ClinVar for MedGen (Select 5342) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24346701.	NM_000289.6(PFKM):c.962T>C (p.Val321Ala) GRCh37: Chr12:48531529 GRCh38: Chr12:48137746	PFKM	V271A, V290A, V292A, V321A, V329A, V369A, V392A, V424A	Glycogen storage disease, type VII	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 24346692.	NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu) GRCh37: Chr12:48539020 GRCh38: Chr12:48145237	PFKM	S657L, S665L, S676L, S678L, S707L, S715L, S755L, S778L, S810L	Glycogen storage disease, type VII	Uncertain significance (Jan 10, 2023)	criteria provided, single submitter
Select item 24346683.	NM_000289.6(PFKM):c.558G>A (p.Met186Ile) GRCh37: Chr12:48527228 GRCh38: Chr12:48133445	PFKM	M136I, M157I, M186I, M194I, M234I, M257I, M289I	Glycogen storage disease, type VII	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 24346674.	NM_000289.6(PFKM):c.2093-33G>C GRCh37: Chr12:48538960 GRCh38: Chr12:48145177	PFKM		Glycogen storage disease, type VII	Uncertain significance (Jul 18, 2019)	criteria provided, single submitter
Select item 24346665.	NM_000289.6(PFKM):c.238-3A>G GRCh37: Chr12:48526648 GRCh38: Chr12:48132865	MIR6505, PFKM		Glycogen storage disease, type VII	Uncertain significance (Nov 8, 2022)	criteria provided, single submitter
Select item 24346656.	NM_000289.6(PFKM):c.1654-54_1654-46del GRCh37: Chr12:48536510-48536518 GRCh38: Chr12:48142727-48142735	PFKM		Glycogen storage disease, type VII	Uncertain significance (Jul 18, 2019)	criteria provided, single submitter
Select item 24287487.	NM_001354741.2(PFKM):c.-81+1966C>T GRCh37: Chr12:48501168 GRCh38: Chr12:48107385	PFKM		Glycogen storage disease, type VII	Likely benign (Nov 23, 2022)	criteria provided, single submitter
Select item 24190158.	NM_000289.6(PFKM):c.1656del (p.Cys553fs) GRCh37: Chr12:48536566 GRCh38: Chr12:48142783	PFKM	C503fs, C511fs, C522fs, C524fs, C553fs, C561fs, C601fs, C624fs, C656fs	Glycogen storage disease, type VII	Pathogenic (Dec 28, 2021)	criteria provided, single submitter
Select item 24176229.	NM_000289.6(PFKM):c.1412+1G>T GRCh37: Chr12:48535165 GRCh38: Chr12:48141382	PFKM		Glycogen storage disease, type VII	Likely pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 241389610.	NM_000289.6(PFKM):c.783T>C (p.Ile261=) GRCh37: Chr12:48528761 GRCh38: Chr12:48134978	PFKM		Glycogen storage disease, type VII	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 241389511.	NM_000289.6(PFKM):c.780_783del (p.Ile260fs) GRCh37: Chr12:48528757-48528760 GRCh38: Chr12:48134974-48134977	PFKM	I210fs, I231fs, I260fs, I268fs, I308fs, I331fs, I363fs	Glycogen storage disease, type VII	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 232370112.	NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu) GRCh37: Chr12:48539475 GRCh38: Chr12:48145692	PFKM	G726E, G734E, G745E, G747E, G776E, G784E, G824E, G847E, G879E	Inborn genetic diseases, Glycogen storage disease, type VII	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220258413.	NM_000289.6(PFKM):c.874C>T (p.Arg292Trp) GRCh37: Chr12:48529104 GRCh38: Chr12:48135321	PFKM	R292W, R300W, R363W, R263W, R242W, R340W, R395W	Inborn genetic diseases, Glycogen storage disease, type VII, not provided	Uncertain significance (Feb 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220190114.	NM_000289.6(PFKM):c.1880+5C>G GRCh37: Chr12:48537602 GRCh38: Chr12:48143819	PFKM		Glycogen storage disease, type VII	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 219902115.	NM_000289.6(PFKM):c.995C>T (p.Pro332Leu) GRCh37: Chr12:48531562 GRCh38: Chr12:48137779	PFKM	P301L, P282L, P380L, P403L, P332L, P340L, P303L, P435L	Glycogen storage disease, type VII	Uncertain significance (Jul 28, 2020)	criteria provided, single submitter
Select item 219773016.	NM_000289.6(PFKM):c.2220G>A (p.Gln740=) GRCh37: Chr12:48539368 GRCh38: Chr12:48145585	PFKM		Glycogen storage disease, type VII	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 219731417.	NM_000289.6(PFKM):c.1918A>G (p.Ile640Val) GRCh37: Chr12:48537866 GRCh38: Chr12:48144083	PFKM	I611V, I688V, I590V, I609V, I598V, I648V, I711V, I743V, I640V	Glycogen storage disease, type VII	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 219648918.	NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn) GRCh37: Chr12:48536682 GRCh38: Chr12:48142899	PFKM	D562N, D599N, D639N, D560N, D591N, D662N, D541N, D549N, D694N	Glycogen storage disease, type VII	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 219618719.	NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter) GRCh37: Chr12:48536718 GRCh38: Chr12:48142935	PFKM	R561, R674, R553, R574, R603, R651, R706, R572, R611*	Glycogen storage disease, type VII	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 219469620.	NM_000289.6(PFKM):c.843+20G>A GRCh37: Chr12:48528841 GRCh38: Chr12:48135058	PFKM		Glycogen storage disease, type VII	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 219466821.	NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn) GRCh37: Chr12:48534506 GRCh38: Chr12:48140723	PFKM	S356N, S367N, S369N, S469N, S348N, S398N, S501N, S406N, S446N	Glycogen storage disease, type VII	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 219362222.	NM_000289.6(PFKM):c.857G>T (p.Arg286Leu) GRCh37: Chr12:48529087 GRCh38: Chr12:48135304	PFKM	R236L, R357L, R286L, R294L, R257L, R334L, R389L	Glycogen storage disease, type VII	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 219292423.	NM_000289.6(PFKM):c.594-14T>A GRCh37: Chr12:48528001 GRCh38: Chr12:48134218	PFKM		Glycogen storage disease, type VII	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 218970724.	NM_000289.6(PFKM):c.431A>C (p.Lys144Thr) GRCh37: Chr12:48527101 GRCh38: Chr12:48133318	PFKM	K115T, K144T, K192T, K215T, K247T, K94T, K152T	Glycogen storage disease, type VII	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 218642625.	NM_000289.6(PFKM):c.883G>A (p.Val295Ile) GRCh37: Chr12:48529113 GRCh38: Chr12:48135330	PFKM	V303I, V343I, V295I, V266I, V245I, V366I, V398I	Glycogen storage disease, type VII	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 218526126.	NM_000289.6(PFKM):c.428-9C>T GRCh37: Chr12:48527089 GRCh38: Chr12:48133306	PFKM		Glycogen storage disease, type VII	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 218473627.	NM_000289.6(PFKM):c.262C>A (p.Arg88=) GRCh37: Chr12:48526675 GRCh38: Chr12:48132892	PFKM		Glycogen storage disease, type VII	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 217805628.	NM_000289.6(PFKM):c.160-13A>G GRCh37: Chr12:48525086 GRCh38: Chr12:48131303	PFKM		Glycogen storage disease, type VII	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 217744729.	NM_000289.6(PFKM):c.2169G>A (p.Val723=) GRCh37: Chr12:48539069 GRCh38: Chr12:48145286	PFKM		Glycogen storage disease, type VII	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 217455430.	NM_000289.6(PFKM):c.1127+19G>A GRCh37: Chr12:48533151 GRCh38: Chr12:48139368	PFKM		Glycogen storage disease, type VII	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 217256531.	NM_000289.6(PFKM):c.1819-9C>G GRCh37: Chr12:48537527 GRCh38: Chr12:48143744	PFKM		Glycogen storage disease, type VII	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 217065432.	NM_000289.6(PFKM):c.594-11A>G GRCh37: Chr12:48528004 GRCh38: Chr12:48134221	PFKM		Glycogen storage disease, type VII	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 216978333.	NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln) GRCh37: Chr12:48536719 GRCh38: Chr12:48142936	PFKM	R553Q, R611Q, R574Q, R674Q, R603Q, R651Q, R706Q, R561Q, R572Q	Glycogen storage disease, type VII	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 216647634.	NM_000289.6(PFKM):c.996A>G (p.Pro332=) GRCh37: Chr12:48531563 GRCh38: Chr12:48137780	PFKM		Glycogen storage disease, type VII	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 216644835.	NM_000289.6(PFKM):c.766C>T (p.Arg256Cys) GRCh37: Chr12:48528744 GRCh38: Chr12:48134961	PFKM	R227C, R256C, R327C, R206C, R264C, R304C, R359C	Glycogen storage disease, type VII	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 216609936.	NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn) GRCh37: Chr12:48533069 GRCh38: Chr12:48139286	PFKM	T403N, T426N, T305N, T355N, T363N, T313N, T324N, T458N, T326N	Glycogen storage disease, type VII	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 216585137.	NM_000289.6(PFKM):c.1127+19G>T GRCh37: Chr12:48533151 GRCh38: Chr12:48139368	PFKM		Glycogen storage disease, type VII	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216525638.	NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn) GRCh37: Chr12:48539435 GRCh38: Chr12:48145652	PFKM	D732N, D763N, D771N, D713N, D811N, D721N, D834N, D866N, D734N	Glycogen storage disease, type VII	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 216382039.	NM_000289.6(PFKM):c.1992+20C>T GRCh37: Chr12:48537960 GRCh38: Chr12:48144177	PFKM		Glycogen storage disease, type VII	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 216310540.	NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys) GRCh37: Chr12:48538907 GRCh38: Chr12:48145124	PFKM	R654C, R665C, R646C, R667C, R744C, R696C, R704C, R799C, R767C	Glycogen storage disease, type VII	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 216180941.	NM_000289.6(PFKM):c.385C>T (p.Arg129Cys) GRCh37: Chr12:48526798 GRCh38: Chr12:48133015	PFKM	R100C, R177C, R129C, R79C, R137C, R200C, R232C	Glycogen storage disease, type VII	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 216161642.	NM_000289.6(PFKM):c.594-20C>T GRCh37: Chr12:48527995 GRCh38: Chr12:48134212	PFKM		Glycogen storage disease, type VII	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 216142243.	NM_000289.6(PFKM):c.757C>T (p.Arg253Cys) GRCh37: Chr12:48528735 GRCh38: Chr12:48134952	PFKM	R253C, R324C, R261C, R203C, R224C, R301C, R356C	Glycogen storage disease, type VII	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 216112444.	NM_000289.6(PFKM):c.799A>G (p.Ile267Val) GRCh37: Chr12:48528777 GRCh38: Chr12:48134994	PFKM	I238V, I370V, I275V, I217V, I267V, I315V, I338V	Glycogen storage disease, type VII	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 216079745.	NM_000289.6(PFKM):c.1034G>A (p.Arg345His) GRCh37: Chr12:48531601 GRCh38: Chr12:48137818	PFKM	R416H, R295H, R314H, R316H, R448H, R393H, R345H, R353H	Glycogen storage disease, type VII	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216071846.	NM_000289.6(PFKM):c.2271T>C (p.Ile757=) GRCh37: Chr12:48539419 GRCh38: Chr12:48145636	PFKM		Glycogen storage disease, type VII	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 215897547.	NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG GRCh37: Chr12:48525177-48525178 GRCh38: Chr12:48131394-48131395	PFKM		Glycogen storage disease, type VII	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 215872948.	NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser) GRCh37: Chr12:48535561 GRCh38: Chr12:48141778	PFKM	N434S, N484S, N587S, N532S, N442S, N453S, N555S, N455S, N492S	Glycogen storage disease, type VII	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 215864349.	NM_000289.6(PFKM):c.1063-10C>T GRCh37: Chr12:48533058 GRCh38: Chr12:48139275	PFKM		Glycogen storage disease, type VII	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 215825850.	NM_000289.6(PFKM):c.1035C>T (p.Arg345=) GRCh37: Chr12:48531602 GRCh38: Chr12:48137819	PFKM		Glycogen storage disease, type VII	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 215778151.	NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp) GRCh37: Chr12:48531595 GRCh38: Chr12:48137812	PFKM	A293D, A446D, A312D, A314D, A343D, A391D, A414D, A351D	Glycogen storage disease, type VII	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 215765352.	NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile) GRCh37: Chr12:48539460 GRCh38: Chr12:48145677	PFKM	T729I, T740I, T771I, T779I, T819I, T842I, T874I, T721I, T742I	Glycogen storage disease, type VII	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215739253.	NM_000289.6(PFKM):c.551G>A (p.Arg184Gln) GRCh37: Chr12:48527221 GRCh38: Chr12:48133438	PFKM	R134Q, R287Q, R155Q, R184Q, R192Q, R255Q, R232Q	Glycogen storage disease, type VII	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 215435254.	NM_000289.6(PFKM):c.1618G>A (p.Val540Ile) GRCh37: Chr12:48535814 GRCh38: Chr12:48142031	PFKM	V498I, V509I, V490I, V548I, V611I, V511I, V588I, V540I, V643I	Glycogen storage disease, type VII	Uncertain significance (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215384755.	NM_000289.6(PFKM):c.1062+1G>A GRCh37: Chr12:48531630 GRCh38: Chr12:48137847	PFKM		Glycogen storage disease, type VII	Likely pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 214859456.	NM_000289.6(PFKM):c.1993-16_1993-15del GRCh37: Chr12:48538797-48538798 GRCh38: Chr12:48145014-48145015	PFKM		Glycogen storage disease, type VII	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 214776057.	NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser) GRCh37: Chr12:48533681 GRCh38: Chr12:48139898	PFKM	P364S, P441S, P464S, P343S, P351S, P401S, P393S, P496S, P362S	Inborn genetic diseases, Glycogen storage disease, type VII	Uncertain significance (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214567858.	NM_000289.6(PFKM):c.1992+14C>T GRCh37: Chr12:48537954 GRCh38: Chr12:48144171	PFKM		Glycogen storage disease, type VII	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 214342759.	NM_000289.6(PFKM):c.1938G>A (p.Glu646=) GRCh37: Chr12:48537886 GRCh38: Chr12:48144103	PFKM		Glycogen storage disease, type VII	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 214258560.	NM_000289.6(PFKM):c.1208T>C (p.Val403Ala) GRCh37: Chr12:48534521 GRCh38: Chr12:48140738	PFKM	V353A, V374A, V361A, V403A, V506A, V372A, V451A, V411A, V474A	Glycogen storage disease, type VII	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 214115361.	NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg) GRCh37: Chr12:48539474 GRCh38: Chr12:48145691	PFKM	G726R, G745R, G776R, G847R, G734R, G747R, G824R, G879R, G784R	Glycogen storage disease, type VII	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 214077962.	NM_000289.6(PFKM):c.133G>A (p.Gly45Ser) GRCh37: Chr12:48524193 GRCh38: Chr12:48130410	PFKM	G148S, G16S, G45S, G116S, G53S, G93S	Glycogen storage disease, type VII	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 214071163.	NM_000289.6(PFKM):c.417C>A (p.Leu139=) GRCh37: Chr12:48526830 GRCh38: Chr12:48133047	PFKM		Glycogen storage disease, type VII	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 213948664.	NM_000289.6(PFKM):c.438A>G (p.Thr146=) GRCh37: Chr12:48527108 GRCh38: Chr12:48133325	PFKM		Glycogen storage disease, type VII	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 213946765.	NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln) GRCh37: Chr12:48539463 GRCh38: Chr12:48145680	PFKM	R875Q, R730Q, R743Q, R780Q, R820Q, R722Q, R741Q, R843Q, R772Q	Glycogen storage disease, type VII	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 213735566.	NM_000289.6(PFKM):c.116G>A (p.Arg39Gln) GRCh37: Chr12:48524176 GRCh38: Chr12:48130393	PFKM	R10Q, R110Q, R47Q, R39Q, R142Q, R87Q	Glycogen storage disease, type VII	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 213487567.	NM_000289.6(PFKM):c.954G>A (p.Val318=) GRCh37: Chr12:48531521 GRCh38: Chr12:48137738	PFKM		Glycogen storage disease, type VII	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 213145168.	NM_000289.6(PFKM):c.160-13A>C GRCh37: Chr12:48525086 GRCh38: Chr12:48131303	PFKM		Glycogen storage disease, type VII	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 213078669.	NM_000289.6(PFKM):c.2199-5T>C GRCh37: Chr12:48539342 GRCh38: Chr12:48145559	PFKM		Glycogen storage disease, type VII	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212970970.	NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln) GRCh37: Chr12:48538898 GRCh38: Chr12:48145115	PFKM	E651Q, E701Q, E741Q, E693Q, E764Q, E664Q, E643Q, E662Q, E796Q	Glycogen storage disease, type VII	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 212575171.	NM_000289.6(PFKM):c.492A>C (p.Ser164=) GRCh37: Chr12:48527162 GRCh38: Chr12:48133379	PFKM		Glycogen storage disease, type VII	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 212530772.	NM_000289.6(PFKM):c.290del (p.Gly97fs) GRCh37: Chr12:48526702 GRCh38: Chr12:48132919	PFKM	G68fs, G97fs, G168fs, G47fs, G105fs, G145fs, G200fs	Glycogen storage disease, type VII	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212494873.	NM_000289.6(PFKM):c.926A>T (p.Asp309Val) GRCh37: Chr12:48529156 GRCh38: Chr12:48135373	PFKM	D412V, D259V, D280V, D317V, D309V, D357V, D380V	Glycogen storage disease, type VII	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212328874.	NM_000289.6(PFKM):c.1826T>C (p.Val609Ala) GRCh37: Chr12:48537543 GRCh38: Chr12:48143760	PFKM	V609A, V617A, V680A, V567A, V578A, V559A, V580A, V657A, V712A	Glycogen storage disease, type VII	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 211982175.	NM_000289.6(PFKM):c.1128-18T>C GRCh37: Chr12:48533614 GRCh38: Chr12:48139831	PFKM		Glycogen storage disease, type VII	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211831376.	NM_000289.6(PFKM):c.2244C>A (p.Ile748=) GRCh37: Chr12:48539392 GRCh38: Chr12:48145609	PFKM		Glycogen storage disease, type VII	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211739277.	NM_000289.6(PFKM):c.1036C>T (p.Leu346=) GRCh37: Chr12:48531603 GRCh38: Chr12:48137820	PFKM		Glycogen storage disease, type VII	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211640378.	NM_000289.6(PFKM):c.867T>C (p.Tyr289=) GRCh37: Chr12:48529097 GRCh38: Chr12:48135314	PFKM		Glycogen storage disease, type VII	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 211267779.	NM_000289.6(PFKM):c.639-8C>T GRCh37: Chr12:48528496 GRCh38: Chr12:48134713	PFKM		Glycogen storage disease, type VII	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 211032480.	NM_000289.6(PFKM):c.2253C>G (p.Ile751Met) GRCh37: Chr12:48539401 GRCh38: Chr12:48145618	PFKM	I751M, I854M, I701M, I720M, I759M, I722M, I822M, I709M, I799M	Glycogen storage disease, type VII	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210848281.	NM_000289.6(PFKM):c.531C>A (p.Gly177=) GRCh37: Chr12:48527201 GRCh38: Chr12:48133418	PFKM		Glycogen storage disease, type VII	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 210779782.	NM_000289.6(PFKM):c.1725C>T (p.Gly575=) GRCh37: Chr12:48536636 GRCh38: Chr12:48142853	PFKM		Glycogen storage disease, type VII	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210571283.	NM_000289.6(PFKM):c.936+2T>G GRCh37: Chr12:48529168 GRCh38: Chr12:48135385	PFKM		Glycogen storage disease, type VII	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 210226184.	NM_000289.6(PFKM):c.873C>A (p.Thr291=) GRCh37: Chr12:48529103 GRCh38: Chr12:48135320	PFKM		Glycogen storage disease, type VII	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209586585.	NM_000289.6(PFKM):c.1896T>C (p.Asn632=) GRCh37: Chr12:48537844 GRCh38: Chr12:48144061	PFKM		Glycogen storage disease, type VII	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 208753486.	NM_000289.6(PFKM):c.720G>A (p.Glu240=) GRCh37: Chr12:48528585 GRCh38: Chr12:48134802	PFKM		Glycogen storage disease, type VII	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 207908687.	NM_000289.6(PFKM):c.2184C>T (p.Asp728=) GRCh37: Chr12:48539084 GRCh38: Chr12:48145301	PFKM		Glycogen storage disease, type VII	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 207837788.	NM_000289.6(PFKM):c.2092+20G>A GRCh37: Chr12:48538933 GRCh38: Chr12:48145150	PFKM		Glycogen storage disease, type VII	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 207814789.	NM_000289.6(PFKM):c.1063-5del GRCh37: Chr12:48533058 GRCh38: Chr12:48139275	PFKM		Glycogen storage disease, type VII	Benign (Jan 10, 2022)	criteria provided, single submitter
Select item 207583190.	NM_000289.6(PFKM):c.638+4A>G GRCh37: Chr12:48528063 GRCh38: Chr12:48134280	PFKM		Glycogen storage disease, type VII	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 207543291.	NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg) GRCh37: Chr12:48535549 GRCh38: Chr12:48141766	PFKM	Q449R, Q451R, Q551R, Q430R, Q528R, Q438R, Q480R, Q488R, Q583R	Glycogen storage disease, type VII	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 207522592.	NM_000289.6(PFKM):c.1127+6G>T GRCh37: Chr12:48533138 GRCh38: Chr12:48139355	PFKM		Glycogen storage disease, type VII	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 207279293.	NM_000289.6(PFKM):c.86G>A (p.Gly29Asp) GRCh37: Chr12:48524146 GRCh38: Chr12:48130363	PFKM	G100D, G132D, G29D, G37D, G77D	Glycogen storage disease, type VII	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207275494.	NM_000289.6(PFKM):c.1341+1G>C GRCh37: Chr12:48534655 GRCh38: Chr12:48140872	PFKM		Glycogen storage disease, type VII	Likely pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 207268295.	NM_000289.6(PFKM):c.1742C>T (p.Ala581Val) GRCh37: Chr12:48536653 GRCh38: Chr12:48142870	PFKM	A550V, A531V, A539V, A552V, A581V, A652V, A589V, A629V, A684V	Inborn genetic diseases, Glycogen storage disease, type VII	Uncertain significance (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207071996.	NM_000289.6(PFKM):c.1880+19G>C GRCh37: Chr12:48537616 GRCh38: Chr12:48143833	PFKM		Glycogen storage disease, type VII	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 206945297.	NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe) GRCh37: Chr12:48535551 GRCh38: Chr12:48141768	PFKM	I439F, I489F, I431F, I481F, I552F, I584F, I452F, I529F, I450F	Glycogen storage disease, type VII	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 206798398.	NM_000289.6(PFKM):c.872C>G (p.Thr291Ser) GRCh37: Chr12:48529102 GRCh38: Chr12:48135319	PFKM	T339S, T291S, T241S, T299S, T362S, T394S, T262S	Glycogen storage disease, type VII	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 206771199.	NM_000289.6(PFKM):c.1413-19G>A GRCh37: Chr12:48535504 GRCh38: Chr12:48141721	PFKM		Glycogen storage disease, type VII	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 2066447100.	NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp) GRCh37: Chr12:48538874 GRCh38: Chr12:48145091	PFKM	N643D, N656D, N733D, N756D, N654D, N685D, N693D, N635D, N788D	Glycogen storage disease, type VII	Uncertain significance (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts

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