Gdi1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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130 records found for search term Gdi1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
151349210	CV1324383	single nucleotide variant	NM_001493.3(GDI1):c.45+1G>A	Intellectual disability, X-linked 41 [RCV001808300]	likely pathogenic	X	154437300	154437300	Human	1	name
405270108	CV3185257	single nucleotide variant	NM_001493.2(GDI1):c.-114C>T	not provided [RCV003885821]	likely benign	X	154437141	154437141	Human		name
151355134	CV1328201	single nucleotide variant	NM_001493.3(GDI1):c.991+7C>T	not specified [RCV001819677]	likely benign	X	154441801	154441801	Human		name
8659641	CV134594	single nucleotide variant	NM_001493.3(GDI1):c.154-3C>T	GDI1-related disorder [RCV003925138]\|Inborn genetic diseases [RCV002313884]\|not provided [RCV000949637]\|not specified [RCV000117137]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	154438762	154438762	Human	3	name , trait , alternate_id
8659641	CV134594	single nucleotide variant	NM_001493.3(GDI1):c.154-3C>T	GDI1-related disorder [RCV003925138]\|Inborn genetic diseases [RCV002313884]\|not provided [RCV000949637]\|not specified [RCV000117137]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	154438762	154438763	Human	3	name , trait , alternate_id
401891156	CV2769092	single nucleotide variant	NM_001493.3(GDI1):c.254-3C>T	Inborn genetic diseases [RCV003369301]	uncertain significance	X	154439003	154439003	Human	1	name
12849041	CV363673	single nucleotide variant	NM_001493.3(GDI1):c.46-11C>A	not provided [RCV000423051]	likely benign	X	154438512	154438512	Human		name
616933822	CV4011788	single nucleotide variant	NM_001493.3(GDI1):c.720-6C>A	not specified [RCV005408337]	uncertain significance	X	154441090	154441090	Human		name
13215887	CV430736	single nucleotide variant	NM_001493.3(GDI1):c.587+6G>A	not specified [RCV000503072]	uncertain significance	X	154440145	154440145	Human		name
13532465	CV512625	single nucleotide variant	NM_001493.3(GDI1):c.819+1G>A	Inborn genetic diseases [RCV000624228]	likely pathogenic	X	154441196	154441196	Human	1	name
15156950	CV760876	single nucleotide variant	NM_001493.3(GDI1):c.992-4C>T	not provided [RCV000924766]	benign	X	154442107	154442107	Human		name
153305538	CV1688612	single nucleotide variant	NM_001493.3(GDI1):c.720-16G>A	not specified [RCV002266348]	uncertain significance	X	154441080	154441080	Human		name
405255868	CV3208320	single nucleotide variant	NM_001493.3(GDI1):c.992-10C>T	GDI1-related disorder [RCV003939437]	benign	X	154442101	154442101	Human		name , trait , alternate_id
408384080	CV3525902	single nucleotide variant	NM_001493.3(GDI1):c.1192-8G>C	not specified [RCV004766812]	uncertain significance	X	154442512	154442512	Human		name
39457120	CV965872	single nucleotide variant	NM_001493.3(GDI1):c.1192-5T>C	not specified [RCV001255480]	uncertain significance	X	154442515	154442515	Human		name
598122612	CV3884544	single nucleotide variant	NM_001493.3(GDI1):c.1137-19C>T	not specified [RCV005237236]	likely benign	X	154442355	154442355	Human		name
13214262	CV430738	single nucleotide variant	NM_001493.3(GDI1):c.1191+12G>A	not provided [RCV004691804]\|not specified [RCV000500914]	uncertain significance	X	154442440	154442440	Human		name
596943884	CV3544425	single nucleotide variant	NM_001493.3(GDI1):c.24C>A (p.Ile8=)	not specified [RCV004800905]	likely benign	X	154437278	154437278	Human		name
8659642	CV134595	single nucleotide variant	NM_001493.3(GDI1):c.219T>C (p.Asn73=)	Inborn genetic diseases [RCV002312116]\|Intellectual disability, X-linked 41 [RCV001701506]\|not provided [RCV004713283]\|not specified [RCV000117138]	benign\|likely benign	X	154438830	154438830	Human	5	name
8659642	CV134595	single nucleotide variant	NM_001493.3(GDI1):c.219T>C (p.Asn73=)	Inborn genetic diseases [RCV002312116]\|Intellectual disability, X-linked 41 [RCV001701506]\|not provided [RCV004713283]\|not specified [RCV000117138]	benign\|likely benign	X	154438830	154438831	Human	5	name
401929932	CV2821707	single nucleotide variant	NM_001493.3(GDI1):c.156G>C (p.Leu52=)	not provided [RCV003440058]	likely benign	X	154438767	154438767	Human		name
405260358	CV3204007	single nucleotide variant	NM_001493.3(GDI1):c.195G>T (p.Ser65=)	GDI1-related disorder [RCV003943894]	likely benign	X	154438806	154438806	Human		name , trait , alternate_id
407512628	CV3432940	single nucleotide variant	NM_001493.3(GDI1):c.22A>G (p.Ile8Val)	Inborn genetic diseases [RCV004626862]	uncertain significance	X	154437276	154437276	Human	1	name
13445736	CV438476	single nucleotide variant	NM_001493.3(GDI1):c.117C>T (p.Tyr39=)	not provided [RCV000512794]	uncertain significance	X	154438594	154438594	Human		name
15193940	CV773916	single nucleotide variant	NM_001493.3(GDI1):c.102C>T (p.Asp34=)	not provided [RCV000933501]	likely benign	X	154438579	154438579	Human		name
8659643	CV134596	single nucleotide variant	NM_001493.3(GDI1):c.324C>T (p.Ser108=)	Inborn genetic diseases [RCV002313885]\|Intellectual disability, X-linked 41 [RCV002490795]\|not provided [RCV000950885]\|not specified [RCV000117139]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	154439076	154439076	Human	2	name
155679442	CV1810885	single nucleotide variant	NM_001493.3(GDI1):c.582T>C (p.Thr194=)	Inborn genetic diseases [RCV002353233]	likely benign	X	154440134	154440134	Human	1	name
155728754	CV1813029	single nucleotide variant	NM_001493.3(GDI1):c.729C>T (p.Ala243=)	Inborn genetic diseases [RCV002382723]	likely benign	X	154441105	154441105	Human	1	name
155690192	CV1814633	single nucleotide variant	NM_001493.3(GDI1):c.882T>C (p.Ala294=)	Inborn genetic diseases [RCV002373778]	likely benign	X	154441685	154441685	Human	1	name
10403440	CV208980	single nucleotide variant	NM_001493.3(GDI1):c.696C>T (p.Gly232=)	not provided [RCV000930874]\|not specified [RCV000192523]	benign\|likely benign\|uncertain significance	X	154440483	154440483	Human		name
401929934	CV2821708	single nucleotide variant	NM_001493.3(GDI1):c.558C>T (p.Gly186=)	not provided [RCV003440059]	likely benign	X	154440110	154440110	Human		name
401929938	CV2821710	single nucleotide variant	NM_001493.3(GDI1):c.714T>C (p.Phe238=)	not provided [RCV003440061]	likely benign	X	154440501	154440501	Human		name
408380617	CV3523606	single nucleotide variant	NM_001493.3(GDI1):c.94C>T (p.His32Tyr)	not provided [RCV004766004]	uncertain significance	X	154438571	154438571	Human		name
12834020	CV378005	single nucleotide variant	NM_001493.3(GDI1):c.309G>A (p.Lys103=)	not specified [RCV000419604]	likely benign	X	154439061	154439061	Human		name
617150252	CV4019184	single nucleotide variant	NM_001493.3(GDI1):c.79G>A (p.Gly27Arg)	not provided [RCV005423592]	uncertain significance	X	154438556	154438556	Human		name
13213408	CV430737	single nucleotide variant	NM_001493.3(GDI1):c.804G>T (p.Val268=)	not specified [RCV000499982]	likely benign	X	154441180	154441180	Human		name
13828395	CV581039	single nucleotide variant	NM_001493.3(GDI1):c.570G>A (p.Ala190=)	GDI1-related disorder [RCV003928190]\|Inborn genetic diseases [RCV002312404]\|not provided [RCV000903996]	benign	X	154440122	154440122	Human	2	name , trait , alternate_id
13829698	CV581042	single nucleotide variant	NM_001493.3(GDI1):c.909C>T (p.Ile303=)	Inborn genetic diseases [RCV002318005]	likely benign	X	154441712	154441712	Human	1	name
15153981	CV743241	single nucleotide variant	NM_001493.3(GDI1):c.450C>T (p.Phe150=)	not provided [RCV000901866]	benign	X	154440002	154440002	Human		name
15136717	CV743242	single nucleotide variant	NM_001493.3(GDI1):c.936C>T (p.Asn312=)	not provided [RCV000898675]\|not specified [RCV001818734]	benign\|likely benign	X	154441739	154441739	Human		name
15118508	CV758393	single nucleotide variant	NM_001493.3(GDI1):c.771C>T (p.Asp257=)	not provided [RCV000917987]	benign\|likely benign	X	154441147	154441147	Human		name
15181988	CV773917	single nucleotide variant	NM_001493.3(GDI1):c.645C>T (p.Ser215=)	not provided [RCV000930258]	likely benign	X	154440432	154440432	Human		name
15103714	CV786757	single nucleotide variant	NM_001493.3(GDI1):c.588C>T (p.Asp196=)	Inborn genetic diseases [RCV002354870]\|not provided [RCV000976071]	benign\|likely benign	X	154440375	154440375	Human	1	name
38468220	CV921007	single nucleotide variant	NM_001493.3(GDI1):c.471C>T (p.Thr157=)	not provided [RCV001200557]	likely benign	X	154440023	154440023	Human		name
150405915	CV1178704	single nucleotide variant	NM_001493.3(GDI1):c.103C>T (p.Arg35Trp)	not provided [RCV001545077]	uncertain significance	X	154438580	154438580	Human		name
150532545	CV1293534	single nucleotide variant	NM_001493.3(GDI1):c.119G>T (p.Gly40Val)	not provided [RCV001757811]	uncertain significance	X	154438596	154438596	Human		name
151355955	CV1327138	single nucleotide variant	NM_001493.3(GDI1):c.1122G>A (p.Glu374=)	not specified [RCV001822308]	likely benign	X	154442241	154442241	Human		name
151355135	CV1328202	single nucleotide variant	NM_001493.3(GDI1):c.1212C>T (p.Tyr404=)	Inborn genetic diseases [RCV002359273]\|not specified [RCV001819678]	likely benign	X	154442540	154442540	Human	1	name
152979361	CV1675507	single nucleotide variant	NM_001493.3(GDI1):c.295T>C (p.Tyr99His)	Intellectual disability, X-linked 41 [RCV002244097]	uncertain significance	X	154439047	154439047	Human	1	name
155267848	CV1701403	deletion	NM_001493.3(GDI1):c.706del (p.Gln236fs)	Intellectual disability, X-linked 41 [RCV002283628]	likely pathogenic	X	154440490	154440490	Human	1	name
155673311	CV1825528	single nucleotide variant	NM_001493.3(GDI1):c.1281G>A (p.Thr427=)	Inborn genetic diseases [RCV002387112]	likely benign	X	154442609	154442609	Human	1	name
155670206	CV1832295	single nucleotide variant	NM_001493.3(GDI1):c.1317C>T (p.Asn439=)	Inborn genetic diseases [RCV002385593]	likely benign	X	154442645	154442645	Human	1	name
10049690	CV190796	single nucleotide variant	NM_001493.3(GDI1):c.1167C>T (p.Pro389=)	Inborn genetic diseases [RCV002326951]\|not provided [RCV000173742]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154442404	154442404	Human	1	name
10053412	CV196228	single nucleotide variant	NM_001493.3(GDI1):c.1104G>A (p.Pro368=)	not provided [RCV000180572]	uncertain significance	X	154442223	154442223	Human		name
8562604	CV26665	single nucleotide variant	NM_001493.3(GDI1):c.275T>C (p.Leu92Pro)	Intellectual disability, X-linked 41 [RCV000012392]\|not specified [RCV001797587]	pathogenic\|uncertain significance	X	154439027	154439027	Human	1	name
8562605	CV26666	single nucleotide variant	NM_001493.3(GDI1):c.208C>T (p.Arg70Ter)	Intellectual disability, X-linked 41 [RCV000012393]	pathogenic	X	154438819	154438819	Human	1	name
405785798	CV3258119	single nucleotide variant	NM_001493.3(GDI1):c.130T>G (p.Ser44Ala)	Inborn genetic diseases [RCV004387622]	uncertain significance	X	154438607	154438607	Human	1	name
407426222	CV3409772	single nucleotide variant	NM_001493.3(GDI1):c.1203C>G (p.Ser401=)	not provided [RCV004585704]	likely benign	X	154442531	154442531	Human		name
407427383	CV3410641	single nucleotide variant	NM_001493.3(GDI1):c.176T>C (p.Leu59Pro)	not specified [RCV004586288]	uncertain significance	X	154438787	154438787	Human		name
597679153	CV3687756	single nucleotide variant	NM_001493.3(GDI1):c.1137G>A (p.Lys379=)	Inborn genetic diseases [RCV004982436]	likely benign	X	154442374	154442374	Human	1	name
598219227	CV3970584	deletion	NM_001493.3(GDI1):c.442del (p.Ala148fs)	Inborn genetic diseases [RCV005340264]	pathogenic	X	154439993	154439993	Human	1	name
598219231	CV3970585	single nucleotide variant	NM_001493.3(GDI1):c.231T>G (p.Ile77Met)	Inborn genetic diseases [RCV005340265]\|not provided [RCV005414757]	uncertain significance	X	154438842	154438842	Human	1	name
12900361	CV411201	single nucleotide variant	NM_001493.3(GDI1):c.194C>T (p.Ser65Leu)	not provided [RCV000482246]	uncertain significance	X	154438805	154438805	Human		name
13215913	CV430734	single nucleotide variant	NM_001493.3(GDI1):c.193T>A (p.Ser65Thr)	Intellectual disability, X-linked 41 [RCV004730962]\|not specified [RCV000503006]	likely benign\|uncertain significance	X	154438804	154438804	Human	2	name
13462468	CV438596	single nucleotide variant	NM_001493.3(GDI1):c.226C>G (p.Leu76Val)	Inborn genetic diseases [RCV004975603]\|not provided [RCV000514221]	uncertain significance	X	154438837	154438837	Human	1	name
38597843	CV964584	deletion	NM_001493.3(GDI1):c.788del (p.Gly263fs)	Intellectual disability, X-linked 41 [RCV001253206]	likely pathogenic	X	154441163	154441163	Human	1	name
150548941	CV1293985	single nucleotide variant	NM_001493.3(GDI1):c.710G>T (p.Gly237Val)	not provided [RCV001764825]	uncertain significance	X	154440497	154440497	Human		name
150554150	CV1296542	single nucleotide variant	NM_001493.3(GDI1):c.868C>A (p.Arg290Ser)	not provided [RCV001770779]	uncertain significance	X	154441671	154441671	Human		name
150542574	CV1302641	single nucleotide variant	NM_001493.3(GDI1):c.575A>G (p.Tyr192Cys)	not provided [RCV001761331]	uncertain significance	X	154440127	154440127	Human		name
151235956	CV1319384	single nucleotide variant	NM_001493.3(GDI1):c.578G>A (p.Arg193His)	not provided [RCV001797329]	uncertain significance	X	154440130	154440130	Human		name
151857290	CV1363781	single nucleotide variant	NM_001493.3(GDI1):c.869G>A (p.Arg290His)	not provided [RCV001904842]	uncertain significance	X	154441672	154441672	Human		name
152984245	CV1675189	single nucleotide variant	NM_001493.3(GDI1):c.706C>T (p.Gln236Ter)	Intellectual disability, X-linked 41 [RCV002238601]	likely pathogenic	X	154440493	154440493	Human	1	name
152980116	CV1678414	single nucleotide variant	NM_001493.3(GDI1):c.491A>C (p.Gln164Pro)	Inborn genetic diseases [RCV004047376]\|not specified [RCV002246919]	likely benign\|uncertain significance	X	154440043	154440043	Human	1	name
155267308	CV1696612	single nucleotide variant	NM_001493.3(GDI1):c.602C>T (p.Pro201Leu)	not provided [RCV002281470]	uncertain significance	X	154440389	154440389	Human		name
243059812	CV2412609	single nucleotide variant	NM_001493.3(GDI1):c.518G>A (p.Arg173Gln)	Intellectual disability, X-linked 41 [RCV003135355]	uncertain significance	X	154440070	154440070	Human	1	name
243052249	CV2412610	single nucleotide variant	NM_001493.3(GDI1):c.517C>T (p.Arg173Trp)	Intellectual disability, X-linked 41 [RCV003131008]	uncertain significance	X	154440069	154440069	Human	1	name
329350860	CV2477690	single nucleotide variant	NM_001493.3(GDI1):c.416G>A (p.Arg139His)	not provided [RCV003223802]	uncertain significance	X	154439968	154439968	Human		name
401759567	CV2690943	single nucleotide variant	NM_001493.3(GDI1):c.616G>A (p.Val206Ile)	Inborn genetic diseases [RCV003280203]	likely benign	X	154440403	154440403	Human	1	name
401727501	CV2736339	single nucleotide variant	NM_001493.3(GDI1):c.391C>A (p.Leu131Met)	not provided [RCV003312787]	uncertain significance	X	154439943	154439943	Human		name
401739564	CV2738597	single nucleotide variant	NM_001493.3(GDI1):c.820G>A (p.Val274Met)	not provided [RCV003317991]	uncertain significance	X	154441623	154441623	Human		name
401799094	CV2741670	single nucleotide variant	NM_001493.3(GDI1):c.940G>A (p.Ala314Thr)	not provided [RCV003323078]	uncertain significance	X	154441743	154441743	Human		name
401828944	CV2743359	single nucleotide variant	NM_001493.3(GDI1):c.335A>G (p.Lys112Arg)	Intellectual disability, X-linked 41 [RCV003326201]	uncertain significance	X	154439087	154439087	Human	1	name
401830666	CV2748290	single nucleotide variant	NM_001493.3(GDI1):c.931A>G (p.Thr311Ala)	not provided [RCV003329899]	uncertain significance	X	154441734	154441734	Human		name
401923812	CV2803401	single nucleotide variant	NM_001493.3(GDI1):c.723G>C (p.Leu241Phe)	GDI1-related disorder [RCV003404547]	uncertain significance	X	154441099	154441099	Human		name , trait , alternate_id
401929936	CV2821709	single nucleotide variant	NM_001493.3(GDI1):c.688G>A (p.Gly230Ser)	not provided [RCV003440060]	uncertain significance	X	154440475	154440475	Human		name
401912721	CV2829345	single nucleotide variant	NM_001493.3(GDI1):c.671A>G (p.Tyr224Cys)	Non-syndromic X-linked intellectual disability [RCV003441153]	likely pathogenic	X	154440458	154440458	Human	1	name
405269722	CV3201821	single nucleotide variant	NM_001493.3(GDI1):c.451G>A (p.Asp151Asn)	GDI1-related disorder [RCV003899725]	uncertain significance	X	154440003	154440003	Human		name , trait , alternate_id
405785804	CV3258120	single nucleotide variant	NM_001493.3(GDI1):c.880G>A (p.Ala294Thr)	Inborn genetic diseases [RCV004387623]	uncertain significance	X	154441683	154441683	Human	1	name
405871615	CV3397979	single nucleotide variant	NM_001493.3(GDI1):c.827G>A (p.Arg276His)	Inborn genetic diseases [RCV004634420]\|not provided [RCV004574979]	likely benign\|uncertain significance	X	154441630	154441630	Human	1	name
407426572	CV3411401	single nucleotide variant	NM_001493.3(GDI1):c.511G>A (p.Val171Ile)	not provided [RCV004590578]	uncertain significance	X	154440063	154440063	Human		name
408365476	CV3499950	single nucleotide variant	NM_001493.3(GDI1):c.359C>T (p.Pro120Leu)	Intellectual disability, X-linked 41 [RCV005249714]\|not provided [RCV004721993]	uncertain significance	X	154439111	154439111	Human	1	name
408381585	CV3523915	single nucleotide variant	NM_001493.3(GDI1):c.302A>G (p.Asp101Gly)	not provided [RCV004766313]	uncertain significance	X	154439054	154439054	Human		name
408381775	CV3526596	single nucleotide variant	NM_001493.3(GDI1):c.445A>C (p.Asn149His)	not provided [RCV004771909]	uncertain significance	X	154439997	154439997	Human		name
408387825	CV3527219	single nucleotide variant	NM_001493.3(GDI1):c.620A>C (p.Asn207Thr)	not provided [RCV004773521]	uncertain significance	X	154440407	154440407	Human		name
408389065	CV3529202	single nucleotide variant	NM_001493.3(GDI1):c.797T>C (p.Val266Ala)	Inborn genetic diseases [RCV004981209]\|not provided [RCV004774024]	uncertain significance	X	154441173	154441173	Human	1	name
596922459	CV3537236	single nucleotide variant	NM_001493.3(GDI1):c.963C>G (p.Ile321Met)	not provided [RCV004786232]	uncertain significance	X	154441766	154441766	Human		name
596930864	CV3540340	single nucleotide variant	NM_001493.3(GDI1):c.494C>G (p.Thr165Ser)	Intellectual disability, X-linked 41 [RCV004792328]	uncertain significance	X	154440046	154440046	Human	1	name
596928604	CV3541567	single nucleotide variant	NM_001493.3(GDI1):c.919C>T (p.Pro307Ser)	Intellectual disability, X-linked 41 [RCV004797439]	uncertain significance	X	154441722	154441722	Human	1	name
597683066	CV3687758	single nucleotide variant	NM_001493.3(GDI1):c.577C>T (p.Arg193Cys)	Inborn genetic diseases [RCV004983671]	uncertain significance	X	154440129	154440129	Human	1	name
597679157	CV3687759	single nucleotide variant	NM_001493.3(GDI1):c.724A>T (p.Ser242Cys)	Inborn genetic diseases [RCV004982437]	uncertain significance	X	154441100	154441100	Human	1	name
598215195	CV3890803	single nucleotide variant	NM_001493.3(GDI1):c.337G>T (p.Gly113Trp)	not provided [RCV005251656]	uncertain significance	X	154439089	154439089	Human		name
598238873	CV3893283	single nucleotide variant	NM_001493.3(GDI1):c.960C>G (p.Ile320Met)	not provided [RCV005256016]	uncertain significance	X	154441763	154441763	Human		name
598212012	CV4008996	single nucleotide variant	NM_001493.3(GDI1):c.907A>G (p.Ile303Val)	Intellectual disability, X-linked 41 [RCV005400609]	uncertain significance	X	154441710	154441710	Human	1	name
616939176	CV4015506	single nucleotide variant	NM_001493.3(GDI1):c.733T>C (p.Tyr245His)	not provided [RCV005413018]	uncertain significance	X	154441109	154441109	Human		name
617154236	CV4022591	single nucleotide variant	NM_001493.3(GDI1):c.823G>A (p.Ala275Thr)	not provided [RCV005429948]	uncertain significance	X	154441626	154441626	Human		name
13212127	CV426438	single nucleotide variant	NM_001493.3(GDI1):c.473T>C (p.Phe158Ser)	not provided [RCV000498377]	likely pathogenic	X	154440025	154440025	Human		name
13213465	CV430735	single nucleotide variant	NM_001493.3(GDI1):c.338G>A (p.Gly113Glu)	not specified [RCV000499956]	uncertain significance	X	154439090	154439090	Human		name
13532612	CV512624	single nucleotide variant	NM_001493.3(GDI1):c.412C>T (p.Arg138Trp)	Inborn genetic diseases [RCV000624361]\|not provided [RCV004783821]	uncertain significance	X	154439964	154439964	Human	1	name
13829419	CV580867	single nucleotide variant	NM_001493.3(GDI1):c.383C>G (p.Ala128Gly)	Inborn genetic diseases [RCV002315277]\|not provided [RCV004692208]	likely benign\|uncertain significance	X	154439135	154439135	Human	1	name
13830197	CV581040	single nucleotide variant	NM_001493.3(GDI1):c.865G>C (p.Asp289His)	Inborn genetic diseases [RCV002316815]	uncertain significance	X	154441668	154441668	Human	1	name
40814409	CV969429	single nucleotide variant	NM_001493.3(GDI1):c.578G>T (p.Arg193Leu)	Intellectual disability [RCV001260618]	uncertain significance	X	154440130	154440130	Human	2	name
150540804	CV1298531	single nucleotide variant	NM_001493.3(GDI1):c.1142T>A (p.Val381Glu)	not provided [RCV001760679]	uncertain significance	X	154442379	154442379	Human		name
155747550	CV1849579	single nucleotide variant	NM_001493.3(GDI1):c.1006A>C (p.Met336Leu)	Inborn genetic diseases [RCV002416957]	uncertain significance	X	154442125	154442125	Human	1	name
8562606	CV26667	single nucleotide variant	NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro)	Intellectual disability, X-linked 41 [RCV000012394]	pathogenic	X	154442596	154442596	Human	1	name
401725220	CV2726027	single nucleotide variant	NM_001493.3(GDI1):c.1282G>A (p.Ala428Thr)	Inborn genetic diseases [RCV003268884]\|not provided [RCV003436013]	likely benign\|uncertain significance	X	154442610	154442610	Human	1	name
405785793	CV3258118	single nucleotide variant	NM_001493.3(GDI1):c.1243A>G (p.Asn415Asp)	Inborn genetic diseases [RCV004387621]	uncertain significance	X	154442571	154442571	Human	1	name
407512622	CV3432938	single nucleotide variant	NM_001493.3(GDI1):c.1288G>A (p.Asp430Asn)	Inborn genetic diseases [RCV004626860]	uncertain significance	X	154442616	154442616	Human	1	name
408365471	CV3499945	single nucleotide variant	NM_001493.3(GDI1):c.1267C>T (p.Arg423Cys)	not provided [RCV004721987]	likely pathogenic	X	154442595	154442595	Human		name
408388947	CV3529154	single nucleotide variant	NM_001493.3(GDI1):c.1262A>G (p.Tyr421Cys)	not provided [RCV004773976]	uncertain significance	X	154442590	154442590	Human		name
596926856	CV3530940	single nucleotide variant	NM_001493.3(GDI1):c.1270A>G (p.Met424Val)	not provided [RCV004778525]	uncertain significance	X	154442598	154442598	Human		name
596931209	CV3531542	single nucleotide variant	NM_001493.3(GDI1):c.1268G>A (p.Arg423His)	not provided [RCV004781104]	uncertain significance	X	154442596	154442596	Human		name
597656623	CV3729679	single nucleotide variant	NM_001493.3(GDI1):c.1078A>G (p.Thr360Ala)	Intellectual disability, X-linked 41 [RCV005041712]	uncertain significance	X	154442197	154442197	Human	1	name
12898796	CV411202	single nucleotide variant	NM_001493.3(GDI1):c.1283C>T (p.Ala428Val)	Intellectual disability, X-linked 41 [RCV001197554]\|not provided [RCV000478709]	uncertain significance	X	154442611	154442611	Human	1	name
14691305	CV621996	single nucleotide variant	NM_001493.3(GDI1):c.1237A>G (p.Thr413Ala)	not provided [RCV000782056]	likely benign	X	154442565	154442565	Human		name
15182255	CV773918	single nucleotide variant	NM_001493.3(GDI1):c.1280C>T (p.Thr427Met)	not provided [RCV000930319]\|not specified [RCV001818897]	benign\|uncertain significance	X	154442608	154442608	Human		name
8568014	CV38888	microsatellite	NM_001493.3(GDI1):c.1186_1187del (p.Ser396fs)	Intellectual disability, X-linked 41 [RCV000022824]	pathogenic	X	154442420	154442421	Human		name
38596599	CV963955	deletion	NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs)	Intellectual disability, X-linked 41 [RCV001252003]	pathogenic	X	154442178	154442182	Human	1	name
405867795	CV3396616	insertion	NM_001493.3(GDI1):c.1088_1089insT (p.Glu363fs)	Intellectual disability, X-linked 41 [RCV004560487]	pathogenic	X	154442207	154442208	Human	1	name
401913450	CV2830395	duplication	NM_001493.3(GDI1):c.198_203dup (p.Arg70_Asp71insGlyArg)	not provided [RCV003441610]	uncertain significance	X	154438808	154438809	Human		name
38598536	CV964585	insertion	NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer)	Intellectual disability [RCV001255375]\|Intellectual disability, X-linked 41 [RCV001253739]	pathogenic	X	154442406	154442407	Human	3	name

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