Pomt2 Variant Search Result - Rat Genome Database

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1001 records found for search term Pomt2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11642383	CV269816	single nucleotide variant	NM_013382.7(POMT2):c.-7G>A	not provided [RCV000373294]	uncertain significance	14	77320688	77320688	Human		name
150417704	CV1194880	single nucleotide variant	NM_013382.7(POMT2):c.-61G>A	not provided [RCV001568886]	likely benign	14	77320742	77320742	Human		name
11613127	CV330784	single nucleotide variant	NM_013382.7(POMT2):c.*15T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000265451]	uncertain significance	14	77277361	77277361	Human	1	name
11622693	CV330803	single nucleotide variant	NM_013382.7(POMT2):c.-56G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000363297]\|not provided [RCV000836028]	likely benign\|uncertain significance	14	77320737	77320737	Human	1	name
11622241	CV339471	single nucleotide variant	NM_013382.7(POMT2):c.*75C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000357869]\|not provided [RCV001613006]	benign\|likely benign	14	77277301	77277301	Human	1	name
11614430	CV339472	single nucleotide variant	NM_013382.7(POMT2):c.-64G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000276759]\|not provided [RCV000833954]	benign\|likely benign	14	77320745	77320745	Human	1	name
28880033	CV872743	single nucleotide variant	NM_013382.7(POMT2):c.*11A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117391]	uncertain significance	14	77277365	77277365	Human	1	name
11663104	CV321498	single nucleotide variant	NM_013382.7(POMT2):c.*594G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000392369]	uncertain significance	14	77276782	77276782	Human	1	name
11606674	CV321504	single nucleotide variant	NM_013382.7(POMT2):c.-124G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000334148]\|not provided [RCV000833473]	benign\|likely benign	14	77320805	77320805	Human	1	name
11610812	CV321505	single nucleotide variant	NM_013382.7(POMT2):c.-128C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000386260]\|not provided [RCV001683265]	benign\|likely benign	14	77320809	77320809	Human	1	name
11647290	CV321512	single nucleotide variant	NM_013382.7(POMT2):c.-142C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000275502]	uncertain significance	14	77320823	77320823	Human	1	name
11661389	CV321513	single nucleotide variant	NM_013382.7(POMT2):c.-199C>T	Limb-girdle muscular dystrophy, recessive [RCV000375802]	uncertain significance	14	77320880	77320880	Human	1	name
11624272	CV330756	single nucleotide variant	NM_013382.7(POMT2):c.*693C>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000383702]	uncertain significance	14	77276683	77276683	Human	1	name
11658815	CV330764	single nucleotide variant	NM_013382.7(POMT2):c.*597C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000352236]	uncertain significance	14	77276779	77276779	Human	1	name
11618329	CV330773	single nucleotide variant	NM_013382.7(POMT2):c.*587G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000312624]\|not provided [RCV004715864]	benign\|likely benign	14	77276789	77276789	Human	1	name
11620470	CV330775	single nucleotide variant	NM_013382.7(POMT2):c.*433T>C	Limb-girdle muscular dystrophy, recessive [RCV000337121]	uncertain significance	14	77276943	77276943	Human	1	name
11621909	CV330782	single nucleotide variant	NM_013382.7(POMT2):c.*196G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000354134]	uncertain significance	14	77277180	77277180	Human	1	name
11661834	CV337406	single nucleotide variant	NM_013382.7(POMT2):c.*927G>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000380160]	uncertain significance	14	77276449	77276449	Human	1	name
11615194	CV337416	single nucleotide variant	NM_013382.7(POMT2):c.*790G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000283369]\|not provided [RCV004714858]	benign	14	77276586	77276586	Human	1	name
11657750	CV337418	single nucleotide variant	NM_013382.7(POMT2):c.*622C>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000343954]	uncertain significance	14	77276754	77276754	Human	1	name
11663105	CV337426	single nucleotide variant	NM_013382.7(POMT2):c.*349G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000392372]	uncertain significance	14	77277027	77277027	Human	1	name
11619141	CV339450	single nucleotide variant	NM_013382.7(POMT2):c.*758G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000322091]	uncertain significance	14	77276618	77276618	Human	1	name
11624150	CV339451	single nucleotide variant	NM_013382.7(POMT2):c.*606G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000382186]	uncertain significance	14	77276770	77276770	Human	1	name
11616486	CV339458	single nucleotide variant	NM_013382.7(POMT2):c.*605C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000294833]	uncertain significance	14	77276771	77276771	Human	1	name
11651137	CV339461	single nucleotide variant	NM_013382.7(POMT2):c.*289G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000296882]	uncertain significance	14	77277087	77277087	Human	1	name
11645652	CV339468	single nucleotide variant	NM_013382.7(POMT2):c.*119T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000266757]	uncertain significance	14	77277257	77277257	Human	1	name
11652542	CV339470	single nucleotide variant	NM_013382.7(POMT2):c.*103C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000305492]	uncertain significance	14	77277273	77277273	Human	1	name
11654561	CV339481	single nucleotide variant	NM_013382.7(POMT2):c.-149C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000318812]	uncertain significance	14	77320830	77320830	Human	1	name
28884985	CV872733	single nucleotide variant	NM_013382.7(POMT2):c.*809G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118900]	uncertain significance	14	77276567	77276567	Human	1	name
28884990	CV872734	single nucleotide variant	NM_013382.7(POMT2):c.*766C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118901]	uncertain significance	14	77276610	77276610	Human	1	name
28884994	CV872735	single nucleotide variant	NM_013382.7(POMT2):c.*727C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118902]	uncertain significance	14	77276649	77276649	Human	1	name
28891140	CV872736	single nucleotide variant	NM_013382.7(POMT2):c.*637C>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120864]	uncertain significance	14	77276739	77276739	Human	1	name
28891142	CV872737	single nucleotide variant	NM_013382.7(POMT2):c.*605C>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120865]	uncertain significance	14	77276771	77276771	Human	1	name
28891143	CV872738	single nucleotide variant	NM_013382.7(POMT2):c.*601G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120866]	uncertain significance	14	77276775	77276775	Human	1	name
28875496	CV872739	single nucleotide variant	NM_013382.7(POMT2):c.*574T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115935]	uncertain significance	14	77276802	77276802	Human	1	name
28875499	CV872740	single nucleotide variant	NM_013382.7(POMT2):c.*316C>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115936]	uncertain significance	14	77277060	77277060	Human	1	name
28875500	CV872741	single nucleotide variant	NM_013382.7(POMT2):c.*186C>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115937]	uncertain significance	14	77277190	77277190	Human	1	name
28875505	CV872742	single nucleotide variant	NM_013382.7(POMT2):c.*176C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115938]	uncertain significance	14	77277200	77277200	Human	1	name
28885590	CV872748	single nucleotide variant	NM_013382.7(POMT2):c.-113G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001119098]	uncertain significance	14	77320794	77320794	Human	1	name
28891691	CV872749	single nucleotide variant	NM_013382.7(POMT2):c.-136G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001121072]	uncertain significance	14	77320817	77320817	Human	1	name
28891695	CV872750	single nucleotide variant	NM_013382.7(POMT2):c.-172C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001121073]	uncertain significance	14	77320853	77320853	Human	1	name
28891699	CV872751	single nucleotide variant	NM_013382.7(POMT2):c.-176C>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001121074]	uncertain significance	14	77320857	77320857	Human	1	name
127242022	CV1102594	deletion	NM_013382.7(POMT2):c.657-4del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001434536]	likely benign	14	77301253	77301253	Human	1	name
127283235	CV1102595	duplication	NM_013382.7(POMT2):c.657-7dup	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001448392]	likely benign	14	77301252	77301253	Human	1	name
127301455	CV1124010	single nucleotide variant	NM_013382.7(POMT2):c.923+7A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001461405]	likely benign	14	77299448	77299448	Human	1	name
127321096	CV1124011	single nucleotide variant	NM_013382.7(POMT2):c.657-9G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001467145]	likely benign	14	77301258	77301258	Human	1	name
151780868	CV1466325	single nucleotide variant	NM_013382.7(POMT2):c.657-3C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001883246]	uncertain significance	14	77301252	77301252	Human	1	name
151780950	CV1470111	single nucleotide variant	NM_013382.7(POMT2):c.547+5G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001883422]	uncertain significance	14	77304687	77304687	Human	1	name
152118271	CV1522310	single nucleotide variant	NM_013382.7(POMT2):c.548-9G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002081195]	likely benign	14	77302952	77302952	Human	1	name
152062937	CV1542129	single nucleotide variant	NM_013382.7(POMT2):c.924-5C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002208917]	likely benign	14	77298776	77298776	Human	1	name
152027196	CV1562542	duplication	NM_013382.7(POMT2):c.249-8dup	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002104811]	likely benign	14	77312040	77312041	Human	1	name
152097802	CV1650232	single nucleotide variant	NM_013382.7(POMT2):c.439-9C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002114926]	likely benign	14	77304809	77304809	Human	1	name
8557294	CV18273	single nucleotide variant	NM_013382.7(POMT2):c.248+5G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003764520]\|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RCV000003390]	pathogenic\|likely pathogenic	14	77320429	77320429	Human	3	name
156407407	CV1960580	single nucleotide variant	NM_013382.7(POMT2):c.439-6C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002586218]	likely benign	14	77304806	77304806	Human	1	name
156270095	CV1970910	single nucleotide variant	NM_013382.7(POMT2):c.924-4A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002598063]	likely benign	14	77298775	77298775	Human	1	name
156214899	CV2039008	single nucleotide variant	NM_013382.7(POMT2):c.656+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002766755]	likely pathogenic	14	77302834	77302834	Human	1	name
156326724	CV2054185	single nucleotide variant	NM_013382.7(POMT2):c.923+5A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002810437]	uncertain significance	14	77299450	77299450	Human	1	name
155942061	CV2068281	single nucleotide variant	NM_013382.7(POMT2):c.924-5C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002839476]	likely benign	14	77298776	77298776	Human	1	name
156182781	CV2182447	single nucleotide variant	NM_013382.7(POMT2):c.248+5G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003057581]	uncertain significance	14	77320429	77320429	Human	1	name
243053567	CV2408084	single nucleotide variant	NM_013382.7(POMT2):c.333+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004572856]\|not provided [RCV003131260]	pathogenic\|likely pathogenic	14	77311948	77311948	Human	1	name
329846641	CV2523841	single nucleotide variant	NM_013382.7(POMT2):c.333+1G>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV003226131]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005012815]	likely pathogenic	14	77311948	77311948	Human	2	name
11633618	CV274002	single nucleotide variant	NM_013382.7(POMT2):c.924-2A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001230047]\|not provided [RCV000352653]	pathogenic	14	77298773	77298773	Human	1	name
401948720	CV2835169	single nucleotide variant	NM_013382.7(POMT2):c.248+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472501]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005012968]	likely pathogenic	14	77320433	77320433	Human	1	name
401948730	CV2835179	single nucleotide variant	NM_013382.7(POMT2):c.248+1G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV005356446]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472511]	likely pathogenic	14	77320433	77320433	Human	2	name
405049874	CV3084554	single nucleotide variant	NM_013382.7(POMT2):c.334-8C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003797961]	likely benign	14	77306449	77306449	Human	1	name
404985056	CV3087341	single nucleotide variant	NM_013382.7(POMT2):c.924-7C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781804]	likely benign	14	77298778	77298778	Human	1	name
402512537	CV3087400	single nucleotide variant	NM_013382.7(POMT2):c.816+1G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789751]	pathogenic\|likely pathogenic	14	77301089	77301089	Human	1	name
402508667	CV3090755	single nucleotide variant	NM_013382.7(POMT2):c.656+9C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789372]	likely benign	14	77302826	77302826	Human	1	name
404979177	CV3099360	single nucleotide variant	NM_013382.7(POMT2):c.548-2A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791188]	likely pathogenic	14	77302945	77302945	Human	1	name
405107994	CV3112221	single nucleotide variant	NM_013382.7(POMT2):c.923+8C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003813064]	likely benign	14	77299447	77299447	Human	1	name
405040106	CV3112784	single nucleotide variant	NM_013382.7(POMT2):c.657-4T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003807451]	likely benign	14	77301253	77301253	Human	1	name
11612214	CV321465	single nucleotide variant	NM_013382.7(POMT2):c.*2325A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000405359]\|not provided [RCV004714852]	benign\|likely benign	14	77275051	77275051	Human	1	name
11604459	CV321472	single nucleotide variant	NM_013382.7(POMT2):c.*2165T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000309408]	uncertain significance	14	77275211	77275211	Human	1	name
11605292	CV321473	single nucleotide variant	NM_013382.7(POMT2):c.*1756C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000317707]	likely benign\|uncertain significance	14	77275620	77275620	Human	1	name
11607332	CV321479	single nucleotide variant	NM_013382.7(POMT2):c.*1742G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000342374]\|not provided [RCV004714855]	benign	14	77275634	77275634	Human	1	name
11611831	CV321481	single nucleotide variant	NM_013382.7(POMT2):c.*1724C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000400007]	uncertain significance	14	77275652	77275652	Human	1	name
11607649	CV321482	single nucleotide variant	NM_013382.7(POMT2):c.*1603C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000345941]	uncertain significance	14	77275773	77275773	Human	1	name
11604700	CV321484	single nucleotide variant	NM_013382.7(POMT2):c.*1317A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000311852]	uncertain significance	14	77276059	77276059	Human	1	name
11644927	CV321488	single nucleotide variant	NM_013382.7(POMT2):c.*1265T>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000262509]	uncertain significance	14	77276111	77276111	Human	1	name
11605461	CV321492	single nucleotide variant	NM_013382.7(POMT2):c.*1137G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000319860]\|not provided [RCV004714857]	benign	14	77276239	77276239	Human	1	name
11608340	CV321493	single nucleotide variant	NM_013382.7(POMT2):c.*1087C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000353727]	benign\|likely benign	14	77276289	77276289	Human	1	name
11601463	CV321502	single nucleotide variant	NM_013382.7(POMT2):c.924-6C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000282331]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002061167]	likely benign\|uncertain significance	14	77298777	77298777	Human	2	name
11660108	CV330729	single nucleotide variant	NM_013382.7(POMT2):c.*2160T>C	Limb-girdle muscular dystrophy, recessive [RCV000363980]	uncertain significance	14	77275216	77275216	Human	1	name
11614227	CV330734	single nucleotide variant	NM_013382.7(POMT2):c.*2072C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000275187]	uncertain significance	14	77275304	77275304	Human	1	name
11623697	CV330742	single nucleotide variant	NM_013382.7(POMT2):c.*1967C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000375908]\|not provided [RCV004715861]	benign	14	77275409	77275409	Human	1	name
11623408	CV330747	single nucleotide variant	NM_013382.7(POMT2):c.*1749C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000372300]	uncertain significance	14	77275627	77275627	Human	1	name
11655150	CV330754	single nucleotide variant	NM_013382.7(POMT2):c.*1053A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000323393]	uncertain significance	14	77276323	77276323	Human	1	name
11613581	CV337383	single nucleotide variant	NM_013382.7(POMT2):c.*2151A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000269482]\|not provided [RCV002510847]	benign\|uncertain significance	14	77275225	77275225	Human	1	name
11623172	CV337386	single nucleotide variant	NM_013382.7(POMT2):c.*2091G>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000369695]	likely benign\|uncertain significance	14	77275285	77275285	Human	1	name
11619876	CV337387	single nucleotide variant	NM_013382.7(POMT2):c.*1974G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000330307]\|not provided [RCV004714853]	benign	14	77275402	77275402	Human	1	name
11617642	CV337398	single nucleotide variant	NM_013382.7(POMT2):c.*1516A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000306310]\|not provided [RCV004714856]	benign\|likely benign	14	77275860	77275860	Human	1	name
11635531	CV339410	duplication	NM_013382.7(POMT2):c.*2369dup	Limb-girdle muscular dystrophy, recessive [RCV000357805]\|not provided [RCV004693197]	uncertain significance	14	77275006	77275007	Human	1	name
11620155	CV339411	single nucleotide variant	NM_013382.7(POMT2):c.*2093A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000333736]	uncertain significance	14	77275283	77275283	Human	1	name
11614968	CV339416	single nucleotide variant	NM_013382.7(POMT2):c.*1805G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000281350]	uncertain significance	14	77275571	77275571	Human	1	name
11615574	CV339428	single nucleotide variant	NM_013382.7(POMT2):c.*1748C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000287368]\|not provided [RCV004714854]	benign\|likely benign	14	77275628	77275628	Human	1	name
11648856	CV339431	single nucleotide variant	NM_013382.7(POMT2):c.*1610T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000283837]	uncertain significance	14	77275766	77275766	Human	1	name
11626261	CV339432	single nucleotide variant	NM_013382.7(POMT2):c.*1579C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000408431]	uncertain significance	14	77275797	77275797	Human	1	name
11623255	CV339435	single nucleotide variant	NM_013382.7(POMT2):c.*1501G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000370357]\|not provided [RCV004715862]	benign	14	77275875	77275875	Human	1	name
11626214	CV339442	single nucleotide variant	NM_013382.7(POMT2):c.*1337C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000408412]\|not provided [RCV004703671]	likely benign\|uncertain significance	14	77276039	77276039	Human	1	name
11660647	CV339447	single nucleotide variant	NM_013382.7(POMT2):c.*1285T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000368838]	uncertain significance	14	77276091	77276091	Human	1	name
11612663	CV339449	single nucleotide variant	NM_013382.7(POMT2):c.*1058G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000261235]\|not provided [RCV004715863]	benign	14	77276318	77276318	Human	1	name
597843430	CV3865242	single nucleotide variant	NM_013382.7(POMT2):c.817-4G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005211691]	likely benign	14	77299565	77299565	Human	1	name
597836519	CV3874462	single nucleotide variant	NM_013382.7(POMT2):c.923+9A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005210383]	likely benign	14	77299446	77299446	Human	1	name
13488130	CV445254	single nucleotide variant	NM_013382.7(POMT2):c.924-2A>C	Autosomal recessive limb-girdle muscular dystrophy [RCV004586753]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000822848]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003476218]\|not provided [RCV000523465 ... (more) ]	pathogenic	14	77298773	77298773	Human	2	name
13489075	CV464401	single nucleotide variant	NM_013382.7(POMT2):c.656+3C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000532725]\|not provided [RCV000732406]	uncertain significance	14	77302832	77302832	Human	1	name
13515951	CV493191	single nucleotide variant	NM_013382.7(POMT2):c.248+2T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003471961]\|not provided [RCV000594921]	pathogenic\|likely pathogenic	14	77320432	77320432	Human	1	name
13532563	CV504871	single nucleotide variant	NM_013382.7(POMT2):c.248+6T>C	not specified [RCV000601401]	likely benign	14	77320428	77320428	Human		name
13810507	CV568318	single nucleotide variant	NM_013382.7(POMT2):c.248+1G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000702634]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472239]	pathogenic\|likely pathogenic	14	77320433	77320433	Human	1	name
13827526	CV578516	single nucleotide variant	NM_013382.7(POMT2):c.334-3C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000714599]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000714597]\|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RCV000714598]	uncertain significance	14	77306444	77306444	Human	3	name
15118156	CV760116	single nucleotide variant	NM_013382.7(POMT2):c.248+9T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000917923]	likely benign	14	77320425	77320425	Human	1	name
15153257	CV778216	single nucleotide variant	NM_013382.7(POMT2):c.816+8C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000946045]	likely benign	14	77301082	77301082	Human	1	name
28875110	CV872716	single nucleotide variant	NM_013382.7(POMT2):c.*2381A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115748]	uncertain significance	14	77274995	77274995	Human	1	name
28875111	CV872717	single nucleotide variant	NM_013382.7(POMT2):c.*2359A>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115749]	uncertain significance	14	77275017	77275017	Human	1	name
28875114	CV872718	single nucleotide variant	NM_013382.7(POMT2):c.*2200G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115750]	uncertain significance	14	77275176	77275176	Human	1	name
28879321	CV872719	single nucleotide variant	NM_013382.7(POMT2):c.*2080G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117181]	uncertain significance	14	77275296	77275296	Human	1	name
28879323	CV872720	single nucleotide variant	NM_013382.7(POMT2):c.*2077T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117182]	uncertain significance	14	77275299	77275299	Human	1	name
28879329	CV872721	single nucleotide variant	NM_013382.7(POMT2):c.*2053C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117183]	uncertain significance	14	77275323	77275323	Human	1	name
28879332	CV872722	single nucleotide variant	NM_013382.7(POMT2):c.*1906G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117184]	uncertain significance	14	77275470	77275470	Human	1	name
28884663	CV872723	single nucleotide variant	NM_013382.7(POMT2):c.*1893G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118809]	likely benign	14	77275483	77275483	Human	1	name
28884669	CV872724	single nucleotide variant	NM_013382.7(POMT2):c.*1818T>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118810]	uncertain significance	14	77275558	77275558	Human	1	name
28884672	CV872725	single nucleotide variant	NM_013382.7(POMT2):c.*1774C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118811]	uncertain significance	14	77275602	77275602	Human	1	name
28890872	CV872726	single nucleotide variant	NM_013382.7(POMT2):c.*1734A>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120769]	uncertain significance	14	77275642	77275642	Human	1	name
28890874	CV872727	single nucleotide variant	NM_013382.7(POMT2):c.*1641C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120770]	uncertain significance	14	77275735	77275735	Human	1	name
28890878	CV872728	single nucleotide variant	NM_013382.7(POMT2):c.*1548G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120771]	uncertain significance	14	77275828	77275828	Human	1	name
28875302	CV872729	single nucleotide variant	NM_013382.7(POMT2):c.*1474G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115837]	uncertain significance	14	77275902	77275902	Human	1	name
28875305	CV872730	single nucleotide variant	NM_013382.7(POMT2):c.*1317A>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001115838]	uncertain significance	14	77276059	77276059	Human	1	name
28879671	CV872731	single nucleotide variant	NM_013382.7(POMT2):c.*1252C>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117272]	uncertain significance	14	77276124	77276124	Human	1	name
28879675	CV872732	single nucleotide variant	NM_013382.7(POMT2):c.*1043C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117273]	uncertain significance	14	77276333	77276333	Human	1	name
126748220	CV1011252	single nucleotide variant	NM_013382.7(POMT2):c.2147+5G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001315494]	uncertain significance	14	77278389	77278389	Human	1	name
8642453	CV101436	single nucleotide variant	NM_013382.7(POMT2):c.1654-6A>G	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000270588]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001510199]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001789142]\|Muscular dystrophy ... (more) -dystroglycanopathy (congenital with intellectual disability), type B2 [RCV001789143]\|not provided [RCV000576561]\|not specified [RCV000081567]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	14	77280469	77280469	Human	3	name
8642461	CV101444	single nucleotide variant	NM_013382.7(POMT2):c.924-10C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000553099]\|not specified [RCV000081577]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	77298781	77298781	Human	1	name
126917412	CV1048697	single nucleotide variant	NM_013382.7(POMT2):c.1725+4G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001372056]\|POMT2-related disorder [RCV003898357]	likely benign\|uncertain significance	14	77280388	77280388	Human	3	name , alternate_id
127322281	CV1124008	single nucleotide variant	NM_013382.7(POMT2):c.2032+7G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001467521]	likely benign	14	77278722	77278722	Human	1	name
150423315	CV1184924	single nucleotide variant	NM_013382.7(POMT2):c.438+82G>T	not provided [RCV001555154]	likely benign	14	77306255	77306255	Human		name
150413593	CV1191616	deletion	NM_013382.7(POMT2):c.1577-3del	not provided [RCV001567248]	likely benign	14	77283876	77283876	Human		name
150404317	CV1194879	single nucleotide variant	NM_013382.7(POMT2):c.439-93G>A	not provided [RCV001571047]	likely benign	14	77304893	77304893	Human		name
150452804	CV1205574	single nucleotide variant	NM_013382.7(POMT2):c.334-35G>C	not provided [RCV001585475]	likely benign	14	77306476	77306476	Human		name
151723950	CV1344124	single nucleotide variant	NM_013382.7(POMT2):c.1253+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002046466]	likely pathogenic	14	77288761	77288761	Human	1	name
8657649	CV135461	single nucleotide variant	NM_013382.7(POMT2):c.1006+5G>A	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000118039]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001344111]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003474721]\|not provided [RCV0 ... (more) 00725964]\|not specified [RCV003226202]	likely pathogenic\|uncertain significance	14	77298684	77298684	Human	2	name
151822255	CV1395264	single nucleotide variant	NM_013382.7(POMT2):c.1891+2T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001966588]	likely pathogenic	14	77279821	77279821	Human	1	name
151799274	CV1416238	single nucleotide variant	NM_013382.7(POMT2):c.1576+5G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001919552]	uncertain significance	14	77284945	77284945	Human	1	name
151714315	CV1462822	single nucleotide variant	NM_013382.7(POMT2):c.2032+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002015359]	likely pathogenic	14	77278728	77278728	Human	1	name
151789052	CV1476345	single nucleotide variant	NM_013382.7(POMT2):c.248+16G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001899764]	likely benign\|uncertain significance	14	77320418	77320418	Human	1	name
151809597	CV1477461	single nucleotide variant	NM_013382.7(POMT2):c.1653+5G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001939081]	uncertain significance	14	77283792	77283792	Human	1	name
151723312	CV1504156	single nucleotide variant	NM_013382.7(POMT2):c.548-18C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002045155]	likely benign\|uncertain significance	14	77302961	77302961	Human	1	name
151722788	CV1509023	single nucleotide variant	NM_013382.7(POMT2):c.1254-3T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002043515]	uncertain significance	14	77286825	77286825	Human	1	name
152115972	CV1540891	single nucleotide variant	NM_013382.7(POMT2):c.817-10C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002197399]	likely benign	14	77299571	77299571	Human	1	name
152159899	CV1544491	single nucleotide variant	NM_013382.7(POMT2):c.656+16C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002123000]	benign	14	77302819	77302819	Human	1	name
152025581	CV1561502	single nucleotide variant	NM_013382.7(POMT2):c.547+17A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002104259]	likely benign	14	77304675	77304675	Human	1	name
152072615	CV1597831	single nucleotide variant	NM_013382.7(POMT2):c.657-20T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002169492]	likely benign	14	77301269	77301269	Human	1	name
152114704	CV1600233	single nucleotide variant	NM_013382.7(POMT2):c.548-17G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002097316]	likely benign	14	77302960	77302960	Human	1	name
152146747	CV1608008	single nucleotide variant	NM_013382.7(POMT2):c.548-12C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002178836]	likely benign	14	77302955	77302955	Human	1	name
152169023	CV1614041	single nucleotide variant	NM_013382.7(POMT2):c.817-20A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002161309]	likely benign	14	77299581	77299581	Human	1	name
152113459	CV1623883	single nucleotide variant	NM_013382.7(POMT2):c.438+12T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002134786]	likely benign	14	77306325	77306325	Human	1	name
152134828	CV1634338	single nucleotide variant	NM_013382.7(POMT2):c.657-18C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002218572]	likely benign	14	77301267	77301267	Human	1	name
152040581	CV1644161	single nucleotide variant	NM_013382.7(POMT2):c.816+13G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002126032]	likely benign	14	77301077	77301077	Human	1	name
152167827	CV1644861	single nucleotide variant	NM_013382.7(POMT2):c.1484+9C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002142255]	likely benign	14	77285472	77285472	Human	1	name
152146804	CV1649621	single nucleotide variant	NM_013382.7(POMT2):c.817-19C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002121175]	likely benign	14	77299580	77299580	Human	1	name
152124867	CV1665727	single nucleotide variant	NM_013382.7(POMT2):c.1786-5C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002198540]	likely benign	14	77279933	77279933	Human	1	name
9691380	CV172249	single nucleotide variant	NM_013382.7(POMT2):c.1484+1G>T	not provided [RCV000150024]	pathogenic	14	77285480	77285480	Human		name
9692820	CV177617	single nucleotide variant	NM_013382.7(POMT2):c.1726-2A>G	not provided [RCV000153052]	pathogenic	14	77280082	77280082	Human		name
8557281	CV18258	single nucleotide variant	NM_013382.7(POMT2):c.1006+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000003374]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001203685]\|not provided [RCV000379703]	pathogenic\|conflicting interpretations of pathogenicity	14	77298688	77298688	Human	1	name
155800991	CV1863952	single nucleotide variant	NM_013382.7(POMT2):c.1726-8T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003775538]\|not provided [RCV002474376]	likely benign\|uncertain significance	14	77280088	77280088	Human	1	name
156159602	CV1872208	single nucleotide variant	NM_013382.7(POMT2):c.1332+8A>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003056843]	uncertain significance	14	77286736	77286736	Human	1	name
156359069	CV1873956	deletion	NM_013382.7(POMT2):c.1117-7del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003065479]	benign	14	77291387	77291387	Human	1	name
156176685	CV1874728	single nucleotide variant	NM_013382.7(POMT2):c.1654-5T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003041209]	uncertain significance	14	77280468	77280468	Human	1	name
156410537	CV1882569	single nucleotide variant	NM_013382.7(POMT2):c.1577-8T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003072107]	likely benign	14	77283881	77283881	Human	1	name
156039388	CV1890911	single nucleotide variant	NM_013382.7(POMT2):c.1116+8A>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003078452]	likely benign	14	77296156	77296156	Human	1	name
10050188	CV191563	single nucleotide variant	NM_013382.7(POMT2):c.1485-4A>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001078804]\|not provided [RCV000174764]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77285045	77285045	Human	1	name
156291338	CV1926531	single nucleotide variant	NM_013382.7(POMT2):c.1892-1G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002628828]	likely pathogenic	14	77278870	77278870	Human	1	name
156438273	CV1946010	duplication	NM_013382.7(POMT2):c.1577-8dup	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003107820]	benign	14	77283880	77283881	Human	1	name
156074216	CV1969077	single nucleotide variant	NM_013382.7(POMT2):c.438+16T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002621337]	likely benign	14	77306321	77306321	Human	1	name
156352905	CV1985782	single nucleotide variant	NM_013382.7(POMT2):c.548-11A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002632110]	benign	14	77302954	77302954	Human	1	name
156332726	CV1987330	single nucleotide variant	NM_013382.7(POMT2):c.1006+9C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002631023]	likely benign	14	77298680	77298680	Human	1	name
156094941	CV2012764	single nucleotide variant	NM_013382.7(POMT2):c.1891+1G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002706450]	likely pathogenic	14	77279822	77279822	Human	1	name
155940310	CV2022078	deletion	NM_013382.7(POMT2):c.439-18del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002730069]	likely benign	14	77304818	77304818	Human	1	name
156189825	CV2030223	single nucleotide variant	NM_013382.7(POMT2):c.1484+5G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002765874]	uncertain significance	14	77285476	77285476	Human	1	name
156017413	CV2046991	single nucleotide variant	NM_013382.7(POMT2):c.816+14G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002757007]	likely benign	14	77301076	77301076	Human	1	name
155927517	CV2070914	single nucleotide variant	NM_013382.7(POMT2):c.656+18C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002838598]	likely benign	14	77302817	77302817	Human	1	name
155969477	CV2077117	single nucleotide variant	NM_013382.7(POMT2):c.657-14T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002863244]	likely benign	14	77301263	77301263	Human	1	name
156235550	CV2104964	single nucleotide variant	NM_013382.7(POMT2):c.657-17G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002919102]	likely benign	14	77301266	77301266	Human	1	name
156202754	CV2110127	single nucleotide variant	NM_013382.7(POMT2):c.1654-6A>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002957441]	likely benign	14	77280469	77280469	Human	1	name
156392738	CV2123608	single nucleotide variant	NM_013382.7(POMT2):c.1654-2A>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002944078]	likely pathogenic	14	77280465	77280465	Human	1	name
156377332	CV2124279	single nucleotide variant	NM_013382.7(POMT2):c.2032+8C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002942844]	likely benign	14	77278721	77278721	Human	1	name
155963609	CV2140896	single nucleotide variant	NM_013382.7(POMT2):c.924-16C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003015591]	likely benign	14	77298787	77298787	Human	1	name
156224446	CV2144396	single nucleotide variant	NM_013382.7(POMT2):c.1484+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003007507]	likely pathogenic	14	77285480	77285480	Human	1	name
155998039	CV2167857	deletion	NM_013382.7(POMT2):c.547+16del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003034639]	likely benign	14	77304676	77304676	Human	1	name
156214755	CV2176534	single nucleotide variant	NM_013382.7(POMT2):c.334-13C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003024953]	likely benign	14	77306454	77306454	Human	1	name
243050933	CV2413530	single nucleotide variant	NM_013382.7(POMT2):c.1653+3A>T	not provided [RCV003130327]	uncertain significance	14	77283794	77283794	Human		name
11552031	CV255072	deletion	NM_013382.7(POMT2):c.1577-8del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001503676]\|not specified [RCV000253837]	likely benign	14	77283881	77283881	Human	1	name
11548546	CV255079	single nucleotide variant	NM_013382.7(POMT2):c.817-18G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002058241]\|not provided [RCV004703545]\|not specified [RCV000249232]	likely benign	14	77299579	77299579	Human	1	name
11544808	CV255080	single nucleotide variant	NM_013382.7(POMT2):c.439-45C>T	not provided [RCV004705101]\|not specified [RCV000244284]	likely benign	14	77304845	77304845	Human		name
11551174	CV255081	single nucleotide variant	NM_013382.7(POMT2):c.334-45T>C	not provided [RCV000826806]\|not specified [RCV000252701]	benign	14	77306486	77306486	Human		name
329952255	CV2668952	deletion	NM_013382.7(POMT2):c.2147+1del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003475553]\|not specified [RCV003231037]	likely pathogenic\|uncertain significance	14	77278393	77278393	Human	1	name
11640601	CV267270	single nucleotide variant	NM_013382.7(POMT2):c.1654-8T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000699063]\|not provided [RCV000712834]\|not specified [RCV000340714]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77280471	77280471	Human	1	name
11640815	CV268273	single nucleotide variant	NM_013382.7(POMT2):c.1726-9A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765614]\|not provided [RCV000344431]	likely benign\|uncertain significance	14	77280089	77280089	Human	1	name
11638419	CV272652	single nucleotide variant	NM_013382.7(POMT2):c.1116+4A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002519302]\|not provided [RCV000302179]	uncertain significance	14	77296160	77296160	Human	1	name
11636678	CV273716	single nucleotide variant	NM_013382.7(POMT2):c.1117-7C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002518086]\|not provided [RCV000272937]	likely benign\|uncertain significance	14	77291387	77291387	Human	1	name
11642602	CV273876	single nucleotide variant	NM_013382.7(POMT2):c.1726-9A>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001445245]\|not provided [RCV000726355]\|not specified [RCV000378448]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77280089	77280089	Human	1	name
401948721	CV2835170	single nucleotide variant	NM_013382.7(POMT2):c.1184-1G>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV004577041]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472502]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005012969]	likely pathogenic	14	77288832	77288832	Human	2	name
401948728	CV2835177	single nucleotide variant	NM_013382.7(POMT2):c.1183+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472509]	likely pathogenic	14	77291313	77291313	Human	1	name
401948731	CV2835180	single nucleotide variant	NM_013382.7(POMT2):c.1786-2A>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472512]	likely pathogenic	14	77279930	77279930	Human	1	name
401948732	CV2835181	single nucleotide variant	NM_013382.7(POMT2):c.1254-2A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472513]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003779076]	likely pathogenic	14	77286824	77286824	Human	1	name
404984909	CV2851715	single nucleotide variant	NM_013382.7(POMT2):c.1653+1G>A	not provided [RCV003489409]	likely pathogenic	14	77283796	77283796	Human		name
405028985	CV3082547	single nucleotide variant	NM_013382.7(POMT2):c.334-16G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785998]	likely benign	14	77306457	77306457	Human	1	name
404991044	CV3084252	single nucleotide variant	NM_013382.7(POMT2):c.656+19G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003782445]	likely benign	14	77302816	77302816	Human	1	name
405049342	CV3084517	single nucleotide variant	NM_013382.7(POMT2):c.923+19C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003797924]	likely benign	14	77299436	77299436	Human	1	name
405023244	CV3084948	single nucleotide variant	NM_013382.7(POMT2):c.547+12T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003795814]	likely benign	14	77304680	77304680	Human	1	name
405023419	CV3084964	single nucleotide variant	NM_013382.7(POMT2):c.923+12G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003795830]	likely benign	14	77299443	77299443	Human	1	name
404996139	CV3085461	single nucleotide variant	NM_013382.7(POMT2):c.2147+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003782992]	pathogenic	14	77278393	77278393	Human	1	name
404997895	CV3085760	single nucleotide variant	NM_013382.7(POMT2):c.656+17C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783130]	likely benign	14	77302818	77302818	Human	1	name
402509587	CV3086977	single nucleotide variant	NM_013382.7(POMT2):c.438+16T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789487]	likely benign	14	77306321	77306321	Human	1	name
404983902	CV3087185	single nucleotide variant	NM_013382.7(POMT2):c.548-16A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781648]	likely benign	14	77302959	77302959	Human	1	name
402509333	CV3088912	duplication	NM_013382.7(POMT2):c.1785+6dup	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780116]	likely benign	14	77280014	77280015	Human	1	name
404993758	CV3089090	single nucleotide variant	NM_013382.7(POMT2):c.1785+8C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003782736]	likely benign	14	77280013	77280013	Human	1	name
402504791	CV3090228	single nucleotide variant	NM_013382.7(POMT2):c.1725+8C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788996]	likely benign	14	77280384	77280384	Human	1	name
402489021	CV3090860	single nucleotide variant	NM_013382.7(POMT2):c.249-19C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787362]	likely benign	14	77312052	77312052	Human	1	name
404992071	CV3091366	single nucleotide variant	NM_013382.7(POMT2):c.548-14C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003792840]	likely benign	14	77302957	77302957	Human	1	name
402493653	CV3092195	single nucleotide variant	NM_013382.7(POMT2):c.248+18C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787814]	likely benign	14	77320416	77320416	Human	1	name
402496167	CV3092492	single nucleotide variant	NM_013382.7(POMT2):c.248+19T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788112]	likely benign	14	77320415	77320415	Human	1	name
402496996	CV3092550	single nucleotide variant	NM_013382.7(POMT2):c.924-12C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788170]	likely benign	14	77298783	77298783	Human	1	name
405034445	CV3093062	single nucleotide variant	NM_013382.7(POMT2):c.1577-7C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003786413]	likely benign	14	77283880	77283880	Human	1	name
405016387	CV3094006	single nucleotide variant	NM_013382.7(POMT2):c.657-15C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003784856]	likely benign	14	77301264	77301264	Human	1	name
402489688	CV3094243	single nucleotide variant	NM_013382.7(POMT2):c.1785+7G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787285]	likely benign	14	77280014	77280014	Human	1	name
405002082	CV3095556	single nucleotide variant	NM_013382.7(POMT2):c.1254-6T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003793859]	likely benign	14	77286828	77286828	Human	1	name
405002846	CV3095624	single nucleotide variant	NM_013382.7(POMT2):c.656+20G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003793929]	likely benign	14	77302815	77302815	Human	1	name
404983298	CV3096323	single nucleotide variant	NM_013382.7(POMT2):c.2033-7C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791872]	likely benign	14	77278515	77278515	Human	1	name
405044537	CV3097192	single nucleotide variant	NM_013382.7(POMT2):c.333+18T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003807772]	likely benign	14	77311931	77311931	Human	1	name
405046651	CV3097344	single nucleotide variant	NM_013382.7(POMT2):c.333+10G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003807924]	likely benign	14	77311939	77311939	Human	1	name
405000390	CV3099285	single nucleotide variant	NM_013382.7(POMT2):c.1333-6T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003793706]	likely benign	14	77285638	77285638	Human	1	name
405071910	CV3099781	single nucleotide variant	NM_013382.7(POMT2):c.924-12C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003799496]	likely benign	14	77298783	77298783	Human	1	name
404982911	CV3100158	single nucleotide variant	NM_013382.7(POMT2):c.249-15C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791825]	likely benign	14	77312048	77312048	Human	1	name
405076967	CV3100355	single nucleotide variant	NM_013382.7(POMT2):c.1892-5C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003799908]	likely benign	14	77278874	77278874	Human	1	name
405020614	CV3101219	single nucleotide variant	NM_013382.7(POMT2):c.656+10T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003805798]	likely benign	14	77302825	77302825	Human	1	name
405061084	CV3102838	single nucleotide variant	NM_013382.7(POMT2):c.1117-7C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003798828]	likely benign	14	77291387	77291387	Human	1	name
405042076	CV3103669	single nucleotide variant	NM_013382.7(POMT2):c.249-18T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003797387]	likely benign	14	77312051	77312051	Human	1	name
405174310	CV3104869	single nucleotide variant	NM_013382.7(POMT2):c.1007-9T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003803367]	likely benign	14	77296282	77296282	Human	1	name
405059221	CV3105904	single nucleotide variant	NM_013382.7(POMT2):c.657-18C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003798707]	likely benign	14	77301267	77301267	Human	1	name
405059874	CV3105927	single nucleotide variant	NM_013382.7(POMT2):c.1786-4A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003798730]	likely benign	14	77279932	77279932	Human	1	name
405040386	CV3106733	single nucleotide variant	NM_013382.7(POMT2):c.248+13A>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003797262]	likely benign	14	77320421	77320421	Human	1	name
405156116	CV3109291	single nucleotide variant	NM_013382.7(POMT2):c.547+10C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801814]	likely benign	14	77304682	77304682	Human	1	name
405110533	CV3110637	single nucleotide variant	NM_013382.7(POMT2):c.817-14G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003813540]	likely benign	14	77299575	77299575	Human	1	name
405155073	CV3111275	single nucleotide variant	NM_013382.7(POMT2):c.249-16T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801731]	likely benign	14	77312049	77312049	Human	1	name
405070140	CV3111328	single nucleotide variant	NM_013382.7(POMT2):c.1184-5G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003809667]	likely benign	14	77288836	77288836	Human	1	name
405039403	CV3112726	single nucleotide variant	NM_013382.7(POMT2):c.248+15G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003807393]	likely benign	14	77320419	77320419	Human	1	name
405040926	CV3112831	single nucleotide variant	NM_013382.7(POMT2):c.923+20A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003807498]	likely benign	14	77299435	77299435	Human	1	name
405107294	CV3113749	single nucleotide variant	NM_013382.7(POMT2):c.923+12G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003812872]	likely benign	14	77299443	77299443	Human	1	name
405164596	CV3114058	single nucleotide variant	NM_013382.7(POMT2):c.249-19C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003802472]	likely benign	14	77312052	77312052	Human	1	name
405013542	CV3114262	single nucleotide variant	NM_013382.7(POMT2):c.1484+7C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003805116]	likely benign	14	77285474	77285474	Human	1	name
405104739	CV3114483	single nucleotide variant	NM_013382.7(POMT2):c.249-11G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003812322]	likely benign	14	77312044	77312044	Human	1	name
405080418	CV3114810	single nucleotide variant	NM_013382.7(POMT2):c.1786-7T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003810373]	likely benign	14	77279935	77279935	Human	1	name
11616091	CV330762	microsatellite	NM_013382.7(POMT2):c.*678AG[2]	Limb-girdle muscular dystrophy, recessive [RCV000291385]	uncertain significance	14	77276693	77276694	Human		name
407457577	CV3416194	single nucleotide variant	NM_013382.7(POMT2):c.1117-1G>C	not provided [RCV004599072]	pathogenic	14	77291381	77291381	Human		name
408393553	CV3529489	single nucleotide variant	NM_013382.7(POMT2):c.1253+5G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004776331]	likely pathogenic	14	77288757	77288757	Human	1	name
597706276	CV3711008	single nucleotide variant	NM_013382.7(POMT2):c.1653+1G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005009289]	likely pathogenic	14	77283796	77283796	Human	1	name
597706327	CV3711013	single nucleotide variant	NM_013382.7(POMT2):c.1006+1G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005009294]	likely pathogenic	14	77298688	77298688	Human	1	name
12845975	CV373920	single nucleotide variant	NM_013382.7(POMT2):c.1254-7C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002063501]\|not specified [RCV000440772]	likely benign	14	77286829	77286829	Human	1	name
597895616	CV3865396	single nucleotide variant	NM_013382.7(POMT2):c.1654-4G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005219519]	likely benign	14	77280467	77280467	Human	1	name
597909279	CV3867165	single nucleotide variant	NM_013382.7(POMT2):c.333+20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005221630]	likely benign	14	77311929	77311929	Human	1	name
597878466	CV3871927	single nucleotide variant	NM_013382.7(POMT2):c.1891+1G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005216978]	likely pathogenic	14	77279822	77279822	Human	1	name
597850426	CV3873271	single nucleotide variant	NM_013382.7(POMT2):c.817-15G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005212713]	likely benign	14	77299576	77299576	Human	1	name
597899191	CV3876173	single nucleotide variant	NM_013382.7(POMT2):c.656+20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005220063]	likely benign	14	77302815	77302815	Human	1	name
597846759	CV3876332	single nucleotide variant	NM_013382.7(POMT2):c.2147+7A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005212226]	likely benign	14	77278387	77278387	Human	1	name
597846784	CV3876336	single nucleotide variant	NM_013382.7(POMT2):c.923+14C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005212230]	likely benign	14	77299441	77299441	Human	1	name
12894016	CV409155	deletion	NM_013382.7(POMT2):c.1006+1del	not provided [RCV000481157]	pathogenic	14	77298688	77298688	Human		name
13517057	CV488399	single nucleotide variant	NM_013382.7(POMT2):c.2147+2T>G	not provided [RCV000596276]	uncertain significance	14	77278392	77278392	Human		name
13515787	CV491959	single nucleotide variant	NM_013382.7(POMT2):c.1485-3C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001368611]\|not provided [RCV000712832]	uncertain significance	14	77285044	77285044	Human	1	name
13523280	CV493058	single nucleotide variant	NM_013382.7(POMT2):c.2147+9C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003767398]\|not provided [RCV000592794]	likely benign\|uncertain significance	14	77278385	77278385	Human	1	name
13537852	CV504623	single nucleotide variant	NM_013382.7(POMT2):c.439-16T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002528801]\|not specified [RCV000610977]	likely benign	14	77304816	77304816	Human	1	name
13539816	CV505136	single nucleotide variant	NM_013382.7(POMT2):c.1253+9A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001450640]\|POMT2-related disorder [RCV003962790]\|not specified [RCV000613796]	likely benign	14	77288753	77288753	Human	3	name , alternate_id
13540757	CV505554	single nucleotide variant	NM_013382.7(POMT2):c.248+20C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002528800]\|not specified [RCV000615155]	likely benign\|uncertain significance	14	77320414	77320414	Human	1	name
13814728	CV566635	single nucleotide variant	NM_013382.7(POMT2):c.2148-6T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000705228]	likely benign\|uncertain significance	14	77277487	77277487	Human	1	name
13820795	CV566642	single nucleotide variant	NM_013382.7(POMT2):c.1653+4T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000695110]	uncertain significance	14	77283793	77283793	Human	1	name
13837636	CV588927	single nucleotide variant	NM_013382.7(POMT2):c.1786-8C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001452560]\|not provided [RCV000734116]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77279936	77279936	Human	1	name
14707286	CV666673	single nucleotide variant	NM_013382.7(POMT2):c.816+51T>C	not provided [RCV000826791]	benign	14	77301039	77301039	Human		name
14733145	CV666676	single nucleotide variant	NM_013382.7(POMT2):c.548-77C>G	not provided [RCV000836967]	likely benign	14	77303020	77303020	Human		name
14726072	CV667427	single nucleotide variant	NM_013382.7(POMT2):c.438+81C>T	not provided [RCV000833712]	benign	14	77306256	77306256	Human		name
15171866	CV744711	single nucleotide variant	NM_013382.7(POMT2):c.1117-7C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003768792]	likely benign	14	77291387	77291387	Human	1	name
15104121	CV775945	single nucleotide variant	NM_013382.7(POMT2):c.1654-5T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002066163]	likely benign	14	77280468	77280468	Human	1	name
15117768	CV787924	single nucleotide variant	NM_013382.7(POMT2):c.1254-9A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001397193]	likely benign	14	77286831	77286831	Human	1	name
15141845	CV788143	single nucleotide variant	NM_013382.7(POMT2):c.2147+7A>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003769282]	likely benign	14	77278387	77278387	Human	1	name
21404555	CV802194	duplication	NM_013382.7(POMT2):c.1726-1dup	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001004949]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005012437]	pathogenic\|likely pathogenic	14	77280078	77280079	Human	2	name
26901341	CV851589	single nucleotide variant	NM_013382.7(POMT2):c.1654-7C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001071543]	likely benign\|uncertain significance	14	77280470	77280470	Human	1	name
28875753	CV876456	single nucleotide variant	NM_013382.7(POMT2):c.1183+6G>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001116052]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002556288]	uncertain significance	14	77291308	77291308	Human	2	name
28880321	CV876457	single nucleotide variant	NM_013382.7(POMT2):c.547+14G>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117496]	uncertain significance	14	77304678	77304678	Human	1	name
38494321	CV941069	single nucleotide variant	NM_013382.7(POMT2):c.1332+4A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001224887]\|not provided [RCV001760216]	uncertain significance	14	77286740	77286740	Human	1	name
8642449	CV101432	single nucleotide variant	NM_013382.7(POMT2):c.1117-20C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001511532]\|not provided [RCV004714417]\|not specified [RCV000081562]	benign	14	77291400	77291400	Human	1	name
127295235	CV1157354	single nucleotide variant	NM_013382.7(POMT2):c.1654-10C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001512091]\|not specified [RCV001821811]	benign\|uncertain significance	14	77280473	77280473	Human	1	name
150335780	CV1165065	single nucleotide variant	NM_013382.7(POMT2):c.248+325T>G	not provided [RCV001530550]	likely benign	14	77320109	77320109	Human		name
150340138	CV1168310	single nucleotide variant	NM_013382.7(POMT2):c.1117-19G>C	not provided [RCV001535029]	likely benign	14	77291399	77291399	Human		name
150411529	CV1177819	single nucleotide variant	NM_013382.7(POMT2):c.548-300G>A	not provided [RCV001547208]	likely benign	14	77303243	77303243	Human		name
150427201	CV1188158	single nucleotide variant	NM_013382.7(POMT2):c.1725+51G>C	not provided [RCV001560618]	likely benign	14	77280341	77280341	Human		name
150427256	CV1188159	deletion	NM_013382.7(POMT2):c.923+184del	not provided [RCV001560688]	likely benign	14	77299271	77299271	Human		name
150428485	CV1188160	single nucleotide variant	NM_013382.7(POMT2):c.923+164T>C	not provided [RCV001562325]	likely benign	14	77299291	77299291	Human		name
150414237	CV1191617	single nucleotide variant	NM_013382.7(POMT2):c.1485-74G>C	not provided [RCV001567453]	likely benign	14	77285115	77285115	Human		name
150412162	CV1198569	single nucleotide variant	NM_013382.7(POMT2):c.548-280G>A	not provided [RCV001574277]	likely benign	14	77303223	77303223	Human		name
150437486	CV1200989	single nucleotide variant	NM_013382.7(POMT2):c.548-153C>T	not provided [RCV001583069]	likely benign	14	77303096	77303096	Human		name
150476433	CV1203038	single nucleotide variant	NM_013382.7(POMT2):c.657-144C>T	not provided [RCV001589632]	likely benign	14	77301393	77301393	Human		name
150462298	CV1206570	single nucleotide variant	NM_013382.7(POMT2):c.333+188A>C	not provided [RCV001586971]	likely benign	14	77311761	77311761	Human		name
150463735	CV1206774	single nucleotide variant	NM_013382.7(POMT2):c.1183+67A>G	not provided [RCV001587175]	likely benign	14	77291247	77291247	Human		name
150487958	CV1208181	single nucleotide variant	NM_013382.7(POMT2):c.817-105A>G	not provided [RCV001592041]	likely benign	14	77299666	77299666	Human		name
150488090	CV1208200	single nucleotide variant	NM_013382.7(POMT2):c.1007-56C>T	not provided [RCV001592060]	likely benign	14	77296329	77296329	Human		name
150469960	CV1209236	single nucleotide variant	NM_013382.7(POMT2):c.1786-43A>C	not provided [RCV001588347]	likely benign	14	77279971	77279971	Human		name
150452793	CV1219758	duplication	NM_013382.7(POMT2):c.816+257dup	not provided [RCV001612139]	benign	14	77300819	77300820	Human		name
150454751	CV1220338	single nucleotide variant	NM_013382.7(POMT2):c.1007-88A>G	not provided [RCV001612430]	benign	14	77296361	77296361	Human		name
150499911	CV1224684	single nucleotide variant	NM_013382.7(POMT2):c.248+151G>A	not provided [RCV001620516]	benign	14	77320283	77320283	Human		name
150503230	CV1241757	single nucleotide variant	NM_013382.7(POMT2):c.438+267A>G	not provided [RCV001657348]	benign	14	77306070	77306070	Human		name
150473102	CV1252352	single nucleotide variant	NM_013382.7(POMT2):c.923+341A>G	not provided [RCV001671554]	benign	14	77299114	77299114	Human		name
150464967	CV1268531	single nucleotide variant	NM_013382.7(POMT2):c.438+159A>T	not provided [RCV001694227]	benign	14	77306178	77306178	Human		name
8692521	CV142490	single nucleotide variant	NM_013382.7(POMT2):c.2148-18A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002055756]\|not provided [RCV001795240]\|not specified [RCV000127579]	benign\|likely benign	14	77277499	77277499	Human	1	name
151809709	CV1451286	single nucleotide variant	NM_013382.7(POMT2):c.1117-12C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001939330]	likely benign	14	77291392	77291392	Human	1	name
151779427	CV1469655	single nucleotide variant	NM_013382.7(POMT2):c.1117-12C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001880868]	uncertain significance	14	77291392	77291392	Human	1	name
152166521	CV1524385	single nucleotide variant	NM_013382.7(POMT2):c.1183+13G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002141941]	likely benign	14	77291301	77291301	Human	1	name
152161237	CV1531042	single nucleotide variant	NM_013382.7(POMT2):c.1786-12A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002123233]	likely benign	14	77279940	77279940	Human	1	name
152081384	CV1548256	single nucleotide variant	NM_013382.7(POMT2):c.1653+17C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002076415]	likely benign	14	77283780	77283780	Human	1	name
152147414	CV1558764	single nucleotide variant	NM_013382.7(POMT2):c.2032+15C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002157643]	likely benign	14	77278714	77278714	Human	1	name
152176125	CV1562377	single nucleotide variant	NM_013382.7(POMT2):c.1891+13G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002164265]	likely benign	14	77279810	77279810	Human	1	name
152113989	CV1573587	single nucleotide variant	NM_013382.7(POMT2):c.1726-19G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002215881]	likely benign	14	77280099	77280099	Human	1	name
152101146	CV1578839	single nucleotide variant	NM_013382.7(POMT2):c.1184-14T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002079007]	likely benign	14	77288845	77288845	Human	1	name
152128967	CV1583824	single nucleotide variant	NM_013382.7(POMT2):c.2032+19G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002199068]	likely benign	14	77278710	77278710	Human	1	name
152027927	CV1607561	single nucleotide variant	NM_013382.7(POMT2):c.1484+14G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002105060]	likely benign	14	77285467	77285467	Human	1	name
152122994	CV1613643	single nucleotide variant	NM_013382.7(POMT2):c.1332+14G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002081816]\|not provided [RCV004706367]	likely benign	14	77286730	77286730	Human	1	name
152169110	CV1614082	single nucleotide variant	NM_013382.7(POMT2):c.2033-16C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002161338]	likely benign	14	77278524	77278524	Human	1	name
152049037	CV1615080	single nucleotide variant	NM_013382.7(POMT2):c.2032+19G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002088910]	likely benign	14	77278710	77278710	Human	1	name
152055574	CV1648893	single nucleotide variant	NM_013382.7(POMT2):c.1333-13G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002072889]\|POMT2-related disorder [RCV003892189]	likely benign	14	77285645	77285645	Human	3	name , alternate_id
152147113	CV1656051	single nucleotide variant	NM_013382.7(POMT2):c.2148-15G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002220219]	likely benign	14	77277496	77277496	Human	1	name
9691376	CV172252	single nucleotide variant	NM_013382.7(POMT2):c.1183+14A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002498686]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002055947]\|not provided [RCV004715742]\|not specified [RCV000150018]	benign\|likely benign	14	77291300	77291300	Human	2	name
9691377	CV172253	deletion	NM_013382.7(POMT2):c.-47_-44del	Congenital muscular dystrophy [RCV000150019]\|Limb-girdle muscular dystrophy, recessive [RCV000306241]	benign\|uncertain significance	14	77320725	77320728	Human	3	name
8557295	CV18274	single nucleotide variant	NM_013382.7(POMT2):c.1333-14G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000003391]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001851613]\|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RC ... (more) V003480018]	pathogenic\|likely pathogenic	14	77285646	77285646	Human	3	name
156057792	CV1867850	single nucleotide variant	NM_013382.7(POMT2):c.1654-12A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003037147]	likely benign	14	77280475	77280475	Human	1	name
156409749	CV1881609	single nucleotide variant	NM_013382.7(POMT2):c.1892-14C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003071798]	likely benign	14	77278883	77278883	Human	1	name
156124194	CV1892775	single nucleotide variant	NM_013382.7(POMT2):c.1254-16C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003081569]	likely benign	14	77286838	77286838	Human	1	name
156309366	CV1928232	single nucleotide variant	NM_013382.7(POMT2):c.1007-20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002648065]	likely benign	14	77296293	77296293	Human	1	name
156446136	CV1951163	single nucleotide variant	NM_013382.7(POMT2):c.2033-18T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003117100]	likely benign	14	77278526	77278526	Human	1	name
156011637	CV1988120	single nucleotide variant	NM_013382.7(POMT2):c.1786-15C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002618936]	likely benign	14	77279943	77279943	Human	1	name
156125182	CV1992908	single nucleotide variant	NM_013382.7(POMT2):c.1332+10C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002623098]	likely benign	14	77286734	77286734	Human	1	name
156030778	CV2022652	single nucleotide variant	NM_013382.7(POMT2):c.1576+13A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002735799]	likely benign	14	77284937	77284937	Human	1	name
155946080	CV2028899	single nucleotide variant	NM_013382.7(POMT2):c.1654-11C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002730409]	likely benign	14	77280474	77280474	Human	1	name
155943356	CV2062009	single nucleotide variant	NM_013382.7(POMT2):c.2147+14C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002815834]	likely benign	14	77278380	77278380	Human	1	name
156201216	CV2080330	single nucleotide variant	NM_013382.7(POMT2):c.1007-15C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002852474]	likely benign	14	77296288	77296288	Human	1	name
156106295	CV2089108	single nucleotide variant	NM_013382.7(POMT2):c.1653+20T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002848269]	likely benign	14	77283777	77283777	Human	1	name
156226976	CV2115356	single nucleotide variant	NM_013382.7(POMT2):c.1892-16T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002918788]	likely benign	14	77278885	77278885	Human	1	name
156218563	CV2132659	single nucleotide variant	NM_013382.7(POMT2):c.1725+19G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003007285]	likely benign	14	77280373	77280373	Human	1	name
156315894	CV2140254	single nucleotide variant	NM_013382.7(POMT2):c.1892-15G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003011383]	likely benign	14	77278884	77278884	Human	1	name
156109146	CV2177227	single nucleotide variant	NM_013382.7(POMT2):c.1891+14G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003055021]	likely benign	14	77279809	77279809	Human	1	name
156145044	CV2190266	single nucleotide variant	NM_013382.7(POMT2):c.1333-16T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003056328]	likely benign	14	77285648	77285648	Human	1	name
11546567	CV255068	single nucleotide variant	NM_013382.7(POMT2):c.1891+49C>T	not provided [RCV000826813]\|not specified [RCV000246629]	benign\|likely benign\|conflicting interpretations of pathogenicity	14	77279774	77279774	Human		name
11542818	CV255069	single nucleotide variant	NM_013382.7(POMT2):c.1786-39C>T	not provided [RCV000830218]\|not specified [RCV000241641]	benign\|likely benign	14	77279967	77279967	Human		name
11546634	CV255070	single nucleotide variant	NM_013382.7(POMT2):c.1654-41G>C	not provided [RCV004714592]\|not specified [RCV000246720]	benign	14	77280504	77280504	Human		name
11543180	CV255071	single nucleotide variant	NM_013382.7(POMT2):c.1653+38G>A	not provided [RCV004703544]\|not specified [RCV000242117]	likely benign	14	77283759	77283759	Human		name
11552101	CV255074	single nucleotide variant	NM_013382.7(POMT2):c.1332+13C>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120974]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001522073]\|not provided [RCV001705370]\|not specified [RCV000253926]	benign\|likely benign\|uncertain significance	14	77286731	77286731	Human	2	name
11544899	CV255076	single nucleotide variant	NM_013382.7(POMT2):c.1184-47A>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001789305]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001789303]\|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RCV001789304]\|not provided [RCV0 ... (more) 00833474]\|not specified [RCV000244410]	benign	14	77288878	77288878	Human	3	name
11544091	CV255077	single nucleotide variant	NM_013382.7(POMT2):c.1116+35A>G	not provided [RCV001567856]\|not specified [RCV000243326]	benign\|likely benign	14	77296129	77296129	Human		name
11550114	CV255078	single nucleotide variant	NM_013382.7(POMT2):c.1007-32G>A	not provided [RCV000835090]\|not specified [RCV000251306]	benign\|likely benign	14	77296305	77296305	Human		name
401962724	CV2845346	single nucleotide variant	NM_013382.7(POMT2):c.1006+10T>C	not provided [RCV003482807]	uncertain significance	14	77298679	77298679	Human		name
405023829	CV3081978	single nucleotide variant	NM_013382.7(POMT2):c.1006+16C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785584]	likely benign	14	77298673	77298673	Human	1	name
402492745	CV3082179	single nucleotide variant	NM_013382.7(POMT2):c.1576+20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787739]	likely benign	14	77284930	77284930	Human	1	name
405026316	CV3082320	single nucleotide variant	NM_013382.7(POMT2):c.1332+17G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785770]	likely benign	14	77286727	77286727	Human	1	name
405005377	CV3082742	single nucleotide variant	NM_013382.7(POMT2):c.1117-19G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783841]	likely benign	14	77291399	77291399	Human	1	name
405009574	CV3083261	single nucleotide variant	NM_013382.7(POMT2):c.1726-11C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003784208]	likely benign	14	77280091	77280091	Human	1	name
404990376	CV3084185	single nucleotide variant	NM_013382.7(POMT2):c.1332+20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003782378]	likely benign	14	77286724	77286724	Human	1	name
404990574	CV3084205	single nucleotide variant	NM_013382.7(POMT2):c.1332+12A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003782398]	likely benign	14	77286732	77286732	Human	1	name
405024472	CV3085055	deletion	NM_013382.7(POMT2):c.1253+16del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003795921]	likely benign	14	77288746	77288746	Human	1	name
404996981	CV3085539	single nucleotide variant	NM_013382.7(POMT2):c.1726-20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783070]	likely benign	14	77280100	77280100	Human	1	name
402520594	CV3086280	single nucleotide variant	NM_013382.7(POMT2):c.1725+17G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781053]	likely benign	14	77280375	77280375	Human	1	name
404982470	CV3086847	single nucleotide variant	NM_013382.7(POMT2):c.1117-11C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781465]	likely benign	14	77291391	77291391	Human	1	name
402509360	CV3086949	single nucleotide variant	NM_013382.7(POMT2):c.1576+14C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789459]	likely benign	14	77284936	77284936	Human	1	name
404984683	CV3087292	single nucleotide variant	NM_013382.7(POMT2):c.1116+10C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781755]	likely benign	14	77296154	77296154	Human	1	name
405018955	CV3087849	single nucleotide variant	NM_013382.7(POMT2):c.1117-12C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003795409]	likely benign	14	77291392	77291392	Human	1	name
402509276	CV3088905	single nucleotide variant	NM_013382.7(POMT2):c.1653+11C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780109]	likely benign	14	77283786	77283786	Human	1	name
402509607	CV3089118	single nucleotide variant	NM_013382.7(POMT2):c.2033-14C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780149]	likely benign	14	77278522	77278522	Human	1	name
402511216	CV3089172	single nucleotide variant	NM_013382.7(POMT2):c.1785+15A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780204]	likely benign	14	77280006	77280006	Human	1	name
402504236	CV3090155	single nucleotide variant	NM_013382.7(POMT2):c.1891+16C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788922]	likely benign	14	77279807	77279807	Human	1	name
402508595	CV3090746	single nucleotide variant	NM_013382.7(POMT2):c.1725+11A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789363]	likely benign	14	77280381	77280381	Human	1	name
402508883	CV3090781	single nucleotide variant	NM_013382.7(POMT2):c.1726-11C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789398]	likely benign	14	77280091	77280091	Human	1	name
402511629	CV3091240	single nucleotide variant	NM_013382.7(POMT2):c.1725+18G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789698]	likely benign	14	77280374	77280374	Human	1	name
402517953	CV3091770	single nucleotide variant	NM_013382.7(POMT2):c.1725+14C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003790216]	likely benign	14	77280378	77280378	Human	1	name
402493960	CV3092226	single nucleotide variant	NM_013382.7(POMT2):c.1333-17C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787845]	likely benign	14	77285649	77285649	Human	1	name
402495333	CV3092404	single nucleotide variant	NM_013382.7(POMT2):c.1653+14T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788024]	likely benign	14	77283783	77283783	Human	1	name
402495476	CV3092418	single nucleotide variant	NM_013382.7(POMT2):c.1007-13C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788038]	likely benign	14	77296286	77296286	Human	1	name
402499326	CV3092943	single nucleotide variant	NM_013382.7(POMT2):c.1117-19G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788407]	likely benign	14	77291399	77291399	Human	1	name
405012407	CV3093468	single nucleotide variant	NM_013382.7(POMT2):c.1253+13G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003784472]	likely benign	14	77288749	77288749	Human	1	name
402484312	CV3093661	single nucleotide variant	NM_013382.7(POMT2):c.2147+15A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003786860]	likely benign	14	77278379	77278379	Human	1	name
405019053	CV3094138	single nucleotide variant	NM_013382.7(POMT2):c.1183+11C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003784988]	likely benign	14	77291303	77291303	Human	1	name
405018925	CV3094149	single nucleotide variant	NM_013382.7(POMT2):c.2148-20C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003784999]	likely benign	14	77277501	77277501	Human	1	name
405017731	CV3094163	single nucleotide variant	NM_013382.7(POMT2):c.1007-12C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785013]	likely benign	14	77296285	77296285	Human	1	name
405033200	CV3095416	single nucleotide variant	NM_013382.7(POMT2):c.1484+13G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003796622]	likely benign	14	77285468	77285468	Human	1	name
405006114	CV3096057	single nucleotide variant	NM_013382.7(POMT2):c.1725+15T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003794207]	likely benign	14	77280377	77280377	Human	1	name
404984185	CV3096427	single nucleotide variant	NM_013382.7(POMT2):c.1653+10C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791976]	likely benign	14	77283787	77283787	Human	1	name
405049682	CV3097571	single nucleotide variant	NM_013382.7(POMT2):c.1484+19G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003808151]	likely benign	14	77285462	77285462	Human	1	name
405024386	CV3097678	single nucleotide variant	NM_013382.7(POMT2):c.1485-14T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003806139]	likely benign	14	77285055	77285055	Human	1	name
405052367	CV3097942	single nucleotide variant	NM_013382.7(POMT2):c.1485-20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003808355]	likely benign	14	77285061	77285061	Human	1	name
405031567	CV3098614	single nucleotide variant	NM_013382.7(POMT2):c.2033-11C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003806737]	likely benign	14	77278519	77278519	Human	1	name
404979802	CV3099481	single nucleotide variant	NM_013382.7(POMT2):c.2147+13G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791309]	likely benign	14	77278381	77278381	Human	1	name
404980719	CV3099638	single nucleotide variant	NM_013382.7(POMT2):c.2033-14C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791467]	likely benign	14	77278522	77278522	Human	1	name
404983080	CV3100178	single nucleotide variant	NM_013382.7(POMT2):c.1007-20G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791845]	likely benign	14	77296293	77296293	Human	1	name
405079255	CV3100562	single nucleotide variant	NM_013382.7(POMT2):c.2033-15T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003800115]	likely benign	14	77278523	77278523	Human	1	name
405180082	CV3101724	single nucleotide variant	NM_013382.7(POMT2):c.1117-17C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003803937]	likely benign	14	77291397	77291397	Human	1	name
405003983	CV3102191	single nucleotide variant	NM_013382.7(POMT2):c.1577-19C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003804237]	likely benign	14	77283892	77283892	Human	1	name
405003922	CV3102196	single nucleotide variant	NM_013382.7(POMT2):c.1891+12T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003804242]	likely benign	14	77279811	77279811	Human	1	name
405173148	CV3104731	single nucleotide variant	NM_013382.7(POMT2):c.1117-14C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003803229]	likely benign	14	77291394	77291394	Human	1	name
405152288	CV3105770	single nucleotide variant	NM_013382.7(POMT2):c.1654-15G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801487]	likely benign	14	77280478	77280478	Human	1	name
405009114	CV3105972	single nucleotide variant	NM_013382.7(POMT2):c.1332+19T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003794470]	likely benign	14	77286725	77286725	Human	1	name
405034202	CV3106040	single nucleotide variant	NM_013382.7(POMT2):c.1891+15G>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003796730]	likely benign	14	77279808	77279808	Human	1	name
405080500	CV3107325	single nucleotide variant	NM_013382.7(POMT2):c.1184-11C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003800195]	likely benign	14	77288842	77288842	Human	1	name
405085418	CV3107590	single nucleotide variant	NM_013382.7(POMT2):c.1184-19G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003800460]	likely benign	14	77288850	77288850	Human	1	name
405084151	CV3107627	single nucleotide variant	NM_013382.7(POMT2):c.2147+10T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003800497]	likely benign	14	77278384	77278384	Human	1	name
405156160	CV3109295	single nucleotide variant	NM_013382.7(POMT2):c.1007-17G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801818]	likely benign	14	77296290	77296290	Human	1	name
405159596	CV3109560	single nucleotide variant	NM_013382.7(POMT2):c.1116+17T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003802084]	likely benign	14	77296147	77296147	Human	1	name
405153558	CV3110231	single nucleotide variant	NM_013382.7(POMT2):c.1007-11C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003817751]	likely benign	14	77296284	77296284	Human	1	name
405111641	CV3110807	deletion	NM_013382.7(POMT2):c.1332+10del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003813710]	likely benign	14	77286734	77286734	Human	1	name
405075276	CV3111654	single nucleotide variant	NM_013382.7(POMT2):c.2148-14G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003809994]	likely benign	14	77277495	77277495	Human	1	name
405105761	CV3113295	single nucleotide variant	NM_013382.7(POMT2):c.2032+14A>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003812586]	likely benign	14	77278715	77278715	Human	1	name
405079821	CV3114766	single nucleotide variant	NM_013382.7(POMT2):c.1184-12T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003810329]	likely benign	14	77288843	77288843	Human	1	name
405080479	CV3114815	single nucleotide variant	NM_013382.7(POMT2):c.1785+17T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003810378]	likely benign	14	77280004	77280004	Human	1	name
12842851	CV373187	single nucleotide variant	NM_013382.7(POMT2):c.2033-20G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003766440]\|not specified [RCV000435156]	likely benign	14	77278528	77278528	Human	1	name
12842358	CV376223	single nucleotide variant	NM_013382.7(POMT2):c.1785+20C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002522660]\|not specified [RCV000434258]	likely benign	14	77280001	77280001	Human	1	name
12836458	CV376228	single nucleotide variant	NM_013382.7(POMT2):c.1726-15G>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002060042]\|not specified [RCV000423423]	likely benign	14	77280095	77280095	Human	1	name
12839844	CV376233	single nucleotide variant	NM_013382.7(POMT2):c.1332+19T>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001861559]\|not specified [RCV000429579]	likely benign\|uncertain significance	14	77286725	77286725	Human	1	name
597897213	CV3866138	single nucleotide variant	NM_013382.7(POMT2):c.1577-20C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005219755]	likely benign	14	77283893	77283893	Human	1	name
597893513	CV3868178	single nucleotide variant	NM_013382.7(POMT2):c.1654-13T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005219207]	likely benign	14	77280476	77280476	Human	1	name
597894045	CV3868458	single nucleotide variant	NM_013382.7(POMT2):c.1726-15G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005219310]	likely benign	14	77280095	77280095	Human	1	name
597878519	CV3871936	single nucleotide variant	NM_013382.7(POMT2):c.1333-12C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005216987]	likely benign	14	77285644	77285644	Human	1	name
597862714	CV3875264	single nucleotide variant	NM_013382.7(POMT2):c.1116+10C>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005214441]	likely benign	14	77296154	77296154	Human	1	name
597887131	CV3876493	duplication	NM_013382.7(POMT2):c.1332+10dup	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005218239]	likely benign	14	77286733	77286734	Human	1	name
597850816	CV3877011	single nucleotide variant	NM_013382.7(POMT2):c.1117-14C>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005228239]	likely benign	14	77291394	77291394	Human	1	name
597913380	CV3879983	single nucleotide variant	NM_013382.7(POMT2):c.1892-17G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005222222]	likely benign	14	77278886	77278886	Human	1	name
13540749	CV505132	single nucleotide variant	NM_013382.7(POMT2):c.1484+17T>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002528695]\|not specified [RCV000615145]	likely benign	14	77285464	77285464	Human	1	name
13525163	CV505537	single nucleotide variant	NM_013382.7(POMT2):c.2148-17C>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002064244]\|not specified [RCV000602784]	likely benign	14	77277498	77277498	Human	1	name
14725520	CV666664	single nucleotide variant	NM_013382.7(POMT2):c.1576+55C>T	not provided [RCV000833475]	benign	14	77284895	77284895	Human		name
14707341	CV666672	single nucleotide variant	NM_013382.7(POMT2):c.817-121C>T	not provided [RCV000826810]	benign	14	77299682	77299682	Human		name
14707339	CV667420	single nucleotide variant	NM_013382.7(POMT2):c.817-123T>C	not provided [RCV000826808]	benign	14	77299684	77299684	Human		name
14711026	CV667424	single nucleotide variant	NM_013382.7(POMT2):c.438+288G>C	not provided [RCV000827900]	likely benign	14	77306049	77306049	Human		name
14733268	CV667428	single nucleotide variant	NM_013382.7(POMT2):c.248+108C>A	not provided [RCV000837023]	benign	14	77320326	77320326	Human		name
14707363	CV667728	single nucleotide variant	NM_013382.7(POMT2):c.1891+54A>G	not provided [RCV000826816]	benign	14	77279769	77279769	Human		name
14743799	CV667730	single nucleotide variant	NM_013382.7(POMT2):c.1786-18A>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002064390]\|not provided [RCV000842310]	likely benign	14	77279946	77279946	Human	1	name
14717672	CV667746	single nucleotide variant	NM_013382.7(POMT2):c.1653+83A>C	not provided [RCV000830140]	benign	14	77283714	77283714	Human		name
14707345	CV667760	single nucleotide variant	NM_013382.7(POMT2):c.1484+95A>G	not provided [RCV000826811]	benign	14	77285386	77285386	Human		name
14708448	CV667769	duplication	NM_013382.7(POMT2):c.656+136dup	not provided [RCV000826809]	benign	14	77302692	77302693	Human		name
14707335	CV667771	single nucleotide variant	NM_013382.7(POMT2):c.547+201T>C	not provided [RCV000826807]	benign	14	77304491	77304491	Human		name
14722866	CV667779	single nucleotide variant	NM_013382.7(POMT2):c.249-109A>G	not provided [RCV000832283]	benign	14	77312142	77312142	Human		name
28885277	CV876454	single nucleotide variant	NM_013382.7(POMT2):c.1725+13G>C	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118998]	uncertain significance	14	77280379	77280379	Human	1	name
28885287	CV876455	single nucleotide variant	NM_013382.7(POMT2):c.1576+10G>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001119001]	uncertain significance	14	77284940	77284940	Human	1	name
150421304	CV1181197	single nucleotide variant	NM_013382.7(POMT2):c.1653+129C>T	not provided [RCV001551954]	likely benign	14	77283668	77283668	Human	2	name
150421304	CV1181197	single nucleotide variant	NM_013382.7(POMT2):c.1653+129C>T	not provided [RCV001551954]	likely benign	14	77283668	77283669	Human	2	name
150458379	CV1202751	single nucleotide variant	NM_013382.7(POMT2):c.1184-292C>G	not provided [RCV001586404]	likely benign	14	77289123	77289123	Human		name
150479694	CV1207878	single nucleotide variant	NM_013382.7(POMT2):c.1116+267G>A	not provided [RCV001590154]	likely benign	14	77295897	77295897	Human		name
150469983	CV1209240	single nucleotide variant	NM_013382.7(POMT2):c.1725+117G>C	not provided [RCV001588351]	likely benign	14	77280275	77280275	Human		name
150497911	CV1224048	single nucleotide variant	NM_013382.7(POMT2):c.2147+147G>A	not provided [RCV001620160]	benign	14	77278247	77278247	Human		name
150511985	CV1242849	single nucleotide variant	NM_013382.7(POMT2):c.1184-152C>T	not provided [RCV001661203]	benign	14	77288983	77288983	Human		name
150443769	CV1287927	single nucleotide variant	NM_013382.7(POMT2):c.1006+148C>T	not provided [RCV001725649]	benign	14	77298541	77298541	Human		name
405265165	CV3185509	single nucleotide variant	NM_013382.7(POMT2):c.1891+220C>T	not provided [RCV003886073]	likely benign	14	77279603	77279603	Human		name
597914776	CV3880180	microsatellite	NM_013382.7(POMT2):c.2033-6CT[3]	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005222420]	likely benign	14	77278510	77278511	Human		name
14707349	CV666654	single nucleotide variant	NM_013382.7(POMT2):c.1654-217A>G	not provided [RCV000826812]	benign	14	77280680	77280680	Human		name
14719357	CV666659	single nucleotide variant	NM_013382.7(POMT2):c.1653+266C>T	not provided [RCV000830738]	benign	14	77283531	77283531	Human		name
14722869	CV666670	single nucleotide variant	NM_013382.7(POMT2):c.1006+212A>G	not provided [RCV000832284]	benign	14	77298477	77298477	Human		name
14711043	CV667408	single nucleotide variant	NM_013382.7(POMT2):c.1184-288T>C	not provided [RCV000827906]	likely benign	14	77289119	77289119	Human		name
14711041	CV667415	single nucleotide variant	NM_013382.7(POMT2):c.1007-346G>A	not provided [RCV000827904]	benign	14	77296619	77296619	Human		name
14726635	CV667536	single nucleotide variant	NM_013382.7(POMT2):c.1116+243T>G	not provided [RCV000833955]	benign	14	77295921	77295921	Human		name
14726075	CV667540	single nucleotide variant	NM_013382.7(POMT2):c.1116+165C>T	not provided [RCV000833713]	benign	14	77295999	77295999	Human		name
14746159	CV667544	single nucleotide variant	NM_013382.7(POMT2):c.1007-256G>A	not provided [RCV000844144]	benign	14	77296529	77296529	Human		name
14707356	CV667724	single nucleotide variant	NM_013382.7(POMT2):c.1892-164C>T	not provided [RCV000826814]	benign	14	77279033	77279033	Human		name
14722871	CV667749	single nucleotide variant	NM_013382.7(POMT2):c.1484+136T>C	not provided [RCV000832285]	benign	14	77285345	77285345	Human		name
14719288	CV667763	single nucleotide variant	NM_013382.7(POMT2):c.1007-282T>C	not provided [RCV000830708]	benign	14	77296555	77296555	Human		name
14746155	CV667766	single nucleotide variant	NM_013382.7(POMT2):c.1006+261C>T	not provided [RCV000844139]	benign	14	77298428	77298428	Human		name
402494410	CV226478	deletion	NM_013382.5(POMT2):c.1170_1171del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765463]	pathogenic	14	77291326	77291327	Human	1	name
127243088	CV1056185	deletion	NM_013382.7(POMT2):c.1329_1332+5del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001377042]	likely pathogenic	14	77286739	77286747	Human	1	name
405092685	CV3105421	single nucleotide variant	NM_013382.7(POMT2):c.6G>C (p.Pro2=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801137]	likely benign	14	77320676	77320676	Human	1	name
15108178	CV784797	single nucleotide variant	NM_013382.7(POMT2):c.9G>A (p.Pro3=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001393207]	likely benign	14	77320673	77320673	Human	1	name
127230637	CV1080772	single nucleotide variant	NM_013382.7(POMT2):c.25C>T (p.Leu9=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001412579]	likely benign	14	77320657	77320657	Human	1	name
152063118	CV1542238	microsatellite	NM_013382.7(POMT2):c.923+8_923+11del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002208941]	likely benign	14	77299444	77299447	Human		name
402502973	CV3090032	single nucleotide variant	NM_013382.7(POMT2):c.12C>T (p.Ala4=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788798]	likely benign	14	77320670	77320670	Human	1	name
127277196	CV1080771	single nucleotide variant	NM_013382.7(POMT2):c.33G>A (p.Glu11=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001407621]	likely benign	14	77320649	77320649	Human	1	name
127255908	CV1102597	single nucleotide variant	NM_013382.7(POMT2):c.51G>A (p.Arg17=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001437543]	likely benign	14	77320631	77320631	Human	1	name
151714415	CV1501607	single nucleotide variant	NM_013382.7(POMT2):c.7C>G (p.Pro3Ala)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002015842]	uncertain significance	14	77320675	77320675	Human	1	name
152070358	CV1622829	single nucleotide variant	NM_013382.7(POMT2):c.36C>T (p.Ser12=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002209897]	likely benign	14	77320646	77320646	Human	1	name
152093887	CV1634297	single nucleotide variant	NM_013382.7(POMT2):c.30A>G (p.Ala10=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002213097]	likely benign	14	77320652	77320652	Human	1	name
10049504	CV190531	single nucleotide variant	NM_013382.7(POMT2):c.87A>T (p.Ala29=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001484220]\|not provided [RCV000173433]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77320595	77320595	Human	1	name
156378280	CV2024950	single nucleotide variant	NM_013382.7(POMT2):c.90C>G (p.Gly30=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002722106]	likely benign	14	77320592	77320592	Human	1	name
156227188	CV2115418	single nucleotide variant	NM_013382.7(POMT2):c.87A>G (p.Ala29=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002932683]	likely benign	14	77320595	77320595	Human	1	name
156322743	CV2134265	deletion	NM_013382.7(POMT2):c.657-18_657-15del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002963322]	likely benign	14	77301264	77301267	Human	1	name
11639029	CV269387	single nucleotide variant	NM_013382.7(POMT2):c.66C>T (p.Gly22=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001084620]\|POMT2-related disorder [RCV003947889]\|not provided [RCV000314138]\|not specified [RCV004999226]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77320616	77320616	Human	3	name , alternate_id
11637543	CV274442	single nucleotide variant	NM_013382.7(POMT2):c.84C>T (p.Ala28=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001080397]\|not provided [RCV000287692]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77320598	77320598	Human	1	name
402498294	CV3092861	single nucleotide variant	NM_013382.7(POMT2):c.60C>A (p.Arg20=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788325]	likely benign	14	77320622	77320622	Human	1	name
405062243	CV3102926	single nucleotide variant	NM_013382.7(POMT2):c.54G>A (p.Arg18=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003798917]	likely benign	14	77320628	77320628	Human	1	name
597836453	CV3875563	single nucleotide variant	NM_013382.7(POMT2):c.99G>A (p.Val33=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005225608]	likely benign	14	77320583	77320583	Human	1	name
13811859	CV572933	deletion	NM_013382.7(POMT2):c.1485-2_1485-1del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000703321]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004569376]	likely pathogenic	14	77285042	77285043	Human	1	name
13832711	CV583398	microsatellite	NM_013382.7(POMT2):c.1332+6_1332+9del	Inborn genetic diseases [RCV002533078]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001086406]\|not provided [RCV000727621]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77286735	77286738	Human		name
14707884	CV652981	deletion	NM_013382.7(POMT2):c.1006+4_1006+7del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000808004]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472397]	likely pathogenic\|uncertain significance	14	77298682	77298685	Human	1	name
15121475	CV693606	single nucleotide variant	NM_013382.7(POMT2):c.36C>A (p.Ser12=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000874248]\|not provided [RCV003392656]	likely benign	14	77320646	77320646	Human	1	name
15109442	CV769927	single nucleotide variant	NM_013382.7(POMT2):c.69C>T (p.Pro23=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001396712]	likely benign	14	77320613	77320613	Human	1	name
28885586	CV872747	single nucleotide variant	NM_013382.7(POMT2):c.90C>T (p.Gly30=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001119096]	uncertain significance	14	77320592	77320592	Human	1	name
38478933	CV941068	duplication	NM_013382.7(POMT2):c.1484+1_1484+3dup	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001216845]	uncertain significance	14	77285477	77285478	Human	1	name
8642452	CV101435	single nucleotide variant	NM_013382.7(POMT2):c.162G>T (p.Ala54=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000365540]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001514148]\|not provided [RCV001647059]\|not specified [RCV000081566]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	14	77320520	77320520	Human	2	name
127270564	CV1080770	single nucleotide variant	NM_013382.7(POMT2):c.135T>A (p.Pro45=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001405044]	likely benign	14	77320547	77320547	Human	1	name
127237188	CV1102596	single nucleotide variant	NM_013382.7(POMT2):c.130C>A (p.Arg44=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001433492]	likely benign	14	77320552	77320552	Human	1	name
127305062	CV1144875	single nucleotide variant	NM_013382.7(POMT2):c.258G>A (p.Glu86=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001499824]	likely benign	14	77312024	77312024	Human	1	name
127287175	CV1144876	single nucleotide variant	NM_013382.7(POMT2):c.162G>C (p.Ala54=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001494786]	likely benign	14	77320520	77320520	Human	1	name
8657422	CV135460	single nucleotide variant	NM_013382.7(POMT2):c.1911= (p.Leu637=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001079366]\|not provided [RCV000710193]\|not specified [RCV000118038]	benign	14	77278850	77278850	Human	1	name
151713281	CV1398539	single nucleotide variant	NM_013382.7(POMT2):c.16G>A (p.Gly6Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002010761]	uncertain significance	14	77320666	77320666	Human	1	name
8692520	CV142489	single nucleotide variant	NM_013382.7(POMT2):c.1383= (p.Arg461=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001084394]\|not provided [RCV000710192]\|not specified [RCV000127577]	benign	14	77285582	77285582	Human	1	name
151785680	CV1483304	single nucleotide variant	NM_013382.7(POMT2):c.168C>T (p.Gly56=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001892115]	likely benign\|uncertain significance	14	77320514	77320514	Human	1	name
151722276	CV1492492	single nucleotide variant	NM_013382.7(POMT2):c.25C>G (p.Leu9Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002042217]	uncertain significance	14	77320657	77320657	Human	1	name
152101040	CV1540120	single nucleotide variant	NM_013382.7(POMT2):c.216C>T (p.Arg72=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002095530]	likely benign	14	77320466	77320466	Human	1	name
152086418	CV1578095	single nucleotide variant	NM_013382.7(POMT2):c.181C>T (p.Leu61=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002171227]	likely benign	14	77320501	77320501	Human	1	name
152076687	CV1604570	single nucleotide variant	NM_013382.7(POMT2):c.240G>A (p.Pro80=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002092317]	likely benign	14	77320442	77320442	Human	1	name
152075729	CV1629532	single nucleotide variant	NM_013382.7(POMT2):c.288T>C (p.Tyr96=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002130189]	likely benign	14	77311994	77311994	Human	1	name
152066560	CV1659940	single nucleotide variant	NM_013382.7(POMT2):c.177C>T (p.Ala59=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002147503]	likely benign	14	77320505	77320505	Human	1	name
156440222	CV1946584	single nucleotide variant	NM_013382.7(POMT2):c.153C>T (p.Arg51=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003110253]	likely benign	14	77320529	77320529	Human	1	name
156365240	CV2020832	single nucleotide variant	NM_013382.7(POMT2):c.234G>A (p.Glu78=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002721140]	likely benign	14	77320448	77320448	Human	1	name
155996800	CV2091951	microsatellite	NM_013382.7(POMT2):c.1117-16CCCACCC[3]	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002908427]	likely benign	14	77291382	77291383	Human		name
156076867	CV2160446	single nucleotide variant	NM_013382.7(POMT2):c.261T>C (p.Thr87=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003020219]	likely benign	14	77312021	77312021	Human	1	name
156077598	CV2173588	duplication	NM_013382.7(POMT2):c.70dup (p.Gln24fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003053916]	pathogenic	14	77320611	77320612	Human	1	name
11639360	CV273892	single nucleotide variant	NM_013382.7(POMT2):c.102C>G (p.Ala34=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765671]\|not provided [RCV000318103]	likely benign\|uncertain significance	14	77320580	77320580	Human	1	name
404986021	CV3083577	single nucleotide variant	NM_013382.7(POMT2):c.180G>C (p.Leu60=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781927]	likely benign	14	77320502	77320502	Human	1	name
404999256	CV3085893	single nucleotide variant	NM_013382.7(POMT2):c.213C>T (p.Thr71=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783263]	likely benign	14	77320469	77320469	Human	1	name
402496132	CV3092488	single nucleotide variant	NM_013382.7(POMT2):c.198G>C (p.Leu66=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788108]	likely benign	14	77320484	77320484	Human	1	name
405078604	CV3100484	single nucleotide variant	NM_013382.7(POMT2):c.138T>C (p.Ala46=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003800037]	likely benign	14	77320544	77320544	Human	1	name
405151093	CV3105717	single nucleotide variant	NM_013382.7(POMT2):c.270A>C (p.Gly90=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801434]	likely benign	14	77312012	77312012	Human	1	name
405054582	CV3107790	single nucleotide variant	NM_013382.7(POMT2):c.219C>T (p.Phe73=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003808535]	likely benign	14	77320463	77320463	Human	1	name
405104753	CV3113039	single nucleotide variant	NM_013382.7(POMT2):c.297T>C (p.Arg99=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003812329]	likely benign	14	77311985	77311985	Human	1	name
14722464	CV642755	single nucleotide variant	NM_013382.7(POMT2):c.14C>G (p.Thr5Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000813904]\|not provided [RCV001772105]	uncertain significance	14	77320668	77320668	Human	1	name
15107605	CV693605	single nucleotide variant	NM_013382.7(POMT2):c.237G>A (p.Pro79=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001510339]	benign	14	77320445	77320445	Human	1	name
15172757	CV769926	single nucleotide variant	NM_013382.7(POMT2):c.196C>T (p.Leu66=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001410939]	likely benign	14	77320486	77320486	Human	1	name
15127125	CV784796	single nucleotide variant	NM_013382.7(POMT2):c.231C>T (p.Asp77=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001425301]	likely benign	14	77320451	77320451	Human	1	name
38456630	CV948706	single nucleotide variant	NM_013382.7(POMT2):c.20G>A (p.Gly7Glu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001228423]\|not provided [RCV003132307]	uncertain significance	14	77320662	77320662	Human	1	name
38489516	CV948707	single nucleotide variant	NM_013382.7(POMT2):c.13A>T (p.Thr5Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001238447]	uncertain significance	14	77320669	77320669	Human	1	name
126772427	CV1031760	single nucleotide variant	NM_013382.7(POMT2):c.58C>T (p.Arg20Cys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001345611]	uncertain significance	14	77320624	77320624	Human	1	name
126739345	CV1031761	single nucleotide variant	NM_013382.7(POMT2):c.35C>T (p.Ser12Phe)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001350592]	uncertain significance	14	77320647	77320647	Human	1	name
127256631	CV1080769	single nucleotide variant	NM_013382.7(POMT2):c.543C>T (p.Thr181=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001401286]	likely benign	14	77304696	77304696	Human	1	name
127279999	CV1102592	single nucleotide variant	NM_013382.7(POMT2):c.690C>T (p.Ser230=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001446150]	likely benign	14	77301216	77301216	Human	1	name
127272266	CV1102593	single nucleotide variant	NM_013382.7(POMT2):c.672C>T (p.Pro224=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001442129]	likely benign	14	77301234	77301234	Human	1	name
127297844	CV1124012	single nucleotide variant	NM_013382.7(POMT2):c.318C>T (p.His106=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001460361]	likely benign	14	77311964	77311964	Human	1	name
127301059	CV1144874	single nucleotide variant	NM_013382.7(POMT2):c.699C>T (p.Gly233=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001478580]	likely benign	14	77301207	77301207	Human	1	name
150478509	CV1257159	duplication	NM_013382.7(POMT2):c.816+257_816+258dup	not provided [RCV001672389]	benign	14	77300819	77300820	Human		name
151819111	CV1348032	single nucleotide variant	NM_013382.7(POMT2):c.37G>A (p.Glu13Lys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001959567]	uncertain significance	14	77320645	77320645	Human	1	name
151828611	CV1461931	single nucleotide variant	NM_013382.7(POMT2):c.68C>G (p.Pro23Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001978907]\|See cases [RCV002252737]	uncertain significance	14	77320614	77320614	Human	1	name
151807093	CV1463996	single nucleotide variant	NM_013382.7(POMT2):c.41T>C (p.Leu14Pro)	Inborn genetic diseases [RCV002561382]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001933905]	uncertain significance	14	77320641	77320641	Human	2	name
151720937	CV1478089	single nucleotide variant	NM_013382.7(POMT2):c.46C>T (p.Pro16Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002038098]\|not provided [RCV003134321]	uncertain significance	14	77320636	77320636	Human	1	name
152127804	CV1534114	single nucleotide variant	NM_013382.7(POMT2):c.660C>T (p.Pro220=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002136547]	likely benign	14	77301246	77301246	Human	1	name
152114230	CV1534485	single nucleotide variant	NM_013382.7(POMT2):c.981C>T (p.Asn327=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002097253]	likely benign	14	77298714	77298714	Human	1	name
152120389	CV1547254	single nucleotide variant	NM_013382.7(POMT2):c.480C>T (p.Tyr160=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002154179]	likely benign	14	77304759	77304759	Human	1	name
152098623	CV1578459	single nucleotide variant	NM_013382.7(POMT2):c.879C>G (p.Leu293=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002151522]	likely benign	14	77299499	77299499	Human	1	name
152027769	CV1607346	single nucleotide variant	NM_013382.7(POMT2):c.774T>C (p.Ile258=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002105003]	likely benign	14	77301132	77301132	Human	1	name
152032795	CV1614885	single nucleotide variant	NM_013382.7(POMT2):c.780C>T (p.Asp260=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002086651]	likely benign	14	77301126	77301126	Human	1	name
152079009	CV1632302	deletion	NM_013382.7(POMT2):c.1254-13_1254-12del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002130599]	likely benign	14	77286834	77286835	Human	1	name
152079849	CV1663507	single nucleotide variant	NM_013382.7(POMT2):c.762G>T (p.Gly254=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002149164]	likely benign	14	77301144	77301144	Human	1	name
156378967	CV1876782	single nucleotide variant	NM_013382.7(POMT2):c.513G>A (p.Ser171=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003066997]	likely benign	14	77304726	77304726	Human	1	name
156274663	CV1880524	single nucleotide variant	NM_013382.7(POMT2):c.85G>T (p.Ala29Ser)	Inborn genetic diseases [RCV004070431]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003060846]	uncertain significance	14	77320597	77320597	Human	2	name
156192923	CV1893123	single nucleotide variant	NM_013382.7(POMT2):c.843T>G (p.Ala281=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003083934]	likely benign	14	77299535	77299535	Human	1	name
156214425	CV1914245	single nucleotide variant	NM_013382.7(POMT2):c.927C>T (p.Gly309=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002596200]	likely benign	14	77298768	77298768	Human	1	name
156381092	CV1927565	single nucleotide variant	NM_013382.7(POMT2):c.85G>A (p.Ala29Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002634275]\|not provided [RCV003232837]	uncertain significance	14	77320597	77320597	Human	1	name
156300987	CV1929656	single nucleotide variant	NM_013382.7(POMT2):c.552G>A (p.Thr184=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002647639]	likely benign\|uncertain significance	14	77302939	77302939	Human	1	name
10053053	CV195714	single nucleotide variant	NM_013382.7(POMT2):c.891C>A (p.Thr297=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117495]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002516806]\|not provided [RCV000179935]	likely benign\|uncertain significance	14	77299487	77299487	Human	2	name
156271605	CV2026984	single nucleotide variant	NM_013382.7(POMT2):c.477C>G (p.Ala159=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002746660]	likely benign	14	77304762	77304762	Human	1	name
156114588	CV2117475	single nucleotide variant	NM_013382.7(POMT2):c.654C>T (p.Asp218=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002953259]\|not provided [RCV004999839]	likely benign\|uncertain significance	14	77302837	77302837	Human	1	name
156375060	CV2124019	single nucleotide variant	NM_013382.7(POMT2):c.814T>C (p.Leu272=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002942638]	likely benign	14	77301092	77301092	Human	1	name
156294370	CV2166480	single nucleotide variant	NM_013382.7(POMT2):c.595C>T (p.Leu199=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003045271]	likely benign	14	77302896	77302896	Human	1	name
156174636	CV2188395	single nucleotide variant	NM_013382.7(POMT2):c.74C>T (p.Ala25Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003041140]	uncertain significance	14	77320608	77320608	Human	1	name
243059619	CV2413517	single nucleotide variant	NM_013382.7(POMT2):c.86C>G (p.Ala29Gly)	not provided [RCV003135115]	uncertain significance	14	77320596	77320596	Human		name
11582170	CV266641	single nucleotide variant	NM_013382.7(POMT2):c.651C>T (p.Ala217=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000400290]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001079001]\|not provided [RCV000725083]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77302840	77302840	Human	2	name
401761207	CV2689064	single nucleotide variant	NM_013382.7(POMT2):c.49C>T (p.Arg17Trp)	Inborn genetic diseases [RCV003280790]	uncertain significance	14	77320633	77320633	Human	1	name
11642144	CV270412	single nucleotide variant	NM_013382.7(POMT2):c.321G>A (p.Pro107=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002059195]\|not provided [RCV000368923]	likely benign\|uncertain significance	14	77311961	77311961	Human	1	name
11640524	CV272889	single nucleotide variant	NM_013382.7(POMT2):c.795C>T (p.Phe265=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002518049]\|not provided [RCV000340387]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77301111	77301111	Human	1	name
11637972	CV272998	single nucleotide variant	NM_013382.7(POMT2):c.825G>A (p.Val275=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000797190]\|not provided [RCV000294161]	likely benign\|uncertain significance	14	77299553	77299553	Human	1	name
401948724	CV2835173	deletion	NM_013382.7(POMT2):c.188del (p.Leu63fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472505]	likely pathogenic	14	77320494	77320494	Human	1	name
401948726	CV2835175	duplication	NM_013382.7(POMT2):c.163dup (p.Val55fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472507]	likely pathogenic	14	77320518	77320519	Human	1	name
401948733	CV2835182	deletion	NM_013382.7(POMT2):c.253del (p.Asp85fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472514]	likely pathogenic	14	77312029	77312029	Human	1	name
405026864	CV3082361	single nucleotide variant	NM_013382.7(POMT2):c.564T>C (p.Thr188=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785812]	likely benign	14	77302927	77302927	Human	1	name
405029039	CV3082552	single nucleotide variant	NM_013382.7(POMT2):c.471C>T (p.Pro157=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003786003]	likely benign	14	77304768	77304768	Human	1	name
405032730	CV3083002	deletion	NM_013382.7(POMT2):c.2032+20_2032+25del	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003786296]	likely benign	14	77278704	77278709	Human	1	name
405011001	CV3083394	single nucleotide variant	NM_013382.7(POMT2):c.645T>C (p.Ser215=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003784341]	likely benign	14	77302846	77302846	Human	1	name
404988090	CV3083983	single nucleotide variant	NM_013382.7(POMT2):c.324C>T (p.Pro108=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003782175]	likely benign	14	77311958	77311958	Human	1	name
405023696	CV3084988	single nucleotide variant	NM_013382.7(POMT2):c.990T>C (p.Asn330=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003795854]	likely benign	14	77298705	77298705	Human	1	name
402509391	CV3086953	single nucleotide variant	NM_013382.7(POMT2):c.594C>T (p.Ile198=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789463]	likely benign	14	77302897	77302897	Human	1	name
402514701	CV3087583	single nucleotide variant	NM_013382.7(POMT2):c.790C>T (p.Leu264=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789934]	likely benign	14	77301116	77301116	Human	1	name
402516954	CV3087764	single nucleotide variant	NM_013382.7(POMT2):c.624G>A (p.Leu208=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003790117]	likely benign	14	77302867	77302867	Human	1	name
402510956	CV3089265	single nucleotide variant	NM_013382.7(POMT2):c.393G>A (p.Lys131=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780297]	likely benign	14	77306382	77306382	Human	1	name
402494587	CV3092296	single nucleotide variant	NM_013382.7(POMT2):c.741C>G (p.Leu247=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787915]	likely benign	14	77301165	77301165	Human	1	name
402495637	CV3092389	single nucleotide variant	NM_013382.7(POMT2):c.447A>G (p.Ala149=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788009]	likely benign	14	77304792	77304792	Human	1	name
405001387	CV3095485	single nucleotide variant	NM_013382.7(POMT2):c.870C>T (p.Pro290=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003793788]	likely benign	14	77299508	77299508	Human	1	name
405001978	CV3095545	single nucleotide variant	NM_013382.7(POMT2):c.382T>C (p.Leu128=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003793848]	likely benign	14	77306393	77306393	Human	1	name
405029366	CV3095816	single nucleotide variant	NM_013382.7(POMT2):c.591C>T (p.Pro197=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003796313]	likely benign	14	77302900	77302900	Human	1	name
405023600	CV3097612	single nucleotide variant	NM_013382.7(POMT2):c.411G>A (p.Glu137=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003806073]	likely benign	14	77306364	77306364	Human	1	name
405071865	CV3099784	single nucleotide variant	NM_013382.7(POMT2):c.399G>A (p.Gly133=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003799499]	likely benign	14	77306376	77306376	Human	1	name
405004454	CV3102258	single nucleotide variant	NM_013382.7(POMT2):c.450C>T (p.Phe150=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003804304]	likely benign	14	77304789	77304789	Human	1	name
405069468	CV3103599	single nucleotide variant	NM_013382.7(POMT2):c.849C>T (p.Val283=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003799429]	likely benign	14	77299529	77299529	Human	1	name
405044382	CV3103842	single nucleotide variant	NM_013382.7(POMT2):c.855C>T (p.Cys285=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003797560]	likely benign	14	77299523	77299523	Human	1	name
405174195	CV3104858	single nucleotide variant	NM_013382.7(POMT2):c.627C>T (p.Ser209=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003803356]	likely benign	14	77302864	77302864	Human	1	name
405155892	CV3109272	single nucleotide variant	NM_013382.7(POMT2):c.717T>G (p.Ala239=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801795]	likely benign	14	77301189	77301189	Human	1	name
405154433	CV3110296	single nucleotide variant	NM_013382.7(POMT2):c.639C>T (p.Tyr213=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003817817]	likely benign	14	77302852	77302852	Human	1	name
405156849	CV3110517	single nucleotide variant	NM_013382.7(POMT2):c.903C>T (p.His301=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003818038]	likely benign	14	77299475	77299475	Human	1	name
405068635	CV3111068	single nucleotide variant	NM_013382.7(POMT2):c.768C>T (p.Asn256=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003809572]	likely benign	14	77301138	77301138	Human	1	name
405104791	CV3113056	single nucleotide variant	NM_013382.7(POMT2):c.894T>C (p.Phe298=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003812346]	likely benign	14	77299484	77299484	Human	1	name
405079017	CV3114595	single nucleotide variant	NM_013382.7(POMT2):c.369T>C (p.Tyr123=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003810157]	likely benign	14	77306406	77306406	Human	1	name
405270206	CV3187648	single nucleotide variant	NM_013382.7(POMT2):c.762G>A (p.Gly254=)	not provided [RCV003887732]	likely benign	14	77301144	77301144	Human		name
11617486	CV330792	single nucleotide variant	NM_013382.7(POMT2):c.648C>T (p.Cys216=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000304799]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000878493]\|POMT2-related disorder [RCV003897724]\|not provided [RCV001723900]\|not specified [RCV ... (more) 000436791]	benign\|likely benign\|uncertain significance	14	77302843	77302843	Human	3	name , alternate_id
405871261	CV3399183	indel	NM_013382.7(POMT2):c.2144_2147+9delinsT	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004574614]	likely pathogenic	14	77278385	77278397	Human		name
407457586	CV3416196	single nucleotide variant	NM_013382.7(POMT2):c.579C>T (p.Ile193=)	not provided [RCV004599074]	likely benign	14	77302912	77302912	Human		name
408384045	CV3506249	single nucleotide variant	NM_013382.7(POMT2):c.567G>C (p.Leu189=)	POMT2-related disorder [RCV004731461]	likely benign	14	77302924	77302924	Human		name , trait , alternate_id
597856702	CV3870805	single nucleotide variant	NM_013382.7(POMT2):c.852G>A (p.Leu284=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005229008]	likely benign	14	77299526	77299526	Human	1	name
597914975	CV3880210	single nucleotide variant	NM_013382.7(POMT2):c.525C>A (p.Leu175=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005222450]	likely benign	14	77304714	77304714	Human	1	name
598129842	CV3887264	single nucleotide variant	NM_013382.7(POMT2):c.645T>G (p.Ser215=)	not provided [RCV005245324]	likely benign	14	77302846	77302846	Human		name
12913739	CV421995	single nucleotide variant	NM_013382.7(POMT2):c.50G>C (p.Arg17Pro)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001119097]\|Inborn genetic diseases [RCV004023305]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000815704]\|not provided [RCV000730161]	uncertain significance	14	77320632	77320632	Human	3	name
13499647	CV464150	single nucleotide variant	NM_013382.7(POMT2):c.29C>T (p.Ala10Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000539948]\|not provided [RCV002508226]	uncertain significance	14	77320653	77320653	Human	1	name
13498223	CV464533	single nucleotide variant	NM_013382.7(POMT2):c.47C>G (p.Pro16Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000539098]\|not provided [RCV000593533]	uncertain significance	14	77320635	77320635	Human	1	name
13537568	CV505548	single nucleotide variant	NM_013382.7(POMT2):c.846T>A (p.Arg282=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000918105]\|not specified [RCV000610588]	likely benign	14	77299532	77299532	Human	1	name
13621282	CV528315	single nucleotide variant	NM_013382.7(POMT2):c.567G>A (p.Leu189=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648189]	likely benign	14	77302924	77302924	Human	1	name
13621283	CV528779	single nucleotide variant	NM_013382.7(POMT2):c.636G>A (p.Lys212=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001413055]	likely benign	14	77302855	77302855	Human	1	name
14735877	CV642754	single nucleotide variant	NM_013382.7(POMT2):c.50G>A (p.Arg17Gln)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000803369]\|not provided [RCV003133635]	uncertain significance	14	77320632	77320632	Human	1	name
15127172	CV693603	single nucleotide variant	NM_013382.7(POMT2):c.936C>T (p.Asp312=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000875257]	likely benign	14	77298759	77298759	Human	1	name
15145427	CV693604	single nucleotide variant	NM_013382.7(POMT2):c.339G>A (p.Leu113=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000878379]	likely benign	14	77306436	77306436	Human	1	name
15188438	CV725838	single nucleotide variant	NM_013382.7(POMT2):c.486T>C (p.Thr162=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002540066]	likely benign	14	77304753	77304753	Human	1	name
26910760	CV841853	single nucleotide variant	NM_013382.7(POMT2):c.756A>G (p.Gln252=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001038672]	uncertain significance	14	77301150	77301150	Human	1	name
26899321	CV841856	single nucleotide variant	NM_013382.7(POMT2):c.61T>C (p.Cys21Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001049199]\|not provided [RCV003132175]	uncertain significance	14	77320621	77320621	Human	1	name
8642457	CV101440	single nucleotide variant	NM_013382.7(POMT2):c.232G>C (p.Glu78Gln)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000303743]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV000765180]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001084326]\|POMT2 ... (more) weight:700;'>POMT2-related disorder [RCV003952518]\|not provided [RCV000712838]\|not specified [RCV001705757]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77320450	77320450	Human	5	name , alternate_id
8642458	CV101441	single nucleotide variant	NM_013382.7(POMT2):c.293A>G (p.Asn98Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000525225]\|not provided [RCV000081573]	uncertain significance	14	77311989	77311989	Human	1	name
126766223	CV1031759	single nucleotide variant	NM_013382.7(POMT2):c.209C>T (p.Ala70Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001342338]	uncertain significance	14	77320473	77320473	Human	1	name
126920463	CV1048701	single nucleotide variant	NM_013382.7(POMT2):c.242A>C (p.His81Pro)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001362891]	uncertain significance	14	77320440	77320440	Human	1	name
127236769	CV1080762	single nucleotide variant	NM_013382.7(POMT2):c.2100C>A (p.Gly700=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001392145]	likely benign	14	77278441	77278441	Human	1	name
127274732	CV1080763	single nucleotide variant	NM_013382.7(POMT2):c.2040G>A (p.Leu680=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001406418]	likely benign	14	77278501	77278501	Human	1	name
127245928	CV1080764	single nucleotide variant	NM_013382.7(POMT2):c.1992C>T (p.His664=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001398835]	likely benign	14	77278769	77278769	Human	1	name
127250720	CV1080765	single nucleotide variant	NM_013382.7(POMT2):c.1854C>G (p.Ala618=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001417639]	likely benign	14	77279860	77279860	Human	1	name
127257420	CV1080766	single nucleotide variant	NM_013382.7(POMT2):c.1800G>T (p.Leu600=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001419287]	likely benign	14	77279914	77279914	Human	1	name
127280793	CV1080767	single nucleotide variant	NM_013382.7(POMT2):c.1749T>C (p.Asn583=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001410052]	likely benign	14	77280057	77280057	Human	1	name
127235168	CV1080768	single nucleotide variant	NM_013382.7(POMT2):c.1410G>A (p.Leu470=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001414374]	likely benign	14	77285555	77285555	Human	1	name
127314595	CV1124009	single nucleotide variant	NM_013382.7(POMT2):c.1873C>T (p.Leu625=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001457748]	likely benign	14	77279841	77279841	Human	1	name
127286519	CV1144872	single nucleotide variant	NM_013382.7(POMT2):c.2046C>T (p.Asp682=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001494328]	likely benign	14	77278495	77278495	Human	1	name
127293286	CV1144873	single nucleotide variant	NM_013382.7(POMT2):c.1032T>C (p.Thr344=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001496732]	likely benign	14	77296248	77296248	Human	1	name
150546034	CV1291649	single nucleotide variant	NM_013382.7(POMT2):c.244A>T (p.Ile82Phe)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002539828]\|not specified [RCV001732827]	uncertain significance	14	77320438	77320438	Human	1	name
150551030	CV1292421	single nucleotide variant	NM_013382.7(POMT2):c.222C>G (p.His74Gln)	not provided [RCV001754028]	uncertain significance	14	77320460	77320460	Human		name
151717357	CV1336999	single nucleotide variant	NM_013382.7(POMT2):c.133C>G (p.Pro45Ala)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002025954]	uncertain significance	14	77320549	77320549	Human	1	name
151799431	CV1350792	single nucleotide variant	NM_013382.7(POMT2):c.2022C>T (p.Ser674=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001919857]	uncertain significance	14	77278739	77278739	Human	1	name
8660424	CV135462	single nucleotide variant	NM_013382.7(POMT2):c.161C>A (p.Ala54Glu)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000273298]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000531335]\|not provided [RCV000712833]\|not specified [RCV000118040]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	14	77320521	77320521	Human	2	name
151821381	CV1395130	single nucleotide variant	NM_013382.7(POMT2):c.125C>T (p.Pro42Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001964408]	uncertain significance	14	77320557	77320557	Human	1	name
151795679	CV1402782	single nucleotide variant	NM_013382.7(POMT2):c.118C>G (p.Arg40Gly)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002478279]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001912476]	uncertain significance	14	77320564	77320564	Human	2	name
151827238	CV1404313	single nucleotide variant	NM_013382.7(POMT2):c.278G>A (p.Gly93Glu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001976216]	uncertain significance	14	77312004	77312004	Human	1	name
151783307	CV1418308	single nucleotide variant	NM_013382.7(POMT2):c.148C>T (p.Arg50Trp)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001887448]	uncertain significance	14	77320534	77320534	Human	1	name
8692522	CV142491	single nucleotide variant	NM_013382.7(POMT2):c.2175C>T (p.Tyr725=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001117392]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000557869]\|not specified [RCV000127580]	benign	14	77277454	77277454	Human	2	name
151800845	CV1448182	single nucleotide variant	NM_013382.7(POMT2):c.220C>T (p.His74Tyr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001922907]	uncertain significance	14	77320462	77320462	Human	1	name
151721745	CV1495465	single nucleotide variant	NM_013382.7(POMT2):c.239C>T (p.Pro80Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002040904]	uncertain significance	14	77320443	77320443	Human	1	name
151782795	CV1499810	single nucleotide variant	NM_013382.7(POMT2):c.101C>T (p.Ala34Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001886513]	uncertain significance	14	77320581	77320581	Human	1	name
151794299	CV1500191	single nucleotide variant	NM_013382.7(POMT2):c.1518A>G (p.Pro506=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001910009]	likely benign\|uncertain significance	14	77285008	77285008	Human	1	name
151825701	CV1503672	single nucleotide variant	NM_013382.7(POMT2):c.224G>A (p.Arg75His)	Inborn genetic diseases [RCV003375509]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001973489]	uncertain significance	14	77320458	77320458	Human	2	name
151785851	CV1509862	single nucleotide variant	NM_013382.7(POMT2):c.227T>C (p.Leu76Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001892469]	uncertain significance	14	77320455	77320455	Human	1	name
152118602	CV1522391	single nucleotide variant	NM_013382.7(POMT2):c.1839C>T (p.Ser613=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002081239]	likely benign	14	77279875	77279875	Human	1	name
152148930	CV1528982	single nucleotide variant	NM_013382.7(POMT2):c.2214A>G (p.Pro738=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002101917]\|POMT2-related disorder [RCV003978793]	likely benign	14	77277415	77277415	Human	3	name , alternate_id
152045247	CV1556086	single nucleotide variant	NM_013382.7(POMT2):c.1479C>T (p.Pro493=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002206852]	likely benign	14	77285486	77285486	Human	1	name
152154918	CV1560882	single nucleotide variant	NM_013382.7(POMT2):c.2250T>C (p.Phe750=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002102801]	likely benign	14	77277379	77277379	Human	1	name
152093598	CV1570630	single nucleotide variant	NM_013382.7(POMT2):c.1029C>T (p.Ile343=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002213062]	likely benign	14	77296251	77296251	Human	1	name
152156318	CV1589527	single nucleotide variant	NM_013382.7(POMT2):c.1638C>T (p.His546=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002122481]	likely benign	14	77283812	77283812	Human	1	name
152027527	CV1628835	single nucleotide variant	NM_013382.7(POMT2):c.1935C>A (p.Leu645=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002104922]	likely benign	14	77278826	77278826	Human	1	name
152108349	CV1634846	single nucleotide variant	NM_013382.7(POMT2):c.1089C>T (p.Pro363=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002079908]	likely benign	14	77296191	77296191	Human	1	name
152173377	CV1637870	single nucleotide variant	NM_013382.7(POMT2):c.1320C>T (p.Thr440=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002162789]	likely benign	14	77286756	77286756	Human	1	name
152036682	CV1646005	single nucleotide variant	NM_013382.7(POMT2):c.2004A>C (p.Pro668=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002205704]	likely benign	14	77278757	77278757	Human	1	name
152125965	CV1646275	single nucleotide variant	NM_013382.7(POMT2):c.2058G>T (p.Arg686=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002217409]	likely benign	14	77278483	77278483	Human	1	name
152067517	CV1647196	single nucleotide variant	NM_013382.7(POMT2):c.1350A>T (p.Ser450=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002129170]	likely benign	14	77285615	77285615	Human	1	name
9688623	CV177616	single nucleotide variant	NM_013382.7(POMT2):c.1911T>G (p.Leu637=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001789206]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001510198]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001789204]\|Muscular dystrophy ... (more) -dystroglycanopathy (congenital with intellectual disability), type B2 [RCV001789205]\|not provided [RCV004714517]\|not specified [RCV000153051]	benign	14	77278850	77278850	Human	3	name
9692821	CV177619	single nucleotide variant	NM_013382.7(POMT2):c.1683T>C (p.Asn561=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001119000]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001085592]\|not provided [RCV000712835]\|not specified [RCV000153054]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77280434	77280434	Human	2	name
9688625	CV177620	single nucleotide variant	NM_013382.7(POMT2):c.1383G>A (p.Arg461=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001789209]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001514147]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001789207]\|Muscular dystrophy ... (more) -dystroglycanopathy (congenital with intellectual disability), type B2 [RCV001789208]\|not provided [RCV004714518]\|not specified [RCV000153056]	benign	14	77285582	77285582	Human	3	name
156375368	CV1872021	single nucleotide variant	NM_013382.7(POMT2):c.1464G>T (p.Ser488=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003066669]	likely benign	14	77285501	77285501	Human	1	name
156082689	CV1883785	single nucleotide variant	NM_013382.7(POMT2):c.1815C>T (p.Ile605=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003079923]	likely benign	14	77279899	77279899	Human	1	name
156300062	CV1890827	single nucleotide variant	NM_013382.7(POMT2):c.1071C>G (p.Ser357=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003087883]	likely benign	14	77296209	77296209	Human	1	name
156029771	CV1893524	single nucleotide variant	NM_013382.7(POMT2):c.2094G>A (p.Ala698=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003078043]	likely benign	14	77278447	77278447	Human	1	name
10050096	CV191410	single nucleotide variant	NM_013382.7(POMT2):c.1404A>G (p.Lys468=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001120972]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001078868]\|not provided [RCV000724261]\|not specified [RCV000195101]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77285561	77285561	Human	2	name
10050361	CV191811	single nucleotide variant	NM_013382.7(POMT2):c.1701C>G (p.Pro567=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000381501]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001087189]\|not provided [RCV000724544]\|not specified [RCV000175070]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77280416	77280416	Human	2	name
156041525	CV1918544	single nucleotide variant	NM_013382.7(POMT2):c.1110G>A (p.Gln370=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002620274]	likely benign	14	77296170	77296170	Human	1	name
10048038	CV192026	single nucleotide variant	NM_013382.7(POMT2):c.1881G>A (p.Ala627=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000327579]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648187]\|not provided [RCV001531816]\|not specified [RCV000175331]	benign\|likely benign\|uncertain significance	14	77279833	77279833	Human	2	name
156306073	CV1931368	single nucleotide variant	NM_013382.7(POMT2):c.127A>T (p.Lys43Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002647894]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003475518]	pathogenic\|likely pathogenic	14	77320555	77320555	Human	1	name
156446275	CV1951311	single nucleotide variant	NM_013382.7(POMT2):c.1461C>T (p.Ser487=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003117246]	likely benign	14	77285504	77285504	Human	1	name
156226233	CV1962614	single nucleotide variant	NM_013382.7(POMT2):c.1671A>G (p.Lys557=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002596640]	likely benign	14	77280446	77280446	Human	1	name
155910494	CV1980117	single nucleotide variant	NM_013382.7(POMT2):c.260C>G (p.Thr87Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002613953]	uncertain significance	14	77312022	77312022	Human	1	name
155997556	CV1986986	single nucleotide variant	NM_013382.7(POMT2):c.160G>A (p.Ala54Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002618297]\|not provided [RCV003491134]	uncertain significance	14	77320522	77320522	Human	1	name
156251312	CV2041068	single nucleotide variant	NM_013382.7(POMT2):c.1953C>T (p.Tyr651=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002806019]	likely benign	14	77278808	77278808	Human	1	name
10406816	CV208126	deletion	NM_013382.7(POMT2):c.678del (p.Trp226fs)	Muscular dystrophy [RCV000194245]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765233]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004567396]	pathogenic\|likely pathogenic	14	77301228	77301228	Human	3	name
10405457	CV208127	single nucleotide variant	NM_013382.7(POMT2):c.148C>G (p.Arg50Gly)	Inborn genetic diseases [RCV002517122]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000703683]\|not provided [RCV001508366]\|not specified [RCV000193136]	uncertain significance	14	77320534	77320534	Human	2	name
156215546	CV2085333	single nucleotide variant	NM_013382.7(POMT2):c.1818C>T (p.Ala606=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002893975]	likely benign	14	77279896	77279896	Human	1	name
155974799	CV2088762	single nucleotide variant	NM_013382.7(POMT2):c.1527A>G (p.Lys509=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002863483]	likely benign	14	77284999	77284999	Human	1	name
156128831	CV2100751	single nucleotide variant	NM_013382.7(POMT2):c.1674C>T (p.Pro558=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002889862]	likely benign	14	77280443	77280443	Human	1	name
156117082	CV2117593	single nucleotide variant	NM_013382.7(POMT2):c.1074C>T (p.His358=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002953352]	likely benign	14	77296206	77296206	Human	1	name
156041780	CV2117837	single nucleotide variant	NM_013382.7(POMT2):c.1782C>T (p.Asn594=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002923944]	likely benign	14	77280024	77280024	Human	1	name
156397014	CV2178312	single nucleotide variant	NM_013382.7(POMT2):c.2142C>A (p.Ala714=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003051943]	likely benign	14	77278399	77278399	Human	1	name
156075126	CV2291379	single nucleotide variant	NM_013382.7(POMT2):c.190G>T (p.Val64Leu)	Inborn genetic diseases [RCV002887108]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003777900]	uncertain significance	14	77320492	77320492	Human	2	name
243062308	CV2404702	deletion	NM_013382.7(POMT2):c.437del (p.Gly146fs)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RCV003140263]	pathogenic	14	77306338	77306338	Human		name
243050867	CV2413521	single nucleotide variant	NM_013382.7(POMT2):c.1455G>A (p.Leu485=)	not provided [RCV003130320]	uncertain significance	14	77285510	77285510	Human		name
11551255	CV255067	single nucleotide variant	NM_013382.7(POMT2):c.1912C>A (p.Arg638=)	not specified [RCV000252803]	likely benign	14	77278849	77278849	Human		name
11549501	CV255073	single nucleotide variant	NM_013382.7(POMT2):c.1408C>T (p.Leu470=)	not specified [RCV000250503]	likely benign	14	77285557	77285557	Human		name
11637573	CV266224	single nucleotide variant	NM_013382.7(POMT2):c.1920C>T (p.Gly640=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000559221]\|not provided [RCV000288282]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77278841	77278841	Human	1	name
11638421	CV266741	single nucleotide variant	NM_013382.7(POMT2):c.1743G>A (p.Gly581=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765594]\|not provided [RCV000725100]\|not specified [RCV000302233]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77280063	77280063	Human	1	name
11636611	CV267094	single nucleotide variant	NM_013382.7(POMT2):c.293A>C (p.Asn98Thr)	not provided [RCV000271734]	uncertain significance	14	77311989	77311989	Human		name
11642850	CV267675	single nucleotide variant	NM_013382.7(POMT2):c.1977G>C (p.Arg659=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765604]\|not provided [RCV000383254]	likely benign\|uncertain significance	14	77278784	77278784	Human	1	name
11640164	CV267714	single nucleotide variant	NM_013382.7(POMT2):c.2223A>G (p.Gly741=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001088538]\|not provided [RCV000333929]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77277406	77277406	Human	1	name
11638943	CV267896	single nucleotide variant	NM_013382.7(POMT2):c.1407G>T (p.Val469=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765609]\|not provided [RCV000311474]	likely benign\|uncertain significance	14	77285558	77285558	Human	1	name
11638666	CV268687	single nucleotide variant	NM_013382.7(POMT2):c.1935C>T (p.Leu645=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001089293]\|POMT2-related disorder [RCV003939993]\|not provided [RCV000307780]\|not specified [RCV001820818]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77278826	77278826	Human	3	name , alternate_id
11637393	CV269304	single nucleotide variant	NM_013382.7(POMT2):c.295C>T (p.Arg99Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV002288961]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002503994]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000694010]\|Muscular dystrophy ... (more) -dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003475906]\|not provided [RCV000285296]\|not specified [RCV001778879]	likely pathogenic\|uncertain significance	14	77311987	77311987	Human	3	name
11638036	CV270170	single nucleotide variant	NM_013382.7(POMT2):c.1620G>A (p.Glu540=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765634]\|not provided [RCV000295320]	likely benign\|uncertain significance	14	77283830	77283830	Human	1	name
11640576	CV270499	single nucleotide variant	NM_013382.7(POMT2):c.1396C>A (p.Arg466=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765640]\|not provided [RCV000340279]	likely benign\|uncertain significance	14	77285569	77285569	Human	1	name
11641157	CV272906	single nucleotide variant	NM_013382.7(POMT2):c.1290C>T (p.Ala430=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765660]\|not provided [RCV000350790]	likely benign\|uncertain significance	14	77286786	77286786	Human	1	name
11642933	CV273124	single nucleotide variant	NM_013382.7(POMT2):c.1824C>T (p.Tyr608=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001460392]\|not provided [RCV000384630]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77279890	77279890	Human	1	name
11641496	CV273355	single nucleotide variant	NM_013382.7(POMT2):c.1593G>A (p.Leu531=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648192]\|POMT2-related disorder [RCV003977804]\|not provided [RCV001527681]\|not specified [RCV000357691]	benign\|likely benign	14	77283857	77283857	Human	3	name , alternate_id
11643479	CV274765	single nucleotide variant	NM_013382.7(POMT2):c.1080C>T (p.His360=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765682]\|not provided [RCV000393483]	likely benign\|uncertain significance	14	77296200	77296200	Human	1	name
401948725	CV2835174	single nucleotide variant	NM_013382.7(POMT2):c.118C>T (p.Arg40Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472506]	likely pathogenic	14	77320564	77320564	Human	1	name
401948727	CV2835176	single nucleotide variant	NM_013382.7(POMT2):c.141G>A (p.Trp47Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472508]	likely pathogenic	14	77320541	77320541	Human	1	name
401948729	CV2835178	single nucleotide variant	NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472510]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005012971]	pathogenic\|likely pathogenic	14	77311995	77311995	Human	1	name
405024876	CV3081918	single nucleotide variant	NM_013382.7(POMT2):c.1917A>G (p.Gly639=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785524]	likely benign	14	77278844	77278844	Human	1	name
405001861	CV3082282	single nucleotide variant	NM_013382.7(POMT2):c.1077G>A (p.Arg359=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783539]	likely benign	14	77296203	77296203	Human	1	name
405026587	CV3082341	single nucleotide variant	NM_013382.7(POMT2):c.1293C>T (p.Pro431=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785792]	likely benign	14	77286783	77286783	Human	1	name
405026752	CV3082354	single nucleotide variant	NM_013382.7(POMT2):c.1374C>T (p.Val458=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785805]	likely benign	14	77285591	77285591	Human	1	name
405006309	CV3082823	single nucleotide variant	NM_013382.7(POMT2):c.1713T>C (p.Pro571=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783924]	likely benign	14	77280404	77280404	Human	1	name
405006501	CV3082840	single nucleotide variant	NM_013382.7(POMT2):c.1803T>C (p.Asn601=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783941]	likely benign	14	77279911	77279911	Human	1	name
405010679	CV3083363	single nucleotide variant	NM_013382.7(POMT2):c.1959G>T (p.Pro653=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003784310]	likely benign	14	77278802	77278802	Human	1	name
404985757	CV3083547	single nucleotide variant	NM_013382.7(POMT2):c.1995C>T (p.His665=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781897]	likely benign	14	77278766	77278766	Human	1	name
402514454	CV3085656	single nucleotide variant	NM_013382.7(POMT2):c.1179C>T (p.Asn393=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780583]	likely benign	14	77291318	77291318	Human	1	name
402522767	CV3086610	single nucleotide variant	NM_013382.7(POMT2):c.1536C>T (p.Leu512=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781227]	likely benign	14	77284990	77284990	Human	1	name
404982222	CV3086812	single nucleotide variant	NM_013382.7(POMT2):c.1452C>T (p.Val484=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781430]	likely benign	14	77285513	77285513	Human	1	name
404982859	CV3086899	single nucleotide variant	NM_013382.7(POMT2):c.1776T>G (p.Leu592=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781518]	likely benign	14	77280030	77280030	Human	1	name
404984378	CV3087247	single nucleotide variant	NM_013382.7(POMT2):c.2205C>A (p.Pro735=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003781710]	likely benign	14	77277424	77277424	Human	1	name
402513050	CV3087466	single nucleotide variant	NM_013382.7(POMT2):c.1137G>A (p.Lys379=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789817]	likely benign	14	77291360	77291360	Human	1	name
402515941	CV3087686	single nucleotide variant	NM_013382.7(POMT2):c.2049C>T (p.Thr683=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003790037]	likely benign	14	77278492	77278492	Human	1	name
402516930	CV3087762	single nucleotide variant	NM_013382.7(POMT2):c.2163C>T (p.His721=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003790115]	likely benign	14	77277466	77277466	Human	1	name
402517268	CV3087787	single nucleotide variant	NM_013382.7(POMT2):c.2088C>T (p.Pro696=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003790140]	likely benign	14	77278453	77278453	Human	1	name
404994575	CV3088336	single nucleotide variant	NM_013382.7(POMT2):c.1875G>C (p.Leu625=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003793113]	likely benign	14	77279839	77279839	Human	1	name
404995395	CV3088421	single nucleotide variant	NM_013382.7(POMT2):c.1998C>T (p.Tyr666=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003793198]	likely benign	14	77278763	77278763	Human	1	name
404993472	CV3089057	single nucleotide variant	NM_013382.7(POMT2):c.1056C>T (p.Ile352=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003782703]	likely benign	14	77296224	77296224	Human	1	name
402515221	CV3089775	single nucleotide variant	NM_013382.7(POMT2):c.1453C>T (p.Leu485=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780650]	likely benign	14	77285512	77285512	Human	1	name
402516736	CV3089873	single nucleotide variant	NM_013382.7(POMT2):c.2055G>A (p.Leu685=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780750]	likely benign	14	77278486	77278486	Human	1	name
402505181	CV3090244	single nucleotide variant	NM_013382.7(POMT2):c.2142C>T (p.Ala714=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003789012]	likely benign	14	77278399	77278399	Human	1	name
402491731	CV3091104	single nucleotide variant	NM_013382.7(POMT2):c.2145C>T (p.Tyr715=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787609]	likely benign	14	77278396	77278396	Human	1	name
402492350	CV3091192	single nucleotide variant	NM_013382.7(POMT2):c.1494G>A (p.Glu498=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787698]	likely benign	14	77285032	77285032	Human	1	name
402521225	CV3091996	single nucleotide variant	NM_013382.7(POMT2):c.1482G>A (p.Lys494=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003790442]	likely benign	14	77285483	77285483	Human	1	name
402496628	CV3092514	single nucleotide variant	NM_013382.7(POMT2):c.2061C>T (p.Leu687=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788134]	likely benign	14	77278480	77278480	Human	1	name
402497111	CV3092561	single nucleotide variant	NM_013382.7(POMT2):c.1800G>C (p.Leu600=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788181]	likely benign	14	77279914	77279914	Human	1	name
405019636	CV3094473	single nucleotide variant	NM_013382.7(POMT2):c.2082A>G (p.Ser694=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003785163]	likely benign	14	77278459	77278459	Human	1	name
405029956	CV3095181	single nucleotide variant	NM_013382.7(POMT2):c.2082A>T (p.Ser694=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003796386]	likely benign	14	77278459	77278459	Human	1	name
405030648	CV3095212	single nucleotide variant	NM_013382.7(POMT2):c.227T>A (p.Leu76Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003796418]	pathogenic	14	77320455	77320455	Human	1	name
405004400	CV3095917	single nucleotide variant	NM_013382.7(POMT2):c.2034C>T (p.Gly678=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003794067]	likely benign	14	77278507	77278507	Human	1	name
405005348	CV3096013	single nucleotide variant	NM_013382.7(POMT2):c.1908G>A (p.Leu636=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003794163]	likely benign	14	77278853	77278853	Human	1	name
405008145	CV3096241	single nucleotide variant	NM_013382.7(POMT2):c.1150C>T (p.Leu384=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003794391]	likely benign	14	77291347	77291347	Human	1	name
404988539	CV3097094	single nucleotide variant	NM_013382.7(POMT2):c.1371G>A (p.Glu457=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003792483]	likely benign	14	77285594	77285594	Human	1	name
405048721	CV3097501	single nucleotide variant	NM_013382.7(POMT2):c.292A>C (p.Asn98His)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003808081]	uncertain significance	14	77311990	77311990	Human	1	name
404982169	CV3100057	single nucleotide variant	NM_013382.7(POMT2):c.1593G>C (p.Leu531=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003791724]	likely benign	14	77283857	77283857	Human	1	name
405074786	CV3100217	single nucleotide variant	NM_013382.7(POMT2):c.1986C>T (p.Tyr662=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003799770]	likely benign	14	77278775	77278775	Human	1	name
405021554	CV3101311	single nucleotide variant	NM_013382.7(POMT2):c.2079C>T (p.Ala693=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003805890]	likely benign	14	77278462	77278462	Human	1	name
405002220	CV3102055	single nucleotide variant	NM_013382.7(POMT2):c.1746C>A (p.Val582=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003804100]	likely benign	14	77280060	77280060	Human	1	name
405004633	CV3102273	single nucleotide variant	NM_013382.7(POMT2):c.1119C>T (p.Val373=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003804319]	likely benign	14	77291378	77291378	Human	1	name
405168496	CV3104124	single nucleotide variant	NM_013382.7(POMT2):c.2241A>G (p.Ser747=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003802801]	likely benign	14	77277388	77277388	Human	1	name
405093610	CV3105470	single nucleotide variant	NM_013382.7(POMT2):c.1926G>A (p.Gln642=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801186]	likely benign	14	77278835	77278835	Human	1	name
405009197	CV3105980	single nucleotide variant	NM_013382.7(POMT2):c.1944A>C (p.Thr648=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003794478]	likely benign	14	77278817	77278817	Human	1	name
405035809	CV3106179	single nucleotide variant	NM_013382.7(POMT2):c.2190C>T (p.Pro730=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003796870]	likely benign	14	77277439	77277439	Human	1	name
405008940	CV3109021	single nucleotide variant	NM_013382.7(POMT2):c.2074T>C (p.Leu692=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003804688]	likely benign	14	77278467	77278467	Human	1	name
405156266	CV3109304	single nucleotide variant	NM_013382.7(POMT2):c.1206A>G (p.Pro402=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801827]	likely benign	14	77288809	77288809	Human	1	name
405156404	CV3109315	single nucleotide variant	NM_013382.7(POMT2):c.2121G>A (p.Leu707=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801838]	likely benign	14	77278420	77278420	Human	1	name
405157065	CV3109392	single nucleotide variant	NM_013382.7(POMT2):c.2151C>T (p.Phe717=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801916]	likely benign	14	77277478	77277478	Human	1	name
405164555	CV3110109	single nucleotide variant	NM_013382.7(POMT2):c.2082A>C (p.Ser694=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003802468]	likely benign	14	77278459	77278459	Human	1	name
405066352	CV3110917	single nucleotide variant	NM_013382.7(POMT2):c.2121G>C (p.Leu707=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003809421]	likely benign	14	77278420	77278420	Human	1	name
405066368	CV3110918	single nucleotide variant	NM_013382.7(POMT2):c.1261C>A (p.Arg421=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003809422]	likely benign	14	77286815	77286815	Human	1	name
405108175	CV3112258	single nucleotide variant	NM_013382.7(POMT2):c.1740A>C (p.Ser580=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003813101]	likely benign	14	77280066	77280066	Human	1	name
405108411	CV3112308	single nucleotide variant	NM_013382.7(POMT2):c.1767C>G (p.Val589=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003813151]	likely benign	14	77280039	77280039	Human	1	name
405108723	CV3112370	single nucleotide variant	NM_013382.7(POMT2):c.2130C>T (p.Leu710=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003813213]	likely benign	14	77278411	77278411	Human	1	name
405040701	CV3112810	single nucleotide variant	NM_013382.7(POMT2):c.1539C>T (p.Asn513=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003807477]	likely benign	14	77284987	77284987	Human	1	name
405083750	CV3113614	single nucleotide variant	NM_013382.7(POMT2):c.2166T>C (p.Pro722=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003810631]	likely benign	14	77277463	77277463	Human	1	name
405107541	CV3113828	single nucleotide variant	NM_013382.7(POMT2):c.1239A>C (p.Arg413=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003812951]	likely benign	14	77288776	77288776	Human	1	name
405012306	CV3113978	single nucleotide variant	NM_013382.7(POMT2):c.1668C>G (p.Leu556=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003805000]	likely benign	14	77280449	77280449	Human	1	name
405165248	CV3114137	single nucleotide variant	NM_013382.7(POMT2):c.1635C>T (p.Ser545=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003802551]	likely benign	14	77283815	77283815	Human	1	name
405012706	CV3114183	deletion	NM_013382.7(POMT2):c.383del (p.Leu128fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003805037]	pathogenic	14	77306392	77306392	Human	1	name
405283414	CV3217138	single nucleotide variant	NM_013382.7(POMT2):c.2038C>T (p.Leu680=)	POMT2-related disorder [RCV003979250]	likely benign	14	77278503	77278503	Human		name , trait , alternate_id
405668231	CV3369772	single nucleotide variant	NM_013382.7(POMT2):c.244A>G (p.Ile82Val)	Inborn genetic diseases [RCV004514608]\|not provided [RCV004759405]	pathogenic\|uncertain significance	14	77320438	77320438	Human	1	name
11624695	CV337438	single nucleotide variant	NM_013382.7(POMT2):c.1464G>A (p.Ser488=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000389619]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001324454]\|not provided [RCV004693198]	likely benign\|uncertain significance	14	77285501	77285501	Human	2	name
405855040	CV3395566	single nucleotide variant	NM_013382.7(POMT2):c.247T>A (p.Cys83Ser)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RCV004555814]	uncertain significance	14	77320435	77320435	Human	1	name
407482146	CV3461084	single nucleotide variant	NM_013382.7(POMT2):c.149G>A (p.Arg50Gln)	Inborn genetic diseases [RCV004664713]	likely benign	14	77320533	77320533	Human	1	name
12847410	CV373188	single nucleotide variant	NM_013382.7(POMT2):c.1983C>T (p.Leu661=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001427873]\|not specified [RCV000443431]	likely benign	14	77278778	77278778	Human	1	name
12839600	CV373193	single nucleotide variant	NM_013382.7(POMT2):c.1206A>C (p.Pro402=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001089064]\|not provided [RCV000727451]\|not specified [RCV000429115]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77288809	77288809	Human	1	name
12847051	CV373195	single nucleotide variant	NM_013382.7(POMT2):c.1017C>T (p.Tyr339=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002062479]\|not provided [RCV000727087]\|not specified [RCV000442800]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77296263	77296263	Human	1	name
12832858	CV373917	single nucleotide variant	NM_013382.7(POMT2):c.1944A>G (p.Thr648=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001520196]\|not specified [RCV000417408]	benign\|likely benign	14	77278817	77278817	Human	1	name
597882421	CV3865886	single nucleotide variant	NM_013382.7(POMT2):c.1917A>C (p.Gly639=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005217551]	likely benign	14	77278844	77278844	Human	1	name
597908175	CV3870432	deletion	NM_013382.7(POMT2):c.874del (p.Ala292fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005221483]	pathogenic	14	77299504	77299504	Human	1	name
597856071	CV3870712	single nucleotide variant	NM_013382.7(POMT2):c.2124C>T (p.Ser708=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005228913]	likely benign	14	77278417	77278417	Human	1	name
597889417	CV3871309	single nucleotide variant	NM_013382.7(POMT2):c.1734C>T (p.Arg578=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005218642]	likely benign	14	77280072	77280072	Human	1	name
597891502	CV3871768	single nucleotide variant	NM_013382.7(POMT2):c.1851A>G (p.Val617=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005218937]	likely benign	14	77279863	77279863	Human	1	name
597841044	CV3873641	deletion	NM_013382.7(POMT2):c.748del (p.Ile250fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005226468]	pathogenic	14	77301158	77301158	Human	1	name
597899185	CV3876172	single nucleotide variant	NM_013382.7(POMT2):c.1257T>G (p.Thr419=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005220062]	likely benign	14	77286819	77286819	Human	1	name
597839417	CV3877507	single nucleotide variant	NM_013382.7(POMT2):c.1689C>T (p.Phe563=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005226161]	likely benign	14	77280428	77280428	Human	1	name
597843798	CV3877654	single nucleotide variant	NM_013382.7(POMT2):c.1872G>A (p.Arg624=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005227005]	likely benign	14	77279842	77279842	Human	1	name
597844145	CV3877707	single nucleotide variant	NM_013382.7(POMT2):c.232G>T (p.Glu78Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005227058]	pathogenic	14	77320450	77320450	Human	1	name
597843014	CV3878397	single nucleotide variant	NM_013382.7(POMT2):c.1920C>A (p.Gly640=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005226887]	likely benign	14	77278841	77278841	Human	1	name
597910842	CV3879449	single nucleotide variant	NM_013382.7(POMT2):c.1848T>C (p.Ala616=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005221849]	likely benign	14	77279866	77279866	Human	1	name
598158903	CV3900902	single nucleotide variant	NM_013382.7(POMT2):c.245T>G (p.Ile82Ser)	Inborn genetic diseases [RCV005260589]	uncertain significance	14	77320437	77320437	Human	1	name
616933195	CV4012819	single nucleotide variant	NM_013382.7(POMT2):c.296G>T (p.Arg99Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV005410282]	likely pathogenic	14	77311986	77311986	Human	1	name
13486210	CV445255	single nucleotide variant	NM_013382.7(POMT2):c.134C>G (p.Pro45Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000707422]\|not provided [RCV000522834]	uncertain significance	14	77320548	77320548	Human	1	name
13476570	CV445256	single nucleotide variant	NM_013382.7(POMT2):c.128A>G (p.Lys43Arg)	Inborn genetic diseases [RCV002525207]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000550102]\|not provided [RCV000726943]	uncertain significance	14	77320554	77320554	Human	2	name
13483915	CV464399	single nucleotide variant	NM_013382.7(POMT2):c.1512C>T (p.Cys504=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000552522]	likely benign	14	77285014	77285014	Human	1	name
13464627	CV464525	single nucleotide variant	NM_013382.7(POMT2):c.1467A>T (p.Gly489=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000542315]	uncertain significance	14	77285498	77285498	Human	1	name
13494100	CV464531	single nucleotide variant	NM_013382.7(POMT2):c.1317C>T (p.Val439=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001432722]	likely benign	14	77286759	77286759	Human	1	name
13518295	CV488584	single nucleotide variant	NM_013382.7(POMT2):c.1785G>C (p.Pro595=)	not provided [RCV000597232]	uncertain significance	14	77280021	77280021	Human		name
13521968	CV489095	single nucleotide variant	NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)	Inborn genetic diseases [RCV004024714]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002476283]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648181]\|not provided [RCV000712837]	likely benign\|uncertain significance	14	77320453	77320453	Human	3	name
13517474	CV493181	single nucleotide variant	NM_013382.7(POMT2):c.224G>C (p.Arg75Pro)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003767400]\|not provided [RCV000596550]	uncertain significance	14	77320458	77320458	Human	1	name
13533725	CV504620	single nucleotide variant	NM_013382.7(POMT2):c.2013C>T (p.Leu671=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001474568]\|not specified [RCV000607179]	likely benign	14	77278748	77278748	Human	1	name
13533389	CV505122	single nucleotide variant	NM_013382.7(POMT2):c.2112G>A (p.Ala704=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002063303]\|not specified [RCV000607077]	likely benign	14	77278429	77278429	Human	1	name
13541336	CV505544	single nucleotide variant	NM_013382.7(POMT2):c.1932G>A (p.Leu644=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001479650]\|not specified [RCV000616022]	likely benign	14	77278829	77278829	Human	1	name
13621280	CV528770	single nucleotide variant	NM_013382.7(POMT2):c.1959G>A (p.Pro653=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648184]	likely benign	14	77278802	77278802	Human	1	name
13706094	CV537234	single nucleotide variant	NM_013382.7(POMT2):c.1785G>A (p.Pro595=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001855380]\|not provided [RCV000658699]\|not specified [RCV002509493]	conflicting interpretations of pathogenicity\|uncertain significance	14	77280021	77280021	Human	1	name
13813677	CV566661	single nucleotide variant	NM_013382.7(POMT2):c.242A>G (p.His81Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000704520]	uncertain significance	14	77320440	77320440	Human	1	name
13818136	CV566666	single nucleotide variant	NM_013382.7(POMT2):c.160G>T (p.Ala54Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000693505]	uncertain significance	14	77320522	77320522	Human	1	name
13808191	CV566667	single nucleotide variant	NM_013382.7(POMT2):c.133C>T (p.Pro45Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000687156]\|not provided [RCV001093130]	uncertain significance	14	77320549	77320549	Human	1	name
13811108	CV577369	single nucleotide variant	NM_013382.7(POMT2):c.275T>C (p.Met92Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002532939]\|not provided [RCV000712839]\|not specified [RCV003987678]	uncertain significance	14	77312007	77312007	Human	1	name
13833905	CV585145	single nucleotide variant	NM_013382.7(POMT2):c.106G>C (p.Glu36Gln)	not provided [RCV000729295]	uncertain significance	14	77320576	77320576	Human		name
13835716	CV586978	deletion	NM_013382.7(POMT2):c.672del (p.Trp225fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002535223]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004569415]\|not provided [RCV000731600]	pathogenic\|likely pathogenic	14	77301234	77301234	Human	1	name
13836599	CV587875	single nucleotide variant	NM_013382.7(POMT2):c.169T>G (p.Trp57Gly)	not provided [RCV000732764]	uncertain significance	14	77320513	77320513	Human		name
13837163	CV588449	single nucleotide variant	NM_013382.7(POMT2):c.124C>T (p.Pro42Ser)	not provided [RCV000733486]	uncertain significance	14	77320558	77320558	Human		name
14738297	CV642748	deletion	NM_013382.7(POMT2):c.673del (p.Trp225fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000804444]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472378]	pathogenic\|likely pathogenic	14	77301233	77301233	Human	1	name
15131361	CV693601	single nucleotide variant	NM_013382.7(POMT2):c.2241A>T (p.Ser747=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002064833]	likely benign	14	77277388	77277388	Human	1	name
15140119	CV693602	single nucleotide variant	NM_013382.7(POMT2):c.1599G>A (p.Val533=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000877436]	likely benign	14	77283851	77283851	Human	1	name
15098429	CV725836	single nucleotide variant	NM_013382.7(POMT2):c.2127G>A (p.Leu709=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002065575]\|not specified [RCV001288361]	benign\|likely benign	14	77278414	77278414	Human	1	name
15177233	CV725837	single nucleotide variant	NM_013382.7(POMT2):c.1875G>T (p.Leu625=)	not provided [RCV000884773]	likely benign	14	77279839	77279839	Human		name
15182201	CV739354	single nucleotide variant	NM_013382.7(POMT2):c.1887T>G (p.Val629=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003768795]	likely benign	14	77279827	77279827	Human	1	name
15129815	CV754176	single nucleotide variant	NM_013382.7(POMT2):c.1659C>T (p.Asn553=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003768832]	likely benign	14	77280458	77280458	Human	1	name
15103672	CV754177	single nucleotide variant	NM_013382.7(POMT2):c.1272C>T (p.His424=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002540886]	likely benign	14	77286804	77286804	Human	1	name
15198488	CV769925	single nucleotide variant	NM_013382.7(POMT2):c.1902G>A (p.Gln634=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001438152]	likely benign	14	77278859	77278859	Human	1	name
15108435	CV784793	single nucleotide variant	NM_013382.7(POMT2):c.1854C>T (p.Ala618=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001402913]	likely benign	14	77279860	77279860	Human	1	name
15135829	CV784794	single nucleotide variant	NM_013382.7(POMT2):c.1221A>G (p.Arg407=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001470707]	likely benign	14	77288794	77288794	Human	1	name
15128049	CV784795	single nucleotide variant	NM_013382.7(POMT2):c.1009C>T (p.Leu337=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001425742]	likely benign	14	77296271	77296271	Human	1	name
26885619	CV841855	single nucleotide variant	NM_013382.7(POMT2):c.134C>T (p.Pro45Leu)	Inborn genetic diseases [RCV003259047]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001043664]\|not specified [RCV001819758]	uncertain significance	14	77320548	77320548	Human	2	name
28885282	CV872744	single nucleotide variant	NM_013382.7(POMT2):c.1692G>A (p.Thr564=)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001118999]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001419327]\|POMT2-related disorder [RCV003906223]	likely benign\|uncertain significance	14	77280425	77280425	Human	3	name , alternate_id
8635298	CV90520	single nucleotide variant	NM_013382.7(POMT2):c.1044C>T (p.Leu348=)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003787982]	likely benign\|not provided	14	77296236	77296236	Human	1	name
38476073	CV927187	single nucleotide variant	NM_013382.7(POMT2):c.245T>A (p.Ile82Asn)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001215472]	uncertain significance	14	77320437	77320437	Human	1	name
38483683	CV936753	deletion	NM_013382.7(POMT2):c.791del (p.Leu264fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001207741]	pathogenic	14	77301115	77301115	Human	1	name
41406364	CV982900	single nucleotide variant	NM_013382.7(POMT2):c.124C>G (p.Pro42Ala)	not provided [RCV001288359]	uncertain significance	14	77320558	77320558	Human		name
126754667	CV1011255	single nucleotide variant	NM_013382.7(POMT2):c.997A>G (p.Ile333Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001316761]	uncertain significance	14	77298698	77298698	Human	1	name
8642459	CV101442	single nucleotide variant	NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)	Intellectual disability [RCV001252356]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000550659]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000989247]\|not provided [RCV000081574]	likely pathogenic\|uncertain significance	14	77311962	77311962	Human	3	name
8642460	CV101443	single nucleotide variant	NM_013382.7(POMT2):c.559C>T (p.Leu187Phe)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002513833]\|not provided [RCV000081576]	conflicting interpretations of pathogenicity\|uncertain significance	14	77302932	77302932	Human	1	name
150330446	CV1166934	duplication	NM_013382.7(POMT2):c.2167dup (p.Leu723fs)	POMGNT1-related disorder [RCV001535535]	likely pathogenic\|not provided	14	77277461	77277462	Human		name
150424505	CV1184923	deletion	NM_013382.7(POMT2):c.1183+257_1183+260del	not provided [RCV001556750]	likely benign	14	77291054	77291057	Human		name
151351891	CV1322092	deletion	NM_013382.7(POMT2):c.2201del (p.Asp734fs)	not specified [RCV001806714]	uncertain significance	14	77277428	77277428	Human		name
151351443	CV1323455	single nucleotide variant	NM_013382.7(POMT2):c.512C>T (p.Ser171Leu)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV001806311]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001869563]\|not provided [RCV003132537]	uncertain significance	14	77304727	77304727	Human	2	name
151729290	CV1335341	single nucleotide variant	NM_013382.7(POMT2):c.558C>G (p.Cys186Trp)	not specified [RCV001844659]	uncertain significance	14	77302933	77302933	Human		name
8657650	CV135463	single nucleotide variant	NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)	Autosomal recessive limb-girdle muscular dystrophy [RCV001778739]\|Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000118041]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003474722]\|Muscular dystrophy-dystroglycanopathy (congenital with b ... (more) rain and eye anomalies), type A2 [RCV005008018]\|not provided [RCV000497603]	likely pathogenic\|conflicting interpretations of pathogenicity	14	77299497	77299497	Human	3	name
151806881	CV1371682	deletion	NM_013382.7(POMT2):c.1300del (p.Arg434fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001933393]	pathogenic	14	77286776	77286776	Human	1	name
151823653	CV1387683	single nucleotide variant	NM_013382.7(POMT2):c.587A>T (p.Asp196Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001969593]	uncertain significance	14	77302904	77302904	Human	1	name
151718260	CV1413803	single nucleotide variant	NM_013382.7(POMT2):c.485C>T (p.Thr162Ile)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002029157]	uncertain significance	14	77304754	77304754	Human	1	name
151711169	CV1420207	single nucleotide variant	NM_013382.7(POMT2):c.866T>G (p.Leu289Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002001313]	uncertain significance	14	77299512	77299512	Human	1	name
151721807	CV1420527	single nucleotide variant	NM_013382.7(POMT2):c.636G>C (p.Lys212Asn)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002041136]	uncertain significance	14	77302855	77302855	Human	1	name
151825072	CV1422347	single nucleotide variant	NM_013382.7(POMT2):c.961G>A (p.Ala321Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001972238]	uncertain significance	14	77298734	77298734	Human	1	name
151717312	CV1424380	single nucleotide variant	NM_013382.7(POMT2):c.583C>G (p.Leu195Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002025847]	uncertain significance	14	77302908	77302908	Human	1	name
151712359	CV1430426	single nucleotide variant	NM_013382.7(POMT2):c.874G>C (p.Ala292Pro)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002006778]	uncertain significance	14	77299504	77299504	Human	1	name
151824910	CV1467474	single nucleotide variant	NM_013382.7(POMT2):c.678G>A (p.Trp226Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001971921]	pathogenic\|likely pathogenic	14	77301228	77301228	Human	1	name
151829499	CV1487727	single nucleotide variant	NM_013382.7(POMT2):c.807T>G (p.Ser269Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001981367]	uncertain significance	14	77301099	77301099	Human	1	name
151822916	CV1494783	single nucleotide variant	NM_013382.7(POMT2):c.620T>C (p.Met207Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001968167]\|not provided [RCV002473338]	uncertain significance	14	77302871	77302871	Human	1	name
151716568	CV1498959	deletion	NM_013382.7(POMT2):c.2159del (p.Phe720fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV005361924]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002023852]	likely pathogenic	14	77277470	77277470	Human	2	name
151782815	CV1499908	single nucleotide variant	NM_013382.7(POMT2):c.985C>T (p.His329Tyr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001886540]	uncertain significance	14	77298710	77298710	Human	1	name
153304599	CV1687156	single nucleotide variant	NM_013382.7(POMT2):c.733G>A (p.Val245Ile)	not provided [RCV002262444]	uncertain significance	14	77301173	77301173	Human		name
155749799	CV1772466	single nucleotide variant	NM_013382.7(POMT2):c.929C>T (p.Pro310Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002305030]	uncertain significance	14	77298766	77298766	Human	1	name
155716435	CV1774190	single nucleotide variant	NM_013382.7(POMT2):c.475G>T (p.Ala159Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002296461]	uncertain significance	14	77304764	77304764	Human	1	name
155742177	CV1777208	single nucleotide variant	NM_013382.7(POMT2):c.855C>G (p.Cys285Trp)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002302892]	uncertain significance	14	77299523	77299523	Human	1	name
155743170	CV1777476	single nucleotide variant	NM_013382.7(POMT2):c.970T>C (p.Ser324Pro)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002302976]	uncertain significance	14	77298725	77298725	Human	1	name
8557282	CV18259	deletion	NM_013382.7(POMT2):c.1261del (p.Arg421fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000003375]	pathogenic	14	77286815	77286815	Human	1	name
8557289	CV18266	single nucleotide variant	NM_013382.7(POMT2):c.593T>A (p.Ile198Asn)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000003383]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001294512]\|not provided [RCV000732507]	pathogenic\|uncertain significance\|not provided	14	77302898	77302898	Human	1	name
8557290	CV18267	single nucleotide variant	NM_013382.7(POMT2):c.737G>A (p.Gly246Asp)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RCV000003384]	pathogenic	14	77301169	77301169	Human	1	name
8557291	CV18268	single nucleotide variant	NM_013382.7(POMT2):c.551C>T (p.Thr184Met)	Autosomal recessive limb-girdle muscular dystrophy [RCV004700184]\|Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000003385]\|Intellectual disability [RCV001252357]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001203060]\|Muscular dystroph ... (more) y-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472965]\|not provided [RCV000723643]	pathogenic\|likely pathogenic\|uncertain significance	14	77302940	77302940	Human	5	name
156410637	CV1882648	single nucleotide variant	NM_013382.7(POMT2):c.917G>A (p.Ser306Asn)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003072151]	uncertain significance	14	77299461	77299461	Human	1	name
156404317	CV1886644	single nucleotide variant	NM_013382.7(POMT2):c.332A>G (p.Lys111Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003069680]	uncertain significance	14	77311950	77311950	Human	1	name
156412723	CV1886875	single nucleotide variant	NM_013382.7(POMT2):c.957C>G (p.Phe319Leu)	Inborn genetic diseases [RCV005264348]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003073009]	uncertain significance	14	77298738	77298738	Human	2	name
10045288	CV189090	deletion	NM_013382.7(POMT2):c.1603del (p.Gln535fs)	not provided [RCV000171478]	likely pathogenic	14	77283847	77283847	Human		name
156271849	CV1899473	single nucleotide variant	NM_013382.7(POMT2):c.989A>G (p.Asn330Ser)	Inborn genetic diseases [RCV004073219]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003086810]	uncertain significance	14	77298706	77298706	Human	2	name
156029970	CV1910616	single nucleotide variant	NM_013382.7(POMT2):c.533C>A (p.Ala178Asp)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002619806]	uncertain significance	14	77304706	77304706	Human	1	name
156372217	CV1923686	single nucleotide variant	NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002633495]	uncertain significance	14	77301216	77301216	Human	1	name
156067263	CV1927931	single nucleotide variant	NM_013382.7(POMT2):c.530C>T (p.Ala177Val)	Inborn genetic diseases [RCV002638486]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002638485]	uncertain significance	14	77304709	77304709	Human	2	name
156040181	CV1929530	single nucleotide variant	NM_013382.7(POMT2):c.937G>A (p.Gly313Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002637542]	uncertain significance	14	77298758	77298758	Human	1	name
156442489	CV1938718	single nucleotide variant	NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003112834]	uncertain significance	14	77301235	77301235	Human	1	name
10048879	CV194956	single nucleotide variant	NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000335274]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001081717]\|not provided [RCV000553857]\|not specified [RCV000178927]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77302839	77302839	Human	2	name
10052535	CV194957	single nucleotide variant	NM_013382.7(POMT2):c.643T>C (p.Ser215Pro)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005222795]\|not provided [RCV000178928]	uncertain significance	14	77302848	77302848	Human	1	name
10053054	CV195715	single nucleotide variant	NM_013382.7(POMT2):c.890C>T (p.Thr297Ile)	Inborn genetic diseases [RCV004955304]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001852239]\|not provided [RCV000179936]	likely benign\|uncertain significance	14	77299488	77299488	Human	2	name
10053055	CV195716	single nucleotide variant	NM_013382.7(POMT2):c.884C>T (p.Thr295Ile)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002517758]\|not provided [RCV000179937]	uncertain significance	14	77299494	77299494	Human	1	name
156416988	CV1970142	single nucleotide variant	NM_013382.7(POMT2):c.773T>C (p.Ile258Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002589977]	uncertain significance	14	77301133	77301133	Human	1	name
156320908	CV2014480	single nucleotide variant	NM_013382.7(POMT2):c.781C>T (p.Leu261Phe)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002672183]	uncertain significance	14	77301125	77301125	Human	1	name
156039148	CV2047838	single nucleotide variant	NM_013382.7(POMT2):c.844C>G (p.Arg282Gly)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002781425]	uncertain significance	14	77299534	77299534	Human	1	name
156265338	CV2059579	single nucleotide variant	NM_013382.7(POMT2):c.780C>A (p.Asp260Glu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002806471]	uncertain significance	14	77301126	77301126	Human	1	name
155974277	CV2079407	deletion	NM_013382.7(POMT2):c.1981del (p.Leu661fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002881630]	pathogenic	14	77278780	77278780	Human	1	name
156332276	CV2188145	single nucleotide variant	NM_013382.7(POMT2):c.895G>A (p.Ala299Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003063766]	uncertain significance	14	77299483	77299483	Human	1	name
11346491	CV226479	single nucleotide variant	NM_013382.7(POMT2):c.629T>C (p.Met210Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002057057]\|not provided [RCV001596986]\|not specified [RCV000228691]	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77302862	77302862	Human	1	name
156451278	CV2402671	single nucleotide variant	NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)	Autosomal recessive limb-girdle muscular dystrophy [RCV003123477]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003475531]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003778672]	pathogenic\|likely pathogenic	14	77301120	77301120	Human	2	name
243061017	CV2409281	deletion	NM_013382.7(POMT2):c.1159del (p.Ile387fs)	not provided [RCV003137152]	pathogenic	14	77291338	77291338	Human		name
243050852	CV2413518	single nucleotide variant	NM_013382.7(POMT2):c.869C>T (p.Pro290Leu)	not provided [RCV003130319]	uncertain significance	14	77299509	77299509	Human		name
243064052	CV2413520	single nucleotide variant	NM_013382.7(POMT2):c.652G>T (p.Asp218Tyr)	not provided [RCV003142692]	uncertain significance	14	77302839	77302839	Human		name
243059622	CV2413525	single nucleotide variant	NM_013382.7(POMT2):c.740T>A (p.Leu247His)	not provided [RCV003135118]	uncertain significance	14	77301166	77301166	Human		name
243050893	CV2413526	single nucleotide variant	NM_013382.7(POMT2):c.971C>T (p.Ser324Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005227892]\|not provided [RCV003130323]	uncertain significance	14	77298724	77298724	Human	1	name
243059623	CV2413531	single nucleotide variant	NM_013382.7(POMT2):c.965G>A (p.Arg322Gln)	not provided [RCV003135119]	uncertain significance	14	77298730	77298730	Human		name
243056531	CV2418813	single nucleotide variant	NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)	Autosomal recessive limb-girdle muscular dystrophy [RCV003155780]	likely pathogenic	14	77301121	77301121	Human	1	name
11639347	CV267076	single nucleotide variant	NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001081512]\|not provided [RCV000725152]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77302842	77302842	Human	1	name
11638575	CV268496	single nucleotide variant	NM_013382.7(POMT2):c.829A>G (p.Lys277Glu)	not provided [RCV000304908]	uncertain significance	14	77299549	77299549	Human		name
11640090	CV269459	single nucleotide variant	NM_013382.7(POMT2):c.621G>A (p.Met207Ile)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000820051]\|not provided [RCV000332567]	uncertain significance	14	77302870	77302870	Human	1	name
11632853	CV269708	duplication	NM_013382.7(POMT2):c.1658dup (p.Asn553fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003475908]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003765630]\|not provided [RCV000291337]	pathogenic\|likely pathogenic	14	77280458	77280459	Human	1	name
11641394	CV269856	single nucleotide variant	NM_013382.7(POMT2):c.844C>T (p.Arg282Cys)	Inborn genetic diseases [RCV004021180]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002494848]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001855154]\|not provided [RCV000356061]	uncertain significance	14	77299534	77299534	Human	3	name
11643052	CV272179	single nucleotide variant	NM_013382.7(POMT2):c.613G>A (p.Ala205Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001207430]\|not provided [RCV000386898]	uncertain significance	14	77302878	77302878	Human	1	name
11639014	CV272893	single nucleotide variant	NM_013382.7(POMT2):c.662T>A (p.Phe221Tyr)	not provided [RCV000313904]	uncertain significance	14	77301244	77301244	Human		name
11580473	CV273920	single nucleotide variant	NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648179]\|not provided [RCV000596523]	pathogenic\|likely pathogenic	14	77298737	77298737	Human	1	name
401828005	CV2744377	single nucleotide variant	NM_013382.7(POMT2):c.305T>C (p.Phe102Ser)	not provided [RCV003327774]	uncertain significance	14	77311977	77311977	Human		name
405002029	CV3082298	deletion	NM_013382.7(POMT2):c.1661del (p.Ser554fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783556]	pathogenic	14	77280456	77280456	Human	1	name
405005343	CV3082739	duplication	NM_013382.7(POMT2):c.1158dup (p.Ile387fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003783838]	pathogenic	14	77291338	77291339	Human	1	name
402513984	CV3089486	duplication	NM_013382.7(POMT2):c.1768dup (p.Tyr590fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003780520]	pathogenic	14	77280037	77280038	Human	1	name
402501448	CV3089730	deletion	NM_013382.7(POMT2):c.1051del (p.Ala351fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003788653]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004573303]	pathogenic	14	77296229	77296229	Human	1	name
405058737	CV3102529	single nucleotide variant	NM_013382.7(POMT2):c.655A>G (p.Arg219Gly)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003798671]	uncertain significance	14	77302836	77302836	Human	1	name
405010458	CV3109159	deletion	NM_013382.7(POMT2):c.1967del (p.Leu656fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003804827]	pathogenic	14	77278794	77278794	Human	1	name
405156759	CV3109368	duplication	NM_013382.7(POMT2):c.2021dup (p.Ser674fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003801891]	pathogenic	14	77278739	77278740	Human	1	name
11621005	CV330795	single nucleotide variant	NM_013382.7(POMT2):c.631G>A (p.Val211Ile)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000343332]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001859882]\|not provided [RCV003129831]	uncertain significance	14	77302860	77302860	Human	2	name
11663214	CV330799	single nucleotide variant	NM_013382.7(POMT2):c.553G>A (p.Gly185Arg)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV000393476]\|not provided [RCV002261048]	conflicting interpretations of pathogenicity\|uncertain significance	14	77302938	77302938	Human	1	name
405668238	CV3369773	single nucleotide variant	NM_013382.7(POMT2):c.364G>A (p.Gly122Arg)	Inborn genetic diseases [RCV004514609]	uncertain significance	14	77306411	77306411	Human	1	name
405668244	CV3369774	single nucleotide variant	NM_013382.7(POMT2):c.641A>G (p.Asn214Ser)	Inborn genetic diseases [RCV004514610]	uncertain significance	14	77302850	77302850	Human	1	name
405871410	CV3399180	duplication	NM_013382.7(POMT2):c.1819dup (p.Leu607fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004574611]	likely pathogenic	14	77279894	77279895	Human	1	name
405871352	CV3399181	single nucleotide variant	NM_013382.7(POMT2):c.436G>T (p.Gly146Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004574612]	likely pathogenic	14	77306339	77306339	Human	1	name
405871305	CV3399182	deletion	NM_013382.7(POMT2):c.50_59del (p.Arg17fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004574613]	likely pathogenic	14	77320623	77320632	Human	1	name
405871163	CV3399185	duplication	NM_013382.7(POMT2):c.53_78dup (p.Arg27fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004574616]	likely pathogenic	14	77320603	77320604	Human	1	name
405871156	CV3399186	deletion	NM_013382.7(POMT2):c.1958del (p.Pro653fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004574617]	likely pathogenic	14	77278803	77278803	Human	1	name
407457581	CV3416195	single nucleotide variant	NM_013382.7(POMT2):c.632T>A (p.Val211Asp)	not provided [RCV004599073]	uncertain significance	14	77302859	77302859	Human		name
408378121	CV3522315	single nucleotide variant	NM_013382.7(POMT2):c.884C>A (p.Thr295Lys)	POMT2-related disorder [RCV004765393]	uncertain significance	14	77299494	77299494	Human		name , trait , alternate_id
596931572	CV3531807	single nucleotide variant	NM_013382.7(POMT2):c.451C>T (p.Leu151Phe)	not provided [RCV004781369]	uncertain significance	14	77304788	77304788	Human		name
596920342	CV3534525	single nucleotide variant	NM_013382.7(POMT2):c.557G>A (p.Cys186Tyr)	not specified [RCV004782086]	uncertain significance	14	77302934	77302934	Human		name
596927281	CV3541031	single nucleotide variant	NM_013382.7(POMT2):c.604T>G (p.Phe202Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004796901]	likely pathogenic	14	77302887	77302887	Human	1	name
596942845	CV3544221	single nucleotide variant	NM_013382.7(POMT2):c.306C>A (p.Phe102Leu)	not specified [RCV004800214]	uncertain significance	14	77311976	77311976	Human		name
597706287	CV3711009	deletion	NM_013382.7(POMT2):c.1623del (p.Leu542fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005009290]	likely pathogenic	14	77283827	77283827	Human	1	name
597865816	CV3868845	single nucleotide variant	NM_013382.7(POMT2):c.716C>T (p.Ala239Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005214965]	uncertain significance	14	77301190	77301190	Human	1	name
597849314	CV3876830	single nucleotide variant	NM_013382.7(POMT2):c.556T>G (p.Cys186Gly)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005228057]	uncertain significance	14	77302935	77302935	Human	1	name
598123555	CV3884784	single nucleotide variant	NM_013382.7(POMT2):c.479A>G (p.Tyr160Cys)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV005410048]\|not specified [RCV005238391]	uncertain significance	14	77304760	77304760	Human	1	name
12858891	CV389159	single nucleotide variant	NM_013382.7(POMT2):c.431T>G (p.Met144Arg)	Abnormal brain morphology [RCV000454201]	likely pathogenic	14	77306344	77306344	Human	1	name
598158915	CV3900905	single nucleotide variant	NM_013382.7(POMT2):c.658C>A (p.Pro220Thr)	Inborn genetic diseases [RCV005260592]	uncertain significance	14	77301248	77301248	Human	1	name
598158928	CV3900908	single nucleotide variant	NM_013382.7(POMT2):c.548A>T (p.Asp183Val)	Inborn genetic diseases [RCV005260595]	uncertain significance	14	77302943	77302943	Human	1	name
598158930	CV3900909	single nucleotide variant	NM_013382.7(POMT2):c.452T>A (p.Leu151His)	Inborn genetic diseases [RCV005260596]	uncertain significance	14	77304787	77304787	Human	1	name
12901693	CV409156	single nucleotide variant	NM_013382.7(POMT2):c.769A>G (p.Thr257Ala)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001313887]\|not provided [RCV000485326]	uncertain significance	14	77301137	77301137	Human	1	name
12907248	CV415405	single nucleotide variant	NM_013382.7(POMT2):c.462G>A (p.Trp154Ter)	not provided [RCV000490212]	pathogenic	14	77304777	77304777	Human		name
13214779	CV429591	single nucleotide variant	NM_013382.7(POMT2):c.871C>G (p.Leu291Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000876435]\|not specified [RCV000501689]	likely benign\|uncertain significance	14	77299507	77299507	Human	1	name
13213388	CV429592	single nucleotide variant	NM_013382.7(POMT2):c.713G>T (p.Gly238Val)	Autosomal recessive limb-girdle muscular dystrophy type 2N [RCV005409660]\|not specified [RCV000499957]	likely pathogenic\|uncertain significance	14	77301193	77301193	Human	1	name
13485140	CV441684	single nucleotide variant	NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001241622]\|not provided [RCV000728228]\|not specified [RCV000518653]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77301100	77301100	Human	1	name
13481761	CV445253	deletion	NM_013382.7(POMT2):c.2206del (p.Gln736fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV005010483]\|not provided [RCV000521594]	likely pathogenic	14	77277423	77277423	Human	1	name
13481363	CV464147	single nucleotide variant	NM_013382.7(POMT2):c.322C>T (p.Pro108Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000528931]	uncertain significance	14	77311960	77311960	Human	1	name
13515195	CV488932	deletion	NM_013382.7(POMT2):c.2197del (p.Gln733fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003767359]\|not provided [RCV000593976]	pathogenic\|uncertain significance	14	77277432	77277432	Human	1	name
13515307	CV489812	single nucleotide variant	NM_013382.7(POMT2):c.795C>G (p.Phe265Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001854020]\|not provided [RCV000594113]	uncertain significance	14	77301111	77301111	Human	1	name
13523667	CV491650	single nucleotide variant	NM_013382.7(POMT2):c.964C>G (p.Arg322Gly)	not provided [RCV000593297]	uncertain significance	14	77298731	77298731	Human		name
13519304	CV492035	single nucleotide variant	NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003767385]\|not provided [RCV000597859]	pathogenic	14	77302852	77302852	Human	1	name
13519559	CV493179	single nucleotide variant	NM_013382.7(POMT2):c.659C>T (p.Pro220Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003767399]\|not provided [RCV000597992]	uncertain significance	14	77301247	77301247	Human	1	name
13519582	CV493224	single nucleotide variant	NM_013382.7(POMT2):c.856C>T (p.Leu286Phe)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV002506437]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001308329]\|not provided [RCV000598003]	uncertain significance	14	77299522	77299522	Human	2	name
13517805	CV493249	single nucleotide variant	NM_013382.7(POMT2):c.700G>A (p.Val234Ile)	Inborn genetic diseases [RCV003258885]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001854096]\|not provided [RCV000596814]	likely benign\|uncertain significance	14	77301206	77301206	Human	2	name
13621279	CV528387	duplication	NM_013382.7(POMT2):c.1293dup (p.Met432fs)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648183]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003472036]	pathogenic\|likely pathogenic	14	77286782	77286783	Human	1	name
13621275	CV528775	single nucleotide variant	NM_013382.7(POMT2):c.648C>A (p.Cys216Ter)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648174]	pathogenic	14	77302843	77302843	Human	1	name
13815777	CV568311	single nucleotide variant	NM_013382.7(POMT2):c.884C>G (p.Thr295Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000691859]	uncertain significance	14	77299494	77299494	Human	1	name
13805746	CV568313	single nucleotide variant	NM_013382.7(POMT2):c.658C>T (p.Pro220Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000700245]	uncertain significance	14	77301248	77301248	Human	1	name
13814329	CV568314	single nucleotide variant	NM_013382.7(POMT2):c.586G>A (p.Asp196Asn)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000704963]\|not provided [RCV003140118]	uncertain significance	14	77302905	77302905	Human	1	name
13816836	CV572943	single nucleotide variant	NM_013382.7(POMT2):c.640A>C (p.Asn214His)	Inborn genetic diseases [RCV004958050]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000706628]\|not provided [RCV001171683]	uncertain significance	14	77302851	77302851	Human	2	name
13833541	CV584776	single nucleotide variant	NM_013382.7(POMT2):c.671C>G (p.Pro224Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001363576]\|not provided [RCV000728831]	uncertain significance	14	77301235	77301235	Human	1	name
13834433	CV585679	single nucleotide variant	NM_013382.7(POMT2):c.542C>A (p.Thr181Asn)	not provided [RCV000729951]	uncertain significance	14	77304697	77304697	Human		name
13835519	CV586779	single nucleotide variant	NM_013382.7(POMT2):c.665C>G (p.Ser222Cys)	not provided [RCV000731348]	uncertain significance	14	77301241	77301241	Human		name
13837823	CV589116	single nucleotide variant	NM_013382.7(POMT2):c.845G>A (p.Arg282His)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000794709]\|not provided [RCV000734351]	uncertain significance	14	77299533	77299533	Human	1	name
126924835	CV608964	single nucleotide variant	NM_013382.7(POMT2):c.406T>C (p.Tyr136His)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001367491]\|not specified [RCV003120583]	uncertain significance	14	77306369	77306369	Human	1	name
14726251	CV642747	single nucleotide variant	NM_013382.7(POMT2):c.685C>T (p.Leu229Phe)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000799133]	conflicting interpretations of pathogenicity\|uncertain significance	14	77301221	77301221	Human	1	name
14725555	CV642749	single nucleotide variant	NM_013382.7(POMT2):c.642C>A (p.Asn214Lys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000798874]\|not provided [RCV003133620]	uncertain significance	14	77302849	77302849	Human	1	name
14730687	CV642750	single nucleotide variant	NM_013382.7(POMT2):c.599T>C (p.Met200Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000817512]	uncertain significance	14	77302892	77302892	Human	1	name
14733129	CV642751	single nucleotide variant	NM_013382.7(POMT2):c.416A>G (p.His139Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000802157]	uncertain significance	14	77306359	77306359	Human	1	name
14739262	CV642752	single nucleotide variant	NM_013382.7(POMT2):c.346C>T (p.Leu116Phe)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000821265]	uncertain significance	14	77306429	77306429	Human	1	name
14737690	CV642753	single nucleotide variant	NM_013382.7(POMT2):c.344G>C (p.Gly115Ala)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000820569]	uncertain significance	14	77306431	77306431	Human	1	name
14710249	CV667412	duplication	NM_013382.7(POMT2):c.1007-331_1007-329dup	not provided [RCV000844141]	benign	14	77296601	77296602	Human		name
14710253	CV667733	duplication	NM_013382.7(POMT2):c.1654-248_1654-242dup	not provided [RCV000844148]	benign	14	77280704	77280705	Human		name
14746842	CV672092	single nucleotide variant	NM_013382.7(POMT2):c.936C>G (p.Asp312Glu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000845091]	not provided	14	77298759	77298759	Human		name
21074570	CV797076	single nucleotide variant	NM_013382.7(POMT2):c.661T>A (p.Phe221Ile)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001037272]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV004776299]\|not provided [RCV000995222]	likely pathogenic\|uncertain significance	14	77301245	77301245	Human	1	name
25319775	CV805803	duplication	NM_013382.7(POMT2):c.1712dup (p.Ile572fs)	Inborn genetic diseases [RCV002551722]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003473558]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003769416]\|POMT2-related d ... (more) isorder [RCV003411949]\|not provided [RCV001009061]	pathogenic\|likely pathogenic	14	77280404	77280405	Human	4	name , alternate_id
26902170	CV841849	single nucleotide variant	NM_013382.7(POMT2):c.796G>A (p.Gly266Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001035890]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV003473613]\|not specified [RCV003230622]	likely pathogenic\|uncertain significance	14	77301110	77301110	Human	1	name
26915225	CV841850	single nucleotide variant	NM_013382.7(POMT2):c.767A>T (p.Asn256Ile)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001055546]	uncertain significance	14	77301139	77301139	Human	1	name
26904371	CV841851	single nucleotide variant	NM_013382.7(POMT2):c.763C>G (p.Leu255Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001050792]	uncertain significance	14	77301143	77301143	Human	1	name
26904369	CV841852	single nucleotide variant	NM_013382.7(POMT2):c.758T>G (p.Val253Gly)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001050791]	uncertain significance	14	77301148	77301148	Human	1	name
26915575	CV841854	single nucleotide variant	NM_013382.7(POMT2):c.424A>G (p.Met142Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001055804]	uncertain significance	14	77306351	77306351	Human	1	name
38487975	CV927186	single nucleotide variant	NM_013382.7(POMT2):c.329G>A (p.Gly110Glu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001220968]	uncertain significance	14	77311953	77311953	Human	1	name
38472034	CV936751	single nucleotide variant	NM_013382.7(POMT2):c.836T>A (p.Leu279Gln)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001213938]	uncertain significance	14	77299542	77299542	Human	1	name
38465020	CV936752	single nucleotide variant	NM_013382.7(POMT2):c.827G>A (p.Gly276Glu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001201650]	uncertain significance	14	77299551	77299551	Human	1	name
38489108	CV936754	single nucleotide variant	NM_013382.7(POMT2):c.521T>C (p.Leu174Pro)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001210056]	uncertain significance	14	77304718	77304718	Human	1	name
38462621	CV948705	single nucleotide variant	NM_013382.7(POMT2):c.886G>A (p.Ala296Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001229739]	uncertain significance	14	77299492	77299492	Human	1	name
38495255	CV957321	single nucleotide variant	NM_013382.7(POMT2):c.925G>A (p.Gly309Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001241828]	uncertain significance	14	77298770	77298770	Human	1	name
38458603	CV957322	single nucleotide variant	NM_013382.7(POMT2):c.745A>G (p.Ile249Val)	Inborn genetic diseases [RCV003263899]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001246376]	uncertain significance	14	77301161	77301161	Human	2	name
38494712	CV957323	single nucleotide variant	NM_013382.7(POMT2):c.548A>G (p.Asp183Gly)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001241481]	uncertain significance	14	77302943	77302943	Human	1	name
41408180	CV980951	single nucleotide variant	NM_013382.7(POMT2):c.311A>T (p.Asp104Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001283772]	likely pathogenic	14	77311971	77311971	Human	1	name
126759340	CV996025	single nucleotide variant	NM_013382.7(POMT2):c.389A>G (p.Gln130Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001308990]	uncertain significance	14	77306386	77306386	Human	1	name
126760094	CV1011254	single nucleotide variant	NM_013382.7(POMT2):c.1127A>G (p.Tyr376Cys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001318242]	uncertain significance	14	77291370	77291370	Human	1	name
126726139	CV1017842	single nucleotide variant	NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [RCV005394950]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001331801]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RC ... (more) V001871825]\|not provided [RCV003327506]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	77278785	77278785	Human	2	name
126772157	CV1031756	single nucleotide variant	NM_013382.7(POMT2):c.2171C>T (p.Ala724Val)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001345459]	uncertain significance	14	77277458	77277458	Human	1	name
11639636	CV266480	single nucleotide variant	NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001084974]\|POMT2-related disorder [RCV003967712]\|not provided [RCV000547725]\|not specified [RCV000324625]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	14	77278484	77278484	Human	3	name , alternate_id
11638875	CV266624	single nucleotide variant	NM_013382.7(POMT2):c.1568A>C (p.Asn523Thr)	not provided [RCV000311553]	uncertain significance	14	77284958	77284958	Human		name
11642072	CV267346	single nucleotide variant	NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000812093]\|not provided [RCV000368647]	uncertain significance	14	77280074	77280074	Human	1	name
11638502	CV268226	single nucleotide variant	NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001064516]\|not provided [RCV000304861]	uncertain significance	14	77278455	77278455	Human	1	name
11638242	CV268293	single nucleotide variant	NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000692456]\|not provided [RCV000299846]	uncertain significance	14	77280406	77280406	Human	1	name
11636002	CV269207	single nucleotide variant	NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln)	Inborn genetic diseases [RCV002519164]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000692914]\|not provided [RCV000260226]	likely benign\|uncertain significance	14	77279843	77279843	Human	2	name
11642554	CV269461	single nucleotide variant	NM_013382.7(POMT2):c.1033G>C (p.Val345Leu)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001371825]\|not provided [RCV000377655]	uncertain significance	14	77296247	77296247	Human	1	name
11641416	CV271049	single nucleotide variant	NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002519265]\|not provided [RCV000355610]	uncertain significance	14	77278458	77278458	Human	1	name
11639802	CV272731	single nucleotide variant	NM_013382.7(POMT2):c.1558G>A (p.Asp520Asn)	not provided [RCV000327203]	uncertain significance	14	77284968	77284968	Human		name
11643830	CV273290	single nucleotide variant	NM_013382.7(POMT2):c.1306C>T (p.His436Tyr)	not provided [RCV000401359]	uncertain significance	14	77286770	77286770	Human		name
11641549	CV273831	single nucleotide variant	NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001211087]\|not provided [RCV000358693]	uncertain significance	14	77296234	77296234	Human	1	name
11640522	CV273917	single nucleotide variant	NM_013382.7(POMT2):c.1192G>C (p.Asp398His)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV002519325]\|not provided [RCV000340338]	uncertain significance	14	77288823	77288823	Human	1	name
11641588	CV274023	single nucleotide variant	NM_013382.7(POMT2):c.1006C>T (p.His336Tyr)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001850456]\|not provided [RCV000359348]	uncertain significance	14	77298689	77298689	Human	1	name
11641799	CV274522	single nucleotide variant	NM_013382.7(POMT2):c.1835G>T (p.Gly612Val)	not provided [RCV000363399]	uncertain significance	14	77279879	77279879	Human		name
126733257	CV996022	single nucleotide variant	NM_013382.7(POMT2):c.2164C>T (p.Pro722Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001294705]	uncertain significance	14	77277465	77277465	Human	1	name
126725768	CV996024	single nucleotide variant	NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV001302675]\|not provided [RCV003132387]	uncertain significance	14	77278848	77278848	Human	1	name
8557283	CV18260	single nucleotide variant	NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	Muscular dystrophy [RCV000193219]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000003377]\|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000648175]\|Muscular dystrophy-dystroglycanopathy (congenital with int ... (more) ellectual disability), type B2 [RCV000003376]\|POMT2-related disorder [RCV003398429]\|not provided [RCV000081569]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	14	77278764	77278764	Human	5	alternate_id
8557293	CV18270	single nucleotide variant	NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [RCV000003387]\|Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [RCV000030875]\|POMT2-related disorder [RCV003415634]\|not provided [RC ... (more) V001570621]	pathogenic\|likely pathogenic	14	77296223	77296223	Human	2	alternate_id
408376671	CV3515654	single nucleotide variant	NM_013382.7(POMT2):c.1682A>G (p.Asn561Ser)	POMT2-related disorder [RCV004749388]	uncertain significance	14	77280435	77280435	Human		trait , alternate_id
153349114	CV1693634	indel	NM_013382.7(POMT2):c.1184-4_1184-3delinsTT	not provided [RCV002275506]	uncertain significance	14	77288834	77288835	Human		name
10406433	CV208124	indel	NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA	Muscular dystrophy [RCV000192561]	pathogenic	14	77283874	77283878	Human		name

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