Tgm5 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

179 records found for search term Tgm5

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11617755	CV338948	single nucleotide variant	NM_201631.4(TGM5):c.*56T>C	Acral peeling skin syndrome [RCV000307594]	uncertain significance	15	43233135	43233135	Human	1	name
152982552	CV1677481	single nucleotide variant	NM_201631.4(TGM5):c.10+2T>C	Acral peeling skin syndrome [RCV002249190]	likely pathogenic	15	43266838	43266838	Human	1	name
11622881	CV331962	single nucleotide variant	NM_201631.4(TGM5):c.*430C>T	Acral peeling skin syndrome [RCV000365795]	uncertain significance	15	43232761	43232761	Human	1	name
11613471	CV331966	single nucleotide variant	NM_201631.4(TGM5):c.*252C>T	Acral peeling skin syndrome [RCV000268817]\|not provided [RCV004714947]	benign\|likely benign	15	43232939	43232939	Human	1	name
28889288	CV873534	single nucleotide variant	NM_201631.4(TGM5):c.*510A>G	Acral peeling skin syndrome [RCV001120199]	uncertain significance	15	43232681	43232681	Human	1	name
127257629	CV1056224	single nucleotide variant	NM_201631.4(TGM5):c.556-1G>C	not provided [RCV001379799]	likely pathogenic	15	43253635	43253635	Human		name
11625500	CV331996	single nucleotide variant	NM_201631.4(TGM5):c.863-9T>C	Acral peeling skin syndrome [RCV000399356]	uncertain significance	15	43240999	43240999	Human	1	name
11625280	CV338977	single nucleotide variant	NM_201631.4(TGM5):c.10+11C>T	Acral peeling skin syndrome [RCV000396703]\|not provided [RCV001613013]	benign\|likely benign	15	43266829	43266829	Human	1	name
11621571	CV340571	single nucleotide variant	NM_201631.4(TGM5):c.11-11C>A	Acral peeling skin syndrome [RCV000350298]\|not provided [RCV004693216]	uncertain significance	15	43260590	43260590	Human	1	name
15157816	CV730995	single nucleotide variant	NM_201631.4(TGM5):c.556-5C>T	not provided [RCV000880889]	benign	15	43253639	43253639	Human		name
15128452	CV745097	single nucleotide variant	NM_201631.4(TGM5):c.437-9G>T	not provided [RCV000897275]	likely benign	15	43256695	43256695	Human		name
21072644	CV791448	single nucleotide variant	NM_201631.4(TGM5):c.684+1G>A	Peeling skin syndrome 1 [RCV000989296]	likely pathogenic	15	43253505	43253505	Human	1	name
150500063	CV1212139	single nucleotide variant	NM_201631.4(TGM5):c.10+215T>G	not provided [RCV001594493]	benign	15	43266625	43266625	Human		name
150430760	CV1231040	single nucleotide variant	NM_201631.4(TGM5):c.862+24A>G	not provided [RCV001641589]	benign	15	43252735	43252735	Human		name
150472974	CV1259388	single nucleotide variant	NM_201631.4(TGM5):c.11-197A>C	not provided [RCV001684634]	benign	15	43260776	43260776	Human		name
401917641	CV2829942	single nucleotide variant	NM_201631.4(TGM5):c.2009+1G>A	not provided [RCV003443986]	uncertain significance	15	43233553	43233553	Human		name
11620765	CV340558	single nucleotide variant	NM_201631.4(TGM5):c.1106-7C>T	Acral peeling skin syndrome [RCV000340561]\|not provided [RCV000959213]	benign\|likely benign	15	43239063	43239063	Human	1	name
28878806	CV876513	single nucleotide variant	NM_201631.4(TGM5):c.1106-9C>G	Acral peeling skin syndrome [RCV001117024]	uncertain significance	15	43239065	43239065	Human	1	name
28884132	CV876514	single nucleotide variant	NM_201631.4(TGM5):c.863-12C>T	Acral peeling skin syndrome [RCV001118652]	uncertain significance	15	43241002	43241002	Human	1	name
150337098	CV1172714	single nucleotide variant	NM_201631.4(TGM5):c.685-180G>A	not provided [RCV001541411]	benign	15	43253116	43253116	Human		name
150450270	CV1215226	single nucleotide variant	NM_201631.4(TGM5):c.436+331C>T	not provided [RCV001611816]	benign	15	43259721	43259721	Human		name
150466168	CV1277359	single nucleotide variant	NM_201631.4(TGM5):c.1001+51C>A	not provided [RCV001710654]	benign	15	43240801	43240801	Human		name
150511739	CV1284770	single nucleotide variant	NM_201631.4(TGM5):c.437-234T>C	not provided [RCV001721639]	benign	15	43256920	43256920	Human		name
28890128	CV876512	single nucleotide variant	NM_201631.4(TGM5):c.1714+14C>T	Acral peeling skin syndrome [RCV001120498]	uncertain significance	15	43235455	43235455	Human	1	name
150336112	CV1165069	single nucleotide variant	NM_201631.4(TGM5):c.1002-164A>G	not provided [RCV001530695]	benign	15	43239430	43239430	Human		name
150505130	CV1255391	single nucleotide variant	NM_201631.4(TGM5):c.1715-109T>C	not provided [RCV001677838]	benign	15	43235038	43235038	Human		name
12893272	CV409231	deletion	NM_201631.4(TGM5):c.1001+2_1001+3del	not provided [RCV000478405]	pathogenic	15	43240849	43240850	Human		name
11619463	CV340569	single nucleotide variant	NM_201631.4(TGM5):c.282C>G (p.Thr94=)	Acral peeling skin syndrome [RCV000325926]\|TGM5-related disorder [RCV003930352]\|not provided [RCV000953336]	benign\|likely benign\|uncertain significance	15	43260206	43260206	Human	1	name , trait , alternate_id
401759740	CV2698611	single nucleotide variant	NM_201631.4(TGM5):c.29C>T (p.Thr10Ile)	Inborn genetic diseases [RCV003280264]	uncertain significance	15	43260561	43260561	Human	1	name
401879507	CV2773138	single nucleotide variant	NM_201631.4(TGM5):c.98T>C (p.Val33Ala)	Inborn genetic diseases [RCV003364332]	uncertain significance	15	43260492	43260492	Human	1	name
405270790	CV3212044	single nucleotide variant	NM_201631.4(TGM5):c.744C>T (p.Asp248=)	TGM5-related disorder [RCV003949429]	likely benign	15	43252877	43252877	Human		name , trait , alternate_id
405271487	CV3219031	single nucleotide variant	NM_201631.4(TGM5):c.825C>T (p.Tyr275=)	TGM5-related disorder [RCV003971755]	likely benign	15	43252796	43252796	Human		name , trait , alternate_id
11653905	CV322556	single nucleotide variant	NM_201631.4(TGM5):c.918C>T (p.His306=)	Acral peeling skin syndrome [RCV000314002]	uncertain significance	15	43240935	43240935	Human	1	name
11612439	CV332001	single nucleotide variant	NM_201631.4(TGM5):c.753C>T (p.Asn251=)	Peeling skin syndrome 1 [RCV000259479]	uncertain significance	15	43252868	43252868	Human	1	name
11622015	CV332002	single nucleotide variant	NM_201631.4(TGM5):c.660C>T (p.Tyr220=)	Acral peeling skin syndrome [RCV000355393]\|not provided [RCV001642985]	benign	15	43253530	43253530	Human	1	name
11615995	CV338975	single nucleotide variant	NM_201631.4(TGM5):c.44C>G (p.Ser15Cys)	Acral peeling skin syndrome [RCV000290717]\|not provided [RCV000957935]	benign\|likely benign	15	43260546	43260546	Human	1	name
11625230	CV340562	single nucleotide variant	NM_201631.4(TGM5):c.960C>T (p.Asn320=)	Acral peeling skin syndrome [RCV000396352]\|not provided [RCV001683272]	benign\|likely benign	15	43240893	43240893	Human	1	name
11621961	CV340563	single nucleotide variant	NM_201631.4(TGM5):c.768G>A (p.Thr256=)	Acral peeling skin syndrome [RCV000354311]	uncertain significance	15	43252853	43252853	Human	1	name
11613052	CV340567	single nucleotide variant	NM_201631.4(TGM5):c.654C>T (p.Pro218=)	Acral peeling skin syndrome [RCV000265164]\|not provided [RCV000971626]	benign\|likely benign	15	43253536	43253536	Human	1	name
597641793	CV3616247	single nucleotide variant	NM_201631.4(TGM5):c.53A>C (p.Asn18Thr)	Inborn genetic diseases [RCV004971793]	uncertain significance	15	43260537	43260537	Human	1	name
14693086	CV620514	deletion	NM_201631.4(TGM5):c.255del (p.Ser86fs)	Acral peeling skin syndrome [RCV000778431]\|not provided [RCV001008784]	pathogenic\|likely pathogenic	15	43260233	43260233	Human	1	name
15198237	CV726078	single nucleotide variant	NM_201631.4(TGM5):c.843T>C (p.Phe281=)	not provided [RCV000890295]	likely benign	15	43252778	43252778	Human		name
28884146	CV873545	single nucleotide variant	NM_201631.4(TGM5):c.834C>T (p.Cys278=)	Acral peeling skin syndrome [RCV001118654]	uncertain significance	15	43252787	43252787	Human	1	name
28884153	CV873547	single nucleotide variant	NM_201631.4(TGM5):c.810C>T (p.Cys270=)	Acral peeling skin syndrome [RCV001118656]	uncertain significance	15	43252811	43252811	Human	1	name
9681784	CV167431	single nucleotide variant	NM_201631.4(TGM5):c.122T>C (p.Leu41Pro)	Acral peeling skin syndrome [RCV000144913]\|not provided [RCV000442177]	pathogenic\|likely pathogenic\|uncertain significance	15	43260468	43260468	Human	1	name
9681793	CV167432	deletion	NM_201631.4(TGM5):c.640del (p.Leu214fs)	Acral peeling skin syndrome [RCV000144914]\|Peeling skin syndrome 1 [RCV000989297]	pathogenic	15	43253550	43253550	Human	2	name
156069833	CV2292837	single nucleotide variant	NM_201631.4(TGM5):c.111G>T (p.Gln37His)	Inborn genetic diseases [RCV002886821]	uncertain significance	15	43260479	43260479	Human	1	name
329356955	CV2431204	single nucleotide variant	NM_201631.4(TGM5):c.284A>G (p.Asn95Ser)	Inborn genetic diseases [RCV003178429]	uncertain significance	15	43260204	43260204	Human	1	name
329357124	CV2457547	single nucleotide variant	NM_201631.4(TGM5):c.128T>A (p.Leu43Gln)	Inborn genetic diseases [RCV003203581]	uncertain significance	15	43260462	43260462	Human	1	name
401766242	CV2732208	single nucleotide variant	NM_201631.4(TGM5):c.241C>T (p.Arg81Cys)	Inborn genetic diseases [RCV003301757]	uncertain significance	15	43260247	43260247	Human	1	name
401944628	CV2831779	single nucleotide variant	NM_201631.4(TGM5):c.115T>A (p.Phe39Ile)	Acral peeling skin syndrome [RCV003445428]	likely pathogenic	15	43260475	43260475	Human	1	name
11601525	CV322553	single nucleotide variant	NM_201631.4(TGM5):c.1209C>T (p.Cys403=)	Acral peeling skin syndrome [RCV000283173]\|not provided [RCV000923967]	likely benign\|uncertain significance	15	43238953	43238953	Human	1	name
11619829	CV331975	single nucleotide variant	NM_201631.4(TGM5):c.1773C>T (p.Asp591=)	Acral peeling skin syndrome [RCV000329720]\|TGM5-related disorder [RCV003920327]\|not provided [RCV000963716]	benign\|likely benign\|uncertain significance	15	43234871	43234871	Human	1	name , trait , alternate_id
11624362	CV332007	single nucleotide variant	NM_201631.4(TGM5):c.167A>T (p.Asn56Ile)	Acral peeling skin syndrome [RCV000385164]	uncertain significance	15	43260423	43260423	Human	1	name
11624459	CV340557	single nucleotide variant	NM_201631.4(TGM5):c.1689G>A (p.Ala563=)	Acral peeling skin syndrome [RCV000386527]\|TGM5-related disorder [RCV003950075]\|not provided [RCV001092493]	likely benign\|uncertain significance	15	43235494	43235494	Human	1	name , trait , alternate_id
11625229	CV340559	single nucleotide variant	NM_201631.4(TGM5):c.1104C>T (p.Asn368=)	Acral peeling skin syndrome [RCV000396342]	uncertain significance	15	43239164	43239164	Human	1	name
597641789	CV3616246	single nucleotide variant	NM_201631.4(TGM5):c.277G>C (p.Glu93Gln)	Inborn genetic diseases [RCV004971792]	uncertain significance	15	43260211	43260211	Human	1	name
597641801	CV3616249	single nucleotide variant	NM_201631.4(TGM5):c.264G>T (p.Trp88Cys)	Inborn genetic diseases [RCV004971795]	uncertain significance	15	43260224	43260224	Human	1	name
597641819	CV3616253	single nucleotide variant	NM_201631.4(TGM5):c.138G>T (p.Arg46Ser)	Inborn genetic diseases [RCV004971799]	uncertain significance	15	43260452	43260452	Human	1	name
598184142	CV3913379	single nucleotide variant	NM_201631.4(TGM5):c.209C>T (p.Ala70Val)	Inborn genetic diseases [RCV005287236]	uncertain significance	15	43260279	43260279	Human	1	name
13476050	CV445319	single nucleotide variant	NM_201631.4(TGM5):c.104G>A (p.Arg35Gln)	Inborn genetic diseases [RCV000624882]\|not provided [RCV000520047]	pathogenic\|likely pathogenic	15	43260486	43260486	Human	1	name
15202499	CV703216	single nucleotide variant	NM_201631.4(TGM5):c.1986C>T (p.Leu662=)	not provided [RCV000957933]	benign	15	43233577	43233577	Human		name
15202503	CV703217	single nucleotide variant	NM_201631.4(TGM5):c.1197G>A (p.Val399=)	not provided [RCV000957934]	benign	15	43238965	43238965	Human		name
15099039	CV703218	single nucleotide variant	NM_201631.4(TGM5):c.125C>A (p.Thr42Asn)	Acral peeling skin syndrome [RCV001115685]\|TGM5-related disorder [RCV003905789]\|not provided [RCV000958689]	likely benign\|uncertain significance	15	43260465	43260465	Human	1	name , trait , alternate_id
28889296	CV873536	single nucleotide variant	NM_201631.4(TGM5):c.1941G>A (p.Ser647=)	Acral peeling skin syndrome [RCV001120201]	uncertain significance	15	43233622	43233622	Human	1	name
28890127	CV873540	single nucleotide variant	NM_201631.4(TGM5):c.1716A>G (p.Ala572=)	Acral peeling skin syndrome [RCV001120497]	uncertain significance	15	43234928	43234928	Human	1	name
28874757	CV873542	single nucleotide variant	NM_201631.4(TGM5):c.1239G>A (p.Glu413=)	Acral peeling skin syndrome [RCV001115595]	uncertain significance	15	43238923	43238923	Human	1	name
28878811	CV873543	single nucleotide variant	NM_201631.4(TGM5):c.1080C>T (p.Asp360=)	Acral peeling skin syndrome [RCV001117025]\|TGM5-related disorder [RCV003938466]	likely benign\|uncertain significance	15	43239188	43239188	Human	1	name , trait , alternate_id
28874967	CV873551	single nucleotide variant	NM_201631.4(TGM5):c.258C>G (p.Ser86Arg)	Acral peeling skin syndrome [RCV001115684]\|not provided [RCV004693708]	uncertain significance	15	43260230	43260230	Human	1	name
150545159	CV1315449	single nucleotide variant	NM_201631.4(TGM5):c.393C>A (p.Tyr131Ter)	Acral peeling skin syndrome [RCV001783866]	likely pathogenic	15	43260095	43260095	Human	1	name
150545160	CV1315450	single nucleotide variant	NM_201631.4(TGM5):c.829C>T (p.Gln277Ter)	Acral peeling skin syndrome [RCV001783867]	likely pathogenic	15	43252792	43252792	Human	1	name
8691381	CV141341	single nucleotide variant	NM_201631.4(TGM5):c.314G>A (p.Cys105Tyr)	Acral peeling skin syndrome [RCV000285208]\|not provided [RCV000906173]	benign\|likely benign	15	43260174	43260174	Human	1	name
8691382	CV141342	single nucleotide variant	NM_201631.4(TGM5):c.326C>T (p.Thr109Met)	Acral peeling skin syndrome [RCV000256230]\|not provided [RCV000882550]	benign\|likely benign	15	43260162	43260162	Human	1	name
9681792	CV167430	single nucleotide variant	NM_201631.4(TGM5):c.763T>C (p.Trp255Arg)	Acral peeling skin syndrome [RCV000144912]	pathogenic	15	43252858	43252858	Human	1	name
8597011	CV21078	single nucleotide variant	NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)	Acral peeling skin syndrome [RCV000006411]\|Inborn genetic diseases [RCV000623924]\|TGM5-related disorder [RCV003398452]\|not provided [RCV000340380]	pathogenic	15	43260151	43260151	Human	2	name , trait , alternate_id
156088335	CV2259042	single nucleotide variant	NM_201631.4(TGM5):c.644G>A (p.Arg215Gln)	Inborn genetic diseases [RCV002798351]	uncertain significance	15	43253546	43253546	Human	1	name
156169800	CV2276833	single nucleotide variant	NM_201631.4(TGM5):c.929G>A (p.Gly310Glu)	Inborn genetic diseases [RCV002873035]	uncertain significance	15	43240924	43240924	Human	1	name
155965374	CV2286932	single nucleotide variant	NM_201631.4(TGM5):c.758C>T (p.Ala253Val)	Inborn genetic diseases [RCV002841707]	uncertain significance	15	43252863	43252863	Human	1	name
156057236	CV2343532	single nucleotide variant	NM_201631.4(TGM5):c.380C>T (p.Ser127Phe)	Acral peeling skin syndrome [RCV003140200]\|Inborn genetic diseases [RCV002978138]\|not provided [RCV005054443]	uncertain significance	15	43260108	43260108	Human	2	name
156079349	CV2351179	single nucleotide variant	NM_201631.4(TGM5):c.854T>C (p.Met285Thr)	Inborn genetic diseases [RCV003001204]	uncertain significance	15	43252767	43252767	Human	1	name
155936549	CV2380521	single nucleotide variant	NM_201631.4(TGM5):c.565A>G (p.Lys189Glu)	Inborn genetic diseases [RCV002729556]	uncertain significance	15	43253625	43253625	Human	1	name
156082899	CV2394860	single nucleotide variant	NM_201631.4(TGM5):c.503T>C (p.Ile168Thr)	Inborn genetic diseases [RCV002783841]	uncertain significance	15	43256620	43256620	Human	1	name
329366328	CV2448474	single nucleotide variant	NM_201631.4(TGM5):c.496G>A (p.Gly166Ser)	Inborn genetic diseases [RCV003207699]	uncertain significance	15	43256627	43256627	Human	1	name
401728309	CV2685999	single nucleotide variant	NM_201631.4(TGM5):c.728G>C (p.Ser243Thr)	Inborn genetic diseases [RCV003270540]	uncertain significance	15	43252893	43252893	Human	1	name
401756462	CV2687161	single nucleotide variant	NM_201631.4(TGM5):c.907G>A (p.Asp303Asn)	Inborn genetic diseases [RCV003255663]	uncertain significance	15	43240946	43240946	Human	1	name
405027084	CV2853375	single nucleotide variant	NM_201631.4(TGM5):c.774C>G (p.Ser258Arg)	Acral peeling skin syndrome [RCV003494565]	uncertain significance	15	43252847	43252847	Human	1	name
11604871	CV322560	single nucleotide variant	NM_201631.4(TGM5):c.821G>A (p.Arg274His)	Acral peeling skin syndrome [RCV000313545]\|not provided [RCV004693215]	uncertain significance	15	43252800	43252800	Human	1	name
405792620	CV3339017	single nucleotide variant	NM_201631.4(TGM5):c.316G>A (p.Ala106Thr)	Inborn genetic diseases [RCV004474619]	uncertain significance	15	43260172	43260172	Human	1	name
405792623	CV3339018	single nucleotide variant	NM_201631.4(TGM5):c.396G>C (p.Gln132His)	Inborn genetic diseases [RCV004474620]\|not provided [RCV005104749]	uncertain significance	15	43260092	43260092	Human	1	name
405792625	CV3339019	single nucleotide variant	NM_201631.4(TGM5):c.501C>A (p.Phe167Leu)	Inborn genetic diseases [RCV004474621]	uncertain significance	15	43256622	43256622	Human	1	name
405792628	CV3339020	single nucleotide variant	NM_201631.4(TGM5):c.580T>G (p.Cys194Gly)	Inborn genetic diseases [RCV004474622]	uncertain significance	15	43253610	43253610	Human	1	name
11621063	CV338967	single nucleotide variant	NM_201631.4(TGM5):c.989A>T (p.Lys330Met)	Acral peeling skin syndrome [RCV000344298]\|not provided [RCV000907618]	likely benign\|uncertain significance	15	43240864	43240864	Human	1	name
11660843	CV338969	single nucleotide variant	NM_201631.4(TGM5):c.897C>G (p.Ile299Met)	Acral peeling skin syndrome [RCV000370976]	uncertain significance	15	43240956	43240956	Human	1	name
11618902	CV340565	single nucleotide variant	NM_201631.4(TGM5):c.723C>G (p.Asn241Lys)	Acral peeling skin syndrome [RCV000319229]\|Inborn genetic diseases [RCV002520959]\|TGM5-related disorder [RCV003910191]\|not provided [RCV004705312]	benign\|likely benign\|uncertain significance	15	43252898	43252898	Human	2	name , trait , alternate_id
408378413	CV3512417	single nucleotide variant	NM_201631.4(TGM5):c.817G>A (p.Val273Met)	TGM5-related disorder [RCV004752240]	uncertain significance	15	43252804	43252804	Human		name , trait , alternate_id
408389359	CV3523032	single nucleotide variant	NM_201631.4(TGM5):c.856T>C (p.Cys286Arg)	not provided [RCV004769413]	uncertain significance	15	43252765	43252765	Human		name
12740983	CV360142	single nucleotide variant	NM_201631.4(TGM5):c.919G>A (p.Asp307Asn)	not specified [RCV000413722]	uncertain significance	15	43240934	43240934	Human		name
597641768	CV3616239	single nucleotide variant	NM_201631.4(TGM5):c.855G>A (p.Met285Ile)	Inborn genetic diseases [RCV004971787]	uncertain significance	15	43252766	43252766	Human	1	name
597641774	CV3616240	single nucleotide variant	NM_201631.4(TGM5):c.775G>A (p.Val259Met)	Inborn genetic diseases [RCV004971788]	uncertain significance	15	43252846	43252846	Human	1	name
597641785	CV3616243	single nucleotide variant	NM_201631.4(TGM5):c.748G>A (p.Ala250Thr)	Inborn genetic diseases [RCV004971791]	uncertain significance	15	43252873	43252873	Human	1	name
597641797	CV3616248	single nucleotide variant	NM_201631.4(TGM5):c.878G>A (p.Gly293Glu)	Inborn genetic diseases [RCV004971794]	uncertain significance	15	43240975	43240975	Human	1	name
597641806	CV3616250	single nucleotide variant	NM_201631.4(TGM5):c.616A>T (p.Thr206Ser)	Inborn genetic diseases [RCV004971796]	uncertain significance	15	43253574	43253574	Human	1	name
597641810	CV3616251	single nucleotide variant	NM_201631.4(TGM5):c.653C>T (p.Pro218Leu)	Inborn genetic diseases [RCV004971797]	uncertain significance	15	43253537	43253537	Human	1	name
597641813	CV3616252	single nucleotide variant	NM_201631.4(TGM5):c.766A>G (p.Thr256Ala)	Inborn genetic diseases [RCV004971798]	uncertain significance	15	43252855	43252855	Human	1	name
597709291	CV3707871	single nucleotide variant	NM_201631.4(TGM5):c.643C>T (p.Arg215Trp)	Acral peeling skin syndrome [RCV005009595]	likely pathogenic	15	43253547	43253547	Human	1	name
598204520	CV3896673	deletion	NM_201631.4(TGM5):c.1664del (p.Leu555fs)	Acral peeling skin syndrome [RCV005356876]	likely pathogenic	15	43235519	43235519	Human	1	name
598184116	CV3913372	single nucleotide variant	NM_201631.4(TGM5):c.820C>T (p.Arg274Cys)	Inborn genetic diseases [RCV005287231]	uncertain significance	15	43252801	43252801	Human	1	name
598184122	CV3913373	single nucleotide variant	NM_201631.4(TGM5):c.303G>T (p.Glu101Asp)	Inborn genetic diseases [RCV005287232]	uncertain significance	15	43260185	43260185	Human	1	name
598184128	CV3913374	single nucleotide variant	NM_201631.4(TGM5):c.799G>A (p.Ala267Thr)	Inborn genetic diseases [RCV005287233]	uncertain significance	15	43252822	43252822	Human	1	name
598175703	CV3913375	single nucleotide variant	NM_201631.4(TGM5):c.361A>C (p.Ile121Leu)	Inborn genetic diseases [RCV005285529]	uncertain significance	15	43260127	43260127	Human	1	name
598184148	CV3913380	single nucleotide variant	NM_201631.4(TGM5):c.695A>G (p.Asn232Ser)	Inborn genetic diseases [RCV005287237]	uncertain significance	15	43252926	43252926	Human	1	name
598175710	CV3913381	single nucleotide variant	NM_201631.4(TGM5):c.778G>A (p.Ala260Thr)	Inborn genetic diseases [RCV005285531]	uncertain significance	15	43252843	43252843	Human	1	name
13481408	CV445317	deletion	NM_201631.4(TGM5):c.1304del (p.Asp435fs)	not provided [RCV000521499]	pathogenic\|likely pathogenic	15	43238858	43238858	Human		name
13485486	CV445318	single nucleotide variant	NM_201631.4(TGM5):c.946G>A (p.Glu316Lys)	not provided [RCV000522622]	uncertain significance	15	43240907	43240907	Human		name
28884140	CV873544	single nucleotide variant	NM_201631.4(TGM5):c.850G>A (p.Val284Ile)	Acral peeling skin syndrome [RCV001118653]\|TGM5-related disorder [RCV003973088]\|not provided [RCV002269336]	likely benign\|uncertain significance	15	43252771	43252771	Human	1	name , trait , alternate_id
28884151	CV873546	single nucleotide variant	NM_201631.4(TGM5):c.820C>A (p.Arg274Ser)	Acral peeling skin syndrome [RCV001118655]	uncertain significance	15	43252801	43252801	Human	1	name
28890391	CV873548	single nucleotide variant	NM_201631.4(TGM5):c.607C>T (p.His203Tyr)	Acral peeling skin syndrome [RCV001120597]	uncertain significance	15	43253583	43253583	Human	1	name
28890394	CV873549	single nucleotide variant	NM_201631.4(TGM5):c.600G>C (p.Lys200Asn)	Acral peeling skin syndrome [RCV001120598]	uncertain significance	15	43253590	43253590	Human	1	name
28890396	CV873550	single nucleotide variant	NM_201631.4(TGM5):c.509A>G (p.Gln170Arg)	Acral peeling skin syndrome [RCV001120599]	likely benign	15	43256614	43256614	Human	1	name
150409785	CV1191668	single nucleotide variant	NM_201631.4(TGM5):c.1016G>A (p.Trp339Ter)	not provided [RCV001565779]	pathogenic	15	43239252	43239252	Human		name
9681791	CV167429	single nucleotide variant	NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn)	Acral peeling skin syndrome [RCV000144911]\|not provided [RCV001550760]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	15	43238827	43238827	Human	1	name
153349001	CV1693113	single nucleotide variant	NM_201631.4(TGM5):c.1190C>G (p.Ser397Trp)	Inborn genetic diseases [RCV003101561]\|not provided [RCV002275384]	likely pathogenic\|uncertain significance	15	43238972	43238972	Human	1	name
156042415	CV2126934	single nucleotide variant	NM_201631.4(TGM5):c.1175C>T (p.Thr392Met)	not provided [RCV002949673]	likely benign	15	43238987	43238987	Human		name
156186671	CV2195688	single nucleotide variant	NM_201631.4(TGM5):c.1891G>A (p.Val631Ile)	Inborn genetic diseases [RCV002665632]	likely benign	15	43233672	43233672	Human	1	name
156031294	CV2202656	single nucleotide variant	NM_201631.4(TGM5):c.1098G>A (p.Met366Ile)	Inborn genetic diseases [RCV002691599]	uncertain significance	15	43239170	43239170	Human	1	name
156385813	CV2228040	single nucleotide variant	NM_201631.4(TGM5):c.1506T>A (p.Ser502Arg)	Inborn genetic diseases [RCV002723526]	uncertain significance	15	43235677	43235677	Human	1	name
156018368	CV2233104	single nucleotide variant	NM_201631.4(TGM5):c.1145A>G (p.Lys382Arg)	Inborn genetic diseases [RCV002757086]\|not provided [RCV004775318]	uncertain significance	15	43239017	43239017	Human	1	name
156006279	CV2288722	single nucleotide variant	NM_201631.4(TGM5):c.1940C>T (p.Ser647Leu)	Inborn genetic diseases [RCV002865801]	uncertain significance	15	43233623	43233623	Human	1	name
156038266	CV2332615	single nucleotide variant	NM_201631.4(TGM5):c.1664T>C (p.Leu555Pro)	Inborn genetic diseases [RCV002977019]	uncertain significance	15	43235519	43235519	Human	1	name
155980397	CV2336908	single nucleotide variant	NM_201631.4(TGM5):c.2010C>A (p.Phe670Leu)	Inborn genetic diseases [RCV002973792]	likely benign	15	43233344	43233344	Human	1	name
155986944	CV2354822	single nucleotide variant	NM_201631.4(TGM5):c.1419A>C (p.Gln473His)	Inborn genetic diseases [RCV002974353]	likely benign	15	43235764	43235764	Human	1	name
156041308	CV2387714	single nucleotide variant	NM_201631.4(TGM5):c.1692C>A (p.Phe564Leu)	Inborn genetic diseases [RCV002758772]	uncertain significance	15	43235491	43235491	Human	1	name
243062992	CV2414073	single nucleotide variant	NM_201631.4(TGM5):c.1518A>T (p.Gln506His)	Acral peeling skin syndrome [RCV003140992]	uncertain significance	15	43235665	43235665	Human	1	name
329357349	CV2431351	single nucleotide variant	NM_201631.4(TGM5):c.1475G>A (p.Arg492Gln)	Inborn genetic diseases [RCV003178576]	uncertain significance	15	43235708	43235708	Human	1	name
329376865	CV2435724	single nucleotide variant	NM_201631.4(TGM5):c.1605G>C (p.Gln535His)	Inborn genetic diseases [RCV003174307]	uncertain significance	15	43235578	43235578	Human	1	name
329386166	CV2454839	single nucleotide variant	NM_201631.4(TGM5):c.1684A>G (p.Thr562Ala)	Inborn genetic diseases [RCV003214679]	uncertain significance	15	43235499	43235499	Human	1	name
329361016	CV2463203	single nucleotide variant	NM_201631.4(TGM5):c.1670C>T (p.Pro557Leu)	Inborn genetic diseases [RCV003205301]	uncertain significance	15	43235513	43235513	Human	1	name
329381438	CV2471134	single nucleotide variant	NM_201631.4(TGM5):c.1355A>T (p.Gln452Leu)	Inborn genetic diseases [RCV003213061]	uncertain significance	15	43235828	43235828	Human	1	name
401783146	CV2716150	single nucleotide variant	NM_201631.4(TGM5):c.1956C>A (p.Asp652Glu)	Inborn genetic diseases [RCV003309333]	uncertain significance	15	43233607	43233607	Human	1	name
401879414	CV2773081	single nucleotide variant	NM_201631.4(TGM5):c.1286C>A (p.Thr429Lys)	Inborn genetic diseases [RCV003364299]	uncertain significance	15	43238876	43238876	Human	1	name
401891807	CV2780807	single nucleotide variant	NM_201631.4(TGM5):c.1819G>A (p.Glu607Lys)	Inborn genetic diseases [RCV003369653]	uncertain significance	15	43234825	43234825	Human	1	name
401934431	CV2817511	single nucleotide variant	NM_201631.4(TGM5):c.1108G>A (p.Val370Ile)	not provided [RCV003411180]	likely benign	15	43239054	43239054	Human		name
11610305	CV322550	single nucleotide variant	NM_201631.4(TGM5):c.1252C>A (p.Gln418Lys)	Acral peeling skin syndrome [RCV000380033]	uncertain significance	15	43238910	43238910	Human	1	name
11604539	CV322554	single nucleotide variant	NM_201631.4(TGM5):c.1055C>G (p.Ala352Gly)	Acral peeling skin syndrome [RCV000310343]\|not provided [RCV001786363]	benign	15	43239213	43239213	Human	1	name
405701446	CV3225987	single nucleotide variant	NM_201631.4(TGM5):c.2161T>C (p.Ter721Gln)	Acral peeling skin syndrome [RCV003989429]	likely pathogenic	15	43233193	43233193	Human	1	name
11614412	CV331968	single nucleotide variant	NM_201631.4(TGM5):c.1820A>C (p.Glu607Ala)	Acral peeling skin syndrome [RCV000276866]\|TGM5-related disorder [RCV004751457]\|not provided [RCV004546479]	benign\|likely benign	15	43234824	43234824	Human	1	name , trait , alternate_id
11612752	CV331976	single nucleotide variant	NM_201631.4(TGM5):c.1562A>G (p.Gln521Arg)	Acral peeling skin syndrome [RCV000262027]\|TGM5-related disorder [RCV003920328]\|not provided [RCV004714949]	benign\|uncertain significance	15	43235621	43235621	Human	1	name , trait , alternate_id
11623348	CV331982	single nucleotide variant	NM_201631.4(TGM5):c.1498C>T (p.Arg500Ter)	Acral peeling skin syndrome [RCV000371924]	uncertain significance	15	43235685	43235685	Human		name
405792599	CV3339010	single nucleotide variant	NM_201631.4(TGM5):c.1177C>G (p.Pro393Ala)	Inborn genetic diseases [RCV004474612]	likely benign	15	43238985	43238985	Human	1	name
405792602	CV3339011	single nucleotide variant	NM_201631.4(TGM5):c.1553A>G (p.Asn518Ser)	Inborn genetic diseases [RCV004474613]	uncertain significance	15	43235630	43235630	Human	1	name
405792605	CV3339012	single nucleotide variant	NM_201631.4(TGM5):c.1626C>A (p.Asn542Lys)	Inborn genetic diseases [RCV004474614]	uncertain significance	15	43235557	43235557	Human	1	name
405792611	CV3339014	single nucleotide variant	NM_201631.4(TGM5):c.1922T>C (p.Ile641Thr)	Inborn genetic diseases [RCV004474616]	uncertain significance	15	43233641	43233641	Human	1	name
405792614	CV3339015	single nucleotide variant	NM_201631.4(TGM5):c.2038G>A (p.Ala680Thr)	Inborn genetic diseases [RCV004474617]	uncertain significance	15	43233316	43233316	Human	1	name
405792617	CV3339016	single nucleotide variant	NM_201631.4(TGM5):c.2129G>A (p.Gly710Asp)	Inborn genetic diseases [RCV004474618]	uncertain significance	15	43233225	43233225	Human	1	name
11623134	CV338950	single nucleotide variant	NM_201631.4(TGM5):c.1822A>G (p.Lys608Glu)	Acral peeling skin syndrome [RCV000369180]\|not provided [RCV004714948]	benign\|likely benign	15	43234822	43234822	Human	1	name
11618925	CV338952	single nucleotide variant	NM_201631.4(TGM5):c.1510G>A (p.Val504Met)	Acral peeling skin syndrome [RCV000319544]\|not provided [RCV001707648]	benign\|likely benign	15	43235673	43235673	Human	1	name
11614733	CV338953	single nucleotide variant	NM_201631.4(TGM5):c.1471C>T (p.Pro491Ser)	Acral peeling skin syndrome [RCV000279521]	uncertain significance	15	43235712	43235712	Human	1	name
11620873	CV338960	single nucleotide variant	NM_201631.4(TGM5):c.1309C>T (p.Arg437Trp)	Acral peeling skin syndrome [RCV000341790]	benign\|uncertain significance	15	43238853	43238853	Human	1	name
407429374	CV3413785	single nucleotide variant	NM_201631.4(TGM5):c.1020T>A (p.Asn340Lys)	Acral peeling skin syndrome [RCV004595194]	uncertain significance	15	43239248	43239248	Human	1	name
408377584	CV3509682	single nucleotide variant	NM_201631.4(TGM5):c.1268T>C (p.Val423Ala)	TGM5-related disorder [RCV004751097]	uncertain significance	15	43238894	43238894	Human		name , trait , alternate_id
408393729	CV3519807	single nucleotide variant	NM_201631.4(TGM5):c.1748A>G (p.Gln583Arg)	not provided [RCV004764103]	uncertain significance	15	43234896	43234896	Human		name
596929132	CV3540825	single nucleotide variant	NM_201631.4(TGM5):c.1193T>C (p.Met398Thr)	not provided [RCV004795154]	uncertain significance	15	43238969	43238969	Human		name
597641777	CV3616241	single nucleotide variant	NM_201631.4(TGM5):c.1513G>A (p.Val505Met)	Inborn genetic diseases [RCV004971789]	uncertain significance	15	43235670	43235670	Human	1	name
597641782	CV3616242	single nucleotide variant	NM_201631.4(TGM5):c.1460G>A (p.Ser487Asn)	Inborn genetic diseases [RCV004971790]	uncertain significance	15	43235723	43235723	Human	1	name
597709281	CV3707869	single nucleotide variant	NM_201631.4(TGM5):c.1037G>A (p.Arg346Gln)	Acral peeling skin syndrome [RCV005009594]	likely pathogenic	15	43239231	43239231	Human	1	name
597845208	CV3880376	single nucleotide variant	NM_201631.4(TGM5):c.1066T>C (p.Trp356Arg)	not provided [RCV005227264]	uncertain significance	15	43239202	43239202	Human		name
598175706	CV3913376	single nucleotide variant	NM_201631.4(TGM5):c.1688C>T (p.Ala563Val)	Inborn genetic diseases [RCV005285530]	uncertain significance	15	43235495	43235495	Human	1	name
598184132	CV3913377	single nucleotide variant	NM_201631.4(TGM5):c.1276T>C (p.Phe426Leu)	Inborn genetic diseases [RCV005287234]	uncertain significance	15	43238886	43238886	Human	1	name
12913282	CV422015	single nucleotide variant	NM_201631.4(TGM5):c.1036C>T (p.Arg346Trp)	not provided [RCV000493623]	likely pathogenic\|uncertain significance	15	43239232	43239232	Human		name
15159158	CV714452	single nucleotide variant	NM_201631.4(TGM5):c.1632T>G (p.Ser544Arg)	not provided [RCV000969657]	likely benign\|conflicting interpretations of pathogenicity	15	43235551	43235551	Human		name
28889292	CV873535	single nucleotide variant	NM_201631.4(TGM5):c.1970T>C (p.Val657Ala)	Acral peeling skin syndrome [RCV001120200]\|TGM5-related disorder [RCV004751888]\|not provided [RCV004546604]	benign	15	43233593	43233593	Human	1	name , trait , alternate_id
28889300	CV873537	single nucleotide variant	NM_201631.4(TGM5):c.1891G>C (p.Val631Leu)	Acral peeling skin syndrome [RCV001120202]\|Inborn genetic diseases [RCV004032221]	uncertain significance	15	43233672	43233672	Human	2	name
28890120	CV873538	single nucleotide variant	NM_201631.4(TGM5):c.1868C>T (p.Thr623Met)	Acral peeling skin syndrome [RCV001120495]\|Inborn genetic diseases [RCV002558195]	likely benign\|uncertain significance	15	43234776	43234776	Human	2	name
28890122	CV873539	single nucleotide variant	NM_201631.4(TGM5):c.1750T>C (p.Tyr584His)	Acral peeling skin syndrome [RCV001120496]	uncertain significance	15	43234894	43234894	Human	1	name
28874753	CV873541	single nucleotide variant	NM_201631.4(TGM5):c.1552A>G (p.Asn518Asp)	Acral peeling skin syndrome [RCV001115594]	uncertain significance	15	43235631	43235631	Human	1	name
8635462	CV90683	single nucleotide variant	NM_201631.3(TGM5):c.1651G>A (p.Asp551Asn)	Malignant melanoma [RCV000070781]	not provided	15	43235532	43235532	Human		name
150545161	CV1315451	deletion	NM_201631.4(TGM5):c.808_809del (p.Cys270fs)	Acral peeling skin syndrome [RCV001783868]	likely pathogenic	15	43252812	43252813	Human		name
408377482	CV3508042	insertion	NM_201631.4(TGM5):c.1981_1982insCT (p.Gly661fs)	TGM5-related disorder [RCV004751019]	uncertain significance	15	43233581	43233582	Human		name , trait , alternate_id
9681794	CV167433	indel	NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs)	Acral peeling skin syndrome [RCV000144915]	pathogenic	15	43234829	43234833	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message