ClinVar for MedGen (Select 335112) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24346961.	NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile) GRCh37: ChrX:71822969 GRCh38: ChrX:72603119	PHKA1	V914I, V973I	Glycogen storage disease IXd	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24315292.	NM_002637.4(PHKA1):c.219G>T (p.Lys73Asn) GRCh37: ChrX:71932639 GRCh38: ChrX:72712797	PHKA1	K73N	Glycogen storage disease IXd	Uncertain significance (Jan 6, 2023)	criteria provided, single submitter
Select item 24245073.	NC_000023.10:g.(?_71875950)_(71925114_?)dup GRCh37: ChrX:71875950-71925114	PHKA1		Glycogen storage disease IXd	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 24245064.	NC_000023.10:g.(?_71854985)_(71933728_?)dup GRCh37: ChrX:71854985-71933728	PHKA1		Glycogen storage disease IXd	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 24188675.	NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile) GRCh37: ChrX:71813107 GRCh38: ChrX:72593257	PHKA1	M1017I, M1030I, M958I	Glycogen storage disease IXd	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 24152096.	NM_002637.4(PHKA1):c.3366G>A (p.Glu1122=) GRCh37: ChrX:71802380 GRCh38: ChrX:72582530	PHKA1		Glycogen storage disease IXd	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 24141067.	NM_002637.4(PHKA1):c.381T>C (p.Asp127=) GRCh37: ChrX:71915631 GRCh38: ChrX:72695781	PHKA1, PHKA1-AS1		Glycogen storage disease IXd	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 22026888.	NM_002637.4(PHKA1):c.1459+19C>T GRCh37: ChrX:71864193 GRCh38: ChrX:72644343	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 22024109.	NM_002637.4(PHKA1):c.1137+13G>A GRCh37: ChrX:71873272 GRCh38: ChrX:72653422	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 220166110.	NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys) GRCh37: ChrX:71830943 GRCh38: ChrX:72611093	PHKA1	R821C, R762C	Glycogen storage disease IXd	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 220124611.	NM_002637.4(PHKA1):c.1657C>T (p.Arg553Cys) GRCh37: ChrX:71855062 GRCh38: ChrX:72635212	PHKA1	R553C	Glycogen storage disease IXd	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 219663812.	NM_002637.4(PHKA1):c.1245+20C>A GRCh37: ChrX:71872374 GRCh38: ChrX:72652524	PHKA1		Glycogen storage disease IXd	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 219455913.	NM_002637.4(PHKA1):c.3121T>C (p.Tyr1041His) GRCh37: ChrX:71813076 GRCh38: ChrX:72593226	PHKA1	Y1041H, Y1028H, Y969H	Glycogen storage disease IXd	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 218946114.	NM_002637.4(PHKA1):c.732A>C (p.Ser244=) GRCh37: ChrX:71886133 GRCh38: ChrX:72666283	PHKA1		Glycogen storage disease IXd	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 218928915.	NM_002637.4(PHKA1):c.384T>C (p.Asp128=) GRCh37: ChrX:71915628 GRCh38: ChrX:72695778	PHKA1, PHKA1-AS1		Glycogen storage disease IXd	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 218830916.	NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu) GRCh37: ChrX:71802390 GRCh38: ChrX:72582540	PHKA1	P1119L, P1047L, P1106L	Glycogen storage disease IXd	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218317017.	NM_002637.4(PHKA1):c.2007G>A (p.Ala669=) GRCh37: ChrX:71840705 GRCh38: ChrX:72620855	PHKA1		Glycogen storage disease IXd	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 218236918.	NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr) GRCh37: ChrX:71825156 GRCh38: ChrX:72605306	PHKA1	M868T, M927T	Glycogen storage disease IXd	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 218009219.	NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln) GRCh37: ChrX:71855055 GRCh38: ChrX:72635205	PHKA1	R555Q	Glycogen storage disease IXd	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217923720.	NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser) GRCh37: ChrX:71822996 GRCh38: ChrX:72603146	PHKA1	G905S, G964S	Glycogen storage disease IXd	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217922121.	NM_002637.4(PHKA1):c.1460-15T>C GRCh37: ChrX:71856251 GRCh38: ChrX:72636401	PHKA1		Glycogen storage disease IXd	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 217785622.	NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile) GRCh37: ChrX:71822103 GRCh38: ChrX:72602253	PHKA1	V921I, V980I	Glycogen storage disease IXd	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 217705923.	NM_002637.4(PHKA1):c.1460-15T>A GRCh37: ChrX:71856251 GRCh38: ChrX:72636401	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 217529824.	NM_002637.4(PHKA1):c.2230-18T>C GRCh37: ChrX:71838717 GRCh38: ChrX:72618867	PHKA1		Glycogen storage disease IXd	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 217105525.	NM_002637.4(PHKA1):c.3444C>A (p.Ile1148=) GRCh37: ChrX:71802302 GRCh38: ChrX:72582452	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 2, 2022)	criteria provided, single submitter
Select item 217047726.	NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn) GRCh37: ChrX:71839093 GRCh38: ChrX:72619243	PHKA1	D675N, D734N	Glycogen storage disease IXd	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 216855227.	NM_002637.4(PHKA1):c.1776G>T (p.Gly592=) GRCh37: ChrX:71846838 GRCh38: ChrX:72626988	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 216800728.	NM_002637.4(PHKA1):c.2138-16T>C GRCh37: ChrX:71839171 GRCh38: ChrX:72619321	PHKA1		Glycogen storage disease IXd	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 216761229.	NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp) GRCh37: ChrX:71822072 GRCh38: ChrX:72602222	PHKA1	G931D, G990D	Glycogen storage disease IXd	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 216711330.	NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr) GRCh37: ChrX:71840704 GRCh38: ChrX:72620854	PHKA1	H670Y	Glycogen storage disease IXd	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 216151231.	NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr) GRCh37: ChrX:71825453 GRCh38: ChrX:72605603	PHKA1	A875T, A816T	Glycogen storage disease IXd	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 216046332.	NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp) GRCh37: ChrX:71830890 GRCh38: ChrX:72611040	PHKA1	E838D, E779D	Glycogen storage disease IXd	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 215870933.	NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly) GRCh37: ChrX:71802307 GRCh38: ChrX:72582457	PHKA1	S1075G, S1147G, S1134G	Inborn genetic diseases, Glycogen storage disease IXd	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215615834.	NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr) GRCh37: ChrX:71800986 GRCh38: ChrX:72581136	PHKA1	P1167T, P1108T, P1180T	Glycogen storage disease IXd	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 215582435.	NM_002637.4(PHKA1):c.1726A>G (p.Thr576Ala) GRCh37: ChrX:71846888 GRCh38: ChrX:72627038	PHKA1	T576A	Glycogen storage disease IXd	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 215479036.	NM_002637.4(PHKA1):c.126T>C (p.Ala42=) GRCh37: ChrX:71932732 GRCh38: ChrX:72712890	PHKA1		Glycogen storage disease IXd	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 215478937.	NM_002637.4(PHKA1):c.1361T>C (p.Ile454Thr) GRCh37: ChrX:71864310 GRCh38: ChrX:72644460	PHKA1	I454T	Glycogen storage disease IXd	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 215283938.	NM_002637.4(PHKA1):c.1137+17C>T GRCh37: ChrX:71873268 GRCh38: ChrX:72653418	PHKA1		Glycogen storage disease IXd	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215075639.	NM_002637.4(PHKA1):c.1961-14C>G GRCh37: ChrX:71840765 GRCh38: ChrX:72620915	PHKA1		Glycogen storage disease IXd	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 215048740.	NM_002637.4(PHKA1):c.3223G>C (p.Val1075Leu) GRCh37: ChrX:71812974 GRCh38: ChrX:72593124	PHKA1	V1075L, V1003L, V1062L	Glycogen storage disease IXd	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 214877541.	NM_002637.4(PHKA1):c.743G>A (p.Arg248His) GRCh37: ChrX:71886122 GRCh38: ChrX:72666272	PHKA1	R248H	Glycogen storage disease IXd	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214651742.	NM_002637.4(PHKA1):c.3630C>T (p.Tyr1210=) GRCh37: ChrX:71800894 GRCh38: ChrX:72581044	PHKA1		Glycogen storage disease IXd	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 214616043.	NM_002637.4(PHKA1):c.3143A>G (p.Asp1048Gly) GRCh37: ChrX:71813054 GRCh38: ChrX:72593204	PHKA1	D976G, D1035G, D1048G	Glycogen storage disease IXd	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 214406444.	NM_002637.4(PHKA1):c.1041+19A>T GRCh37: ChrX:71875951 GRCh38: ChrX:72656101	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 214340945.	NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln) GRCh37: ChrX:71846854 GRCh38: ChrX:72627004	PHKA1	R587Q	Glycogen storage disease IXd	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 214102446.	NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys) GRCh37: ChrX:71822121 GRCh38: ChrX:72602271	PHKA1	R915C, R974C	Glycogen storage disease IXd	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 213922347.	NM_002637.4(PHKA1):c.1749G>C (p.Leu583=) GRCh37: ChrX:71846865 GRCh38: ChrX:72627015	PHKA1		Glycogen storage disease IXd	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 213291748.	NM_002637.4(PHKA1):c.484G>A (p.Val162Ile) GRCh37: ChrX:71904401 GRCh38: ChrX:72684551	PHKA1	V162I	Glycogen storage disease IXd	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212185949.	NM_002637.4(PHKA1):c.2613G>A (p.Leu871=) GRCh37: ChrX:71825463 GRCh38: ChrX:72605613	PHKA1		Glycogen storage disease IXd	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 210322350.	NM_002637.4(PHKA1):c.2229+15G>A GRCh37: ChrX:71839049 GRCh38: ChrX:72619199	PHKA1		Glycogen storage disease IXd	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 209470951.	NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly) GRCh37: ChrX:71830891 GRCh38: ChrX:72611041	PHKA1	E838G, E779G	Glycogen storage disease IXd	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 208574152.	NM_002637.4(PHKA1):c.237+16A>G GRCh37: ChrX:71932605 GRCh38: ChrX:72712763	PHKA1		Glycogen storage disease IXd	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 208340353.	NM_002637.4(PHKA1):c.2606+7A>G GRCh37: ChrX:71829467 GRCh38: ChrX:72609617	PHKA1		Glycogen storage disease IXd	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 208230754.	NM_002637.4(PHKA1):c.900A>G (p.Gly300=) GRCh37: ChrX:71877456 GRCh38: ChrX:72657606	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 208119555.	NM_002637.4(PHKA1):c.1057G>A (p.Glu353Lys) GRCh37: ChrX:71873365 GRCh38: ChrX:72653515	PHKA1	E353K	Glycogen storage disease IXd	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 207956356.	NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala) GRCh37: ChrX:71842973 GRCh38: ChrX:72623123	PHKA1	D649A	Glycogen storage disease IXd	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 207812257.	NM_002637.4(PHKA1):c.1623A>C (p.Glu541Asp) GRCh37: ChrX:71855096 GRCh38: ChrX:72635246	PHKA1	E541D	Glycogen storage disease IXd	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 207744858.	NM_002637.4(PHKA1):c.286-9T>C GRCh37: ChrX:71915735 GRCh38: ChrX:72695885	PHKA1, PHKA1-AS1		Glycogen storage disease IXd	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 207675059.	NM_002637.4(PHKA1):c.169T>C (p.Leu57=) GRCh37: ChrX:71932689 GRCh38: ChrX:72712847	PHKA1		Glycogen storage disease IXd	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 207578060.	NM_002637.4(PHKA1):c.2527-12A>G GRCh37: ChrX:71829565 GRCh38: ChrX:72609715	PHKA1		Glycogen storage disease IXd	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 207377661.	NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del) GRCh37: ChrX:71840606-71840611 GRCh38: ChrX:72620756-72620761	PHKA1		Glycogen storage disease IXd	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 207270762.	NM_002637.4(PHKA1):c.2391A>G (p.Glu797=) GRCh37: ChrX:71831013 GRCh38: ChrX:72611163	PHKA1		Glycogen storage disease IXd	Benign (Dec 19, 2021)	criteria provided, single submitter
Select item 207239063.	NM_002637.4(PHKA1):c.2365A>G (p.Met789Val) GRCh37: ChrX:71838564 GRCh38: ChrX:72618714	PHKA1	M789V, M730V	Glycogen storage disease IXd	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 207213264.	NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys) GRCh37: ChrX:71825458 GRCh38: ChrX:72605608	PHKA1	Y814C, Y873C	Glycogen storage disease IXd	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 206729565.	NM_002637.4(PHKA1):c.2370A>G (p.Lys790=) GRCh37: ChrX:71831034 GRCh38: ChrX:72611184	PHKA1		Glycogen storage disease IXd	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 206566466.	NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe) GRCh37: ChrX:71822076 GRCh38: ChrX:72602226	PHKA1	I989F, I930F	Glycogen storage disease IXd	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206407067.	NM_002637.4(PHKA1):c.723C>G (p.Ile241Met) GRCh37: ChrX:71886142 GRCh38: ChrX:72666292	PHKA1	I241M	Glycogen storage disease IXd	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 206401568.	NM_002637.4(PHKA1):c.1042-20T>G GRCh37: ChrX:71873400 GRCh38: ChrX:72653550	PHKA1		Glycogen storage disease IXd	Benign (Mar 10, 2022)	criteria provided, single submitter
Select item 206334369.	NM_002637.4(PHKA1):c.3621C>T (p.Ala1207=) GRCh37: ChrX:71800903 GRCh38: ChrX:72581053	PHKA1		Glycogen storage disease IXd	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 206328470.	NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln) GRCh37: ChrX:71839077 GRCh38: ChrX:72619227	PHKA1	R680Q, R739Q	Glycogen storage disease IXd	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206251371.	NM_002637.4(PHKA1):c.1296T>A (p.Thr432=) GRCh37: ChrX:71870268 GRCh38: ChrX:72650418	PHKA1		Glycogen storage disease IXd	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 206243072.	NM_002637.4(PHKA1):c.2607-7T>C GRCh37: ChrX:71825476 GRCh38: ChrX:72605626	PHKA1		Glycogen storage disease IXd	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 206155573.	NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe) GRCh37: ChrX:71829477 GRCh38: ChrX:72609627	PHKA1	S809F, S868F	Glycogen storage disease IXd	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 206153674.	NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln) GRCh37: ChrX:71839113 GRCh38: ChrX:72619263	PHKA1	R727Q, R668Q	Glycogen storage disease IXd	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 204059575.	NM_002637.4(PHKA1):c.2815+15A>G GRCh37: ChrX:71825106 GRCh38: ChrX:72605256	PHKA1		Glycogen storage disease IXd	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 203904276.	NM_002637.4(PHKA1):c.543C>T (p.Phe181=) GRCh37: ChrX:71895995 GRCh38: ChrX:72676145	PHKA1		Glycogen storage disease IXd	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 203823277.	NM_002637.4(PHKA1):c.2138-5T>C GRCh37: ChrX:71839160 GRCh38: ChrX:72619310	PHKA1		Glycogen storage disease IXd	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 203306078.	NM_002637.4(PHKA1):c.285+5G>A GRCh37: ChrX:71925042 GRCh38: ChrX:72705193	PHKA1-AS1, PHKA1		Glycogen storage disease IXd	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 203021879.	NM_002637.4(PHKA1):c.1176A>C (p.Arg392=) GRCh37: ChrX:71872463 GRCh38: ChrX:72652613	PHKA1		Glycogen storage disease IXd	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 202610780.	NM_002637.4(PHKA1):c.2667C>T (p.Ser889=) GRCh37: ChrX:71825409 GRCh38: ChrX:72605559	PHKA1		Glycogen storage disease IXd	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 201927081.	NM_002637.4(PHKA1):c.919-17T>C GRCh37: ChrX:71876109 GRCh38: ChrX:72656259	PHKA1		Glycogen storage disease IXd	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201792682.	NM_002637.4(PHKA1):c.238-2A>T GRCh37: ChrX:71925096 GRCh38: ChrX:72705247	PHKA1, PHKA1-AS1		Glycogen storage disease IXd	Likely pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 201382083.	NM_002637.4(PHKA1):c.1460-17T>C GRCh37: ChrX:71856253 GRCh38: ChrX:72636403	PHKA1		Glycogen storage disease IXd	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 200315184.	NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys) GRCh37: ChrX:71830982 GRCh38: ChrX:72611132	PHKA1	E749K, E808K	Glycogen storage disease IXd	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 200253685.	NM_002637.4(PHKA1):c.3474C>T (p.Ala1158=) GRCh37: ChrX:71802272 GRCh38: ChrX:72582422	PHKA1		Glycogen storage disease IXd	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 199691086.	NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val) GRCh37: ChrX:71825247 GRCh38: ChrX:72605397	PHKA1	I897V, I838V	Glycogen storage disease IXd	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 199470587.	NM_002637.4(PHKA1):c.1092T>C (p.Asn364=) GRCh37: ChrX:71873330 GRCh38: ChrX:72653480	PHKA1		Glycogen storage disease IXd	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 198939088.	NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn) GRCh37: ChrX:71813096 GRCh38: ChrX:72593246	PHKA1	S962N, S1021N, S1034N	Glycogen storage disease IXd	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 198888189.	NM_002637.4(PHKA1):c.1460-12A>G GRCh37: ChrX:71856248 GRCh38: ChrX:72636398	PHKA1		Glycogen storage disease IXd	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 198794790.	NM_002637.4(PHKA1):c.1016G>A (p.Gly339Glu) GRCh37: ChrX:71875995 GRCh38: ChrX:72656145	PHKA1	G339E	Glycogen storage disease IXd	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 198681291.	NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile) GRCh37: ChrX:71915566 GRCh38: ChrX:72695716	PHKA1, PHKA1-AS1	T149I	Glycogen storage disease IXd	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 198362092.	NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr) GRCh37: ChrX:71839081 GRCh38: ChrX:72619231	PHKA1	P738T, P679T	Inborn genetic diseases, Glycogen storage disease IXd	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198358293.	NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln) GRCh37: ChrX:71825180 GRCh38: ChrX:72605330	PHKA1	R919Q, R860Q	Glycogen storage disease IXd	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 197966394.	NM_002637.4(PHKA1):c.534T>G (p.Thr178=) GRCh37: ChrX:71904351 GRCh38: ChrX:72684501	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 197904895.	NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr) GRCh37: ChrX:71840677 GRCh38: ChrX:72620827	PHKA1	P679T	Glycogen storage disease IXd	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 197821996.	NM_002637.4(PHKA1):c.3244-12dup GRCh37: ChrX:71804163-71804164 GRCh38: ChrX:72584313-72584314	PHKA1		Glycogen storage disease IXd	Benign (Oct 16, 2022)	criteria provided, single submitter
Select item 197493397.	NM_002637.4(PHKA1):c.3244-29_3244-15del GRCh37: ChrX:71804167-71804181 GRCh38: ChrX:72584317-72584331	PHKA1		Glycogen storage disease IXd	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 197334098.	NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser) GRCh37: ChrX:71831020 GRCh38: ChrX:72611170	PHKA1	N736S, N795S	Glycogen storage disease IXd	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 197276799.	NM_002637.4(PHKA1):c.1569+16T>A GRCh37: ChrX:71856111 GRCh38: ChrX:72636261	PHKA1		Glycogen storage disease IXd	Likely benign (Aug 9, 2022)	criteria provided, single submitter

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