ClinVar for MedGen (Select 107772) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24347011.	NM_000293.3(PHKB):c.821G>A (p.Arg274His) GRCh37: Chr16:47621625 GRCh38: Chr16:47587714	PHKB	R267H, R274H	Glycogen storage disease IXb	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 24347002.	NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp) GRCh37: Chr16:47695655 GRCh38: Chr16:47661744	PHKB	A734D, A741D	Glycogen storage disease IXb	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 24318673.	NM_000293.3(PHKB):c.2427+1001A>G GRCh37: Chr16:47699887 GRCh38: Chr16:47665976	PHKB	K784E, K791E	Glycogen storage disease IXb	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 24228304.	NC_000016.9:g.(?_47621559)_(47630462_?)dup GRCh37: Chr16:47621559-47630462	PHKB		Glycogen storage disease IXb	Likely pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 24228295.	NC_000016.9:g.(?_47722932)_(47733277_?)dup GRCh37: Chr16:47722932-47733277	PHKB		Glycogen storage disease IXb	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 24228286.	NC_000016.9:g.(?_47531290)_(47549532_?)dup GRCh37: Chr16:47531290-47549532	PHKB		Glycogen storage disease IXb	Likely pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 24228277.	NC_000016.9:g.(?_47531290)_(47531419_?)dup GRCh37: Chr16:47531290-47531419	PHKB		Glycogen storage disease IXb	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 24228268.	NC_000016.9:g.(?_47644717)_(47644851_?)dup GRCh37: Chr16:47644717-47644851	PHKB		Glycogen storage disease IXb	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 24228259.	NC_000016.9:g.(?_46694384)_(48258199_?)dup GRCh37: Chr16:46694384-48258199	GPT2, MYLK3, ABCC11, ITFG1, PHKB, ABCC12, VPS35, DNAJA2, ORC6, C16orf87, NETO2		Glycogen storage disease IXb	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 242282410.	NC_000016.9:g.(?_47531290)_(47581479_?)del GRCh37: Chr16:47531290-47581479	PHKB		Glycogen storage disease IXb	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 241977311.	NM_000293.3(PHKB):c.543C>T (p.Tyr181=) GRCh37: Chr16:47549461 GRCh38: Chr16:47515550	PHKB		Glycogen storage disease IXb	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 241559512.	NM_000293.3(PHKB):c.3046C>G (p.Leu1016Val) GRCh37: Chr16:47732401 GRCh38: Chr16:47698490	PHKB	L1009V, L1016V	Glycogen storage disease IXb	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 241421813.	NM_000293.3(PHKB):c.1459-5T>C GRCh37: Chr16:47674941 GRCh38: Chr16:47641030	PHKB		Glycogen storage disease IXb	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 220172514.	NM_000293.3(PHKB):c.470C>T (p.Thr157Ile) GRCh37: Chr16:47545640 GRCh38: Chr16:47511729	PHKB	T150I, T157I	Glycogen storage disease IXb	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 220165115.	NM_000293.3(PHKB):c.1069-3T>C GRCh37: Chr16:47627408 GRCh38: Chr16:47593497	PHKB		Glycogen storage disease IXb	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 219997716.	NM_000293.3(PHKB):c.2281A>G (p.Thr761Ala) GRCh37: Chr16:47697590 GRCh38: Chr16:47663679	PHKB	T754A, T761A	Glycogen storage disease IXb	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 219986917.	NM_000293.3(PHKB):c.1800T>C (p.Asn600=) GRCh37: Chr16:47684457 GRCh38: Chr16:47650546	PHKB		Glycogen storage disease IXb	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 219985818.	NM_000293.3(PHKB):c.2398A>G (p.Ile800Val) GRCh37: Chr16:47698857 GRCh38: Chr16:47664946	PHKB	I800V	not specified, Glycogen storage disease IXb	Uncertain significance (Mar 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219913619.	NM_000293.3(PHKB):c.186G>C (p.Leu62=) GRCh37: Chr16:47533686 GRCh38: Chr16:47499775	LOC112449713, PHKB		Glycogen storage disease IXb	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 219837820.	NM_000293.3(PHKB):c.25G>A (p.Ala9Thr) GRCh37: Chr16:47495286 GRCh38: Chr16:47461375	PHKB	A9T	Glycogen storage disease IXb	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 219762521.	NM_000293.3(PHKB):c.2126G>A (p.Gly709Glu) GRCh37: Chr16:47694660 GRCh38: Chr16:47660749	PHKB	G709E, G702E	Glycogen storage disease IXb	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 219751722.	NM_000293.3(PHKB):c.1A>G (p.Met1Val) GRCh37: Chr16:47495262 GRCh38: Chr16:47461351	PHKB	M1V	Glycogen storage disease IXb, not specified	Uncertain significance (Jan 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219667323.	NM_000293.3(PHKB):c.646C>T (p.Pro216Ser) GRCh37: Chr16:47581395 GRCh38: Chr16:47547484	PHKB	P216S, P209S	Glycogen storage disease IXb	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 219598824.	NM_000293.3(PHKB):c.774+16C>T GRCh37: Chr16:47614285 GRCh38: Chr16:47580374	PHKB		Glycogen storage disease IXb	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 219566225.	NM_000293.3(PHKB):c.186G>A (p.Leu62=) GRCh37: Chr16:47533686 GRCh38: Chr16:47499775	LOC112449713, PHKB		Glycogen storage disease IXb	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 219521626.	NM_000293.3(PHKB):c.2329_2336+5del GRCh37: Chr16:47697638-47697650 GRCh38: Chr16:47663727-47663739	PHKB		Glycogen storage disease IXb	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 219405227.	NM_000293.3(PHKB):c.2628C>T (p.Ile876=) GRCh37: Chr16:47703326 GRCh38: Chr16:47669415	PHKB		Glycogen storage disease IXb	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 219361728.	NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser) GRCh37: Chr16:47703286 GRCh38: Chr16:47669375	PHKB	N856S, N863S	Glycogen storage disease IXb, Inborn genetic diseases	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219177329.	NM_000293.3(PHKB):c.76+2585C>G GRCh37: Chr16:47497922 GRCh38: Chr16:47464011	PHKB		Glycogen storage disease IXb	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 219084630.	NM_000293.3(PHKB):c.2342C>T (p.Ala781Val) GRCh37: Chr16:47698801 GRCh38: Chr16:47664890	PHKB	A781V	Glycogen storage disease IXb	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 219058131.	NM_000293.3(PHKB):c.1779G>T (p.Leu593=) GRCh37: Chr16:47683097 GRCh38: Chr16:47649186	PHKB		Glycogen storage disease IXb	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 219048532.	NM_000293.3(PHKB):c.1784T>C (p.Ile595Thr) GRCh37: Chr16:47683102 GRCh38: Chr16:47649191	PHKB	I588T, I595T	Glycogen storage disease IXb	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 218984933.	NM_000293.3(PHKB):c.1389C>T (p.Asp463=) GRCh37: Chr16:47644762 GRCh38: Chr16:47610851	PHKB		Glycogen storage disease IXb	Likely benign (Nov 27, 2021)	criteria provided, single submitter
Select item 218831334.	NM_000293.3(PHKB):c.405+19G>A GRCh37: Chr16:47537020 GRCh38: Chr16:47503109	PHKB		Glycogen storage disease IXb	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 218773435.	NM_000293.3(PHKB):c.3003+6T>C GRCh37: Chr16:47730405 GRCh38: Chr16:47696494	PHKB		Glycogen storage disease IXb	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 218744736.	NM_000293.3(PHKB):c.1860C>T (p.Leu620=) GRCh37: Chr16:47684517 GRCh38: Chr16:47650606	PHKB		Glycogen storage disease IXb	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 218695037.	NM_000293.3(PHKB):c.27A>G (p.Ala9=) GRCh37: Chr16:47495288 GRCh38: Chr16:47461377	PHKB		Glycogen storage disease IXb	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 218648838.	NM_000293.3(PHKB):c.76+18G>A GRCh37: Chr16:47495355 GRCh38: Chr16:47461444	PHKB		Glycogen storage disease IXb	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 218553939.	NM_000293.3(PHKB):c.76+2551C>T GRCh37: Chr16:47497888 GRCh38: Chr16:47463977	PHKB		Glycogen storage disease IXb	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 218398040.	NM_000293.3(PHKB):c.308G>A (p.Arg103Gln) GRCh37: Chr16:47536904 GRCh38: Chr16:47502993	PHKB	R103Q, R96Q	Inborn genetic diseases, Glycogen storage disease IXb	Uncertain significance (Dec 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218263341.	NM_000293.3(PHKB):c.3098A>G (p.Asn1033Ser) GRCh37: Chr16:47732453 GRCh38: Chr16:47698542	PHKB	N1026S, N1033S	Glycogen storage disease IXb	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 218217042.	NM_000293.3(PHKB):c.2448G>A (p.Gly816=) GRCh37: Chr16:47703146 GRCh38: Chr16:47669235	PHKB		Glycogen storage disease IXb	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 218142843.	NM_000293.3(PHKB):c.211T>G (p.Phe71Val) GRCh37: Chr16:47533711 GRCh38: Chr16:47499800	LOC112449713, PHKB	F64V, F71V	Glycogen storage disease IXb	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 218077444.	NM_000293.3(PHKB):c.2427+981G>A GRCh37: Chr16:47699867 GRCh38: Chr16:47665956	PHKB	R777H, R784H	Glycogen storage disease IXb	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 218003245.	NM_000293.3(PHKB):c.76+15G>T GRCh37: Chr16:47495352 GRCh38: Chr16:47461441	PHKB		Glycogen storage disease IXb	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 218002546.	NM_000293.3(PHKB):c.1317A>C (p.Lys439Asn) GRCh37: Chr16:47630396 GRCh38: Chr16:47596485	PHKB	K432N, K439N	Glycogen storage disease IXb	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 217783447.	NM_000293.3(PHKB):c.2336+19G>T GRCh37: Chr16:47697664 GRCh38: Chr16:47663753	PHKB		Glycogen storage disease IXb	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 217744248.	NM_000293.3(PHKB):c.2510A>G (p.Tyr837Cys) GRCh37: Chr16:47703208 GRCh38: Chr16:47669297	PHKB	Y830C, Y837C	Glycogen storage disease IXb	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 217710049.	NM_000293.3(PHKB):c.570C>A (p.Leu190=) GRCh37: Chr16:47549488 GRCh38: Chr16:47515577	PHKB		Glycogen storage disease IXb	Likely benign (Jul 28, 2022)	criteria provided, single submitter
Select item 217674750.	NM_000293.3(PHKB):c.1127-6T>A GRCh37: Chr16:47628042 GRCh38: Chr16:47594131	PHKB		Glycogen storage disease IXb	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 217483751.	NM_000293.3(PHKB):c.3234G>A (p.Leu1078=) GRCh37: Chr16:47733229 GRCh38: Chr16:47699318	PHKB		Glycogen storage disease IXb	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 217356352.	NM_000293.3(PHKB):c.1900A>G (p.Ile634Val) GRCh37: Chr16:47684761 GRCh38: Chr16:47650850	PHKB	I627V, I634V	Glycogen storage disease IXb	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 216737753.	NM_000293.3(PHKB):c.1972-13G>A GRCh37: Chr16:47694404 GRCh38: Chr16:47660493	PHKB		Glycogen storage disease IXb	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 216688954.	NM_000293.3(PHKB):c.2534G>C (p.Arg845Thr) GRCh37: Chr16:47703232 GRCh38: Chr16:47669321	PHKB	R838T, R845T	Glycogen storage disease IXb	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 216619055.	NM_000293.3(PHKB):c.2755C>A (p.Gln919Lys) GRCh37: Chr16:47723076 GRCh38: Chr16:47689165	PHKB	Q912K, Q919K	Glycogen storage disease IXb	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 216577656.	NM_000293.3(PHKB):c.594+4T>G GRCh37: Chr16:47549516 GRCh38: Chr16:47515605	PHKB		Glycogen storage disease IXb	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 216453957.	NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn) GRCh37: Chr16:47536975 GRCh38: Chr16:47503064	PHKB	Y120N, Y127N	Glycogen storage disease IXb	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 216323958.	NM_000293.3(PHKB):c.21C>T (p.Leu7=) GRCh37: Chr16:47495282 GRCh38: Chr16:47461371	PHKB		Glycogen storage disease IXb	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 216274959.	NM_000293.3(PHKB):c.1861A>C (p.Ile621Leu) GRCh37: Chr16:47684518 GRCh38: Chr16:47650607	PHKB	I614L, I621L	Glycogen storage disease IXb	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 216257160.	NM_000293.3(PHKB):c.204C>G (p.Thr68=) GRCh37: Chr16:47533704 GRCh38: Chr16:47499793	LOC112449713, PHKB		Glycogen storage disease IXb	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 216168761.	NM_000293.3(PHKB):c.871-8G>T GRCh37: Chr16:47622808 GRCh38: Chr16:47588897	PHKB		Glycogen storage disease IXb	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 216168362.	NM_000293.3(PHKB):c.1520A>G (p.Gln507Arg) GRCh37: Chr16:47675515 GRCh38: Chr16:47641604	PHKB	Q507R, Q500R	Glycogen storage disease IXb	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 216148463.	NM_000293.3(PHKB):c.2428-4G>T GRCh37: Chr16:47703122 GRCh38: Chr16:47669211	PHKB		Glycogen storage disease IXb	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 216020864.	NM_000293.3(PHKB):c.320A>G (p.Asp107Gly) GRCh37: Chr16:47536916 GRCh38: Chr16:47503005	PHKB	D100G, D107G	Glycogen storage disease IXb	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 215919365.	NM_000293.3(PHKB):c.1434C>T (p.Asn478=) GRCh37: Chr16:47644807 GRCh38: Chr16:47610896	PHKB		Glycogen storage disease IXb	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 215685066.	NM_000293.3(PHKB):c.2346G>A (p.Val782=) GRCh37: Chr16:47698805 GRCh38: Chr16:47664894	PHKB		Glycogen storage disease IXb	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 215638467.	NM_000293.3(PHKB):c.2086G>A (p.Val696Ile) GRCh37: Chr16:47694620 GRCh38: Chr16:47660709	PHKB	V689I, V696I	Glycogen storage disease IXb	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 215502268.	NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys) GRCh37: Chr16:47644782 GRCh38: Chr16:47610871	PHKB	Y463C, Y470C	Glycogen storage disease IXb, Inborn genetic diseases	Uncertain significance (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215455769.	NM_000293.3(PHKB):c.3242A>C (p.Glu1081Ala) GRCh37: Chr16:47733237 GRCh38: Chr16:47699326	PHKB	E1074A, E1081A	Glycogen storage disease IXb	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 215454370.	NM_000293.3(PHKB):c.76+20C>T GRCh37: Chr16:47495357 GRCh38: Chr16:47461446	PHKB		Glycogen storage disease IXb	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 215245671.	NM_000293.3(PHKB):c.228C>T (p.Cys76=) GRCh37: Chr16:47533728 GRCh38: Chr16:47499817	LOC112449713, PHKB		Glycogen storage disease IXb	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 214979972.	NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp) GRCh37: Chr16:47733251 GRCh38: Chr16:47699340	PHKB	N1086D, N1079D	Glycogen storage disease IXb, Inborn genetic diseases	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214895473.	NM_000293.3(PHKB):c.743C>G (p.Ala248Gly) GRCh37: Chr16:47614238 GRCh38: Chr16:47580327	PHKB	A241G, A248G	Glycogen storage disease IXb	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 214748574.	NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys) GRCh37: Chr16:47675533 GRCh38: Chr16:47641622	PHKB	Y513C, Y506C	Glycogen storage disease IXb	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 214716875.	NM_000293.3(PHKB):c.3215C>T (p.Ala1072Val) GRCh37: Chr16:47733210 GRCh38: Chr16:47699299	PHKB	A1065V, A1072V	Glycogen storage disease IXb	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 214636276.	NM_000293.3(PHKB):c.1731G>A (p.Pro577=) GRCh37: Chr16:47683049 GRCh38: Chr16:47649138	PHKB		Glycogen storage disease IXb	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 214611877.	NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser) GRCh37: Chr16:47733252 GRCh38: Chr16:47699341	PHKB	N1079S, N1086S	Glycogen storage disease IXb	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 214378478.	NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs) GRCh37: Chr16:47732494-47732497 GRCh38: Chr16:47698583-47698586	PHKB	Q1048fs, Q1041fs	Glycogen storage disease IXb	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 214241879.	NM_000293.3(PHKB):c.2985C>T (p.Tyr995=) GRCh37: Chr16:47730381 GRCh38: Chr16:47696470	PHKB		Glycogen storage disease IXb	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 214140880.	NM_000293.3(PHKB):c.1458+3A>G GRCh37: Chr16:47644834 GRCh38: Chr16:47610923	PHKB		Glycogen storage disease IXb	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 214121281.	NM_000293.3(PHKB):c.1876A>G (p.Ile626Val) GRCh37: Chr16:47684533 GRCh38: Chr16:47650622	PHKB	I619V, I626V	Glycogen storage disease IXb	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 214064082.	NM_000293.3(PHKB):c.2427+980C>T GRCh37: Chr16:47699866 GRCh38: Chr16:47665955	PHKB	R777C, R784C	Glycogen storage disease IXb	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213550983.	NM_000293.3(PHKB):c.3079C>T (p.Leu1027=) GRCh37: Chr16:47732434 GRCh38: Chr16:47698523	PHKB		Glycogen storage disease IXb	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 213369584.	NM_000293.3(PHKB):c.438A>G (p.Thr146=) GRCh37: Chr16:47545608 GRCh38: Chr16:47511697	PHKB		Glycogen storage disease IXb	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213317785.	NM_000293.3(PHKB):c.406G>A (p.Val136Ile) GRCh37: Chr16:47545576 GRCh38: Chr16:47511665	PHKB	V129I, V136I	Glycogen storage disease IXb	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213122586.	NM_000293.3(PHKB):c.542A>G (p.Tyr181Cys) GRCh37: Chr16:47549460 GRCh38: Chr16:47515549	PHKB	Y181C, Y174C	Glycogen storage disease IXb	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 212685087.	NM_000293.3(PHKB):c.710+4A>G GRCh37: Chr16:47581463 GRCh38: Chr16:47547552	PHKB		Glycogen storage disease IXb	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 212551588.	NM_000293.3(PHKB):c.1609-17A>C GRCh37: Chr16:47682427 GRCh38: Chr16:47648516	PHKB		Glycogen storage disease IXb	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 212271689.	NM_000293.3(PHKB):c.1956T>C (p.His652=) GRCh37: Chr16:47684817 GRCh38: Chr16:47650906	PHKB		Glycogen storage disease IXb	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 212160890.	NM_000293.3(PHKB):c.306-4C>T GRCh37: Chr16:47536898 GRCh38: Chr16:47502987	PHKB		Glycogen storage disease IXb	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 211899091.	NM_000293.3(PHKB):c.2261A>C (p.Asn754Thr) GRCh37: Chr16:47695694 GRCh38: Chr16:47661783	PHKB	N747T, N754T	Glycogen storage disease IXb	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 210802392.	NM_000293.3(PHKB):c.2033+5G>A GRCh37: Chr16:47694483 GRCh38: Chr16:47660572	PHKB		Glycogen storage disease IXb	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 210711493.	NM_000293.3(PHKB):c.2078A>G (p.His693Arg) GRCh37: Chr16:47694612 GRCh38: Chr16:47660701	PHKB	H686R, H693R	Glycogen storage disease IXb	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 210568394.	NM_000293.3(PHKB):c.2766-12C>T GRCh37: Chr16:47727277 GRCh38: Chr16:47693366	PHKB		Glycogen storage disease IXb	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 210159895.	NM_000293.3(PHKB):c.2344G>A (p.Val782Met) GRCh37: Chr16:47698803 GRCh38: Chr16:47664892	PHKB	V782M	Glycogen storage disease IXb	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 210136896.	NM_000293.3(PHKB):c.219T>C (p.Thr73=) GRCh37: Chr16:47533719 GRCh38: Chr16:47499808	LOC112449713, PHKB		Glycogen storage disease IXb	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 209841897.	NM_000293.3(PHKB):c.3221T>A (p.Met1074Lys) GRCh37: Chr16:47733216 GRCh38: Chr16:47699305	PHKB	M1074K, M1067K	Glycogen storage disease IXb	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 209779498.	NM_000293.3(PHKB):c.10del (p.Ala4fs) GRCh37: Chr16:47495267 GRCh38: Chr16:47461356	PHKB	A4fs	Glycogen storage disease IXb	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 209264099.	NM_000293.3(PHKB):c.3144+7A>G GRCh37: Chr16:47732506 GRCh38: Chr16:47698595	PHKB		Glycogen storage disease IXb	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 2089001100.	NM_000293.3(PHKB):c.2320G>C (p.Gly774Arg) GRCh37: Chr16:47697629 GRCh38: Chr16:47663718	PHKB	G767R, G774R	Glycogen storage disease IXb	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter

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