ClinVar for MedGen (Select 5341) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24353421.	NM_005609.4(PYGM):c.253T>C (p.Tyr85His) GRCh37: Chr11:64526167 GRCh38: Chr11:64758695	PYGM	Y85H	Glycogen storage disease, type V	Uncertain significance (Nov 28, 2022)	criteria provided, single submitter
Select item 24353412.	NM_005609.4(PYGM):c.1283G>A (p.Arg428His) GRCh37: Chr11:64521111 GRCh38: Chr11:64753639	PYGM	R340H, R428H	Glycogen storage disease, type V	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 24353403.	NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys) GRCh37: Chr11:64514142 GRCh38: Chr11:64746670	PYGM	E752K, E840K	Glycogen storage disease, type V	Uncertain significance (Feb 2, 2021)	criteria provided, single submitter
Select item 24353394.	NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn) GRCh37: Chr11:64514145 GRCh38: Chr11:64746673	PYGM	D751N, D839N	Glycogen storage disease, type V	Uncertain significance (Aug 2, 2020)	criteria provided, single submitter
Select item 24353385.	NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr) GRCh37: Chr11:64514446 GRCh38: Chr11:64746974	PYGM	A688T, A776T	Glycogen storage disease, type V	Uncertain significance (Feb 29, 2020)	criteria provided, single submitter
Select item 24353376.	NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe) GRCh37: Chr11:64519477 GRCh38: Chr11:64752005	PYGM	L475F, L563F	Glycogen storage disease, type V	Uncertain significance (Feb 26, 2020)	criteria provided, single submitter
Select item 24353367.	NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu) GRCh37: Chr11:64521132 GRCh38: Chr11:64753660	PYGM	G333E, G421E	Glycogen storage disease, type V	Uncertain significance (Oct 28, 2019)	criteria provided, single submitter
Select item 24353358.	NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln) GRCh37: Chr11:64521153 GRCh38: Chr11:64753681	PYGM	R326Q, R414Q	Glycogen storage disease, type V	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 24353349.	NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys) GRCh37: Chr11:64521351 GRCh38: Chr11:64753879	PYGM	N325K, N413K	Glycogen storage disease, type V	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 243533310.	NM_005609.4(PYGM):c.992C>A (p.Pro331Gln) GRCh37: Chr11:64522172 GRCh38: Chr11:64754700	PYGM	P243Q, P331Q	Glycogen storage disease, type V	Uncertain significance (Nov 29, 2019)	criteria provided, single submitter
Select item 243533211.	NM_005609.4(PYGM):c.424+4A>G GRCh37: Chr11:64525905 GRCh38: Chr11:64758433	PYGM		Glycogen storage disease, type V	Uncertain significance (Dec 26, 2019)	criteria provided, single submitter
Select item 243533112.	NM_005609.4(PYGM):c.1672A>G (p.Ile558Val) GRCh37: Chr11:64519492 GRCh38: Chr11:64752020	PYGM	I470V, I558V	Glycogen storage disease, type V	Uncertain significance (Jun 13, 2019)	criteria provided, single submitter
Select item 243533013.	NM_005609.4(PYGM):c.146C>A (p.Pro49Gln) GRCh37: Chr11:64527225 GRCh38: Chr11:64759753	PYGM	P49Q	Glycogen storage disease, type V	Uncertain significance (Jan 3, 2023)	criteria provided, single submitter
Select item 243532914.	NM_005609.4(PYGM):c.2021C>T (p.Ala674Val) GRCh37: Chr11:64518004 GRCh38: Chr11:64750532	PYGM	A586V, A674V	Glycogen storage disease, type V	Uncertain significance (Dec 8, 2022)	criteria provided, single submitter
Select item 243532815.	NM_005609.4(PYGM):c.1219A>G (p.Ile407Val) GRCh37: Chr11:64521371 GRCh38: Chr11:64753899	PYGM	I319V, I407V	Glycogen storage disease, type V	Uncertain significance (May 20, 2021)	criteria provided, single submitter
Select item 243532716.	NM_005609.4(PYGM):c.247A>T (p.Ile83Phe) GRCh37: Chr11:64526173 GRCh38: Chr11:64758701	PYGM	I83F	Glycogen storage disease, type V	Uncertain significance (Feb 24, 2020)	criteria provided, single submitter
Select item 243532617.	NM_005609.4(PYGM):c.2465C>T (p.Ala822Val) GRCh37: Chr11:64514195 GRCh38: Chr11:64746723	PYGM	A734V, A822V	Glycogen storage disease, type V	Uncertain significance (Aug 27, 2020)	criteria provided, single submitter
Select item 243532518.	NM_005609.4(PYGM):c.406G>A (p.Gly136Ser) GRCh37: Chr11:64525927 GRCh38: Chr11:64758455	PYGM	G136S	Glycogen storage disease, type V	Uncertain significance (Oct 18, 2019)	criteria provided, single submitter
Select item 243532419.	NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys) GRCh37: Chr11:64517921 GRCh38: Chr11:64750449	PYGM	E702K, E614K	Glycogen storage disease, type V	Uncertain significance (Sep 25, 2019)	criteria provided, single submitter
Select item 243532320.	NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu) GRCh37: Chr11:64519962 GRCh38: Chr11:64752490	PYGM	D423E, D511E	Glycogen storage disease, type V	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 243532221.	NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile) GRCh37: Chr11:64518892 GRCh38: Chr11:64751420	PYGM	T537I, T625I	Glycogen storage disease, type V	Uncertain significance (Jan 4, 2023)	criteria provided, single submitter
Select item 243532122.	NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys) GRCh37: Chr11:64514198 GRCh38: Chr11:64746726	PYGM	Y733C, Y821C	Glycogen storage disease, type V	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 243532023.	NM_005609.4(PYGM):c.242A>G (p.Lys81Arg) GRCh37: Chr11:64527129 GRCh38: Chr11:64759657	PYGM	K81R	Glycogen storage disease, type V	Uncertain significance (Mar 25, 2021)	criteria provided, single submitter
Select item 243531924.	NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr) GRCh37: Chr11:64519895 GRCh38: Chr11:64752423	PYGM	D446Y, D534Y	Glycogen storage disease, type V	Uncertain significance (Jun 14, 2021)	criteria provided, single submitter
Select item 243531825.	NM_005609.4(PYGM):c.554G>A (p.Arg185His) GRCh37: Chr11:64525357 GRCh38: Chr11:64757885	PYGM	R185H, R97H	Glycogen storage disease, type V	Uncertain significance (Nov 15, 2019)	criteria provided, single submitter
Select item 243531726.	NM_005609.4(PYGM):c.1127C>T (p.Thr376Ile) GRCh37: Chr11:64521463 GRCh38: Chr11:64753991	PYGM	T288I, T376I	Glycogen storage disease, type V	Uncertain significance (Aug 19, 2020)	criteria provided, single submitter
Select item 243531627.	NM_005609.4(PYGM):c.101G>A (p.Arg34Gln) GRCh37: Chr11:64527270 GRCh38: Chr11:64759798	PYGM	R34Q	Glycogen storage disease, type V	Uncertain significance (Jul 8, 2019)	criteria provided, single submitter
Select item 243531528.	NM_005609.4(PYGM):c.1093-3C>T GRCh37: Chr11:64521500 GRCh38: Chr11:64754028	PYGM		Glycogen storage disease, type V	Uncertain significance (Jul 8, 2019)	criteria provided, single submitter
Select item 243531429.	NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys) GRCh37: Chr11:64518014 GRCh38: Chr11:64750542	PYGM	G583C, G671C	Glycogen storage disease, type V	Uncertain significance (Nov 28, 2020)	criteria provided, single submitter
Select item 243531330.	NM_005609.4(PYGM):c.222C>G (p.His74Gln) GRCh37: Chr11:64527149 GRCh38: Chr11:64759677	PYGM	H74Q	Glycogen storage disease, type V	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 243531231.	NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe) GRCh37: Chr11:64527147 GRCh38: Chr11:64759675	PYGM	Y75F	Glycogen storage disease, type V	Uncertain significance (Jul 10, 2020)	criteria provided, single submitter
Select item 243531132.	NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu) GRCh37: Chr11:64517898 GRCh38: Chr11:64750426	PYGM	F621L, F709L	Glycogen storage disease, type V	Uncertain significance (Nov 5, 2019)	criteria provided, single submitter
Select item 243531033.	NM_005609.4(PYGM):c.974C>T (p.Thr325Met) GRCh37: Chr11:64522190 GRCh38: Chr11:64754718	PYGM	T237M, T325M	Glycogen storage disease, type V	Uncertain significance (Jan 28, 2019)	criteria provided, single submitter
Select item 243530934.	NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser) GRCh37: Chr11:64521352 GRCh38: Chr11:64753880	PYGM	N325S, N413S	Glycogen storage disease, type V	Uncertain significance (May 1, 2019)	criteria provided, single submitter
Select item 243090635.	NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr) GRCh37: Chr11:64527210 GRCh38: Chr11:64759738	PYGM	F54Y	not provided, Glycogen storage disease, type V	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242538636.	NC_000011.9:g.(?_64520525)_(64523631_?)dup GRCh37: Chr11:64520525-64523631	PYGM		Glycogen storage disease, type V	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 242021837.	NM_005609.4(PYGM):c.1828-16G>C GRCh37: Chr11:64518954 GRCh38: Chr11:64751482	PYGM		Glycogen storage disease, type V	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 241778238.	NM_005609.4(PYGM):c.529-15C>G GRCh37: Chr11:64525397 GRCh38: Chr11:64757925	PYGM		Glycogen storage disease, type V	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 241754839.	NM_005609.4(PYGM):c.691G>A (p.Val231Met) GRCh37: Chr11:64523000 GRCh38: Chr11:64755528	PYGM	V143M, V231M	Glycogen storage disease, type V	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 241603940.	NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala) GRCh37: Chr11:64514148 GRCh38: Chr11:64746676	PYGM	P750A, P838A	Glycogen storage disease, type V	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 241517141.	NM_005609.4(PYGM):c.1769-16T>C GRCh37: Chr11:64519143 GRCh38: Chr11:64751671	PYGM		Glycogen storage disease, type V	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 241483042.	NM_005609.4(PYGM):c.2460G>A (p.Gln820=) GRCh37: Chr11:64514200 GRCh38: Chr11:64746728	PYGM		Glycogen storage disease, type V	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 220266343.	NM_005609.4(PYGM):c.80A>G (p.Glu27Gly) GRCh37: Chr11:64527291 GRCh38: Chr11:64759819	PYGM	E27G	Glycogen storage disease, type V	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 220247444.	NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys) GRCh37: Chr11:64521362 GRCh38: Chr11:64753890	PYGM	R322C, R410C	Glycogen storage disease, type V	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220241645.	NM_005609.4(PYGM):c.345+17_345+18delinsAA GRCh37: Chr11:64526057-64526058 GRCh38: Chr11:64758585-64758586	PYGM		Glycogen storage disease, type V	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 220175146.	NM_005609.4(PYGM):c.1071G>C (p.Leu357=) GRCh37: Chr11:64521746 GRCh38: Chr11:64754274	PYGM		Glycogen storage disease, type V	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 220162747.	NM_005609.4(PYGM):c.2312+15C>T GRCh37: Chr11:64514681 GRCh38: Chr11:64747209	PYGM		Glycogen storage disease, type V	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 220128948.	NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu) GRCh37: Chr11:64514741 GRCh38: Chr11:64747269	PYGM	P668L, P756L	Glycogen storage disease, type V	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 220106449.	NM_005609.4(PYGM):c.244-15C>T GRCh37: Chr11:64526191 GRCh38: Chr11:64758719	PYGM		Glycogen storage disease, type V	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 220087150.	NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr) GRCh37: Chr11:64514404 GRCh38: Chr11:64746932	PYGM	A702T, A790T	Glycogen storage disease, type V	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 220066151.	NM_005609.4(PYGM):c.710A>G (p.Asn237Ser) GRCh37: Chr11:64522981 GRCh38: Chr11:64755509	PYGM	N149S, N237S	Glycogen storage disease, type V	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220054852.	NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys) GRCh37: Chr11:64521762 GRCh38: Chr11:64754290	PYGM	R352K, R264K	Glycogen storage disease, type V	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 220020953.	NM_005609.4(PYGM):c.134A>G (p.Asn45Ser) GRCh37: Chr11:64527237 GRCh38: Chr11:64759765	PYGM	N45S	Glycogen storage disease, type V	Uncertain significance (Jun 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219707854.	NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys) GRCh37: Chr11:64514160 GRCh38: Chr11:64746688	PYGM	R746C, R834C	Glycogen storage disease, type V	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219369755.	NM_005609.4(PYGM):c.1001T>C (p.Val334Ala) GRCh37: Chr11:64521816 GRCh38: Chr11:64754344	PYGM	V334A, V246A	Inborn genetic diseases, Glycogen storage disease, type V	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219182156.	NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro) GRCh37: Chr11:64519927 GRCh38: Chr11:64752455	PYGM	L523P, L435P	Glycogen storage disease, type V	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 219011557.	NM_005609.4(PYGM):c.889G>C (p.Glu297Gln) GRCh37: Chr11:64522275 GRCh38: Chr11:64754803	PYGM	E209Q, E297Q	Glycogen storage disease, type V	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 218594258.	NM_005609.4(PYGM):c.1191G>A (p.Leu397=) GRCh37: Chr11:64521399 GRCh38: Chr11:64753927	PYGM		Glycogen storage disease, type V	Benign (Apr 18, 2022)	criteria provided, single submitter
Select item 218447359.	NM_005609.4(PYGM):c.1518+15T>C GRCh37: Chr11:64520530 GRCh38: Chr11:64753058	PYGM		Glycogen storage disease, type V	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 218384460.	NM_005609.4(PYGM):c.2028C>A (p.Gly676=) GRCh37: Chr11:64517997 GRCh38: Chr11:64750525	PYGM		Glycogen storage disease, type V	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 218295961.	NM_005609.4(PYGM):c.1722T>C (p.Tyr574=) GRCh37: Chr11:64519442 GRCh38: Chr11:64751970	PYGM		Glycogen storage disease, type V	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 218123662.	NM_005609.4(PYGM):c.1404-20C>T GRCh37: Chr11:64520679 GRCh38: Chr11:64753207	PYGM		Glycogen storage disease, type V	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 217829563.	NM_005609.4(PYGM):c.1239+13G>C GRCh37: Chr11:64521338 GRCh38: Chr11:64753866	PYGM		Glycogen storage disease, type V	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 217667464.	NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr) GRCh37: Chr11:64519079 GRCh38: Chr11:64751607	PYGM	I606T, I518T	Glycogen storage disease, type V, Inborn genetic diseases	Uncertain significance (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217393965.	NM_005609.4(PYGM):c.1620+13G>A GRCh37: Chr11:64519862 GRCh38: Chr11:64752390	PYGM		Glycogen storage disease, type V	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 217378466.	NM_005609.4(PYGM):c.2376C>T (p.Tyr792=) GRCh37: Chr11:64514396 GRCh38: Chr11:64746924	PYGM		Glycogen storage disease, type V	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 217331167.	NM_005609.4(PYGM):c.694C>G (p.Pro232Ala) GRCh37: Chr11:64522997 GRCh38: Chr11:64755525	PYGM	P144A, P232A	Glycogen storage disease, type V	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 217176468.	NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn) GRCh37: Chr11:64514135 GRCh38: Chr11:64746663	PYGM	I842N, I754N	Glycogen storage disease, type V	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 216823469.	NM_005609.4(PYGM):c.2133C>T (p.Ile711=) GRCh37: Chr11:64517892 GRCh38: Chr11:64750420	PYGM		Glycogen storage disease, type V	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 216773170.	NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln) GRCh37: Chr11:64521741 GRCh38: Chr11:64754269	PYGM	R359Q, R271Q	Glycogen storage disease, type V	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 216717771.	NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser) GRCh37: Chr11:64521790 GRCh38: Chr11:64754318	PYGM	P343S, P255S	Glycogen storage disease, type V	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 216560472.	NM_005609.4(PYGM):c.1403+12T>C GRCh37: Chr11:64520979 GRCh38: Chr11:64753507	PYGM		Glycogen storage disease, type V	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 216181873.	NM_005609.4(PYGM):c.615C>T (p.Gly205=) GRCh37: Chr11:64525296 GRCh38: Chr11:64757824	PYGM		Glycogen storage disease, type V	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 216104574.	NM_005609.4(PYGM):c.212C>G (p.Thr71Arg) GRCh37: Chr11:64527159 GRCh38: Chr11:64759687	PYGM	T71R	Glycogen storage disease, type V	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 215985375.	NM_005609.4(PYGM):c.1524C>G (p.Ile508Met) GRCh37: Chr11:64519971 GRCh38: Chr11:64752499	PYGM	I420M, I508M	Glycogen storage disease, type V	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 215978776.	NM_005609.4(PYGM):c.1328C>T (p.Ala443Val) GRCh37: Chr11:64521066 GRCh38: Chr11:64753594	PYGM	A355V, A443V	Glycogen storage disease, type V	Uncertain significance (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215958577.	NM_005609.4(PYGM):c.414C>T (p.Gly138=) GRCh37: Chr11:64525919 GRCh38: Chr11:64758447	PYGM		Glycogen storage disease, type V	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 215937878.	NM_005609.4(PYGM):c.1621-8G>A GRCh37: Chr11:64519551 GRCh38: Chr11:64752079	PYGM		Glycogen storage disease, type V	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 215744679.	NM_005609.4(PYGM):c.781G>A (p.Gly261Ser) GRCh37: Chr11:64522819 GRCh38: Chr11:64755347	PYGM	G173S, G261S	Glycogen storage disease, type V	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 215528780.	NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr) GRCh37: Chr11:64521370 GRCh38: Chr11:64753898	PYGM	I319T, I407T	Glycogen storage disease, type V	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 215146881.	NM_005609.4(PYGM):c.773-9G>A GRCh37: Chr11:64522836 GRCh38: Chr11:64755364	PYGM		Glycogen storage disease, type V	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 215020582.	NM_005609.4(PYGM):c.1536C>T (p.Phe512=) GRCh37: Chr11:64519959 GRCh38: Chr11:64752487	PYGM		Glycogen storage disease, type V	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 214932783.	NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys) GRCh37: Chr11:64519976 GRCh38: Chr11:64752504	PYGM	R419C, R507C	Glycogen storage disease, type V	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 214928284.	NM_005609.4(PYGM):c.2177+20C>T GRCh37: Chr11:64517828 GRCh38: Chr11:64750356	PYGM		Glycogen storage disease, type V	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 214872485.	NM_005609.4(PYGM):c.2380-14C>T GRCh37: Chr11:64514294 GRCh38: Chr11:64746822	PYGM		Glycogen storage disease, type V	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214736186.	NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly) GRCh37: Chr11:64514160 GRCh38: Chr11:64746688	PYGM	R834G, R746G	Glycogen storage disease, type V	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214612187.	NM_005609.4(PYGM):c.1403+9C>T GRCh37: Chr11:64520982 GRCh38: Chr11:64753510	PYGM		Glycogen storage disease, type V	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214601788.	NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln) GRCh37: Chr11:64514261 GRCh38: Chr11:64746789	PYGM	R712Q, R800Q	Glycogen storage disease, type V	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 214596789.	NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys) GRCh37: Chr11:64517909 GRCh38: Chr11:64750437	PYGM	E706K, E618K	Glycogen storage disease, type V	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214589990.	NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr) GRCh37: Chr11:64521088 GRCh38: Chr11:64753616	PYGM	A436T, A348T	Inborn genetic diseases, Glycogen storage disease, type V	Uncertain significance (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214547691.	NM_005609.4(PYGM):c.1240-22_1240-20del GRCh37: Chr11:64521174-64521176 GRCh38: Chr11:64753702-64753704	PYGM		Glycogen storage disease, type V	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 214466892.	NM_005609.4(PYGM):c.50G>A (p.Arg17His) GRCh37: Chr11:64527321 GRCh38: Chr11:64759849	PYGM	R17H	Glycogen storage disease, type V	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 214408693.	NM_005609.4(PYGM):c.768G>A (p.Lys256=) GRCh37: Chr11:64522923 GRCh38: Chr11:64755451	PYGM		Glycogen storage disease, type V	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 214403194.	NM_005609.4(PYGM):c.121G>A (p.Val41Ile) GRCh37: Chr11:64527250 GRCh38: Chr11:64759778	PYGM	V41I	Glycogen storage disease, type V	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214357795.	NM_005609.4(PYGM):c.855+15G>A GRCh37: Chr11:64522730 GRCh38: Chr11:64755258	PYGM		Glycogen storage disease, type V	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 214268096.	NM_005609.4(PYGM):c.2312+19G>A GRCh37: Chr11:64514677 GRCh38: Chr11:64747205	PYGM		Glycogen storage disease, type V	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 214209597.	NM_005609.4(PYGM):c.207C>T (p.Ile69=) GRCh37: Chr11:64527164 GRCh38: Chr11:64759692	PYGM		Glycogen storage disease, type V	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 214175198.	NM_005609.4(PYGM):c.2379+11C>A GRCh37: Chr11:64514382 GRCh38: Chr11:64746910	PYGM		Glycogen storage disease, type V	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 214148999.	NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu) GRCh37: Chr11:64518862 GRCh38: Chr11:64751390	PYGM	P635L, P547L	Inborn genetic diseases, Glycogen storage disease, type V	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2141424100.	NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys) GRCh37: Chr11:64519507 GRCh38: Chr11:64752035	PYGM	E465K, E553K	Glycogen storage disease, type V	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter

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