ClinVar for MedGen (Select 347037) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25823421.	NM_001034116.2(EIF2B4):c.10G>C (p.Val4Leu) GRCh37: Chr2:27593172 GRCh38: Chr2:27370305	EIF2B4	V4L	Vanishing white matter disease	Uncertain significance (May 5, 2023)	criteria provided, single submitter
Select item 25814322.	NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser) GRCh37: Chr3:183860082 GRCh38: Chr3:184142294	EIF2B5	P454S	not provided, Vanishing white matter disease	Conflicting interpretations of pathogenicity (Sep 1, 2023)	criteria provided, conflicting interpretations
Select item 25812823.	NM_001034116.2(EIF2B4):c.498+2_498+5del GRCh37: Chr2:27591516-27591519 GRCh38: Chr2:27368649-27368652	EIF2B4		Vanishing white matter disease	Likely pathogenic (Aug 21, 2023)	criteria provided, single submitter
Select item 24444174.	NM_003907.3(EIF2B5):c.1937T>C (p.Leu646Ser) GRCh37: Chr3:183861954 GRCh38: Chr3:184144166	EIF2B5	L646S	Vanishing white matter disease	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24443405.	NM_003907.3(EIF2B5):c.955T>C (p.Tyr319His) GRCh37: Chr3:183858317 GRCh38: Chr3:184140529	EIF2B5	Y319H	Vanishing white matter disease	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24419916.	NM_003907.3(EIF2B5):c.185A>T (p.Asp62Val) GRCh37: Chr3:183853358 GRCh38: Chr3:184135570	EIF2B5	D62V	Vanishing white matter disease	Uncertain significance (May 25, 2021)	criteria provided, single submitter
Select item 24412037.	NM_003907.3(EIF2B5):c.2049C>G (p.Ser683Arg) GRCh37: Chr3:183862438 GRCh38: Chr3:184144650	EIF2B5	S683R	Vanishing white matter disease	Uncertain significance (Mar 23, 2020)	criteria provided, single submitter
Select item 22485038.	NM_001034116.2(EIF2B4):c.1411G>T (p.Val471Phe) GRCh37: Chr2:27587428 GRCh38: Chr2:27364561	EIF2B4, GTF3C2-AS2	V491F, V276F, V456F, V470F, V471F, V265F, V440F, V492F	Inborn genetic diseases, Vanishing white matter disease	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22010069.	NM_003907.3(EIF2B5):c.515G>A (p.Arg172Gln) GRCh37: Chr3:183855694 GRCh38: Chr3:184137906	EIF2B5	R172Q	Vanishing white matter disease, not provided	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 217638410.	NM_001414.4(EIF2B1):c.13G>A (p.Glu5Lys) GRCh37: Chr12:124118092 GRCh38: Chr12:123633545	EIF2B1	E5K	not provided, Vanishing white matter disease	Uncertain significance (Feb 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209766011.	NM_003907.3(EIF2B5):c.1694delinsTTTCTTGTGCATCTCCACTACAGAGGAGCGGGGCATCTCCACTAC (p.Lys565fs) GRCh37: Chr3:183860879 GRCh38: Chr3:184143091	EIF2B5	K565fs	Vanishing white matter disease, not provided	Pathogenic (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 187852612.	NM_003907.3(EIF2B5):c.655C>G (p.Gln219Glu) GRCh37: Chr3:183855834 GRCh38: Chr3:184138046	EIF2B5	Q219E	Vanishing white matter disease	Uncertain significance	criteria provided, single submitter
Select item 180618313.	NM_003907.3(EIF2B5):c.1264C>T (p.Arg422Ter) GRCh37: Chr3:183859820 GRCh38: Chr3:184142032	EIF2B5	R422*	Vanishing white matter disease	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 180564214.	NM_014239.4(EIF2B2):c.1A>G (p.Met1Val) GRCh37: Chr14:75469694 GRCh38: Chr14:75002991	EIF2B2	M1V	Vanishing white matter disease	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 180479515.	NM_014239.4(EIF2B2):c.829C>T (p.Gln277Ter) GRCh37: Chr14:75473415 GRCh38: Chr14:75006712	EIF2B2	Q277*	Vanishing white matter disease	Likely pathogenic (Nov 25, 2022)	criteria provided, single submitter
Select item 180317516.	NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp) GRCh37: Chr2:27587666 GRCh38: Chr2:27364799	EIF2B4, GTF3C2-AS2	N225D, N236D, N400D, N416D, N430D, N431D, N451D, N452D	Vanishing white matter disease	Uncertain significance (May 14, 2021)	criteria provided, single submitter
Select item 170912117.	NM_003907.3(EIF2B5):c.667C>T (p.Arg223Cys) GRCh37: Chr3:183855846 GRCh38: Chr3:184138058	EIF2B5	R223C	Vanishing white matter disease	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 170912018.	NM_003907.3(EIF2B5):c.514C>T (p.Arg172Trp) GRCh37: Chr3:183855693 GRCh38: Chr3:184137905	EIF2B5	R172W	Vanishing white matter disease	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 170179719.	NM_003907.3(EIF2B5):c.1484A>G (p.Tyr495Cys) GRCh37: Chr3:183860329 GRCh38: Chr3:184142541	EIF2B5	Y495C	Ovarioleukodystrophy, Vanishing white matter disease	not provided	no assertion provided
Select item 169933320.	NM_001034116.2(EIF2B4):c.631G>T (p.Gly211Cys) GRCh37: Chr2:27590966 GRCh38: Chr2:27368099	EIF2B4	G16C, G180C, G196C, G210C, G211C, G231C, G232C, G5C	Vanishing white matter disease	Likely pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 169633721.	NM_001034116.2(EIF2B4):c.32-1G>T GRCh37: Chr2:27592787 GRCh38: Chr2:27369920	EIF2B4	D32Y	Vanishing white matter disease	Likely pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 169130622.	NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met) GRCh37: Chr1:45347381 GRCh38: Chr1:44881709	EIF2B3	I229M	Vanishing white matter disease, not specified	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 168576523.	NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser) GRCh37: Chr3:183858251 GRCh38: Chr3:184140463	EIF2B5	G297S	Vanishing white matter disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 156177324.	NM_014239.4(EIF2B2):c.672C>T (p.Ala224=) GRCh37: Chr14:75472643 GRCh38: Chr14:75005940	EIF2B2		not provided, Vanishing white matter disease	Likely benign (Nov 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149682025.	NM_020365.5(EIF2B3):c.71C>T (p.Pro24Leu) GRCh37: Chr1:45446770 GRCh38: Chr1:44981098	EIF2B3	P24L	Vanishing white matter disease, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147126326.	NM_020365.5(EIF2B3):c.497G>A (p.Arg166Lys) GRCh37: Chr1:45392369 GRCh38: Chr1:44926697	EIF2B3	R166K	Vanishing white matter disease, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137206327.	NM_003907.3(EIF2B5):c.170T>C (p.Phe57Ser) GRCh37: Chr3:183853343 GRCh38: Chr3:184135555	EIF2B5, LOC129938041	F57S	Vanishing white matter disease, not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133285728.	NM_003907.3(EIF2B5):c.2018T>C (p.Leu673Pro) GRCh37: Chr3:183862407 GRCh38: Chr3:184144619	EIF2B5	L673P	Vanishing white matter disease	Likely pathogenic	criteria provided, single submitter
Select item 132140429.	NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val) GRCh37: Chr3:183858515 GRCh38: Chr3:184140727	EIF2B5	I385V	Vanishing white matter disease, not specified	Uncertain significance (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128527130.	NM_020365.5(EIF2B3):c.674G>C (p.Arg225Pro) GRCh37: Chr1:45347394 GRCh38: Chr1:44881722	EIF2B3	R225P	Vanishing white matter disease	Pathogenic (Aug 10, 2021)	criteria provided, single submitter
Select item 121040031.	NM_003907.3(EIF2B5):c.2090del (p.Leu697fs) GRCh37: Chr3:183862478 GRCh38: Chr3:184144690	EIF2B5	L697fs	Vanishing white matter disease	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 120898132.	NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu) GRCh37: Chr3:183859836 GRCh38: Chr3:184142048	EIF2B5	P427L	not provided	Pathogenic/Likely pathogenic (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 120536133.	NM_014239.4(EIF2B2):c.285-1G>A GRCh37: Chr14:75470253 GRCh38: Chr14:75003550	EIF2B2		not provided, Vanishing white matter disease	Likely pathogenic (May 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 119934534.	NM_003907.3(EIF2B5):c.1325C>T (p.Thr442Met) GRCh37: Chr3:183860047 GRCh38: Chr3:184142259	EIF2B5	T442M	not provided, Vanishing white matter disease	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 119934435.	NM_003907.3(EIF2B5):c.385C>G (p.Arg129Gly) GRCh37: Chr3:183855472 GRCh38: Chr3:184137684	EIF2B5	R129G	Vanishing white matter disease	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119934336.	NM_003907.3(EIF2B5):c.920C>T (p.Ser307Leu) GRCh37: Chr3:183858282 GRCh38: Chr3:184140494	EIF2B5	S307L	Vanishing white matter disease	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119934237.	NM_003907.3(EIF2B5):c.1723G>A (p.Val575Ile) GRCh37: Chr3:183860908 GRCh38: Chr3:184143120	EIF2B5	V575I	Vanishing white matter disease	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 118494838.	NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) GRCh37: Chr3:183858275 GRCh38: Chr3:184140487	EIF2B5	M305L	not provided, Vanishing white matter disease	Pathogenic/Likely pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116196039.	NM_003907.3(EIF2B5):c.600T>C (p.Asn200=) GRCh37: Chr3:183855779 GRCh38: Chr3:184137991	EIF2B5		not provided	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 113541540.	NM_003907.3(EIF2B5):c.840G>A (p.Glu280=) GRCh37: Chr3:183857942 GRCh38: Chr3:184140154	EIF2B5		not provided	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 111217041.	NM_003907.3(EIF2B5):c.1143C>T (p.Pro381=) GRCh37: Chr3:183858505 GRCh38: Chr3:184140717	EIF2B5		not provided	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 103378542.	NM_001034116.2(EIF2B4):c.295G>A (p.Glu99Lys) GRCh37: Chr2:27591996 GRCh38: Chr2:27369129	EIF2B4	E119K, E120K, E84K, E99K, E68K, E98K	Vanishing white matter disease	Uncertain significance (Jan 24, 2018)	criteria provided, single submitter
Select item 103283643.	NM_020365.5(EIF2B3):c.442A>G (p.Lys148Glu) GRCh37: Chr1:45407190 GRCh38: Chr1:44941518	EIF2B3	K148E	not provided, Vanishing white matter disease	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103042644.	NM_001034116.2(EIF2B4):c.32-55C>T GRCh37: Chr2:27592841 GRCh38: Chr2:27369974	EIF2B4	P14S	Vanishing white matter disease	Uncertain significance (Jan 24, 2020)	criteria provided, single submitter
Select item 103030945.	NM_014239.4(EIF2B2):c.94G>T (p.Glu32Ter) GRCh37: Chr14:75469787 GRCh38: Chr14:75003084	EIF2B2	E32*	Vanishing white matter disease	Pathogenic (Nov 7, 2019)	criteria provided, single submitter
Select item 102867446.	NM_003907.3(EIF2B5):c.1485C>G (p.Tyr495Ter) GRCh37: Chr3:183860330 GRCh38: Chr3:184142542	EIF2B5	Y495*	Vanishing white matter disease	Pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 102799147.	NM_001034116.2(EIF2B4):c.90A>C (p.Glu30Asp) GRCh37: Chr2:27592402 GRCh38: Chr2:27369535	EIF2B4	E30D, E51D, E15D	Vanishing white matter disease	Uncertain significance (Apr 6, 2019)	criteria provided, single submitter
Select item 101868048.	NM_003907.3(EIF2B5):c.858G>C (p.Gln286His) GRCh37: Chr3:183858220 GRCh38: Chr3:184140432	EIF2B5	Q286H	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 99594249.	NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) GRCh37: Chr12:124111634 GRCh38: Chr12:123627087	EIF2B1	R147*	not provided, Vanishing white matter disease	Conflicting interpretations of pathogenicity (Mar 18, 2021)	criteria provided, conflicting interpretations
Select item 99266450.	NM_001034116.2(EIF2B4):c.866G>T (p.Ser289Ile) GRCh37: Chr2:27590343 GRCh38: Chr2:27367476	EIF2B4, GTF3C2-AS2	S258I, S274I, S288I, S289I, S309I, S310I, S83I, S94I	Vanishing white matter disease	Likely pathogenic	no assertion criteria provided
Select item 98968551.	NM_003907.3(EIF2B5):c.1451A>G (p.Asn484Ser) GRCh37: Chr3:183860296 GRCh38: Chr3:184142508	EIF2B5	N484S	Vanishing white matter disease	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98493952.	NM_014239.4(EIF2B2):c.42del (p.Ile15fs) GRCh37: Chr14:75469734 GRCh38: Chr14:75003031	EIF2B2	I15fs	Vanishing white matter disease	Pathogenic (Feb 20, 2020)	criteria provided, single submitter
Select item 98493853.	NM_014239.4(EIF2B2):c.3G>A (p.Met1Ile) GRCh37: Chr14:75469696 GRCh38: Chr14:75002993	EIF2B2	M1I	Vanishing white matter disease	Likely pathogenic (Feb 20, 2020)	criteria provided, single submitter
Select item 98293054.	NM_001414.4(EIF2B1):c.627G>C (p.Lys209Asn) GRCh37: Chr12:124109334 GRCh38: Chr12:123624787	EIF2B1	K209N	Vanishing white matter disease	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97826655.	NM_001034116.2(EIF2B4):c.551C>T (p.Pro184Leu) GRCh37: Chr2:27591278 GRCh38: Chr2:27368411	EIF2B4	P153L, P169L, P183L, P184L, P204L, P205L	Vanishing white matter disease	Likely pathogenic (Jul 5, 2018)	criteria provided, single submitter
Select item 97772156.	NM_014239.4(EIF2B2):c.910G>T (p.Glu304Ter) GRCh37: Chr14:75475745 GRCh38: Chr14:75009042	EIF2B2	E304*	Vanishing white matter disease	Likely pathogenic (Nov 5, 2021)	criteria provided, single submitter
Select item 97661557.	NM_003907.3(EIF2B5):c.134C>G (p.Ala45Gly) GRCh37: Chr3:183853307 GRCh38: Chr3:184135519	EIF2B5, LOC129938041	A45G	not provided, Vanishing white matter disease	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97628158.	NM_003907.3(EIF2B5):c.812A>G (p.Asp271Gly) GRCh37: Chr3:183857914 GRCh38: Chr3:184140126	EIF2B5	D271G	Vanishing white matter disease	Likely pathogenic (Aug 22, 2019)	criteria provided, single submitter
Select item 97588059.	NM_004840.3(ARHGEF6):c.2080G>A (p.Glu694Lys) GRCh37: ChrX:135754234 GRCh38: ChrX:136672075	ARHGEF6	E540K, E694K	Vanishing white matter disease	Uncertain significance (Dec 12, 2018)	criteria provided, single submitter
Select item 97271660.	NM_020365.5(EIF2B3):c.503T>C (p.Leu168Pro) GRCh37: Chr1:45392363 GRCh38: Chr1:44926691	EIF2B3	L168P	Vanishing white matter disease	Likely pathogenic (Jun 4, 2020)	criteria provided, single submitter
Select item 94220461.	NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln) GRCh37: Chr3:183857908 GRCh38: Chr3:184140120	EIF2B5	R269Q	not provided, Leukoencephalopathy with vanishing white matter 1, Vanishing white matter disease	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93217062.	NM_003907.3(EIF2B5):c.2009T>C (p.Phe670Ser) GRCh37: Chr3:183862398 GRCh38: Chr3:184144610	EIF2B5	F670S	Vanishing white matter disease	Pathogenic (May 10, 2019)	criteria provided, single submitter
Select item 93187563.	NM_001034116.2(EIF2B4):c.414dup (p.Ser139fs) GRCh37: Chr2:27591876-27591877 GRCh38: Chr2:27369009-27369010	EIF2B4	S108fs, S139fs, S160fs, S138fs, S124fs, S159fs	Vanishing white matter disease	Likely pathogenic (Oct 22, 2018)	criteria provided, single submitter
Select item 93104764.	NM_003907.3(EIF2B5):c.5C>T (p.Ala2Val) GRCh37: Chr3:183853178 GRCh38: Chr3:184135390	EIF2B5	A2V	Vanishing white matter disease, not provided	Conflicting interpretations of pathogenicity (Sep 24, 2021)	criteria provided, conflicting interpretations
Select item 93063565.	NM_001034116.2(EIF2B4):c.138GAA[2] (p.Lys49del) GRCh37: Chr2:27592346-27592348 GRCh38: Chr2:27369479-27369481	EIF2B4	K70del, K19del, K34del, K49del	Vanishing white matter disease, not provided	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93017966.	NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) GRCh37: Chr12:133310992 GRCh38: Chr12:132734406	ANKLE2	R624*	Vanishing white matter disease, Hypotonia, Intellectual disability	Pathogenic (May 29, 2020)	criteria provided, single submitter
Select item 91540667.	NM_001414.4(EIF2B1):c.524T>A (p.Val175Asp) GRCh37: Chr12:124110999 GRCh38: Chr12:123626452	EIF2B1	V175D	Vanishing white matter disease	Uncertain significance (May 3, 2020)	criteria provided, single submitter
Select item 90324568.	NM_003907.3(EIF2B5):c.*136C>T GRCh37: Chr3:183862867 GRCh38: Chr3:184145079	EIF2B5		Vanishing white matter disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90324469.	NM_003907.3(EIF2B5):c.*90T>C GRCh37: Chr3:183862821 GRCh38: Chr3:184145033	EIF2B5		Vanishing white matter disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90324370.	NM_003907.3(EIF2B5):c.2107-12G>A GRCh37: Chr3:183862660 GRCh38: Chr3:184144872	EIF2B5		not provided, Vanishing white matter disease	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 90238671.	NM_003907.3(EIF2B5):c.1913G>A (p.Arg638His) GRCh37: Chr3:183861930 GRCh38: Chr3:184144142	EIF2B5	R638H	not provided, Vanishing white matter disease	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90238572.	NM_003907.3(EIF2B5):c.1880C>T (p.Ala627Val) GRCh37: Chr3:183861897 GRCh38: Chr3:184144109	EIF2B5	A627V	Vanishing white matter disease	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 90238473.	NM_003907.3(EIF2B5):c.1712G>T (p.Cys571Phe) GRCh37: Chr3:183860897 GRCh38: Chr3:184143109	EIF2B5	C571F	not provided, Vanishing white matter disease	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90238374.	NM_003907.3(EIF2B5):c.1709C>T (p.Ser570Phe) GRCh37: Chr3:183860894 GRCh38: Chr3:184143106	EIF2B5	S570F	Vanishing white matter disease	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90070875.	NM_003907.3(EIF2B5):c.1592A>G (p.Gln531Arg) GRCh37: Chr3:183860612 GRCh38: Chr3:184142824	EIF2B5	Q531R	Vanishing white matter disease	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90070776.	NM_003907.3(EIF2B5):c.684+3G>A GRCh37: Chr3:183855866 GRCh38: Chr3:184138078	EIF2B5		Vanishing white matter disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90070677.	NM_003907.3(EIF2B5):c.662T>C (p.Leu221Pro) GRCh37: Chr3:183855841 GRCh38: Chr3:184138053	EIF2B5	L221P	Vanishing white matter disease	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89964478.	NM_003907.3(EIF2B5):c.*253T>C GRCh37: Chr3:183862984 GRCh38: Chr3:184145196	EIF2B5		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89956779.	NM_003907.3(EIF2B5):c.546G>A (p.Thr182=) GRCh37: Chr3:183855725 GRCh38: Chr3:184137937	EIF2B5		Vanishing white matter disease, not provided	Conflicting interpretations of pathogenicity (Feb 2, 2022)	criteria provided, conflicting interpretations
Select item 89956680.	NM_003907.3(EIF2B5):c.506+6G>C GRCh37: Chr3:183855599 GRCh38: Chr3:184137811	EIF2B5		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89956581.	NM_003907.3(EIF2B5):c.362G>A (p.Arg121Gln) GRCh37: Chr3:183855449 GRCh38: Chr3:184137661	EIF2B5	R121Q	Vanishing white matter disease, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89858082.	NM_001034116.2(EIF2B4):c.360G>A (p.Gly120=) GRCh37: Chr2:27591931 GRCh38: Chr2:27369064	EIF2B4		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89857983.	NM_001034116.2(EIF2B4):c.428G>A (p.Arg143His) GRCh37: Chr2:27591591 GRCh38: Chr2:27368724	EIF2B4	R128H, R142H, R143H, R164H, R112H, R163H	Vanishing white matter disease, not provided	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89857884.	NM_001034116.2(EIF2B4):c.491G>A (p.Arg164His) GRCh37: Chr2:27591528 GRCh38: Chr2:27368661	EIF2B4	R163H, R133H, R149H, R164H, R184H, R185H	Vanishing white matter disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89741385.	NM_001034116.2(EIF2B4):c.791C>A (p.Thr264Asn) GRCh37: Chr2:27590418 GRCh38: Chr2:27367551	EIF2B4, GTF3C2-AS2	T263N, T284N, T249N, T285N, T233N, T264N, T58N, T69N	not provided, Vanishing white matter disease	Likely benign (Mar 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89741286.	NM_001034116.2(EIF2B4):c.1129G>C (p.Val377Leu) GRCh37: Chr2:27589688 GRCh38: Chr2:27366821	EIF2B4, GTF3C2-AS2	V182L, V362L, V377L, V397L, V171L, V346L, V376L, V398L	Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89699287.	NM_015636.3(EIF2B4):c.-116G>C GRCh37: Chr2:27593297 GRCh38: Chr2:27370430	EIF2B4		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89699188.	NM_015636.3(EIF2B4):c.-90G>T GRCh37: Chr2:27593271 GRCh38: Chr2:27370404	EIF2B4		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89699089.	NM_015636.3(EIF2B4):c.-43G>A GRCh37: Chr2:27593224 GRCh38: Chr2:27370357	EIF2B4		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89698990.	NM_001034116.2(EIF2B4):c.-2C>T GRCh37: Chr2:27593183 GRCh38: Chr2:27370316	EIF2B4		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89698891.	NM_001034116.2(EIF2B4):c.61C>T (p.Pro21Ser) GRCh37: Chr2:27592757 GRCh38: Chr2:27369890	EIF2B4	P42S, P21S, P6S	Vanishing white matter disease	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89691292.	NM_001034116.2(EIF2B4):c.1191+13G>A GRCh37: Chr2:27589613 GRCh38: Chr2:27366746	EIF2B4, GTF3C2-AS2		Vanishing white matter disease, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 89691193.	NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln) GRCh37: Chr2:27587439 GRCh38: Chr2:27364572	EIF2B4, GTF3C2-AS2	R452Q, R488Q, R261Q, R436Q, R466Q, R487Q, R272Q, R467Q	not provided, Vanishing white matter disease, not specified	Conflicting interpretations of pathogenicity (Jul 26, 2023)	criteria provided, conflicting interpretations
Select item 89558494.	NM_001034116.2(EIF2B4):c.211+11G>A GRCh37: Chr2:27592270 GRCh38: Chr2:27369403	EIF2B4		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89558395.	NM_001034116.2(EIF2B4):c.239C>T (p.Ser80Leu) GRCh37: Chr2:27592052 GRCh38: Chr2:27369185	EIF2B4	S101L, S79L, S49L, S65L, S100L, S80L	Vanishing white matter disease	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 89558296.	NM_001034116.2(EIF2B4):c.335G>A (p.Arg112Gln) GRCh37: Chr2:27591956 GRCh38: Chr2:27369089	EIF2B4	R81Q, R132Q, R97Q, R111Q, R112Q, R133Q	not provided, Vanishing white matter disease, Inborn genetic diseases	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89550997.	NM_001034116.2(EIF2B4):c.1488T>C (p.Leu496=) GRCh37: Chr2:27587351 GRCh38: Chr2:27364484	EIF2B4, GTF3C2-AS2		Vanishing white matter disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88825998.	NM_014239.4(EIF2B2):c.96G>A (p.Glu32=) GRCh37: Chr14:75469789 GRCh38: Chr14:75003086	EIF2B2		not provided, Vanishing white matter disease	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 88825899.	NM_014239.4(EIF2B2):c.-30C>G GRCh37: Chr14:75469664 GRCh38: Chr14:75002961	EIF2B2		Vanishing white matter disease	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 887060100.	NM_014239.4(EIF2B2):c.*283T>C GRCh37: Chr14:75476174 GRCh38: Chr14:75009471	EIF2B2		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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