ClinVar for MedGen (Select 120613) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24346721.	NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro) GRCh37: Chr7:44104541 GRCh38: Chr7:44064942	DBNL, PGAM2	R162P	Glycogen storage disease type X	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 24346712.	NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys) GRCh37: Chr7:44104747 GRCh38: Chr7:44065148	DBNL, PGAM2	E128K	Glycogen storage disease type X	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 24278823.	NM_001014436.3(DBNL):c.*2022G>A GRCh37: Chr7:44102537 GRCh38: Chr7:44062938	PGAM2, DBNL		Glycogen storage disease type X	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 24228214.	NC_000007.13:g.(?_44102363)_(44105128_?)dup GRCh37: Chr7:44102363-44105128	PGAM2		Glycogen storage disease type X	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 24228205.	NC_000007.13:g.(?_44102363)_(44105128_?)del GRCh37: Chr7:44102363-44105128	PGAM2		Glycogen storage disease type X	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 24150076.	NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp) GRCh37: Chr7:44104595 GRCh38: Chr7:44064996	PGAM2, DBNL	G144D	Glycogen storage disease type X	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 23215427.	NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu) GRCh37: Chr7:44104761 GRCh38: Chr7:44065162	PGAM2, DBNL	P123L	Glycogen storage disease type X, Inborn genetic diseases	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21949408.	NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln) GRCh37: Chr7:44104604 GRCh38: Chr7:44065005	PGAM2, DBNL	R141Q	Glycogen storage disease type X	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 21940029.	NM_000290.4(PGAM2):c.342C>T (p.Ile114=) GRCh37: Chr7:44104787 GRCh38: Chr7:44065188	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219189510.	NM_001014436.3(DBNL):c.*2031A>G GRCh37: Chr7:44102546 GRCh38: Chr7:44062947	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 218487411.	NM_000290.4(PGAM2):c.720G>C (p.Arg240=) GRCh37: Chr7:44102405 GRCh38: Chr7:44062806	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 218483712.	NM_000290.4(PGAM2):c.14G>A (p.Arg5His) GRCh37: Chr7:44105115 GRCh38: Chr7:44065516	PGAM2, DBNL	R5H	Glycogen storage disease type X, not provided	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218436913.	NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys) GRCh37: Chr7:44104521 GRCh38: Chr7:44064922	PGAM2, DBNL	E169K	Glycogen storage disease type X	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 218244714.	NM_000290.4(PGAM2):c.441C>T (p.Pro147=) GRCh37: Chr7:44104585 GRCh38: Chr7:44064986	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 217981615.	NM_000290.4(PGAM2):c.170C>T (p.Thr57Met) GRCh37: Chr7:44104959 GRCh38: Chr7:44065360	PGAM2, DBNL	T57M	Glycogen storage disease type X	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 217372016.	NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser) GRCh37: Chr7:44105059 GRCh38: Chr7:44065460	DBNL, PGAM2	G24S	Glycogen storage disease type X	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 217339417.	NM_000290.4(PGAM2):c.419G>A (p.Arg140His) GRCh37: Chr7:44104607 GRCh38: Chr7:44065008	PGAM2, DBNL	R140H	Glycogen storage disease type X	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 216832718.	NM_000290.4(PGAM2):c.221C>T (p.Thr74Met) GRCh37: Chr7:44104908 GRCh38: Chr7:44065309	DBNL, PGAM2	T74M	Glycogen storage disease type X	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216101419.	NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu) GRCh37: Chr7:44104993 GRCh38: Chr7:44065394	PGAM2, DBNL	K46E	Glycogen storage disease type X	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 216093720.	NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser) GRCh37: Chr7:44104878 GRCh38: Chr7:44065279	PGAM2, DBNL	T84S	Glycogen storage disease type X	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 216062921.	NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys) GRCh37: Chr7:44104936 GRCh38: Chr7:44065337	PGAM2, DBNL	R65C	Glycogen storage disease type X	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 215809522.	NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser) GRCh37: Chr7:44104974 GRCh38: Chr7:44065375	PGAM2, DBNL	F52S	Glycogen storage disease type X	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 214651523.	NM_001014436.3(DBNL):c.*3913C>A GRCh37: Chr7:44104428 GRCh38: Chr7:44064829	DBNL, PGAM2		Glycogen storage disease type X	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 214518124.	NM_000290.4(PGAM2):c.369G>A (p.Pro123=) GRCh37: Chr7:44104760 GRCh38: Chr7:44065161	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 214301525.	NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys) GRCh37: Chr7:44105116 GRCh38: Chr7:44065517	PGAM2, DBNL	R5C	Glycogen storage disease type X	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 214095826.	NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln) GRCh37: Chr7:44104541 GRCh38: Chr7:44064942	PGAM2, DBNL	R162Q	Inborn genetic diseases, Glycogen storage disease type X	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214072727.	NM_001014436.3(DBNL):c.*4191G>A GRCh37: Chr7:44104706 GRCh38: Chr7:44065107	PGAM2, DBNL		Glycogen storage disease type X	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 213650428.	NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln) GRCh37: Chr7:44105100 GRCh38: Chr7:44065501	PGAM2, DBNL	R10Q	Glycogen storage disease type X	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 213650329.	NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys) GRCh37: Chr7:44104566 GRCh38: Chr7:44064967	PGAM2, DBNL	E154K	Glycogen storage disease type X	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 213650230.	NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter) GRCh37: Chr7:44104488 GRCh38: Chr7:44064889	PGAM2, DBNL	R180*	Glycogen storage disease type X	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 210146831.	NM_000290.4(PGAM2):c.125C>T (p.Ala42Val) GRCh37: Chr7:44105004 GRCh38: Chr7:44065405	PGAM2, DBNL	A42V	Glycogen storage disease type X	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 207613732.	NM_000290.4(PGAM2):c.257G>A (p.Arg86His) GRCh37: Chr7:44104872 GRCh38: Chr7:44065273	DBNL, PGAM2	R86H	Glycogen storage disease type X	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 206916833.	NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln) GRCh37: Chr7:44102452 GRCh38: Chr7:44062853	PGAM2, DBNL	K225Q	Glycogen storage disease type X	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 206881634.	NM_000290.4(PGAM2):c.222G>A (p.Thr74=) GRCh37: Chr7:44104907 GRCh38: Chr7:44065308	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 206041435.	NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp) GRCh37: Chr7:44105101 GRCh38: Chr7:44065502	PGAM2, DBNL	R10W	Glycogen storage disease type X	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 205916636.	NM_000290.4(PGAM2):c.713C>T (p.Thr238Met) GRCh37: Chr7:44102412 GRCh38: Chr7:44062813	DBNL, PGAM2	T238M	Glycogen storage disease type X	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 205769237.	NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys) GRCh37: Chr7:44105023 GRCh38: Chr7:44065424	DBNL, PGAM2	E36K	Glycogen storage disease type X	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 205520838.	NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter) GRCh37: Chr7:44104895 GRCh38: Chr7:44065296	DBNL, PGAM2	W78*	Glycogen storage disease type X	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 205299439.	NM_000290.4(PGAM2):c.350G>A (p.Arg117His) GRCh37: Chr7:44104779 GRCh38: Chr7:44065180	PGAM2, DBNL	R117H	Glycogen storage disease type X	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 204294640.	NM_000290.4(PGAM2):c.558C>T (p.His186=) GRCh37: Chr7:44104468 GRCh38: Chr7:44064869	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 203070041.	NM_000290.4(PGAM2):c.160del (p.Ile54fs) GRCh37: Chr7:44104969 GRCh38: Chr7:44065370	DBNL, PGAM2	I54fs	Glycogen storage disease type X	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 202932642.	NM_000290.4(PGAM2):c.15C>T (p.Arg5=) GRCh37: Chr7:44105114 GRCh38: Chr7:44065515	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 201522343.	NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn) GRCh37: Chr7:44104878 GRCh38: Chr7:44065279	PGAM2, DBNL	T84N	Glycogen storage disease type X	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 201071944.	NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg) GRCh37: Chr7:44105036 GRCh38: Chr7:44065437	PGAM2, DBNL	S31R	Glycogen storage disease type X	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 198730245.	NM_000290.4(PGAM2):c.309G>A (p.Thr103=) GRCh37: Chr7:44104820 GRCh38: Chr7:44065221	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 198457246.	NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr) GRCh37: Chr7:44104968 GRCh38: Chr7:44065369	PGAM2, DBNL	I54T	Glycogen storage disease type X	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 198327847.	NM_000290.4(PGAM2):c.504C>T (p.Asn168=) GRCh37: Chr7:44104522 GRCh38: Chr7:44064923	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Nov 12, 2020)	criteria provided, single submitter
Select item 198237848.	NM_001014436.3(DBNL):c.*4100G>A GRCh37: Chr7:44104615 GRCh38: Chr7:44065016	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 198214949.	NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys) GRCh37: Chr7:44105078 GRCh38: Chr7:44065479	DBNL, PGAM2	N17K	Glycogen storage disease type X	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 198043450.	NM_000290.4(PGAM2):c.183G>A (p.Lys61=) GRCh37: Chr7:44104946 GRCh38: Chr7:44065347	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 197930651.	NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr) GRCh37: Chr7:44105070 GRCh38: Chr7:44065471	PGAM2, DBNL	N20T	Glycogen storage disease type X	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 193656152.	NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys) GRCh37: Chr7:44104525 GRCh38: Chr7:44064926	PGAM2, DBNL	W167C	Glycogen storage disease type X	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 193630453.	NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys) GRCh37: Chr7:44104882 GRCh38: Chr7:44065283	DBNL, PGAM2	R83C	Glycogen storage disease type X	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 192660854.	NM_001014436.3(DBNL):c.*3899C>T GRCh37: Chr7:44104414 GRCh38: Chr7:44064815	PGAM2, DBNL		Glycogen storage disease type X	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 190948755.	NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp) GRCh37: Chr7:44104431 GRCh38: Chr7:44064832	DBNL, PGAM2	G199W	Glycogen storage disease type X	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 190390856.	NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly) GRCh37: Chr7:44104770 GRCh38: Chr7:44065171	DBNL, PGAM2	D120G	Glycogen storage disease type X	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 189702257.	NM_000290.4(PGAM2):c.714G>A (p.Thr238=) GRCh37: Chr7:44102411 GRCh38: Chr7:44062812	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 166945058.	NM_000290.4(PGAM2):c.489C>T (p.Ala163=) GRCh37: Chr7:44104537 GRCh38: Chr7:44064938	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 160223659.	NM_000290.4(PGAM2):c.363C>T (p.Ile121=) GRCh37: Chr7:44104766 GRCh38: Chr7:44065167	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 159353760.	NM_000290.4(PGAM2):c.381C>T (p.Asp127=) GRCh37: Chr7:44104748 GRCh38: Chr7:44065149	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Aug 2, 2021)	criteria provided, single submitter
Select item 157850761.	NM_001014436.3(DBNL):c.*4101G>A GRCh37: Chr7:44104616 GRCh38: Chr7:44065017	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 154938862.	NM_001014436.3(DBNL):c.*3905G>A GRCh37: Chr7:44104420 GRCh38: Chr7:44064821	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 142488163.	NM_001014436.3(DBNL):c.*2021C>T GRCh37: Chr7:44102536 GRCh38: Chr7:44062937	DBNL, PGAM2		Glycogen storage disease type X	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 142116264.	NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys) GRCh37: Chr7:44105092 GRCh38: Chr7:44065493	DBNL, PGAM2	E13K	Glycogen storage disease type X	Uncertain significance (Aug 22, 2021)	criteria provided, single submitter
Select item 139256165.	NM_000290.4(PGAM2):c.16C>G (p.Leu6Val) GRCh37: Chr7:44105113 GRCh38: Chr7:44065514	DBNL, PGAM2	L6V	Glycogen storage disease type X	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 138088466.	NM_000290.4(PGAM2):c.515T>G (p.Val172Gly) GRCh37: Chr7:44104511 GRCh38: Chr7:44064912	DBNL, PGAM2	V172G	Glycogen storage disease type X	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 138022767.	NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser) GRCh37: Chr7:44104494 GRCh38: Chr7:44064895	DBNL, PGAM2	G178S	Glycogen storage disease type X	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 137019168.	NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg) GRCh37: Chr7:44104761 GRCh38: Chr7:44065162	DBNL, PGAM2	P123R	Glycogen storage disease type X	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 112565769.	NM_000290.4(PGAM2):c.276C>T (p.Tyr92=) GRCh37: Chr7:44104853 GRCh38: Chr7:44065254	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 108109270.	NM_000290.4(PGAM2):c.90G>A (p.Leu30=) GRCh37: Chr7:44105039 GRCh38: Chr7:44065440	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Jan 20, 2022)	criteria provided, single submitter
Select item 107323771.	NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter) GRCh37: Chr7:44104798 GRCh38: Chr7:44065199	PGAM2, DBNL	Q111*	Glycogen storage disease type X	Pathogenic (Jan 10, 2020)	criteria provided, single submitter
Select item 106060872.	NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp) GRCh37: Chr7:44102370 GRCh38: Chr7:44062771	DBNL, PGAM2	A252D	Glycogen storage disease type X	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 105976573.	NM_001014436.3(DBNL):c.*4194G>A GRCh37: Chr7:44104709 GRCh38: Chr7:44065110	DBNL, PGAM2		Glycogen storage disease type X	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 105877974.	NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro) GRCh37: Chr7:44104481 GRCh38: Chr7:44064882	DBNL, PGAM2	L182P	Glycogen storage disease type X	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 101522375.	NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln) GRCh37: Chr7:44102406 GRCh38: Chr7:44062807	DBNL, PGAM2	R240Q	Glycogen storage disease type X	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 100477676.	NM_000290.4(PGAM2):c.19G>A (p.Val7Met) GRCh37: Chr7:44105110 GRCh38: Chr7:44065511	DBNL, PGAM2	V7M	Inborn genetic diseases, Glycogen storage disease type X	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96696977.	NM_000290.4(PGAM2):c.194G>A (p.Arg65His) GRCh37: Chr7:44104935 GRCh38: Chr7:44065336	DBNL, PGAM2	R65H	Glycogen storage disease type X	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 95933378.	NM_000290.4(PGAM2):c.244G>A (p.Val82Met) GRCh37: Chr7:44104885 GRCh38: Chr7:44065286	DBNL, PGAM2	V82M	Glycogen storage disease type X	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 94750879.	NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu) GRCh37: Chr7:44104764 GRCh38: Chr7:44065165	PGAM2, DBNL	P122L	Glycogen storage disease type X	Uncertain significance (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94330180.	NM_000290.4(PGAM2):c.62G>A (p.Arg21His) GRCh37: Chr7:44105067 GRCh38: Chr7:44065468	DBNL, PGAM2	R21H	Glycogen storage disease type X	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 91138281.	NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) GRCh37: Chr7:44104571 GRCh38: Chr7:44064972	DBNL, PGAM2	T152I	Inborn genetic diseases, Glycogen storage disease type X	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 91138182.	NM_000290.4(PGAM2):c.480T>C (p.Ile160=) GRCh37: Chr7:44104546 GRCh38: Chr7:44064947	DBNL, PGAM2		Glycogen storage disease type X	Conflicting interpretations of pathogenicity (Jun 26, 2022)	criteria provided, conflicting interpretations
Select item 91138083.	NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys) GRCh37: Chr7:44104525 GRCh38: Chr7:44064926	DBNL, PGAM2	W167C	Inborn genetic diseases, not provided, Glycogen storage disease type X	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91137984.	NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) GRCh37: Chr7:44104515 GRCh38: Chr7:44064916	DBNL, PGAM2	I171L	Glycogen storage disease type X	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91137885.	NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp) GRCh37: Chr7:44104455 GRCh38: Chr7:44064856	DBNL, PGAM2	R191W	Inborn genetic diseases, Glycogen storage disease type X	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90925286.	NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln) GRCh37: Chr7:44105014 GRCh38: Chr7:44065415	DBNL, PGAM2	K39Q	Glycogen storage disease type X	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90840487.	NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg) GRCh37: Chr7:44104897 GRCh38: Chr7:44065298	DBNL, PGAM2	W78R	Glycogen storage disease type X	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90840388.	NM_000290.4(PGAM2):c.252T>C (p.Thr84=) GRCh37: Chr7:44104877 GRCh38: Chr7:44065278	PGAM2, DBNL		Glycogen storage disease type X	Conflicting interpretations of pathogenicity (Jun 2, 2022)	criteria provided, conflicting interpretations
Select item 85588089.	NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys) GRCh37: Chr7:44104873 GRCh38: Chr7:44065274	DBNL, PGAM2	R86C	Glycogen storage disease type X	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 85502690.	NM_000290.4(PGAM2):c.35_37del (p.Gly12del) GRCh37: Chr7:44105092-44105094 GRCh38: Chr7:44065493-44065495	DBNL, PGAM2	G12del	Glycogen storage disease type X	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 85276591.	NM_000290.4(PGAM2):c.576C>T (p.Gly192=) GRCh37: Chr7:44104450 GRCh38: Chr7:44064851	DBNL, PGAM2		Glycogen storage disease type X	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 85215692.	NM_000290.4(PGAM2):c.36C>T (p.Gly12=) GRCh37: Chr7:44105093 GRCh38: Chr7:44065494	DBNL, PGAM2		Glycogen storage disease type X	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 84774893.	NM_000290.4(PGAM2):c.143C>T (p.Ala48Val) GRCh37: Chr7:44104986 GRCh38: Chr7:44065387	DBNL, PGAM2	A48V	Glycogen storage disease type X	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 78678394.	NM_000290.4(PGAM2):c.636G>A (p.Thr212=) GRCh37: Chr7:44102489 GRCh38: Chr7:44062890	DBNL, PGAM2		Glycogen storage disease type X	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 66513695.	NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) GRCh37: Chr7:44102514 GRCh38: Chr7:44062915	DBNL, PGAM2	A204V	Glycogen storage disease type X	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 66311196.	NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) GRCh37: Chr7:44104755 GRCh38: Chr7:44065156	DBNL, PGAM2	P125L	Glycogen storage disease type X	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 58753097.	NM_000290.4(PGAM2):c.533del (p.Gly178fs) GRCh37: Chr7:44104493 GRCh38: Chr7:44064894	DBNL, PGAM2	G178fs	Glycogen storage disease type X, not provided	Likely pathogenic (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52922498.	NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) GRCh37: Chr7:44105010 GRCh38: Chr7:44065411	PGAM2, DBNL	R40Q	not provided, Glycogen storage disease type X	Conflicting interpretations of pathogenicity (Aug 20, 2022)	criteria provided, conflicting interpretations
Select item 51534399.	NM_000290.4(PGAM2):c.531C>G (p.Ala177=) GRCh37: Chr7:44104495 GRCh38: Chr7:44064896	DBNL, PGAM2		not specified, Glycogen storage disease type X	Likely benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 513506100.	NM_001014436.3(DBNL):c.*4099G>A GRCh37: Chr7:44104614 GRCh38: Chr7:44065015	DBNL, PGAM2		not provided, Glycogen storage disease type X	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations

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