ClinVar for MedGen (Select 324784) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24410251.	NM_003859.3(DPM1):c.152_154del (p.Phe51del) GRCh37: Chr20:49574907-49574909 GRCh38: Chr20:50958370-50958372	DPM1	F51del	Congenital disorder of glycosylation type 1E	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 24247822.	NC_000020.10:g.(?_49507942)_(49576762_?)del GRCh37: Chr20:49507942-49576762	MOCS3, DPM1, ADNP		Congenital disorder of glycosylation type 1E	Pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 24247813.	NC_000020.10:g.(?_49557382)_(49558683_?)dup GRCh37: Chr20:49557382-49558683	DPM1		Congenital disorder of glycosylation type 1E	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 24220494.	NM_003859.3(DPM1):c.572G>A (p.Arg191Gln) GRCh37: Chr20:49552791 GRCh38: Chr20:50936254	ADNP-AS1, DPM1	R168Q, R191Q, R218Q, R226Q	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 22027855.	NM_003859.3(DPM1):c.494+9A>G GRCh37: Chr20:49558559 GRCh38: Chr20:50942022	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 21755376.	NM_003859.3(DPM1):c.679-9_679-8dup GRCh37: Chr20:49551780-49551781 GRCh38: Chr20:50935243-50935244	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 21750127.	NM_003859.3(DPM1):c.62G>A (p.Ser21Asn) GRCh37: Chr20:49574999 GRCh38: Chr20:50958462	DPM1	S21N	Congenital disorder of glycosylation type 1E	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 21740798.	NM_003859.3(DPM1):c.30T>C (p.Pro10=) GRCh37: Chr20:49575031 GRCh38: Chr20:50958494	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 21682649.	NM_003859.3(DPM1):c.70C>G (p.Gln24Glu) GRCh37: Chr20:49574991 GRCh38: Chr20:50958454	DPM1	Q24E	Congenital disorder of glycosylation type 1E	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 216318010.	NM_003859.3(DPM1):c.16G>A (p.Val6Ile) GRCh37: Chr20:49575045 GRCh38: Chr20:50958508	DPM1	V6I	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216288211.	NM_003859.3(DPM1):c.38C>G (p.Ser13Cys) GRCh37: Chr20:49575023 GRCh38: Chr20:50958486	DPM1	S13C	Inborn genetic diseases, Congenital disorder of glycosylation type 1E	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215495812.	NM_003859.3(DPM1):c.429C>T (p.Val143=) GRCh37: Chr20:49558633 GRCh38: Chr20:50942096	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 215293313.	NM_003859.3(DPM1):c.398+20T>C GRCh37: Chr20:49562254 GRCh38: Chr20:50945717	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 215072514.	NM_003859.3(DPM1):c.477G>T (p.Leu159Phe) GRCh37: Chr20:49558585 GRCh38: Chr20:50942048	ADNP-AS1, DPM1	L159F	Congenital disorder of glycosylation type 1E	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 215000215.	NM_003859.3(DPM1):c.295+6T>C GRCh37: Chr20:49565160 GRCh38: Chr20:50948623	DPM1		Congenital disorder of glycosylation type 1E	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 214983516.	NM_003859.3(DPM1):c.22C>A (p.Arg8Ser) GRCh37: Chr20:49575039 GRCh38: Chr20:50958502	DPM1	R8S	Congenital disorder of glycosylation type 1E	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 214321017.	NM_003859.3(DPM1):c.409G>A (p.Glu137Lys) GRCh37: Chr20:49558653 GRCh38: Chr20:50942116	ADNP-AS1, DPM1	E137K	Congenital disorder of glycosylation type 1E	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 212426818.	NM_003859.3(DPM1):c.448G>A (p.Gly150Arg) GRCh37: Chr20:49558614 GRCh38: Chr20:50942077	DPM1, ADNP-AS1	G150R	Congenital disorder of glycosylation type 1E	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 211602719.	NM_003859.3(DPM1):c.679-12T>G GRCh37: Chr20:49551785 GRCh38: Chr20:50935248	DPM1, ADNP-AS1		Congenital disorder of glycosylation type 1E	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 210185720.	NM_003859.3(DPM1):c.632T>C (p.Met211Thr) GRCh37: Chr20:49552731 GRCh38: Chr20:50936194	ADNP-AS1, DPM1	M211T, M246T, M188T, M238T	Congenital disorder of glycosylation type 1E	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 209376021.	NM_003859.3(DPM1):c.678+6C>A GRCh37: Chr20:49552679 GRCh38: Chr20:50936142	DPM1, ADNP-AS1		Congenital disorder of glycosylation type 1E	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 208051622.	NM_003859.3(DPM1):c.303A>T (p.Ala101=) GRCh37: Chr20:49562453 GRCh38: Chr20:50945916	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 207766723.	NM_003859.3(DPM1):c.495-18G>C GRCh37: Chr20:49557488 GRCh38: Chr20:50940951	DPM1, ADNP-AS1		Congenital disorder of glycosylation type 1E	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 207488724.	NM_003859.3(DPM1):c.460G>A (p.Val154Ile) GRCh37: Chr20:49558602 GRCh38: Chr20:50942065	ADNP-AS1, DPM1	V154I	Congenital disorder of glycosylation type 1E	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 207446025.	NM_003859.3(DPM1):c.494+16dup GRCh37: Chr20:49558551-49558552 GRCh38: Chr20:50942014-50942015	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 207314326.	NM_003859.3(DPM1):c.406A>G (p.Lys136Glu) GRCh37: Chr20:49558656 GRCh38: Chr20:50942119	DPM1, ADNP-AS1	K136E	Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 206635927.	NM_003859.3(DPM1):c.18C>T (p.Val6=) GRCh37: Chr20:49575043 GRCh38: Chr20:50958506	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 206379028.	NM_003859.3(DPM1):c.10T>C (p.Leu4=) GRCh37: Chr20:49575051 GRCh38: Chr20:50958514	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 203992129.	NM_003859.3(DPM1):c.617G>C (p.Gly206Ala) GRCh37: Chr20:49552746 GRCh38: Chr20:50936209	DPM1, ADNP-AS1	G241A, G233A, G183A, G206A	Congenital disorder of glycosylation type 1E	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 203905830.	NM_003859.3(DPM1):c.440G>A (p.Arg147His) GRCh37: Chr20:49558622 GRCh38: Chr20:50942085	ADNP-AS1, DPM1	R147H	Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 203859331.	NM_003859.3(DPM1):c.161+20_161+22del GRCh37: Chr20:49574878-49574880 GRCh38: Chr20:50958341-50958343	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 202366632.	NM_003859.3(DPM1):c.495-1G>T GRCh37: Chr20:49557471 GRCh38: Chr20:50940934	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely pathogenic (Sep 5, 2022)	criteria provided, single submitter
Select item 201687633.	NM_003859.3(DPM1):c.358G>C (p.Asp120His) GRCh37: Chr20:49562398 GRCh38: Chr20:50945861	DPM1	D120H	Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 201615234.	NM_003859.3(DPM1):c.87G>C (p.Val29=) GRCh37: Chr20:49574974 GRCh38: Chr20:50958437	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 201463735.	NM_003859.3(DPM1):c.684A>C (p.Pro228=) GRCh37: Chr20:49551768 GRCh38: Chr20:50935231	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 201403736.	NM_003859.3(DPM1):c.46G>A (p.Glu16Lys) GRCh37: Chr20:49575015 GRCh38: Chr20:50958478	DPM1	E16K	Congenital disorder of glycosylation type 1E	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 201183337.	NM_003859.3(DPM1):c.495-15T>G GRCh37: Chr20:49557485 GRCh38: Chr20:50940948	DPM1, ADNP-AS1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 200717638.	NM_003859.3(DPM1):c.521T>G (p.Ile174Ser) GRCh37: Chr20:49557444 GRCh38: Chr20:50940907	DPM1, ADNP-AS1	I174S, I201S, I209S	Congenital disorder of glycosylation type 1E	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 200230539.	NM_003859.3(DPM1):c.397A>C (p.Arg133=) GRCh37: Chr20:49562275 GRCh38: Chr20:50945738	DPM1		Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 200109640.	NM_003859.3(DPM1):c.13G>C (p.Glu5Gln) GRCh37: Chr20:49575048 GRCh38: Chr20:50958511	DPM1	E5Q	Congenital disorder of glycosylation type 1E	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 199891641.	NM_003859.3(DPM1):c.527_533del (p.Leu176fs) GRCh37: Chr20:49557432-49557438 GRCh38: Chr20:50940895-50940901	DPM1, ADNP-AS1	L176fs, L211fs, L203fs	Congenital disorder of glycosylation type 1E	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 198249842.	NM_003859.3(DPM1):c.67C>G (p.Arg23Gly) GRCh37: Chr20:49574994 GRCh38: Chr20:50958457	DPM1	R23G	Congenital disorder of glycosylation type 1E	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 198002543.	NM_003859.3(DPM1):c.382A>G (p.Ile128Val) GRCh37: Chr20:49562290 GRCh38: Chr20:50945753	DPM1	I128V	Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 197224244.	NM_003859.3(DPM1):c.6C>T (p.Ala2=) GRCh37: Chr20:49575055 GRCh38: Chr20:50958518	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 196522745.	NM_003859.3(DPM1):c.18C>A (p.Val6=) GRCh37: Chr20:49575043 GRCh38: Chr20:50958506	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 189854646.	NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del) GRCh37: Chr20:49562412-49562414 GRCh38: Chr20:50945875-50945877	DPM1	I116del	Congenital disorder of glycosylation type 1E	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 171653647.	NM_003859.3(DPM1):c.94C>T (p.Pro32Ser) GRCh37: Chr20:49574967 GRCh38: Chr20:50958430	DPM1	P32S	Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 166996348.	NM_003859.3(DPM1):c.161+18C>T GRCh37: Chr20:49574882 GRCh38: Chr20:50958345	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 165197549.	NM_003859.3(DPM1):c.567A>G (p.Leu189=) GRCh37: Chr20:49552796 GRCh38: Chr20:50936259	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 164366250.	NM_003859.3(DPM1):c.219T>C (p.Asp73=) GRCh37: Chr20:49571765 GRCh38: Chr20:50955228	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 163596051.	NM_003859.3(DPM1):c.373-11T>C GRCh37: Chr20:49562310 GRCh38: Chr20:50945773	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Aug 2, 2021)	criteria provided, single submitter
Select item 160778052.	NM_003859.3(DPM1):c.564-20A>G GRCh37: Chr20:49552819 GRCh38: Chr20:50936282	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 160708853.	NM_003859.3(DPM1):c.564-24AT[3] GRCh37: Chr20:49552816-49552817 GRCh38: Chr20:50936279-50936280	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (May 22, 2021)	criteria provided, single submitter
Select item 158387254.	NM_003859.3(DPM1):c.563+15T>C GRCh37: Chr20:49557387 GRCh38: Chr20:50940850	DPM1, ADNP-AS1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 157817255.	NM_003859.3(DPM1):c.679-8T>A GRCh37: Chr20:49551781 GRCh38: Chr20:50935244	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 157354656.	NM_003859.3(DPM1):c.262-9T>C GRCh37: Chr20:49565208 GRCh38: Chr20:50948671	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 157113357.	NM_003859.3(DPM1):c.57G>T (p.Val19=) GRCh37: Chr20:49575004 GRCh38: Chr20:50958467	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Oct 18, 2021)	criteria provided, single submitter
Select item 156711958.	NM_003859.3(DPM1):c.678+9C>G GRCh37: Chr20:49552676 GRCh38: Chr20:50936139	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 156381759.	NM_003859.3(DPM1):c.726A>G (p.Gly242=) GRCh37: Chr20:49551726 GRCh38: Chr20:50935189	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 155888560.	NM_003859.3(DPM1):c.678+18A>C GRCh37: Chr20:49552667 GRCh38: Chr20:50936130	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 155782661.	NM_003859.3(DPM1):c.161+16_161+21del GRCh37: Chr20:49574879-49574884 GRCh38: Chr20:50958342-50958347	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 151295262.	NM_003859.3(DPM1):c.212C>T (p.Thr71Ile) GRCh37: Chr20:49571772 GRCh38: Chr20:50955235	DPM1	T71I	Congenital disorder of glycosylation type 1E	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 150802763.	NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn) GRCh37: Chr20:49562419 GRCh38: Chr20:50945882	DPM1	Y113N	Congenital disorder of glycosylation type 1E	Uncertain significance (Sep 22, 2021)	criteria provided, single submitter
Select item 150075764.	NM_003859.3(DPM1):c.494+2T>C GRCh37: Chr20:49558566 GRCh38: Chr20:50942029	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 149914165.	NM_003859.3(DPM1):c.296-9C>G GRCh37: Chr20:49562469 GRCh38: Chr20:50945932	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 149721566.	NM_003859.3(DPM1):c.692T>C (p.Phe231Ser) GRCh37: Chr20:49551760 GRCh38: Chr20:50935223	DPM1, ADNP-AS1	F266S, F208S, F231S, F258S	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 149362367.	NM_003859.3(DPM1):c.49C>G (p.Leu17Val) GRCh37: Chr20:49575012 GRCh38: Chr20:50958475	DPM1	L17V	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 148362368.	NM_003859.3(DPM1):c.656A>G (p.Gln219Arg) GRCh37: Chr20:49552707 GRCh38: Chr20:50936170	ADNP-AS1, DPM1	Q196R, Q219R, Q246R, Q254R	Congenital disorder of glycosylation type 1E	Uncertain significance (Sep 6, 2021)	criteria provided, single submitter
Select item 148247469.	NM_003859.3(DPM1):c.355G>A (p.Ala119Thr) GRCh37: Chr20:49562401 GRCh38: Chr20:50945864	DPM1	A119T	Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 147858470.	NM_003859.3(DPM1):c.11T>G (p.Leu4Trp) GRCh37: Chr20:49575050 GRCh38: Chr20:50958513	DPM1	L4W	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 147645271.	NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) GRCh37: Chr20:49552714 GRCh38: Chr20:50936177	ADNP-AS1, DPM1	A194T, A252T, A244T, A217T	Congenital disorder of glycosylation type 1E	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 146372772.	NM_003859.3(DPM1):c.261+8A>G GRCh37: Chr20:49571715 GRCh38: Chr20:50955178	DPM1		Congenital disorder of glycosylation type 1E	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 145580873.	NM_003859.3(DPM1):c.52del (p.Glu18fs) GRCh37: Chr20:49575009 GRCh38: Chr20:50958472	DPM1	E18fs	Congenital disorder of glycosylation type 1E	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 145491674.	NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer) GRCh37: Chr20:49571810-49571811 GRCh38: Chr20:50955273-50955274	DPM1		Congenital disorder of glycosylation type 1E	Pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 144461675.	NM_003859.3(DPM1):c.571C>T (p.Arg191Ter) GRCh37: Chr20:49552792 GRCh38: Chr20:50936255	ADNP-AS1, DPM1	R218, R226, R191, R168	Congenital disorder of glycosylation type 1E	Pathogenic (Jun 11, 2022)	criteria provided, single submitter
Select item 143710976.	NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys) GRCh37: Chr20:49552743 GRCh38: Chr20:50936206	ADNP-AS1, DPM1	Y184C, Y207C, Y234C, Y242C	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 143347577.	NM_003859.3(DPM1):c.706T>C (p.Tyr236His) GRCh37: Chr20:49551746 GRCh38: Chr20:50935209	ADNP-AS1, DPM1	Y213H, Y236H, Y263H, Y271H	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 143301778.	NM_003859.3(DPM1):c.63T>A (p.Ser21Arg) GRCh37: Chr20:49574998 GRCh38: Chr20:50958461	DPM1	S21R	Congenital disorder of glycosylation type 1E, Inborn genetic diseases	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143097379.	NM_003859.3(DPM1):c.647G>A (p.Arg216Gln) GRCh37: Chr20:49552716 GRCh38: Chr20:50936179	ADNP-AS1, DPM1	R216Q, R243Q, R193Q, R251Q	Congenital disorder of glycosylation type 1E	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 142678280.	NM_003859.3(DPM1):c.617G>T (p.Gly206Val) GRCh37: Chr20:49552746 GRCh38: Chr20:50936209	ADNP-AS1, DPM1	G183V, G233V, G241V, G206V	Congenital disorder of glycosylation type 1E	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 142287981.	NM_003859.3(DPM1):c.127A>G (p.Ile43Val) GRCh37: Chr20:49574934 GRCh38: Chr20:50958397	DPM1	I43V	Congenital disorder of glycosylation type 1E	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 140164982.	NM_003859.3(DPM1):c.109C>T (p.Arg37Cys) GRCh37: Chr20:49574952 GRCh38: Chr20:50958415	DPM1	R37C	Congenital disorder of glycosylation type 1E	Uncertain significance (Oct 8, 2021)	criteria provided, single submitter
Select item 139907983.	NM_003859.3(DPM1):c.122C>G (p.Pro41Arg) GRCh37: Chr20:49574939 GRCh38: Chr20:50958402	DPM1	P41R	Congenital disorder of glycosylation type 1E	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 139331684.	NM_003859.3(DPM1):c.35G>A (p.Arg12Lys) GRCh37: Chr20:49575026 GRCh38: Chr20:50958489	DPM1	R12K	Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 138674785.	NM_003859.3(DPM1):c.671T>A (p.Ile224Asn) GRCh37: Chr20:49552692 GRCh38: Chr20:50936155	ADNP-AS1, DPM1	I259N, I201N, I251N, I224N	Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 137595186.	NM_003859.3(DPM1):c.496C>T (p.Arg166Cys) GRCh37: Chr20:49557469 GRCh38: Chr20:50940932	ADNP-AS1, DPM1	R201C, R166C, R193C	Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 135842087.	NM_003859.3(DPM1):c.296-5T>C GRCh37: Chr20:49562465 GRCh38: Chr20:50945928	DPM1		Congenital disorder of glycosylation type 1E	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 135262288.	NM_003859.3(DPM1):c.142G>A (p.Val48Met) GRCh37: Chr20:49574919 GRCh38: Chr20:50958382	DPM1	V48M	Congenital disorder of glycosylation type 1E	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 134959489.	NM_003859.3(DPM1):c.678+15C>G GRCh37: Chr20:49552670 GRCh38: Chr20:50936133	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 134944190.	NM_003859.3(DPM1):c.46G>C (p.Glu16Gln) GRCh37: Chr20:49575015 GRCh38: Chr20:50958478	DPM1	E16Q	Congenital disorder of glycosylation type 1E	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 132816591.	NM_003859.3(DPM1):c.439C>T (p.Arg147Cys) GRCh37: Chr20:49558623 GRCh38: Chr20:50942086	ADNP-AS1, DPM1	R147C	Congenital disorder of glycosylation type 1E	Conflicting interpretations of pathogenicity (Aug 2, 2022)	criteria provided, conflicting interpretations
Select item 116125592.	NM_003859.3(DPM1):c.459T>C (p.Gly153=) GRCh37: Chr20:49558603 GRCh38: Chr20:50942066	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 8, 2020)	criteria provided, single submitter
Select item 113930993.	NM_003859.3(DPM1):c.232T>C (p.Leu78=) GRCh37: Chr20:49571752 GRCh38: Chr20:50955215	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 113834294.	NM_003859.3(DPM1):c.658T>C (p.Leu220=) GRCh37: Chr20:49552705 GRCh38: Chr20:50936168	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (May 3, 2020)	criteria provided, single submitter
Select item 113106095.	NM_003859.3(DPM1):c.679-12T>A GRCh37: Chr20:49551785 GRCh38: Chr20:50935248	DPM1, ADNP-AS1		Congenital disorder of glycosylation type 1E	Likely benign (Oct 19, 2020)	criteria provided, single submitter
Select item 113077296.	NM_003859.3(DPM1):c.117C>T (p.Asn39=) GRCh37: Chr20:49574944 GRCh38: Chr20:50958407	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 112379097.	NM_003859.3(DPM1):c.702T>C (p.Arg234=) GRCh37: Chr20:49551750 GRCh38: Chr20:50935213	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Apr 14, 2020)	criteria provided, single submitter
Select item 111848198.	NM_003859.3(DPM1):c.552A>C (p.Thr184=) GRCh37: Chr20:49557413 GRCh38: Chr20:50940876	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 110680899.	NM_003859.3(DPM1):c.296-10T>C GRCh37: Chr20:49562470 GRCh38: Chr20:50945933	DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jan 3, 2020)	criteria provided, single submitter
Select item 1104710100.	NM_003859.3(DPM1):c.494+9A>C GRCh37: Chr20:49558559 GRCh38: Chr20:50942022	ADNP-AS1, DPM1		Congenital disorder of glycosylation type 1E	Likely benign (Jul 19, 2022)	criteria provided, single submitter

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