ClinVar for MedGen (Select 333142) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26283491.	NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs) GRCh37: Chr2:135890473 GRCh38: Chr2:135132903	RAB3GAP1	P416fs	Warburg micro syndrome 1	Pathogenic (Nov 10, 2023)	criteria provided, single submitter
Select item 26274442.	NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs) GRCh37: Chr2:135872841-135872842 GRCh38: Chr2:135115271-135115272	RAB3GAP1	C181fs	Warburg micro syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 25831583.	NM_012233.3(RAB3GAP1):c.2290-17_2290del GRCh37: Chr2:135920107-135920124 GRCh38: Chr2:135162537-135162554	RAB3GAP1		Warburg micro syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 25792674.	GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1 GRCh38: Chr2:135162318-135164794	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Aug 24, 2023)	criteria provided, single submitter
Select item 24440495.	NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs) GRCh37: Chr2:135891542-135891543 GRCh38: Chr2:135133972-135133973	RAB3GAP1	W481fs	Warburg micro syndrome 1	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24380306.	NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter) GRCh37: Chr2:135888229 GRCh38: Chr2:135130659	RAB3GAP1	R392*	Warburg micro syndrome 1, not provided	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24127687.	NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs) GRCh37: Chr2:135920322-135920323 GRCh38: Chr2:135162752-135162753	RAB3GAP1	L798fs	Warburg micro syndrome 1	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 20496108.	NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer) GRCh37: Chr2:135878397 GRCh38: Chr2:135120827	RAB3GAP1		not provided, Warburg micro syndrome 1	Pathogenic (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13390029.	NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter) GRCh37: Chr2:135888254 GRCh38: Chr2:135130684	RAB3GAP1	S400*	Warburg micro syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 117705610.	NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer) GRCh37: Chr2:135911344-135911345 GRCh38: Chr2:135153774-135153775	RAB3GAP1		Warburg micro syndrome 1	Pathogenic (Jul 7, 2021)	no assertion criteria provided
Select item 116229111.	NC_000002.12:g.(?_135052292)_(135176396_?)del GRCh38: Chr2:135052292-135176396	LOC111562379, SNORA40B, LOC129934831, RAB3GAP1		Warburg micro syndrome 1	Pathogenic (Jun 7, 2021)	no assertion criteria provided
Select item 104791912.	NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter) GRCh37: Chr2:135892887 GRCh38: Chr2:135135317	RAB3GAP1	Q518*	Warburg micro syndrome 1	Pathogenic (Feb 1, 2021)	no assertion criteria provided
Select item 102918313.	NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg) GRCh37: Chr2:135891480 GRCh38: Chr2:135133910	RAB3GAP1	K459R	not provided, not specified, Warburg micro syndrome 1	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89439414.	NM_012233.3(RAB3GAP1):c.*1056G>A GRCh37: Chr2:135927407 GRCh38: Chr2:135169837	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89439315.	NM_012233.3(RAB3GAP1):c.*992G>A GRCh37: Chr2:135927343 GRCh38: Chr2:135169773	RAB3GAP1		Warburg micro syndrome 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89439216.	NM_012233.3(RAB3GAP1):c.*822T>G GRCh37: Chr2:135927173 GRCh38: Chr2:135169603	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89439117.	NM_012233.3(RAB3GAP1):c.*647T>C GRCh37: Chr2:135926998 GRCh38: Chr2:135169428	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89439018.	NM_012233.3(RAB3GAP1):c.*557T>C GRCh37: Chr2:135926908 GRCh38: Chr2:135169338	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89435819.	NM_012233.3(RAB3GAP1):c.1924-3C>T GRCh37: Chr2:135907936 GRCh38: Chr2:135150366	RAB3GAP1		not provided, Warburg micro syndrome 1	Uncertain significance (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89435720.	NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys) GRCh37: Chr2:135893167 GRCh38: Chr2:135135597	RAB3GAP1	R530C	Inborn genetic diseases, not provided, Warburg micro syndrome 1	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89398721.	NM_012233.3(RAB3GAP1):c.*507A>G GRCh37: Chr2:135926858 GRCh38: Chr2:135169288	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89398622.	NM_012233.3(RAB3GAP1):c.*255T>G GRCh37: Chr2:135926606 GRCh38: Chr2:135169036	RAB3GAP1		not provided, Warburg micro syndrome 1	Conflicting interpretations of pathogenicity (Jun 19, 2018)	criteria provided, conflicting interpretations
Select item 89395723.	NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=) GRCh37: Chr2:135888288 GRCh38: Chr2:135130718	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89395624.	NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp) GRCh37: Chr2:135888208 GRCh38: Chr2:135130638	RAB3GAP1	H385D	Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89372225.	NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn) GRCh37: Chr2:135926236 GRCh38: Chr2:135168666	RAB3GAP1	T944N, T951N	Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89372126.	NM_012233.3(RAB3GAP1):c.2800C>A (p.Pro934Thr) GRCh37: Chr2:135926205 GRCh38: Chr2:135168635	RAB3GAP1	P934T, P941T	Warburg micro syndrome 1	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89368527.	NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala) GRCh37: Chr2:135883770 GRCh38: Chr2:135126200	RAB3GAP1	T284A	Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89317728.	NM_012233.3(RAB3GAP1):c.*1898G>A GRCh37: Chr2:135928249 GRCh38: Chr2:135170679	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89317629.	NM_012233.3(RAB3GAP1):c.*1826G>C GRCh37: Chr2:135928177 GRCh38: Chr2:135170607	RAB3GAP1		Warburg micro syndrome 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89317530.	NM_012233.3(RAB3GAP1):c.*1764C>G GRCh37: Chr2:135928115 GRCh38: Chr2:135170545	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89317431.	NM_012233.3(RAB3GAP1):c.*1543T>C GRCh37: Chr2:135927894 GRCh38: Chr2:135170324	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89317332.	NM_012233.3(RAB3GAP1):c.*1534G>A GRCh37: Chr2:135927885 GRCh38: Chr2:135170315	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89295033.	NM_012233.3(RAB3GAP1):c.*1272T>C GRCh37: Chr2:135927623 GRCh38: Chr2:135170053	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89294934.	NM_012233.3(RAB3GAP1):c.*1247T>C GRCh37: Chr2:135927598 GRCh38: Chr2:135170028	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89294835.	NM_012233.3(RAB3GAP1):c.*1212A>G GRCh37: Chr2:135927563 GRCh38: Chr2:135169993	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 89294736.	NM_012233.3(RAB3GAP1):c.*1209T>C GRCh37: Chr2:135927560 GRCh38: Chr2:135169990	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89294637.	NM_012233.3(RAB3GAP1):c.*1107A>C GRCh37: Chr2:135927458 GRCh38: Chr2:135169888	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89291338.	NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln) GRCh37: Chr2:135920605 GRCh38: Chr2:135163035	RAB3GAP1	R847Q	Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89287439.	NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser) GRCh37: Chr2:135810016 GRCh38: Chr2:135052446	RAB3GAP1	F12S	Warburg micro syndrome 1	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89287340.	NM_012233.3(RAB3GAP1):c.-4C>T GRCh37: Chr2:135809874 GRCh38: Chr2:135052304	RAB3GAP1		not specified, Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 80089141.	NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) GRCh37: Chr2:135872862 GRCh38: Chr2:135115292	RAB3GAP1	R187*	not provided	Pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80051942.	NM_012233.3(RAB3GAP1):c.1555-1G>A GRCh37: Chr2:135893133 GRCh38: Chr2:135135563	RAB3GAP1		Warburg micro syndrome 1	Pathogenic (Nov 15, 2018)	criteria provided, single submitter
Select item 77244743.	NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) GRCh37: Chr2:135926205 GRCh38: Chr2:135168635	RAB3GAP1	P934A, P941A	not provided, Warburg micro syndrome 1	Benign (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63532544.	NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) GRCh37: Chr2:135893487 GRCh38: Chr2:135135917	RAB3GAP1	Y636*	Warburg micro syndrome 1, not provided	Pathogenic (May 15, 2019)	criteria provided, multiple submitters, no conflicts
Select item 62331945.	NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) GRCh37: Chr2:135920556 GRCh38: Chr2:135162986	RAB3GAP1	E831*	Warburg micro syndrome 1	Pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 62331846.	NM_012233.3(RAB3GAP1):c.1237-2A>G GRCh37: Chr2:135890463 GRCh38: Chr2:135132893	RAB3GAP1		Warburg micro syndrome 1	Pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 59169647.	NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) GRCh37: Chr2:135920417 GRCh38: Chr2:135162847	RAB3GAP1	L829*	not provided, Warburg micro syndrome 1	Conflicting interpretations of pathogenicity (Mar 11, 2021)	no assertion criteria provided
Select item 56109548.	NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) GRCh37: Chr2:135870827 GRCh38: Chr2:135113257	RAB3GAP1	G157*	Warburg micro syndrome 1	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 56092349.	NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) GRCh37: Chr2:135890538 GRCh38: Chr2:135132968	RAB3GAP1	S437*	Warburg micro syndrome 1	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 54541150.	NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) GRCh37: Chr2:135926270-135926271 GRCh38: Chr2:135168700-135168701	RAB3GAP1	P963fs, P956fs	Warburg micro syndrome 1	not provided	no assertion provided
Select item 54541051.	NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) GRCh37: Chr2:135887630 GRCh38: Chr2:135130060	RAB3GAP1	R347*	not provided, Warburg micro syndrome 1, Martsolf syndrome 2, Warburg micro syndrome 1	Pathogenic (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54540952.	NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) GRCh37: Chr2:135872863 GRCh38: Chr2:135115293	RAB3GAP1	R187P	Warburg micro syndrome 1	not provided	no assertion provided
Select item 52278853.	NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) GRCh37: Chr2:135870786-135870787 GRCh38: Chr2:135113216-135113217	RAB3GAP1	K144*	Warburg micro syndrome 1	Pathogenic/Likely pathogenic (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44815354.	NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) GRCh37: Chr2:135848684 GRCh38: Chr2:135091114	RAB3GAP1		not specified, not provided, Warburg micro syndrome 1	Likely benign (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43646755.	NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) GRCh37: Chr2:135926351 GRCh38: Chr2:135168781	RAB3GAP1		not specified, not provided, Warburg micro syndrome 1, Martsolf syndrome 2, Warburg micro syndrome 1	Uncertain significance (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43646456.	NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys) GRCh37: Chr2:135926244 GRCh38: Chr2:135168674	RAB3GAP1	R947C, R954C	not provided, not specified, Inborn genetic diseases, Warburg micro syndrome 1	Uncertain significance (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42052757.	NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) GRCh37: Chr2:135872933-135872934 GRCh38: Chr2:135115363-135115364	RAB3GAP1	I211fs	not provided, RAB3GAP1-related condition, Warburg micro syndrome 1	Pathogenic/Likely pathogenic (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 39129058.	NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) GRCh37: Chr2:135890496 GRCh38: Chr2:135132926	RAB3GAP1	P423R	Warburg micro syndrome 1, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 37681559.	NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) GRCh37: Chr2:135920168 GRCh38: Chr2:135162598	RAB3GAP1	R778Q	Warburg micro syndrome 1, not provided	Uncertain significance (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33115360.	NM_012233.3(RAB3GAP1):c.*1693G>C GRCh37: Chr2:135928044 GRCh38: Chr2:135170474	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33115261.	NM_012233.3(RAB3GAP1):c.*1611A>T GRCh37: Chr2:135927962 GRCh38: Chr2:135170392	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33115162.	NM_012233.3(RAB3GAP1):c.*1511G>A GRCh37: Chr2:135927862 GRCh38: Chr2:135170292	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33115063.	NM_012233.3(RAB3GAP1):c.*1397C>T GRCh37: Chr2:135927748 GRCh38: Chr2:135170178	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33114964.	NM_012233.3(RAB3GAP1):c.*1378T>C GRCh37: Chr2:135927729 GRCh38: Chr2:135170159	RAB3GAP1		Warburg micro syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33114665.	NM_012233.3(RAB3GAP1):c.*1077T>C GRCh37: Chr2:135927428 GRCh38: Chr2:135169858	RAB3GAP1		Warburg micro syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33114566.	NM_012233.3(RAB3GAP1):c.*995T>C GRCh37: Chr2:135927346 GRCh38: Chr2:135169776	RAB3GAP1		Warburg micro syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33114367.	NM_012233.3(RAB3GAP1):c.*547A>G GRCh37: Chr2:135926898 GRCh38: Chr2:135169328	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33114268.	NM_012233.3(RAB3GAP1):c.*404C>T GRCh37: Chr2:135926755 GRCh38: Chr2:135169185	RAB3GAP1		Warburg micro syndrome 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33114169.	NM_012233.3(RAB3GAP1):c.*346G>A GRCh37: Chr2:135926697 GRCh38: Chr2:135169127	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33114070.	NM_012233.3(RAB3GAP1):c.*324T>G GRCh37: Chr2:135926675 GRCh38: Chr2:135169105	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33113971.	NM_012233.3(RAB3GAP1):c.*303G>A GRCh37: Chr2:135926654 GRCh38: Chr2:135169084	RAB3GAP1		Warburg micro syndrome 1, not provided	Likely benign (Dec 1, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33113672.	NM_012233.3(RAB3GAP1):c.*252T>G GRCh37: Chr2:135926603 GRCh38: Chr2:135169033	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33113573.	NM_012233.3(RAB3GAP1):c.*201T>G GRCh37: Chr2:135926552 GRCh38: Chr2:135168982	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33113474.	NM_012233.3(RAB3GAP1):c.*174T>C GRCh37: Chr2:135926525 GRCh38: Chr2:135168955	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33113375.	NM_012233.3(RAB3GAP1):c.*171G>A GRCh37: Chr2:135926522 GRCh38: Chr2:135168952	RAB3GAP1		not provided, Warburg micro syndrome 1	Benign (Jun 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33113276.	NM_012233.3(RAB3GAP1):c.*170C>T GRCh37: Chr2:135926521 GRCh38: Chr2:135168951	RAB3GAP1		Warburg micro syndrome 1	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33113177.	NM_012233.3(RAB3GAP1):c.*135C>G GRCh37: Chr2:135926486 GRCh38: Chr2:135168916	RAB3GAP1		not provided, Warburg micro syndrome 1	Benign (Jul 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 33113078.	NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp) GRCh37: Chr2:135911432 GRCh38: Chr2:135153862	RAB3GAP1	R759W	Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33112979.	NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=) GRCh37: Chr2:135911255 GRCh38: Chr2:135153685	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33112880.	NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val) GRCh37: Chr2:135893260 GRCh38: Chr2:135135690	RAB3GAP1	L561V	not provided, Warburg micro syndrome 1	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33112781.	NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) GRCh37: Chr2:135890535 GRCh38: Chr2:135132965	RAB3GAP1	P436L	not provided, Warburg micro syndrome 1	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33112682.	NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln) GRCh37: Chr2:135888230 GRCh38: Chr2:135130660	RAB3GAP1	R392Q	Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33112583.	NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=) GRCh37: Chr2:135888168 GRCh38: Chr2:135130598	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33112484.	NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr) GRCh37: Chr2:135888134 GRCh38: Chr2:135130564	RAB3GAP1	I360T	Inborn genetic diseases, Warburg micro syndrome 1	Uncertain significance (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 33112385.	NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu) GRCh37: Chr2:135887639 GRCh38: Chr2:135130069	RAB3GAP1	F350L	Warburg micro syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33112286.	NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln) GRCh37: Chr2:135884197 GRCh38: Chr2:135126627	RAB3GAP1	R315Q	Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33112187.	NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) GRCh37: Chr2:135870769 GRCh38: Chr2:135113199	RAB3GAP1		not specified, not provided, Warburg micro syndrome 1	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 33111988.	NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=) GRCh37: Chr2:135870730 GRCh38: Chr2:135113160	RAB3GAP1		Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33111889.	NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala) GRCh37: Chr2:135848656 GRCh38: Chr2:135091086	RAB3GAP1	V80A	not provided, Warburg micro syndrome 1	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 33111790.	NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys) GRCh37: Chr2:135815600 GRCh38: Chr2:135058030	RAB3GAP1	E32K	Warburg micro syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 21197991.	NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) GRCh37: Chr2:135922199 GRCh38: Chr2:135164629	RAB3GAP1	L881*	Warburg micro syndrome 1	Pathogenic (Sep 13, 2015)	criteria provided, multiple submitters, no conflicts
Select item 21197892.	NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) GRCh37: Chr2:135887597 GRCh38: Chr2:135130027	RAB3GAP1	R336C	not provided, Warburg micro syndrome 1, not specified	Benign/Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19112693.	NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) GRCh37: Chr2:135887600 GRCh38: Chr2:135130030	RAB3GAP1	R337*	not provided	Pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 13007294.	NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) GRCh37: Chr2:135884166 GRCh38: Chr2:135126596	RAB3GAP1	I305V	not specified, not provided, Warburg micro syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13007195.	NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) GRCh37: Chr2:135878409 GRCh38: Chr2:135120839	RAB3GAP1	L223F	not specified, not provided, Warburg micro syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13007096.	NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) GRCh37: Chr2:135851258 GRCh38: Chr2:135093688	RAB3GAP1		not specified, not provided, Warburg micro syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13006897.	NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) GRCh37: Chr2:135920394 GRCh38: Chr2:135162824	RAB3GAP1		not specified, not provided, Warburg micro syndrome 1	Benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13006798.	NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) GRCh37: Chr2:135911422 GRCh38: Chr2:135153852	RAB3GAP1		Martsolf syndrome 2, not provided, not specified, Warburg micro syndrome, Warburg micro syndrome 1	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13006699.	NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) GRCh37: Chr2:135908022 GRCh38: Chr2:135150452	RAB3GAP1	H669Q	not provided, Warburg micro syndrome 1	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130065100.	NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) GRCh37: Chr2:135908007 GRCh38: Chr2:135150437	RAB3GAP1		not specified, not provided, Warburg micro syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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