ClinVar for MedGen (Select 76469) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22019831.	NM_002951.5(RPN2):c.1678-4T>C GRCh37: Chr20:35862419 GRCh38: Chr20:37234016	RPN2		Congenital disorder of glycosylation	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 21956342.	NM_002951.5(RPN2):c.479+15C>T GRCh37: Chr20:35827643 GRCh38: Chr20:37199240	RPN2		Congenital disorder of glycosylation	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 21939563.	NM_002951.5(RPN2):c.25G>A (p.Val9Ile) GRCh37: Chr20:35812594 GRCh38: Chr20:37184191	RPN2	V9I	Congenital disorder of glycosylation	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 21667644.	NM_002951.5(RPN2):c.1617C>T (p.Thr539=) GRCh37: Chr20:35860734 GRCh38: Chr20:37232331	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 21640905.	NM_002951.5(RPN2):c.673G>A (p.Glu225Lys) GRCh37: Chr20:35833287 GRCh38: Chr20:37204884	RPN2	E193K, E225K, E241K, E68K	Congenital disorder of glycosylation	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 21593316.	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGCGGCCGGCACTCTT GRCh37: Chr20:35807790-35807791 GRCh38: Chr20:37179387-37179388	MROH8, RPN2		Congenital disorder of glycosylation	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 21392657.	NM_002951.5(RPN2):c.207+17C>T GRCh37: Chr20:35812793 GRCh38: Chr20:37184390	RPN2		Congenital disorder of glycosylation	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 21225758.	NM_002951.5(RPN2):c.51A>G (p.Ile17Met) GRCh37: Chr20:35812620 GRCh38: Chr20:37184217	RPN2	I17M	Congenital disorder of glycosylation	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 21202939.	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGGCGGCCGGCACTCTT GRCh37: Chr20:35807790-35807791 GRCh38: Chr20:37179387-37179388	MROH8, RPN2	G36fs	Congenital disorder of glycosylation	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 208515410.	NM_002951.5(RPN2):c.1299+12A>T GRCh37: Chr20:35854217 GRCh38: Chr20:37225814	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 207896011.	NM_002951.5(RPN2):c.1734A>G (p.Ile578Met) GRCh37: Chr20:35862479 GRCh38: Chr20:37234076	RPN2	I421M, I546M, I578M, I594M	Inborn genetic diseases, Congenital disorder of glycosylation	Uncertain significance (May 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207783412.	NM_002951.5(RPN2):c.804C>T (p.His268=) GRCh37: Chr20:35835789 GRCh38: Chr20:37207386	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 207766513.	NM_002951.5(RPN2):c.227G>C (p.Arg76Thr) GRCh37: Chr20:35826819 GRCh38: Chr20:37198416	RPN2	R76T	Congenital disorder of glycosylation	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 206336214.	NM_002951.5(RPN2):c.1608G>T (p.Arg536Ser) GRCh37: Chr20:35860725 GRCh38: Chr20:37232322	RPN2	R504S, R552S, R379S, R536S	Congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 205853615.	NM_002951.5(RPN2):c.1628A>G (p.Asn543Ser) GRCh37: Chr20:35860745 GRCh38: Chr20:37232342	RPN2	N386S, N543S, N559S, N511S	Congenital disorder of glycosylation	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 205213016.	NM_002951.5(RPN2):c.715G>A (p.Ala239Thr) GRCh37: Chr20:35835700 GRCh38: Chr20:37207297	RPN2	A239T, A82T, A207T, A255T	Congenital disorder of glycosylation	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 205150917.	NM_002951.5(RPN2):c.85C>T (p.Leu29Phe) GRCh37: Chr20:35812654 GRCh38: Chr20:37184251	RPN2	L29F	Congenital disorder of glycosylation	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 205104918.	NM_002951.5(RPN2):c.484G>A (p.Val162Ile) GRCh37: Chr20:35832292 GRCh38: Chr20:37203889	RPN2	V130I, V5I, V162I, V178I	Congenital disorder of glycosylation	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 204818319.	NM_002951.5(RPN2):c.1535C>T (p.Ser512Leu) GRCh37: Chr20:35858416 GRCh38: Chr20:37230013	RPN2	S480L, S355L, S512L, S528L	Congenital disorder of glycosylation	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 204603620.	NM_002951.5(RPN2):c.881A>G (p.Asn294Ser) GRCh37: Chr20:35838463 GRCh38: Chr20:37210060	RPN2	N137S, N294S, N310S, N262S	Congenital disorder of glycosylation	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 204103121.	NM_002951.5(RPN2):c.13+21_13+22insATAGACGGGGCCCCGCGGCCGGCACTCTT GRCh37: Chr20:35807790-35807791 GRCh38: Chr20:37179387-37179388	MROH8, RPN2	L38fs	Congenital disorder of glycosylation	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 202013322.	NM_002951.5(RPN2):c.442del (p.Thr149fs) GRCh37: Chr20:35827589 GRCh38: Chr20:37199186	RPN2	T117fs, T149fs	Congenital disorder of glycosylation	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 199675723.	NM_002951.5(RPN2):c.446C>T (p.Thr149Ile) GRCh37: Chr20:35827595 GRCh38: Chr20:37199192	RPN2	T149I, T117I	Congenital disorder of glycosylation	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 198616024.	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT GRCh37: Chr20:35807790-35807791 GRCh38: Chr20:37179387-37179388	MROH8, RPN2	A33fs	Congenital disorder of glycosylation	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 197971425.	NM_002951.5(RPN2):c.1310G>A (p.Arg437Gln) GRCh37: Chr20:35856963 GRCh38: Chr20:37228560	RPN2	R280Q, R437Q, R453Q, R405Q	Congenital disorder of glycosylation	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 196884426.	NM_002951.5(RPN2):c.1672G>A (p.Ala558Thr) GRCh37: Chr20:35860789 GRCh38: Chr20:37232386	RPN2	A526T, A574T, A558T, A401T	Congenital disorder of glycosylation	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 195531127.	NM_002951.5(RPN2):c.1371C>T (p.Asn457=) GRCh37: Chr20:35857024 GRCh38: Chr20:37228621	RPN2		Congenital disorder of glycosylation	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 195198528.	NM_002951.5(RPN2):c.773C>T (p.Ala258Val) GRCh37: Chr20:35835758 GRCh38: Chr20:37207355	RPN2	A101V, A274V, A226V, A258V	Congenital disorder of glycosylation	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 194260429.	NM_002951.5(RPN2):c.1019A>G (p.Lys340Arg) GRCh37: Chr20:35842195 GRCh38: Chr20:37213792	RPN2	K183R, K340R, K308R, K356R	Congenital disorder of glycosylation	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 192708630.	NM_002951.5(RPN2):c.886C>T (p.Leu296=) GRCh37: Chr20:35838468 GRCh38: Chr20:37210065	RPN2		Congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 190900331.	NM_002951.5(RPN2):c.1578T>C (p.Ile526=) GRCh37: Chr20:35858459 GRCh38: Chr20:37230056	RPN2		Congenital disorder of glycosylation	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 190900232.	NM_002951.5(RPN2):c.13+11G>T GRCh37: Chr20:35807783 GRCh38: Chr20:37179380	MROH8, RPN2	Q44K	Congenital disorder of glycosylation	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 190876633.	NM_002951.5(RPN2):c.1618G>A (p.Val540Met) GRCh37: Chr20:35860735 GRCh38: Chr20:37232332	RPN2	V508M, V540M, V556M, V383M	Congenital disorder of glycosylation	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 171837134.	NM_002951.5(RPN2):c.193G>T (p.Val65Leu) GRCh37: Chr20:35812762 GRCh38: Chr20:37184359	RPN2	V65L	Congenital disorder of glycosylation	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 170847135.	NM_005660.3(SLC35A2):c.308A>T (p.Glu103Val) GRCh37: ChrX:48763787 GRCh38: ChrX:48906510	SLC35A2	E103V, E116V, E131V, E42V, E79V	Congenital disorder of glycosylation	Likely pathogenic	criteria provided, single submitter
Select item 169855836.	NM_019109.5(ALG1):c.[212C>T;221A>T] GRCh37: Chr16:5122955 Chr16:5122964 GRCh38: Chr16:5072954 Chr16:5072963	ALG1, ALG1	S71F, H74L	not specified	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 167630037.	NM_015274.3(MAN2B2):c.440_442del (p.Ser147del) GRCh37: Chr4:6588769-6588771 GRCh38: Chr4:6587042-6587044	MAN2B2	S147del	Congenital disorder of glycosylation	Uncertain significance	no assertion criteria provided
Select item 167396738.	NM_002951.5(RPN2):c.1300-20T>G GRCh37: Chr20:35856933 GRCh38: Chr20:37228530	RPN2		Congenital disorder of glycosylation	Benign (Jul 16, 2022)	criteria provided, single submitter
Select item 165352139.	NM_002951.5(RPN2):c.1594G>A (p.Glu532Lys) GRCh37: Chr20:35860711 GRCh38: Chr20:37232308	RPN2	E375K, E500K, E532K, E548K	Congenital disorder of glycosylation	Likely benign (Nov 10, 2020)	criteria provided, single submitter
Select item 165022440.	NM_002951.5(RPN2):c.1353C>T (p.Ala451=) GRCh37: Chr20:35857006 GRCh38: Chr20:37228603	RPN2		Congenital disorder of glycosylation	Likely benign (Jan 19, 2021)	criteria provided, single submitter
Select item 162154841.	NM_002951.5(RPN2):c.1536G>A (p.Ser512=) GRCh37: Chr20:35858417 GRCh38: Chr20:37230014	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 160322942.	NM_002951.5(RPN2):c.1485C>T (p.Leu495=) GRCh37: Chr20:35857138 GRCh38: Chr20:37228735	RPN2		Congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 159794943.	NM_002951.5(RPN2):c.714C>T (p.Asn238=) GRCh37: Chr20:35835699 GRCh38: Chr20:37207296	RPN2		Congenital disorder of glycosylation	Likely benign (Dec 9, 2020)	criteria provided, single submitter
Select item 157655844.	NM_002951.5(RPN2):c.986+17T>A GRCh37: Chr20:35838585 GRCh38: Chr20:37210182	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 157332745.	NM_002951.5(RPN2):c.1147G>A (p.Val383Met) GRCh37: Chr20:35852335 GRCh38: Chr20:37223932	RPN2	V226M, V351M, V383M, V399M	Congenital disorder of glycosylation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 155739846.	NM_002951.5(RPN2):c.475C>T (p.Leu159=) GRCh37: Chr20:35827624 GRCh38: Chr20:37199221	RPN2		Congenital disorder of glycosylation	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 155571747.	NM_002951.5(RPN2):c.267C>T (p.Tyr89=) GRCh37: Chr20:35826859 GRCh38: Chr20:37198456	RPN2		Congenital disorder of glycosylation	Likely benign (Dec 8, 2020)	criteria provided, single submitter
Select item 155157548.	NM_002951.5(RPN2):c.303+14C>G GRCh37: Chr20:35826909 GRCh38: Chr20:37198506	RPN2		Congenital disorder of glycosylation	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 154924249.	NM_002951.5(RPN2):c.867+12A>G GRCh37: Chr20:35835864 GRCh38: Chr20:37207461	RPN2		Congenital disorder of glycosylation	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 153339250.	NM_002951.5(RPN2):c.1476C>T (p.Asn492=) GRCh37: Chr20:35857129 GRCh38: Chr20:37228726	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 11, 2021)	criteria provided, single submitter
Select item 148354551.	NM_019109.5(ALG1):c.1146G>A (p.Met382Ile) GRCh37: Chr16:5132633 GRCh38: Chr16:5082632	ALG1	M271I, M382I	Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 147232852.	NM_002951.5(RPN2):c.935C>G (p.Ser312Cys) GRCh37: Chr20:35838517 GRCh38: Chr20:37210114	RPN2	S312C, S155C, S328C, S280C	Congenital disorder of glycosylation	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 147096553.	NM_002951.5(RPN2):c.913G>C (p.Val305Leu) GRCh37: Chr20:35838495 GRCh38: Chr20:37210092	RPN2	V305L, V321L, V148L, V273L	Congenital disorder of glycosylation	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 145081454.	NM_002951.5(RPN2):c.1057G>A (p.Glu353Lys) GRCh37: Chr20:35842233 GRCh38: Chr20:37213830	RPN2	E369K, E196K, E321K, E353K	Congenital disorder of glycosylation	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 144483755.	NM_002951.5(RPN2):c.1855C>T (p.Arg619Trp) GRCh37: Chr20:35865084 GRCh38: Chr20:37236681	RPN2	R635W, R462W, R587W, R619W	Congenital disorder of glycosylation	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 140124856.	NM_002951.5(RPN2):c.64G>A (p.Ala22Thr) GRCh37: Chr20:35812633 GRCh38: Chr20:37184230	RPN2	A22T	Congenital disorder of glycosylation	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 140105057.	NM_002951.5(RPN2):c.1316A>G (p.His439Arg) GRCh37: Chr20:35856969 GRCh38: Chr20:37228566	RPN2	H282R, H439R, H455R, H407R	Congenital disorder of glycosylation	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 138912258.	NM_002951.5(RPN2):c.1322A>G (p.Gln441Arg) GRCh37: Chr20:35856975 GRCh38: Chr20:37228572	RPN2	Q409R, Q441R, Q457R, Q284R	Congenital disorder of glycosylation	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 118484559.	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) GRCh37: Chr11:118895643 GRCh38: Chr11:119024933	SLC37A4	R350, R423, R445*	Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Congenital disorder of glycosylation, type IIw	Pathogenic/Likely pathogenic (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118482460.	NM_001099922.3(ALG13):c.204AGA[1] (p.Glu69del) GRCh37: ChrX:110925481-110925483 GRCh38: ChrX:111682253-111682255	ALG13	E69del	Congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 118482361.	NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) GRCh37: ChrX:110988115 GRCh38: ChrX:111744887	ALG13	G894V, G972V	not provided	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 117089062.	NM_002951.5(RPN2):c.303+14C>T GRCh37: Chr20:35826909 GRCh38: Chr20:37198506	RPN2		Congenital disorder of glycosylation, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117051063.	NM_002951.5(RPN2):c.1678-7C>G GRCh37: Chr20:35862416 GRCh38: Chr20:37234013	RPN2		Congenital disorder of glycosylation	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 117027164.	NM_002951.5(RPN2):c.841G>A (p.Asp281Asn) GRCh37: Chr20:35835826 GRCh38: Chr20:37207423	RPN2	D124N, D249N, D281N, D297N	Congenital disorder of glycosylation, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117020665.	NM_002951.5(RPN2):c.691-19C>T GRCh37: Chr20:35835657 GRCh38: Chr20:37207254	RPN2		Congenital disorder of glycosylation, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116544766.	NM_002951.5(RPN2):c.1663C>T (p.Leu555=) GRCh37: Chr20:35860780 GRCh38: Chr20:37232377	RPN2		Congenital disorder of glycosylation	Benign (Jul 12, 2022)	criteria provided, single submitter
Select item 116488267.	NM_002951.5(RPN2):c.1671C>T (p.Phe557=) GRCh37: Chr20:35860788 GRCh38: Chr20:37232385	RPN2		Congenital disorder of glycosylation	Benign (Jul 30, 2022)	criteria provided, single submitter
Select item 116450168.	NM_002951.5(RPN2):c.1372G>T (p.Val458Leu) GRCh37: Chr20:35857025 GRCh38: Chr20:37228622	RPN2	V301L, V426L, V458L, V474L	Congenital disorder of glycosylation	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 115656069.	NM_002951.5(RPN2):c.1398T>G (p.Ser466=) GRCh37: Chr20:35857051 GRCh38: Chr20:37228648	RPN2		Congenital disorder of glycosylation	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 114863770.	NM_002951.5(RPN2):c.1677+20G>A GRCh37: Chr20:35860814 GRCh38: Chr20:37232411	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 14, 2020)	criteria provided, single submitter
Select item 114851071.	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT GRCh37: Chr20:35807790-35807791 GRCh38: Chr20:37179387-37179388	MROH8, RPN2	I40fs	Congenital disorder of glycosylation	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 114822772.	NM_002951.5(RPN2):c.99C>T (p.Asp33=) GRCh37: Chr20:35812668 GRCh38: Chr20:37184265	RPN2		Congenital disorder of glycosylation	Likely benign (Jul 30, 2020)	criteria provided, single submitter
Select item 114432973.	NM_002951.5(RPN2):c.1014C>T (p.Asn338=) GRCh37: Chr20:35842190 GRCh38: Chr20:37213787	RPN2		Congenital disorder of glycosylation	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 113934274.	NM_002951.5(RPN2):c.394C>T (p.Leu132=) GRCh37: Chr20:35827543 GRCh38: Chr20:37199140	RPN2		Congenital disorder of glycosylation	Likely benign (Feb 24, 2020)	criteria provided, single submitter
Select item 113542475.	NM_002951.5(RPN2):c.321G>A (p.Glu107=) GRCh37: Chr20:35827470 GRCh38: Chr20:37199067	RPN2		Congenital disorder of glycosylation	Likely benign (Mar 4, 2019)	criteria provided, single submitter
Select item 113346076.	NM_002951.5(RPN2):c.840C>T (p.Ser280=) GRCh37: Chr20:35835825 GRCh38: Chr20:37207422	RPN2		Congenital disorder of glycosylation	Likely benign (Sep 20, 2019)	criteria provided, single submitter
Select item 111548277.	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCCGCGGCCGGCACTCTT GRCh37: Chr20:35807790-35807791 GRCh38: Chr20:37179387-37179388	MROH8, RPN2		Congenital disorder of glycosylation	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 110100578.	NM_002951.5(RPN2):c.1121G>A (p.Gly374Asp) GRCh37: Chr20:35852309 GRCh38: Chr20:37223906	RPN2	G217D, G342D, G374D, G390D	Congenital disorder of glycosylation, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109765879.	NM_002951.5(RPN2):c.1581+20T>G GRCh37: Chr20:35858482 GRCh38: Chr20:37230079	RPN2		Congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 109158080.	NM_002951.5(RPN2):c.981T>A (p.Pro327=) GRCh37: Chr20:35838563 GRCh38: Chr20:37210160	RPN2		Congenital disorder of glycosylation	Likely benign (Feb 25, 2020)	criteria provided, single submitter
Select item 108708981.	NM_002951.5(RPN2):c.1372G>A (p.Val458Met) GRCh37: Chr20:35857025 GRCh38: Chr20:37228622	RPN2	V301M, V426M, V458M, V474M	Congenital disorder of glycosylation	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 105552282.	NM_002951.5(RPN2):c.805G>A (p.Val269Met) GRCh37: Chr20:35835790 GRCh38: Chr20:37207387	RPN2	V112M, V237M, V269M, V285M	Congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 102631783.	NM_002951.5(RPN2):c.479C>T (p.Ala160Val) GRCh37: Chr20:35827628 GRCh38: Chr20:37199225	RPN2	A128V, A160V	Congenital disorder of glycosylation	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 102541184.	NM_002951.5(RPN2):c.244A>G (p.Ser82Gly) GRCh37: Chr20:35826836 GRCh38: Chr20:37198433	RPN2	S82G	Congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 102244085.	NM_002951.5(RPN2):c.119C>T (p.Ser40Leu) GRCh37: Chr20:35812688 GRCh38: Chr20:37184285	RPN2	S40L	Congenital disorder of glycosylation	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 101567286.	NM_002951.5(RPN2):c.395T>G (p.Leu132Arg) GRCh37: Chr20:35827544 GRCh38: Chr20:37199141	RPN2	L100R, L132R	Congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 101189087.	NM_002951.5(RPN2):c.1540G>A (p.Val514Ile) GRCh37: Chr20:35858421 GRCh38: Chr20:37230018	RPN2	V357I, V482I, V514I, V530I	Congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 99671388.	NM_001382.4(DPAGT1):c.116_117delinsAA (p.Ala39Glu) GRCh37: Chr11:118972249-118972250 GRCh38: Chr11:119101539-119101540	DPAGT1, LOC126861360	A39E	Congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 99671289.	NM_001382.4(DPAGT1):c.1117C>G (p.Pro373Ala) GRCh37: Chr11:118967896 GRCh38: Chr11:119097186	DPAGT1	P373A	Congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 99671090.	NM_001382.4(DPAGT1):c.2T>C (p.Met1Thr) GRCh37: Chr11:118972364 GRCh38: Chr11:119101654	DPAGT1, LOC126861360	M1T	Congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 99669391.	NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) GRCh37: Chr11:118971348 GRCh38: Chr11:119100638	DPAGT1	L163P	DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 99669292.	NM_001382.4(DPAGT1):c.419A>G (p.Tyr140Cys) GRCh37: Chr11:118971417 GRCh38: Chr11:119100707	DPAGT1	Y140C	Congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 99665193.	NM_001382.4(DPAGT1):c.1197T>A (p.Tyr399Ter) GRCh37: Chr11:118967738 GRCh38: Chr11:119097028	DPAGT1	Y399*	Congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 98223394.	NM_007107.5(SSR3):c.278_281del (p.Glu93fs) GRCh37: Chr3:156266772-156266775 GRCh38: Chr3:156548983-156548986	SSR3	E41fs, E93fs	Congenital disorder of glycosylation	Likely pathogenic	no assertion criteria provided
Select item 95326295.	NM_002951.5(RPN2):c.1033_1034delinsGG (p.Tyr345Gly) GRCh37: Chr20:35842209-35842210 GRCh38: Chr20:37213806-37213807	RPN2	Y361G, Y188G, Y313G, Y345G	Congenital disorder of glycosylation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 91229796.	NM_006765.4(TUSC3):c.*566G>A GRCh37: Chr8:15622231 GRCh38: Chr8:15764722	TUSC3		Congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91229697.	NM_006765.4(TUSC3):c.*510C>A GRCh37: Chr8:15622175 GRCh38: Chr8:15764666	TUSC3		Congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91229598.	NM_006765.4(TUSC3):c.*499G>A GRCh37: Chr8:15622164 GRCh38: Chr8:15764655	TUSC3		Congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91229499.	NM_006765.4(TUSC3):c.*364G>C GRCh37: Chr8:15622029 GRCh38: Chr8:15764520	TUSC3		Congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 912293100.	NM_006765.4(TUSC3):c.*341A>G GRCh37: Chr8:15622006 GRCh38: Chr8:15764497	TUSC3		Congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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