Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)	SNV Germline	Chr3:49422223	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Inborn genetic diseases Glycine encephalopathy 1 Glycine encephalopathy 2	Criteria Provided Conflicting Classifications	CA256146	rs_121964982	4 SubmittersRCV000012755 RCV000622444 RCV004566725 RCV003230354
NM_000481.4(AMT):c.125A>G (p.His42Arg)	SNV Germline	Chr3:49422237	Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 2 Glycine encephalopathy 1	Criteria Provided Single Submitter	CA341155	rs_121964983	3 SubmittersRCV000012756 RCV003230355 RCV004566726
NM_000481.4(AMT):c.826G>C (p.Asp276His)	SNV Germline	Chr3:49419022	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA256150	rs_121964984	4 SubmittersRCV000012758 RCV003230356
NM_000481.4(AMT):c.959G>A (p.Arg320His)	SNV Germline	Chr3:49417892	Pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 2 Glycine encephalopathy 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341159	rs_121964985	15 SubmittersRCV000012759 RCV003230357 RCV004566727 RCV001090581
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)	SNV Germline	Chr3:49419382	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 2 Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA256155	rs_121964986	4 SubmittersRCV000012760 RCV003230358 RCV004566728
NM_000481.4(AMT):c.878-1G>A	SNV Germline	Chr3:49417974	Pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1 Glycine encephalopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA341164	rs_181134220	7 SubmittersRCV000012761 RCV004566729 RCV003230359
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)	SNV Germline	Chr9:6588417	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA341165	rs_121964974	4 SubmittersRCV000012762 RCV004566730
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	SNV Germline	Chr9:6589230	Pathogenic	Non-ketotic hyperglycinemia Generalized epilepsy Global developmental delay Obesity Glycine encephalopathy 1 GLDC-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341167	rs_121964976	15 SubmittersRCV000012765 RCV000449527 RCV004566732 RCV003398490 RCV001582476
NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg)	SNV Germline	Chr9:6554703	Pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	No Assertion Criteria Provided	CA256161	rs_386833549	2 SubmittersRCV000012766 RCV004566733
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val)	SNV Germline	Chr9:6553420	Pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA256164	rs_121964977	4 SubmittersRCV000012767 RCV004566734
NM_000170.3(GLDC):c.2T>C (p.Met1Thr)	SNV Germline	Chr9:6645498	Pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Single Submitter	CA256167	rs_121964978	3 SubmittersRCV000012768 RCV004566735
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)	SNV Germline	Chr9:6595109	Pathogenic	Non-ketotic hyperglycinemia Condition: not provided Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA256170	rs_121964979	6 SubmittersRCV000012769 RCV000482511 RCV004566736
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)	SNV Germline	Chr9:6554768	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA256173	rs_121964980	8 SubmittersRCV000012770 RCV001659692 RCV004566737
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)	SNV Germline	Chr9:6604637	Pathogenic	Non-ketotic hyperglycinemia Condition: not provided Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA263279	rs_386833517	8 SubmittersRCV000049445 RCV000404397 RCV004566898
NM_000170.3(GLDC):c.1111C>G (p.His371Asp)	SNV Not provided	Chr9:6602153	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263283	rs_386833519	1 SubmittersRCV000049447
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)	SNV Germline	Chr9:6592982	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263287	rs_386833521	4 SubmittersRCV000049449
NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn)	SNV Not provided	Chr9:6592933	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263291	rs_386833523	1 SubmittersRCV000049451
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)	SNV Germline	Chr9:6592870	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia GLDC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA263294	rs_386833524	6 SubmittersRCV000049452 RCV003407429
NM_000170.3(GLDC):c.1402-1G>C	SNV Not provided	Chr9:6592224	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263297	rs_386833525	1 SubmittersRCV000049453
NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr)	SNV Not provided	Chr9:6588686	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263302	rs_386833528	1 SubmittersRCV000049456
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)	SNV Germline	Chr9:6588629	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA263305	rs_386833529	4 SubmittersRCV000049457
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)	SNV Germline	Chr9:6645324	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA263308	rs_386833530	3 SubmittersRCV000049458 RCV004018964
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)	SNV Germline	Chr9:6587205	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263311	rs_386833531	5 SubmittersRCV000049459
NM_000170.3(GLDC):c.1926+1G>A	SNV Not provided	Chr9:6565353	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263318	rs_386833534	1 SubmittersRCV000049462
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe)	SNV Not provided	Chr9:6558680	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263319	rs_386833535	1 SubmittersRCV000049463
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)	SNV Germline	Chr9:6558659	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263322	rs_386833536	3 SubmittersRCV000049464 RCV000430656
NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter)	SNV Not provided	Chr9:6558615	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263325	rs_386833537	1 SubmittersRCV000049465
NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro)	SNV Not provided	Chr9:6556275	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263328	rs_386833538	1 SubmittersRCV000049466
NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala)	SNV Not provided	Chr9:6556257	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263331	rs_386833539	1 SubmittersRCV000049467
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile)	SNV Not provided	Chr9:6556250	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263334	rs_386833540	1 SubmittersRCV000049468
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg)	SNV Not provided	Chr9:6556173	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263338	rs_386833542	1 SubmittersRCV000049470
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)	SNV Germline	Chr9:6556159	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA263342	rs_386833544	3 SubmittersRCV000049472
NM_000170.3(GLDC):c.2203-2A>G	SNV Germline	Chr9:6554783	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263345	rs_386833545	5 SubmittersRCV000049473
NM_000170.3(GLDC):c.2258A>C (p.His753Pro)	SNV Not provided	Chr9:6554726	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263347	rs_386833547	1 SubmittersRCV000049475
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg)	SNV Unknown	Chr9:6554700	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA344726	rs_386833550	2 SubmittersRCV000049478
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)	SNV Germline	Chr9:6554691	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA263353	rs_386833551	3 SubmittersRCV000049479 RCV000419990
NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu)	SNV Not provided	Chr9:6554678	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263356	rs_386833552	1 SubmittersRCV000049480
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)	SNV Germline	Chr9:6554673	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263359	rs_386833553	5 SubmittersRCV000049481
NM_000170.3(GLDC):c.2316-1G>A	SNV Germline	Chr9:6553510	Pathogenic	Non-ketotic hyperglycinemia Condition: not provided GLDC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA263362	rs_386833554	9 SubmittersRCV000049482 RCV000734579 RCV003415814
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)	SNV Germline	Chr9:6553501	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications	CA263363	rs_386833555	3 SubmittersRCV000049483 RCV003155059
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)	SNV Germline	Chr9:6553457	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA263366	rs_386833556	5 SubmittersRCV000049484
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)	SNV Germline	Chr9:6553411	Pathogenic	Non-ketotic hyperglycinemia Condition: not provided GLDC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA263369	rs_386833557	4 SubmittersRCV000049485 RCV002243691 RCV003390751
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)	SNV Germline	Chr9:6645255	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA263373	rs_386833559	2 SubmittersRCV000049487
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)	SNV Germline	Chr9:6550883	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263376	rs_386833560	4 SubmittersRCV000049488
NM_000170.3(GLDC):c.255+1G>A	SNV Not provided	Chr9:6645244	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263385	rs_386833563	1 SubmittersRCV000049491
NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter)	SNV Not provided	Chr9:6540142	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263386	rs_386833564	1 SubmittersRCV000049492
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)	SNV Germline	Chr9:6540109	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Conflicting Classifications	CA263389	rs_386833565	6 SubmittersRCV000049493 RCV004566900
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)	SNV Germline	Chr9:6540077	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263392	rs_386833566	3 SubmittersRCV000049494
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)	SNV Germline	Chr9:6540060	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA263395	rs_386833567	2 SubmittersRCV000049495
NM_000170.3(GLDC):c.2838+5G>A	SNV Germline	Chr9:6536059	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications	CA263398	rs_386833568	4 SubmittersRCV000049496 RCV003230385
NM_000170.3(GLDC):c.2839-1G>C	SNV Not provided	Chr9:6534789	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263399	rs_386833569	1 SubmittersRCV000049497
NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu)	SNV Not provided	Chr9:6534781	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263400	rs_386833570	1 SubmittersRCV000049498
NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly)	SNV Not provided	Chr9:6534731	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263406	rs_386833573	1 SubmittersRCV000049500
NM_000170.3(GLDC):c.2919+1G>A	SNV Germline	Chr9:6534707	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263410	rs_386833575	4 SubmittersRCV000049502
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp)	SNV Not provided	Chr9:6620259	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263411	rs_386833576	1 SubmittersRCV000049503
NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe)	SNV Not provided	Chr9:6620241	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263414	rs_386833577	1 SubmittersRCV000049504
NM_000170.3(GLDC):c.449A>C (p.Asn150Thr)	SNV Not provided	Chr9:6620205	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263417	rs_386833578	1 SubmittersRCV000049505
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)	SNV Germline	Chr9:6620197	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA263420	rs_386833579	2 SubmittersRCV000049506
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)	SNV Germline	Chr9:6610345	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided GLDC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA263423	rs_386833580	6 SubmittersRCV000049507 RCV000999135 RCV003974936
NM_000170.3(GLDC):c.513G>C (p.Gly171=)	SNV Not provided	Chr9:6610314	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263426	rs_386833581	1 SubmittersRCV000049508
NM_000170.3(GLDC):c.560C>A (p.Thr187Lys)	SNV Not provided	Chr9:6610267	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263429	rs_386833582	1 SubmittersRCV000049509
NM_000170.3(GLDC):c.605C>T (p.Ala202Val)	SNV Not provided	Chr9:6610222	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263432	rs_386833583	1 SubmittersRCV000049510
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)	SNV Germline	Chr9:6606599	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263435	rs_386833585	4 SubmittersRCV000049511
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)	SNV Germline	Chr9:6605186	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263439	rs_386833587	12 SubmittersRCV000049513 RCV001528427
NM_000170.3(GLDC):c.808G>T (p.Glu270Ter)	SNV Not provided	Chr9:6605184	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263442	rs_386833588	1 SubmittersRCV000049514
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)	SNV Germline	Chr9:6605145	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263445	rs_386833589	3 SubmittersRCV000049515
NM_000170.3(GLDC):c.861+1G>T	SNV Not provided	Chr9:6605130	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263447	rs_386833590	1 SubmittersRCV000049516
NM_000170.3(GLDC):c.887T>G (p.Leu296Arg)	SNV Not provided	Chr9:6604759	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263448	rs_386833591	1 SubmittersRCV000049517
NM_032316.3(NICN1):c.*2328C>T	SNV Germline	Chr3:49422505	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Neurodevelopmental delay Glycine encephalopathy 1	Criteria Provided Conflicting Classifications	CA263561	rs_386833677	5 SubmittersRCV000049637 RCV002273949 RCV004566901
NM_000481.4(AMT):c.139G>T (p.Gly47Trp)	SNV Not provided	Chr3:49422223	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263562	rs_121964982	1 SubmittersRCV000049638
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	SNV Germline	Chr3:49422145	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided See cases Glycine encephalopathy 1 Glycine encephalopathy 2	Criteria Provided Multiple Submitters No Conflicts	CA263566	rs_386833679	11 SubmittersRCV000049640 RCV001090584 RCV002251953 RCV004566903 RCV004566902
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	SNV Germline	Chr3:49422132	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts	CA263569	rs_386833680	7 SubmittersRCV000049641 RCV002274890 RCV004566904
NM_000481.4(AMT):c.259-1G>C	SNV Not provided	Chr3:49421573	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263572	rs_386833681	1 SubmittersRCV000049642
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)	SNV Unknown	Chr3:49420248	Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Single Submitter	CA263573	rs_386833682	2 SubmittersRCV000049643 RCV004566905
NM_000481.4(AMT):c.471+2T>C	SNV Germline	Chr3:49420209	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA263578	rs_386833684	7 SubmittersRCV000049645
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)	SNV Germline	Chr3:49419282	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA263583	rs_386833689	2 SubmittersRCV000049650
NM_000481.4(AMT):c.887G>A (p.Arg296His)	SNV Germline	Chr3:49417964	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA263586	rs_386833690	8 SubmittersRCV000049651 RCV000436156
NM_004483.5(GCSH):c.425-1G>T	SNV Not provided	Chr16:81082964	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided	CA263872	rs_386833859	1 SubmittersRCV000049828
NM_000170.3(GLDC):c.1665+1G>A	SNV Germline	Chr9:6588617	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_267602258	1 SubmittersRCV003513608
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)	SNV Germline	Chr8:1771553	Pathogenic/Likely pathogenic	Condition: not provided Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 8 Inborn genetic diseases Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA314014	rs_144495588	8 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV004525896
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)	SNV Germline	ChrX:100407263	Likely pathogenic	Condition: not provided Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9	Criteria Provided Single Submitter	CA316348	rs_796052815	2 SubmittersRCV000188368 RCV001199422
NM_000481.4(AMT):c.870G>A (p.Trp290Ter)	SNV Germline	Chr3:49418978	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA275980	rs_797045082	1 SubmittersRCV000190566
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)	SNV Germline	Chr9:6587249	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA277515	rs_772871471	4 SubmittersRCV000198720
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)	SNV Germline	Chr9:6595046	Conflicting classifications of pathogenicity	not specified Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4980799	rs_144090917	11 SubmittersRCV000243554 RCV000299139 RCV001706208
NM_000170.3(GLDC):c.2053-5C>G	SNV Germline	Chr9:6556307	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications	CA4980404	rs_140877566	9 SubmittersRCV000223973 RCV000552095 RCV001701793
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)	SNV Germline	Chr3:49417607	Conflicting classifications of pathogenicity	Condition: not provided not specified Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA2398133	rs_141246107	5 SubmittersRCV000224719 RCV000238619 RCV001084238
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)	SNV Germline	Chr9:6558671	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Smith-Magenis Syndrome-like Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA4980455	rs_201135624	9 SubmittersRCV000284142 RCV000491317 RCV001565401 RCV002518556 RCV003479081
NM_000481.4(AMT):c.354G>A (p.Leu118=)	SNV Germline	Chr3:49420328	Conflicting classifications of pathogenicity	not specified Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA2398387	rs_145194293	7 SubmittersRCV000244017 RCV000638295 RCV001084069
NM_000170.3(GLDC):c.498T>C (p.Pro166=)	SNV Germline	Chr9:6610329	Conflicting classifications of pathogenicity	not specified Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4981111	rs_150193069	10 SubmittersRCV000245433 RCV000711820 RCV001083509
NM_000170.3(GLDC):c.319A>G (p.Met107Val)	SNV Germline	Chr9:6644629	Conflicting classifications of pathogenicity	not specified Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4981208	rs_138454333	7 SubmittersRCV000253432 RCV000401836 RCV001610566
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)	SNV Germline	Chr16:81090603	Pathogenic/Likely pathogenic	Condition: not provided Non-ketotic hyperglycinemia Multiple mitochondrial dysfunctions syndrome 7 GCSH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8186794	rs_769222264	4 SubmittersRCV000254729 RCV001359426 RCV003236577 RCV003417868
NM_004483.5(GCSH):c.1A>G (p.Met1Val)	SNV Germline	Chr16:81096278	Pathogenic/Likely pathogenic	Condition: not provided Non-ketotic hyperglycinemia Multiple mitochondrial dysfunctions syndrome 7 GCSH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10588627	rs_886039730	4 SubmittersRCV000255962 RCV001804993 RCV003236578 RCV003401220
NM_000170.3(GLDC):c.2665+1G>C	SNV Germline	Chr9:6540050	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4980128	rs_149070244	6 SubmittersRCV000411816 RCV000353440
NM_000481.4(AMT):c.195C>T (p.His65=)	SNV Germline	Chr3:49422167	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA2398449	rs_145243292	3 SubmittersRCV000284432 RCV003430885
NM_000481.4(AMT):c.152C>T (p.Ala51Val)	SNV Germline	Chr3:49422210	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA2398463	rs_34812788	4 SubmittersRCV000398839 RCV000710536
NM_000481.4(AMT):c.84C>T (p.Cys28=)	SNV Germline	Chr3:49422367	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA2398492	rs_763223038	4 SubmittersRCV000287819 RCV003437097
NM_032316.3(NICN1):c.*2307G>C	SNV Germline	Chr3:49422526	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA2398538	rs_544461335	4 SubmittersRCV000345162
NM_000481.4(AMT):c.961G>A (p.Val321Met)	SNV Germline	Chr3:49417890	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA2398193	rs_149457059	3 SubmittersRCV000330007
NM_000481.4(AMT):c.153G>A (p.Ala51=)	SNV Germline	Chr3:49422209	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA2398462	rs_768510463	3 SubmittersRCV000346232
NM_000481.4(AMT):c.858C>A (p.Gly286=)	SNV Germline	Chr3:49418990	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided AMT-related disorder	Criteria Provided Conflicting Classifications	CA2398223	rs_367726589	4 SubmittersRCV000316251 RCV003430884 RCV003910368
NM_000481.4(AMT):c.513C>T (p.Gly171=)	SNV Germline	Chr3:49419747	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia AMT-related disorder	Criteria Provided Conflicting Classifications	CA2398338	rs_555045517	3 SubmittersRCV000285636 RCV003972464
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)	SNV Germline	Chr3:49419023	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA2398230	rs_144241950	4 SubmittersRCV000373179
NM_000170.3(GLDC):c.150G>A (p.Ser50=)	SNV Germline	Chr9:6645350	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4981285	rs_768354829	2 SubmittersRCV000335650
NM_000170.3(GLDC):c.2919C>T (p.Leu973=)	SNV Germline	Chr9:6534708	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4980022	rs_113736090	5 SubmittersRCV000391824 RCV001577027
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)	SNV Germline	Chr9:6536172	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4980086	rs_144937031	7 SubmittersRCV000362547 RCV000711818 RCV001778954
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)	SNV Germline	Chr9:6588657	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4980608	rs_779537709	2 SubmittersRCV000344808
NM_000170.3(GLDC):c.1156-7C>G	SNV Germline	Chr9:6595126	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided GLDC-related disorder	Criteria Provided Conflicting Classifications	CA4980824	rs_150095531	11 SubmittersRCV000268617 RCV000859591 RCV003957872
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)	SNV Germline	Chr9:6645448	Conflicting classifications of pathogenicity	not specified Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4981296	rs_535143891	9 SubmittersRCV000609377 RCV000359890 RCV001535403
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)	SNV Germline	Chr9:6536219	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia GLDC-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4980097	rs_141152043	8 SubmittersRCV000277386 RCV003897818 RCV001200494
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)	SNV Germline	Chr9:6556206	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4980372	rs_117460214	4 SubmittersRCV000324125 RCV003480621
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)	SNV Germline	Chr9:6533092	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided Inborn genetic diseases GLDC-related disorder	Criteria Provided Conflicting Classifications	CA4979981	rs_138640017	7 SubmittersRCV000391827 RCV001311339 RCV002524602 RCV003950304
NM_000170.3(GLDC):c.1483-15G>C	SNV Germline	Chr9:6589307	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4980677	rs_371777070	2 SubmittersRCV000391608
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)	SNV Germline	Chr9:6610328	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4981110	rs_191905539	8 SubmittersRCV000412474 RCV000624546 RCV001556638
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)	SNV Germline	Chr9:6533142	Conflicting classifications of pathogenicity	Abnormal brain morphology Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications	CA4979992	rs_772574530	4 SubmittersRCV000454245 RCV000532564 RCV002307498
NM_000170.3(GLDC):c.2919+5G>T	SNV Germline	Chr9:6534703	Pathogenic/Likely pathogenic	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA4980018	rs_768091555	2 SubmittersRCV000483730 RCV003512048
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)	SNV Germline	Chr3:49420332	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Glycine encephalopathy 2	Criteria Provided Conflicting Classifications	CA2398389	rs_769468125	4 SubmittersRCV000495928 RCV003230522
NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter)	SNV Germline	Chr9:6550828	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA372875885	rs_1554643354	1 SubmittersRCV000499785
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)	SNV Germline	ChrX:100407129	Likely pathogenic	Condition: not provided Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9	Criteria Provided Single Submitter	CA414002662	rs_1555985142	2 SubmittersRCV000523094 RCV001199428
NM_000481.4(AMT):c.685G>C (p.Asp229His)	SNV Germline	Chr3:49419271	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA352790066	rs_1553638463	1 SubmittersRCV000533799
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)	SNV Germline	Chr9:6588665	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided GLDC-related disorder	Criteria Provided Conflicting Classifications	CA4980610	rs_140516872	4 SubmittersRCV000544389 RCV001288616 RCV003925633
NM_000170.3(GLDC):c.1580+2T>G	SNV Germline	Chr9:6589193	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA372893196	rs_1554646710	4 SubmittersRCV000560119
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)	SNV Germline	Chr9:6550845	Pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA372876006	rs_1554643360	4 SubmittersRCV000537902 RCV003238766
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)	SNV Germline	Chr9:6550885	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4980196	rs_141806715	5 SubmittersRCV000549494 RCV001568807
NM_000170.3(GLDC):c.1926+5G>A	SNV Germline	Chr9:6565349	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA658657857	rs_1554644678	2 SubmittersRCV000534696
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)	SNV Germline	Chr9:6592172	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4980705	rs_760562478	3 SubmittersRCV000530223 RCV001584264
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)	SNV Germline	Chr9:6533116	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4979987	rs_146045718	5 SubmittersRCV000711819 RCV001084230
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)	SNV Germline	Chr9:6533125	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided GLDC-related disorder	Criteria Provided Conflicting Classifications	CA4979990	rs_142004524	5 SubmittersRCV000546170 RCV001564449 RCV003935442
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)	SNV Germline	Chr9:6556242	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications	CA4980386	rs_147275962	9 SubmittersRCV000711816 RCV001086012 RCV001701032
NM_000170.3(GLDC):c.619C>G (p.Leu207Val)	SNV Germline	Chr9:6610208	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4981079	rs_142181803	3 SubmittersRCV000528350 RCV000992085
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)	SNV Germline	Chr9:6540102	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA372883626	rs_1430968530	4 SubmittersRCV000526391
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)	SNV Germline	Chr9:6553442	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4980246	rs_567167527	3 SubmittersRCV000560893
NM_000170.3(GLDC):c.2310C>A (p.Ile770=)	SNV Germline	Chr9:6554674	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications	CA463584687	rs_765661419	3 SubmittersRCV000529827 RCV002265791
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro)	SNV Germline	Chr9:6565391	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA372884488	rs_763517274	1 SubmittersRCV000550531
NM_000170.3(GLDC):c.1665+7A>T	SNV Germline	Chr9:6588611	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4980597	rs_759573888	2 SubmittersRCV000556935
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)	SNV Germline	Chr9:6645310	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided Inborn genetic diseases GLDC-related disorder	Criteria Provided Conflicting Classifications	CA4981276	rs_141601131	5 SubmittersRCV000526664 RCV001550875 RCV002527767 RCV003942780
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)	SNV Germline	Chr16:81096226	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA8186830	rs_540997326	3 SubmittersRCV000858103 RCV000554714
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)	SNV Germline	Chr9:6604775	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA372896071	rs_141014950	2 SubmittersRCV000588380 RCV001860120
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)	SNV Germline	Chr9:6620217	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts	CA4981155	rs_376578742	2 SubmittersRCV001389830
NM_000481.4(AMT):c.91-9C>T	SNV Germline	Chr3:49422280	Conflicting classifications of pathogenicity	not specified Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA2398477	rs_761235679	3 SubmittersRCV000604351 RCV000638290
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)	SNV Germline	Chr9:6604591	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	No Assertion Criteria Provided	CA372895254	rs_1554648060	3 SubmittersRCV000616020 RCV001702691
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)	SNV Germline	Chr9:6602147	Conflicting classifications of pathogenicity	Inborn genetic diseases Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4980859	rs_150171524	9 SubmittersRCV000622676 RCV000666682 RCV002275092
NM_000481.4(AMT):c.1112G>A (p.Arg371His)	SNV Germline	Chr3:49417640	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA2398140	rs_147006017	5 SubmittersRCV000638268 RCV001090580
NM_000481.4(AMT):c.101G>A (p.Arg34His)	SNV Germline	Chr3:49422261	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia AMT-related disorder not specified	Criteria Provided Conflicting Classifications	CA2398472	rs_138259479	5 SubmittersRCV000638292 RCV003937920 RCV003479181
NM_000481.4(AMT):c.696+2T>A	SNV Germline	Chr3:49419258	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA352790036	rs_541594122	1 SubmittersRCV000638279
NM_000481.4(AMT):c.635T>C (p.Val212Ala)	SNV Germline	Chr3:49419321	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided Inborn genetic diseases not specified Glycine encephalopathy 2	Criteria Provided Conflicting Classifications	CA2398293	rs_201141125	9 SubmittersRCV000638278 RCV001312022 RCV002529876 RCV003155257 RCV003492123
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)	SNV Germline	Chr9:6556229	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4980383	rs_150943866	4 SubmittersRCV000638270 RCV001785687 RCV002528902
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)	SNV Germline	Chr9:6644686	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications	CA4981226	rs_770826242	3 SubmittersRCV000638267 RCV001552259
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr)	SNV Germline	Chr9:6553502	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA372879067	rs_1554643619	1 SubmittersRCV000638271
NM_000170.3(GLDC):c.1145G>A (p.Cys382Tyr)	SNV Germline	Chr9:6602119	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter	CA4980851	rs_759133707	1 SubmittersRCV000638285
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)	SNV Germline	Chr9:6553473	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications	CA4980253	rs_367781728	5 SubmittersRCV000711817 RCV001085670
NM_000481.4(AMT):c.696+1G>A	SNV Unknown	Chr3:49419259	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1553638460	1 SubmittersRCV000664663
NM_000481.4(AMT):c.212A>C (p.His71Pro)	SNV Germline	Chr3:49422150	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Conflicting Classifications		rs_1053797603	3 SubmittersRCV000666301 RCV004568499
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	SNV Germline	Chr3:49419292	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts		rs_781466698	6 SubmittersRCV000668200 RCV004568513
NM_000481.4(AMT):c.555C>T (p.Pro185=)	SNV Germline	Chr3:49419401	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Inborn genetic diseases AMT-related disorder	Criteria Provided Conflicting Classifications		rs_144790394	5 SubmittersRCV000669300 RCV002531223 RCV003892519
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)	SNV Germline	Chr3:49419745	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Conflicting Classifications		rs_1366977126	3 SubmittersRCV000674715 RCV004568568
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)	SNV Germline	Chr3:49419764	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_558998633	4 SubmittersRCV000673783
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	SNV Germline	Chr3:49421551	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts		rs_1126422	5 SubmittersRCV000674000 RCV004568563
NM_032316.3(NICN1):c.*2325C>T	SNV Germline	Chr3:49422508	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications		rs_753743263	3 SubmittersRCV000671316 RCV003403561
NM_000481.4(AMT):c.794G>A (p.Arg265His)	SNV Germline	Chr3:49419054	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided Glycine encephalopathy 2	Criteria Provided Multiple Submitters No Conflicts		rs_757918826	6 SubmittersRCV000665764 RCV002255159 RCV003492125
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	SNV Germline	Chr3:49419055	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Conflicting Classifications		rs_779483959	3 SubmittersRCV000672693 RCV004568549
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)	SNV Germline	Chr3:49417665	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications		rs_1167886830	4 SubmittersRCV000669683 RCV003403556
NM_000481.4(AMT):c.1033+2T>C	SNV Germline	Chr3:49417816	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1553638247	2 SubmittersRCV000666875
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	SNV Germline	Chr3:49417893	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 2	Criteria Provided Multiple Submitters No Conflicts		rs_866625610	5 SubmittersRCV000672268 RCV003492126
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)	SNV Germline	Chr9:6533097	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1554641505	2 SubmittersRCV000670173
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)	SNV Germline	Chr9:6533117	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Conflicting Classifications		rs_749512886	3 SubmittersRCV000669902 RCV004568533
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)	SNV Germline	Chr9:6533118	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Conflicting Classifications		rs_1288008254	3 SubmittersRCV000670172 RCV003989577
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)	SNV Germline	Chr9:6534775	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided not specified Inborn genetic diseases Glycine encephalopathy 1	Criteria Provided Conflicting Classifications		rs_147472391	13 SubmittersRCV000669842 RCV000992083 RCV002271558 RCV002531239 RCV003889956
NM_000170.3(GLDC):c.2838+2T>C	SNV Germline	Chr9:6536062	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554641887	3 SubmittersRCV000674862
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)	SNV Germline	Chr9:6540138	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications		rs_753759723	3 SubmittersRCV000673148 RCV004526006
NM_000170.3(GLDC):c.2315+2T>A	SNV Germline	Chr9:6554667	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554643738	3 SubmittersRCV000673967
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)	SNV Germline	Chr9:6554746	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_749882600	2 SubmittersRCV000670618
NM_000170.3(GLDC):c.1927-4G>A	SNV Germline	Chr9:6558688	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_576723612	5 SubmittersRCV000670066 RCV003424273
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)	SNV Germline	Chr9:6592910	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_777365335	2 SubmittersRCV000669887
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)	SNV Germline	Chr9:6602156	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_570097430	3 SubmittersRCV000670163
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)	SNV Germline	Chr9:6604613	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_373263202	2 SubmittersRCV000670628
NM_000170.3(GLDC):c.2458-1G>T	SNV Unknown	Chr9:6550915	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1554643370	1 SubmittersRCV000671221
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)	SNV Germline	Chr9:6554687	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_750384225	2 SubmittersRCV000670171
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)	SNV Germline	Chr9:6554703	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_386833549	4 SubmittersRCV000671712 RCV001805794
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)	SNV Germline	Chr9:6558641	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1301895668	2 SubmittersRCV000664632
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)	SNV Germline	Chr9:6565392	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_751025203	2 SubmittersRCV000670170
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)	SNV Germline	Chr9:6588677	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1286882965	2 SubmittersRCV000670145
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr9:6602180	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_10975674	2 SubmittersRCV000670165
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)	SNV Germline	Chr9:6605193	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1554648117	3 SubmittersRCV000674678
NM_000170.3(GLDC):c.335-1G>C	SNV Germline	Chr9:6620320	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554649675	2 SubmittersRCV000666250
NM_000170.3(GLDC):c.334+1G>T	SNV Germline	Chr9:6644613	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_978795483	4 SubmittersRCV000674197 RCV003128722
NM_000170.3(GLDC):c.334+1G>C	SNV Germline	Chr9:6644613	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_978795483	2 SubmittersRCV000671228
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)	SNV Germline	Chr9:6645496	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554652870	2 SubmittersRCV000666921
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)	SNV Germline	Chr9:6536104	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_758029533	5 SubmittersRCV000666803 RCV001092996
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)	SNV Germline	Chr9:6540132	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_925908885	2 SubmittersRCV000671933
NM_000170.3(GLDC):c.2458-2A>G	SNV Germline	Chr9:6550916	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1259354298	2 SubmittersRCV000670072
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)	SNV Germline	Chr9:6553508	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_373618804	2 SubmittersRCV000670154
NM_000170.3(GLDC):c.1850+1G>T	SNV Germline	Chr9:6587140	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_774099283	2 SubmittersRCV000673215
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)	SNV Germline	Chr9:6588619	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_765384489	4 SubmittersRCV000670183 RCV001311342 RCV003226359
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)	SNV Germline	Chr9:6588631	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_751822565	3 SubmittersRCV000670627 RCV002253555
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter)	SNV Unknown	Chr9:6595081	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1226098656	1 SubmittersRCV000670150
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)	SNV Germline	Chr9:6595092	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_767200188	2 SubmittersRCV000670162
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)	SNV Germline	Chr9:6645255	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_386833559	4 SubmittersRCV000671778 RCV002225714 RCV004526747
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)	SNV Germline	Chr9:6533100	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1406713104	4 SubmittersRCV000664682
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)	SNV Germline	Chr9:6536173	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_759933539	2 SubmittersRCV000670164
NM_000170.3(GLDC):c.2666-1G>A	SNV Germline	Chr9:6536237	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1429861000	2 SubmittersRCV000671620
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)	SNV Germline	Chr9:6587253	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1164241828	3 SubmittersRCV000664595
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)	SNV Germline	Chr9:6587268	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1554646529	3 SubmittersRCV000669298 RCV000760511
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)	SNV Germline	Chr9:6588432	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1554646634	2 SubmittersRCV000674854
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val)	SNV Unknown	Chr9:6588641	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1554646653	1 SubmittersRCV000666420
NM_000170.3(GLDC):c.1401+1G>A	SNV Germline	Chr9:6592850	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1211616091	3 SubmittersRCV000674732
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)	SNV Germline	Chr9:6592871	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_761957837	3 SubmittersRCV000667293 RCV002507157
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)	SNV Germline	Chr9:6604735	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1207147043	5 SubmittersRCV000670325 RCV003153796
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)	SNV Germline	Chr9:6605192	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_138484426	2 SubmittersRCV000672714
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)	SNV Germline	Chr9:6645476	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia GLDC-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1163356968	3 SubmittersRCV000669243 RCV003983163
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)	SNV Germline	Chr9:6645477	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1477860542	2 SubmittersRCV000668297
NM_000481.4(AMT):c.164G>A (p.Trp55Ter)	SNV Germline	Chr3:49422198	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1559530507	1 SubmittersRCV000685122
NM_000170.3(GLDC):c.1580G>C (p.Ser527Thr)	SNV Germline	Chr9:6589195	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1247180998	1 SubmittersRCV000704561
NM_000170.3(GLDC):c.329C>A (p.Pro110His)	SNV Germline	Chr9:6644619	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_371491621	2 SubmittersRCV000697476 RCV001766509
NM_000170.3(GLDC):c.2986C>T (p.Gln996Ter)	SNV Germline	Chr9:6533094	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1296191006	1 SubmittersRCV000697307
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)	SNV Germline	Chr9:6556173	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_386833542	2 SubmittersRCV000704610
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)	SNV Germline	Chr3:49417965	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts		rs_1056820947	3 SubmittersRCV000813481 RCV004569693
NM_000481.4(AMT):c.256C>T (p.Gln86Ter)	SNV Germline	Chr3:49422106	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1575308888	1 SubmittersRCV000817660
NM_000481.4(AMT):c.148G>T (p.Val50Leu)	SNV Germline	Chr3:49422214	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_148917929	3 SubmittersRCV000799186
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)	SNV Germline	Chr9:6536188	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_188269735	6 SubmittersRCV000792883 RCV001092997
NM_000170.3(GLDC):c.2455A>G (p.Lys819Glu)	SNV Germline	Chr9:6553370	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1587922096	1 SubmittersRCV000824302
NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)	SNV Germline	Chr9:6558680	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_386833535	2 SubmittersRCV000815807 RCV000999128
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr)	SNV Germline	Chr9:6588429	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1366947118	1 SubmittersRCV000806344
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)	SNV Germline	Chr9:6592935	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_151163582	2 SubmittersRCV000810838
NM_000170.3(GLDC):c.538C>T (p.Gln180Ter)	SNV Germline	Chr9:6610289	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_762989914	1 SubmittersRCV000805605
NM_000481.4(AMT):c.339+1G>A	SNV Germline	Chr3:49421491	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1575308129	1 SubmittersRCV000806703
NM_000170.3(GLDC):c.2919+1G>C	SNV Germline	Chr9:6534707	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_386833575	2 SubmittersRCV000795305
NM_000170.3(GLDC):c.1058+2T>A	SNV Germline	Chr9:6604586	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1587959976	1 SubmittersRCV000797113
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)	SNV Germline	Chr9:6553497	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_149600380	4 SubmittersRCV000876654 RCV001562642
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)	SNV Germline	Chr9:6589221	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_377219563	4 SubmittersRCV000877138 RCV001593111
NM_000170.3(GLDC):c.1926+6T>C	SNV Germline	Chr9:6565348	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_200007891	4 SubmittersRCV000873659 RCV001571786
NM_000170.3(GLDC):c.1851-9C>G	SNV Germline	Chr9:6565438	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_377751310	2 SubmittersRCV000878923 RCV001556099
NM_000481.4(AMT):c.589G>C (p.Asp197His)	SNV Germline	Chr3:49419367	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_200550585	3 SubmittersRCV000945389
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)	SNV Germline	Chr9:6534753	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_146339375	5 SubmittersRCV000952179 RCV001311340
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)	SNV Germline	Chr9:6534764	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_148540696	3 SubmittersRCV000954004 RCV001558339
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)	SNV Germline	Chr9:6645310	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_141601131	3 SubmittersRCV000889398 RCV001572559
NM_000170.3(GLDC):c.78G>C (p.Ser26=)	SNV Germline	Chr9:6645422	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_915226152	4 SubmittersRCV000893331 RCV001585859
NM_000170.3(GLDC):c.255+8C>T	SNV Germline	Chr9:6645237	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_202086134	2 SubmittersRCV000920673 RCV001815458
NM_000170.3(GLDC):c.96G>T (p.Pro32=)	SNV Germline	Chr9:6645404	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1430526811	3 SubmittersRCV000930592
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)	SNV Germline	Chr9:6534726	Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Single Submitter		rs_1587908683	2 SubmittersRCV000985036 RCV003992429
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)	SNV Germline	Chr3:49421520	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_753221440	2 SubmittersRCV000987272
NM_000170.3(GLDC):c.2838+1G>A	SNV Unknown	Chr9:6536063	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_542056100	1 SubmittersRCV000988140
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)	SNV Unknown	ChrX:100406638	Likely pathogenic	Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9	No Assertion Criteria Provided		rs_1928356260	1 SubmittersRCV001199425
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)	SNV Germline	ChrX:100406679	Likely pathogenic	Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9	No Assertion Criteria Provided		rs_1928358562	1 SubmittersRCV001199424
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)	SNV Unknown	ChrX:100406926	Likely pathogenic	Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9	No Assertion Criteria Provided		rs_748611349	1 SubmittersRCV001199426
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)	SNV Germline	ChrX:100407475	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9 Developmental and epileptic encephalopathy, 9 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1928407580	3 SubmittersRCV001199421 RCV001368522 RCV003117667
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)	SNV Germline	ChrX:100407819	Likely pathogenic	Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9	No Assertion Criteria Provided		rs_1928431321	1 SubmittersRCV001199419
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)	SNV Germline	ChrX:100407996	Likely pathogenic	Non-ketotic hyperglycinemia Developmental and epileptic encephalopathy, 9	No Assertion Criteria Provided		rs_1928446616	1 SubmittersRCV001199418
NM_000170.3(GLDC):c.1850+8C>A	SNV Germline	Chr9:6587133	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1326427792	2 SubmittersRCV000999129 RCV002067633
NM_000170.3(GLDC):c.989A>G (p.His330Arg)	SNV Germline	Chr9:6604657	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1267445922	2 SubmittersRCV000999132 RCV003387529
NM_000170.3(GLDC):c.714-8C>G	SNV Germline	Chr9:6605286	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_746399537	2 SubmittersRCV001433228 RCV000999133
NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg)	SNV Germline	Chr9:6592220	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1587950355	1 SubmittersRCV000995554
NM_000170.3(GLDC):c.2052+1G>A	SNV Germline	Chr9:6558558	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_765906340	2 SubmittersRCV001004546
NM_000170.3(GLDC):c.1059-1G>T	SNV Unknown	Chr9:6602206	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided		rs_1587958061	1 SubmittersRCV001004547
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)	SNV Germline	Chr9:6587200	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_141875337	3 SubmittersRCV001034170 RCV001546695
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)	SNV Germline	Chr9:6536147	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1817122724	1 SubmittersRCV001068202
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)	SNV Germline	Chr9:6550841	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_770743220	1 SubmittersRCV001053812
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)	SNV Germline	Chr9:6587163	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1251538998	2 SubmittersRCV001042986
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)	SNV Germline	Chr9:6604605	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818691758	1 SubmittersRCV001050271
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)	SNV Germline	Chr9:6610335	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_746124283	2 SubmittersRCV001042054
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter)	SNV Germline	Chr9:6645411	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1819724531	1 SubmittersRCV001063324
NM_000170.3(GLDC):c.471-1G>C	SNV Germline	Chr9:6610357	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818826951	1 SubmittersRCV001060642
NM_000170.3(GLDC):c.2315+1G>T	SNV Germline	Chr9:6554668	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1252460597	1 SubmittersRCV001041567
NM_000170.3(GLDC):c.713+1G>A	SNV Germline	Chr9:6606591	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_903653902	1 SubmittersRCV001052086
NM_000481.4(AMT):c.665G>A (p.Arg222His)	SNV Germline	Chr3:49419291	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia Glycine encephalopathy 1 Glycine encephalopathy 2	Criteria Provided Conflicting Classifications		rs_562695274	4 SubmittersRCV001090582 RCV001383888 RCV004570318 RCV003992441
NM_000170.3(GLDC):c.2397C>A (p.Thr799=)	SNV Germline	Chr9:6553428	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_778396953	2 SubmittersRCV001090488 RCV002554814
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)	SNV Germline	Chr9:6556188	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_779434645	2 SubmittersRCV001095655
NM_000170.3(GLDC):c.1072A>T (p.Lys358Ter)	SNV Germline	Chr9:6602192	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818624667	1 SubmittersRCV001095654
NM_000481.4(AMT):c.750C>T (p.Asn250=)	SNV Germline	Chr3:49419098	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_141324034	2 SubmittersRCV001149056
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)	SNV Germline	Chr9:6533155	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1052505781	2 SubmittersRCV001168026
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)	SNV Germline	Chr9:6536160	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_374022098	2 SubmittersRCV001168798
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)	SNV Germline	Chr9:6556207	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_367750112	2 SubmittersRCV001167485
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)	SNV Germline	Chr9:6556210	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_769158507	2 SubmittersRCV001167486
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)	SNV Germline	Chr9:6558583	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia GLDC-related disorder	Criteria Provided Conflicting Classifications		rs_372604935	3 SubmittersRCV001167488 RCV003963106
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)	SNV Germline	Chr9:6587161	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_765268971	2 SubmittersRCV001168096
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)	SNV Germline	Chr9:6589245	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_145665442	2 SubmittersRCV001168862
NM_000170.3(GLDC):c.2570-10T>C	SNV Germline	Chr9:6540156	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided GLDC-related disorder	Criteria Provided Conflicting Classifications		rs_373987254	4 SubmittersRCV001168799 RCV001536195 RCV003938541
NM_000170.3(GLDC):c.1402-14T>G	SNV Germline	Chr9:6592237	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_376719104	2 SubmittersRCV001165977
NM_000170.3(GLDC):c.861+11C>G	SNV Germline	Chr9:6605120	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_757254927	2 SubmittersRCV001167544
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)	SNV Germline	Chr9:6620259	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_386833576	2 SubmittersRCV001216319
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)	SNV Germline	Chr9:6534748	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1410625190	1 SubmittersRCV001205237
NM_000170.3(GLDC):c.1059-1G>C	SNV Germline	Chr9:6602206	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1587958061	1 SubmittersRCV001206860
NM_000170.3(GLDC):c.2052+1G>C	SNV Germline	Chr9:6558558	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_765906340	1 SubmittersRCV001223275
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)	SNV Germline	Chr9:6550874	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1275684568	4 SubmittersRCV001237271
NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter)	SNV Germline	Chr9:6587226	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818289368	1 SubmittersRCV001238061
NM_000481.4(AMT):c.283G>A (p.Val95Met)	SNV Germline	Chr3:49421548	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_183396486	3 SubmittersRCV001239740
NM_000170.3(GLDC):c.1678A>G (p.Met560Val)	SNV Germline	Chr9:6588430	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818312039	1 SubmittersRCV001246746
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)	SNV Germline	Chr9:6610195	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_139931025	3 SubmittersRCV001239243 RCV001539015
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg)	SNV Germline	Chr9:6645376	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_190430477	3 SubmittersRCV001248131 RCV001546727 RCV002570369
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)	SNV Germline	Chr3:49417859	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1368099067	4 SubmittersRCV001257431 RCV003886497
NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter)	SNV Unknown	Chr9:6536102	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1817121202	1 SubmittersRCV001263747
NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter)	SNV Unknown	Chr9:6536173	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_759933539	1 SubmittersRCV001263748
NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter)	SNV Unknown	Chr9:6536177	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1817123754	1 SubmittersRCV001263749
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)	SNV Germline	Chr9:6540087	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_765893483	2 SubmittersRCV001263750
NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter)	SNV Unknown	Chr9:6550855	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1817497939	1 SubmittersRCV001263837
NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter)	SNV Unknown	Chr9:6556258	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_149694787	1 SubmittersRCV001263838
NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter)	SNV Unknown	Chr9:6558597	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1563836857	1 SubmittersRCV001263839
NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter)	SNV Unknown	Chr9:6587217	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818289122	1 SubmittersRCV001263840
NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter)	SNV Unknown	Chr9:6587223	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818289261	1 SubmittersRCV001263841
NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter)	SNV Unknown	Chr9:6589265	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1038321056	1 SubmittersRCV001263842
NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter)	SNV Unknown	Chr9:6592889	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818404451	1 SubmittersRCV001263843
NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter)	SNV Unknown	Chr9:6592913	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818405533	1 SubmittersRCV001264010
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)	SNV Germline	Chr9:6592964	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1818407147	2 SubmittersRCV001264011
NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter)	SNV Unknown	Chr9:6604607	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_555359738	1 SubmittersRCV001264012
NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter)	SNV Unknown	Chr9:6604634	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818692381	1 SubmittersRCV001264013
NM_000170.3(GLDC):c.900C>A (p.Cys300Ter)	SNV Unknown	Chr9:6604746	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_143256976	1 SubmittersRCV001264014
NM_000170.3(GLDC):c.896T>A (p.Leu299Ter)	SNV Unknown	Chr9:6604750	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818695432	1 SubmittersRCV001264015
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter)	SNV Germline	Chr9:6605139	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1818703974	2 SubmittersRCV001264016
NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter)	SNV Unknown	Chr9:6610194	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_776895767	1 SubmittersRCV001264017
NM_000170.3(GLDC):c.622C>T (p.Gln208Ter)	SNV Unknown	Chr9:6610205	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1163351205	1 SubmittersRCV001264342
NM_000170.3(GLDC):c.552T>A (p.Cys184Ter)	SNV Unknown	Chr9:6610275	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_759699162	1 SubmittersRCV001264343
NM_000170.3(GLDC):c.466G>T (p.Gly156Ter)	SNV Unknown	Chr9:6620188	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1819058509	1 SubmittersRCV001264344
NM_000170.3(GLDC):c.433C>T (p.Gln145Ter)	SNV Unknown	Chr9:6620221	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1819059889	1 SubmittersRCV001264345
NM_000170.3(GLDC):c.302T>A (p.Leu101Ter)	SNV Unknown	Chr9:6644646	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1819702000	1 SubmittersRCV001264346
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)	SNV Germline	Chr3:49419051	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_2049051428	2 SubmittersRCV001265541
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr)	SNV Germline	Chr3:49417694	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_768293167	1 SubmittersRCV001305807
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp)	SNV Germline	Chr9:6605196	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818705322	1 SubmittersRCV001325842
NM_000170.3(GLDC):c.848C>G (p.Ala283Gly)	SNV Germline	Chr9:6605144	Likely pathogenic	Non-ketotic hyperglycinemia	No Assertion Criteria Provided		rs_2129898042	1 SubmittersRCV001638060
NM_000481.4(AMT):c.696G>A (p.Glu232=)	SNV Unknown	Chr3:49419260	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1352631535	1 SubmittersRCV001329302
NM_000481.4(AMT):c.665G>T (p.Arg222Leu)	SNV Germline	Chr3:49419291	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_562695274	1 SubmittersRCV001329301
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)	SNV Germline	Chr9:6602186	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_373482451	2 SubmittersRCV001331040
NM_000481.4(AMT):c.2T>C (p.Met1Thr)	SNV Germline	Chr3:49422449	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1266259634	1 SubmittersRCV001972587
NM_000170.3(GLDC):c.1261+2T>A	SNV Germline	Chr9:6595012	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818463608	1 SubmittersRCV003511751
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)	SNV Germline	Chr9:6565428	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia Retinitis pigmentosa	Criteria Provided Multiple Submitters No Conflicts		rs_758575745	2 SubmittersRCV001360323 RCV004545214
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)	SNV Germline	Chr9:6536224	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_367987650	2 SubmittersRCV001377475
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala)	SNV Germline	Chr9:6554681	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129719653	1 SubmittersRCV001379152
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile)	SNV Germline	Chr9:6587144	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818287644	1 SubmittersRCV001377093
NM_000481.4(AMT):c.1033+1G>C	SNV Germline	Chr3:49417817	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_2107928969	2 SubmittersRCV001381218
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)	SNV Germline	Chr3:49421514	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1249645541	2 SubmittersRCV001383889
NM_000481.4(AMT):c.259-2A>C	SNV Germline	Chr3:49421574	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_748522054	1 SubmittersRCV001381284
NM_000481.4(AMT):c.178C>T (p.Gln60Ter)	SNV Germline	Chr3:49422184	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2107937536	1 SubmittersRCV001382319
NM_000481.4(AMT):c.2T>A (p.Met1Lys)	SNV Germline	Chr3:49422449	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1266259634	1 SubmittersRCV001383790
NM_000170.3(GLDC):c.2596G>C (p.Asp866His)	SNV Germline	Chr9:6540120	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129663304	1 SubmittersRCV001387004
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter)	SNV Germline	Chr9:6550902	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1447727878	1 SubmittersRCV001386717
NM_000170.3(GLDC):c.1789G>T (p.Glu597Ter)	SNV Germline	Chr9:6587202	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129831711	1 SubmittersRCV001389070
NM_000170.3(GLDC):c.1718G>A (p.Trp573Ter)	SNV Germline	Chr9:6587273	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_959935793	1 SubmittersRCV001389339
NM_000170.3(GLDC):c.872G>A (p.Cys291Tyr)	SNV Germline	Chr9:6604774	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_777632051	1 SubmittersRCV001389829
NM_000170.3(GLDC):c.861+2T>A	SNV Germline	Chr9:6605129	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129897960	1 SubmittersRCV001383294
NM_000170.3(GLDC):c.209C>G (p.Pro70Arg)	SNV Germline	Chr9:6645291	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_776730073	1 SubmittersRCV001382232
NM_000170.3(GLDC):c.2T>A (p.Met1Lys)	SNV Germline	Chr9:6645498	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_121964978	1 SubmittersRCV001385368
NM_000170.3(GLDC):c.661G>A (p.Val221Ile)	SNV Germline	Chr9:6606644	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_144043066	4 SubmittersRCV001409953 RCV002243109 RCV001773743 RCV002554002
NM_000170.3(GLDC):c.549G>A (p.Val183=)	SNV Germline	Chr9:6610278	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_371771891	2 SubmittersRCV001411324 RCV001773746
NM_000170.3(GLDC):c.2569+8T>G	SNV Germline	Chr9:6550795	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_894742250	2 SubmittersRCV001488908
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu)	SNV Germline	Chr9:6587232	Conflicting classifications of pathogenicity	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_1296797567	2 SubmittersRCV001576079 RCV002568487
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)	SNV Germline	Chr3:49417962	Pathogenic/Likely pathogenic	Condition: not provided Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_766422988	5 SubmittersRCV001702163 RCV001882778
NM_000170.3(GLDC):c.943G>A (p.Gly315Ser)	SNV Germline	Chr9:6604703	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1292183482	1 SubmittersRCV001783379
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter)	SNV Germline	Chr9:6556180	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_147951756	2 SubmittersRCV001783380
NM_000170.3(GLDC):c.2315+2T>G	SNV Germline	Chr9:6554667	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1554643738	2 SubmittersRCV001782198
NM_000481.4(AMT):c.230C>A (p.Ser77Ter)	SNV Germline	Chr3:49422132	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_386833680	1 SubmittersRCV001844504
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly)	SNV Germline	Chr9:6610222	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_386833583	1 SubmittersRCV002034263
NM_000170.3(GLDC):c.466G>C (p.Gly156Arg)	SNV Germline	Chr9:6620188	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1819058509	1 SubmittersRCV001923338
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp)	SNV Germline	Chr9:6556157	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1817625926	1 SubmittersRCV002015099
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu)	SNV Germline	Chr9:6587147	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129831443	1 SubmittersRCV001989609
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro)	SNV Germline	Chr9:6606598	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_772832052	1 SubmittersRCV002015130
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln)	SNV Germline	Chr9:6534742	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1452327155	1 SubmittersRCV002013532
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val)	SNV Germline	Chr9:6536147	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1817122724	1 SubmittersRCV001959283
NM_000170.3(GLDC):c.1903C>T (p.Gln635Ter)	SNV Germline	Chr9:6565377	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129758198	1 SubmittersRCV001934250
NM_000170.3(GLDC):c.714-2A>G	SNV Germline	Chr9:6605280	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1170385434	1 SubmittersRCV001984394
NM_000170.3(GLDC):c.77C>A (p.Ser26Ter)	SNV Germline	Chr9:6645423	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2130032664	1 SubmittersRCV001919165
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr)	SNV Germline	Chr9:6602137	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1300550278	1 SubmittersRCV001993654
NM_000481.4(AMT):c.887G>T (p.Arg296Leu)	SNV Germline	Chr3:49417964	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_386833690	1 SubmittersRCV001968995
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter)	SNV Germline	Chr3:49419029	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2107931458	1 SubmittersRCV002037709
NM_000170.3(GLDC):c.255+3A>T	SNV Germline	Chr9:6645242	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1417674040	1 SubmittersRCV001999070
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser)	SNV Germline	Chr9:6620205	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_386833578	1 SubmittersRCV001938480
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu)	SNV Germline	Chr9:6620187	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129948795	1 SubmittersRCV001961771
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly)	SNV Germline	Chr9:6533118	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1288008254	1 SubmittersRCV002029780
NM_000170.3(GLDC):c.798C>G (p.Tyr266Ter)	SNV Germline	Chr9:6605194	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129898271	1 SubmittersRCV001880795
NM_000170.3(GLDC):c.2691G>A (p.Trp897Ter)	SNV Germline	Chr9:6536211	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129649998	1 SubmittersRCV001970112
NM_000170.3(GLDC):c.322G>T (p.Glu108Ter)	SNV Germline	Chr9:6644626	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2130029228	1 SubmittersRCV001992724
NM_000170.3(GLDC):c.2720C>T (p.Pro907Leu)	SNV Germline	Chr9:6536182	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129649871	1 SubmittersRCV001953700
NM_000170.3(GLDC):c.1896C>G (p.Tyr632Ter)	SNV Germline	Chr9:6565384	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1272244088	1 SubmittersRCV001953702
NM_000170.3(GLDC):c.1898T>G (p.Leu633Ter)	SNV Germline	Chr9:6565382	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129758221	1 SubmittersRCV001949673
NM_000481.4(AMT):c.293T>G (p.Met98Arg)	SNV Germline	Chr3:49421538	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2107935989	1 SubmittersRCV002001336
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr)	SNV Germline	Chr9:6587148	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129831448	1 SubmittersRCV002025734
NM_000170.3(GLDC):c.2288G>A (p.Gly763Asp)	SNV Germline	Chr9:6554696	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1374110692	1 SubmittersRCV002007219
NM_000481.4(AMT):c.847C>T (p.Pro283Ser)	SNV Germline	Chr3:49419001	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_771214835	1 SubmittersRCV001915076
NM_000170.3(GLDC):c.2445G>A (p.Trp815Ter)	SNV Germline	Chr9:6553380	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129714616	1 SubmittersRCV001994664
NM_000170.3(GLDC):c.714-1G>A	SNV Germline	Chr9:6605279	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129898670	1 SubmittersRCV002022056
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys)	SNV Germline	Chr9:6554769	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_148775220	1 SubmittersRCV001983671
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)	SNV Germline	Chr9:6554725	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_2129719894	2 SubmittersRCV001922171
NM_000170.3(GLDC):c.1611C>G (p.Tyr537Ter)	SNV Germline	Chr9:6588672	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1818317328	1 SubmittersRCV001920147
NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln)	SNV Germline	Chr9:6602146	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129885269	1 SubmittersRCV001994485
NM_000170.3(GLDC):c.2019T>A (p.Tyr673Ter)	SNV Germline	Chr9:6558592	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_774506115	1 SubmittersRCV001994499
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp)	SNV Germline	Chr9:6587145	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications		rs_2129831435	2 SubmittersRCV001994500 RCV003323959
NM_000170.3(GLDC):c.1411T>C (p.Ser471Pro)	SNV Germline	Chr9:6592214	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129850481	1 SubmittersRCV002007624
NM_000170.3(GLDC):c.1256C>G (p.Ser419Ter)	SNV Germline	Chr9:6595019	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1227030484	1 SubmittersRCV001999705
NM_000170.3(GLDC):c.1108C>A (p.Gln370Lys)	SNV Germline	Chr9:6602156	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_570097430	1 SubmittersRCV002035503
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp)	SNV Germline	Chr9:6534743	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1172061571	1 SubmittersRCV002034925
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)	SNV Germline	Chr9:6550890	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1209943477	2 SubmittersRCV001941898
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)	SNV Germline	Chr9:6620229	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_2129948971	2 SubmittersRCV001939557
NM_000170.3(GLDC):c.1142T>C (p.Ile381Thr)	SNV Germline	Chr9:6602122	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_775502762	1 SubmittersRCV001942051
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro)	SNV Germline	Chr9:6645264	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2130031802	1 SubmittersRCV002000732
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser)	SNV Germline	Chr9:6536225	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129650066	1 SubmittersRCV001986682
NM_000481.4(AMT):c.248A>G (p.His83Arg)	SNV Germline	Chr3:49422114	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1467607949	1 SubmittersRCV002002533
NM_000170.3(GLDC):c.1852G>T (p.Gly618Ter)	SNV Germline	Chr9:6565428	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_758575745	1 SubmittersRCV001941627
NM_000170.3(GLDC):c.1083T>G (p.Tyr361Ter)	SNV Germline	Chr9:6602181	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129885505	1 SubmittersRCV001946893
NM_000170.3(GLDC):c.478C>T (p.Gln160Ter)	SNV Germline	Chr9:6610349	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1264725941	1 SubmittersRCV001970223
NM_000170.3(GLDC):c.1740C>G (p.His580Gln)	SNV Germline	Chr9:6587251	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1587946346	1 SubmittersRCV002001026
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln)	SNV Germline	Chr9:6588676	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_747853668	1 SubmittersRCV001956185
NM_000170.3(GLDC):c.2279A>T (p.His760Leu)	SNV Germline	Chr9:6554705	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1817583687	1 SubmittersRCV002000776
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln)	SNV Germline	Chr9:6604735	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1207147043	1 SubmittersRCV002026185
NM_000481.4(AMT):c.664C>A (p.Arg222Ser)	SNV Germline	Chr3:49419292	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_781466698	1 SubmittersRCV001961638
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala)	SNV Germline	Chr9:6554672	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_760077981	1 SubmittersRCV002005983
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)	SNV Germline	Chr9:6610322	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications		rs_1356375715	3 SubmittersRCV001959050 RCV003226512
NM_000170.3(GLDC):c.2665+1G>A	SNV Germline	Chr9:6540050	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_149070244	1 SubmittersRCV001975089
NM_000170.3(GLDC):c.1927-1G>A	SNV Germline	Chr9:6558685	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129735367	1 SubmittersRCV001980573
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr)	SNV Germline	Chr9:6556158	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_2129725849	1 SubmittersRCV001977308
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)	SNV Germline	Chr3:49422405	Pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 1	Criteria Provided Multiple Submitters No Conflicts		rs_2049124862	2 SubmittersRCV002011866 RCV004571689
NM_000170.3(GLDC):c.2053-2A>C	SNV Germline	Chr9:6556304	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_1323060528	1 SubmittersRCV002001594
NM_000170.3(GLDC):c.1402-1G>A	SNV Germline	Chr9:6592224	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_386833525	1 SubmittersRCV001981249
NM_000170.3(GLDC):c.636-6C>T	SNV Germline	Chr9:6606675	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2129903875	2 SubmittersRCV002131285 RCV004046578
NM_000170.3(GLDC):c.166C>T (p.Leu56Phe)	SNV Germline	Chr9:6645334	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374342418	3 SubmittersRCV002200445 RCV002260716 RCV004045593
NM_000481.4(AMT):c.463C>T (p.Leu155Phe)	SNV Germline	Chr3:49420219	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201233398	2 SubmittersRCV002126067 RCV003161613
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe)	SNV Germline	Chr9:6553384	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter		rs_763075374	1 SubmittersRCV002249058
NM_000170.3(GLDC):c.635+1G>A	SNV Germline	Chr9:6610191	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts		rs_1368757896	2 SubmittersRCV002249059
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)	SNV Germline	Chr9:6620209	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia	Criteria Provided Conflicting Classifications		rs_183024300	2 SubmittersRCV002273351
NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)	SNV Unknown	Chr9:6588699	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002306480
NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)	SNV Unknown	Chr9:6536159	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002309861
NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)	SNV Unknown	Chr9:6565407	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002310004
NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)	SNV Unknown	Chr9:6610300	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002308013
NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)	SNV Unknown	Chr9:6610334	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002308419
NM_000170.3(GLDC):c.2885G>C (p.Arg962Pro)	SNV Germline	Chr9:6534742	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003058211
NM_000170.3(GLDC):c.2838+5G>T	SNV Germline	Chr9:6536059	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003062195
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)	SNV Germline	Chr9:6550856	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia not specified	Criteria Provided Conflicting Classifications			3 SubmittersRCV003037311 RCV004526957
NM_000170.3(GLDC):c.2236G>C (p.Asp746His)	SNV Germline	Chr9:6554748	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003062196
NM_000170.3(GLDC):c.1851-1G>A	SNV Germline	Chr9:6565430	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003058212
NM_000170.3(GLDC):c.1611C>A (p.Tyr537Ter)	SNV Germline	Chr9:6588672	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003058213
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)	SNV Germline	Chr9:6602116	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003062197
NM_000170.3(GLDC):c.1097A>G (p.Gln366Arg)	SNV Germline	Chr9:6602167	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003062198
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)	SNV Germline	Chr9:6605181	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003073158
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)	SNV Germline	Chr9:6602119	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003088245
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)	SNV Germline	Chr9:6587144	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003085003
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)	SNV Germline	Chr3:49417860	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003087006
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)	SNV Germline	Chr9:6554748	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002624851
NM_000481.4(AMT):c.697-1G>A	SNV Germline	Chr3:49419152	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002624512
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)	SNV Germline	Chr3:49417651	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002664312
NM_000170.3(GLDC):c.452T>G (p.Leu151Ter)	SNV Germline	Chr9:6620202	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002578753
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)	SNV Germline	Chr9:6556158	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002714950
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)	SNV Germline	Chr9:6588631	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002690448
NM_000170.3(GLDC):c.2665+1G>T	SNV Germline	Chr9:6540050	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002751326
NM_000170.3(GLDC):c.2203-2A>T	SNV Germline	Chr9:6554783	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002791451
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)	SNV Germline	Chr9:6556209	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002791168
NM_000481.4(AMT):c.91-2A>G	SNV Germline	Chr3:49422273	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002814674
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)	SNV Germline	Chr3:49417965	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002829439
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)	SNV Germline	Chr3:49417920	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002830118
NM_000170.3(GLDC):c.1666-1G>A	SNV Germline	Chr9:6588443	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002835370
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)	SNV Germline	Chr9:6592213	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002866546
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)	SNV Germline	Chr9:6604591	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002889371
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)	SNV Germline	Chr3:49421550	Conflicting classifications of pathogenicity	Non-ketotic hyperglycinemia AMT-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002886188 RCV003898569
NM_000170.3(GLDC):c.635+1G>T	SNV Germline	Chr9:6610191	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002867703
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)	SNV Germline	Chr3:49417665	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV002972569
NM_000170.3(GLDC):c.850C>A (p.His284Asn)	SNV Germline	Chr9:6605142	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003009089
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)	SNV Germline	Chr9:6554697	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003011655
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)	SNV Germline	Chr9:6620204	Pathogenic/Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003008476
NM_000481.4(AMT):c.1033+1G>A	SNV Germline	Chr3:49417817	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003023656
NM_000170.3(GLDC):c.1058+2T>C	SNV Germline	Chr9:6604586	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003047565
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)	SNV Germline	Chr9:6604606	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003040251
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)	SNV Germline	Chr9:6602146	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003032967
NM_000481.4(AMT):c.90+1G>T	SNV Germline	Chr3:49422360	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003063840
NM_000170.3(GLDC):c.256-2A>G	SNV Germline	Chr9:6644694	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003123373
NM_000170.3(GLDC):c.391A>T (p.Arg131Ter)	SNV Germline	Chr9:6620263	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003138953
NM_000481.4(AMT):c.339+2T>C	SNV Germline	Chr3:49421490	Likely pathogenic	Non-ketotic hyperglycinemia Glycine encephalopathy 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003147203 RCV003492842
NM_000170.3(GLDC):c.1155+1G>T	SNV Germline	Chr9:6602108	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003143334
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)	SNV Unknown	Chr9:6556169	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003333657
NM_000170.3(GLDC):c.2690G>A (p.Trp897Ter)	SNV Germline	Chr9:6536212	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003335898
NM_000481.4(AMT):c.877+5G>A	SNV Germline	Chr3:49418966	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513590
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)	SNV Germline	Chr3:49419003	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513591
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)	SNV Germline	Chr3:49419391	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513592
NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro)	SNV Germline	Chr9:6540062	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513604
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)	SNV Germline	Chr9:6554708	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513605
NM_000170.3(GLDC):c.2183G>A (p.Gly728Glu)	SNV Germline	Chr9:6556172	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513606
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)	SNV Germline	Chr9:6587169	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513607
NM_000170.3(GLDC):c.1401+5G>T	SNV Germline	Chr9:6592846	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513609
NM_000170.3(GLDC):c.1096C>T (p.Gln366Ter)	SNV Germline	Chr9:6602168	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513610
NM_000170.3(GLDC):c.861+2T>C	SNV Germline	Chr9:6605129	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513611
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)	SNV Germline	Chr9:6610233	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513612
NM_000170.3(GLDC):c.490T>C (p.Tyr164His)	SNV Germline	Chr9:6610337	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513615
NM_000170.3(GLDC):c.470+1G>C	SNV Germline	Chr9:6620183	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003513616
NM_000170.3(GLDC):c.682C>T (p.Gln228Ter)	SNV Germline	Chr9:6606623	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003511706
NM_000170.3(GLDC):c.90G>A (p.Trp30Ter)	SNV Germline	Chr9:6645410	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003511945
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)	SNV Germline	Chr3:49417650	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003512607
NM_000170.3(GLDC):c.2782C>T (p.Gln928Ter)	SNV Germline	Chr9:6536120	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003624554
NM_000170.3(GLDC):c.2570-2A>G	SNV Germline	Chr9:6540148	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003624630
NM_000170.3(GLDC):c.1261+1G>C	SNV Germline	Chr9:6595013	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003624687
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)	SNV Germline	Chr9:6595081	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003624893
NM_000170.3(GLDC):c.2053-2A>G	SNV Germline	Chr9:6556304	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625281
NM_000481.4(AMT):c.258+1G>A	SNV Germline	Chr3:49422103	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625368
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)	SNV Germline	Chr3:49419287	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625464
NM_000170.3(GLDC):c.636-2A>G	SNV Germline	Chr9:6606671	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625348
NM_000170.3(GLDC):c.636-1G>T	SNV Germline	Chr9:6606670	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625480
NM_000170.3(GLDC):c.238C>T (p.Gln80Ter)	SNV Germline	Chr9:6645262	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625288
NM_000170.3(GLDC):c.2203-1G>A	SNV Germline	Chr9:6554782	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625337
NM_000481.4(AMT):c.697-2A>C	SNV Germline	Chr3:49419153	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625468
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)	SNV Germline	Chr3:49419022	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625667
NM_000170.3(GLDC):c.471-1G>T	SNV Germline	Chr9:6610357	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003625936
NM_000170.3(GLDC):c.395C>A (p.Ser132Ter)	SNV Germline	Chr9:6620259	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003623940
NM_000170.3(GLDC):c.1580+1G>C	SNV Germline	Chr9:6589194	Pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003624006
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)	SNV Germline	Chr3:49422145	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003624969
NM_000481.4(AMT):c.248A>C (p.His83Pro)	SNV Germline	Chr3:49422114	Likely pathogenic	Non-ketotic hyperglycinemia	Criteria Provided Single Submitter			1 SubmittersRCV003856526

NM_000481.4(AMT):c.139G>A (p.Gly47Arg)

SNV
Germline

Chr3:49422223

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Inborn genetic diseases
Glycine encephalopathy 1
Glycine encephalopathy 2

Criteria Provided
Conflicting Classifications

CA256146

rs_121964982

4 SubmittersRCV000012755 RCV000622444 RCV004566725 RCV003230354

NM_000481.4(AMT):c.125A>G (p.His42Arg)

SNV
Germline

Chr3:49422237

Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 2
Glycine encephalopathy 1

Criteria Provided
Single Submitter

CA341155

rs_121964983

3 SubmittersRCV000012756 RCV003230355 RCV004566726

NM_000481.4(AMT):c.826G>C (p.Asp276His)

SNV
Germline

Chr3:49419022

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA256150

rs_121964984

4 SubmittersRCV000012758 RCV003230356

NM_000481.4(AMT):c.959G>A (p.Arg320His)

SNV
Germline

Chr3:49417892

Pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 2
Glycine encephalopathy 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341159

rs_121964985

15 SubmittersRCV000012759 RCV003230357 RCV004566727 RCV001090581

NM_000481.4(AMT):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr3:49419382

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 2
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256155

rs_121964986

4 SubmittersRCV000012760 RCV003230358 RCV004566728

NM_000481.4(AMT):c.878-1G>A

SNV
Germline

Chr3:49417974

Pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1
Glycine encephalopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341164

rs_181134220

7 SubmittersRCV000012761 RCV004566729 RCV003230359

NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)

SNV
Germline

Chr9:6588417

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA341165

rs_121964974

4 SubmittersRCV000012762 RCV004566730

NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)

SNV
Germline

Chr9:6589230

Pathogenic

Non-ketotic hyperglycinemia
Generalized epilepsy
Global developmental delay
Obesity
Glycine encephalopathy 1
GLDC-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341167

rs_121964976

15 SubmittersRCV000012765 RCV000449527 RCV004566732 RCV003398490 RCV001582476

NM_000170.3(GLDC):c.2281G>C (p.Gly761Arg)

SNV
Germline

Chr9:6554703

Pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

No Assertion Criteria Provided

CA256161

rs_386833549

2 SubmittersRCV000012766 RCV004566733

NM_000170.3(GLDC):c.2405C>T (p.Ala802Val)

SNV
Germline

Chr9:6553420

Pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256164

rs_121964977

4 SubmittersRCV000012767 RCV004566734

NM_000170.3(GLDC):c.2T>C (p.Met1Thr)

SNV
Germline

Chr9:6645498

Pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Single Submitter

CA256167

rs_121964978

3 SubmittersRCV000012768 RCV004566735

NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)

SNV
Germline

Chr9:6595109

Pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256170

rs_121964979

6 SubmittersRCV000012769 RCV000482511 RCV004566736

NM_000170.3(GLDC):c.2216G>A (p.Arg739His)

SNV
Germline

Chr9:6554768

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256173

rs_121964980

8 SubmittersRCV000012770 RCV001659692 RCV004566737

NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)

SNV
Germline

Chr9:6604637

Pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA263279

rs_386833517

8 SubmittersRCV000049445 RCV000404397 RCV004566898

NM_000170.3(GLDC):c.1111C>G (p.His371Asp)

SNV
Not provided

Chr9:6602153

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263283

rs_386833519

1 SubmittersRCV000049447

NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)

SNV
Germline

Chr9:6592982

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263287

rs_386833521

4 SubmittersRCV000049449

NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn)

SNV
Not provided

Chr9:6592933

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263291

rs_386833523

1 SubmittersRCV000049451

NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)

SNV
Germline

Chr9:6592870

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
GLDC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA263294

rs_386833524

6 SubmittersRCV000049452 RCV003407429

NM_000170.3(GLDC):c.1402-1G>C

SNV
Not provided

Chr9:6592224

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263297

rs_386833525

1 SubmittersRCV000049453

NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr)

SNV
Not provided

Chr9:6588686

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263302

rs_386833528

1 SubmittersRCV000049456

NM_000170.3(GLDC):c.1654A>G (p.Met552Val)

SNV
Germline

Chr9:6588629

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA263305

rs_386833529

4 SubmittersRCV000049457

NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)

SNV
Germline

Chr9:6645324

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA263308

rs_386833530

3 SubmittersRCV000049458 RCV004018964

NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)

SNV
Germline

Chr9:6587205

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263311

rs_386833531

5 SubmittersRCV000049459

NM_000170.3(GLDC):c.1926+1G>A

SNV
Not provided

Chr9:6565353

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263318

rs_386833534

1 SubmittersRCV000049462

NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe)

SNV
Not provided

Chr9:6558680

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263319

rs_386833535

1 SubmittersRCV000049463

NM_000170.3(GLDC):c.1952A>G (p.His651Arg)

SNV
Germline

Chr9:6558659

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263322

rs_386833536

3 SubmittersRCV000049464 RCV000430656

NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter)

SNV
Not provided

Chr9:6558615

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263325

rs_386833537

1 SubmittersRCV000049465

NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro)

SNV
Not provided

Chr9:6556275

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263328

rs_386833538

1 SubmittersRCV000049466

NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala)

SNV
Not provided

Chr9:6556257

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263331

rs_386833539

1 SubmittersRCV000049467

NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile)

SNV
Not provided

Chr9:6556250

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263334

rs_386833540

1 SubmittersRCV000049468

NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg)

SNV
Not provided

Chr9:6556173

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263338

rs_386833542

1 SubmittersRCV000049470

NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)

SNV
Germline

Chr9:6556159

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA263342

rs_386833544

3 SubmittersRCV000049472

NM_000170.3(GLDC):c.2203-2A>G

SNV
Germline

Chr9:6554783

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263345

rs_386833545

5 SubmittersRCV000049473

NM_000170.3(GLDC):c.2258A>C (p.His753Pro)

SNV
Not provided

Chr9:6554726

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263347

rs_386833547

1 SubmittersRCV000049475

NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg)

SNV
Unknown

Chr9:6554700

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA344726

rs_386833550

2 SubmittersRCV000049478

NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)

SNV
Germline

Chr9:6554691

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA263353

rs_386833551

3 SubmittersRCV000049479 RCV000419990

NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu)

SNV
Not provided

Chr9:6554678

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263356

rs_386833552

1 SubmittersRCV000049480

NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)

SNV
Germline

Chr9:6554673

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263359

rs_386833553

5 SubmittersRCV000049481

NM_000170.3(GLDC):c.2316-1G>A

SNV
Germline

Chr9:6553510

Pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
GLDC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA263362

rs_386833554

9 SubmittersRCV000049482 RCV000734579 RCV003415814

NM_000170.3(GLDC):c.2324A>G (p.His775Arg)

SNV
Germline

Chr9:6553501

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

CA263363

rs_386833555

3 SubmittersRCV000049483 RCV003155059

NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)

SNV
Germline

Chr9:6553457

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA263366

rs_386833556

5 SubmittersRCV000049484

NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)

SNV
Germline

Chr9:6553411

Pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
GLDC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA263369

rs_386833557

4 SubmittersRCV000049485 RCV002243691 RCV003390751

NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)

SNV
Germline

Chr9:6645255

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA263373

rs_386833559

2 SubmittersRCV000049487

NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)

SNV
Germline

Chr9:6550883

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263376

rs_386833560

4 SubmittersRCV000049488

NM_000170.3(GLDC):c.255+1G>A

SNV
Not provided

Chr9:6645244

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263385

rs_386833563

1 SubmittersRCV000049491

NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter)

SNV
Not provided

Chr9:6540142

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263386

rs_386833564

1 SubmittersRCV000049492

NM_000170.3(GLDC):c.2607C>A (p.Pro869=)

SNV
Germline

Chr9:6540109

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

CA263389

rs_386833565

6 SubmittersRCV000049493 RCV004566900

NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)

SNV
Germline

Chr9:6540077

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263392

rs_386833566

3 SubmittersRCV000049494

NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)

SNV
Germline

Chr9:6540060

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA263395

rs_386833567

2 SubmittersRCV000049495

NM_000170.3(GLDC):c.2838+5G>A

SNV
Germline

Chr9:6536059

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

CA263398

rs_386833568

4 SubmittersRCV000049496 RCV003230385

NM_000170.3(GLDC):c.2839-1G>C

SNV
Not provided

Chr9:6534789

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263399

rs_386833569

1 SubmittersRCV000049497

NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu)

SNV
Not provided

Chr9:6534781

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263400

rs_386833570

1 SubmittersRCV000049498

NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly)

SNV
Not provided

Chr9:6534731

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263406

rs_386833573

1 SubmittersRCV000049500

NM_000170.3(GLDC):c.2919+1G>A

SNV
Germline

Chr9:6534707

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263410

rs_386833575

4 SubmittersRCV000049502

NM_000170.3(GLDC):c.395C>G (p.Ser132Trp)

SNV
Not provided

Chr9:6620259

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263411

rs_386833576

1 SubmittersRCV000049503

NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe)

SNV
Not provided

Chr9:6620241

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263414

rs_386833577

1 SubmittersRCV000049504

NM_000170.3(GLDC):c.449A>C (p.Asn150Thr)

SNV
Not provided

Chr9:6620205

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263417

rs_386833578

1 SubmittersRCV000049505

NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)

SNV
Germline

Chr9:6620197

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA263420

rs_386833579

2 SubmittersRCV000049506

NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)

SNV
Germline

Chr9:6610345

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
GLDC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA263423

rs_386833580

6 SubmittersRCV000049507 RCV000999135 RCV003974936

NM_000170.3(GLDC):c.513G>C (p.Gly171=)

SNV
Not provided

Chr9:6610314

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263426

rs_386833581

1 SubmittersRCV000049508

NM_000170.3(GLDC):c.560C>A (p.Thr187Lys)

SNV
Not provided

Chr9:6610267

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263429

rs_386833582

1 SubmittersRCV000049509

NM_000170.3(GLDC):c.605C>T (p.Ala202Val)

SNV
Not provided

Chr9:6610222

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263432

rs_386833583

1 SubmittersRCV000049510

NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)

SNV
Germline

Chr9:6606599

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263435

rs_386833585

4 SubmittersRCV000049511

NM_000170.3(GLDC):c.806C>T (p.Thr269Met)

SNV
Germline

Chr9:6605186

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263439

rs_386833587

12 SubmittersRCV000049513 RCV001528427

NM_000170.3(GLDC):c.808G>T (p.Glu270Ter)

SNV
Not provided

Chr9:6605184

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263442

rs_386833588

1 SubmittersRCV000049514

NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)

SNV
Germline

Chr9:6605145

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263445

rs_386833589

3 SubmittersRCV000049515

NM_000170.3(GLDC):c.861+1G>T

SNV
Not provided

Chr9:6605130

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263447

rs_386833590

1 SubmittersRCV000049516

NM_000170.3(GLDC):c.887T>G (p.Leu296Arg)

SNV
Not provided

Chr9:6604759

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263448

rs_386833591

1 SubmittersRCV000049517

NM_032316.3(NICN1):c.*2328C>T

SNV
Germline

Chr3:49422505

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Neurodevelopmental delay
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

CA263561

rs_386833677

5 SubmittersRCV000049637 RCV002273949 RCV004566901

NM_000481.4(AMT):c.139G>T (p.Gly47Trp)

SNV
Not provided

Chr3:49422223

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263562

rs_121964982

1 SubmittersRCV000049638

NM_000481.4(AMT):c.217C>T (p.Arg73Cys)

SNV
Germline

Chr3:49422145

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
See cases
Glycine encephalopathy 1
Glycine encephalopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA263566

rs_386833679

11 SubmittersRCV000049640 RCV001090584 RCV002251953 RCV004566903 RCV004566902

NM_000481.4(AMT):c.230C>T (p.Ser77Leu)

SNV
Germline

Chr3:49422132

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

CA263569

rs_386833680

7 SubmittersRCV000049641 RCV002274890 RCV004566904

NM_000481.4(AMT):c.259-1G>C

SNV
Not provided

Chr3:49421573

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263572

rs_386833681

1 SubmittersRCV000049642

NM_000481.4(AMT):c.434A>T (p.Asn145Ile)

SNV
Unknown

Chr3:49420248

Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Single Submitter

CA263573

rs_386833682

2 SubmittersRCV000049643 RCV004566905

NM_000481.4(AMT):c.471+2T>C

SNV
Germline

Chr3:49420209

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA263578

rs_386833684

7 SubmittersRCV000049645

NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)

SNV
Germline

Chr3:49419282

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA263583

rs_386833689

2 SubmittersRCV000049650

NM_000481.4(AMT):c.887G>A (p.Arg296His)

SNV
Germline

Chr3:49417964

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA263586

rs_386833690

8 SubmittersRCV000049651 RCV000436156

NM_004483.5(GCSH):c.425-1G>T

SNV
Not provided

Chr16:81082964

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

CA263872

rs_386833859

1 SubmittersRCV000049828

NM_000170.3(GLDC):c.1665+1G>A

SNV
Germline

Chr9:6588617

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_267602258

1 SubmittersRCV003513608

NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)

SNV
Germline

Chr8:1771553

Pathogenic/Likely pathogenic

Condition: not provided
Neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis 8
Inborn genetic diseases
Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA314014

rs_144495588

8 SubmittersRCV000187127 RCV000503130 RCV000665564 RCV002336495 RCV004525896

NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)

SNV
Germline

ChrX:100407263

Likely pathogenic

Condition: not provided
Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9

Criteria Provided
Single Submitter

CA316348

rs_796052815

2 SubmittersRCV000188368 RCV001199422

NM_000481.4(AMT):c.870G>A (p.Trp290Ter)

SNV
Germline

Chr3:49418978

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA275980

rs_797045082

1 SubmittersRCV000190566

NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)

SNV
Germline

Chr9:6587249

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA277515

rs_772871471

4 SubmittersRCV000198720

NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)

SNV
Germline

Chr9:6595046

Conflicting classifications of pathogenicity

not specified
Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4980799

rs_144090917

11 SubmittersRCV000243554 RCV000299139 RCV001706208

NM_000170.3(GLDC):c.2053-5C>G

SNV
Germline

Chr9:6556307

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

CA4980404

rs_140877566

9 SubmittersRCV000223973 RCV000552095 RCV001701793

NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)

SNV
Germline

Chr3:49417607

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA2398133

rs_141246107

5 SubmittersRCV000224719 RCV000238619 RCV001084238

NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)

SNV
Germline

Chr9:6558671

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Smith-Magenis Syndrome-like
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4980455

rs_201135624

9 SubmittersRCV000284142 RCV000491317 RCV001565401 RCV002518556 RCV003479081

NM_000481.4(AMT):c.354G>A (p.Leu118=)

SNV
Germline

Chr3:49420328

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA2398387

rs_145194293

7 SubmittersRCV000244017 RCV000638295 RCV001084069

NM_000170.3(GLDC):c.498T>C (p.Pro166=)

SNV
Germline

Chr9:6610329

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4981111

rs_150193069

10 SubmittersRCV000245433 RCV000711820 RCV001083509

NM_000170.3(GLDC):c.319A>G (p.Met107Val)

SNV
Germline

Chr9:6644629

Conflicting classifications of pathogenicity

not specified
Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4981208

rs_138454333

7 SubmittersRCV000253432 RCV000401836 RCV001610566

NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)

SNV
Germline

Chr16:81090603

Pathogenic/Likely pathogenic

Condition: not provided
Non-ketotic hyperglycinemia
Multiple mitochondrial dysfunctions syndrome 7
GCSH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8186794

rs_769222264

4 SubmittersRCV000254729 RCV001359426 RCV003236577 RCV003417868

NM_004483.5(GCSH):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:81096278

Pathogenic/Likely pathogenic

Condition: not provided
Non-ketotic hyperglycinemia
Multiple mitochondrial dysfunctions syndrome 7
GCSH-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10588627

rs_886039730

4 SubmittersRCV000255962 RCV001804993 RCV003236578 RCV003401220

NM_000170.3(GLDC):c.2665+1G>C

SNV
Germline

Chr9:6540050

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4980128

rs_149070244

6 SubmittersRCV000411816 RCV000353440

NM_000481.4(AMT):c.195C>T (p.His65=)

SNV
Germline

Chr3:49422167

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2398449

rs_145243292

3 SubmittersRCV000284432 RCV003430885

NM_000481.4(AMT):c.152C>T (p.Ala51Val)

SNV
Germline

Chr3:49422210

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2398463

rs_34812788

4 SubmittersRCV000398839 RCV000710536

NM_000481.4(AMT):c.84C>T (p.Cys28=)

SNV
Germline

Chr3:49422367

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2398492

rs_763223038

4 SubmittersRCV000287819 RCV003437097

NM_032316.3(NICN1):c.*2307G>C

SNV
Germline

Chr3:49422526

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA2398538

rs_544461335

4 SubmittersRCV000345162

NM_000481.4(AMT):c.961G>A (p.Val321Met)

SNV
Germline

Chr3:49417890

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA2398193

rs_149457059

3 SubmittersRCV000330007

NM_000481.4(AMT):c.153G>A (p.Ala51=)

SNV
Germline

Chr3:49422209

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA2398462

rs_768510463

3 SubmittersRCV000346232

NM_000481.4(AMT):c.858C>A (p.Gly286=)

SNV
Germline

Chr3:49418990

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
AMT-related disorder

Criteria Provided
Conflicting Classifications

CA2398223

rs_367726589

4 SubmittersRCV000316251 RCV003430884 RCV003910368

NM_000481.4(AMT):c.513C>T (p.Gly171=)

SNV
Germline

Chr3:49419747

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
AMT-related disorder

Criteria Provided
Conflicting Classifications

CA2398338

rs_555045517

3 SubmittersRCV000285636 RCV003972464

NM_000481.4(AMT):c.825T>A (p.Asn275Lys)

SNV
Germline

Chr3:49419023

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA2398230

rs_144241950

4 SubmittersRCV000373179

NM_000170.3(GLDC):c.150G>A (p.Ser50=)

SNV
Germline

Chr9:6645350

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4981285

rs_768354829

2 SubmittersRCV000335650

NM_000170.3(GLDC):c.2919C>T (p.Leu973=)

SNV
Germline

Chr9:6534708

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4980022

rs_113736090

5 SubmittersRCV000391824 RCV001577027

NM_000170.3(GLDC):c.2730G>A (p.Ser910=)

SNV
Germline

Chr9:6536172

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4980086

rs_144937031

7 SubmittersRCV000362547 RCV000711818 RCV001778954

NM_000170.3(GLDC):c.1626A>G (p.Glu542=)

SNV
Germline

Chr9:6588657

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4980608

rs_779537709

2 SubmittersRCV000344808

NM_000170.3(GLDC):c.1156-7C>G

SNV
Germline

Chr9:6595126

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
GLDC-related disorder

Criteria Provided
Conflicting Classifications

CA4980824

rs_150095531

11 SubmittersRCV000268617 RCV000859591 RCV003957872

NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)

SNV
Germline

Chr9:6645448

Conflicting classifications of pathogenicity

not specified
Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4981296

rs_535143891

9 SubmittersRCV000609377 RCV000359890 RCV001535403

NM_000170.3(GLDC):c.2683A>G (p.Met895Val)

SNV
Germline

Chr9:6536219

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
GLDC-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4980097

rs_141152043

8 SubmittersRCV000277386 RCV003897818 RCV001200494

NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)

SNV
Germline

Chr9:6556206

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4980372

rs_117460214

4 SubmittersRCV000324125 RCV003480621

NM_000170.3(GLDC):c.2988G>C (p.Gln996His)

SNV
Germline

Chr9:6533092

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
Inborn genetic diseases
GLDC-related disorder

Criteria Provided
Conflicting Classifications

CA4979981

rs_138640017

7 SubmittersRCV000391827 RCV001311339 RCV002524602 RCV003950304

NM_000170.3(GLDC):c.1483-15G>C

SNV
Germline

Chr9:6589307

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4980677

rs_371777070

2 SubmittersRCV000391608

NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)

SNV
Germline

Chr9:6610328

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4981110

rs_191905539

8 SubmittersRCV000412474 RCV000624546 RCV001556638

NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)

SNV
Germline

Chr9:6533142

Conflicting classifications of pathogenicity

Abnormal brain morphology
Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

CA4979992

rs_772574530

4 SubmittersRCV000454245 RCV000532564 RCV002307498

NM_000170.3(GLDC):c.2919+5G>T

SNV
Germline

Chr9:6534703

Pathogenic/Likely pathogenic

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA4980018

rs_768091555

2 SubmittersRCV000483730 RCV003512048

NM_000481.4(AMT):c.350C>T (p.Ser117Leu)

SNV
Germline

Chr3:49420332

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Glycine encephalopathy 2

Criteria Provided
Conflicting Classifications

CA2398389

rs_769468125

4 SubmittersRCV000495928 RCV003230522

NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter)

SNV
Germline

Chr9:6550828

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA372875885

rs_1554643354

1 SubmittersRCV000499785

NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)

SNV
Germline

ChrX:100407129

Likely pathogenic

Condition: not provided
Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9

Criteria Provided
Single Submitter

CA414002662

rs_1555985142

2 SubmittersRCV000523094 RCV001199428

NM_000481.4(AMT):c.685G>C (p.Asp229His)

SNV
Germline

Chr3:49419271

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA352790066

rs_1553638463

1 SubmittersRCV000533799

NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)

SNV
Germline

Chr9:6588665

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
GLDC-related disorder

Criteria Provided
Conflicting Classifications

CA4980610

rs_140516872

4 SubmittersRCV000544389 RCV001288616 RCV003925633

NM_000170.3(GLDC):c.1580+2T>G

SNV
Germline

Chr9:6589193

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA372893196

rs_1554646710

4 SubmittersRCV000560119

NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)

SNV
Germline

Chr9:6550845

Pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372876006

rs_1554643360

4 SubmittersRCV000537902 RCV003238766

NM_000170.3(GLDC):c.2487C>T (p.Ala829=)

SNV
Germline

Chr9:6550885

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4980196

rs_141806715

5 SubmittersRCV000549494 RCV001568807

NM_000170.3(GLDC):c.1926+5G>A

SNV
Germline

Chr9:6565349

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA658657857

rs_1554644678

2 SubmittersRCV000534696

NM_000170.3(GLDC):c.1453T>C (p.Leu485=)

SNV
Germline

Chr9:6592172

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4980705

rs_760562478

3 SubmittersRCV000530223 RCV001584264

NM_000170.3(GLDC):c.2964G>A (p.Arg988=)

SNV
Germline

Chr9:6533116

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4979987

rs_146045718

5 SubmittersRCV000711819 RCV001084230

NM_000170.3(GLDC):c.2955G>A (p.Thr985=)

SNV
Germline

Chr9:6533125

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
GLDC-related disorder

Criteria Provided
Conflicting Classifications

CA4979990

rs_142004524

5 SubmittersRCV000546170 RCV001564449 RCV003935442

NM_000170.3(GLDC):c.2113G>A (p.Val705Met)

SNV
Germline

Chr9:6556242

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

CA4980386

rs_147275962

9 SubmittersRCV000711816 RCV001086012 RCV001701032

NM_000170.3(GLDC):c.619C>G (p.Leu207Val)

SNV
Germline

Chr9:6610208

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4981079

rs_142181803

3 SubmittersRCV000528350 RCV000992085

NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)

SNV
Germline

Chr9:6540102

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA372883626

rs_1430968530

4 SubmittersRCV000526391

NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)

SNV
Germline

Chr9:6553442

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4980246

rs_567167527

3 SubmittersRCV000560893

NM_000170.3(GLDC):c.2310C>A (p.Ile770=)

SNV
Germline

Chr9:6554674

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

CA463584687

rs_765661419

3 SubmittersRCV000529827 RCV002265791

NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro)

SNV
Germline

Chr9:6565391

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA372884488

rs_763517274

1 SubmittersRCV000550531

NM_000170.3(GLDC):c.1665+7A>T

SNV
Germline

Chr9:6588611

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4980597

rs_759573888

2 SubmittersRCV000556935

NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)

SNV
Germline

Chr9:6645310

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
Inborn genetic diseases
GLDC-related disorder

Criteria Provided
Conflicting Classifications

CA4981276

rs_141601131

5 SubmittersRCV000526664 RCV001550875 RCV002527767 RCV003942780

NM_004483.5(GCSH):c.53C>T (p.Ala18Val)

SNV
Germline

Chr16:81096226

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA8186830

rs_540997326

3 SubmittersRCV000858103 RCV000554714

NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)

SNV
Germline

Chr9:6604775

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA372896071

rs_141014950

2 SubmittersRCV000588380 RCV001860120

NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)

SNV
Germline

Chr9:6620217

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

CA4981155

rs_376578742

2 SubmittersRCV001389830

NM_000481.4(AMT):c.91-9C>T

SNV
Germline

Chr3:49422280

Conflicting classifications of pathogenicity

not specified
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA2398477

rs_761235679

3 SubmittersRCV000604351 RCV000638290

NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)

SNV
Germline

Chr9:6604591

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

No Assertion Criteria Provided

CA372895254

rs_1554648060

3 SubmittersRCV000616020 RCV001702691

NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)

SNV
Germline

Chr9:6602147

Conflicting classifications of pathogenicity

Inborn genetic diseases
Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4980859

rs_150171524

9 SubmittersRCV000622676 RCV000666682 RCV002275092

NM_000481.4(AMT):c.1112G>A (p.Arg371His)

SNV
Germline

Chr3:49417640

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2398140

rs_147006017

5 SubmittersRCV000638268 RCV001090580

NM_000481.4(AMT):c.101G>A (p.Arg34His)

SNV
Germline

Chr3:49422261

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
AMT-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2398472

rs_138259479

5 SubmittersRCV000638292 RCV003937920 RCV003479181

NM_000481.4(AMT):c.696+2T>A

SNV
Germline

Chr3:49419258

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA352790036

rs_541594122

1 SubmittersRCV000638279

NM_000481.4(AMT):c.635T>C (p.Val212Ala)

SNV
Germline

Chr3:49419321

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
Inborn genetic diseases
not specified
Glycine encephalopathy 2

Criteria Provided
Conflicting Classifications

CA2398293

rs_201141125

9 SubmittersRCV000638278 RCV001312022 RCV002529876 RCV003155257 RCV003492123

NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)

SNV
Germline

Chr9:6556229

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4980383

rs_150943866

4 SubmittersRCV000638270 RCV001785687 RCV002528902

NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)

SNV
Germline

Chr9:6644686

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4981226

rs_770826242

3 SubmittersRCV000638267 RCV001552259

NM_000170.3(GLDC):c.2323C>T (p.His775Tyr)

SNV
Germline

Chr9:6553502

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA372879067

rs_1554643619

1 SubmittersRCV000638271

NM_000170.3(GLDC):c.1145G>A (p.Cys382Tyr)

SNV
Germline

Chr9:6602119

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

CA4980851

rs_759133707

1 SubmittersRCV000638285

NM_000170.3(GLDC):c.2352C>T (p.Pro784=)

SNV
Germline

Chr9:6553473

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

CA4980253

rs_367781728

5 SubmittersRCV000711817 RCV001085670

NM_000481.4(AMT):c.696+1G>A

SNV
Unknown

Chr3:49419259

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1553638460

1 SubmittersRCV000664663

NM_000481.4(AMT):c.212A>C (p.His71Pro)

SNV
Germline

Chr3:49422150

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

rs_1053797603

3 SubmittersRCV000666301 RCV004568499

NM_000481.4(AMT):c.664C>T (p.Arg222Cys)

SNV
Germline

Chr3:49419292

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_781466698

6 SubmittersRCV000668200 RCV004568513

NM_000481.4(AMT):c.555C>T (p.Pro185=)

SNV
Germline

Chr3:49419401

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Inborn genetic diseases
AMT-related disorder

Criteria Provided
Conflicting Classifications

rs_144790394

5 SubmittersRCV000669300 RCV002531223 RCV003892519

NM_000481.4(AMT):c.515T>C (p.Leu172Pro)

SNV
Germline

Chr3:49419745

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

rs_1366977126

3 SubmittersRCV000674715 RCV004568568

NM_000481.4(AMT):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr3:49419764

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_558998633

4 SubmittersRCV000673783

NM_000481.4(AMT):c.280C>T (p.Arg94Trp)

SNV
Germline

Chr3:49421551

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1126422

5 SubmittersRCV000674000 RCV004568563

NM_032316.3(NICN1):c.*2325C>T

SNV
Germline

Chr3:49422508

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

rs_753743263

3 SubmittersRCV000671316 RCV003403561

NM_000481.4(AMT):c.794G>A (p.Arg265His)

SNV
Germline

Chr3:49419054

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided
Glycine encephalopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_757918826

6 SubmittersRCV000665764 RCV002255159 RCV003492125

NM_000481.4(AMT):c.793C>T (p.Arg265Cys)

SNV
Germline

Chr3:49419055

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

rs_779483959

3 SubmittersRCV000672693 RCV004568549

NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)

SNV
Germline

Chr3:49417665

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

rs_1167886830

4 SubmittersRCV000669683 RCV003403556

NM_000481.4(AMT):c.1033+2T>C

SNV
Germline

Chr3:49417816

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1553638247

2 SubmittersRCV000666875

NM_000481.4(AMT):c.958C>T (p.Arg320Cys)

SNV
Germline

Chr3:49417893

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_866625610

5 SubmittersRCV000672268 RCV003492126

NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)

SNV
Germline

Chr9:6533097

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1554641505

2 SubmittersRCV000670173

NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)

SNV
Germline

Chr9:6533117

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

rs_749512886

3 SubmittersRCV000669902 RCV004568533

NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)

SNV
Germline

Chr9:6533118

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

rs_1288008254

3 SubmittersRCV000670172 RCV003989577

NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)

SNV
Germline

Chr9:6534775

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
not specified
Inborn genetic diseases
Glycine encephalopathy 1

Criteria Provided
Conflicting Classifications

rs_147472391

13 SubmittersRCV000669842 RCV000992083 RCV002271558 RCV002531239 RCV003889956

NM_000170.3(GLDC):c.2838+2T>C

SNV
Germline

Chr9:6536062

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554641887

3 SubmittersRCV000674862

NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)

SNV
Germline

Chr9:6540138

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

rs_753759723

3 SubmittersRCV000673148 RCV004526006

NM_000170.3(GLDC):c.2315+2T>A

SNV
Germline

Chr9:6554667

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554643738

3 SubmittersRCV000673967

NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)

SNV
Germline

Chr9:6554746

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_749882600

2 SubmittersRCV000670618

NM_000170.3(GLDC):c.1927-4G>A

SNV
Germline

Chr9:6558688

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_576723612

5 SubmittersRCV000670066 RCV003424273

NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)

SNV
Germline

Chr9:6592910

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_777365335

2 SubmittersRCV000669887

NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)

SNV
Germline

Chr9:6602156

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_570097430

3 SubmittersRCV000670163

NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)

SNV
Germline

Chr9:6604613

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_373263202

2 SubmittersRCV000670628

NM_000170.3(GLDC):c.2458-1G>T

SNV
Unknown

Chr9:6550915

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1554643370

1 SubmittersRCV000671221

NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)

SNV
Germline

Chr9:6554687

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_750384225

2 SubmittersRCV000670171

NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)

SNV
Germline

Chr9:6554703

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_386833549

4 SubmittersRCV000671712 RCV001805794

NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)

SNV
Germline

Chr9:6558641

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1301895668

2 SubmittersRCV000664632

NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)

SNV
Germline

Chr9:6565392

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_751025203

2 SubmittersRCV000670170

NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)

SNV
Germline

Chr9:6588677

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1286882965

2 SubmittersRCV000670145

NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)

SNV
Germline

Chr9:6602180

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_10975674

2 SubmittersRCV000670165

NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)

SNV
Germline

Chr9:6605193

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1554648117

3 SubmittersRCV000674678

NM_000170.3(GLDC):c.335-1G>C

SNV
Germline

Chr9:6620320

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554649675

2 SubmittersRCV000666250

NM_000170.3(GLDC):c.334+1G>T

SNV
Germline

Chr9:6644613

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_978795483

4 SubmittersRCV000674197 RCV003128722

NM_000170.3(GLDC):c.334+1G>C

SNV
Germline

Chr9:6644613

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_978795483

2 SubmittersRCV000671228

NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr9:6645496

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554652870

2 SubmittersRCV000666921

NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)

SNV
Germline

Chr9:6536104

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_758029533

5 SubmittersRCV000666803 RCV001092996

NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)

SNV
Germline

Chr9:6540132

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_925908885

2 SubmittersRCV000671933

NM_000170.3(GLDC):c.2458-2A>G

SNV
Germline

Chr9:6550916

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1259354298

2 SubmittersRCV000670072

NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)

SNV
Germline

Chr9:6553508

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_373618804

2 SubmittersRCV000670154

NM_000170.3(GLDC):c.1850+1G>T

SNV
Germline

Chr9:6587140

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_774099283

2 SubmittersRCV000673215

NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)

SNV
Germline

Chr9:6588619

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_765384489

4 SubmittersRCV000670183 RCV001311342 RCV003226359

NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)

SNV
Germline

Chr9:6588631

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_751822565

3 SubmittersRCV000670627 RCV002253555

NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter)

SNV
Unknown

Chr9:6595081

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1226098656

1 SubmittersRCV000670150

NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)

SNV
Germline

Chr9:6595092

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_767200188

2 SubmittersRCV000670162

NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)

SNV
Germline

Chr9:6645255

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_386833559

4 SubmittersRCV000671778 RCV002225714 RCV004526747

NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)

SNV
Germline

Chr9:6533100

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1406713104

4 SubmittersRCV000664682

NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)

SNV
Germline

Chr9:6536173

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_759933539

2 SubmittersRCV000670164

NM_000170.3(GLDC):c.2666-1G>A

SNV
Germline

Chr9:6536237

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1429861000

2 SubmittersRCV000671620

NM_000170.3(GLDC):c.1738C>G (p.His580Asp)

SNV
Germline

Chr9:6587253

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1164241828

3 SubmittersRCV000664595

NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)

SNV
Germline

Chr9:6587268

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554646529

3 SubmittersRCV000669298 RCV000760511

NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)

SNV
Germline

Chr9:6588432

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1554646634

2 SubmittersRCV000674854

NM_000170.3(GLDC):c.1642C>G (p.Leu548Val)

SNV
Unknown

Chr9:6588641

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1554646653

1 SubmittersRCV000666420

NM_000170.3(GLDC):c.1401+1G>A

SNV
Germline

Chr9:6592850

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1211616091

3 SubmittersRCV000674732

NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)

SNV
Germline

Chr9:6592871

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_761957837

3 SubmittersRCV000667293 RCV002507157

NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)

SNV
Germline

Chr9:6604735

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1207147043

5 SubmittersRCV000670325 RCV003153796

NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)

SNV
Germline

Chr9:6605192

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_138484426

2 SubmittersRCV000672714

NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)

SNV
Germline

Chr9:6645476

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
GLDC-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1163356968

3 SubmittersRCV000669243 RCV003983163

NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)

SNV
Germline

Chr9:6645477

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1477860542

2 SubmittersRCV000668297

NM_000481.4(AMT):c.164G>A (p.Trp55Ter)

SNV
Germline

Chr3:49422198

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1559530507

1 SubmittersRCV000685122

NM_000170.3(GLDC):c.1580G>C (p.Ser527Thr)

SNV
Germline

Chr9:6589195

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1247180998

1 SubmittersRCV000704561

NM_000170.3(GLDC):c.329C>A (p.Pro110His)

SNV
Germline

Chr9:6644619

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371491621

2 SubmittersRCV000697476 RCV001766509

NM_000170.3(GLDC):c.2986C>T (p.Gln996Ter)

SNV
Germline

Chr9:6533094

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1296191006

1 SubmittersRCV000697307

NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)

SNV
Germline

Chr9:6556173

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_386833542

2 SubmittersRCV000704610

NM_000481.4(AMT):c.886C>T (p.Arg296Cys)

SNV
Germline

Chr3:49417965

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1056820947

3 SubmittersRCV000813481 RCV004569693

NM_000481.4(AMT):c.256C>T (p.Gln86Ter)

SNV
Germline

Chr3:49422106

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1575308888

1 SubmittersRCV000817660

NM_000481.4(AMT):c.148G>T (p.Val50Leu)

SNV
Germline

Chr3:49422214

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_148917929

3 SubmittersRCV000799186

NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)

SNV
Germline

Chr9:6536188

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_188269735

6 SubmittersRCV000792883 RCV001092997

NM_000170.3(GLDC):c.2455A>G (p.Lys819Glu)

SNV
Germline

Chr9:6553370

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1587922096

1 SubmittersRCV000824302

NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)

SNV
Germline

Chr9:6558680

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_386833535

2 SubmittersRCV000815807 RCV000999128

NM_000170.3(GLDC):c.1679T>C (p.Met560Thr)

SNV
Germline

Chr9:6588429

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1366947118

1 SubmittersRCV000806344

NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)

SNV
Germline

Chr9:6592935

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_151163582

2 SubmittersRCV000810838

NM_000170.3(GLDC):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr9:6610289

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_762989914

1 SubmittersRCV000805605

NM_000481.4(AMT):c.339+1G>A

SNV
Germline

Chr3:49421491

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1575308129

1 SubmittersRCV000806703

NM_000170.3(GLDC):c.2919+1G>C

SNV
Germline

Chr9:6534707

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_386833575

2 SubmittersRCV000795305

NM_000170.3(GLDC):c.1058+2T>A

SNV
Germline

Chr9:6604586

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1587959976

1 SubmittersRCV000797113

NM_000170.3(GLDC):c.2328C>T (p.Leu776=)

SNV
Germline

Chr9:6553497

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149600380

4 SubmittersRCV000876654 RCV001562642

NM_000170.3(GLDC):c.1554G>C (p.Pro518=)

SNV
Germline

Chr9:6589221

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377219563

4 SubmittersRCV000877138 RCV001593111

NM_000170.3(GLDC):c.1926+6T>C

SNV
Germline

Chr9:6565348

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200007891

4 SubmittersRCV000873659 RCV001571786

NM_000170.3(GLDC):c.1851-9C>G

SNV
Germline

Chr9:6565438

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377751310

2 SubmittersRCV000878923 RCV001556099

NM_000481.4(AMT):c.589G>C (p.Asp197His)

SNV
Germline

Chr3:49419367

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_200550585

3 SubmittersRCV000945389

NM_000170.3(GLDC):c.2874C>T (p.Ser958=)

SNV
Germline

Chr9:6534753

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146339375

5 SubmittersRCV000952179 RCV001311340

NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)

SNV
Germline

Chr9:6534764

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_148540696

3 SubmittersRCV000954004 RCV001558339

NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)

SNV
Germline

Chr9:6645310

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141601131

3 SubmittersRCV000889398 RCV001572559

NM_000170.3(GLDC):c.78G>C (p.Ser26=)

SNV
Germline

Chr9:6645422

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_915226152

4 SubmittersRCV000893331 RCV001585859

NM_000170.3(GLDC):c.255+8C>T

SNV
Germline

Chr9:6645237

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202086134

2 SubmittersRCV000920673 RCV001815458

NM_000170.3(GLDC):c.96G>T (p.Pro32=)

SNV
Germline

Chr9:6645404

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1430526811

3 SubmittersRCV000930592

NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)

SNV
Germline

Chr9:6534726

Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Single Submitter

rs_1587908683

2 SubmittersRCV000985036 RCV003992429

NM_000481.4(AMT):c.311G>A (p.Gly104Glu)

SNV
Germline

Chr3:49421520

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_753221440

2 SubmittersRCV000987272

NM_000170.3(GLDC):c.2838+1G>A

SNV
Unknown

Chr9:6536063

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_542056100

1 SubmittersRCV000988140

NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)

SNV
Unknown

ChrX:100406638

Likely pathogenic

Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9

No Assertion Criteria Provided

rs_1928356260

1 SubmittersRCV001199425

NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)

SNV
Germline

ChrX:100406679

Likely pathogenic

Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9

No Assertion Criteria Provided

rs_1928358562

1 SubmittersRCV001199424

NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)

SNV
Unknown

ChrX:100406926

Likely pathogenic

Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9

No Assertion Criteria Provided

rs_748611349

1 SubmittersRCV001199426

NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)

SNV
Germline

ChrX:100407475

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9
Developmental and epileptic encephalopathy, 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1928407580

3 SubmittersRCV001199421 RCV001368522 RCV003117667

NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)

SNV
Germline

ChrX:100407819

Likely pathogenic

Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9

No Assertion Criteria Provided

rs_1928431321

1 SubmittersRCV001199419

NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)

SNV
Germline

ChrX:100407996

Likely pathogenic

Non-ketotic hyperglycinemia
Developmental and epileptic encephalopathy, 9

No Assertion Criteria Provided

rs_1928446616

1 SubmittersRCV001199418

NM_000170.3(GLDC):c.1850+8C>A

SNV
Germline

Chr9:6587133

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1326427792

2 SubmittersRCV000999129 RCV002067633

NM_000170.3(GLDC):c.989A>G (p.His330Arg)

SNV
Germline

Chr9:6604657

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1267445922

2 SubmittersRCV000999132 RCV003387529

NM_000170.3(GLDC):c.714-8C>G

SNV
Germline

Chr9:6605286

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_746399537

2 SubmittersRCV001433228 RCV000999133

NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg)

SNV
Germline

Chr9:6592220

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1587950355

1 SubmittersRCV000995554

NM_000170.3(GLDC):c.2052+1G>A

SNV
Germline

Chr9:6558558

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_765906340

2 SubmittersRCV001004546

NM_000170.3(GLDC):c.1059-1G>T

SNV
Unknown

Chr9:6602206

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

rs_1587958061

1 SubmittersRCV001004547

NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)

SNV
Germline

Chr9:6587200

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141875337

3 SubmittersRCV001034170 RCV001546695

NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)

SNV
Germline

Chr9:6536147

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1817122724

1 SubmittersRCV001068202

NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)

SNV
Germline

Chr9:6550841

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_770743220

1 SubmittersRCV001053812

NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)

SNV
Germline

Chr9:6587163

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1251538998

2 SubmittersRCV001042986

NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)

SNV
Germline

Chr9:6604605

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818691758

1 SubmittersRCV001050271

NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)

SNV
Germline

Chr9:6610335

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_746124283

2 SubmittersRCV001042054

NM_000170.3(GLDC):c.89G>A (p.Trp30Ter)

SNV
Germline

Chr9:6645411

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1819724531

1 SubmittersRCV001063324

NM_000170.3(GLDC):c.471-1G>C

SNV
Germline

Chr9:6610357

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818826951

1 SubmittersRCV001060642

NM_000170.3(GLDC):c.2315+1G>T

SNV
Germline

Chr9:6554668

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1252460597

1 SubmittersRCV001041567

NM_000170.3(GLDC):c.713+1G>A

SNV
Germline

Chr9:6606591

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_903653902

1 SubmittersRCV001052086

NM_000481.4(AMT):c.665G>A (p.Arg222His)

SNV
Germline

Chr3:49419291

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia
Glycine encephalopathy 1
Glycine encephalopathy 2

Criteria Provided
Conflicting Classifications

rs_562695274

4 SubmittersRCV001090582 RCV001383888 RCV004570318 RCV003992441

NM_000170.3(GLDC):c.2397C>A (p.Thr799=)

SNV
Germline

Chr9:6553428

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_778396953

2 SubmittersRCV001090488 RCV002554814

NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)

SNV
Germline

Chr9:6556188

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_779434645

2 SubmittersRCV001095655

NM_000170.3(GLDC):c.1072A>T (p.Lys358Ter)

SNV
Germline

Chr9:6602192

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818624667

1 SubmittersRCV001095654

NM_000481.4(AMT):c.750C>T (p.Asn250=)

SNV
Germline

Chr3:49419098

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_141324034

2 SubmittersRCV001149056

NM_000170.3(GLDC):c.2925C>T (p.Phe975=)

SNV
Germline

Chr9:6533155

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1052505781

2 SubmittersRCV001168026

NM_000170.3(GLDC):c.2742A>T (p.Ala914=)

SNV
Germline

Chr9:6536160

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_374022098

2 SubmittersRCV001168798

NM_000170.3(GLDC):c.2148C>T (p.Leu716=)

SNV
Germline

Chr9:6556207

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_367750112

2 SubmittersRCV001167485

NM_000170.3(GLDC):c.2145C>T (p.Asp715=)

SNV
Germline

Chr9:6556210

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_769158507

2 SubmittersRCV001167486

NM_000170.3(GLDC):c.2028C>T (p.Ile676=)

SNV
Germline

Chr9:6558583

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
GLDC-related disorder

Criteria Provided
Conflicting Classifications

rs_372604935

3 SubmittersRCV001167488 RCV003963106

NM_000170.3(GLDC):c.1830G>A (p.Gln610=)

SNV
Germline

Chr9:6587161

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_765268971

2 SubmittersRCV001168096

NM_000170.3(GLDC):c.1530G>A (p.Gly510=)

SNV
Germline

Chr9:6589245

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_145665442

2 SubmittersRCV001168862

NM_000170.3(GLDC):c.2570-10T>C

SNV
Germline

Chr9:6540156

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
GLDC-related disorder

Criteria Provided
Conflicting Classifications

rs_373987254

4 SubmittersRCV001168799 RCV001536195 RCV003938541

NM_000170.3(GLDC):c.1402-14T>G

SNV
Germline

Chr9:6592237

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_376719104

2 SubmittersRCV001165977

NM_000170.3(GLDC):c.861+11C>G

SNV
Germline

Chr9:6605120

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_757254927

2 SubmittersRCV001167544

NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)

SNV
Germline

Chr9:6620259

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_386833576

2 SubmittersRCV001216319

NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)

SNV
Germline

Chr9:6534748

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1410625190

1 SubmittersRCV001205237

NM_000170.3(GLDC):c.1059-1G>C

SNV
Germline

Chr9:6602206

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1587958061

1 SubmittersRCV001206860

NM_000170.3(GLDC):c.2052+1G>C

SNV
Germline

Chr9:6558558

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_765906340

1 SubmittersRCV001223275

NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)

SNV
Germline

Chr9:6550874

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1275684568

4 SubmittersRCV001237271

NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter)

SNV
Germline

Chr9:6587226

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818289368

1 SubmittersRCV001238061

NM_000481.4(AMT):c.283G>A (p.Val95Met)

SNV
Germline

Chr3:49421548

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_183396486

3 SubmittersRCV001239740

NM_000170.3(GLDC):c.1678A>G (p.Met560Val)

SNV
Germline

Chr9:6588430

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818312039

1 SubmittersRCV001246746

NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)

SNV
Germline

Chr9:6610195

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_139931025

3 SubmittersRCV001239243 RCV001539015

NM_000170.3(GLDC):c.124G>A (p.Gly42Arg)

SNV
Germline

Chr9:6645376

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_190430477

3 SubmittersRCV001248131 RCV001546727 RCV002570369

NM_000481.4(AMT):c.992G>A (p.Arg331Gln)

SNV
Germline

Chr3:49417859

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1368099067

4 SubmittersRCV001257431 RCV003886497

NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter)

SNV
Unknown

Chr9:6536102

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1817121202

1 SubmittersRCV001263747

NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter)

SNV
Unknown

Chr9:6536173

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_759933539

1 SubmittersRCV001263748

NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter)

SNV
Unknown

Chr9:6536177

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1817123754

1 SubmittersRCV001263749

NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)

SNV
Germline

Chr9:6540087

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_765893483

2 SubmittersRCV001263750

NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter)

SNV
Unknown

Chr9:6550855

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1817497939

1 SubmittersRCV001263837

NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter)

SNV
Unknown

Chr9:6556258

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_149694787

1 SubmittersRCV001263838

NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter)

SNV
Unknown

Chr9:6558597

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1563836857

1 SubmittersRCV001263839

NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter)

SNV
Unknown

Chr9:6587217

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818289122

1 SubmittersRCV001263840

NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter)

SNV
Unknown

Chr9:6587223

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818289261

1 SubmittersRCV001263841

NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter)

SNV
Unknown

Chr9:6589265

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1038321056

1 SubmittersRCV001263842

NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter)

SNV
Unknown

Chr9:6592889

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818404451

1 SubmittersRCV001263843

NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter)

SNV
Unknown

Chr9:6592913

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818405533

1 SubmittersRCV001264010

NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)

SNV
Germline

Chr9:6592964

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1818407147

2 SubmittersRCV001264011

NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter)

SNV
Unknown

Chr9:6604607

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_555359738

1 SubmittersRCV001264012

NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter)

SNV
Unknown

Chr9:6604634

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818692381

1 SubmittersRCV001264013

NM_000170.3(GLDC):c.900C>A (p.Cys300Ter)

SNV
Unknown

Chr9:6604746

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_143256976

1 SubmittersRCV001264014

NM_000170.3(GLDC):c.896T>A (p.Leu299Ter)

SNV
Unknown

Chr9:6604750

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818695432

1 SubmittersRCV001264015

NM_000170.3(GLDC):c.853C>T (p.Gln285Ter)

SNV
Germline

Chr9:6605139

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1818703974

2 SubmittersRCV001264016

NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter)

SNV
Unknown

Chr9:6610194

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_776895767

1 SubmittersRCV001264017

NM_000170.3(GLDC):c.622C>T (p.Gln208Ter)

SNV
Unknown

Chr9:6610205

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1163351205

1 SubmittersRCV001264342

NM_000170.3(GLDC):c.552T>A (p.Cys184Ter)

SNV
Unknown

Chr9:6610275

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_759699162

1 SubmittersRCV001264343

NM_000170.3(GLDC):c.466G>T (p.Gly156Ter)

SNV
Unknown

Chr9:6620188

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1819058509

1 SubmittersRCV001264344

NM_000170.3(GLDC):c.433C>T (p.Gln145Ter)

SNV
Unknown

Chr9:6620221

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1819059889

1 SubmittersRCV001264345

NM_000170.3(GLDC):c.302T>A (p.Leu101Ter)

SNV
Unknown

Chr9:6644646

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1819702000

1 SubmittersRCV001264346

NM_000481.4(AMT):c.797T>C (p.Leu266Pro)

SNV
Germline

Chr3:49419051

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_2049051428

2 SubmittersRCV001265541

NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr)

SNV
Germline

Chr3:49417694

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_768293167

1 SubmittersRCV001305807

NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp)

SNV
Germline

Chr9:6605196

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818705322

1 SubmittersRCV001325842

NM_000170.3(GLDC):c.848C>G (p.Ala283Gly)

SNV
Germline

Chr9:6605144

Likely pathogenic

Non-ketotic hyperglycinemia

No Assertion Criteria Provided

rs_2129898042

1 SubmittersRCV001638060

NM_000481.4(AMT):c.696G>A (p.Glu232=)

SNV
Unknown

Chr3:49419260

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1352631535

1 SubmittersRCV001329302

NM_000481.4(AMT):c.665G>T (p.Arg222Leu)

SNV
Germline

Chr3:49419291

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_562695274

1 SubmittersRCV001329301

NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)

SNV
Germline

Chr9:6602186

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_373482451

2 SubmittersRCV001331040

NM_000481.4(AMT):c.2T>C (p.Met1Thr)

SNV
Germline

Chr3:49422449

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1266259634

1 SubmittersRCV001972587

NM_000170.3(GLDC):c.1261+2T>A

SNV
Germline

Chr9:6595012

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818463608

1 SubmittersRCV003511751

NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)

SNV
Germline

Chr9:6565428

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia
Retinitis pigmentosa

Criteria Provided
Multiple Submitters
No Conflicts

rs_758575745

2 SubmittersRCV001360323 RCV004545214

NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)

SNV
Germline

Chr9:6536224

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_367987650

2 SubmittersRCV001377475

NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala)

SNV
Germline

Chr9:6554681

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129719653

1 SubmittersRCV001379152

NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile)

SNV
Germline

Chr9:6587144

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818287644

1 SubmittersRCV001377093

NM_000481.4(AMT):c.1033+1G>C

SNV
Germline

Chr3:49417817

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_2107928969

2 SubmittersRCV001381218

NM_000481.4(AMT):c.317T>C (p.Ile106Thr)

SNV
Germline

Chr3:49421514

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1249645541

2 SubmittersRCV001383889

NM_000481.4(AMT):c.259-2A>C

SNV
Germline

Chr3:49421574

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_748522054

1 SubmittersRCV001381284

NM_000481.4(AMT):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr3:49422184

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2107937536

1 SubmittersRCV001382319

NM_000481.4(AMT):c.2T>A (p.Met1Lys)

SNV
Germline

Chr3:49422449

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1266259634

1 SubmittersRCV001383790

NM_000170.3(GLDC):c.2596G>C (p.Asp866His)

SNV
Germline

Chr9:6540120

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129663304

1 SubmittersRCV001387004

NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter)

SNV
Germline

Chr9:6550902

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1447727878

1 SubmittersRCV001386717

NM_000170.3(GLDC):c.1789G>T (p.Glu597Ter)

SNV
Germline

Chr9:6587202

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129831711

1 SubmittersRCV001389070

NM_000170.3(GLDC):c.1718G>A (p.Trp573Ter)

SNV
Germline

Chr9:6587273

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_959935793

1 SubmittersRCV001389339

NM_000170.3(GLDC):c.872G>A (p.Cys291Tyr)

SNV
Germline

Chr9:6604774

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_777632051

1 SubmittersRCV001389829

NM_000170.3(GLDC):c.861+2T>A

SNV
Germline

Chr9:6605129

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129897960

1 SubmittersRCV001383294

NM_000170.3(GLDC):c.209C>G (p.Pro70Arg)

SNV
Germline

Chr9:6645291

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_776730073

1 SubmittersRCV001382232

NM_000170.3(GLDC):c.2T>A (p.Met1Lys)

SNV
Germline

Chr9:6645498

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_121964978

1 SubmittersRCV001385368

NM_000170.3(GLDC):c.661G>A (p.Val221Ile)

SNV
Germline

Chr9:6606644

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144043066

4 SubmittersRCV001409953 RCV002243109 RCV001773743 RCV002554002

NM_000170.3(GLDC):c.549G>A (p.Val183=)

SNV
Germline

Chr9:6610278

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371771891

2 SubmittersRCV001411324 RCV001773746

NM_000170.3(GLDC):c.2569+8T>G

SNV
Germline

Chr9:6550795

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_894742250

2 SubmittersRCV001488908

NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu)

SNV
Germline

Chr9:6587232

Conflicting classifications of pathogenicity

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_1296797567

2 SubmittersRCV001576079 RCV002568487

NM_000481.4(AMT):c.889C>T (p.Arg297Ter)

SNV
Germline

Chr3:49417962

Pathogenic/Likely pathogenic

Condition: not provided
Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_766422988

5 SubmittersRCV001702163 RCV001882778

NM_000170.3(GLDC):c.943G>A (p.Gly315Ser)

SNV
Germline

Chr9:6604703

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1292183482

1 SubmittersRCV001783379

NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter)

SNV
Germline

Chr9:6556180

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_147951756

2 SubmittersRCV001783380

NM_000170.3(GLDC):c.2315+2T>G

SNV
Germline

Chr9:6554667

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554643738

2 SubmittersRCV001782198

NM_000481.4(AMT):c.230C>A (p.Ser77Ter)

SNV
Germline

Chr3:49422132

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_386833680

1 SubmittersRCV001844504

NM_000170.3(GLDC):c.605C>G (p.Ala202Gly)

SNV
Germline

Chr9:6610222

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_386833583

1 SubmittersRCV002034263

NM_000170.3(GLDC):c.466G>C (p.Gly156Arg)

SNV
Germline

Chr9:6620188

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1819058509

1 SubmittersRCV001923338

NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp)

SNV
Germline

Chr9:6556157

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1817625926

1 SubmittersRCV002015099

NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu)

SNV
Germline

Chr9:6587147

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129831443

1 SubmittersRCV001989609

NM_000170.3(GLDC):c.707G>C (p.Arg236Pro)

SNV
Germline

Chr9:6606598

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_772832052

1 SubmittersRCV002015130

NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln)

SNV
Germline

Chr9:6534742

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1452327155

1 SubmittersRCV002013532

NM_000170.3(GLDC):c.2755T>G (p.Phe919Val)

SNV
Germline

Chr9:6536147

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1817122724

1 SubmittersRCV001959283

NM_000170.3(GLDC):c.1903C>T (p.Gln635Ter)

SNV
Germline

Chr9:6565377

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129758198

1 SubmittersRCV001934250

NM_000170.3(GLDC):c.714-2A>G

SNV
Germline

Chr9:6605280

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1170385434

1 SubmittersRCV001984394

NM_000170.3(GLDC):c.77C>A (p.Ser26Ter)

SNV
Germline

Chr9:6645423

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2130032664

1 SubmittersRCV001919165

NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr)

SNV
Germline

Chr9:6602137

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1300550278

1 SubmittersRCV001993654

NM_000481.4(AMT):c.887G>T (p.Arg296Leu)

SNV
Germline

Chr3:49417964

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_386833690

1 SubmittersRCV001968995

NM_000481.4(AMT):c.819T>A (p.Tyr273Ter)

SNV
Germline

Chr3:49419029

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2107931458

1 SubmittersRCV002037709

NM_000170.3(GLDC):c.255+3A>T

SNV
Germline

Chr9:6645242

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1417674040

1 SubmittersRCV001999070

NM_000170.3(GLDC):c.449A>G (p.Asn150Ser)

SNV
Germline

Chr9:6620205

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_386833578

1 SubmittersRCV001938480

NM_000170.3(GLDC):c.467G>A (p.Gly156Glu)

SNV
Germline

Chr9:6620187

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129948795

1 SubmittersRCV001961771

NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly)

SNV
Germline

Chr9:6533118

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1288008254

1 SubmittersRCV002029780

NM_000170.3(GLDC):c.798C>G (p.Tyr266Ter)

SNV
Germline

Chr9:6605194

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129898271

1 SubmittersRCV001880795

NM_000170.3(GLDC):c.2691G>A (p.Trp897Ter)

SNV
Germline

Chr9:6536211

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129649998

1 SubmittersRCV001970112

NM_000170.3(GLDC):c.322G>T (p.Glu108Ter)

SNV
Germline

Chr9:6644626

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2130029228

1 SubmittersRCV001992724

NM_000170.3(GLDC):c.2720C>T (p.Pro907Leu)

SNV
Germline

Chr9:6536182

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129649871

1 SubmittersRCV001953700

NM_000170.3(GLDC):c.1896C>G (p.Tyr632Ter)

SNV
Germline

Chr9:6565384

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1272244088

1 SubmittersRCV001953702

NM_000170.3(GLDC):c.1898T>G (p.Leu633Ter)

SNV
Germline

Chr9:6565382

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129758221

1 SubmittersRCV001949673

NM_000481.4(AMT):c.293T>G (p.Met98Arg)

SNV
Germline

Chr3:49421538

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2107935989

1 SubmittersRCV002001336

NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr)

SNV
Germline

Chr9:6587148

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129831448

1 SubmittersRCV002025734

NM_000170.3(GLDC):c.2288G>A (p.Gly763Asp)

SNV
Germline

Chr9:6554696

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1374110692

1 SubmittersRCV002007219

NM_000481.4(AMT):c.847C>T (p.Pro283Ser)

SNV
Germline

Chr3:49419001

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_771214835

1 SubmittersRCV001915076

NM_000170.3(GLDC):c.2445G>A (p.Trp815Ter)

SNV
Germline

Chr9:6553380

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129714616

1 SubmittersRCV001994664

NM_000170.3(GLDC):c.714-1G>A

SNV
Germline

Chr9:6605279

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129898670

1 SubmittersRCV002022056

NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys)

SNV
Germline

Chr9:6554769

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_148775220

1 SubmittersRCV001983671

NM_000170.3(GLDC):c.2259C>G (p.His753Gln)

SNV
Germline

Chr9:6554725

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_2129719894

2 SubmittersRCV001922171

NM_000170.3(GLDC):c.1611C>G (p.Tyr537Ter)

SNV
Germline

Chr9:6588672

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1818317328

1 SubmittersRCV001920147

NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln)

SNV
Germline

Chr9:6602146

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129885269

1 SubmittersRCV001994485

NM_000170.3(GLDC):c.2019T>A (p.Tyr673Ter)

SNV
Germline

Chr9:6558592

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_774506115

1 SubmittersRCV001994499

NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp)

SNV
Germline

Chr9:6587145

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

rs_2129831435

2 SubmittersRCV001994500 RCV003323959

NM_000170.3(GLDC):c.1411T>C (p.Ser471Pro)

SNV
Germline

Chr9:6592214

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129850481

1 SubmittersRCV002007624

NM_000170.3(GLDC):c.1256C>G (p.Ser419Ter)

SNV
Germline

Chr9:6595019

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1227030484

1 SubmittersRCV001999705

NM_000170.3(GLDC):c.1108C>A (p.Gln370Lys)

SNV
Germline

Chr9:6602156

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_570097430

1 SubmittersRCV002035503

NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp)

SNV
Germline

Chr9:6534743

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1172061571

1 SubmittersRCV002034925

NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)

SNV
Germline

Chr9:6550890

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1209943477

2 SubmittersRCV001941898

NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)

SNV
Germline

Chr9:6620229

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129948971

2 SubmittersRCV001939557

NM_000170.3(GLDC):c.1142T>C (p.Ile381Thr)

SNV
Germline

Chr9:6602122

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_775502762

1 SubmittersRCV001942051

NM_000170.3(GLDC):c.236T>C (p.Leu79Pro)

SNV
Germline

Chr9:6645264

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2130031802

1 SubmittersRCV002000732

NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser)

SNV
Germline

Chr9:6536225

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129650066

1 SubmittersRCV001986682

NM_000481.4(AMT):c.248A>G (p.His83Arg)

SNV
Germline

Chr3:49422114

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1467607949

1 SubmittersRCV002002533

NM_000170.3(GLDC):c.1852G>T (p.Gly618Ter)

SNV
Germline

Chr9:6565428

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_758575745

1 SubmittersRCV001941627

NM_000170.3(GLDC):c.1083T>G (p.Tyr361Ter)

SNV
Germline

Chr9:6602181

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129885505

1 SubmittersRCV001946893

NM_000170.3(GLDC):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr9:6610349

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1264725941

1 SubmittersRCV001970223

NM_000170.3(GLDC):c.1740C>G (p.His580Gln)

SNV
Germline

Chr9:6587251

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1587946346

1 SubmittersRCV002001026

NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln)

SNV
Germline

Chr9:6588676

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_747853668

1 SubmittersRCV001956185

NM_000170.3(GLDC):c.2279A>T (p.His760Leu)

SNV
Germline

Chr9:6554705

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1817583687

1 SubmittersRCV002000776

NM_000170.3(GLDC):c.911C>A (p.Pro304Gln)

SNV
Germline

Chr9:6604735

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1207147043

1 SubmittersRCV002026185

NM_000481.4(AMT):c.664C>A (p.Arg222Ser)

SNV
Germline

Chr3:49419292

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_781466698

1 SubmittersRCV001961638

NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala)

SNV
Germline

Chr9:6554672

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_760077981

1 SubmittersRCV002005983

NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)

SNV
Germline

Chr9:6610322

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

rs_1356375715

3 SubmittersRCV001959050 RCV003226512

NM_000170.3(GLDC):c.2665+1G>A

SNV
Germline

Chr9:6540050

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_149070244

1 SubmittersRCV001975089

NM_000170.3(GLDC):c.1927-1G>A

SNV
Germline

Chr9:6558685

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129735367

1 SubmittersRCV001980573

NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr)

SNV
Germline

Chr9:6556158

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_2129725849

1 SubmittersRCV001977308

NM_000481.4(AMT):c.46C>T (p.Gln16Ter)

SNV
Germline

Chr3:49422405

Pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2049124862

2 SubmittersRCV002011866 RCV004571689

NM_000170.3(GLDC):c.2053-2A>C

SNV
Germline

Chr9:6556304

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_1323060528

1 SubmittersRCV002001594

NM_000170.3(GLDC):c.1402-1G>A

SNV
Germline

Chr9:6592224

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_386833525

1 SubmittersRCV001981249

NM_000170.3(GLDC):c.636-6C>T

SNV
Germline

Chr9:6606675

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_2129903875

2 SubmittersRCV002131285 RCV004046578

NM_000170.3(GLDC):c.166C>T (p.Leu56Phe)

SNV
Germline

Chr9:6645334

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374342418

3 SubmittersRCV002200445 RCV002260716 RCV004045593

NM_000481.4(AMT):c.463C>T (p.Leu155Phe)

SNV
Germline

Chr3:49420219

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201233398

2 SubmittersRCV002126067 RCV003161613

NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe)

SNV
Germline

Chr9:6553384

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

rs_763075374

1 SubmittersRCV002249058

NM_000170.3(GLDC):c.635+1G>A

SNV
Germline

Chr9:6610191

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1368757896

2 SubmittersRCV002249059

NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)

SNV
Germline

Chr9:6620209

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia

Criteria Provided
Conflicting Classifications

rs_183024300

2 SubmittersRCV002273351

NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)

SNV
Unknown

Chr9:6588699

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002306480

NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)

SNV
Unknown

Chr9:6536159

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002309861

NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)

SNV
Unknown

Chr9:6565407

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002310004

NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)

SNV
Unknown

Chr9:6610300

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002308013

NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)

SNV
Unknown

Chr9:6610334

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002308419

NM_000170.3(GLDC):c.2885G>C (p.Arg962Pro)

SNV
Germline

Chr9:6534742

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003058211

NM_000170.3(GLDC):c.2838+5G>T

SNV
Germline

Chr9:6536059

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003062195

NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)

SNV
Germline

Chr9:6550856

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003037311 RCV004526957

NM_000170.3(GLDC):c.2236G>C (p.Asp746His)

SNV
Germline

Chr9:6554748

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003062196

NM_000170.3(GLDC):c.1851-1G>A

SNV
Germline

Chr9:6565430

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003058212

NM_000170.3(GLDC):c.1611C>A (p.Tyr537Ter)

SNV
Germline

Chr9:6588672

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003058213

NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)

SNV
Germline

Chr9:6602116

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003062197

NM_000170.3(GLDC):c.1097A>G (p.Gln366Arg)

SNV
Germline

Chr9:6602167

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003062198

NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)

SNV
Germline

Chr9:6605181

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003073158

NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)

SNV
Germline

Chr9:6602119

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003088245

NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)

SNV
Germline

Chr9:6587144

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003085003

NM_000481.4(AMT):c.991C>T (p.Arg331Trp)

SNV
Germline

Chr3:49417860

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003087006

NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)

SNV
Germline

Chr9:6554748

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002624851

NM_000481.4(AMT):c.697-1G>A

SNV
Germline

Chr3:49419152

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002624512

NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)

SNV
Germline

Chr3:49417651

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002664312

NM_000170.3(GLDC):c.452T>G (p.Leu151Ter)

SNV
Germline

Chr9:6620202

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002578753

NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)

SNV
Germline

Chr9:6556158

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002714950

NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)

SNV
Germline

Chr9:6588631

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002690448

NM_000170.3(GLDC):c.2665+1G>T

SNV
Germline

Chr9:6540050

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002751326

NM_000170.3(GLDC):c.2203-2A>T

SNV
Germline

Chr9:6554783

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002791451

NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)

SNV
Germline

Chr9:6556209

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002791168

NM_000481.4(AMT):c.91-2A>G

SNV
Germline

Chr3:49422273

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002814674

NM_000481.4(AMT):c.886C>G (p.Arg296Gly)

SNV
Germline

Chr3:49417965

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002829439

NM_000481.4(AMT):c.931C>T (p.Gln311Ter)

SNV
Germline

Chr3:49417920

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002830118

NM_000170.3(GLDC):c.1666-1G>A

SNV
Germline

Chr9:6588443

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002835370

NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)

SNV
Germline

Chr9:6592213

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002866546

NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)

SNV
Germline

Chr9:6604591

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002889371

NM_000481.4(AMT):c.281G>A (p.Arg94Gln)

SNV
Germline

Chr3:49421550

Conflicting classifications of pathogenicity

Non-ketotic hyperglycinemia
AMT-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002886188 RCV003898569

NM_000170.3(GLDC):c.635+1G>T

SNV
Germline

Chr9:6610191

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002867703

NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)

SNV
Germline

Chr3:49417665

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV002972569

NM_000170.3(GLDC):c.850C>A (p.His284Asn)

SNV
Germline

Chr9:6605142

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003009089

NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)

SNV
Germline

Chr9:6554697

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003011655

NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)

SNV
Germline

Chr9:6620204

Pathogenic/Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003008476

NM_000481.4(AMT):c.1033+1G>A

SNV
Germline

Chr3:49417817

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003023656

NM_000170.3(GLDC):c.1058+2T>C

SNV
Germline

Chr9:6604586

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003047565

NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)

SNV
Germline

Chr9:6604606

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003040251

NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)

SNV
Germline

Chr9:6602146

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003032967

NM_000481.4(AMT):c.90+1G>T

SNV
Germline

Chr3:49422360

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003063840

NM_000170.3(GLDC):c.256-2A>G

SNV
Germline

Chr9:6644694

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003123373

NM_000170.3(GLDC):c.391A>T (p.Arg131Ter)

SNV
Germline

Chr9:6620263

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003138953

NM_000481.4(AMT):c.339+2T>C

SNV
Germline

Chr3:49421490

Likely pathogenic

Non-ketotic hyperglycinemia
Glycine encephalopathy 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003147203 RCV003492842

NM_000170.3(GLDC):c.1155+1G>T

SNV
Germline

Chr9:6602108

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003143334

NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)

SNV
Unknown

Chr9:6556169

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003333657

NM_000170.3(GLDC):c.2690G>A (p.Trp897Ter)

SNV
Germline

Chr9:6536212

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003335898

NM_000481.4(AMT):c.877+5G>A

SNV
Germline

Chr3:49418966

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513590

NM_000481.4(AMT):c.845C>T (p.Thr282Ile)

SNV
Germline

Chr3:49419003

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513591

NM_000481.4(AMT):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr3:49419391

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513592

NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro)

SNV
Germline

Chr9:6540062

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513604

NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)

SNV
Germline

Chr9:6554708

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513605

NM_000170.3(GLDC):c.2183G>A (p.Gly728Glu)

SNV
Germline

Chr9:6556172

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513606

NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)

SNV
Germline

Chr9:6587169

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513607

NM_000170.3(GLDC):c.1401+5G>T

SNV
Germline

Chr9:6592846

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513609

NM_000170.3(GLDC):c.1096C>T (p.Gln366Ter)

SNV
Germline

Chr9:6602168

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513610

NM_000170.3(GLDC):c.861+2T>C

SNV
Germline

Chr9:6605129

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513611

NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)

SNV
Germline

Chr9:6610233

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513612

NM_000170.3(GLDC):c.490T>C (p.Tyr164His)

SNV
Germline

Chr9:6610337

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513615

NM_000170.3(GLDC):c.470+1G>C

SNV
Germline

Chr9:6620183

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003513616

NM_000170.3(GLDC):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr9:6606623

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003511706

NM_000170.3(GLDC):c.90G>A (p.Trp30Ter)

SNV
Germline

Chr9:6645410

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003511945

NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)

SNV
Germline

Chr3:49417650

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003512607

NM_000170.3(GLDC):c.2782C>T (p.Gln928Ter)

SNV
Germline

Chr9:6536120

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003624554

NM_000170.3(GLDC):c.2570-2A>G

SNV
Germline

Chr9:6540148

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003624630

NM_000170.3(GLDC):c.1261+1G>C

SNV
Germline

Chr9:6595013

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003624687

NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)

SNV
Germline

Chr9:6595081

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003624893

NM_000170.3(GLDC):c.2053-2A>G

SNV
Germline

Chr9:6556304

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625281

NM_000481.4(AMT):c.258+1G>A

SNV
Germline

Chr3:49422103

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625368

NM_000481.4(AMT):c.669T>A (p.Cys223Ter)

SNV
Germline

Chr3:49419287

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625464

NM_000170.3(GLDC):c.636-2A>G

SNV
Germline

Chr9:6606671

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625348

NM_000170.3(GLDC):c.636-1G>T

SNV
Germline

Chr9:6606670

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625480

NM_000170.3(GLDC):c.238C>T (p.Gln80Ter)

SNV
Germline

Chr9:6645262

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625288

NM_000170.3(GLDC):c.2203-1G>A

SNV
Germline

Chr9:6554782

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625337

NM_000481.4(AMT):c.697-2A>C

SNV
Germline

Chr3:49419153

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625468

NM_000481.4(AMT):c.826G>A (p.Asp276Asn)

SNV
Germline

Chr3:49419022

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625667

NM_000170.3(GLDC):c.471-1G>T

SNV
Germline

Chr9:6610357

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003625936

NM_000170.3(GLDC):c.395C>A (p.Ser132Ter)

SNV
Germline

Chr9:6620259

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003623940

NM_000170.3(GLDC):c.1580+1G>C

SNV
Germline

Chr9:6589194

Pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003624006

NM_000481.4(AMT):c.217C>G (p.Arg73Gly)

SNV
Germline

Chr3:49422145

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003624969

NM_000481.4(AMT):c.248A>C (p.His83Pro)

SNV
Germline

Chr3:49422114

Likely pathogenic

Non-ketotic hyperglycinemia

Criteria Provided
Single Submitter

1 SubmittersRCV003856526