ClinVar for MedGen (Select 334110) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854571.	NM_006420.3(ARFGEF2):c.91C>T (p.Gln31Ter) GRCh37: Chr20:47538517 GRCh38: Chr20:48921980	ARFGEF2	Q31*	Periventricular heterotopia with microcephaly, autosomal recessive	Likely pathogenic	criteria provided, single submitter
Select item 24391492.	NM_006420.3(ARFGEF2):c.728C>G (p.Thr243Arg) GRCh37: Chr20:47570217 GRCh38: Chr20:48953680	ARFGEF2	T243R	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 24349113.	NM_006420.3(ARFGEF2):c.2821C>T (p.Arg941Ter) GRCh37: Chr20:47607583 GRCh38: Chr20:48991046	ARFGEF2	R940, R941	Periventricular heterotopia with microcephaly, autosomal recessive	Likely pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 17053944.	NM_006420.3(ARFGEF2):c.4003G>T (p.Glu1335Ter) GRCh37: Chr20:47630185 GRCh38: Chr20:49013648	ARFGEF2	E1334, E1335	Periventricular heterotopia with microcephaly, autosomal recessive	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 13233805.	NM_006420.3(ARFGEF2):c.1072C>T (p.Gln358Ter) GRCh37: Chr20:47585696 GRCh38: Chr20:48969159	ARFGEF2	Q358*	Periventricular heterotopia with microcephaly, autosomal recessive	Pathogenic (Jul 2, 2019)	criteria provided, single submitter
Select item 10331046.	NM_006420.3(ARFGEF2):c.3718A>G (p.Ile1240Val) GRCh37: Chr20:47626902 GRCh38: Chr20:49010365	ARFGEF2	I1240V	not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10331037.	NM_006420.3(ARFGEF2):c.2260A>G (p.Ile754Val) GRCh37: Chr20:47602134 GRCh38: Chr20:48985597	ARFGEF2	I754V	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Apr 10, 2018)	criteria provided, single submitter
Select item 10331018.	NM_006420.3(ARFGEF2):c.1105G>A (p.Val369Ile) GRCh37: Chr20:47585729 GRCh38: Chr20:48969192	ARFGEF2	V369I	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Feb 6, 2018)	criteria provided, single submitter
Select item 9828549.	NM_006420.3(ARFGEF2):c.1015G>C (p.Gly339Arg) GRCh37: Chr20:47582516 GRCh38: Chr20:48965979	ARFGEF2	G339R	not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93071410.	NM_006420.3(ARFGEF2):c.4269del (p.Leu1424fs) GRCh37: Chr20:47632905 GRCh38: Chr20:49016368	ARFGEF2	L1424fs	Periventricular heterotopia with microcephaly, autosomal recessive	Likely pathogenic (Dec 7, 2018)	criteria provided, single submitter
Select item 89935411.	NM_006420.3(ARFGEF2):c.2815-5T>A GRCh37: Chr20:47607572 GRCh38: Chr20:48991035	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89929012.	NM_006420.3(ARFGEF2):c.1204C>T (p.Arg402Cys) GRCh37: Chr20:47587670 GRCh38: Chr20:48971133	ARFGEF2	R402C	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89928913.	NM_006420.3(ARFGEF2):c.1155C>T (p.Ser385=) GRCh37: Chr20:47585779 GRCh38: Chr20:48969242	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89839214.	NM_006420.3(ARFGEF2):c.*1708C>G GRCh37: Chr20:47651444 GRCh38: Chr20:49034907	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89839115.	NM_006420.3(ARFGEF2):c.*1560G>A GRCh37: Chr20:47651296 GRCh38: Chr20:49034759	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89830816.	NM_006420.3(ARFGEF2):c.*29T>C GRCh37: Chr20:47649765 GRCh38: Chr20:49033228	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89830717.	NM_006420.3(ARFGEF2):c.5286A>G (p.Ile1762Met) GRCh37: Chr20:47649664 GRCh38: Chr20:49033127	ARFGEF2	I1762M	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89830618.	NM_006420.3(ARFGEF2):c.5275T>C (p.Phe1759Leu) GRCh37: Chr20:47649653 GRCh38: Chr20:49033116	ARFGEF2	F1759L	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89824319.	NM_006420.3(ARFGEF2):c.2558G>A (p.Arg853Gln) GRCh37: Chr20:47605846 GRCh38: Chr20:48989309	ARFGEF2	R853Q	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89824220.	NM_006420.3(ARFGEF2):c.2276+10G>A GRCh37: Chr20:47602160 GRCh38: Chr20:48985623	ARFGEF2		not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 89824121.	NM_006420.3(ARFGEF2):c.2251G>T (p.Ala751Ser) GRCh37: Chr20:47602125 GRCh38: Chr20:48985588	ARFGEF2	A751S	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89824022.	NM_006420.3(ARFGEF2):c.2250C>T (p.Ala750=) GRCh37: Chr20:47602124 GRCh38: Chr20:48985587	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89823923.	NM_006420.3(ARFGEF2):c.2147A>G (p.Asp716Gly) GRCh37: Chr20:47602021 GRCh38: Chr20:48985484	ARFGEF2	D716G	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89823824.	NM_006420.3(ARFGEF2):c.2133C>T (p.Tyr711=) GRCh37: Chr20:47602007 GRCh38: Chr20:48985470	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89818425.	NM_006420.3(ARFGEF2):c.699G>A (p.Leu233=) GRCh37: Chr20:47570188 GRCh38: Chr20:48953651	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89818326.	NM_006420.3(ARFGEF2):c.694C>T (p.Arg232Cys) GRCh37: Chr20:47570183 GRCh38: Chr20:48953646	ARFGEF2	R232C	not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89818227.	NM_006420.3(ARFGEF2):c.454A>G (p.Ile152Val) GRCh37: Chr20:47569272 GRCh38: Chr20:48952735	ARFGEF2	I152V	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89818128.	NM_006420.3(ARFGEF2):c.158G>T (p.Gly53Val) GRCh37: Chr20:47558406 GRCh38: Chr20:48941869	ARFGEF2	G53V	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89728429.	NM_006420.3(ARFGEF2):c.*2858C>A GRCh37: Chr20:47652594 GRCh38: Chr20:49036057	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89722130.	NM_006420.3(ARFGEF2):c.*1184A>G GRCh37: Chr20:47650920 GRCh38: Chr20:49034383	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 89722031.	NM_006420.3(ARFGEF2):c.*1104G>A GRCh37: Chr20:47650840 GRCh38: Chr20:49034303	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89721932.	NM_006420.3(ARFGEF2):c.*1015C>T GRCh37: Chr20:47650751 GRCh38: Chr20:49034214	ARFGEF2		not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 89714233.	NM_006420.3(ARFGEF2):c.4732G>C (p.Ala1578Pro) GRCh37: Chr20:47639695 GRCh38: Chr20:49023158	ARFGEF2	A1578P	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89714134.	NM_006420.3(ARFGEF2):c.4348T>A (p.Cys1450Ser) GRCh37: Chr20:47633818 GRCh38: Chr20:49017281	ARFGEF2	C1450S	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89680335.	NM_006420.3(ARFGEF2):c.*2692C>T GRCh37: Chr20:47652428 GRCh38: Chr20:49035891	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89680236.	NM_006420.3(ARFGEF2):c.*2391C>T GRCh37: Chr20:47652127 GRCh38: Chr20:49035590	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89674637.	NM_006420.3(ARFGEF2):c.*866T>C GRCh37: Chr20:47650602 GRCh38: Chr20:49034065	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89674538.	NM_006420.3(ARFGEF2):c.*640T>A GRCh37: Chr20:47650376 GRCh38: Chr20:49033839	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89674439.	NM_006420.3(ARFGEF2):c.*323G>A GRCh37: Chr20:47650059 GRCh38: Chr20:49033522	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89669240.	NM_006420.3(ARFGEF2):c.4219T>A (p.Tyr1407Asn) GRCh37: Chr20:47632856 GRCh38: Chr20:49016319	ARFGEF2	Y1407N	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89669141.	NM_006420.3(ARFGEF2):c.4180-13T>C GRCh37: Chr20:47632804 GRCh38: Chr20:49016267	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89669042.	NM_006420.3(ARFGEF2):c.3945C>T (p.Asp1315=) GRCh37: Chr20:47630127 GRCh38: Chr20:49013590	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89661443.	NM_006420.3(ARFGEF2):c.1926A>G (p.Gln642=) GRCh37: Chr20:47592704 GRCh38: Chr20:48976167	ARFGEF2		not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting interpretations of pathogenicity (May 25, 2022)	criteria provided, conflicting interpretations
Select item 89661344.	NM_006420.3(ARFGEF2):c.1834C>T (p.Arg612Trp) GRCh37: Chr20:47592612 GRCh38: Chr20:48976075	ARFGEF2	R612W	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89661245.	NM_006420.3(ARFGEF2):c.1665+7A>C GRCh37: Chr20:47589828 GRCh38: Chr20:48973291	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89661146.	NM_006420.3(ARFGEF2):c.1498A>G (p.Ile500Val) GRCh37: Chr20:47588935 GRCh38: Chr20:48972398	ARFGEF2	I500V	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89655247.	NM_006420.3(ARFGEF2):c.-39C>T GRCh37: Chr20:47538388 GRCh38: Chr20:48921851	ARFGEF2, LOC130066080		Periventricular heterotopia with microcephaly, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Mar 15, 2021)	criteria provided, conflicting interpretations
Select item 89540748.	NM_006420.3(ARFGEF2):c.*1943G>T GRCh37: Chr20:47651679 GRCh38: Chr20:49035142	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89540649.	NM_006420.3(ARFGEF2):c.*1876G>A GRCh37: Chr20:47651612 GRCh38: Chr20:49035075	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89533150.	NM_006420.3(ARFGEF2):c.*161A>G GRCh37: Chr20:47649897 GRCh38: Chr20:49033360	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89533051.	NM_006420.3(ARFGEF2):c.*148C>G GRCh37: Chr20:47649884 GRCh38: Chr20:49033347	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89532952.	NM_006420.3(ARFGEF2):c.*140C>T GRCh37: Chr20:47649876 GRCh38: Chr20:49033339	ARFGEF2		not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting interpretations of pathogenicity (Jul 15, 2018)	criteria provided, conflicting interpretations
Select item 89532853.	NM_006420.3(ARFGEF2):c.*134C>A GRCh37: Chr20:47649870 GRCh38: Chr20:49033333	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89532754.	NM_006420.3(ARFGEF2):c.*127C>T GRCh37: Chr20:47649863 GRCh38: Chr20:49033326	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89525455.	NM_006420.3(ARFGEF2):c.3318C>T (p.His1106=) GRCh37: Chr20:47614928 GRCh38: Chr20:48998391	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89525356.	NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys) GRCh37: Chr20:47614884 GRCh38: Chr20:48998347	ARFGEF2	R1092C	not specified, Inborn genetic diseases, Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (May 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89520057.	NM_006420.3(ARFGEF2):c.1299G>A (p.Lys433=) GRCh37: Chr20:47587765 GRCh38: Chr20:48971228	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89519958.	NM_006420.3(ARFGEF2):c.1247A>C (p.Gln416Pro) GRCh37: Chr20:47587713 GRCh38: Chr20:48971176	ARFGEF2	Q416P	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89519859.	NM_006420.3(ARFGEF2):c.1240G>C (p.Val414Leu) GRCh37: Chr20:47587706 GRCh38: Chr20:48971169	ARFGEF2	V414L	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 81355660.	NM_006420.3(ARFGEF2):c.338G>A (p.Arg113Gln) GRCh37: Chr20:47567921 GRCh38: Chr20:48951384	ARFGEF2	R113Q	not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80361161.	NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter) GRCh37: Chr20:47649632 GRCh38: Chr20:49033095	ARFGEF2	R1752*	Periventricular heterotopia with microcephaly, autosomal recessive	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80361062.	NM_006420.3(ARFGEF2):c.1492del (p.Met498fs) GRCh37: Chr20:47588929 GRCh38: Chr20:48972392	ARFGEF2	M498fs	Periventricular heterotopia with microcephaly, autosomal recessive	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 79817363.	NM_006420.3(ARFGEF2):c.4346A>C (p.Asn1449Thr) GRCh37: Chr20:47633816 GRCh38: Chr20:49017279	ARFGEF2	N1449T	not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting interpretations of pathogenicity (Apr 24, 2022)	criteria provided, conflicting interpretations
Select item 71806164.	NM_006420.3(ARFGEF2):c.1329C>T (p.Asn443=) GRCh37: Chr20:47587795 GRCh38: Chr20:48971258	ARFGEF2		not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Conflicting interpretations of pathogenicity (Jan 28, 2022)	criteria provided, conflicting interpretations
Select item 67936065.	NM_006420.3(ARFGEF2):c.4180-63A>G GRCh37: Chr20:47632754 GRCh38: Chr20:49016217	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67935866.	NM_006420.3(ARFGEF2):c.3222-65G>A GRCh37: Chr20:47614665 GRCh38: Chr20:48998128	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67415567.	NM_006420.3(ARFGEF2):c.3433-53G>A GRCh37: Chr20:47621554 GRCh38: Chr20:49005017	ARFGEF2		not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67092568.	NM_006420.3(ARFGEF2):c.1060-42T>C GRCh37: Chr20:47585642 GRCh38: Chr20:48969105	ARFGEF2		not provided, Periventricular heterotopia with microcephaly, autosomal recessive	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58741169.	NM_006420.3(ARFGEF2):c.3262G>A (p.Val1088Ile) GRCh37: Chr20:47614770 GRCh38: Chr20:48998233	ARFGEF2	V1088I	Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 50691370.	NM_006420.3(ARFGEF2):c.770G>A (p.Arg257Lys) GRCh37: Chr20:47570259 GRCh38: Chr20:48953722	ARFGEF2	R257K	Periventricular heterotopia with microcephaly, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 43429771.	NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs) GRCh37: Chr20:47605926-47605927 GRCh38: Chr20:48989389-48989390	ARFGEF2	P880fs	Periventricular heterotopia with microcephaly, autosomal recessive	Pathogenic (May 3, 2017)	criteria provided, single submitter
Select item 43429572.	NM_006420.2(ARFGEF2):c.1062_1067del GRCh37: Chr20:47585683-47585688 GRCh38: Chr20:48969146-48969151	ARFGEF2		not specified, not provided	Uncertain significance (Oct 25, 2017)	criteria provided, multiple submitters, no conflicts
Select item 43428673.	NM_006420.3(ARFGEF2):c.3456T>C (p.Asp1152=) GRCh37: Chr20:47621630 GRCh38: Chr20:49005093	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive, not provided, not specified	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 43428274.	NM_006420.3(ARFGEF2):c.2640G>A (p.Pro880=) GRCh37: Chr20:47605928 GRCh38: Chr20:48989391	ARFGEF2		not specified, Periventricular heterotopia with microcephaly, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Aug 13, 2022)	criteria provided, conflicting interpretations
Select item 33874775.	NM_006420.3(ARFGEF2):c.*3486T>A GRCh37: Chr20:47653222 GRCh38: Chr20:49036685	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33874676.	NM_006420.3(ARFGEF2):c.*2898C>T GRCh37: Chr20:47652634 GRCh38: Chr20:49036097	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33874577.	NM_006420.3(ARFGEF2):c.*2820T>G GRCh37: Chr20:47652556 GRCh38: Chr20:49036019	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33874078.	NM_006420.3(ARFGEF2):c.*2758A>T GRCh37: Chr20:47652494 GRCh38: Chr20:49035957	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33873979.	NM_006420.3(ARFGEF2):c.*2609C>T GRCh37: Chr20:47652345 GRCh38: Chr20:49035808	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33873880.	NM_006420.3(ARFGEF2):c.*2602A>G GRCh37: Chr20:47652338 GRCh38: Chr20:49035801	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33873781.	NM_006420.3(ARFGEF2):c.*2591G>A GRCh37: Chr20:47652327 GRCh38: Chr20:49035790	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33873682.	NM_006420.3(ARFGEF2):c.*2518A>G GRCh37: Chr20:47652254 GRCh38: Chr20:49035717	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33873583.	NM_006420.3(ARFGEF2):c.*2451A>C GRCh37: Chr20:47652187 GRCh38: Chr20:49035650	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33873484.	NM_006420.3(ARFGEF2):c.*2240A>C GRCh37: Chr20:47651976 GRCh38: Chr20:49035439	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33873385.	NM_006420.3(ARFGEF2):c.*2067G>C GRCh37: Chr20:47651803 GRCh38: Chr20:49035266	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33873286.	NM_006420.3(ARFGEF2):c.*2014T>G GRCh37: Chr20:47651750 GRCh38: Chr20:49035213	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33873187.	NM_006420.3(ARFGEF2):c.*1969G>C GRCh37: Chr20:47651705 GRCh38: Chr20:49035168	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33873088.	NM_006420.3(ARFGEF2):c.*1969G>A GRCh37: Chr20:47651705 GRCh38: Chr20:49035168	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33872989.	NM_006420.3(ARFGEF2):c.*1932A>G GRCh37: Chr20:47651668 GRCh38: Chr20:49035131	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33872890.	NM_006420.3(ARFGEF2):c.*1846C>T GRCh37: Chr20:47651582 GRCh38: Chr20:49035045	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33872791.	NM_006420.3(ARFGEF2):c.*1789A>G GRCh37: Chr20:47651525 GRCh38: Chr20:49034988	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33872692.	NM_006420.3(ARFGEF2):c.*1756G>A GRCh37: Chr20:47651492 GRCh38: Chr20:49034955	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33872593.	NM_006420.3(ARFGEF2):c.*1608T>C GRCh37: Chr20:47651344 GRCh38: Chr20:49034807	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33872494.	NM_006420.3(ARFGEF2):c.*1603A>G GRCh37: Chr20:47651339 GRCh38: Chr20:49034802	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33872395.	NM_006420.3(ARFGEF2):c.*1564G>A GRCh37: Chr20:47651300 GRCh38: Chr20:49034763	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33872296.	NM_006420.3(ARFGEF2):c.*1422A>G GRCh37: Chr20:47651158 GRCh38: Chr20:49034621	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33872197.	NM_006420.3(ARFGEF2):c.*1304C>T GRCh37: Chr20:47651040 GRCh38: Chr20:49034503	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33872098.	NM_006420.3(ARFGEF2):c.*1200A>G GRCh37: Chr20:47650936 GRCh38: Chr20:49034399	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33871999.	NM_006420.3(ARFGEF2):c.*1138C>A GRCh37: Chr20:47650874 GRCh38: Chr20:49034337	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 338718100.	NM_006420.3(ARFGEF2):c.*1016G>A GRCh37: Chr20:47650752 GRCh38: Chr20:49034215	ARFGEF2		Periventricular heterotopia with microcephaly, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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