ClinVar for MedGen (Select 862808) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26274561.	NM_015599.3(PGM3):c.985T>C (p.Tyr329His) GRCh37: Chr6:83888436 GRCh38: Chr6:83178717	PGM3	Y248H, Y329H, Y357H	Immunodeficiency 23	Uncertain significance	criteria provided, single submitter
Select item 24205852.	NM_015599.3(PGM3):c.122G>A (p.Arg41His) GRCh37: Chr6:83900610 GRCh38: Chr6:83190891	PGM3	R41H, R69H	Immunodeficiency 23	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 22011173.	NM_015599.3(PGM3):c.1129-16T>C GRCh37: Chr6:83884222 GRCh38: Chr6:83174503	PGM3		Immunodeficiency 23	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 21949324.	NM_015599.3(PGM3):c.1006C>T (p.Arg336Trp) GRCh37: Chr6:83888415 GRCh38: Chr6:83178696	PGM3	R255W, R336W, R364W	Immunodeficiency 23	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 21937215.	NM_015599.3(PGM3):c.616A>C (p.Arg206=) GRCh37: Chr6:83891626 GRCh38: Chr6:83181907	PGM3		Immunodeficiency 23	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 21917786.	NM_015599.3(PGM3):c.402G>C (p.Glu134Asp) GRCh37: Chr6:83896782 GRCh38: Chr6:83187063	PGM3	E162D, E134D, E53D	Immunodeficiency 23	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 21823817.	NM_015599.3(PGM3):c.1285A>G (p.Ile429Val) GRCh37: Chr6:83881736 GRCh38: Chr6:83172017	PGM3	I348V, I429V, I457V	Immunodeficiency 23	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 21668268.	NM_015599.3(PGM3):c.-2-17A>G GRCh37: Chr6:83900750 GRCh38: Chr6:83191031	PGM3		Immunodeficiency 23	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 21636039.	NM_015599.3(PGM3):c.806A>G (p.Asn269Ser) GRCh37: Chr6:83889668 GRCh38: Chr6:83179949	PGM3	N188S, N269S, N297S	Immunodeficiency 23	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 216195010.	NM_015599.3(PGM3):c.436G>T (p.Val146Phe) GRCh37: Chr6:83896748 GRCh38: Chr6:83187029	PGM3	V65F, V146F, V174F	Immunodeficiency 23	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 216180711.	NM_015599.3(PGM3):c.828T>C (p.Asp276=) GRCh37: Chr6:83889646 GRCh38: Chr6:83179927	PGM3		Immunodeficiency 23	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 215601312.	NM_015599.3(PGM3):c.330C>T (p.Ser110=) GRCh37: Chr6:83898392 GRCh38: Chr6:83188673	PGM3		Immunodeficiency 23	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 215162913.	NM_015599.3(PGM3):c.609T>G (p.Asp203Glu) GRCh37: Chr6:83891633 GRCh38: Chr6:83181914	PGM3	D122E, D231E, D203E	Immunodeficiency 23	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214956614.	NM_015599.3(PGM3):c.1544G>A (p.Ser515Asn) GRCh37: Chr6:83879038 GRCh38: Chr6:83169319	DOP1A, PGM3	S543N, S474N, S515N	Immunodeficiency 23	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 214674215.	NM_015599.3(PGM3):c.458-11T>G GRCh37: Chr6:83892708 GRCh38: Chr6:83182989	PGM3		Immunodeficiency 23	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 213550216.	NM_015599.3(PGM3):c.421A>G (p.Ile141Val) GRCh37: Chr6:83896763 GRCh38: Chr6:83187044	PGM3	I169V, I141V, I60V	Immunodeficiency 23	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 213539617.	NM_015599.3(PGM3):c.451T>C (p.Phe151Leu) GRCh37: Chr6:83896733 GRCh38: Chr6:83187014	PGM3	F179L, F70L, F151L	Immunodeficiency 23	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213066918.	NM_015599.3(PGM3):c.458-9C>A GRCh37: Chr6:83892706 GRCh38: Chr6:83182987	PGM3		Immunodeficiency 23	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 212997219.	NM_015599.3(PGM3):c.1539+4A>G GRCh37: Chr6:83880020 GRCh38: Chr6:83170301	DOP1A, PGM3	R434G	Immunodeficiency 23	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 212750820.	NM_015599.3(PGM3):c.64C>G (p.Gln22Glu) GRCh37: Chr6:83900668 GRCh38: Chr6:83190949	PGM3	Q50E, Q22E	Immunodeficiency 23	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 212207921.	NM_015599.3(PGM3):c.567G>A (p.Lys189=) GRCh37: Chr6:83892588 GRCh38: Chr6:83182869	PGM3		Immunodeficiency 23	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 211723522.	NM_015599.3(PGM3):c.409T>C (p.Ser137Pro) GRCh37: Chr6:83896775 GRCh38: Chr6:83187056	PGM3	S137P, S56P, S165P	Immunodeficiency 23	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 211516423.	NM_015599.3(PGM3):c.239G>A (p.Gly80Asp) GRCh37: Chr6:83898483 GRCh38: Chr6:83188764	PGM3	G80D, G108D	Immunodeficiency 23	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 211259724.	NM_015599.3(PGM3):c.1365+5G>C GRCh37: Chr6:83881651 GRCh38: Chr6:83171932	PGM3		Immunodeficiency 23	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 210543725.	NM_015599.3(PGM3):c.197A>C (p.Asn66Thr) GRCh37: Chr6:83900535 GRCh38: Chr6:83190816	PGM3	N94T, N66T	Immunodeficiency 23	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210530726.	NM_015599.3(PGM3):c.809A>G (p.Glu270Gly) GRCh37: Chr6:83889665 GRCh38: Chr6:83179946	PGM3	E270G, E298G, E189G	Immunodeficiency 23	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 210492227.	NM_015599.3(PGM3):c.1224T>G (p.Ile408Met) GRCh37: Chr6:83884111 GRCh38: Chr6:83174392	PGM3	I436M, I408M, I327M	Immunodeficiency 23	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 209675628.	NM_015599.3(PGM3):c.1104T>G (p.Tyr368Ter) GRCh37: Chr6:83885705 GRCh38: Chr6:83175986	PGM3	Y287, Y396, Y368*	Immunodeficiency 23	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 209249929.	NM_015599.3(PGM3):c.322G>C (p.Asp108His) GRCh37: Chr6:83898400 GRCh38: Chr6:83188681	PGM3	D108H, D27H, D136H	Immunodeficiency 23	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 207219830.	NM_015599.3(PGM3):c.1381G>C (p.Val461Leu) GRCh37: Chr6:83880182 GRCh38: Chr6:83170463	DOP1A, PGM3	V420L, V380L, V461L, V489L	Immunodeficiency 23, Inborn genetic diseases	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206645431.	NM_015599.3(PGM3):c.1626C>A (p.Phe542Leu) GRCh37: Chr6:83878956 GRCh38: Chr6:83169237	DOP1A, PGM3	F542L, F570L, F501L	Immunodeficiency 23	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 206497932.	NM_015599.3(PGM3):c.179T>C (p.Met60Thr) GRCh37: Chr6:83900553 GRCh38: Chr6:83190834	PGM3	M88T, M60T	Immunodeficiency 23	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 206465833.	NM_015599.3(PGM3):c.1435G>C (p.Glu479Gln) GRCh37: Chr6:83880128 GRCh38: Chr6:83170409	DOP1A, PGM3	E438Q, E398Q, E507Q, E479Q	Immunodeficiency 23	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 205299934.	NM_015599.3(PGM3):c.168T>G (p.Thr56=) GRCh37: Chr6:83900564 GRCh38: Chr6:83190845	PGM3		Immunodeficiency 23	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 205213135.	NM_015599.3(PGM3):c.563C>G (p.Ser188Cys) GRCh37: Chr6:83892592 GRCh38: Chr6:83182873	PGM3	S107C, S188C, S216C	Immunodeficiency 23	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 204891036.	NM_015599.3(PGM3):c.1030-13G>A GRCh37: Chr6:83885792 GRCh38: Chr6:83176073	PGM3		Immunodeficiency 23	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 204450137.	NM_015599.3(PGM3):c.106G>C (p.Asp36His) GRCh37: Chr6:83900626 GRCh38: Chr6:83190907	PGM3	D36H, D64H	Immunodeficiency 23	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 204125538.	NM_015599.3(PGM3):c.970G>A (p.Val324Ile) GRCh37: Chr6:83888451 GRCh38: Chr6:83178732	PGM3	V243I, V324I, V352I	Immunodeficiency 23	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 203899839.	NM_015599.3(PGM3):c.1051A>T (p.Thr351Ser) GRCh37: Chr6:83885758 GRCh38: Chr6:83176039	PGM3	T270S, T351S, T379S	Immunodeficiency 23	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 203623140.	NM_015599.3(PGM3):c.1243-9C>T GRCh37: Chr6:83881787 GRCh38: Chr6:83172068	PGM3		Immunodeficiency 23	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203318341.	NM_015599.3(PGM3):c.457+18G>C GRCh37: Chr6:83896709 GRCh38: Chr6:83186990	PGM3		Immunodeficiency 23	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 203272842.	NM_015599.3(PGM3):c.172G>C (p.Gly58Arg) GRCh37: Chr6:83900560 GRCh38: Chr6:83190841	PGM3	G86R, G58R	Immunodeficiency 23	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 202617643.	NM_015599.3(PGM3):c.1128+10_1128+12del GRCh37: Chr6:83885669-83885671 GRCh38: Chr6:83175950-83175952	PGM3		Immunodeficiency 23	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202286744.	NM_015599.3(PGM3):c.1146T>C (p.Ala382=) GRCh37: Chr6:83884189 GRCh38: Chr6:83174470	PGM3		Immunodeficiency 23	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 202184545.	NM_015599.3(PGM3):c.458-9C>T GRCh37: Chr6:83892706 GRCh38: Chr6:83182987	PGM3		Immunodeficiency 23	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201942046.	NM_015599.3(PGM3):c.1128+1G>A GRCh37: Chr6:83885680 GRCh38: Chr6:83175961	PGM3		Immunodeficiency 23	Likely pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 201874347.	NM_015599.3(PGM3):c.1104T>C (p.Tyr368=) GRCh37: Chr6:83885705 GRCh38: Chr6:83175986	PGM3		Immunodeficiency 23	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 200742648.	NM_015599.3(PGM3):c.591+8G>A GRCh37: Chr6:83892556 GRCh38: Chr6:83182837	PGM3		Immunodeficiency 23	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 200376349.	NM_015599.3(PGM3):c.204+9T>G GRCh37: Chr6:83900519 GRCh38: Chr6:83190800	PGM3		Immunodeficiency 23	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 200340250.	NM_015599.3(PGM3):c.558A>T (p.Lys186Asn) GRCh37: Chr6:83892597 GRCh38: Chr6:83182878	PGM3	K105N, K186N, K214N	Immunodeficiency 23	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 200180451.	NM_015599.3(PGM3):c.1121A>G (p.His374Arg) GRCh37: Chr6:83885688 GRCh38: Chr6:83175969	PGM3	H293R, H374R, H402R	Immunodeficiency 23	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 199851352.	NM_015599.3(PGM3):c.1030G>T (p.Val344Leu) GRCh37: Chr6:83885779 GRCh38: Chr6:83176060	PGM3	V344L, V263L, V372L	Immunodeficiency 23	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199850053.	NM_015599.3(PGM3):c.1289T>G (p.Leu430Trp) GRCh37: Chr6:83881732 GRCh38: Chr6:83172013	PGM3	L430W, L458W, L349W	Immunodeficiency 23	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199458654.	NM_015599.3(PGM3):c.592-5T>C GRCh37: Chr6:83891655 GRCh38: Chr6:83181936	PGM3		Immunodeficiency 23	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 199199455.	NM_015599.3(PGM3):c.591+13T>C GRCh37: Chr6:83892551 GRCh38: Chr6:83182832	PGM3		Immunodeficiency 23	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 198802856.	NM_015599.3(PGM3):c.-2-164A>G GRCh37: Chr6:83900897 GRCh38: Chr6:83191178	PGM3		Immunodeficiency 23	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 198758257.	NM_015599.3(PGM3):c.1242+20T>C GRCh37: Chr6:83884073 GRCh38: Chr6:83174354	PGM3		Immunodeficiency 23	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 198741258.	NM_015599.3(PGM3):c.1188T>A (p.Asp396Glu) GRCh37: Chr6:83884147 GRCh38: Chr6:83174428	PGM3	D396E, D315E, D424E	Immunodeficiency 23	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 198653059.	NM_015599.3(PGM3):c.389+6G>A GRCh37: Chr6:83898327 GRCh38: Chr6:83188608	PGM3		Immunodeficiency 23	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 198346860.	NM_015599.3(PGM3):c.1614C>G (p.Pro538=) GRCh37: Chr6:83878968 GRCh38: Chr6:83169249	DOP1A, PGM3		Immunodeficiency 23	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 198244261.	NM_015599.3(PGM3):c.783A>G (p.Pro261=) GRCh37: Chr6:83891459 GRCh38: Chr6:83181740	PGM3		Immunodeficiency 23	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 197744862.	NM_015599.3(PGM3):c.696G>A (p.Leu232=) GRCh37: Chr6:83891546 GRCh38: Chr6:83181827	PGM3		Immunodeficiency 23	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 197576263.	NM_015599.3(PGM3):c.389+11G>C GRCh37: Chr6:83898322 GRCh38: Chr6:83188603	PGM3		Immunodeficiency 23	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 194399264.	NM_015599.3(PGM3):c.945+8G>C GRCh37: Chr6:83889521 GRCh38: Chr6:83179802	PGM3		Immunodeficiency 23	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 194076565.	NM_015599.3(PGM3):c.1277T>C (p.Ile426Thr) GRCh37: Chr6:83881744 GRCh38: Chr6:83172025	PGM3	I454T, I345T, I426T	Immunodeficiency 23	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 193492566.	NM_015599.3(PGM3):c.1243-14T>G GRCh37: Chr6:83881792 GRCh38: Chr6:83172073	PGM3		Immunodeficiency 23	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 193154067.	NM_015599.3(PGM3):c.457+19T>C GRCh37: Chr6:83896708 GRCh38: Chr6:83186989	PGM3		Immunodeficiency 23	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 192938768.	NM_015599.3(PGM3):c.1432C>T (p.Gln478Ter) GRCh37: Chr6:83880131 GRCh38: Chr6:83170412	DOP1A, PGM3	Q506, Q397, Q437, Q478	Immunodeficiency 23	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 192617169.	NM_015599.3(PGM3):c.286A>G (p.Asn96Asp) GRCh37: Chr6:83898436 GRCh38: Chr6:83188717	PGM3	N124D, N96D, N15D	Immunodeficiency 23	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 192610770.	NM_015599.3(PGM3):c.1374C>T (p.Asp458=) GRCh37: Chr6:83880189 GRCh38: Chr6:83170470	DOP1A, PGM3		Immunodeficiency 23	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 191898671.	NM_015599.3(PGM3):c.946-23_946-19del GRCh37: Chr6:83888494-83888498 GRCh38: Chr6:83178775-83178779	PGM3		Immunodeficiency 23	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 191393172.	NM_015599.3(PGM3):c.787+17C>T GRCh37: Chr6:83891438 GRCh38: Chr6:83181719	PGM3		Immunodeficiency 23	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 191241573.	NM_015599.3(PGM3):c.-2-194C>G GRCh37: Chr6:83900927 GRCh38: Chr6:83191208	PGM3	Q21E	Immunodeficiency 23	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 191211074.	NM_015599.3(PGM3):c.-2-195C>G GRCh37: Chr6:83900928 GRCh38: Chr6:83191209	PGM3	Y20*	Immunodeficiency 23	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 190551575.	NM_015599.3(PGM3):c.389+19_389+21delinsTTG GRCh37: Chr6:83898312-83898314 GRCh38: Chr6:83188593-83188595	PGM3		Immunodeficiency 23	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 190000076.	NM_015599.3(PGM3):c.-2-218G>A GRCh37: Chr6:83900951 GRCh38: Chr6:83191232	PGM3	E13K	Immunodeficiency 23	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 171787977.	NM_015599.3(PGM3):c.431T>C (p.Val144Ala) GRCh37: Chr6:83896753 GRCh38: Chr6:83187034	PGM3	V144A, V172A, V63A	Immunodeficiency 23	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 171754478.	NM_015599.3(PGM3):c.680A>G (p.Tyr227Cys) GRCh37: Chr6:83891562 GRCh38: Chr6:83181843	PGM3	Y146C, Y227C, Y255C	Immunodeficiency 23	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171683579.	NM_015599.3(PGM3):c.592G>A (p.Ala198Thr) GRCh37: Chr6:83891650 GRCh38: Chr6:83181931	PGM3	A117T, A198T, A226T	Immunodeficiency 23	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 171595980.	NM_015599.3(PGM3):c.544G>A (p.Gly182Ser) GRCh37: Chr6:83892611 GRCh38: Chr6:83182892	PGM3	G101S, G182S, G210S	Immunodeficiency 23	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 171397881.	NM_015599.3(PGM3):c.-2-233T>G GRCh37: Chr6:83900966 GRCh38: Chr6:83191247	PGM3	S8A	Immunodeficiency 23	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 167498182.	NM_015599.3(PGM3):c.945+9G>C GRCh37: Chr6:83889520 GRCh38: Chr6:83179801	PGM3		Immunodeficiency 23	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 167148383.	NM_015599.3(PGM3):c.787+20C>T GRCh37: Chr6:83891435 GRCh38: Chr6:83181716	PGM3		Immunodeficiency 23	Likely benign (Oct 22, 2021)	criteria provided, single submitter
Select item 166911284.	NM_015599.3(PGM3):c.51T>C (p.Asn17=) GRCh37: Chr6:83900681 GRCh38: Chr6:83190962	PGM3		Immunodeficiency 23	Likely benign (Feb 15, 2022)	criteria provided, single submitter
Select item 166822185.	NM_015599.3(PGM3):c.-2-180T>C GRCh37: Chr6:83900913 GRCh38: Chr6:83191194	PGM3		Immunodeficiency 23	Likely benign (Jan 1, 2021)	criteria provided, single submitter
Select item 166336886.	NM_015599.3(PGM3):c.1243-7T>C GRCh37: Chr6:83881785 GRCh38: Chr6:83172066	PGM3		Immunodeficiency 23	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 166040087.	NM_015599.3(PGM3):c.897C>T (p.Asp299=) GRCh37: Chr6:83889577 GRCh38: Chr6:83179858	PGM3		Immunodeficiency 23	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 165814288.	NM_015599.3(PGM3):c.946-7del GRCh37: Chr6:83888482 GRCh38: Chr6:83178763	PGM3		Immunodeficiency 23	Benign (Jun 5, 2022)	criteria provided, single submitter
Select item 164907789.	NM_015599.3(PGM3):c.15T>C (p.Ala5=) GRCh37: Chr6:83900717 GRCh38: Chr6:83190998	PGM3		Immunodeficiency 23	Likely benign (Dec 3, 2020)	criteria provided, single submitter
Select item 164635290.	NM_015599.3(PGM3):c.591+19A>G GRCh37: Chr6:83892545 GRCh38: Chr6:83182826	PGM3		Immunodeficiency 23	Likely benign (May 6, 2021)	criteria provided, single submitter
Select item 163949191.	NM_015599.3(PGM3):c.1029+15T>C GRCh37: Chr6:83888377 GRCh38: Chr6:83178658	PGM3		Immunodeficiency 23	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 163659092.	NM_015599.3(PGM3):c.1294C>T (p.Leu432=) GRCh37: Chr6:83881727 GRCh38: Chr6:83172008	PGM3		Immunodeficiency 23	Likely benign (Feb 26, 2021)	criteria provided, single submitter
Select item 162255693.	NM_015599.3(PGM3):c.918C>T (p.Ser306=) GRCh37: Chr6:83889556 GRCh38: Chr6:83179837	PGM3		Immunodeficiency 23	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 161243294.	NM_015599.3(PGM3):c.426T>C (p.Asp142=) GRCh37: Chr6:83896758 GRCh38: Chr6:83187039	PGM3		Immunodeficiency 23	Likely benign (Oct 22, 2021)	criteria provided, single submitter
Select item 161187395.	NM_015599.3(PGM3):c.946-9T>C GRCh37: Chr6:83888484 GRCh38: Chr6:83178765	PGM3		Immunodeficiency 23	Likely benign (Oct 20, 2021)	criteria provided, single submitter
Select item 160893096.	NM_015599.3(PGM3):c.990A>G (p.Ala330=) GRCh37: Chr6:83888431 GRCh38: Chr6:83178712	PGM3		Immunodeficiency 23	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 160509197.	NM_015599.3(PGM3):c.389+20G>T GRCh37: Chr6:83898313 GRCh38: Chr6:83188594	PGM3		Immunodeficiency 23	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 159106598.	NM_015599.3(PGM3):c.585C>T (p.Thr195=) GRCh37: Chr6:83892570 GRCh38: Chr6:83182851	PGM3		Immunodeficiency 23	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 158928799.	NM_015599.3(PGM3):c.1128+18T>C GRCh37: Chr6:83885663 GRCh38: Chr6:83175944	PGM3		Immunodeficiency 23	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 1583927100.	NM_015599.3(PGM3):c.1353A>G (p.Gln451=) GRCh37: Chr6:83881668 GRCh38: Chr6:83171949	PGM3		Immunodeficiency 23	Likely benign (May 29, 2021)	criteria provided, single submitter

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