Gmppa Variant Search Result - Rat Genome Database

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153 records found for search term Gmppa

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150536704	CV1296239	single nucleotide variant	NM_013335.4(GMPPA):c.900+4A>G	not provided [RCV001763529]	uncertain significance	2	219505765	219505765	Human		name
156269870	CV2004059	single nucleotide variant	NM_013335.4(GMPPA):c.490-6C>T	Alacrima, achalasia, and intellectual disability syndrome [RCV002646495]	likely benign	2	219504077	219504077	Human	1	name
156053314	CV2101841	single nucleotide variant	NM_013335.4(GMPPA):c.621-9C>T	Alacrima, achalasia, and intellectual disability syndrome [RCV002886236]	likely benign	2	219505219	219505219	Human	1	name
156261386	CV2216449	single nucleotide variant	NM_013335.4(GMPPA):c.489+3G>T	Inborn genetic diseases [RCV002703046]	uncertain significance	2	219502444	219502444	Human	1	name
156291538	CV2246429	single nucleotide variant	NM_013335.4(GMPPA):c.489+4A>T	Inborn genetic diseases [RCV002807380]	uncertain significance	2	219502445	219502445	Human	1	name
405869611	CV2832101	single nucleotide variant	NM_013335.4(GMPPA):c.429+1G>A	not provided [RCV004573112]	pathogenic	2	219502038	219502038	Human		name
401961505	CV2843848	single nucleotide variant	NM_013335.4(GMPPA):c.138+1G>T	not provided [RCV003481687]	likely pathogenic	2	219500219	219500219	Human		name
405087224	CV2879873	single nucleotide variant	NM_013335.4(GMPPA):c.41-16C>T	Alacrima, achalasia, and intellectual disability syndrome [RCV003582537]	likely benign	2	219500105	219500105	Human	1	name
12841284	CV366389	single nucleotide variant	NM_013335.4(GMPPA):c.40+13G>A	Alacrima, achalasia, and intellectual disability syndrome [RCV002063508]\|not specified [RCV000432290]	likely benign	2	219500028	219500028	Human	1	name
12838701	CV366449	single nucleotide variant	NM_013335.4(GMPPA):c.138+8C>T	not specified [RCV000427433]	likely benign	2	219500226	219500226	Human		name
12847292	CV367027	single nucleotide variant	NM_013335.4(GMPPA):c.40+15G>A	Alacrima, achalasia, and intellectual disability syndrome [RCV002521612]\|not provided [RCV000515084]\|not specified [RCV000443226]	benign\|likely benign	2	219500030	219500030	Human	1	name
597944291	CV3776557	single nucleotide variant	NM_013335.4(GMPPA):c.243-4A>G	Alacrima, achalasia, and intellectual disability syndrome [RCV005119413]	likely benign	2	219501847	219501847	Human	1	name
13463090	CV439637	single nucleotide variant	NM_013335.4(GMPPA):c.853+1G>A	Alacrima, achalasia, and intellectual disability syndrome [RCV000515501]	pathogenic	2	219505556	219505556	Human	1	name
14744283	CV658836	single nucleotide variant	NM_013335.4(GMPPA):c.40+20G>A	Alacrima, achalasia, and intellectual disability syndrome [RCV003741221]\|not provided [RCV000842649]	likely benign	2	219500035	219500035	Human	1	name
150425761	CV1183112	single nucleotide variant	NM_013335.4(GMPPA):c.994-70A>G	not provided [RCV001558440]	likely benign	2	219506184	219506184	Human		name
150448490	CV1202041	single nucleotide variant	NM_013335.4(GMPPA):c.430-78C>T	not provided [RCV001584911]	likely benign	2	219502304	219502304	Human		name
150476632	CV1279295	single nucleotide variant	NM_013335.4(GMPPA):c.620+65G>A	not provided [RCV001714012]	benign	2	219504278	219504278	Human		name
150548405	CV1316309	single nucleotide variant	NM_013335.4(GMPPA):c.430-36A>G	not provided [RCV001786111]	likely benign	2	219502346	219502346	Human		name
151234592	CV1320355	single nucleotide variant	NM_013335.4(GMPPA):c.242+25G>C	not provided [RCV001799979]	likely benign	2	219501604	219501604	Human		name
152063539	CV1535629	single nucleotide variant	NM_013335.4(GMPPA):c.490-16C>A	Alacrima, achalasia, and intellectual disability syndrome [RCV002168305]	likely benign	2	219504067	219504067	Human	1	name
152146973	CV1545876	single nucleotide variant	NM_013335.4(GMPPA):c.242+19G>A	Alacrima, achalasia, and intellectual disability syndrome [RCV002157582]	benign	2	219501598	219501598	Human	1	name
152146989	CV1635568	single nucleotide variant	NM_013335.4(GMPPA):c.756-18C>A	Alacrima, achalasia, and intellectual disability syndrome [RCV002201382]	likely benign	2	219505440	219505440	Human	1	name
152980179	CV1675872	single nucleotide variant	NM_013335.4(GMPPA):c.854-23C>T	not provided [RCV002244463]	likely benign	2	219505692	219505692	Human		name
405088180	CV2887794	single nucleotide variant	NM_013335.4(GMPPA):c.490-18A>G	Alacrima, achalasia, and intellectual disability syndrome [RCV003582656]	likely benign	2	219504065	219504065	Human	1	name
405052920	CV3064260	single nucleotide variant	NM_013335.4(GMPPA):c.243-17C>T	Alacrima, achalasia, and intellectual disability syndrome [RCV003740793]	likely benign	2	219501834	219501834	Human	1	name
12843990	CV366398	single nucleotide variant	NM_013335.4(GMPPA):c.756-10C>T	Alacrima, achalasia, and intellectual disability syndrome [RCV000970732]\|GMPPA-related disorder [RCV003959917]\|not provided [RCV001697794]	likely benign	2	219505448	219505448	Human	1	name , trait , alternate_id
597938301	CV3775061	single nucleotide variant	NM_013335.4(GMPPA):c.854-20G>C	Alacrima, achalasia, and intellectual disability syndrome [RCV005117887]	likely benign	2	219505695	219505695	Human	1	name
597955684	CV3841917	single nucleotide variant	NM_013335.4(GMPPA):c.755+17C>T	Alacrima, achalasia, and intellectual disability syndrome [RCV005191414]	likely benign	2	219505379	219505379	Human	1	name
13532436	CV499946	single nucleotide variant	NM_013335.4(GMPPA):c.901-10C>T	not specified [RCV000601358]	likely benign	2	219505970	219505970	Human		name
13526824	CV500024	single nucleotide variant	NM_013335.4(GMPPA):c.489+16G>A	Alacrima, achalasia, and intellectual disability syndrome [RCV002062944]\|not specified [RCV000604660]	benign\|likely benign	2	219502457	219502457	Human	1	name
13532841	CV500029	single nucleotide variant	NM_013335.4(GMPPA):c.853+18A>G	not specified [RCV000601489]	likely benign	2	219505573	219505573	Human		name
150483380	CV1210123	single nucleotide variant	NM_013335.4(GMPPA):c.429+114C>T	not provided [RCV001590822]	likely benign	2	219502151	219502151	Human		name
150514286	CV1228145	single nucleotide variant	NM_013335.4(GMPPA):c.620+285A>G	not provided [RCV001638423]	benign	2	219504498	219504498	Human		name
150440930	CV1246656	single nucleotide variant	NM_013335.4(GMPPA):c.430-151G>C	not provided [RCV001666309]	benign	2	219502231	219502231	Human		name
150499623	CV1254388	single nucleotide variant	NM_013335.4(GMPPA):c.621-196C>T	not provided [RCV001676562]	benign	2	219505032	219505032	Human		name
150503072	CV1257705	single nucleotide variant	NM_013335.4(GMPPA):c.901-103G>T	not provided [RCV001677393]	benign	2	219505877	219505877	Human		name
150450640	CV1275140	single nucleotide variant	NM_013335.4(GMPPA):c.1162+37T>A	Alacrima, achalasia, and intellectual disability syndrome [RCV001702197]\|not provided [RCV001713692]	benign	2	219506459	219506459	Human	1	name
12839099	CV367023	single nucleotide variant	NM_013335.4(GMPPA):c.-21+298T>C	not provided [RCV001712364]	benign\|likely benign	2	219499236	219499236	Human		name
12845602	CV367070	single nucleotide variant	NM_013335.4(GMPPA):c.1162+18C>T	Alacrima, achalasia, and intellectual disability syndrome [RCV001509933]\|not provided [RCV004708829]\|not specified [RCV000440121]	benign	2	219506440	219506440	Human	1	name
597906020	CV3853213	single nucleotide variant	NM_013335.4(GMPPA):c.1162+17G>T	Alacrima, achalasia, and intellectual disability syndrome [RCV005202870]	likely benign	2	219506439	219506439	Human	1	name
13538029	CV500023	single nucleotide variant	NM_013335.4(GMPPA):c.-21+303T>C	not specified [RCV000611241]	likely benign	2	219499241	219499241	Human		name
151748822	CV1430242	single nucleotide variant	NM_013335.4(GMPPA):c.12G>A (p.Ala4=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002006639]	likely benign\|uncertain significance	2	219499987	219499987	Human	1	name
15098308	CV774681	deletion	NM_013335.4(GMPPA):c.138+9_138+10del	Alacrima, achalasia, and intellectual disability syndrome [RCV001422969]	likely benign	2	219500227	219500228	Human	1	name
15140610	CV747352	single nucleotide variant	NM_013335.4(GMPPA):c.66T>C (p.Phe22=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000921703]	likely benign	2	219500146	219500146	Human	1	name
155949114	CV1921821	single nucleotide variant	NM_013335.4(GMPPA):c.117C>T (p.His39=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002616120]	likely benign	2	219500197	219500197	Human	1	name
12848157	CV367036	single nucleotide variant	NM_013335.4(GMPPA):c.213C>T (p.Ala71=)	Alacrima, achalasia, and intellectual disability syndrome [RCV001509932]\|not provided [RCV004708848]\|not specified [RCV000444771]	benign\|likely benign	2	219501550	219501550	Human	1	name
127293233	CV1112339	single nucleotide variant	NM_013335.4(GMPPA):c.516C>T (p.Ser172=)	Alacrima, achalasia, and intellectual disability syndrome [RCV001459177]	likely benign	2	219504109	219504109	Human	1	name
127296495	CV1112340	single nucleotide variant	NM_013335.4(GMPPA):c.864C>T (p.Tyr288=)	Alacrima, achalasia, and intellectual disability syndrome [RCV001477376]	likely benign	2	219505725	219505725	Human	1	name
150471995	CV1217111	deletion	NM_013335.4(GMPPA):c.-20-215_-20-209del	not provided [RCV001615406]	benign	2	219499741	219499747	Human		name
152089217	CV1550331	single nucleotide variant	NM_013335.4(GMPPA):c.486C>T (p.His162=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002131832]\|GMPPA-related disorder [RCV003971083]	likely benign	2	219502438	219502438	Human	1	name , trait , alternate_id
152082037	CV1558687	single nucleotide variant	NM_013335.4(GMPPA):c.336G>A (p.Val112=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002149439]	likely benign	2	219501944	219501944	Human	1	name
152133301	CV1585223	single nucleotide variant	NM_013335.4(GMPPA):c.783C>T (p.Tyr261=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002083163]	likely benign	2	219505485	219505485	Human	1	name
156350302	CV2122111	single nucleotide variant	NM_013335.4(GMPPA):c.630A>T (p.Ser210=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002966247]	likely benign	2	219505237	219505237	Human	1	name
156106252	CV2370878	single nucleotide variant	NM_013335.4(GMPPA):c.46C>T (p.Arg16Cys)	Alacrima, achalasia, and intellectual disability syndrome [RCV005099053]\|Inborn genetic diseases [RCV002662292]	uncertain significance	2	219500126	219500126	Human	2	name
401930154	CV2818965	single nucleotide variant	NM_013335.4(GMPPA):c.969C>T (p.Ile323=)	not provided [RCV003440189]	likely benign	2	219506048	219506048	Human		name
405080753	CV2932976	deletion	NM_013335.4(GMPPA):c.118del (p.His40fs)	Alacrima, achalasia, and intellectual disability syndrome [RCV003582016]	pathogenic	2	219500197	219500197	Human	1	name
405029988	CV3129943	single nucleotide variant	NM_013335.4(GMPPA):c.561T>C (p.Ser187=)	Alacrima, achalasia, and intellectual disability syndrome [RCV003830542]	likely benign	2	219504154	219504154	Human	1	name
12847604	CV366222	single nucleotide variant	NM_013335.4(GMPPA):c.750C>T (p.Ser250=)	Alacrima, achalasia, and intellectual disability syndrome [RCV001423000]\|not provided [RCV000443778]	likely benign	2	219505357	219505357	Human	1	name
12834652	CV366397	single nucleotide variant	NM_013335.4(GMPPA):c.345T>C (p.Ala115=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000906254]\|not specified [RCV000420319]	likely benign	2	219501953	219501953	Human	1	name
12834940	CV366399	single nucleotide variant	NM_013335.4(GMPPA):c.858T>C (p.Asn286=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000881232]\|not specified [RCV000420812]	likely benign	2	219505719	219505719	Human	1	name
12845284	CV366400	single nucleotide variant	NM_013335.4(GMPPA):c.945G>A (p.Glu315=)	Alacrima, achalasia, and intellectual disability syndrome [RCV001510360]\|not provided [RCV004709987]\|not specified [RCV000439540]	benign	2	219506024	219506024	Human	1	name
12848401	CV366452	single nucleotide variant	NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000954080]\|GMPPA-related disorder [RCV003912650]\|not provided [RCV001531347]	benign\|likely benign	2	219505470	219505470	Human	1	name , trait , alternate_id
12843287	CV367038	single nucleotide variant	NM_013335.4(GMPPA):c.300C>T (p.Asp100=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002506049]\|not provided [RCV000918695]\|not specified [RCV000435964]	likely benign	2	219501908	219501908	Human	1	name
12843206	CV367039	single nucleotide variant	NM_013335.4(GMPPA):c.441G>A (p.Thr147=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000974790]\|not provided [RCV003437171]\|not specified [RCV000435818]	benign\|likely benign	2	219502393	219502393	Human	1	name
12845350	CV367059	single nucleotide variant	NM_013335.4(GMPPA):c.816G>A (p.Arg272=)	not specified [RCV000439654]	likely benign	2	219505518	219505518	Human		name
597683532	CV3678143	single nucleotide variant	NM_013335.4(GMPPA):c.55C>T (p.Pro19Ser)	Inborn genetic diseases [RCV004983738]	uncertain significance	2	219500135	219500135	Human	1	name
597884130	CV3799563	single nucleotide variant	NM_013335.4(GMPPA):c.828C>T (p.His276=)	Alacrima, achalasia, and intellectual disability syndrome [RCV005150230]	likely benign	2	219505530	219505530	Human	1	name
13540898	CV499936	single nucleotide variant	NM_013335.4(GMPPA):c.366C>G (p.Pro122=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000891926]\|not provided [RCV004711222]\|not specified [RCV000615357]	benign\|likely benign	2	219501974	219501974	Human	1	name
13526272	CV499937	single nucleotide variant	NM_013335.4(GMPPA):c.873G>A (p.Pro291=)	not specified [RCV000603919]	likely benign	2	219505734	219505734	Human		name
13536066	CV499948	single nucleotide variant	NM_013335.4(GMPPA):c.921C>T (p.Ile307=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002529445]\|not provided [RCV003431138]\|not specified [RCV000608464]	likely benign	2	219506000	219506000	Human	1	name
13527466	CV500031	single nucleotide variant	NM_013335.4(GMPPA):c.876C>T (p.Thr292=)	Alacrima, achalasia, and intellectual disability syndrome [RCV002498930]\|not specified [RCV000599768]	likely benign	2	219505737	219505737	Human	1	name
14743706	CV655423	single nucleotide variant	NM_013335.4(GMPPA):c.894G>A (p.Ser298=)	not provided [RCV000842245]	likely benign	2	219505755	219505755	Human		name
15106679	CV708067	single nucleotide variant	NM_013335.4(GMPPA):c.571T>C (p.Leu191=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000960128]	likely benign	2	219504164	219504164	Human	1	name
15155166	CV747353	single nucleotide variant	NM_013335.4(GMPPA):c.447C>T (p.Ser149=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000924411]	likely benign	2	219502399	219502399	Human	1	name
15198599	CV747354	single nucleotide variant	NM_013335.4(GMPPA):c.954G>A (p.Arg318=)	not provided [RCV000912306]	likely benign	2	219506033	219506033	Human		name
15192010	CV762966	single nucleotide variant	NM_013335.4(GMPPA):c.495G>A (p.Leu165=)	Alacrima, achalasia, and intellectual disability syndrome [RCV000932963]\|not provided [RCV003334029]	benign\|likely benign	2	219504088	219504088	Human	1	name
8573628	CV94274	deletion	NM_013335.4(GMPPA):c.210del (p.Ala71fs)	Alacrima, achalasia, and intellectual disability syndrome [RCV000074377]\|Chromosomal instability with tissue-specific radiosensitivity [RCV004799180]\|not provided [RCV003317075]	pathogenic	2	219501546	219501546	Human	2	name
151889834	CV1498432	single nucleotide variant	NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys)	Alacrima, achalasia, and intellectual disability syndrome [RCV002001377]	uncertain significance	2	219501888	219501888	Human	1	name
151729845	CV1506003	single nucleotide variant	NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys)	Alacrima, achalasia, and intellectual disability syndrome [RCV001892129]	uncertain significance	2	219501858	219501858	Human	1	name
156000853	CV1872839	single nucleotide variant	NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)	Alacrima, achalasia, and intellectual disability syndrome [RCV003076577]	likely benign	2	219506349	219506349	Human	1	name
156441586	CV1940910	single nucleotide variant	NM_013335.4(GMPPA):c.1173C>T (p.Val391=)	Alacrima, achalasia, and intellectual disability syndrome [RCV003111914]	likely benign	2	219506708	219506708	Human	1	name
156133305	CV2073109	single nucleotide variant	NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)	Alacrima, achalasia, and intellectual disability syndrome [RCV002825751]	uncertain significance	2	219501530	219501530	Human	1	name
156066127	CV2240344	single nucleotide variant	NM_013335.4(GMPPA):c.231C>A (p.Asn77Lys)	Inborn genetic diseases [RCV002782899]	uncertain significance	2	219501568	219501568	Human	1	name
329360806	CV2463004	single nucleotide variant	NM_013335.4(GMPPA):c.133G>A (p.Ala45Thr)	Inborn genetic diseases [RCV003205196]	uncertain significance	2	219500213	219500213	Human	1	name
405093440	CV3134643	single nucleotide variant	NM_013335.4(GMPPA):c.1185C>T (p.Ala395=)	Alacrima, achalasia, and intellectual disability syndrome [RCV003834989]	likely benign	2	219506720	219506720	Human	1	name
405767807	CV3262000	single nucleotide variant	NM_013335.4(GMPPA):c.201G>T (p.Gln67His)	Inborn genetic diseases [RCV004395389]	uncertain significance	2	219501538	219501538	Human	1	name
407519920	CV3443530	single nucleotide variant	NM_013335.4(GMPPA):c.224A>C (p.Glu75Ala)	Inborn genetic diseases [RCV004629845]	uncertain significance	2	219501561	219501561	Human	1	name
407519922	CV3443532	single nucleotide variant	NM_013335.4(GMPPA):c.176A>G (p.Tyr59Cys)	Inborn genetic diseases [RCV004629846]	uncertain significance	2	219501513	219501513	Human	1	name
12846322	CV366458	single nucleotide variant	NM_013335.4(GMPPA):c.1206G>T (p.Ser402=)	not specified [RCV000441428]	likely benign	2	219506741	219506741	Human		name
12841385	CV367034	single nucleotide variant	NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)	Alacrima, achalasia, and intellectual disability syndrome [RCV000884243]\|GMPPA-related disorder [RCV003932663]\|not provided [RCV001721349]\|not specified [RCV000432476]	benign\|likely benign	2	219501527	219501527	Human	1	name , trait , alternate_id
12837274	CV367066	single nucleotide variant	NM_013335.4(GMPPA):c.1053C>G (p.Ala351=)	Alacrima, achalasia, and intellectual disability syndrome [RCV001510961]\|not provided [RCV004709983]\|not specified [RCV000424882]	benign	2	219506313	219506313	Human	1	name
598232678	CV3974317	single nucleotide variant	NM_013335.4(GMPPA):c.275G>A (p.Gly92Glu)	Inborn genetic diseases [RCV005342635]	uncertain significance	2	219501883	219501883	Human	1	name
13818169	CV560992	single nucleotide variant	NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)	Alacrima, achalasia, and intellectual disability syndrome [RCV000707528]\|Inborn genetic diseases [RCV003165934]	uncertain significance	2	219500188	219500188	Human	2	name
15153490	CV708066	single nucleotide variant	NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr)	Alacrima, achalasia, and intellectual disability syndrome [RCV000968553]\|not provided [RCV003480893]	likely benign\|uncertain significance	2	219501551	219501551	Human	1	name
15201812	CV747355	single nucleotide variant	NM_013335.4(GMPPA):c.1206G>A (p.Ser402=)	not provided [RCV000913251]	likely benign	2	219506741	219506741	Human		name
8573625	CV94271	single nucleotide variant	NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)	Alacrima, achalasia, and intellectual disability syndrome [RCV000074374]	pathogenic	2	219501903	219501903	Human	1	name
126774419	CV1024169	single nucleotide variant	NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)	Alacrima, achalasia, and intellectual disability syndrome [RCV001347208]	uncertain significance	2	219502418	219502418	Human	1	name
150546479	CV1296238	single nucleotide variant	NM_013335.4(GMPPA):c.953G>A (p.Arg318Gln)	not provided [RCV001763528]	uncertain significance	2	219506032	219506032	Human		name
150542371	CV1314754	single nucleotide variant	NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)	Alacrima, achalasia, and intellectual disability syndrome [RCV001782205]	likely pathogenic	2	219501990	219501990	Human	1	name
151803507	CV1375517	single nucleotide variant	NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe)	Alacrima, achalasia, and intellectual disability syndrome [RCV001953146]	uncertain significance	2	219504128	219504128	Human	1	name
151724134	CV1459220	single nucleotide variant	NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr)	Alacrima, achalasia, and intellectual disability syndrome [RCV002020568]	uncertain significance	2	219505738	219505738	Human	1	name
152980705	CV1676068	single nucleotide variant	NM_013335.4(GMPPA):c.874A>C (p.Thr292Pro)	not provided [RCV002245137]	uncertain significance	2	219505735	219505735	Human		name
156215681	CV1910582	single nucleotide variant	NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)	Alacrima, achalasia, and intellectual disability syndrome [RCV002596252]	uncertain significance	2	219505733	219505733	Human	1	name
156072690	CV1959437	single nucleotide variant	NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)	Alacrima, achalasia, and intellectual disability syndrome [RCV002569652]	uncertain significance	2	219502419	219502419	Human	1	name
156176404	CV2331166	single nucleotide variant	NM_013335.4(GMPPA):c.893C>T (p.Ser298Leu)	Inborn genetic diseases [RCV002956142]	uncertain significance	2	219505754	219505754	Human	1	name
243052376	CV2412685	single nucleotide variant	NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)	Alacrima, achalasia, and intellectual disability syndrome [RCV003131035]	uncertain significance	2	219505984	219505984	Human	1	name
243052379	CV2412686	single nucleotide variant	NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)	Alacrima, achalasia, and intellectual disability syndrome [RCV003131036]	uncertain significance	2	219502008	219502008	Human	1	name
329391608	CV2448752	single nucleotide variant	NM_013335.4(GMPPA):c.334G>A (p.Val112Met)	Inborn genetic diseases [RCV003192232]	uncertain significance	2	219501942	219501942	Human	1	name
11639644	CV271315	single nucleotide variant	NM_013335.4(GMPPA):c.486C>G (p.His162Gln)	Alacrima, achalasia, and intellectual disability syndrome [RCV001086607]\|GMPPA-related disorder [RCV003957471]\|not provided [RCV000323560]\|not specified [RCV003317181]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	219502438	219502438	Human	1	name , trait , alternate_id
401784415	CV2730340	single nucleotide variant	NM_013335.4(GMPPA):c.386C>A (p.Ala129Asp)	Inborn genetic diseases [RCV003310568]	uncertain significance	2	219501994	219501994	Human	1	name
401921121	CV2802220	single nucleotide variant	NM_013335.4(GMPPA):c.595C>T (p.Gln199Ter)	GMPPA-related disorder [RCV003402824]	likely pathogenic	2	219504188	219504188	Human		name , trait , alternate_id
401934836	CV2802877	single nucleotide variant	NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)	Alacrima, achalasia, and intellectual disability syndrome [RCV003741348]\|GMPPA-related disorder [RCV003412179]\|not provided [RCV004780543]	pathogenic\|likely pathogenic	2	219505492	219505492	Human	1	name , trait , alternate_id
405767813	CV3262001	single nucleotide variant	NM_013335.4(GMPPA):c.392G>A (p.Arg131Gln)	Inborn genetic diseases [RCV004395390]	uncertain significance	2	219502000	219502000	Human	1	name
405767818	CV3262002	single nucleotide variant	NM_013335.4(GMPPA):c.401G>A (p.Arg134His)	Inborn genetic diseases [RCV004395391]	uncertain significance	2	219502009	219502009	Human	1	name
405767824	CV3262003	single nucleotide variant	NM_013335.4(GMPPA):c.479A>G (p.Gln160Arg)	Inborn genetic diseases [RCV004395392]	uncertain significance	2	219502431	219502431	Human	1	name
405767830	CV3262004	single nucleotide variant	NM_013335.4(GMPPA):c.598C>T (p.Arg200Cys)	Inborn genetic diseases [RCV004395393]	uncertain significance	2	219504191	219504191	Human	1	name
405767836	CV3262005	single nucleotide variant	NM_013335.4(GMPPA):c.941G>T (p.Gly314Val)	Inborn genetic diseases [RCV004395394]	uncertain significance	2	219506020	219506020	Human	1	name
405767842	CV3262006	single nucleotide variant	NM_013335.4(GMPPA):c.959G>A (p.Arg320Gln)	Inborn genetic diseases [RCV004395395]	uncertain significance	2	219506038	219506038	Human	1	name
407519917	CV3443528	single nucleotide variant	NM_013335.4(GMPPA):c.807C>G (p.His269Gln)	Inborn genetic diseases [RCV004629843]	uncertain significance	2	219505509	219505509	Human	1	name
407504004	CV3443531	single nucleotide variant	NM_013335.4(GMPPA):c.996G>C (p.Glu332Asp)	Inborn genetic diseases [RCV004623926]	uncertain significance	2	219506256	219506256	Human	1	name
597680364	CV3678144	single nucleotide variant	NM_013335.4(GMPPA):c.584G>A (p.Arg195Gln)	Inborn genetic diseases [RCV004982641]	uncertain significance	2	219504177	219504177	Human	1	name
597894562	CV3785608	single nucleotide variant	NM_013335.4(GMPPA):c.922G>A (p.Gly308Arg)	Alacrima, achalasia, and intellectual disability syndrome [RCV005126194]	uncertain significance	2	219506001	219506001	Human	1	name
597931627	CV3789291	single nucleotide variant	NM_013335.4(GMPPA):c.970G>C (p.Val324Leu)	Alacrima, achalasia, and intellectual disability syndrome [RCV005131572]	uncertain significance	2	219506049	219506049	Human	1	name
597928271	CV3816113	single nucleotide variant	NM_013335.4(GMPPA):c.952C>T (p.Arg318Trp)	Alacrima, achalasia, and intellectual disability syndrome [RCV005156694]	uncertain significance	2	219506031	219506031	Human	1	name
598264021	CV3974314	single nucleotide variant	NM_013335.4(GMPPA):c.343G>A (p.Ala115Thr)	Inborn genetic diseases [RCV005348739]	uncertain significance	2	219501951	219501951	Human	1	name
598232674	CV3974315	single nucleotide variant	NM_013335.4(GMPPA):c.692C>G (p.Ala231Gly)	Inborn genetic diseases [RCV005342634]	uncertain significance	2	219505299	219505299	Human	1	name
598264024	CV3974316	single nucleotide variant	NM_013335.4(GMPPA):c.683C>T (p.Ser228Leu)	Inborn genetic diseases [RCV005348740]	uncertain significance	2	219505290	219505290	Human	1	name
13492737	CV450680	single nucleotide variant	NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)	Alacrima, achalasia, and intellectual disability syndrome [RCV000535177]\|Inborn genetic diseases [RCV003278914]	conflicting interpretations of pathogenicity\|uncertain significance	2	219504185	219504185	Human	2	name
26916510	CV825789	single nucleotide variant	NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)	Alacrima, achalasia, and intellectual disability syndrome [RCV001056399]	uncertain significance	2	219502391	219502391	Human	1	name
38479653	CV942627	single nucleotide variant	NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)	Alacrima, achalasia, and intellectual disability syndrome [RCV001234428]\|Inborn genetic diseases [RCV003166441]\|not provided [RCV004695248]	uncertain significance	2	219506037	219506037	Human	2	name
8573627	CV94273	single nucleotide variant	NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)	Alacrima, achalasia, and intellectual disability syndrome [RCV000074376]	pathogenic\|uncertain significance	2	219504138	219504138	Human	1	name
8573629	CV94275	single nucleotide variant	NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)	Alacrima, achalasia, and intellectual disability syndrome [RCV000074378]	pathogenic	2	219505249	219505249	Human	1	name
38499197	CV952952	single nucleotide variant	NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp)	Alacrima, achalasia, and intellectual disability syndrome [RCV001244313]\|Inborn genetic diseases [RCV002568584]\|not provided [RCV003481026]	uncertain significance	2	219504176	219504176	Human	2	name
126734366	CV988391	single nucleotide variant	NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)	Alacrima, achalasia, and intellectual disability syndrome [RCV001304426]	uncertain significance	2	219505501	219505501	Human	1	name
126737799	CV1003701	single nucleotide variant	NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)	Alacrima, achalasia, and intellectual disability syndrome [RCV001324845]	uncertain significance	2	219506410	219506410	Human	1	name
126738026	CV1016003	single nucleotide variant	NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)	Alacrima, achalasia, and intellectual disability syndrome [RCV002643101]	pathogenic\|uncertain significance	2	219506703	219506703	Human	1	name
150458222	CV1226187	single nucleotide variant	NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)	Alacrima, achalasia, and intellectual disability syndrome [RCV001638184]	pathogenic\|likely pathogenic	2	219506356	219506356	Human	1	name
151661374	CV1329789	single nucleotide variant	NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)	Alacrima, achalasia, and intellectual disability syndrome [RCV001822973]	pathogenic	2	219506378	219506378	Human	1	name
151790255	CV1393053	single nucleotide variant	NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)	Alacrima, achalasia, and intellectual disability syndrome [RCV001931348]\|Inborn genetic diseases [RCV004041929]	uncertain significance	2	219506312	219506312	Human	2	name
156003375	CV1869628	single nucleotide variant	NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)	Alacrima, achalasia, and intellectual disability syndrome [RCV003076701]	uncertain significance	2	219506299	219506299	Human	1	name
156442569	CV1938800	single nucleotide variant	NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)	Alacrima, achalasia, and intellectual disability syndrome [RCV003112915]\|Inborn genetic diseases [RCV004634220]	uncertain significance	2	219506305	219506305	Human	2	name
156296878	CV2017105	single nucleotide variant	NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)	Alacrima, achalasia, and intellectual disability syndrome [RCV002715880]	uncertain significance	2	219506360	219506360	Human	1	name
156002554	CV2103421	single nucleotide variant	NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)	Alacrima, achalasia, and intellectual disability syndrome [RCV002900545]\|Inborn genetic diseases [RCV002908704]	uncertain significance	2	219506365	219506365	Human	2	name
155978844	CV2132625	single nucleotide variant	NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)	Alacrima, achalasia, and intellectual disability syndrome [RCV002995993]	uncertain significance	2	219506317	219506317	Human	1	name
155961790	CV2200764	single nucleotide variant	NM_013335.4(GMPPA):c.1156A>G (p.Ile386Val)	Inborn genetic diseases [RCV002686685]	uncertain significance	2	219506416	219506416	Human	1	name
401877038	CV2793325	single nucleotide variant	NM_013335.4(GMPPA):c.1208T>C (p.Ile403Thr)	Inborn genetic diseases [RCV003383617]	uncertain significance	2	219506743	219506743	Human	1	name
401919071	CV2794750	single nucleotide variant	NM_013335.4(GMPPA):c.1001C>T (p.Thr334Met)	not specified [RCV003388425]	uncertain significance	2	219506261	219506261	Human		name
405767801	CV3261999	single nucleotide variant	NM_013335.4(GMPPA):c.1094C>T (p.Pro365Leu)	Inborn genetic diseases [RCV004395388]	uncertain significance	2	219506354	219506354	Human	1	name
597931901	CV3863299	single nucleotide variant	NM_013335.4(GMPPA):c.1175G>A (p.Arg392Gln)	Alacrima, achalasia, and intellectual disability syndrome [RCV005206825]	uncertain significance	2	219506710	219506710	Human	1	name
15134435	CV781193	single nucleotide variant	NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn)	Alacrima, achalasia, and intellectual disability syndrome [RCV000981740]\|GMPPA-related disorder [RCV003936224]	likely benign	2	219506397	219506397	Human	1	name , trait , alternate_id
26902799	CV825790	single nucleotide variant	NM_013335.4(GMPPA):c.1046G>A (p.Arg349His)	Alacrima, achalasia, and intellectual disability syndrome [RCV001071999]	uncertain significance	2	219506306	219506306	Human	1	name
8573626	CV94272	single nucleotide variant	NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)	Alacrima, achalasia, and intellectual disability syndrome [RCV000074375]	pathogenic	2	219506260	219506260	Human	1	name
152980499	CV1678645	duplication	NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)	Alacrima, achalasia, and intellectual disability syndrome [RCV003741295]\|not provided [RCV002247153]	pathogenic\|likely pathogenic	2	219505243	219505244	Human	1	name

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