ClinVar for MedGen (Select 854172) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 255

<< First< Prev

Page of 3

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25002561.	NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter) GRCh37: ChrX:18927030 GRCh38: ChrX:18908912	PHKA2	W750*	Glycogen storage disease IXa1	Likely pathogenic (Jan 11, 2023)	criteria provided, single submitter
Select item 24444162.	NM_000292.3(PHKA2):c.717+1G>A GRCh37: ChrX:18961827 GRCh38: ChrX:18943709	PHKA2		Glycogen storage disease IXa1	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24441903.	NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp) GRCh37: ChrX:18913256 GRCh38: ChrX:18895138	PHKA2	E1112D	Glycogen storage disease IXa1	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24421354.	NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser) GRCh37: ChrX:18942210 GRCh38: ChrX:18924092	PHKA2	I586S	Glycogen storage disease IXa1	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 24346995.	NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro) GRCh37: ChrX:18956827 GRCh38: ChrX:18938709	PHKA2	L320P	Glycogen storage disease IXa1	Uncertain significance (Apr 29, 2019)	criteria provided, single submitter
Select item 24346986.	NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys) GRCh37: ChrX:18936961 GRCh38: ChrX:18918843	PHKA2	E659K	Glycogen storage disease IXa1	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 24346977.	NM_000292.3(PHKA2):c.488C>T (p.Ala163Val) GRCh37: ChrX:18966911 GRCh38: ChrX:18948793	PHKA2	A163V	Glycogen storage disease IXa1	Uncertain significance (Apr 26, 2021)	criteria provided, single submitter
Select item 24228238.	NC_000023.10:g.(?_18925998)_(18929098_?)del GRCh37: ChrX:18925998-18929098	PHKA2		Glycogen storage disease IXa1	Pathogenic (Jun 26, 2022)	criteria provided, single submitter
Select item 21999989.	NM_000292.3(PHKA2):c.44C>T (p.Ala15Val) GRCh37: ChrX:19002007 GRCh38: ChrX:18983889	PHKA2	A15V	Glycogen storage disease IXa1	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 219292710.	NM_000292.3(PHKA2):c.3282+8G>A GRCh37: ChrX:18915273 GRCh38: ChrX:18897155	PHKA2		Glycogen storage disease IXa1	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 217990111.	NM_000292.3(PHKA2):c.3492G>A (p.Val1164=) GRCh37: ChrX:18912367 GRCh38: ChrX:18894249	PHKA2, PHKA2-AS1		Glycogen storage disease IXa1	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 216805012.	NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys) GRCh37: ChrX:18915358 GRCh38: ChrX:18897240	PHKA2	R1069C	Glycogen storage disease IXa1	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 216303813.	NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr) GRCh37: ChrX:18943863 GRCh38: ChrX:18925745	PHKA2	P498T	Glycogen storage disease IXa1	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 216103414.	NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met) GRCh37: ChrX:18915389 GRCh38: ChrX:18897271	PHKA2	I1058M	Glycogen storage disease IXa1	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 215931315.	NM_000292.3(PHKA2):c.3282+15G>A GRCh37: ChrX:18915266 GRCh38: ChrX:18897148	PHKA2		Glycogen storage disease IXa1	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 215616716.	NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=) GRCh37: ChrX:18949783 GRCh38: ChrX:18931665	PHKA2		Glycogen storage disease IXa1	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 215426417.	NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile) GRCh37: ChrX:18919661 GRCh38: ChrX:18901543	PHKA2	T990I	Glycogen storage disease IXa1	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 215085718.	NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile) GRCh37: ChrX:18942558 GRCh38: ChrX:18924440	PHKA2	T552I	Glycogen storage disease IXa1	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214280919.	NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu) GRCh37: ChrX:18915405 GRCh38: ChrX:18897287	PHKA2	S1053L	Glycogen storage disease IXa1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 214137720.	NM_000292.3(PHKA2):c.1137+17G>A GRCh37: ChrX:18954156 GRCh38: ChrX:18936038	PHKA2		Glycogen storage disease IXa1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 213954521.	NM_000292.3(PHKA2):c.2807-11T>C GRCh37: ChrX:18923988 GRCh38: ChrX:18905870	PHKA2		Glycogen storage disease IXa1	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 213848422.	NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter) GRCh37: ChrX:18949830 GRCh38: ChrX:18931712	PHKA2	R392*	Glycogen storage disease IXa1	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 213848323.	NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu) GRCh37: ChrX:18924930 GRCh38: ChrX:18906812	PHKA2	P867L	Glycogen storage disease IXa1	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 210195724.	NM_000292.3(PHKA2):c.1420C>T (p.Gln474Ter) GRCh37: ChrX:18944610 GRCh38: ChrX:18926492	PHKA2	Q474*	Glycogen storage disease IXa1	Pathogenic (May 6, 2022)	criteria provided, single submitter
Select item 208904525.	NM_000292.3(PHKA2):c.286-15T>A GRCh37: ChrX:18969405 GRCh38: ChrX:18951287	PHKA2		Glycogen storage disease IXa1	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 207414826.	NM_000292.3(PHKA2):c.858G>A (p.Lys286=) GRCh37: ChrX:18959653 GRCh38: ChrX:18941535	PHKA2		Glycogen storage disease IXa1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 206928427.	NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=) GRCh37: ChrX:18912352 GRCh38: ChrX:18894234	PHKA2, PHKA2-AS1		Glycogen storage disease IXa1	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 206641528.	NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg) GRCh37: ChrX:18926137 GRCh38: ChrX:18908019	PHKA2	G800R	Glycogen storage disease IXa1	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 206575129.	NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=) GRCh37: ChrX:18915404 GRCh38: ChrX:18897286	PHKA2		Glycogen storage disease IXa1	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206105430.	NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys) GRCh37: ChrX:18912471 GRCh38: ChrX:18894353	PHKA2, PHKA2-AS1	R1130C	Glycogen storage disease IXa1	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 205914831.	NM_000292.3(PHKA2):c.2146A>G (p.Met716Val) GRCh37: ChrX:18929070 GRCh38: ChrX:18910952	PHKA2	M716V	Glycogen storage disease IXa1	Benign (Mar 15, 2022)	criteria provided, single submitter
Select item 205567732.	NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp) GRCh37: ChrX:18925155 GRCh38: ChrX:18907037	PHKA2	R860W	Glycogen storage disease IXa1	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 205221233.	NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp) GRCh37: ChrX:18943893 GRCh38: ChrX:18925775	PHKA2	R488W	Glycogen storage disease IXa1	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 202810734.	NM_000292.3(PHKA2):c.1794-8_1794-6del GRCh37: ChrX:18938325-18938327 GRCh38: ChrX:18920207-18920209	PHKA2		Glycogen storage disease IXa1	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 200812635.	NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg) GRCh37: ChrX:18972391 GRCh38: ChrX:18954273	PHKA2	K73R	Glycogen storage disease IXa1	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 199560736.	NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro) GRCh37: ChrX:18912449 GRCh38: ChrX:18894331	PHKA2, PHKA2-AS1	R1137P	Glycogen storage disease IXa1	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 193756437.	NM_000292.3(PHKA2):c.1715-14C>T GRCh37: ChrX:18942266 GRCh38: ChrX:18924148	PHKA2		Glycogen storage disease IXa1	Benign (Sep 10, 2022)	criteria provided, single submitter
Select item 192682038.	NM_000292.3(PHKA2):c.3027+8C>A GRCh37: ChrX:18919595 GRCh38: ChrX:18901477	PHKA2		Glycogen storage disease IXa1	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 181040039.	NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter) GRCh37: ChrX:18936967 GRCh38: ChrX:18918849	PHKA2	Q657*	Glycogen storage disease IXa1	Pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 172226140.	NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr) GRCh37: ChrX:18913308 GRCh38: ChrX:18895190	PHKA2	C1095Y	Glycogen storage disease IXa1	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 171787041.	NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg) GRCh37: ChrX:18912343 GRCh38: ChrX:18894225	PHKA2, PHKA2-AS1	S1172R	Glycogen storage disease IXa1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 171678342.	NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile) GRCh37: ChrX:18949836 GRCh38: ChrX:18931718	PHKA2	V390I	Glycogen storage disease IXa1	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 170940443.	NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu) GRCh37: ChrX:18959790 GRCh38: ChrX:18941672	PHKA2	I241L	Glycogen storage disease IXa1	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 170319644.	NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter) GRCh37: ChrX:18958139 GRCh38: ChrX:18940021	PHKA2	R298*	Glycogen storage disease IXa1	Likely pathogenic (Jul 13, 2022)	no assertion criteria provided
Select item 168606045.	NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter) GRCh37: ChrX:18949794 GRCh38: ChrX:18931676	PHKA2	Q404*	Glycogen storage disease IXa1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168605946.	NM_000292.3(PHKA2):c.1324+1G>A GRCh37: ChrX:18947345 GRCh38: ChrX:18929227	PHKA2		Glycogen storage disease IXa1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168540247.	NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro) GRCh37: ChrX:18963257 GRCh38: ChrX:18945139	PHKA2	R186P	Glycogen storage disease IXa1	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168540148.	NM_000292.3(PHKA2):c.919-1G>A GRCh37: ChrX:18956868 GRCh38: ChrX:18938750	PHKA2		Glycogen storage disease IXa1	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168500449.	NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln) GRCh37: ChrX:18943856 GRCh38: ChrX:18925738	PHKA2	R500Q	not specified, Glycogen storage disease IXa1	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168350150.	NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg) GRCh37: ChrX:18959739 GRCh38: ChrX:18941621	PHKA2	G258R	Glycogen storage disease IXa1	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167293851.	NM_000292.3(PHKA2):c.1460-5A>C GRCh37: ChrX:18943900 GRCh38: ChrX:18925782	PHKA2		Glycogen storage disease IXa1	Likely benign (Aug 5, 2021)	criteria provided, single submitter
Select item 166502552.	NM_000292.3(PHKA2):c.2622A>G (p.Thr874=) GRCh37: ChrX:18924908 GRCh38: ChrX:18906790	PHKA2		Glycogen storage disease IXa1	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 163588953.	NM_000292.3(PHKA2):c.18T>C (p.Asn6=) GRCh37: ChrX:19002033 GRCh38: ChrX:18983915	PHKA2		Glycogen storage disease IXa1	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 162103254.	NM_000292.3(PHKA2):c.285+12C>T GRCh37: ChrX:18970600 GRCh38: ChrX:18952482	PHKA2		Glycogen storage disease IXa1	Likely benign (Dec 24, 2020)	criteria provided, single submitter
Select item 160081255.	NM_000292.3(PHKA2):c.3112-14T>C GRCh37: ChrX:18915465 GRCh38: ChrX:18897347	PHKA2		Glycogen storage disease IXa1	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 159230056.	NM_000292.3(PHKA2):c.3111+14G>A GRCh37: ChrX:18917277 GRCh38: ChrX:18899159	PHKA2		Glycogen storage disease IXa1	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 159185157.	NM_000292.3(PHKA2):c.3282+14C>T GRCh37: ChrX:18915267 GRCh38: ChrX:18897149	PHKA2		Glycogen storage disease IXa1	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 159078658.	NM_000292.3(PHKA2):c.1138-15T>G GRCh37: ChrX:18949881 GRCh38: ChrX:18931763	PHKA2		Glycogen storage disease IXa1	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 158740359.	NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=) GRCh37: ChrX:18911744 GRCh38: ChrX:18893626	PHKA2, PHKA2-AS1		Glycogen storage disease IXa1	Likely benign (Jul 3, 2021)	criteria provided, single submitter
Select item 158734460.	NM_000292.3(PHKA2):c.477C>T (p.Leu159=) GRCh37: ChrX:18966922 GRCh38: ChrX:18948804	PHKA2		Glycogen storage disease IXa1	Likely benign (Nov 10, 2021)	criteria provided, single submitter
Select item 158204461.	NM_000292.3(PHKA2):c.1308T>G (p.Pro436=) GRCh37: ChrX:18947362 GRCh38: ChrX:18929244	PHKA2		Glycogen storage disease IXa1	Likely benign (Nov 6, 2021)	criteria provided, single submitter
Select item 157707262.	NM_000292.3(PHKA2):c.2868C>T (p.His956=) GRCh37: ChrX:18923916 GRCh38: ChrX:18905798	PHKA2		Glycogen storage disease IXa1	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 157375363.	NM_000292.3(PHKA2):c.1793+8G>T GRCh37: ChrX:18942166 GRCh38: ChrX:18924048	PHKA2		Glycogen storage disease IXa1	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 156995564.	NM_000292.3(PHKA2):c.1215C>T (p.Ser405=) GRCh37: ChrX:18949789 GRCh38: ChrX:18931671	PHKA2		Glycogen storage disease IXa1	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 156890465.	NM_000292.3(PHKA2):c.2677-17G>A GRCh37: ChrX:18924759 GRCh38: ChrX:18906641	PHKA2		Glycogen storage disease IXa1	Likely benign (Jul 26, 2021)	criteria provided, single submitter
Select item 156202466.	NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=) GRCh37: ChrX:18911621 GRCh38: ChrX:18893503	PHKA2, PHKA2-AS1		Glycogen storage disease IXa1	Likely benign (Jun 19, 2021)	criteria provided, single submitter
Select item 156128167.	NM_000292.3(PHKA2):c.718-19C>T GRCh37: ChrX:18959812 GRCh38: ChrX:18941694	PHKA2		Glycogen storage disease IXa1	Likely benign (Apr 9, 2021)	criteria provided, single submitter
Select item 155705668.	NM_000292.3(PHKA2):c.2385C>G (p.Leu795=) GRCh37: ChrX:18926150 GRCh38: ChrX:18908032	PHKA2		Glycogen storage disease IXa1	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 155030369.	NM_000292.3(PHKA2):c.1245+9T>C GRCh37: ChrX:18949750 GRCh38: ChrX:18931632	PHKA2		Glycogen storage disease IXa1	Likely benign (Apr 12, 2021)	criteria provided, single submitter
Select item 154244270.	NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=) GRCh37: ChrX:18913265 GRCh38: ChrX:18895147	PHKA2		Glycogen storage disease IXa1	Benign (Feb 23, 2022)	criteria provided, single submitter
Select item 153670671.	NM_000292.3(PHKA2):c.295G>A (p.Val99Met) GRCh37: ChrX:18969381 GRCh38: ChrX:18951263	PHKA2	V99M	Glycogen storage disease IXa1	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 152444572.	NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala) GRCh37: ChrX:18943794 GRCh38: ChrX:18925676	PHKA2	T521A	Glycogen storage disease IXa1	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 152251473.	NM_000292.3(PHKA2):c.919-2A>G GRCh37: ChrX:18956869 GRCh38: ChrX:18938751	PHKA2		Glycogen storage disease IXa1	Likely pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 152225074.	NM_000292.3(PHKA2):c.3111+5C>T GRCh37: ChrX:18917286 GRCh38: ChrX:18899168	PHKA2		Glycogen storage disease IXa1, Inborn genetic diseases	Uncertain significance (Nov 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151814975.	NC_000023.10:g.18923975_18923977del GRCh37: ChrX:18923975-18923977 GRCh38: ChrX:18905857-18905859	PHKA2		Glycogen storage disease IXa1	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 150882276.	NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn) GRCh37: ChrX:18942610 GRCh38: ChrX:18924492	PHKA2	D535N	Glycogen storage disease IXa1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 149006777.	NM_000292.3(PHKA2):c.1137+2T>C GRCh37: ChrX:18954171 GRCh38: ChrX:18936053	PHKA2		Glycogen storage disease IXa1	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 148950378.	NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg) GRCh37: ChrX:18959771 GRCh38: ChrX:18941653	PHKA2	P247R	Glycogen storage disease IXa1	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 147851379.	NM_000292.3(PHKA2):c.286-10del GRCh37: ChrX:18969400 GRCh38: ChrX:18951282	PHKA2		Glycogen storage disease IXa1	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 147713180.	NM_000292.3(PHKA2):c.1889A>G (p.Asn630Ser) GRCh37: ChrX:18938224 GRCh38: ChrX:18920106	PHKA2	N630S	Glycogen storage disease IXa1	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 147663681.	NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile) GRCh37: ChrX:18924865 GRCh38: ChrX:18906747	PHKA2	V889I	Glycogen storage disease IXa1	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 146430482.	NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile) GRCh37: ChrX:18926128 GRCh38: ChrX:18908010	PHKA2	V803I	Glycogen storage disease IXa1, See cases	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145933083.	NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC (p.Leu837delinsHisValTer) GRCh37: ChrX:18926025-18926026 GRCh38: ChrX:18907907-18907908	PHKA2		Glycogen storage disease IXa1	Pathogenic (Jan 27, 2021)	criteria provided, single submitter
Select item 145667284.	NM_000292.3(PHKA2):c.2614G>T (p.Glu872Ter) GRCh37: ChrX:18924916 GRCh38: ChrX:18906798	PHKA2	E872*	Glycogen storage disease IXa1	Pathogenic (Oct 28, 2020)	criteria provided, single submitter
Select item 142850285.	NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu) GRCh37: ChrX:18929055 GRCh38: ChrX:18910937	PHKA2	K721E	Glycogen storage disease IXa1	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 141025286.	NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr) GRCh37: ChrX:18970625 GRCh38: ChrX:18952507	PHKA2	C91Y	Glycogen storage disease IXa1	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 141025187.	NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr) GRCh37: ChrX:18966864 GRCh38: ChrX:18948746	PHKA2	A179T	not specified, Glycogen storage disease IXa1	Uncertain significance (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141024988.	NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg) GRCh37: ChrX:18963255 GRCh38: ChrX:18945137	PHKA2	G187R	Glycogen storage disease IXa1	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 139715589.	NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp) GRCh37: ChrX:18972442 GRCh38: ChrX:18954324	PHKA2	G56D	Glycogen storage disease IXa1	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 139528790.	NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val) GRCh37: ChrX:18926073 GRCh38: ChrX:18907955	PHKA2	G821V	Glycogen storage disease IXa1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 139386191.	NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro) GRCh37: ChrX:18915436 GRCh38: ChrX:18897318	PHKA2	S1043P	Glycogen storage disease IXa1	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 139088492.	NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser) GRCh37: ChrX:18959726 GRCh38: ChrX:18941608	PHKA2	I262S	Glycogen storage disease IXa1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 138354593.	NM_000292.3(PHKA2):c.200G>A (p.Arg67His) GRCh37: ChrX:18972409 GRCh38: ChrX:18954291	PHKA2	R67H	Glycogen storage disease IXa1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 138304794.	NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg) GRCh37: ChrX:19002044 GRCh38: ChrX:18983926	PHKA2	S3R	Glycogen storage disease IXa1	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 138242395.	NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr) GRCh37: ChrX:18969228 GRCh38: ChrX:18951110	PHKA2	A150T	Glycogen storage disease IXa1	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 137992396.	NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg) GRCh37: ChrX:18942556 GRCh38: ChrX:18924438	PHKA2	C553R	Glycogen storage disease IXa1	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 137212897.	NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg) GRCh37: ChrX:18969368 GRCh38: ChrX:18951250	PHKA2	K103R	Glycogen storage disease IXa1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 136054298.	NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala) GRCh37: ChrX:18929013 GRCh38: ChrX:18910895	PHKA2	S735A	Glycogen storage disease IXa1	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 134865299.	NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val) GRCh37: ChrX:18942192 GRCh38: ChrX:18924074	PHKA2	G592V	Glycogen storage disease IXa1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 1333453100.	NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter) GRCh37: ChrX:18970641 GRCh38: ChrX:18952523	PHKA2	R86*	Glycogen storage disease IXa1	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter

<< First< Prev

Page of 3