Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)	SNV Germline	Chr16:47650919	Pathogenic/Likely pathogenic	Glycogen storage disease IXb Condition: not provided Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA256911	rs_34667348	12 SubmittersRCV000014588 RCV001171912 RCV005887501
NM_000293.3(PHKB):c.306-2A>G	SNV Germline	Chr16:47502989	Pathogenic/Likely pathogenic	Glycogen storage disease IXb Glycogen phosphorylase kinase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA256913	rs_797044442	3 SubmittersRCV000014589 RCV003398507
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)	SNV Germline	Chr16:47596425	Pathogenic	Glycogen storage disease IXb Glycogen phosphorylase kinase deficiency PHKB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256914	rs_121918021	4 SubmittersRCV000014590 RCV003993744 RCV004755735
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)	SNV Germline	Chr16:47503037	Conflicting classifications of pathogenicity	Glycogen storage disease IXb not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA256916	rs_121918022	5 SubmittersRCV000014592 RCV004586008 RCV003231104
NM_000293.3(PHKB):c.2926G>T (p.Glu976Ter)	SNV Germline	Chr16:47696411	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter		rs_199948078	1 SubmittersRCV005055785
NM_000293.3(PHKB):c.1459-9G>T	SNV Germline	Chr16:47641026	Conflicting classifications of pathogenicity	not specified Condition: not provided Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA240435	rs_201995780	6 SubmittersRCV000243915 RCV000724511 RCV001087224
NM_000293.3(PHKB):c.2445T>C (p.Phe815=)	SNV Germline	Chr16:47669232	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA242627	rs_61494991	2 SubmittersRCV000176616 RCV002517700
NM_000293.3(PHKB):c.2766-7G>A	SNV Germline	Chr16:47693371	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA242909	rs_199719186	2 SubmittersRCV000176842 RCV001402832
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)	SNV Germline	Chr16:47515525	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb PHKB-related disorder	Criteria Provided Conflicting Classifications	CA246558	rs_139738333	8 SubmittersRCV000179287 RCV001083212 RCV003927676
NM_000293.3(PHKB):c.305+11G>T	SNV Germline	Chr16:47499905	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040422	rs_368293023	3 SubmittersRCV000244592 RCV001121037
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)	SNV Germline	Chr16:47650919	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb not specified PHKB-related disorder	Criteria Provided Conflicting Classifications	CA8041017	rs_34667348	11 SubmittersRCV000675928 RCV000764072 RCV003401228 RCV003920034
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)	SNV Germline	Chr16:47641630	Pathogenic	Condition: not provided Glycogen storage disease IXb	Criteria Provided Multiple Submitters No Conflicts	CA8040878	rs_758004953	2 SubmittersRCV000393619 RCV000778463
NM_000293.3(PHKB):c.1797+9G>A	SNV Germline	Chr16:47649213	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040961	rs_746001808	2 SubmittersRCV000309130
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)	SNV Germline	Chr16:47503085	Conflicting classifications of pathogenicity	Glycogen storage disease IXb Condition: not provided PHKB-related disorder	Criteria Provided Conflicting Classifications	CA8040462	rs_144486825	7 SubmittersRCV000530542 RCV000675920 RCV003940252
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)	SNV Germline	Chr16:47511750	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040501	rs_144211929	2 SubmittersRCV000637065
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)	SNV Germline	Chr16:47596518	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040772	rs_199941695	2 SubmittersRCV000278459
NM_000293.3(PHKB):c.595-5T>G	SNV Germline	Chr16:47547428	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040554	rs_369184808	2 SubmittersRCV000302309
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)	SNV Germline	Chr16:47588966	Conflicting classifications of pathogenicity	Glycogen storage disease IXb Condition: not provided	Criteria Provided Conflicting Classifications	CA8040659	rs_149685822	3 SubmittersRCV000389565 RCV000675924
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)	SNV Germline	Chr16:47649153	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IXb Condition: not provided	Criteria Provided Conflicting Classifications	CA8040950	rs_111970242	5 SubmittersRCV000428534 RCV000955135 RCV003417997
NM_000293.3(PHKB):c.2196+14A>G	SNV Germline	Chr16:47660833	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8041089	rs_751084282	2 SubmittersRCV000369410
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)	SNV Germline	Chr16:47699300	Conflicting classifications of pathogenicity	Glycogen storage disease IXb Condition: not provided	Criteria Provided Conflicting Classifications	CA8041487	rs_137869198	3 SubmittersRCV000903008 RCV003417999
NM_000293.3(PHKB):c.270C>T (p.Cys90=)	SNV Germline	Chr16:47499859	Conflicting classifications of pathogenicity	Glycogen storage disease IXb Condition: not provided	Criteria Provided Conflicting Classifications	CA8040413	rs_139431568	4 SubmittersRCV000966312 RCV001705477
NM_000293.3(PHKB):c.714G>A (p.Ser238=)	SNV Germline	Chr16:47580298	Conflicting classifications of pathogenicity	Glycogen storage disease IXb PHKB-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8040591	rs_772326970	4 SubmittersRCV000271635 RCV004755876 RCV005639106
NM_000293.3(PHKB):c.1204+9G>T	SNV Germline	Chr16:47594223	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040731	rs_200832185	2 SubmittersRCV000375280
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)	SNV Germline	Chr16:47660759	Conflicting classifications of pathogenicity	Glycogen storage disease IXb not specified	Criteria Provided Conflicting Classifications	CA8041078	rs_200274360	3 SubmittersRCV000307767 RCV000423838
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)	SNV Germline	Chr16:47669416	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8041285	rs_150902092	2 SubmittersRCV000261198
NM_000293.3(PHKB):c.1364-10T>C	SNV Germline	Chr16:47610816	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040797	rs_199899291	3 SubmittersRCV000427111 RCV000896606
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu)	SNV Germline	Chr16:47649166	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb PHKB-related disorder	Criteria Provided Conflicting Classifications	CA8040952	rs_140636792	3 SubmittersRCV000420568 RCV001504981 RCV003925295
NM_000293.3(PHKB):c.1972-7G>A	SNV Germline	Chr16:47660499	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8041038	rs_765332910	3 SubmittersRCV000429946 RCV001117677
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter)	SNV Germline	Chr16:47502992	Pathogenic/Likely pathogenic	Condition: not provided Glycogen phosphorylase kinase deficiency Glycogen storage disease IXb	Criteria Provided Multiple Submitters No Conflicts	CA8040444	rs_145166656	3 SubmittersRCV000489267 RCV003226306 RCV005091002
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)	SNV Germline	Chr16:47515581	Conflicting classifications of pathogenicity	not specified Glycogen storage disease IXb Condition: not provided PHKB-related disorder Uterine corpus endometrial carcinoma Lung cancer Malignant tumor of esophagus Familial cancer of breast Clear cell carcinoma of kidney Colon adenocarcinoma Gastric cancer Ovarian serous cystadenocarcinoma Melanoma	Criteria Provided Conflicting Classifications	CA8040532	rs_117218785	9 SubmittersRCV000603302 RCV000662068 RCV000675921 RCV003980181 RCV005900020 RCV005900019 RCV005900014 RCV005900012 RCV005900015 RCV005900013 RCV005900016 RCV005900017 RCV005900018
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)	SNV Germline	Chr16:47660548	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA395788445	rs_1273669177	5 SubmittersRCV000627286 RCV002250673
NM_000293.3(PHKB):c.678A>G (p.Lys226=)	SNV Germline	Chr16:47547516	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040562	rs_762504730	2 SubmittersRCV000731101 RCV003768204
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)	SNV Germline	Chr16:47660698	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb PHKB-related disorder	Criteria Provided Conflicting Classifications	CA8041068	rs_142381554	4 SubmittersRCV000731361 RCV001082215 RCV003908041
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)	SNV Germline	Chr16:47663724	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease IXb Glycogen phosphorylase kinase deficiency PHKB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8041147	rs_149244943	6 SubmittersRCV000760911 RCV001206878 RCV003226380 RCV003892688
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter)	SNV Germline	Chr16:47689135	Pathogenic/Likely pathogenic	Condition: not provided Glycogen storage disease IXb	Criteria Provided Multiple Submitters No Conflicts	CA8041319	rs_748262135	2 SubmittersRCV000760570 RCV003626639
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)	SNV Germline	Chr16:47593521	Pathogenic/Likely pathogenic	Glycogen storage disease IXb PHKB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8040689	rs_371296953	4 SubmittersRCV000779190 RCV004756034
NM_000293.3(PHKB):c.76+2T>C	SNV Germline	Chr16:47461428	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396102616	rs_1303617854	1 SubmittersRCV000779188
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)	SNV Germline	Chr16:47663682	Conflicting classifications of pathogenicity	Glycogen storage disease IXb PHKB-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8041141	rs_56010117	5 SubmittersRCV000967414 RCV003960787 RCV004792589 RCV006367498
NM_000293.3(PHKB):c.1574C>A (p.Pro525His)	SNV Germline	Chr16:47641658	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb PHKB-related disorder	Criteria Provided Conflicting Classifications	CA8040884	rs_79509460	4 SubmittersRCV000906905 RCV002065750 RCV003968336
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)	SNV Germline	Chr16:47696480	Conflicting classifications of pathogenicity	Glycogen storage disease IXb Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8041391	rs_375389167	2 SubmittersRCV001040703 RCV002553069
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)	SNV Germline	Chr16:47461380	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8040314	rs_760502380	3 SubmittersRCV001121035
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)	SNV Germline	Chr16:47660729	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA495103919	rs_1248967430	2 SubmittersRCV001117678
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)	SNV Germline	Chr16:47660809	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8041086	rs_573384357	2 SubmittersRCV001117679
NM_000293.3(PHKB):c.2197-10A>T	SNV Germline	Chr16:47661709	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8041109	rs_750018974	2 SubmittersRCV001119246
NM_000293.3(PHKB):c.1364-2A>G	SNV Germline	Chr16:47610824	Pathogenic	Glycogen storage disease IXb	Criteria Provided Multiple Submitters No Conflicts	CA395802450	rs_1972413438	2 SubmittersRCV001293803
NM_000293.3(PHKB):c.1127-2A>G	SNV Germline	Chr16:47594135	Pathogenic/Likely pathogenic	Glycogen storage disease IXb PHKB-related disorder Glycogen phosphorylase kinase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA8040716	rs_535749057	7 SubmittersRCV001808058 RCV003416466 RCV005432798
NM_000293.3(PHKB):c.1797+1G>C	SNV Germline	Chr16:47649205	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395786363	rs_777714363	1 SubmittersRCV001378963
NM_000293.3(PHKB):c.2427+969C>T	SNV Germline	Chr16:47665944	Conflicting classifications of pathogenicity	Condition: not provided Glycogen storage disease IXb	Criteria Provided Conflicting Classifications	CA8041214	rs_1131063	2 SubmittersRCV001752788 RCV002077194
NM_000293.3(PHKB):c.2427+965A>C	SNV Germline	Chr16:47665940	Pathogenic/Likely pathogenic	Glycogen storage disease IXb Glycogen phosphorylase kinase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA8041213	rs_761645932	2 SubmittersRCV001957103 RCV002509720
NM_000293.3(PHKB):c.595-1G>A	SNV Germline	Chr16:47547432	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395787147	rs_2151672494	1 SubmittersRCV002030392
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter)	SNV Germline	Chr16:47648612	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395785394	rs_1292721679	1 SubmittersRCV002250228
NM_000293.3(PHKB):c.1972-2A>G	SNV Germline	Chr16:47660504	Pathogenic/Likely pathogenic	See cases Glycogen storage disease IXb Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA280216502	rs_964263812	3 SubmittersRCV002253115 RCV003094124 RCV003314723
NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter)	SNV Germline	Chr16:47596453	Pathogenic	Condition: not provided Glycogen storage disease IXb Glycogen phosphorylase kinase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA8040760	rs_563345848	3 SubmittersRCV002273422 RCV003096156 RCV004782913
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)	SNV Germline	Chr16:47669410	Pathogenic/Likely pathogenic	Glycogen phosphorylase kinase deficiency Glycogen storage disease IXb	Criteria Provided Multiple Submitters No Conflicts	CA395791529	rs_768885733	2 SubmittersRCV002469968 RCV003775504
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)	SNV Germline	Chr16:47693451	Pathogenic	Glycogen phosphorylase kinase deficiency Glycogen storage disease IXb	Criteria Provided Multiple Submitters No Conflicts	CA8041344	rs_763501714	2 SubmittersRCV003226661 RCV003514620
NM_000293.3(PHKB):c.928G>T (p.Glu310Ter)	SNV Germline	Chr16:47588962	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395795858	rs_2506377426	1 SubmittersRCV003340783
NM_000293.3(PHKB):c.2896-1G>T	SNV Germline	Chr16:47696380	Pathogenic	PHKB-related disorder Glycogen storage disease IXb	Criteria Provided Multiple Submitters No Conflicts	CA8041374	rs_764133797	2 SubmittersRCV003403028 RCV003514641
NM_000293.3(PHKB):c.405+1G>T	SNV Germline	Chr16:47503091	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396099131	rs_1314795030	1 SubmittersRCV003448716
NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)	SNV Germline	Chr16:47497449	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396097662	rs_2548334893	1 SubmittersRCV003514716
NM_000293.3(PHKB):c.1126+1G>T	SNV Germline	Chr16:47593558	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395797980	rs_1268058356	1 SubmittersRCV003515447
NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)	SNV Germline	Chr16:47497402	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396097174	rs_769640225	1 SubmittersRCV003515280
NM_000293.3(PHKB):c.1204+1G>T	SNV Germline	Chr16:47594215	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395798903	rs_1972079641	1 SubmittersRCV003516374
NM_000293.3(PHKB):c.3003+2T>C	SNV Germline	Chr16:47696490	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396101228	rs_2506732204	1 SubmittersRCV003516601
NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)	SNV Germline	Chr16:47587749	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395795535	rs_2506372380	1 SubmittersRCV003514793
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)	SNV Germline	Chr16:47593520	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395797712	rs_1972066901	1 SubmittersRCV003516095
NM_000293.3(PHKB):c.2427+1G>A	SNV Germline	Chr16:47664976	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395789882	rs_1290323940	1 SubmittersRCV003626879
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)	SNV Germline	Chr16:47693384	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396100378	rs_2506722059	1 SubmittersRCV003626979
NM_000293.3(PHKB):c.1693-2A>G	SNV Germline	Chr16:47649098	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395785707	rs_2506567176	1 SubmittersRCV003626947
NM_000293.3(PHKB):c.1797+1G>A	SNV Germline	Chr16:47649205	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA8040957	rs_777714363	1 SubmittersRCV003627073
NM_000293.3(PHKB):c.305+2T>C	SNV Germline	Chr16:47499896	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA280721441	rs_899519576	1 SubmittersRCV003627082
NM_000293.3(PHKB):c.775-1G>A	SNV Germline	Chr16:47587667	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395794937	rs_2506371794	1 SubmittersRCV003627883
NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)	SNV Germline	Chr16:47596398	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395799726	rs_2506401975	1 SubmittersRCV003627891
NM_000293.3(PHKB):c.2895+1G>A	SNV Germline	Chr16:47693508	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396100799	rs_1191733811	1 SubmittersRCV003628141
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)	SNV Germline	Chr16:47580297	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395793336	rs_748242735	1 SubmittersRCV003626346
NM_000293.3(PHKB):c.1364-1G>A	SNV Germline	Chr16:47610825	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395802465	rs_2506450760	1 SubmittersRCV003627164
NM_000293.3(PHKB):c.77-1G>A	SNV Germline	Chr16:47497398	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396097143	rs_780885921	1 SubmittersRCV003627319
NM_000293.3(PHKB):c.2427+977C>T	SNV Germline	Chr16:47665952	Conflicting classifications of pathogenicity	Glycogen storage disease IXb Mitochondrial disease not specified	Criteria Provided Conflicting Classifications	CA8041216	rs_760569328	3 SubmittersRCV003627333 RCV005626854 RCV004701815
NM_000293.3(PHKB):c.3004-2A>G	SNV Germline	Chr16:47698446	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396101412	rs_1974188923	1 SubmittersRCV003810987
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)	SNV Germline	Chr16:47689043	Pathogenic	Glycogen storage disease IXb Melanoma	Criteria Provided Single Submitter	CA280738726	rs_1000274245	2 SubmittersRCV003828884 RCV005934982
NM_000293.3(PHKB):c.2278+1G>A	SNV Germline	Chr16:47661801	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395789372	rs_2506610275	1 SubmittersRCV003836025
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)	SNV Germline	Chr16:47511755	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396099496	rs_774068671	1 SubmittersRCV003852849
NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)	SNV Germline	Chr16:47596425	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395799844	rs_121918021	1 SubmittersRCV003853285
NM_000293.3(PHKB):c.1126+2T>C	SNV Germline	Chr16:47593559	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA280223675	rs_967041673	1 SubmittersRCV003849472
NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)	SNV Germline	Chr16:47588977	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395795940	rs_1230727136	1 SubmittersRCV003857374
NM_000293.3(PHKB):c.710+1G>T	SNV Germline	Chr16:47547549	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA395787716	rs_2506226903	1 SubmittersRCV003860923
NM_000293.3(PHKB):c.1609-2A>C	SNV Germline	Chr16:47648531	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA8040908	rs_754199774	1 SubmittersRCV003866109
NM_000293.3(PHKB):c.513+2T>A	SNV Germline	Chr16:47511774	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter	CA396099579	rs_2548341056	1 SubmittersRCV003878130
NM_000293.3(PHKB):c.594+1G>A	SNV Germline	Chr16:47515602	Conflicting classifications of pathogenicity	Glycogen storage disease IXb	Criteria Provided Conflicting Classifications		rs_2548342446	2 SubmittersRCV004595211
NM_000293.3(PHKB):c.514-1G>C	SNV Germline	Chr16:47515520	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005015509
NM_000293.3(PHKB):c.1514+2T>A	SNV Germline	Chr16:47641092	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005015512
NM_000293.3(PHKB):c.2336+2T>C	SNV Germline	Chr16:47663736	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005015517
NM_000293.3(PHKB):c.2494C>T (p.Gln832Ter)	SNV Germline	Chr16:47669281	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005015518
NM_000293.3(PHKB):c.2554G>T (p.Glu852Ter)	SNV Germline	Chr16:47669341	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005065550
NM_000293.3(PHKB):c.2830C>T (p.Arg944Ter)	SNV Germline	Chr16:47693442	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005064391
NM_000293.3(PHKB):c.1126G>T (p.Gly376Ter)	SNV Germline	Chr16:47593557	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005071176
NM_000293.3(PHKB):c.409C>T (p.Gln137Ter)	SNV Germline	Chr16:47511668	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005076773
NM_000293.3(PHKB):c.2766-1G>A	SNV Germline	Chr16:47693377	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005118599
NM_000293.3(PHKB):c.2765+2T>C	SNV Germline	Chr16:47689177	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005149775
NM_000293.3(PHKB):c.785G>A (p.Trp262Ter)	SNV Germline	Chr16:47587678	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005161093
NM_000293.3(PHKB):c.870+1G>T	SNV Germline	Chr16:47587764	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005172350
NM_000293.3(PHKB):c.2700T>A (p.Tyr900Ter)	SNV Germline	Chr16:47689110	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005169124
NM_000293.3(PHKB):c.848T>A (p.Leu283Ter)	SNV Germline	Chr16:47587741	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV005362332
NM_000293.3(PHKB):c.2033+1G>T	SNV Germline	Chr16:47660568	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV006502181
NM_000293.3(PHKB):c.1514+1G>T	SNV Germline	Chr16:47641091	Likely pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV006512007
NM_000293.3(PHKB):c.2125G>T (p.Gly709Ter)	SNV Germline	Chr16:47660748	Pathogenic	Glycogen storage disease IXb	Criteria Provided Single Submitter			1 SubmittersRCV006515852

NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr16:47650919

Pathogenic/Likely pathogenic

Glycogen storage disease IXb
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA256911

rs_34667348

12 SubmittersRCV000014588 RCV001171912 RCV005887501

NM_000293.3(PHKB):c.306-2A>G

SNV
Germline

Chr16:47502989

Pathogenic/Likely pathogenic

Glycogen storage disease IXb
Glycogen phosphorylase kinase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA256913

rs_797044442

3 SubmittersRCV000014589 RCV003398507

NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)

SNV
Germline

Chr16:47596425

Pathogenic

Glycogen storage disease IXb
Glycogen phosphorylase kinase deficiency
PHKB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256914

rs_121918021

4 SubmittersRCV000014590 RCV003993744 RCV004755735

NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)

SNV
Germline

Chr16:47503037

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256916

rs_121918022

5 SubmittersRCV000014592 RCV004586008 RCV003231104

NM_000293.3(PHKB):c.2926G>T (p.Glu976Ter)

SNV
Germline

Chr16:47696411

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

rs_199948078

1 SubmittersRCV005055785

NM_000293.3(PHKB):c.1459-9G>T

SNV
Germline

Chr16:47641026

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA240435

rs_201995780

6 SubmittersRCV000243915 RCV000724511 RCV001087224

NM_000293.3(PHKB):c.2445T>C (p.Phe815=)

SNV
Germline

Chr16:47669232

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA242627

rs_61494991

2 SubmittersRCV000176616 RCV002517700

NM_000293.3(PHKB):c.2766-7G>A

SNV
Germline

Chr16:47693371

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA242909

rs_199719186

2 SubmittersRCV000176842 RCV001402832

NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)

SNV
Germline

Chr16:47515525

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb
PHKB-related disorder

Criteria Provided
Conflicting Classifications

CA246558

rs_139738333

8 SubmittersRCV000179287 RCV001083212 RCV003927676

NM_000293.3(PHKB):c.305+11G>T

SNV
Germline

Chr16:47499905

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040422

rs_368293023

3 SubmittersRCV000244592 RCV001121037

NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)

SNV
Germline

Chr16:47650919

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb
not specified
PHKB-related disorder

Criteria Provided
Conflicting Classifications

CA8041017

rs_34667348

11 SubmittersRCV000675928 RCV000764072 RCV003401228 RCV003920034

NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr16:47641630

Pathogenic

Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Multiple Submitters
No Conflicts

CA8040878

rs_758004953

2 SubmittersRCV000393619 RCV000778463

NM_000293.3(PHKB):c.1797+9G>A

SNV
Germline

Chr16:47649213

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040961

rs_746001808

2 SubmittersRCV000309130

NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)

SNV
Germline

Chr16:47503085

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
Condition: not provided
PHKB-related disorder

Criteria Provided
Conflicting Classifications

CA8040462

rs_144486825

7 SubmittersRCV000530542 RCV000675920 RCV003940252

NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)

SNV
Germline

Chr16:47511750

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040501

rs_144211929

2 SubmittersRCV000637065

NM_000293.3(PHKB):c.1350C>T (p.Ile450=)

SNV
Germline

Chr16:47596518

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040772

rs_199941695

2 SubmittersRCV000278459

NM_000293.3(PHKB):c.595-5T>G

SNV
Germline

Chr16:47547428

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040554

rs_369184808

2 SubmittersRCV000302309

NM_000293.3(PHKB):c.932T>C (p.Val311Ala)

SNV
Germline

Chr16:47588966

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8040659

rs_149685822

3 SubmittersRCV000389565 RCV000675924

NM_000293.3(PHKB):c.1746A>G (p.Leu582=)

SNV
Germline

Chr16:47649153

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IXb
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8040950

rs_111970242

5 SubmittersRCV000428534 RCV000955135 RCV003417997

NM_000293.3(PHKB):c.2196+14A>G

SNV
Germline

Chr16:47660833

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8041089

rs_751084282

2 SubmittersRCV000369410

NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)

SNV
Germline

Chr16:47699300

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8041487

rs_137869198

3 SubmittersRCV000903008 RCV003417999

NM_000293.3(PHKB):c.270C>T (p.Cys90=)

SNV
Germline

Chr16:47499859

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8040413

rs_139431568

4 SubmittersRCV000966312 RCV001705477

NM_000293.3(PHKB):c.714G>A (p.Ser238=)

SNV
Germline

Chr16:47580298

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
PHKB-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8040591

rs_772326970

4 SubmittersRCV000271635 RCV004755876 RCV005639106

NM_000293.3(PHKB):c.1204+9G>T

SNV
Germline

Chr16:47594223

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040731

rs_200832185

2 SubmittersRCV000375280

NM_000293.3(PHKB):c.2136G>A (p.Pro712=)

SNV
Germline

Chr16:47660759

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
not specified

Criteria Provided
Conflicting Classifications

CA8041078

rs_200274360

3 SubmittersRCV000307767 RCV000423838

NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)

SNV
Germline

Chr16:47669416

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8041285

rs_150902092

2 SubmittersRCV000261198

NM_000293.3(PHKB):c.1364-10T>C

SNV
Germline

Chr16:47610816

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040797

rs_199899291

3 SubmittersRCV000427111 RCV000896606

NM_000293.3(PHKB):c.1759A>C (p.Met587Leu)

SNV
Germline

Chr16:47649166

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb
PHKB-related disorder

Criteria Provided
Conflicting Classifications

CA8040952

rs_140636792

3 SubmittersRCV000420568 RCV001504981 RCV003925295

NM_000293.3(PHKB):c.1972-7G>A

SNV
Germline

Chr16:47660499

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8041038

rs_765332910

3 SubmittersRCV000429946 RCV001117677

NM_000293.3(PHKB):c.307C>T (p.Arg103Ter)

SNV
Germline

Chr16:47502992

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen phosphorylase kinase deficiency
Glycogen storage disease IXb

Criteria Provided
Multiple Submitters
No Conflicts

CA8040444

rs_145166656

3 SubmittersRCV000489267 RCV003226306 RCV005091002

NM_000293.3(PHKB):c.574A>G (p.Ile192Val)

SNV
Germline

Chr16:47515581

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IXb
Condition: not provided
PHKB-related disorder
Uterine corpus endometrial carcinoma
Lung cancer
Malignant tumor of esophagus
Familial cancer of breast
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma

Criteria Provided
Conflicting Classifications

CA8040532

rs_117218785

9 SubmittersRCV000603302 RCV000662068 RCV000675921 RCV003980181 RCV005900020 RCV005900019 RCV005900014 RCV005900012 RCV005900015 RCV005900013 RCV005900016 RCV005900017 RCV005900018

NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)

SNV
Germline

Chr16:47660548

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA395788445

rs_1273669177

5 SubmittersRCV000627286 RCV002250673

NM_000293.3(PHKB):c.678A>G (p.Lys226=)

SNV
Germline

Chr16:47547516

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040562

rs_762504730

2 SubmittersRCV000731101 RCV003768204

NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)

SNV
Germline

Chr16:47660698

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb
PHKB-related disorder

Criteria Provided
Conflicting Classifications

CA8041068

rs_142381554

4 SubmittersRCV000731361 RCV001082215 RCV003908041

NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)

SNV
Germline

Chr16:47663724

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease IXb
Glycogen phosphorylase kinase deficiency
PHKB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8041147

rs_149244943

6 SubmittersRCV000760911 RCV001206878 RCV003226380 RCV003892688

NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter)

SNV
Germline

Chr16:47689135

Pathogenic/Likely pathogenic

Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Multiple Submitters
No Conflicts

CA8041319

rs_748262135

2 SubmittersRCV000760570 RCV003626639

NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)

SNV
Germline

Chr16:47593521

Pathogenic/Likely pathogenic

Glycogen storage disease IXb
PHKB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8040689

rs_371296953

4 SubmittersRCV000779190 RCV004756034

NM_000293.3(PHKB):c.76+2T>C

SNV
Germline

Chr16:47461428

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396102616

rs_1303617854

1 SubmittersRCV000779188

NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)

SNV
Germline

Chr16:47663682

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
PHKB-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8041141

rs_56010117

5 SubmittersRCV000967414 RCV003960787 RCV004792589 RCV006367498

NM_000293.3(PHKB):c.1574C>A (p.Pro525His)

SNV
Germline

Chr16:47641658

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb
PHKB-related disorder

Criteria Provided
Conflicting Classifications

CA8040884

rs_79509460

4 SubmittersRCV000906905 RCV002065750 RCV003968336

NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)

SNV
Germline

Chr16:47696480

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8041391

rs_375389167

2 SubmittersRCV001040703 RCV002553069

NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)

SNV
Germline

Chr16:47461380

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8040314

rs_760502380

3 SubmittersRCV001121035

NM_000293.3(PHKB):c.2106C>T (p.Thr702=)

SNV
Germline

Chr16:47660729

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA495103919

rs_1248967430

2 SubmittersRCV001117678

NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)

SNV
Germline

Chr16:47660809

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8041086

rs_573384357

2 SubmittersRCV001117679

NM_000293.3(PHKB):c.2197-10A>T

SNV
Germline

Chr16:47661709

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8041109

rs_750018974

2 SubmittersRCV001119246

NM_000293.3(PHKB):c.1364-2A>G

SNV
Germline

Chr16:47610824

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Multiple Submitters
No Conflicts

CA395802450

rs_1972413438

2 SubmittersRCV001293803

NM_000293.3(PHKB):c.1127-2A>G

SNV
Germline

Chr16:47594135

Pathogenic/Likely pathogenic

Glycogen storage disease IXb
PHKB-related disorder
Glycogen phosphorylase kinase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA8040716

rs_535749057

7 SubmittersRCV001808058 RCV003416466 RCV005432798

NM_000293.3(PHKB):c.1797+1G>C

SNV
Germline

Chr16:47649205

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395786363

rs_777714363

1 SubmittersRCV001378963

NM_000293.3(PHKB):c.2427+969C>T

SNV
Germline

Chr16:47665944

Conflicting classifications of pathogenicity

Condition: not provided
Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

CA8041214

rs_1131063

2 SubmittersRCV001752788 RCV002077194

NM_000293.3(PHKB):c.2427+965A>C

SNV
Germline

Chr16:47665940

Pathogenic/Likely pathogenic

Glycogen storage disease IXb
Glycogen phosphorylase kinase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA8041213

rs_761645932

2 SubmittersRCV001957103 RCV002509720

NM_000293.3(PHKB):c.595-1G>A

SNV
Germline

Chr16:47547432

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395787147

rs_2151672494

1 SubmittersRCV002030392

NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter)

SNV
Germline

Chr16:47648612

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395785394

rs_1292721679

1 SubmittersRCV002250228

NM_000293.3(PHKB):c.1972-2A>G

SNV
Germline

Chr16:47660504

Pathogenic/Likely pathogenic

See cases
Glycogen storage disease IXb
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA280216502

rs_964263812

3 SubmittersRCV002253115 RCV003094124 RCV003314723

NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter)

SNV
Germline

Chr16:47596453

Pathogenic

Condition: not provided
Glycogen storage disease IXb
Glycogen phosphorylase kinase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA8040760

rs_563345848

3 SubmittersRCV002273422 RCV003096156 RCV004782913

NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)

SNV
Germline

Chr16:47669410

Pathogenic/Likely pathogenic

Glycogen phosphorylase kinase deficiency
Glycogen storage disease IXb

Criteria Provided
Multiple Submitters
No Conflicts

CA395791529

rs_768885733

2 SubmittersRCV002469968 RCV003775504

NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)

SNV
Germline

Chr16:47693451

Pathogenic

Glycogen phosphorylase kinase deficiency
Glycogen storage disease IXb

Criteria Provided
Multiple Submitters
No Conflicts

CA8041344

rs_763501714

2 SubmittersRCV003226661 RCV003514620

NM_000293.3(PHKB):c.928G>T (p.Glu310Ter)

SNV
Germline

Chr16:47588962

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395795858

rs_2506377426

1 SubmittersRCV003340783

NM_000293.3(PHKB):c.2896-1G>T

SNV
Germline

Chr16:47696380

Pathogenic

PHKB-related disorder
Glycogen storage disease IXb

Criteria Provided
Multiple Submitters
No Conflicts

CA8041374

rs_764133797

2 SubmittersRCV003403028 RCV003514641

NM_000293.3(PHKB):c.405+1G>T

SNV
Germline

Chr16:47503091

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396099131

rs_1314795030

1 SubmittersRCV003448716

NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)

SNV
Germline

Chr16:47497449

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396097662

rs_2548334893

1 SubmittersRCV003514716

NM_000293.3(PHKB):c.1126+1G>T

SNV
Germline

Chr16:47593558

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395797980

rs_1268058356

1 SubmittersRCV003515447

NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)

SNV
Germline

Chr16:47497402

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396097174

rs_769640225

1 SubmittersRCV003515280

NM_000293.3(PHKB):c.1204+1G>T

SNV
Germline

Chr16:47594215

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395798903

rs_1972079641

1 SubmittersRCV003516374

NM_000293.3(PHKB):c.3003+2T>C

SNV
Germline

Chr16:47696490

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396101228

rs_2506732204

1 SubmittersRCV003516601

NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)

SNV
Germline

Chr16:47587749

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395795535

rs_2506372380

1 SubmittersRCV003514793

NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)

SNV
Germline

Chr16:47593520

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395797712

rs_1972066901

1 SubmittersRCV003516095

NM_000293.3(PHKB):c.2427+1G>A

SNV
Germline

Chr16:47664976

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395789882

rs_1290323940

1 SubmittersRCV003626879

NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)

SNV
Germline

Chr16:47693384

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396100378

rs_2506722059

1 SubmittersRCV003626979

NM_000293.3(PHKB):c.1693-2A>G

SNV
Germline

Chr16:47649098

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395785707

rs_2506567176

1 SubmittersRCV003626947

NM_000293.3(PHKB):c.1797+1G>A

SNV
Germline

Chr16:47649205

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA8040957

rs_777714363

1 SubmittersRCV003627073

NM_000293.3(PHKB):c.305+2T>C

SNV
Germline

Chr16:47499896

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA280721441

rs_899519576

1 SubmittersRCV003627082

NM_000293.3(PHKB):c.775-1G>A

SNV
Germline

Chr16:47587667

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395794937

rs_2506371794

1 SubmittersRCV003627883

NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)

SNV
Germline

Chr16:47596398

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395799726

rs_2506401975

1 SubmittersRCV003627891

NM_000293.3(PHKB):c.2895+1G>A

SNV
Germline

Chr16:47693508

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396100799

rs_1191733811

1 SubmittersRCV003628141

NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)

SNV
Germline

Chr16:47580297

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395793336

rs_748242735

1 SubmittersRCV003626346

NM_000293.3(PHKB):c.1364-1G>A

SNV
Germline

Chr16:47610825

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395802465

rs_2506450760

1 SubmittersRCV003627164

NM_000293.3(PHKB):c.77-1G>A

SNV
Germline

Chr16:47497398

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396097143

rs_780885921

1 SubmittersRCV003627319

NM_000293.3(PHKB):c.2427+977C>T

SNV
Germline

Chr16:47665952

Conflicting classifications of pathogenicity

Glycogen storage disease IXb
Mitochondrial disease
not specified

Criteria Provided
Conflicting Classifications

CA8041216

rs_760569328

3 SubmittersRCV003627333 RCV005626854 RCV004701815

NM_000293.3(PHKB):c.3004-2A>G

SNV
Germline

Chr16:47698446

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396101412

rs_1974188923

1 SubmittersRCV003810987

NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)

SNV
Germline

Chr16:47689043

Pathogenic

Glycogen storage disease IXb
Melanoma

Criteria Provided
Single Submitter

CA280738726

rs_1000274245

2 SubmittersRCV003828884 RCV005934982

NM_000293.3(PHKB):c.2278+1G>A

SNV
Germline

Chr16:47661801

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395789372

rs_2506610275

1 SubmittersRCV003836025

NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)

SNV
Germline

Chr16:47511755

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396099496

rs_774068671

1 SubmittersRCV003852849

NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)

SNV
Germline

Chr16:47596425

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395799844

rs_121918021

1 SubmittersRCV003853285

NM_000293.3(PHKB):c.1126+2T>C

SNV
Germline

Chr16:47593559

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA280223675

rs_967041673

1 SubmittersRCV003849472

NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr16:47588977

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395795940

rs_1230727136

1 SubmittersRCV003857374

NM_000293.3(PHKB):c.710+1G>T

SNV
Germline

Chr16:47547549

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA395787716

rs_2506226903

1 SubmittersRCV003860923

NM_000293.3(PHKB):c.1609-2A>C

SNV
Germline

Chr16:47648531

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA8040908

rs_754199774

1 SubmittersRCV003866109

NM_000293.3(PHKB):c.513+2T>A

SNV
Germline

Chr16:47511774

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

CA396099579

rs_2548341056

1 SubmittersRCV003878130

NM_000293.3(PHKB):c.594+1G>A

SNV
Germline

Chr16:47515602

Conflicting classifications of pathogenicity

Glycogen storage disease IXb

Criteria Provided
Conflicting Classifications

rs_2548342446

2 SubmittersRCV004595211

NM_000293.3(PHKB):c.514-1G>C

SNV
Germline

Chr16:47515520

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005015509

NM_000293.3(PHKB):c.1514+2T>A

SNV
Germline

Chr16:47641092

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005015512

NM_000293.3(PHKB):c.2336+2T>C

SNV
Germline

Chr16:47663736

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005015517

NM_000293.3(PHKB):c.2494C>T (p.Gln832Ter)

SNV
Germline

Chr16:47669281

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005015518

NM_000293.3(PHKB):c.2554G>T (p.Glu852Ter)

SNV
Germline

Chr16:47669341

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005065550

NM_000293.3(PHKB):c.2830C>T (p.Arg944Ter)

SNV
Germline

Chr16:47693442

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005064391

NM_000293.3(PHKB):c.1126G>T (p.Gly376Ter)

SNV
Germline

Chr16:47593557

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005071176

NM_000293.3(PHKB):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr16:47511668

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005076773

NM_000293.3(PHKB):c.2766-1G>A

SNV
Germline

Chr16:47693377

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005118599

NM_000293.3(PHKB):c.2765+2T>C

SNV
Germline

Chr16:47689177

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005149775

NM_000293.3(PHKB):c.785G>A (p.Trp262Ter)

SNV
Germline

Chr16:47587678

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005161093

NM_000293.3(PHKB):c.870+1G>T

SNV
Germline

Chr16:47587764

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005172350

NM_000293.3(PHKB):c.2700T>A (p.Tyr900Ter)

SNV
Germline

Chr16:47689110

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005169124

NM_000293.3(PHKB):c.848T>A (p.Leu283Ter)

SNV
Germline

Chr16:47587741

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV005362332

NM_000293.3(PHKB):c.2033+1G>T

SNV
Germline

Chr16:47660568

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV006502181

NM_000293.3(PHKB):c.1514+1G>T

SNV
Germline

Chr16:47641091

Likely pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV006512007

NM_000293.3(PHKB):c.2125G>T (p.Gly709Ter)

SNV
Germline

Chr16:47660748

Pathogenic

Glycogen storage disease IXb

Criteria Provided
Single Submitter

1 SubmittersRCV006515852