	uncertain significance	X	50634379	50634379	Human		name
405748503	CV3311310	single nucleotide variant	NM_020717.5(SHROOM4):c.1752G>C (p.Lys584Asn)	not specified [RCV004453422]	uncertain significance	X	50634321	50634321	Human		name
405748524	CV3311313	single nucleotide variant	NM_020717.5(SHROOM4):c.2478G>A (p.Met826Ile)	not specified [RCV004453425]	uncertain significance	X	50633595	50633595	Human		name
405748532	CV3311314	single nucleotide variant	NM_020717.5(SHROOM4):c.2545C>A (p.Pro849Thr)	not specified [RCV004453426]	uncertain significance	X	50633528	50633528	Human		name
405748540	CV3311315	single nucleotide variant	NM_020717.5(SHROOM4):c.2629T>C (p.Cys877Arg)	not specified [RCV004453427]	uncertain significance	X	50633444	50633444	Human		name
405748545	CV3311316	single nucleotide variant	NM_020717.5(SHROOM4):c.2755C>T (p.Pro919Ser)	not specified [RCV004453428]	uncertain significance	X	50633318	50633318	Human		name
405748552	CV3311317	single nucleotide variant	NM_020717.5(SHROOM4):c.2779C>T (p.His927Tyr)	not specified [RCV004453429]	uncertain significance	X	50633294	50633294	Human		name
405748568	CV3311319	single nucleotide variant	NM_020717.5(SHROOM4):c.2878A>G (p.Arg960Gly)	not specified [RCV004453431]	uncertain significance	X	50633195	50633195	Human		name
405872115	CV3398238	single nucleotide variant	NM_020717.5(SHROOM4):c.2839G>A (p.Glu947Lys)	not provided [RCV004575239]	uncertain significance	X	50633234	50633234	Human		name
407501439	CV3480638	single nucleotide variant	NM_020717.5(SHROOM4):c.2354C>A (p.Ser785Tyr)	not specified [RCV004669766]	uncertain significance	X	50633719	50633719	Human		name
407501450	CV3480640	single nucleotide variant	NM_020717.5(SHROOM4):c.1699G>A (p.Gly567Ser)	not specified [RCV004669768]	uncertain significance	X	50634374	50634374	Human		name
407501455	CV3480641	single nucleotide variant	NM_020717.5(SHROOM4):c.1956G>T (p.Lys652Asn)	not specified [RCV004669769]	uncertain significance	X	50634117	50634117	Human		name
407519223	CV3480642	single nucleotide variant	NM_020717.5(SHROOM4):c.1449G>T (p.Arg483Ser)	not specified [RCV004676399]	uncertain significance	X	50634624	50634624	Human		name
407519225	CV3480645	single nucleotide variant	NM_020717.5(SHROOM4):c.2453G>T (p.Cys818Phe)	not specified [RCV004676400]	uncertain significance	X	50633620	50633620	Human		name
596921749	CV3535375	single nucleotide variant	NM_020717.5(SHROOM4):c.1298G>A (p.Gly433Glu)	X-linked intellectual disability, Stocco dos Santos type [RCV004784930]	uncertain significance	X	50634775	50634775	Human	1	name
597719891	CV3598981	single nucleotide variant	NM_020717.5(SHROOM4):c.1519A>G (p.Lys507Glu)	not specified [RCV004861924]	uncertain significance	X	50634554	50634554	Human		name
597719899	CV3598982	single nucleotide variant	NM_020717.5(SHROOM4):c.1765G>T (p.Ala589Ser)	not specified [RCV004861925]	uncertain significance	X	50634308	50634308	Human		name
597719908	CV3598983	single nucleotide variant	NM_020717.5(SHROOM4):c.1117T>A (p.Cys373Ser)	not specified [RCV004861926]	uncertain significance	X	50634956	50634956	Human		name
597719917	CV3598984	single nucleotide variant	NM_020717.5(SHROOM4):c.1777C>T (p.Arg593Cys)	not specified [RCV004861927]	uncertain significance	X	50634296	50634296	Human		name
597719949	CV3598987	single nucleotide variant	NM_020717.5(SHROOM4):c.1476A>C (p.Gln492His)	not specified [RCV004861930]	uncertain significance	X	50634597	50634597	Human		name
597719960	CV3598988	single nucleotide variant	NM_020717.5(SHROOM4):c.1160C>T (p.Ala387Val)	not specified [RCV004861931]	uncertain significance	X	50634913	50634913	Human		name
597719968	CV3598989	single nucleotide variant	NM_020717.5(SHROOM4):c.2485T>C (p.Ser829Pro)	not specified [RCV004861932]	uncertain significance	X	50633588	50633588	Human		name
597719988	CV3598991	single nucleotide variant	NM_020717.5(SHROOM4):c.1327C>T (p.His443Tyr)	not specified [RCV004861934]	uncertain significance	X	50634746	50634746	Human		name
597720008	CV3598993	single nucleotide variant	NM_020717.5(SHROOM4):c.2542T>G (p.Ser848Ala)	not specified [RCV004861936]	uncertain significance	X	50633531	50633531	Human		name
597720049	CV3598997	single nucleotide variant	NM_020717.5(SHROOM4):c.2323A>G (p.Lys775Glu)	not specified [RCV004861940]	uncertain significance	X	50633750	50633750	Human		name
598223454	CV3894005	single nucleotide variant	NM_020717.5(SHROOM4):c.2913A>C (p.Lys971Asn)	not provided [RCV005257248]	uncertain significance	X	50627658	50627658	Human		name
598256502	CV3914352	single nucleotide variant	NM_020717.5(SHROOM4):c.2983T>G (p.Phe995Val)	not specified [RCV005279023]	uncertain significance	X	50608159	50608159	Human		name
598256516	CV3914355	single nucleotide variant	NM_020717.5(SHROOM4):c.1135G>C (p.Val379Leu)	not specified [RCV005279026]	uncertain significance	X	50634938	50634938	Human		name
598256521	CV3914356	single nucleotide variant	NM_020717.5(SHROOM4):c.1619G>A (p.Cys540Tyr)	not specified [RCV005279027]	uncertain significance	X	50634454	50634454	Human		name
598256526	CV3914357	single nucleotide variant	NM_020717.5(SHROOM4):c.1543A>T (p.Thr515Ser)	not specified [RCV005279028]	uncertain significance	X	50634530	50634530	Human		name
598256529	CV3914358	single nucleotide variant	NM_020717.5(SHROOM4):c.1387C>T (p.Pro463Ser)	not specified [RCV005279029]	uncertain significance	X	50634686	50634686	Human		name
598256534	CV3914359	single nucleotide variant	NM_020717.5(SHROOM4):c.2683G>A (p.Ala895Thr)	not specified [RCV005279030]	uncertain significance	X	50633390	50633390	Human		name
598256539	CV3914360	single nucleotide variant	NM_020717.5(SHROOM4):c.1577A>G (p.Gln526Arg)	not specified [RCV005279031]	uncertain significance	X	50634496	50634496	Human		name
598256564	CV3914365	single nucleotide variant	NM_020717.5(SHROOM4):c.1027G>A (p.Glu343Lys)	not specified [RCV005279036]	uncertain significance	X	50635046	50635046	Human		name
598177623	CV4008322	single nucleotide variant	NM_020717.5(SHROOM4):c.1935A>T (p.Lys645Asn)	SHROOM4-related disorder [RCV005393840]	likely benign	X	50634138	50634138	Human		name , trait , alternate_id
617150927	CV4021978	single nucleotide variant	NM_020717.5(SHROOM4):c.1649C>T (p.Thr550Ile)	not provided [RCV005426939]	uncertain significance	X	50634424	50634424	Human		name
13215378	CV430827	single nucleotide variant	NM_020717.5(SHROOM4):c.2509T>C (p.Tyr837His)	not specified [RCV000502436]	uncertain significance	X	50633564	50633564	Human		name
13216087	CV430828	single nucleotide variant	NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys)	not provided [RCV000999434]\|not specified [RCV000503302]	likely benign\|uncertain significance	X	50634398	50634398	Human		name
13518513	CV486485	single nucleotide variant	NM_020717.5(SHROOM4):c.2815C>T (p.His939Tyr)	not provided [RCV000584871]	uncertain significance	X	50633258	50633258	Human		name
13518713	CV486486	single nucleotide variant	NM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp)	X-linked intellectual disability, Stocco dos Santos type [RCV002289883]\|not provided [RCV000585042]	uncertain significance	X	50633300	50633300	Human	1	name
13528189	CV508962	single nucleotide variant	NM_020717.5(SHROOM4):c.2165G>A (p.Arg722His)	SHROOM4-related disorder [RCV003932039]	benign\|likely benign	X	50633908	50633908	Human		name , trait , alternate_id
14695832	CV622494	single nucleotide variant	NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile)	X-linked intellectual disability, Stocco dos Santos type [RCV000785007]	uncertain significance	X	50633401	50633401	Human	1	name
14697896	CV623368	single nucleotide variant	NM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys)	X-linked intellectual disability, Stocco dos Santos type [RCV000786918]	uncertain significance	X	50634077	50634077	Human	1	name
15140292	CV717824	single nucleotide variant	NM_020717.5(SHROOM4):c.2497G>A (p.Ala833Thr)	not provided [RCV000966114]\|not specified [RCV004029922]	benign	X	50633576	50633576	Human		name
21070722	CV798331	single nucleotide variant	NM_020717.5(SHROOM4):c.2336A>G (p.Glu779Gly)	not provided [RCV000999433]	uncertain significance	X	50633737	50633737	Human		name
21070727	CV798332	single nucleotide variant	NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg)	not provided [RCV000999435]\|not specified [RCV001819712]	benign\|likely benign	X	50635020	50635020	Human		name
28887056	CV860898	single nucleotide variant	NM_020717.5(SHROOM4):c.1229A>G (p.His410Arg)	not provided [RCV001091933]	uncertain significance	X	50634844	50634844	Human		name
38459526	CV920039	single nucleotide variant	NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr)	X-linked intellectual disability, Stocco dos Santos type [RCV001195911]	uncertain significance	X	50633711	50633711	Human	1	name
38597522	CV963985	single nucleotide variant	NM_020717.5(SHROOM4):c.2335G>A (p.Glu779Lys)	Intellectual disability [RCV001251640]	uncertain significance	X	50633738	50633738	Human	2	name
40815366	CV971214	single nucleotide variant	NM_020717.5(SHROOM4):c.2798G>A (p.Arg933Gln)	X-linked intellectual disability, Stocco dos Santos type [RCV001262700]	likely benign	X	50633275	50633275	Human	1	name
42723679	CV984626	single nucleotide variant	NM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser)	X-linked intellectual disability, Stocco dos Santos type [RCV001291669]	uncertain significance	X	50634908	50634908	Human	1	name
126734501	CV999839	single nucleotide variant	NM_020717.5(SHROOM4):c.1096G>A (p.Ala366Thr)	not provided [RCV001304450]	uncertain significance	X	50634977	50634977	Human		name
8642886	CV101870	single nucleotide variant	NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe)	not provided [RCV000224335]\|not specified [RCV000082028]	benign	X	50598377	50598377	Human		name
126747363	CV1019008	single nucleotide variant	NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His)	X-linked intellectual disability, Stocco dos Santos type [RCV001331133]	uncertain significance	X	50596855	50596855	Human	1	name
126742436	CV1022178	single nucleotide variant	NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln)	X-linked intellectual disability, Stocco dos Santos type [RCV001336506]	uncertain significance	X	50607601	50607601	Human	1	name
151349892	CV1325487	single nucleotide variant	NM_020717.5(SHROOM4):c.3207C>A (p.Ser1069Arg)	not provided [RCV001814773]	uncertain significance	X	50607935	50607935	Human		name
151355960	CV1327143	single nucleotide variant	NM_020717.5(SHROOM4):c.3533A>G (p.Glu1178Gly)	not specified [RCV001822313]	likely benign	X	50607609	50607609	Human		name
8660687	CV135757	single nucleotide variant	NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)	Intellectual disability [RCV001251639]\|not provided [RCV000118348]\|not specified [RCV004019649]	benign\|uncertain significance	X	50607531	50607531	Human	2	name
8660688	CV135758	single nucleotide variant	NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu)	not provided [RCV004713297]\|not specified [RCV000118349]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	50607408	50607408	Human		name
8660689	CV135759	single nucleotide variant	NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)	Intellectual disability [RCV001251638]\|See cases [RCV002251986]\|not provided [RCV000118350]\|not specified [RCV004019650]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	50598534	50598534	Human	2	name
153305616	CV1687727	single nucleotide variant	NM_020717.5(SHROOM4):c.4439A>G (p.Lys1480Arg)	not provided [RCV002263548]	uncertain significance	X	50596738	50596738	Human		name
155265387	CV1704768	single nucleotide variant	NM_020717.5(SHROOM4):c.3919G>A (p.Asp1307Asn)	X-linked intellectual disability, Stocco dos Santos type [RCV002284994]\|not specified [RCV004047581]	pathogenic\|uncertain significance	X	50602656	50602656	Human	1	name
9693343	CV177182	single nucleotide variant	NM_020717.5(SHROOM4):c.3211C>T (p.Arg1071Trp)	not provided [RCV000153950]	uncertain significance	X	50607931	50607931	Human		name
155663869	CV1785835	single nucleotide variant	NM_020717.5(SHROOM4):c.3385A>C (p.Lys1129Gln)	not specified [RCV004047880]	benign	X	50607757	50607757	Human		name
10408387	CV209085	single nucleotide variant	NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile)	SHROOM4-related disorder [RCV003927807]\|not provided [RCV000514408]\|not specified [RCV000193677]	benign\|likely benign\|uncertain significance	X	50598412	50598412	Human		name , trait , alternate_id
10408330	CV209086	single nucleotide variant	NM_020717.5(SHROOM4):c.3140C>G (p.Ala1047Gly)	not specified [RCV000193242]	uncertain significance	X	50608002	50608002	Human		name
156296468	CV2236566	single nucleotide variant	NM_020717.5(SHROOM4):c.4352A>G (p.Tyr1451Cys)	not specified [RCV004110559]	uncertain significance	X	50596825	50596825	Human		name
11059999	CV226993	single nucleotide variant	NM_020717.5(SHROOM4):c.3998G>A (p.Arg1333Gln)	not specified [RCV004822017]	likely benign\|uncertain significance	X	50598480	50598480	Human		name
156284243	CV2334747	single nucleotide variant	NM_020717.5(SHROOM4):c.3308G>A (p.Arg1103His)	not specified [RCV004188725]	uncertain significance	X	50607834	50607834	Human		name
156291294	CV2342863	single nucleotide variant	NM_020717.5(SHROOM4):c.4282G>A (p.Val1428Met)	not specified [RCV004189898]	uncertain significance	X	50596895	50596895	Human		name
156141730	CV2358433	single nucleotide variant	NM_020717.5(SHROOM4):c.3758C>T (p.Ala1253Val)	not specified [RCV004207326]	uncertain significance	X	50607384	50607384	Human		name
11350818	CV237189	single nucleotide variant	NM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile)	History of neurodevelopmental disorder [RCV000720941]\|not provided [RCV000224464]	benign	X	50607995	50607995	Human		name
155940094	CV2386714	single nucleotide variant	NM_020717.5(SHROOM4):c.3277G>A (p.Gly1093Arg)	not specified [RCV004233408]	uncertain significance	X	50607865	50607865	Human		name
156255165	CV2397622	single nucleotide variant	NM_020717.5(SHROOM4):c.3442G>A (p.Glu1148Lys)	not specified [RCV004237075]	uncertain significance	X	50607700	50607700	Human		name
243050710	CV2415561	single nucleotide variant	NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)	X-linked intellectual disability, Stocco dos Santos type [RCV003148159]	uncertain significance	X	50607976	50607976	Human	1	name
329352219	CV2452149	single nucleotide variant	NM_020717.5(SHROOM4):c.4310G>A (p.Gly1437Asp)	not specified [RCV004278863]	uncertain significance	X	50596867	50596867	Human		name
329372499	CV2455241	single nucleotide variant	NM_020717.5(SHROOM4):c.3832A>G (p.Asn1278Asp)	not specified [RCV004274460]	uncertain significance	X	50602743	50602743	Human		name
329394273	CV2469787	single nucleotide variant	NM_020717.5(SHROOM4):c.3939A>T (p.Lys1313Asn)	not specified [RCV004285285]	uncertain significance	X	50602636	50602636	Human		name
8561917	CV25834	single nucleotide variant	NM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu)	X-linked intellectual disability, Stocco dos Santos type [RCV000011542]	pathogenic\|uncertain significance	X	50607876	50607876	Human	1	name
11633065	CV265033	single nucleotide variant	NM_020717.5(SHROOM4):c.3739C>T (p.Gln1247Ter)	not provided [RCV000308203]	pathogenic\|uncertain significance\|no classifications from unflagged records	X	50607403	50607403	Human		name
401721552	CV2710024	single nucleotide variant	NM_020717.5(SHROOM4):c.4109G>A (p.Gly1370Glu)	not specified [RCV004315086]	uncertain significance	X	50598369	50598369	Human		name
401927034	CV2828949	single nucleotide variant	NM_020717.5(SHROOM4):c.4030G>T (p.Ala1344Ser)	not provided [RCV003438330]	uncertain significance	X	50598448	50598448	Human		name
401927036	CV2828950	single nucleotide variant	NM_020717.5(SHROOM4):c.3774G>T (p.Gln1258His)	not provided [RCV003438331]	likely benign	X	50602801	50602801	Human		name
404993596	CV2851011	single nucleotide variant	NM_020717.5(SHROOM4):c.3317C>T (p.Pro1106Leu)	not provided [RCV003491482]	uncertain significance	X	50607825	50607825	Human		name
404993603	CV2851012	single nucleotide variant	NM_020717.5(SHROOM4):c.3160C>T (p.Arg1054Cys)	not provided [RCV003491483]	uncertain significance	X	50607982	50607982	Human		name
404993609	CV2851013	single nucleotide variant	NM_020717.5(SHROOM4):c.3044A>G (p.Tyr1015Cys)	not provided [RCV003491484]	uncertain significance	X	50608098	50608098	Human		name
404993613	CV2851014	single nucleotide variant	NM_020717.5(SHROOM4):c.4201A>C (p.Asn1401His)	not provided [RCV003491485]	uncertain significance	X	50598277	50598277	Human		name
404993627	CV2851016	single nucleotide variant	NM_020717.5(SHROOM4):c.3370C>G (p.Gln1124Glu)	not provided [RCV003491487]	uncertain significance	X	50607772	50607772	Human		name
405748574	CV3311320	single nucleotide variant	NM_020717.5(SHROOM4):c.3237G>C (p.Glu1079Asp)	not specified [RCV004453432]	uncertain significance	X	50607905	50607905	Human		name
405748582	CV3311321	single nucleotide variant	NM_020717.5(SHROOM4):c.3601G>A (p.Val1201Ile)	not specified [RCV004453433]	uncertain significance	X	50607541	50607541	Human		name
405866629	CV3401034	single nucleotide variant	NM_020717.5(SHROOM4):c.4388T>C (p.Ile1463Thr)	X-linked intellectual disability, Stocco dos Santos type [RCV004577150]	uncertain significance	X	50596789	50596789	Human	1	name
407501446	CV3480639	single nucleotide variant	NM_020717.5(SHROOM4):c.3052A>G (p.Ile1018Val)	not specified [RCV004669767]	likely benign	X	50608090	50608090	Human		name
407501460	CV3480643	single nucleotide variant	NM_020717.5(SHROOM4):c.4247G>T (p.Gly1416Val)	not specified [RCV004669770]	uncertain significance	X	50596930	50596930	Human		name
407501465	CV3480644	single nucleotide variant	NM_020717.5(SHROOM4):c.3215C>T (p.Ala1072Val)	not specified [RCV004669771]	uncertain significance	X	50607927	50607927	Human		name
407501593	CV3495612	single nucleotide variant	NM_020717.5(SHROOM4):c.4456C>G (p.Leu1486Val)	not provided [RCV004697452]	uncertain significance	X	50596721	50596721	Human		name
597719827	CV3598974	single nucleotide variant	NM_020717.5(SHROOM4):c.4231A>C (p.Lys1411Gln)	not specified [RCV004861917]	uncertain significance	X	50596946	50596946	Human		name
597719835	CV3598975	single nucleotide variant	NM_020717.5(SHROOM4):c.4084T>C (p.Phe1362Leu)	not specified [RCV004861918]	uncertain significance	X	50598394	50598394	Human		name
597719853	CV3598977	single nucleotide variant	NM_020717.5(SHROOM4):c.4405G>A (p.Glu1469Lys)	not specified [RCV004861920]	uncertain significance	X	50596772	50596772	Human		name
597719864	CV3598978	single nucleotide variant	NM_020717.5(SHROOM4):c.4079A>G (p.Asn1360Ser)	not specified [RCV004861921]	uncertain significance	X	50598399	50598399	Human		name
597719881	CV3598980	single nucleotide variant	NM_020717.5(SHROOM4):c.3580T>C (p.Ser1194Pro)	not specified [RCV004861923]	uncertain significance	X	50607562	50607562	Human		name
597719937	CV3598986	single nucleotide variant	NM_020717.5(SHROOM4):c.3455C>G (p.Ala1152Gly)	not specified [RCV004861929]	uncertain significance	X	50607687	50607687	Human		name
597719979	CV3598990	single nucleotide variant	NM_020717.5(SHROOM4):c.3403G>A (p.Glu1135Lys)	not specified [RCV004861933]	uncertain significance	X	50607739	50607739	Human		name
12836165	CV379436	single nucleotide variant	NM_020717.5(SHROOM4):c.3645C>G (p.Phe1215Leu)	not provided [RCV000422929]	likely benign\|uncertain significance	X	50607497	50607497	Human		name
598256543	CV3914361	single nucleotide variant	NM_020717.5(SHROOM4):c.4126G>A (p.Val1376Ile)	not specified [RCV005279032]	uncertain significance	X	50598352	50598352	Human		name
598256549	CV3914362	single nucleotide variant	NM_020717.5(SHROOM4):c.4476T>G (p.Asn1492Lys)	not specified [RCV005279033]	uncertain significance	X	50596701	50596701	Human		name
598177630	CV4008323	single nucleotide variant	NM_020717.5(SHROOM4):c.3047G>C (p.Arg1016Pro)	SHROOM4-related disorder [RCV005393841]	uncertain significance	X	50608095	50608095	Human		name , trait , alternate_id
616934124	CV4012125	single nucleotide variant	NM_020717.5(SHROOM4):c.4101G>C (p.Leu1367Phe)	not specified [RCV005409159]	uncertain significance	X	50598377	50598377	Human		name
12905504	CV413833	single nucleotide variant	NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)	X-linked intellectual disability, Stocco dos Santos type [RCV001196368]\|not provided [RCV000487580]\|not specified [RCV004023235]	likely benign\|uncertain significance	X	50608038	50608038	Human	1	name
13215271	CV430825	single nucleotide variant	NM_020717.5(SHROOM4):c.4321C>T (p.Arg1441Cys)	not specified [RCV000502309]	uncertain significance	X	50596856	50596856	Human		name
13475370	CV446688	single nucleotide variant	NM_020717.5(SHROOM4):c.4303G>T (p.Val1435Leu)	not provided [RCV000519870]	uncertain significance	X	50596874	50596874	Human		name
13477695	CV446689	single nucleotide variant	NM_020717.5(SHROOM4):c.4114C>A (p.Leu1372Met)	not provided [RCV000520469]\|not specified [RCV004023621]	uncertain significance	X	50598364	50598364	Human		name
13827538	CV578596	single nucleotide variant	NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys)	X-linked intellectual disability, Stocco dos Santos type [RCV000714626]	uncertain significance	X	50598523	50598523	Human	1	name
14702648	CV626299	single nucleotide variant	NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro)	X-linked intellectual disability, Stocco dos Santos type [RCV000791095]	uncertain significance	X	50608071	50608071	Human	1	name
21070714	CV798329	single nucleotide variant	NM_020717.5(SHROOM4):c.4288C>T (p.Arg1430Cys)	not provided [RCV000999431]	likely benign	X	50596889	50596889	Human		name
21070718	CV798330	single nucleotide variant	NM_020717.5(SHROOM4):c.3626C>T (p.Ala1209Val)	SHROOM4-related disorder [RCV003918635]\|not provided [RCV000999432]	likely benign\|uncertain significance	X	50607516	50607516	Human		name , trait , alternate_id
28887045	CV860897	single nucleotide variant	NM_020717.5(SHROOM4):c.3394G>A (p.Glu1132Lys)	not provided [RCV001091932]	uncertain significance	X	50607748	50607748	Human		name
41407595	CV980404	single nucleotide variant	NM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu)	X-linked intellectual disability, Stocco dos Santos type [RCV001280816]	uncertain significance	X	50607968	50607968	Human	1	name
8642883	CV101867	microsatellite	NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)	X-linked intellectual disability, Stocco dos Santos type [RCV001807030]\|not specified [RCV000082025]	benign	X	50607728	50607729	Human		name
598128220	CV3887418	microsatellite	NM_020717.5(SHROOM4):c.3440AGG[4] (p.Glu1151del)	not provided [RCV005243591]	likely benign	X	50607688	50607690	Human		name
13830835	CV580800	microsatellite	NM_020717.5(SHROOM4):c.3393GGA[6] (p.Glu1151del)	SHROOM4-related disorder [RCV003980356]\|not provided [RCV004808867]\|not specified [RCV004026921]	benign\|likely benign	X	50607729	50607731	Human		name , trait , alternate_id
13830841	CV581029	microsatellite	NM_020717.5(SHROOM4):c.3440AGG[6] (p.Glu1151dup)	not specified [RCV004026923]	benign	X	50607687	50607688	Human		name
11655013	CV271708	indel	NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup)	X-linked intellectual disability, Stocco dos Santos type [RCV002494870]\|not specified [RCV000322654]	benign\|likely benign	X	50607728	50607728	Human		name
401927044	CV2828956	deletion	NM_020717.5(SHROOM4):c.6_8del (p.Glu2_Asn3delinsAsp)	not provided [RCV003438337]	uncertain significance	X	50814011	50814013	Human		name
8660686	CV135756	insertion	NM_020717.3(SHROOM4):c.3413_3414insGG (p.Glu1140Lysfs)	not provided [RCV000118347]	uncertain significance	X	50607728	50607729	Human		name
401936118	CV2796263	deletion	NM_020717.5(SHROOM4):c.954_965del (p.Ala319_Pro322del)	SHROOM4-related disorder [RCV003414089]	uncertain significance	X	50635108	50635119	Human		name , trait , alternate_id
8642882	CV101866	duplication	NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)	X-linked intellectual disability, Stocco dos Santos type [RCV001807029]\|not specified [RCV000082024]	benign	X	50607758	50607759	Human	1	name
153305626	CV1687729	duplication	NM_020717.5(SHROOM4):c.3372_3374dup (p.Gln1128_Lys1129insGln)	not provided [RCV002263550]	uncertain significance	X	50607767	50607768	Human		name
408377843	CV3500848	microsatellite	NM_020717.5(SHROOM4):c.3393GGA[9] (p.Glu1151_Ala1152insGluGlu)	not provided [RCV004722498]	likely benign	X	50607728	50607729	Human		name
155664046	CV1785908	insertion	NM_020717.5(SHROOM4):c.3393_3394insCAGAAGCAACAGGAG (p.Gln1131_Glu1132insGlnLysGlnGlnGlu)	not specified [RCV004047905]	benign	X	50607748	50607749	Human		name

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