ClinVar for MedGen (Select 815321) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25060331.	NM_018297.4(NGLY1):c.376C>T (p.Gln126Ter) GRCh37: Chr3:25805673 GRCh38: Chr3:25764182	NGLY1	Q126, Q84	Congenital disorder of deglycosylation	Pathogenic (May 15, 2023)	criteria provided, single submitter
Select item 24292722.	NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer) GRCh37: Chr3:25775431 GRCh38: Chr3:25733940	NGLY1		Congenital disorder of deglycosylation	Likely pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 24234433.	NC_000003.11:g.(?_25470223)_(25824881_?)del GRCh37: Chr3:25470223-25824881	NGLY1, RARB, TOP2B		Congenital disorder of deglycosylation, Microphthalmia, syndromic 12	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 24206474.	NM_018297.4(NGLY1):c.66G>C (p.Gln22His) GRCh37: Chr3:25824816 GRCh38: Chr3:25783325	NGLY1	Q22H	Congenital disorder of deglycosylation	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 24204235.	NM_018297.4(NGLY1):c.247-17A>G GRCh37: Chr3:25805819 GRCh38: Chr3:25764328	NGLY1		Congenital disorder of deglycosylation	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 24175456.	NM_018297.4(NGLY1):c.1244A>T (p.Asn415Ile) GRCh37: Chr3:25775379 GRCh38: Chr3:25733888	NGLY1	N373I, N397I, N415I	Congenital disorder of deglycosylation	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 24166947.	NM_018297.4(NGLY1):c.1757G>T (p.Arg586Leu) GRCh37: Chr3:25761537 GRCh38: Chr3:25720046	NGLY1	R544L, R568L, R586L	Congenital disorder of deglycosylation	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 22871908.	NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter) GRCh37: Chr3:25761538 GRCh38: Chr3:25720047	NGLY1	R544, R568, R586*	Inborn genetic diseases, Congenital disorder of deglycosylation	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21988459.	NM_018297.4(NGLY1):c.1261-19dup GRCh37: Chr3:25773992-25773993 GRCh38: Chr3:25732501-25732502	NGLY1		Congenital disorder of deglycosylation	Benign (Jan 27, 2022)	criteria provided, single submitter
Select item 219470110.	NM_018297.4(NGLY1):c.961C>A (p.Arg321=) GRCh37: Chr3:25778867 GRCh38: Chr3:25737376	NGLY1		Congenital disorder of deglycosylation	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 218052211.	NM_018297.4(NGLY1):c.1632A>T (p.Glu544Asp) GRCh37: Chr3:25761662 GRCh38: Chr3:25720171	NGLY1	E544D, E502D, E526D	Congenital disorder of deglycosylation	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 217626212.	NM_018297.4(NGLY1):c.351T>C (p.Asn117=) GRCh37: Chr3:25805698 GRCh38: Chr3:25764207	NGLY1		Congenital disorder of deglycosylation	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 216865113.	NM_018297.4(NGLY1):c.1198G>A (p.Ala400Thr) GRCh37: Chr3:25775425 GRCh38: Chr3:25733934	NGLY1	A400T, A382T, A358T	Congenital disorder of deglycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 215402614.	NM_018297.4(NGLY1):c.132-19A>C GRCh37: Chr3:25820198 GRCh38: Chr3:25778707	NGLY1		Congenital disorder of deglycosylation	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 214975715.	NM_018297.4(NGLY1):c.1149+19A>T GRCh37: Chr3:25777476 GRCh38: Chr3:25735985	NGLY1		Congenital disorder of deglycosylation	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 214576916.	NM_018297.4(NGLY1):c.1790A>T (p.Asp597Val) GRCh37: Chr3:25761126 GRCh38: Chr3:25719635	NGLY1	D597V, D555V, I538L, D579V	Congenital disorder of deglycosylation	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 214086417.	NM_018297.4(NGLY1):c.665A>G (p.Asn222Ser) GRCh37: Chr3:25781284 GRCh38: Chr3:25739793	NGLY1	N180S, N222S	Congenital disorder of deglycosylation	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 214064918.	NM_018297.4(NGLY1):c.1176C>G (p.Ser392=) GRCh37: Chr3:25775447 GRCh38: Chr3:25733956	NGLY1		Congenital disorder of deglycosylation	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 213201119.	NM_018297.4(NGLY1):c.236del (p.Gly79fs) GRCh37: Chr3:25820075 GRCh38: Chr3:25778584	NGLY1	G37fs, G79fs	Congenital disorder of deglycosylation	Pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 212796020.	NM_018297.4(NGLY1):c.1731G>C (p.Gln577His) GRCh37: Chr3:25761563 GRCh38: Chr3:25720072	NGLY1	Q559H, Q535H, Q577H	Congenital disorder of deglycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212720221.	NM_018297.4(NGLY1):c.1261-13dup GRCh37: Chr3:25773986-25773987 GRCh38: Chr3:25732495-25732496	NGLY1		Congenital disorder of deglycosylation	Benign (Apr 19, 2022)	criteria provided, single submitter
Select item 212261122.	NM_018297.4(NGLY1):c.1260+20T>C GRCh37: Chr3:25775343 GRCh38: Chr3:25733852	NGLY1		Congenital disorder of deglycosylation	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 211354523.	NM_018297.4(NGLY1):c.795G>T (p.Leu265=) GRCh37: Chr3:25781154 GRCh38: Chr3:25739663	NGLY1		Congenital disorder of deglycosylation	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210749324.	NM_018297.4(NGLY1):c.1052A>G (p.His351Arg) GRCh37: Chr3:25777592 GRCh38: Chr3:25736101	NGLY1	H309R, H351R	Congenital disorder of deglycosylation	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 210645325.	NM_018297.4(NGLY1):c.200C>G (p.Pro67Arg) GRCh37: Chr3:25820111 GRCh38: Chr3:25778620	NGLY1	P25R, P67R	Congenital disorder of deglycosylation	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 210558526.	NM_018297.4(NGLY1):c.255A>C (p.Thr85=) GRCh37: Chr3:25805794 GRCh38: Chr3:25764303	NGLY1		Congenital disorder of deglycosylation	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 210025627.	NM_018297.4(NGLY1):c.891C>A (p.Asn297Lys) GRCh37: Chr3:25778937 GRCh38: Chr3:25737446	NGLY1	N297K, N255K	Congenital disorder of deglycosylation	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 209755628.	NM_018297.4(NGLY1):c.1923A>G (p.Glu641=) GRCh37: Chr3:25760993 GRCh38: Chr3:25719502	NGLY1		Congenital disorder of deglycosylation	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 209636129.	NM_018297.4(NGLY1):c.619T>C (p.Ser207Pro) GRCh37: Chr3:25792628 GRCh38: Chr3:25751137	NGLY1	S207P, S165P	Congenital disorder of deglycosylation	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209551030.	NM_018297.4(NGLY1):c.1682G>A (p.Gly561Asp) GRCh37: Chr3:25761612 GRCh38: Chr3:25720121	NGLY1	G543D, G519D, G561D	Congenital disorder of deglycosylation	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209382731.	NM_018297.4(NGLY1):c.240T>C (p.Phe80=) GRCh37: Chr3:25820071 GRCh38: Chr3:25778580	NGLY1		Congenital disorder of deglycosylation	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 209382632.	NM_018297.4(NGLY1):c.1191G>A (p.Glu397=) GRCh37: Chr3:25775432 GRCh38: Chr3:25733941	NGLY1		Congenital disorder of deglycosylation	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 208874533.	NM_018297.4(NGLY1):c.587C>A (p.Ala196Asp) GRCh37: Chr3:25792660 GRCh38: Chr3:25751169	NGLY1	A154D, A196D	Congenital disorder of deglycosylation	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208553834.	NM_018297.4(NGLY1):c.881+17G>A GRCh37: Chr3:25781051 GRCh38: Chr3:25739560	NGLY1		Congenital disorder of deglycosylation	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 207697335.	NM_018297.4(NGLY1):c.247-6T>C GRCh37: Chr3:25805808 GRCh38: Chr3:25764317	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 207697136.	NM_018297.4(NGLY1):c.387A>C (p.Ala129=) GRCh37: Chr3:25805662 GRCh38: Chr3:25764171	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 207464337.	NM_018297.4(NGLY1):c.78G>T (p.Glu26Asp) GRCh37: Chr3:25824804 GRCh38: Chr3:25783313	NGLY1	E26D	Congenital disorder of deglycosylation	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 207195838.	NM_018297.4(NGLY1):c.1014G>C (p.Trp338Cys) GRCh37: Chr3:25777630 GRCh38: Chr3:25736139	NGLY1	W338C, W296C	Congenital disorder of deglycosylation	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 206798439.	NM_018297.4(NGLY1):c.1736del (p.Gly579fs) GRCh37: Chr3:25761558 GRCh38: Chr3:25720067	NGLY1	G537fs, G561fs, G579fs	Congenital disorder of deglycosylation	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 206249540.	NM_018297.4(NGLY1):c.925T>C (p.Cys309Arg) GRCh37: Chr3:25778903 GRCh38: Chr3:25737412	NGLY1	C267R, C309R	Congenital disorder of deglycosylation	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 206011041.	NM_018297.4(NGLY1):c.395C>T (p.Thr132Ile) GRCh37: Chr3:25805654 GRCh38: Chr3:25764163	NGLY1	T132I, T90I	Congenital disorder of deglycosylation	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205928042.	NM_018297.4(NGLY1):c.816G>A (p.Lys272=) GRCh37: Chr3:25781133 GRCh38: Chr3:25739642	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 205807443.	NM_018297.4(NGLY1):c.1745A>G (p.Glu582Gly) GRCh37: Chr3:25761549 GRCh38: Chr3:25720058	NGLY1	E564G, E540G, E582G	Congenital disorder of deglycosylation	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 205754844.	NM_018297.4(NGLY1):c.1261-15A>T GRCh37: Chr3:25773989 GRCh38: Chr3:25732498	NGLY1		Congenital disorder of deglycosylation	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 205463845.	NM_018297.4(NGLY1):c.1611+1G>C GRCh37: Chr3:25770623 GRCh38: Chr3:25729132	NGLY1		Congenital disorder of deglycosylation	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 205091146.	NM_018297.4(NGLY1):c.1203A>G (p.Arg401=) GRCh37: Chr3:25775420 GRCh38: Chr3:25733929	NGLY1		Congenital disorder of deglycosylation	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 205020347.	NM_018297.4(NGLY1):c.1765A>G (p.Thr589Ala) GRCh37: Chr3:25761529 GRCh38: Chr3:25720038	NGLY1	T547A, T571A, T589A	Congenital disorder of deglycosylation	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 203524148.	NM_018297.4(NGLY1):c.122A>G (p.Asn41Ser) GRCh37: Chr3:25824760 GRCh38: Chr3:25783269	NGLY1	N41S	Congenital disorder of deglycosylation	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 203336549.	NM_018297.4(NGLY1):c.162C>T (p.Ile54=) GRCh37: Chr3:25820149 GRCh38: Chr3:25778658	NGLY1		Congenital disorder of deglycosylation	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 203162250.	NM_018297.4(NGLY1):c.1044G>C (p.Arg348=) GRCh37: Chr3:25777600 GRCh38: Chr3:25736109	NGLY1		Congenital disorder of deglycosylation	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 203060451.	NM_018297.4(NGLY1):c.659-10A>T GRCh37: Chr3:25781300 GRCh38: Chr3:25739809	NGLY1		Congenital disorder of deglycosylation	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202618652.	NM_018297.4(NGLY1):c.1950A>G (p.Lys650=) GRCh37: Chr3:25760966 GRCh38: Chr3:25719475	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 202302453.	NM_018297.4(NGLY1):c.1212G>A (p.Lys404=) GRCh37: Chr3:25775411 GRCh38: Chr3:25733920	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 202032954.	NM_018297.4(NGLY1):c.1758A>G (p.Arg586=) GRCh37: Chr3:25761536 GRCh38: Chr3:25720045	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 201997655.	NM_018297.4(NGLY1):c.1662G>A (p.Lys554=) GRCh37: Chr3:25761632 GRCh38: Chr3:25720141	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 201879556.	NM_018297.4(NGLY1):c.1725T>G (p.Thr575=) GRCh37: Chr3:25761569 GRCh38: Chr3:25720078	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 201504457.	NM_018297.4(NGLY1):c.1882del (p.Gln628fs) GRCh37: Chr3:25761034 GRCh38: Chr3:25719543	NGLY1	Q586fs, Q628fs, Q610fs	Congenital disorder of deglycosylation	Pathogenic (Jul 8, 2022)	criteria provided, single submitter
Select item 201169758.	NM_018297.4(NGLY1):c.1894C>G (p.Leu632Val) GRCh37: Chr3:25761022 GRCh38: Chr3:25719531	NGLY1	L632V, L590V, L614V	Congenital disorder of deglycosylation	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 200930659.	NM_018297.4(NGLY1):c.1149+10A>T GRCh37: Chr3:25777485 GRCh38: Chr3:25735994	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 200764160.	NM_018297.4(NGLY1):c.30A>T (p.Ser10=) GRCh37: Chr3:25824852 GRCh38: Chr3:25783361	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 200699861.	NM_018297.4(NGLY1):c.215T>C (p.Val72Ala) GRCh37: Chr3:25820096 GRCh38: Chr3:25778605	NGLY1	V30A, V72A	Congenital disorder of deglycosylation	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200533862.	NM_018297.4(NGLY1):c.176C>G (p.Thr59Arg) GRCh37: Chr3:25820135 GRCh38: Chr3:25778644	NGLY1	T17R, T59R	Congenital disorder of deglycosylation	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200312663.	NM_018297.4(NGLY1):c.787T>C (p.Ser263Pro) GRCh37: Chr3:25781162 GRCh38: Chr3:25739671	NGLY1	S221P, S263P	Congenital disorder of deglycosylation	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 200228464.	NM_018297.4(NGLY1):c.1917C>T (p.Asp639=) GRCh37: Chr3:25760999 GRCh38: Chr3:25719508	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 200053065.	NM_018297.4(NGLY1):c.78G>C (p.Glu26Asp) GRCh37: Chr3:25824804 GRCh38: Chr3:25783313	NGLY1	E26D	Congenital disorder of deglycosylation	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 199878566.	NM_018297.4(NGLY1):c.1611+3A>C GRCh37: Chr3:25770621 GRCh38: Chr3:25729130	NGLY1		Congenital disorder of deglycosylation	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199864267.	NM_018297.4(NGLY1):c.1485T>C (p.Leu495=) GRCh37: Chr3:25770750 GRCh38: Chr3:25729259	NGLY1		Congenital disorder of deglycosylation	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199645368.	NM_018297.4(NGLY1):c.1483C>A (p.Leu495Ile) GRCh37: Chr3:25770752 GRCh38: Chr3:25729261	NGLY1	L453I, L477I, L495I	Congenital disorder of deglycosylation	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 199641269.	NM_018297.4(NGLY1):c.153T>C (p.Tyr51=) GRCh37: Chr3:25820158 GRCh38: Chr3:25778667	NGLY1		Congenital disorder of deglycosylation	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 199484370.	NM_018297.4(NGLY1):c.1110C>A (p.Gly370=) GRCh37: Chr3:25777534 GRCh38: Chr3:25736043	NGLY1		Congenital disorder of deglycosylation	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 199434871.	NM_018297.4(NGLY1):c.1696A>G (p.Ser566Gly) GRCh37: Chr3:25761598 GRCh38: Chr3:25720107	NGLY1	S524G, S548G, S566G	Congenital disorder of deglycosylation	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 199322172.	NM_018297.4(NGLY1):c.149A>C (p.Lys50Thr) GRCh37: Chr3:25820162 GRCh38: Chr3:25778671	NGLY1	K8T, K50T	Congenital disorder of deglycosylation	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 198676073.	NM_018297.4(NGLY1):c.1797T>A (p.Ser599Arg) GRCh37: Chr3:25761119 GRCh38: Chr3:25719628	NGLY1	S581R, S557R, S599R, V540D	Congenital disorder of deglycosylation	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 198595674.	NM_018297.4(NGLY1):c.467C>T (p.Ser156Leu) GRCh37: Chr3:25805582 GRCh38: Chr3:25764091	NGLY1	S114L, S156L	Congenital disorder of deglycosylation	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 198557475.	NM_018297.4(NGLY1):c.1953C>T (p.Phe651=) GRCh37: Chr3:25760963 GRCh38: Chr3:25719472	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 198439076.	NM_018297.4(NGLY1):c.492+8del GRCh37: Chr3:25805549 GRCh38: Chr3:25764058	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 197686977.	NM_018297.4(NGLY1):c.385G>A (p.Ala129Thr) GRCh37: Chr3:25805664 GRCh38: Chr3:25764173	NGLY1	A87T, A129T	Congenital disorder of deglycosylation	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 197659678.	NM_018297.4(NGLY1):c.1848A>G (p.Ala616=) GRCh37: Chr3:25761068 GRCh38: Chr3:25719577	NGLY1	Q557R	Congenital disorder of deglycosylation	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 197041379.	NM_018297.4(NGLY1):c.1552G>C (p.Glu518Gln) GRCh37: Chr3:25770683 GRCh38: Chr3:25729192	NGLY1	E476Q, E500Q, E518Q	Congenital disorder of deglycosylation	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 196702580.	NM_018297.4(NGLY1):c.247-12T>C GRCh37: Chr3:25805814 GRCh38: Chr3:25764323	NGLY1		Congenital disorder of deglycosylation	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 196702481.	NM_018297.4(NGLY1):c.1237A>G (p.Thr413Ala) GRCh37: Chr3:25775386 GRCh38: Chr3:25733895	NGLY1	T371A, T413A, T395A	Congenital disorder of deglycosylation	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 196555582.	NM_018297.4(NGLY1):c.612A>G (p.Lys204=) GRCh37: Chr3:25792635 GRCh38: Chr3:25751144	NGLY1		Congenital disorder of deglycosylation	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 196058883.	NM_018297.4(NGLY1):c.807T>A (p.Asp269Glu) GRCh37: Chr3:25781142 GRCh38: Chr3:25739651	NGLY1	D227E, D269E	Congenital disorder of deglycosylation	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 195546784.	NM_018297.4(NGLY1):c.14_15insGCCCGCTGGCGCTCAAGCATGGCGGCGGCGGCGGC (p.Leu6fs) GRCh37: Chr3:25824867-25824868 GRCh38: Chr3:25783376-25783377	NGLY1	L6fs	Congenital disorder of deglycosylation	Pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 194232885.	NM_018297.4(NGLY1):c.173A>G (p.Asn58Ser) GRCh37: Chr3:25820138 GRCh38: Chr3:25778647	NGLY1	N58S, N16S	Congenital disorder of deglycosylation	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 194190486.	NM_018297.4(NGLY1):c.15A>G (p.Ala5=) GRCh37: Chr3:25824867 GRCh38: Chr3:25783376	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 193581787.	NM_018297.4(NGLY1):c.1561G>A (p.Val521Met) GRCh37: Chr3:25770674 GRCh38: Chr3:25729183	NGLY1	V479M, V521M, V503M	Congenital disorder of deglycosylation	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 193164088.	NM_018297.4(NGLY1):c.1293A>G (p.Lys431=) GRCh37: Chr3:25773942 GRCh38: Chr3:25732451	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 192819789.	NM_018297.4(NGLY1):c.1347C>T (p.Thr449=) GRCh37: Chr3:25773888 GRCh38: Chr3:25732397	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 192149390.	NM_018297.4(NGLY1):c.492G>C (p.Thr164=) GRCh37: Chr3:25805557 GRCh38: Chr3:25764066	NGLY1		Congenital disorder of deglycosylation	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 172190491.	NM_018297.4(NGLY1):c.1114A>G (p.Lys372Glu) GRCh37: Chr3:25777530 GRCh38: Chr3:25736039	NGLY1	K330E, K372E	Congenital disorder of deglycosylation	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 171732492.	NM_018297.4(NGLY1):c.206G>T (p.Arg69Ile) GRCh37: Chr3:25820105 GRCh38: Chr3:25778614	NGLY1	R27I, R69I	Congenital disorder of deglycosylation	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 171551093.	NM_018297.4(NGLY1):c.542A>G (p.His181Arg) GRCh37: Chr3:25792705 GRCh38: Chr3:25751214	NGLY1	H139R, H181R	Congenital disorder of deglycosylation	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 171490394.	NM_018297.4(NGLY1):c.425C>T (p.Pro142Leu) GRCh37: Chr3:25805624 GRCh38: Chr3:25764133	NGLY1	P100L, P142L	Congenital disorder of deglycosylation	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 167446695.	NM_018297.4(NGLY1):c.381A>G (p.Gln127=) GRCh37: Chr3:25805668 GRCh38: Chr3:25764177	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 167407896.	NM_018297.4(NGLY1):c.247-13T>G GRCh37: Chr3:25805815 GRCh38: Chr3:25764324	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 166700597.	NM_018297.4(NGLY1):c.1482C>T (p.His494=) GRCh37: Chr3:25770753 GRCh38: Chr3:25729262	NGLY1		Congenital disorder of deglycosylation	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 166213698.	NM_018297.4(NGLY1):c.882-14del GRCh37: Chr3:25778960 GRCh38: Chr3:25737469	NGLY1		Congenital disorder of deglycosylation	Benign (Sep 2, 2021)	criteria provided, single submitter
Select item 166140299.	NM_018297.4(NGLY1):c.108C>T (p.Leu36=) GRCh37: Chr3:25824774 GRCh38: Chr3:25783283	NGLY1		Congenital disorder of deglycosylation	Likely benign (Jan 8, 2021)	criteria provided, single submitter
Select item 1655656100.	NM_018297.4(NGLY1):c.48C>T (p.Ala16=) GRCh37: Chr3:25824834 GRCh38: Chr3:25783343	NGLY1		Congenital disorder of deglycosylation	Likely benign (Dec 28, 2020)	criteria provided, single submitter

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