ClinVar for MedGen (Select 78649) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25063001.	NM_000027.4(AGA):c.3G>A (p.Met1Ile) GRCh37: Chr4:178363527 GRCh38: Chr4:177442373	AGA	M1I	Aspartylglucosaminuria	Likely pathogenic (May 4, 2023)	criteria provided, single submitter
Select item 25038252.	NM_000027.4(AGA):c.39del (p.Leu15fs) GRCh37: Chr4:178363491 GRCh38: Chr4:177442337	AGA	L15fs	Aspartylglucosaminuria	Likely pathogenic (Apr 14, 2023)	criteria provided, single submitter
Select item 24443023.	NM_000027.4(AGA):c.52C>T (p.Gln18Ter) GRCh37: Chr4:178363478 GRCh38: Chr4:177442324	AGA-DT, AGA	Q18*	Aspartylglucosaminuria	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24389164.	NM_000027.4(AGA):c.1033T>C (p.Cys345Arg) GRCh37: Chr4:178352870 GRCh38: Chr4:177431716	AGA	C335R, C345R	Aspartylglucosaminuria	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 24291185.	NM_000027.4(AGA):c.508-2A>C GRCh37: Chr4:178358675 GRCh38: Chr4:177437521	AGA		Aspartylglucosaminuria	Likely pathogenic (Jan 31, 2023)	criteria provided, single submitter
Select item 24221536.	NC_000004.11:g.(?_178352862)_(178363529_?)dup GRCh37: Chr4:178352862-178363529	AGA		Aspartylglucosaminuria	Uncertain significance (Jan 28, 2021)	criteria provided, single submitter
Select item 24221527.	NC_000004.11:g.(?_178351918)_(178357515_?)del GRCh37: Chr4:178351918-178357515	AGA		Aspartylglucosaminuria	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 24221518.	NC_000004.11:g.(?_178357420)_(178363667_?)del GRCh37: Chr4:178357420-178363667	AGA		Aspartylglucosaminuria	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 24199299.	NM_000027.4(AGA):c.165T>C (p.Asp55=) GRCh37: Chr4:178361543 GRCh38: Chr4:177440389	AGA		Aspartylglucosaminuria	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 241864810.	NM_000027.4(AGA):c.282-17A>T GRCh37: Chr4:178360859 GRCh38: Chr4:177439705	AGA		Aspartylglucosaminuria	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 241792311.	NM_000027.4(AGA):c.311A>T (p.Asp104Val) GRCh37: Chr4:178360813 GRCh38: Chr4:177439659	AGA	D104V	Aspartylglucosaminuria	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 241538112.	NM_000027.4(AGA):c.395-6C>A GRCh37: Chr4:178360017 GRCh38: Chr4:177438863	AGA		Aspartylglucosaminuria	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 241460413.	NM_000027.4(AGA):c.81G>T (p.Leu27=) GRCh37: Chr4:178363449 GRCh38: Chr4:177442295	AGA		Aspartylglucosaminuria	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 220359614.	NM_000027.4(AGA):c.1000G>T (p.Glu334Ter) GRCh37: Chr4:178352903 GRCh38: Chr4:177431749	AGA	E324, E334	Aspartylglucosaminuria	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 220185215.	NM_000027.4(AGA):c.763G>A (p.Ala255Thr) GRCh37: Chr4:178355579 GRCh38: Chr4:177434425	AGA	A245T, A255T	Aspartylglucosaminuria, Inborn genetic diseases	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219998216.	NM_000027.4(AGA):c.545A>G (p.Tyr182Cys) GRCh37: Chr4:178358636 GRCh38: Chr4:177437482	AGA	Y182C	Aspartylglucosaminuria	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 219987517.	NM_000027.4(AGA):c.557G>C (p.Gly186Ala) GRCh37: Chr4:178358624 GRCh38: Chr4:177437470	AGA	G186A	Aspartylglucosaminuria	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 219916318.	NM_000027.4(AGA):c.620T>C (p.Ile207Thr) GRCh37: Chr4:178358561 GRCh38: Chr4:177437407	AGA	I207T	Aspartylglucosaminuria	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 219068419.	NM_000027.4(AGA):c.623-11_623-10del GRCh37: Chr4:178357515-178357516 GRCh38: Chr4:177436361-177436362	AGA		Aspartylglucosaminuria	Benign (May 14, 2022)	criteria provided, single submitter
Select item 219057820.	NM_000027.4(AGA):c.938dup (p.Tyr313Ter) GRCh37: Chr4:178354369-178354370 GRCh38: Chr4:177433215-177433216	AGA	Y313, Y303	Aspartylglucosaminuria	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 218750221.	NM_000027.4(AGA):c.428A>G (p.Asn143Ser) GRCh37: Chr4:178359978 GRCh38: Chr4:177438824	AGA	N143S	Aspartylglucosaminuria, Inborn genetic diseases	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217953122.	NM_000027.4(AGA):c.809A>G (p.Tyr270Cys) GRCh37: Chr4:178354499 GRCh38: Chr4:177433345	AGA	Y260C, Y270C	Aspartylglucosaminuria	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 217562123.	NM_000027.4(AGA):c.1007dup (p.Asn336fs) GRCh37: Chr4:178352895-178352896 GRCh38: Chr4:177431741-177431742	AGA	N336fs, N326fs	Aspartylglucosaminuria	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 216751824.	NM_000027.4(AGA):c.340G>A (p.Val114Met) GRCh37: Chr4:178360784 GRCh38: Chr4:177439630	AGA	V114M	Aspartylglucosaminuria	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 216582125.	NM_000027.4(AGA):c.312T>G (p.Asp104Glu) GRCh37: Chr4:178360812 GRCh38: Chr4:177439658	AGA	D104E	Aspartylglucosaminuria	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 216480926.	NM_000027.4(AGA):c.14C>T (p.Ser5Leu) GRCh37: Chr4:178363516 GRCh38: Chr4:177442362	AGA-DT, AGA	S5L	Aspartylglucosaminuria	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 216417027.	NM_000027.4(AGA):c.914T>A (p.Ile305Lys) GRCh37: Chr4:178354394 GRCh38: Chr4:177433240	AGA	I295K, I305K	Aspartylglucosaminuria	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 216300628.	NM_000027.4(AGA):c.915A>G (p.Ile305Met) GRCh37: Chr4:178354393 GRCh38: Chr4:177433239	AGA	I295M, I305M	Aspartylglucosaminuria	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 216181129.	NM_000027.4(AGA):c.282-12A>G GRCh37: Chr4:178360854 GRCh38: Chr4:177439700	AGA		Aspartylglucosaminuria	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 216013330.	NM_000027.4(AGA):c.1000G>A (p.Glu334Lys) GRCh37: Chr4:178352903 GRCh38: Chr4:177431749	AGA	E324K, E334K	Aspartylglucosaminuria	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 215965831.	NM_000027.4(AGA):c.281+11C>T GRCh37: Chr4:178361416 GRCh38: Chr4:177440262	AGA		Aspartylglucosaminuria	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 215435132.	NM_000027.4(AGA):c.395-4C>G GRCh37: Chr4:178360015 GRCh38: Chr4:177438861	AGA		Aspartylglucosaminuria	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 214984833.	NM_000027.4(AGA):c.76C>T (p.Pro26Ser) GRCh37: Chr4:178363454 GRCh38: Chr4:177442300	AGA, AGA-DT	P26S	Aspartylglucosaminuria	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 214612934.	NM_000027.4(AGA):c.806+20G>A GRCh37: Chr4:178355516 GRCh38: Chr4:177434362	AGA		Aspartylglucosaminuria	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 214528035.	NM_000027.4(AGA):c.700C>T (p.Arg234Cys) GRCh37: Chr4:178355642 GRCh38: Chr4:177434488	AGA	R234C	Aspartylglucosaminuria	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 214404936.	NM_000027.4(AGA):c.914T>G (p.Ile305Arg) GRCh37: Chr4:178354394 GRCh38: Chr4:177433240	AGA	I295R, I305R	Aspartylglucosaminuria	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 214398337.	NM_000027.4(AGA):c.806+12T>A GRCh37: Chr4:178355524 GRCh38: Chr4:177434370	AGA		Aspartylglucosaminuria	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 214398238.	NM_000027.4(AGA):c.806+13dup GRCh37: Chr4:178355522-178355523 GRCh38: Chr4:177434368-177434369	AGA		Aspartylglucosaminuria	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 214326239.	NM_000027.4(AGA):c.745G>A (p.Asp249Asn) GRCh37: Chr4:178355597 GRCh38: Chr4:177434443	AGA	D249N, D239N	Aspartylglucosaminuria	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 214081340.	NM_000027.4(AGA):c.939C>T (p.Tyr313=) GRCh37: Chr4:178354369 GRCh38: Chr4:177433215	AGA		Aspartylglucosaminuria	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 214042141.	NM_000027.4(AGA):c.216T>C (p.Ser72=) GRCh37: Chr4:178361492 GRCh38: Chr4:177440338	AGA		Aspartylglucosaminuria	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 213640442.	NM_000027.4(AGA):c.411A>G (p.Gln137=) GRCh37: Chr4:178359995 GRCh38: Chr4:177438841	AGA		Aspartylglucosaminuria	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 212915043.	NM_000027.4(AGA):c.230G>A (p.Gly77Glu) GRCh37: Chr4:178361478 GRCh38: Chr4:177440324	AGA	G77E	Aspartylglucosaminuria	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 212625644.	NM_000027.4(AGA):c.489C>T (p.Cys163=) GRCh37: Chr4:178359917 GRCh38: Chr4:177438763	AGA		Aspartylglucosaminuria	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212432445.	NM_000027.4(AGA):c.292G>T (p.Asp98Tyr) GRCh37: Chr4:178360832 GRCh38: Chr4:177439678	AGA	D98Y	Aspartylglucosaminuria	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 212210046.	NM_000027.4(AGA):c.806+7C>A GRCh37: Chr4:178355529 GRCh38: Chr4:177434375	AGA		Aspartylglucosaminuria	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 211471047.	NM_000027.4(AGA):c.705A>C (p.Val235=) GRCh37: Chr4:178355637 GRCh38: Chr4:177434483	AGA		Aspartylglucosaminuria	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 210980448.	NM_000027.4(AGA):c.172G>T (p.Glu58Ter) GRCh37: Chr4:178361536 GRCh38: Chr4:177440382	AGA	E58*	Aspartylglucosaminuria	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 210808149.	NM_000027.4(AGA):c.55del (p.Ala19fs) GRCh37: Chr4:178363475 GRCh38: Chr4:177442321	AGA, AGA-DT	A19fs	Aspartylglucosaminuria	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 209912550.	NM_000027.4(AGA):c.279T>A (p.Asp93Glu) GRCh37: Chr4:178361429 GRCh38: Chr4:177440275	AGA	D93E	Aspartylglucosaminuria	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 209698051.	NM_000027.4(AGA):c.15G>T (p.Ser5=) GRCh37: Chr4:178363515 GRCh38: Chr4:177442361	AGA		Aspartylglucosaminuria	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209514552.	NM_000027.4(AGA):c.1007del (p.Asn336fs) GRCh37: Chr4:178352896 GRCh38: Chr4:177431742	AGA	N336fs, N326fs	Aspartylglucosaminuria	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 208232553.	NM_000027.4(AGA):c.935G>A (p.Ser312Asn) GRCh37: Chr4:178354373 GRCh38: Chr4:177433219	AGA	S302N, S312N	Aspartylglucosaminuria	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 206800454.	NM_000027.4(AGA):c.280G>C (p.Gly94Arg) GRCh37: Chr4:178361428 GRCh38: Chr4:177440274	AGA	G94R	Aspartylglucosaminuria	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 206480055.	NM_000027.4(AGA):c.306A>T (p.Val102=) GRCh37: Chr4:178360818 GRCh38: Chr4:177439664	AGA		Aspartylglucosaminuria	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206465256.	NM_000027.4(AGA):c.940+20T>C GRCh37: Chr4:178354348 GRCh38: Chr4:177433194	AGA		Aspartylglucosaminuria	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 206056357.	NM_000027.4(AGA):c.454C>A (p.Gln152Lys) GRCh37: Chr4:178359952 GRCh38: Chr4:177438798	AGA	Q152K	Aspartylglucosaminuria	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 205912958.	NM_000027.4(AGA):c.481C>T (p.Arg161Trp) GRCh37: Chr4:178359925 GRCh38: Chr4:177438771	AGA	R161W	Inborn genetic diseases, Aspartylglucosaminuria	Uncertain significance (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205821359.	NM_000027.4(AGA):c.290T>C (p.Met97Thr) GRCh37: Chr4:178360834 GRCh38: Chr4:177439680	AGA	M97T	Aspartylglucosaminuria	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 205513760.	NM_000027.4(AGA):c.534C>T (p.Tyr178=) GRCh37: Chr4:178358647 GRCh38: Chr4:177437493	AGA		Aspartylglucosaminuria	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205172061.	NM_000027.4(AGA):c.276G>A (p.Met92Ile) GRCh37: Chr4:178361432 GRCh38: Chr4:177440278	AGA	M92I	Aspartylglucosaminuria	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 204340662.	NM_000027.4(AGA):c.701G>A (p.Arg234His) GRCh37: Chr4:178355641 GRCh38: Chr4:177434487	AGA	R234H	Aspartylglucosaminuria	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 203979663.	NM_000027.4(AGA):c.197G>C (p.Arg66Thr) GRCh37: Chr4:178361511 GRCh38: Chr4:177440357	AGA	R66T	Aspartylglucosaminuria	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 203632264.	NM_000027.4(AGA):c.543C>A (p.Pro181=) GRCh37: Chr4:178358638 GRCh38: Chr4:177437484	AGA		Aspartylglucosaminuria	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203131965.	NM_000027.4(AGA):c.240T>C (p.Asp80=) GRCh37: Chr4:178361468 GRCh38: Chr4:177440314	AGA		Aspartylglucosaminuria	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 202986466.	NM_000027.4(AGA):c.665del (p.Thr222fs) GRCh37: Chr4:178357463 GRCh38: Chr4:177436309	AGA	T222fs	Aspartylglucosaminuria	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 202707167.	NM_000027.4(AGA):c.711C>T (p.Asp237=) GRCh37: Chr4:178355631 GRCh38: Chr4:177434477	AGA		Aspartylglucosaminuria	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 202102368.	NM_000027.4(AGA):c.508-14A>C GRCh37: Chr4:178358687 GRCh38: Chr4:177437533	AGA		Aspartylglucosaminuria	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 201575269.	NM_000027.4(AGA):c.79C>T (p.Leu27=) GRCh37: Chr4:178363451 GRCh38: Chr4:177442297	AGA		Aspartylglucosaminuria	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 200897370.	NM_000027.4(AGA):c.9del (p.Lys4fs) GRCh37: Chr4:178363521 GRCh38: Chr4:177442367	AGA-DT, AGA	K4fs	Aspartylglucosaminuria	Pathogenic (Nov 27, 2021)	criteria provided, single submitter
Select item 200880671.	NM_000027.4(AGA):c.402A>C (p.Thr134=) GRCh37: Chr4:178360004 GRCh38: Chr4:177438850	AGA		Aspartylglucosaminuria	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 200744272.	NM_000027.4(AGA):c.394+9T>C GRCh37: Chr4:178360721 GRCh38: Chr4:177439567	AGA		Aspartylglucosaminuria	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 200591873.	NM_000027.4(AGA):c.776A>T (p.Asn259Ile) GRCh37: Chr4:178355566 GRCh38: Chr4:177434412	AGA	N249I, N259I	Aspartylglucosaminuria	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 200590574.	NM_000027.4(AGA):c.243A>T (p.Glu81Asp) GRCh37: Chr4:178361465 GRCh38: Chr4:177440311	AGA	E81D	Aspartylglucosaminuria	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 199976875.	NM_000027.4(AGA):c.540A>C (p.Gly180=) GRCh37: Chr4:178358641 GRCh38: Chr4:177437487	AGA		Aspartylglucosaminuria	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 199096576.	NM_000027.4(AGA):c.874A>G (p.Arg292Gly) GRCh37: Chr4:178354434 GRCh38: Chr4:177433280	AGA	R282G, R292G	Aspartylglucosaminuria	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 198993477.	NM_000027.4(AGA):c.507+20A>T GRCh37: Chr4:178359879 GRCh38: Chr4:177438725	AGA		Aspartylglucosaminuria	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 198845378.	NM_000027.4(AGA):c.552A>C (p.Pro184=) GRCh37: Chr4:178358629 GRCh38: Chr4:177437475	AGA		Aspartylglucosaminuria	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 198534179.	NM_000027.4(AGA):c.623-4C>G GRCh37: Chr4:178357509 GRCh38: Chr4:177436355	AGA		Aspartylglucosaminuria	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 198180180.	NM_000027.4(AGA):c.46C>T (p.Leu16Phe) GRCh37: Chr4:178363484 GRCh38: Chr4:177442330	AGA, AGA-DT	L16F	Aspartylglucosaminuria	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 198003781.	NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer) GRCh37: Chr4:178360746-178360749 GRCh38: Chr4:177439592-177439595	AGA		Aspartylglucosaminuria	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 197934882.	NM_000027.4(AGA):c.281+12_281+13delinsAG GRCh37: Chr4:178361414-178361415 GRCh38: Chr4:177440260-177440261	AGA		Aspartylglucosaminuria	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 197856583.	NM_000027.4(AGA):c.508-7T>C GRCh37: Chr4:178358680 GRCh38: Chr4:177437526	AGA		Aspartylglucosaminuria	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 196654984.	NM_000027.4(AGA):c.865G>A (p.Val289Met) GRCh37: Chr4:178354443 GRCh38: Chr4:177433289	AGA	V279M, V289M	Aspartylglucosaminuria	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 196398585.	NM_000027.4(AGA):c.238G>C (p.Asp80His) GRCh37: Chr4:178361470 GRCh38: Chr4:177440316	AGA	D80H	Aspartylglucosaminuria	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 196275786.	NM_000027.4(AGA):c.159C>G (p.Ala53=) GRCh37: Chr4:178361549 GRCh38: Chr4:177440395	AGA		Aspartylglucosaminuria	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 196017087.	NM_000027.4(AGA):c.135G>A (p.Arg45=) GRCh37: Chr4:178361573 GRCh38: Chr4:177440419	AGA		Aspartylglucosaminuria	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 195430888.	NM_000027.4(AGA):c.104C>T (p.Pro35Leu) GRCh37: Chr4:178363426 GRCh38: Chr4:177442272	AGA-DT, AGA	P35L	Aspartylglucosaminuria	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 195356589.	NM_000027.4(AGA):c.281+15C>G GRCh37: Chr4:178361412 GRCh38: Chr4:177440258	AGA		Aspartylglucosaminuria	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 193173690.	NM_000027.4(AGA):c.623-3T>C GRCh37: Chr4:178357508 GRCh38: Chr4:177436354	AGA		Aspartylglucosaminuria	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 192178391.	NM_000027.4(AGA):c.128C>T (p.Ala43Val) GRCh37: Chr4:178361580 GRCh38: Chr4:177440426	AGA	A43V	Aspartylglucosaminuria	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 192127992.	NM_000027.4(AGA):c.807-3C>T GRCh37: Chr4:178354504 GRCh38: Chr4:177433350	AGA		Aspartylglucosaminuria	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 191099793.	NM_000027.4(AGA):c.810C>T (p.Tyr270=) GRCh37: Chr4:178354498 GRCh38: Chr4:177433344	AGA		Aspartylglucosaminuria	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 187906894.	NM_000027.4(AGA):c.1018G>T (p.Glu340Ter) GRCh37: Chr4:178352885 GRCh38: Chr4:177431731	AGA	E330, E340	Aspartylglucosaminuria	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 176628195.	NM_000027.4(AGA):c.923A>G (p.Asn308Ser) GRCh37: Chr4:178354385 GRCh38: Chr4:177433231	AGA	N298S, N308S	Aspartylglucosaminuria, not provided, Inborn genetic diseases	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171539196.	NM_000027.4(AGA):c.338G>A (p.Gly113Asp) GRCh37: Chr4:178360786 GRCh38: Chr4:177439632	AGA	G113D	Aspartylglucosaminuria	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 167454097.	NM_000027.4(AGA):c.127+13G>A GRCh37: Chr4:178363390 GRCh38: Chr4:177442236	AGA, AGA-DT		Aspartylglucosaminuria	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 166844498.	NM_000027.4(AGA):c.508-18C>G GRCh37: Chr4:178358691 GRCh38: Chr4:177437537	AGA		Aspartylglucosaminuria	Likely benign (Jun 18, 2021)	criteria provided, single submitter
Select item 166680199.	NM_000027.4(AGA):c.510T>C (p.Asn170=) GRCh37: Chr4:178358671 GRCh38: Chr4:177437517	AGA		Aspartylglucosaminuria	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 1665777100.	NM_000027.4(AGA):c.940+9T>C GRCh37: Chr4:178354359 GRCh38: Chr4:177433205	AGA		Aspartylglucosaminuria	Likely benign (Sep 28, 2022)	criteria provided, single submitter

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