ClinVar for MedGen (Select 442778) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24347021.	NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser) GRCh37: Chr16:30767995 GRCh38: Chr16:30756674	PHKG2	G296S	Glycogen storage disease IXc	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 24196042.	NM_000294.3(PHKG2):c.696C>G (p.Pro232=) GRCh37: Chr16:30767736 GRCh38: Chr16:30756415	PHKG2		Glycogen storage disease IXc	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 24162043.	NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln) GRCh37: Chr16:30764558 GRCh38: Chr16:30753237	PHKG2	R111Q	Glycogen storage disease IXc	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 22012444.	NM_000294.3(PHKG2):c.802-16T>C GRCh37: Chr16:30767895 GRCh38: Chr16:30756574	PHKG2		Glycogen storage disease IXc	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 21790495.	NM_000294.3(PHKG2):c.124G>A (p.Val42Ile) GRCh37: Chr16:30762455 GRCh38: Chr16:30751134	PHKG2	V42I	Glycogen storage disease IXc	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 21711236.	NM_000294.3(PHKG2):c.1050C>A (p.Ile350=) GRCh37: Chr16:30768247 GRCh38: Chr16:30756926	PHKG2		Glycogen storage disease IXc	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 21461447.	NM_000294.3(PHKG2):c.245G>A (p.Arg82His) GRCh37: Chr16:30762576 GRCh38: Chr16:30751255	PHKG2	R82H	Glycogen storage disease IXc	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 21431668.	NM_000294.3(PHKG2):c.116G>A (p.Arg39His) GRCh37: Chr16:30762447 GRCh38: Chr16:30751126	PHKG2	R39H	Glycogen storage disease IXc	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 21265689.	NM_000294.3(PHKG2):c.767del (p.Glu256fs) GRCh37: Chr16:30767807 GRCh38: Chr16:30756486	PHKG2	E256fs	Glycogen storage disease IXc	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 207090310.	NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln) GRCh37: Chr16:30768183 GRCh38: Chr16:30756862	PHKG2	R329Q	Glycogen storage disease IXc	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 205651211.	NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys) GRCh37: Chr16:30767822 GRCh38: Chr16:30756501	PHKG2	S261C	Glycogen storage disease IXc	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 202357012.	NM_000294.3(PHKG2):c.827del (p.Pro276fs) GRCh37: Chr16:30767935 GRCh38: Chr16:30756614	PHKG2	P276fs	Glycogen storage disease IXc	Pathogenic (Aug 11, 2022)	criteria provided, single submitter
Select item 202356913.	NM_000294.3(PHKG2):c.648-2_648del GRCh37: Chr16:30767685-30767687 GRCh38: Chr16:30756364-30756366	PHKG2		Glycogen storage disease IXc	Pathogenic (Aug 11, 2022)	criteria provided, single submitter
Select item 202074914.	NM_000294.3(PHKG2):c.334_337del (p.Lys112fs) GRCh37: Chr16:30764558-30764561 GRCh38: Chr16:30753237-30753240	PHKG2	K112fs	Glycogen storage disease IXc	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 198390815.	NM_000294.3(PHKG2):c.928-8C>G GRCh37: Chr16:30768117 GRCh38: Chr16:30756796	PHKG2		Glycogen storage disease IXc	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 192268216.	NM_000294.3(PHKG2):c.908C>G (p.Thr303Ser) GRCh37: Chr16:30768017 GRCh38: Chr16:30756696	PHKG2	T303S	Glycogen storage disease IXc	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 171453517.	NM_000294.3(PHKG2):c.235C>T (p.His79Tyr) GRCh37: Chr16:30762566 GRCh38: Chr16:30751245	PHKG2	H79Y	Glycogen storage disease IXc	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 170567018.	NM_000294.3(PHKG2):c.802-2A>C GRCh37: Chr16:30767909 GRCh38: Chr16:30756588	PHKG2		Glycogen storage disease IXc	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 168751819.	NM_000294.3(PHKG2):c.800_801+34del GRCh37: Chr16:30767838-30767873 GRCh38: Chr16:30756517-30756552	PHKG2		Glycogen storage disease IXc	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168606220.	NM_000294.3(PHKG2):c.927+1G>A GRCh37: Chr16:30768037 GRCh38: Chr16:30756716	PHKG2		Glycogen storage disease IXc	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168540321.	NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys) GRCh37: Chr16:30767944 GRCh38: Chr16:30756623	PHKG2	R279C	Glycogen storage disease IXc, not provided	Likely pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165534722.	NM_000294.3(PHKG2):c.801+18G>A GRCh37: Chr16:30767859 GRCh38: Chr16:30756538	PHKG2		Glycogen storage disease IXc	Likely benign (Oct 9, 2021)	criteria provided, single submitter
Select item 161369523.	NM_000294.3(PHKG2):c.1031G>A (p.Arg344Gln) GRCh37: Chr16:30768228 GRCh38: Chr16:30756907	PHKG2	R344Q	not provided, Glycogen storage disease IXc	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 159442524.	NM_000294.3(PHKG2):c.1071C>G (p.Leu357=) GRCh37: Chr16:30768268 GRCh38: Chr16:30756947	PHKG2		Glycogen storage disease IXc	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 159093325.	NM_000294.3(PHKG2):c.516C>T (p.Phe172=) GRCh37: Chr16:30764838 GRCh38: Chr16:30753517	PHKG2		Glycogen storage disease IXc	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 155636226.	NM_000294.3(PHKG2):c.393-4C>T GRCh37: Chr16:30764711 GRCh38: Chr16:30753390	PHKG2		Glycogen storage disease IXc	Likely benign (Aug 20, 2021)	criteria provided, single submitter
Select item 153764927.	NM_000294.3(PHKG2):c.153G>A (p.Ala51=) GRCh37: Chr16:30762484 GRCh38: Chr16:30751163	PHKG2		Glycogen storage disease IXc	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 152623728.	NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del) GRCh37: Chr16:30767581-30767583 GRCh38: Chr16:30756260-30756262	PHKG2	E213del	Glycogen storage disease IXc	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 148321429.	NM_000294.3(PHKG2):c.913dup (p.Arg305fs) GRCh37: Chr16:30768016-30768017 GRCh38: Chr16:30756695-30756696	PHKG2	R305fs	Glycogen storage disease IXc	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 147710230.	NM_000294.3(PHKG2):c.907A>C (p.Thr303Pro) GRCh37: Chr16:30768016 GRCh38: Chr16:30756695	PHKG2	T303P	Glycogen storage disease IXc	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 145907731.	NM_000294.3(PHKG2):c.502C>T (p.Arg168Ter) GRCh37: Chr16:30764824 GRCh38: Chr16:30753503	PHKG2	R168*	Glycogen storage disease IXc	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 145330032.	NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter) GRCh37: Chr16:30762557 GRCh38: Chr16:30751236	PHKG2	R76*	Glycogen storage disease IXc	Pathogenic (Sep 3, 2021)	criteria provided, single submitter
Select item 143556033.	NM_000294.3(PHKG2):c.152C>T (p.Ala51Val) GRCh37: Chr16:30762483 GRCh38: Chr16:30751162	PHKG2	A51V	Glycogen storage disease IXc	Uncertain significance (Oct 24, 2021)	criteria provided, single submitter
Select item 143197234.	NM_000294.3(PHKG2):c.353A>G (p.Tyr118Cys) GRCh37: Chr16:30764579 GRCh38: Chr16:30753258	PHKG2	Y118C	Glycogen storage disease IXc	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 136773435.	NM_000294.3(PHKG2):c.1147C>T (p.Pro383Ser) GRCh37: Chr16:30768344 GRCh38: Chr16:30757023	PHKG2	P383S	Glycogen storage disease IXc	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 133917636.	NM_000294.3(PHKG2):c.836G>A (p.Arg279His) GRCh37: Chr16:30767945 GRCh38: Chr16:30756624	PHKG2	R279H	Glycogen storage disease IXc	Uncertain significance	criteria provided, single submitter
Select item 110680137.	NM_000294.3(PHKG2):c.1035A>G (p.Ser345=) GRCh37: Chr16:30768232 GRCh38: Chr16:30756911	PHKG2		Glycogen storage disease IXc	Likely benign (Nov 18, 2019)	criteria provided, single submitter
Select item 110212538.	NM_000294.3(PHKG2):c.864C>T (p.His288=) GRCh37: Chr16:30767973 GRCh38: Chr16:30756652	PHKG2		Glycogen storage disease IXc	Likely benign (May 1, 2019)	criteria provided, single submitter
Select item 107214439.	NM_000294.3(PHKG2):c.557-1_557delinsAG GRCh37: Chr16:30767502-30767503 GRCh38: Chr16:30756181-30756182	PHKG2		Glycogen storage disease IXc	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 106697440.	NM_000294.3(PHKG2):c.96-11G>A GRCh37: Chr16:30762416 GRCh38: Chr16:30751095	PHKG2		Glycogen storage disease IXc	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 103229741.	NM_000294.3(PHKG2):c.927+13G>A GRCh37: Chr16:30768049 GRCh38: Chr16:30756728	PHKG2		Glycogen storage disease IXc	Uncertain significance (Oct 11, 2018)	criteria provided, single submitter
Select item 103229642.	NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile) GRCh37: Chr16:30767592 GRCh38: Chr16:30756271	PHKG2	L216I	Glycogen storage disease IXc	Uncertain significance (Jul 16, 2018)	criteria provided, single submitter
Select item 102977943.	NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp) GRCh37: Chr16:30768182 GRCh38: Chr16:30756861	PHKG2	R329W	Inborn genetic diseases, Glycogen storage disease IXc	Uncertain significance (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99811944.	NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) GRCh37: Chr16:30767589 GRCh38: Chr16:30756268	PHKG2	D215N	Glycogen storage disease IXc, not specified	Conflicting interpretations of pathogenicity (Jul 22, 2021)	criteria provided, conflicting interpretations
Select item 99811845.	NM_000294.3(PHKG2):c.539del (p.Pro180fs) GRCh37: Chr16:30764860 GRCh38: Chr16:30753539	PHKG2	P180fs	Glycogen storage disease IXc	Pathogenic (Aug 27, 2020)	criteria provided, single submitter
Select item 99811746.	NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) GRCh37: Chr16:30762560 GRCh38: Chr16:30751239	PHKG2	E77K	Glycogen storage disease IXc	Pathogenic/Likely pathogenic (Aug 27, 2020)	criteria provided, multiple submitters, no conflicts
Select item 97201547.	NM_000294.3(PHKG2):c.1184C>T (p.Ala395Val) GRCh37: Chr16:30768381 GRCh38: Chr16:30757060	PHKG2	A395V	Inborn genetic diseases, Glycogen storage disease IXc	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96294248.	NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro) GRCh37: Chr16:30764753 GRCh38: Chr16:30753432	PHKG2	L144P	Glycogen storage disease IXc	Conflicting interpretations of pathogenicity (Sep 17, 2021)	criteria provided, conflicting interpretations
Select item 95365149.	NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter) GRCh37: Chr16:30767785 GRCh38: Chr16:30756464	PHKG2	Q249*	Glycogen storage disease IXc	Pathogenic (Nov 4, 2019)	criteria provided, single submitter
Select item 94801450.	NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp) GRCh37: Chr16:30768227 GRCh38: Chr16:30756906	PHKG2	R344W	Glycogen storage disease IXc	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 94747051.	NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter) GRCh37: Chr16:30760163 GRCh38: Chr16:30748842	PHKG2	E8*	Glycogen storage disease IXc	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94746952.	NM_000294.3(PHKG2):c.158_160del (p.Lys53del) GRCh37: Chr16:30762487-30762489 GRCh38: Chr16:30751166-30751168	PHKG2	K53del	Glycogen storage disease IXc	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 94612053.	NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser) GRCh37: Chr16:30764863 GRCh38: Chr16:30753542	PHKG2	G181S	Glycogen storage disease IXc	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 94325454.	NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) GRCh37: Chr16:30762458 GRCh38: Chr16:30751137	PHKG2	H43Y	Glycogen storage disease IXc	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93922455.	NM_000294.3(PHKG2):c.271+6G>A GRCh37: Chr16:30762608 GRCh38: Chr16:30751287	PHKG2		Glycogen storage disease IXc	Uncertain significance (Jun 4, 2019)	criteria provided, single submitter
Select item 88849256.	NM_000294.3(PHKG2):c.556+11C>G GRCh37: Chr16:30764889 GRCh38: Chr16:30753568	PHKG2		Glycogen storage disease IXc	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88723857.	NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser) GRCh37: Chr16:30762470 GRCh38: Chr16:30751149	PHKG2	G47S	Glycogen storage disease IXc	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 88723758.	NM_000294.3(PHKG2):c.96-7C>G GRCh37: Chr16:30762420 GRCh38: Chr16:30751099	PHKG2		Glycogen storage disease IXc	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 88630759.	NM_000294.3(PHKG2):c.*47G>A GRCh37: Chr16:30768465 GRCh38: Chr16:30757144	PHKG2		Glycogen storage disease IXc	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88630660.	NM_000294.3(PHKG2):c.*22C>T GRCh37: Chr16:30768440 GRCh38: Chr16:30757119	PHKG2		Glycogen storage disease IXc	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88623661.	NM_000294.3(PHKG2):c.-3A>G GRCh37: Chr16:30760139 GRCh38: Chr16:30748818	PHKG2		Glycogen storage disease IXc	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88623562.	NM_000294.3(PHKG2):c.-76G>C GRCh37: Chr16:30759754 GRCh38: Chr16:30748433	PHKG2		Glycogen storage disease IXc	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88623463.	NM_000294.2(PHKG2):c.-118G>A GRCh37: Chr16:30759712 GRCh38: Chr16:30748391	PHKG2		Glycogen storage disease IXc	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88532764.	NM_000294.2(PHKG2):c.-162C>T GRCh37: Chr16:30759668 GRCh38: Chr16:30748347	PHKG2		Glycogen storage disease IXc	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88427165.	NM_000294.3(PHKG2):c.1077G>A (p.Gly359=) GRCh37: Chr16:30768274 GRCh38: Chr16:30756953	PHKG2		Glycogen storage disease IXc	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88427066.	NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp) GRCh37: Chr16:30768251 GRCh38: Chr16:30756930	PHKG2	N352D	Glycogen storage disease IXc	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88426967.	NM_000294.3(PHKG2):c.608T>C (p.Met203Thr) GRCh37: Chr16:30767554 GRCh38: Chr16:30756233	PHKG2	M203T	Glycogen storage disease IXc	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 84047968.	NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) GRCh37: Chr16:30768155 GRCh38: Chr16:30756834	PHKG2	R320*	Glycogen storage disease IXc	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 83421869.	NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln) GRCh37: Chr16:30768156 GRCh38: Chr16:30756835	PHKG2	R320Q	Glycogen storage disease IXc	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 80325170.	NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) GRCh37: Chr16:30768267 GRCh38: Chr16:30756946	PHKG2	L357P	Glycogen storage disease IXc	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80325071.	NM_000294.3(PHKG2):c.657del (p.Cys219fs) GRCh37: Chr16:30767697 GRCh38: Chr16:30756376	PHKG2	C219fs	Glycogen storage disease IXc	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 78120572.	NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) GRCh37: Chr16:30762587 GRCh38: Chr16:30751266	PHKG2	G86S	Glycogen storage disease IXc, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 69464373.	NM_000294.3(PHKG2):c.661G>A (p.Val221Met) GRCh37: Chr16:30767701 GRCh38: Chr16:30756380	PHKG2	V221M	Glycogen storage disease IXc	Likely pathogenic (Nov 11, 2019)	no assertion criteria provided
Select item 69464274.	NM_000294.3(PHKG2):c.783del (p.Ser262fs) GRCh37: Chr16:30767822 GRCh38: Chr16:30756501	PHKG2	S262fs	Glycogen storage disease IXc	Pathogenic (Nov 11, 2019)	no assertion criteria provided
Select item 66239775.	NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys) GRCh37: Chr16:30762575 GRCh38: Chr16:30751254	PHKG2	R82C	Glycogen storage disease IXc	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 64741176.	NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) GRCh37: Chr16:30762558 GRCh38: Chr16:30751237	PHKG2	R76Q	Inborn genetic diseases, Glycogen storage disease IXc	Uncertain significance (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64698377.	NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys) GRCh37: Chr16:30760212 GRCh38: Chr16:30748891	PHKG2	Y24C	Glycogen storage disease IXc	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 63998078.	NM_000294.3(PHKG2):c.911C>A (p.Pro304His) GRCh37: Chr16:30768020 GRCh38: Chr16:30756699	PHKG2	P304H	Glycogen storage disease IXc	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 62336579.	NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) GRCh37: Chr16:30764791 GRCh38: Chr16:30753470	PHKG2	E157K	Glycogen storage disease IXc	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 58330980.	NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) GRCh37: Chr16:30762555 GRCh38: Chr16:30751234	PHKG2	R75Q	Glycogen storage disease IXc	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57756881.	NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) GRCh37: Chr16:30764875 GRCh38: Chr16:30753554	PHKG2	R185*	Glycogen storage disease type IXc, Glycogen storage disease IXc	Pathogenic (May 17, 2018)	criteria provided, multiple submitters, no conflicts
Select item 57651482.	NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) GRCh37: Chr16:30768016 GRCh38: Chr16:30756695	PHKG2	T303A	Glycogen storage disease IXc	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 57317483.	NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) GRCh37: Chr16:30768029 GRCh38: Chr16:30756708	PHKG2	R307Q	Glycogen storage disease IXc	Uncertain significance (Aug 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 56639984.	NM_000294.3(PHKG2):c.250del (p.Val84fs) GRCh37: Chr16:30762580 GRCh38: Chr16:30751259	PHKG2	V84fs	Glycogen storage disease IXc	Pathogenic (Apr 25, 2018)	criteria provided, single submitter
Select item 53817385.	NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer) GRCh37: Chr16:30762914-30762915 GRCh38: Chr16:30751593-30751594	PHKG2		Glycogen storage disease IXc	Pathogenic (Dec 17, 2017)	criteria provided, single submitter
Select item 53817286.	NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) GRCh37: Chr16:30767711-30767712 GRCh38: Chr16:30756390-30756391	PHKG2	F224*	Glycogen storage disease IXc	Pathogenic (Nov 12, 2017)	criteria provided, single submitter
Select item 53817187.	NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) GRCh37: Chr16:30762584 GRCh38: Chr16:30751263	PHKG2	A85T	not provided, Glycogen storage disease IXc	Uncertain significance (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 53817088.	NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) GRCh37: Chr16:30762545 GRCh38: Chr16:30751224	PHKG2	E72K	Glycogen storage disease IXc	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 50632089.	NM_000294.3(PHKG2):c.1026G>A (p.Ala342=) GRCh37: Chr16:30768223 GRCh38: Chr16:30756902	PHKG2		not specified, Glycogen storage disease IXc	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47072890.	NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) GRCh37: Chr16:30768248 GRCh38: Chr16:30756927	PHKG2	D351N	not provided, Glycogen storage disease IXc	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 38979491.	NM_000294.3(PHKG2):c.802-17C>T GRCh37: Chr16:30767894 GRCh38: Chr16:30756573	PHKG2		Glycogen storage disease IXc, not specified	Benign/Likely benign (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38864692.	NM_000294.3(PHKG2):c.360A>G (p.Thr120=) GRCh37: Chr16:30764586 GRCh38: Chr16:30753265	PHKG2		not specified, not provided, Glycogen storage disease IXc	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 38628193.	NM_000294.3(PHKG2):c.921G>T (p.Arg307=) GRCh37: Chr16:30768030 GRCh38: Chr16:30756709	PHKG2		Glycogen storage disease IXc, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 38120094.	NM_000294.3(PHKG2):c.927+17C>G GRCh37: Chr16:30768053 GRCh38: Chr16:30756732	PHKG2		not provided, Glycogen storage disease IXc	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31894295.	NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr) GRCh37: Chr16:30768377 GRCh38: Chr16:30757056	PHKG2	A394T	Glycogen storage disease IXc	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31894196.	NM_000294.3(PHKG2):c.928-9C>G GRCh37: Chr16:30768116 GRCh38: Chr16:30756795	PHKG2		Glycogen storage disease IXc	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31894097.	NM_000294.3(PHKG2):c.556+5G>T GRCh37: Chr16:30764883 GRCh38: Chr16:30753562	PHKG2		Glycogen storage disease IXc	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31893898.	NM_000294.3(PHKG2):c.448G>A (p.Val150Met) GRCh37: Chr16:30764770 GRCh38: Chr16:30753449	PHKG2	V150M	Glycogen storage disease IXc	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31893799.	NM_000294.3(PHKG2):c.393G>A (p.Arg131=) GRCh37: Chr16:30764715 GRCh38: Chr16:30753394	PHKG2		Glycogen storage disease IXc, not provided	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 318936100.	NM_000294.3(PHKG2):c.324C>T (p.Asp108=) GRCh37: Chr16:30762922 GRCh38: Chr16:30751601	PHKG2		not specified, Glycogen storage disease IXc, not provided	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations

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