Ung Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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390 records found for search term Ung

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28870487	CV869173	single nucleotide variant	NM_080911.3(UNG):c.*2C>A	Hyper-IgM syndrome type 5 [RCV001113585]	uncertain significance	12	109109971	109109971	Human	1	name
11604077	CV315876	single nucleotide variant	NM_080911.3(UNG):c.-51A>T	Hyper-IgM syndrome type 5 [RCV000305902]	uncertain significance	12	109097629	109097629	Human	1	name
11663046	CV330261	single nucleotide variant	NM_080911.3(UNG):c.-73C>T	Hyper-IgM syndrome type 5 [RCV000391677]	uncertain significance	12	109097607	109097607	Human	1	name
28873637	CV869166	single nucleotide variant	NM_080911.3(UNG):c.-51A>G	Hyper-IgM syndrome type 5 [RCV001115106]	uncertain significance	12	109097629	109097629	Human	1	name
28873640	CV869167	single nucleotide variant	NM_080911.3(UNG):c.-50G>A	Hyper-IgM syndrome type 5 [RCV001115107]	uncertain significance	12	109097630	109097630	Human	1	name
11661733	CV315888	duplication	NM_080911.3(UNG):c.*788dup	Hyperimmunoglobulin M syndrome [RCV001844117]	likely benign	12	109110749	109110750	Human	1	name
11648031	CV323026	single nucleotide variant	NM_080911.3(UNG):c.*159G>A	Hyper-IgM syndrome type 5 [RCV000279628]	uncertain significance	12	109110128	109110128	Human	1	name
11612359	CV323034	single nucleotide variant	NM_080911.3(UNG):c.*522A>G	Hyper-IgM syndrome type 5 [RCV000407340]	uncertain significance	12	109110491	109110491	Human	1	name
11609036	CV323036	single nucleotide variant	NM_080911.3(UNG):c.*545A>G	Hyper-IgM syndrome type 5 [RCV000362912]	uncertain significance	12	109110514	109110514	Human	1	name
11599338	CV323043	single nucleotide variant	NM_080911.3(UNG):c.*708T>C	Hyper-IgM syndrome type 5 [RCV000264692]	likely benign\|uncertain significance	12	109110677	109110677	Human	1	name
11609869	CV323044	single nucleotide variant	NM_080911.3(UNG):c.*880A>T	Hyper-IgM syndrome type 5 [RCV000373697]	uncertain significance	12	109110849	109110849	Human	1	name
11656887	CV329083	single nucleotide variant	NM_080911.3(UNG):c.*281C>T	Hyper-IgM syndrome type 5 [RCV000336984]	uncertain significance	12	109110250	109110250	Human	1	name
11618179	CV329092	single nucleotide variant	NM_080911.3(UNG):c.*463C>T	Hyper-IgM syndrome type 5 [RCV000311250]	likely benign\|uncertain significance	12	109110432	109110432	Human	1	name
11654161	CV329094	single nucleotide variant	NM_080911.3(UNG):c.*537G>A	Hyper-IgM syndrome type 5 [RCV000315261]	uncertain significance	12	109110506	109110506	Human	1	name
11617936	CV329096	single nucleotide variant	NM_080911.3(UNG):c.*655A>C	Hyper-IgM syndrome type 5 [RCV000309188]	uncertain significance	12	109110624	109110624	Human	1	name
11622952	CV329107	single nucleotide variant	NM_080911.3(UNG):c.*699T>C	Hyper-IgM syndrome type 5 [RCV000366239]	uncertain significance	12	109110668	109110668	Human	1	name
11620928	CV330267	single nucleotide variant	NM_080911.3(UNG):c.*109A>G	Hyper-IgM syndrome type 5 [RCV000342482]	uncertain significance	12	109110078	109110078	Human	1	name
11623347	CV330272	single nucleotide variant	NM_080911.3(UNG):c.*111A>T	Hyper-IgM syndrome type 5 [RCV000371536]	uncertain significance	12	109110080	109110080	Human	1	name
11664011	CV330276	single nucleotide variant	NM_080911.3(UNG):c.*313C>G	Hyper-IgM syndrome type 5 [RCV000401327]	uncertain significance	12	109110282	109110282	Human	1	name
11621564	CV330282	single nucleotide variant	NM_080911.3(UNG):c.*500C>G	Hyperimmunoglobulin M syndrome [RCV001844116]	uncertain significance	12	109110469	109110469	Human	1	name
11646398	CV330283	single nucleotide variant	NM_080911.3(UNG):c.*611C>T	Hyper-IgM syndrome type 5 [RCV000270439]	uncertain significance	12	109110580	109110580	Human	1	name
11655022	CV330291	single nucleotide variant	NM_080911.3(UNG):c.*719G>A	Hyper-IgM syndrome type 5 [RCV000322389]	uncertain significance	12	109110688	109110688	Human	1	name
28870490	CV869174	single nucleotide variant	NM_080911.3(UNG):c.*129C>T	Hyper-IgM syndrome type 5 [RCV001113586]	uncertain significance	12	109110098	109110098	Human	1	name
28870494	CV869175	single nucleotide variant	NM_080911.3(UNG):c.*376C>G	Hyper-IgM syndrome type 5 [RCV001113587]	uncertain significance	12	109110345	109110345	Human	1	name
28910881	CV869176	single nucleotide variant	NM_080911.3(UNG):c.*445C>T	Hyper-IgM syndrome type 5 [RCV001109581]	uncertain significance	12	109110414	109110414	Human	1	name
28910882	CV869177	single nucleotide variant	NM_080911.3(UNG):c.*573G>C	Hyper-IgM syndrome type 5 [RCV001109582]	uncertain significance	12	109110542	109110542	Human	1	name
28867502	CV869178	single nucleotide variant	NM_080911.3(UNG):c.*705T>C	Hyper-IgM syndrome type 5 [RCV001111857]	uncertain significance	12	109110674	109110674	Human	1	name
28867505	CV869179	single nucleotide variant	NM_080911.3(UNG):c.*858T>G	Hyper-IgM syndrome type 5 [RCV001111858]	uncertain significance	12	109110827	109110827	Human	1	name
126775076	CV1030632	single nucleotide variant	NM_080911.3(UNG):c.802-8T>A	Hyper-IgM syndrome type 5 [RCV001347963]	uncertain significance	12	109109821	109109821	Human	1	name
127278842	CV1079072	single nucleotide variant	NM_080911.3(UNG):c.133-7C>T	Hyper-IgM syndrome type 5 [RCV001408758]	likely benign	12	109098425	109098425	Human	1	name
127314686	CV1122264	single nucleotide variant	NM_080911.3(UNG):c.622+9G>T	Hyper-IgM syndrome type 5 [RCV001457774]	likely benign	12	109102936	109102936	Human	1	name
151724507	CV1439987	single nucleotide variant	NM_080911.3(UNG):c.623-2A>G	Hyper-IgM syndrome type 5 [RCV002040511]	likely pathogenic	12	109103431	109103431	Human	1	name
151728660	CV1444468	single nucleotide variant	NM_080911.3(UNG):c.801+5G>A	Hyper-IgM syndrome type 5 [RCV001945816]	uncertain significance	12	109103616	109103616	Human	1	name
156299741	CV2075820	single nucleotide variant	NM_080911.3(UNG):c.133-8A>C	Hyper-IgM syndrome type 5 [RCV002857110]	likely benign	12	109098424	109098424	Human	1	name
155977038	CV2151252	single nucleotide variant	NM_080911.3(UNG):c.622+6C>G	Hyper-IgM syndrome type 5 [RCV003033699]	uncertain significance	12	109102933	109102933	Human	1	name
404996576	CV2892401	single nucleotide variant	NM_080911.3(UNG):c.132+1G>A	Hyper-IgM syndrome type 5 [RCV003513396]	likely pathogenic	12	109097812	109097812	Human	1	name
402473016	CV2945762	single nucleotide variant	NM_080911.3(UNG):c.133-2A>G	Hyper-IgM syndrome type 5 [RCV003624665]	likely pathogenic	12	109098430	109098430	Human	1	name
402481401	CV3019995	single nucleotide variant	NM_080911.3(UNG):c.802-9C>T	Hyper-IgM syndrome type 5 [RCV003626099]	likely benign	12	109109820	109109820	Human	1	name
405184327	CV3124108	single nucleotide variant	NM_080911.3(UNG):c.435+9A>G	Hyper-IgM syndrome type 5 [RCV003820304]	likely benign	12	109099293	109099293	Human	1	name
405233713	CV3145024	single nucleotide variant	NM_080911.3(UNG):c.623-9T>C	Hyper-IgM syndrome type 5 [RCV003853281]	likely benign	12	109103424	109103424	Human	1	name
11600322	CV315878	single nucleotide variant	NM_080911.3(UNG):c.623-9T>A	Hyper-IgM syndrome type 5 [RCV001044991]	uncertain significance	12	109103424	109103424	Human	1	name
11619566	CV329059	single nucleotide variant	NM_080911.3(UNG):c.533+6G>A	Hyper-IgM syndrome type 5 [RCV000625198]\|UNG-related disorder [RCV003977892]\|not provided [RCV003992268]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109102005	109102005	Human	1	name , trait , alternate_id
11620623	CV329111	single nucleotide variant	NM_080911.3(UNG):c.*1018A>G	Hyper-IgM syndrome type 5 [RCV000338933]	uncertain significance	12	109110987	109110987	Human	1	name
11614978	CV330299	single nucleotide variant	NM_080911.3(UNG):c.*1013T>A	Hyper-IgM syndrome type 5 [RCV000281414]	benign\|likely benign	12	109110982	109110982	Human	1	name
408383748	CV3525826	single nucleotide variant	NM_080911.3(UNG):c.339+6T>C	not specified [RCV004766736]	uncertain significance	12	109098644	109098644	Human		name
14707216	CV652201	single nucleotide variant	NM_080911.3(UNG):c.802-6T>C	Hyper-IgM syndrome type 5 [RCV000792257]	uncertain significance	12	109109823	109109823	Human	1	name
15115971	CV775961	single nucleotide variant	NM_080911.3(UNG):c.436-5C>T	not provided [RCV000939583]	likely benign	12	109101897	109101897	Human		name
38495723	CV960020	single nucleotide variant	NM_080911.3(UNG):c.340-3C>T	Hyper-IgM syndrome type 5 [RCV001225908]	uncertain significance	12	109099186	109099186	Human	1	name
127267652	CV1079073	single nucleotide variant	NM_080911.3(UNG):c.339+15G>A	Hyper-IgM syndrome type 5 [RCV001404168]	likely benign	12	109098653	109098653	Human	1	name
150469951	CV1219159	single nucleotide variant	NM_080911.3(UNG):c.623-67T>C	not provided [RCV001614911]	benign	12	109103366	109103366	Human		name
150497448	CV1219408	single nucleotide variant	NM_080911.3(UNG):c.802-47T>A	not provided [RCV001620077]	benign	12	109109782	109109782	Human		name
150436594	CV1220571	single nucleotide variant	NM_080911.3(UNG):c.802-48A>T	not provided [RCV001609555]	benign	12	109109781	109109781	Human		name
150457204	CV1237042	duplication	NM_080911.3(UNG):c.622+42dup	not provided [RCV001648721]	benign	12	109102947	109102948	Human		name
150501857	CV1241056	duplication	NM_080911.3(UNG):c.534-25dup	not provided [RCV001656952]\|not specified [RCV003487612]	benign	12	109102808	109102809	Human		name
152117464	CV1524178	duplication	NM_080911.3(UNG):c.801+27dup	Hyper-IgM syndrome type 5 [RCV002135276]	benign	12	109103630	109103631	Human	1	name
152042355	CV1537958	single nucleotide variant	NM_080911.3(UNG):c.802-20T>G	Hyper-IgM syndrome type 5 [RCV002165855]	likely benign	12	109109809	109109809	Human	1	name
152063046	CV1542196	single nucleotide variant	NM_080911.3(UNG):c.622+16C>T	Hyper-IgM syndrome type 5 [RCV002208931]	likely benign	12	109102943	109102943	Human	1	name
152079607	CV1550006	single nucleotide variant	NM_080911.3(UNG):c.533+18G>A	Hyper-IgM syndrome type 5 [RCV002192857]	likely benign	12	109102017	109102017	Human	1	name
152133083	CV1557413	single nucleotide variant	NM_080911.3(UNG):c.436-19G>A	Hyper-IgM syndrome type 5 [RCV002137188]	likely benign	12	109101883	109101883	Human	1	name
152135282	CV1560333	single nucleotide variant	NM_080911.3(UNG):c.533+15C>G	Hyper-IgM syndrome type 5 [RCV002137454]	likely benign	12	109102014	109102014	Human	1	name
152152207	CV1572492	single nucleotide variant	NM_080911.3(UNG):c.801+14T>C	Hyper-IgM syndrome type 5 [RCV002139689]	likely benign	12	109103625	109103625	Human	1	name
152132160	CV1585035	single nucleotide variant	NM_080911.3(UNG):c.339+11A>C	Hyper-IgM syndrome type 5 [RCV002083009]\|not provided [RCV004704712]	likely benign	12	109098649	109098649	Human	1	name
152136352	CV1587836	single nucleotide variant	NM_080911.3(UNG):c.340-20C>T	Hyper-IgM syndrome type 5 [RCV002083556]	likely benign	12	109099169	109099169	Human	1	name
152118637	CV1593515	single nucleotide variant	NM_080911.3(UNG):c.623-13C>G	Hyper-IgM syndrome type 5 [RCV002097841]	likely benign	12	109103420	109103420	Human	1	name
152120069	CV1612227	single nucleotide variant	NM_080911.3(UNG):c.435+15T>C	Hyper-IgM syndrome type 5 [RCV002135597]	likely benign	12	109099299	109099299	Human	1	name
152168955	CV1614011	single nucleotide variant	NM_080911.3(UNG):c.533+17G>T	Hyper-IgM syndrome type 5 [RCV002161287]	likely benign	12	109102016	109102016	Human	1	name
152165175	CV1649015	single nucleotide variant	NM_080911.3(UNG):c.534-14T>C	Hyper-IgM syndrome type 5 [RCV002204187]	likely benign	12	109102825	109102825	Human	1	name
152147415	CV1656137	single nucleotide variant	NM_080911.3(UNG):c.132+16G>T	Hyper-IgM syndrome type 5 [RCV002220265]	likely benign	12	109097827	109097827	Human	1	name
152090786	CV1662023	single nucleotide variant	NM_080911.3(UNG):c.339+17A>C	Hyper-IgM syndrome type 5 [RCV002132017]	benign	12	109098655	109098655	Human	1	name
152054633	CV1665470	single nucleotide variant	NM_080911.3(UNG):c.132+14T>G	Hyper-IgM syndrome type 5 [RCV002089557]	likely benign	12	109097825	109097825	Human	1	name
155268772	CV1705599	deletion	NM_080911.3(UNG):c.802-48del	not provided [RCV002286206]	likely benign	12	109109764	109109764	Human		name
156269881	CV1870645	single nucleotide variant	NM_080911.3(UNG):c.435+11C>T	Hyper-IgM syndrome type 5 [RCV003060675]	likely benign	12	109099295	109099295	Human	1	name
156400193	CV1897531	single nucleotide variant	NM_080911.3(UNG):c.623-11C>G	Hyper-IgM syndrome type 5 [RCV002584791]	likely benign	12	109103422	109103422	Human	1	name
156080054	CV1959852	single nucleotide variant	NM_080911.3(UNG):c.801+18T>C	Hyper-IgM syndrome type 5 [RCV002569880]	likely benign	12	109103629	109103629	Human	1	name
156315086	CV2017932	single nucleotide variant	NM_080911.3(UNG):c.132+19C>T	Hyper-IgM syndrome type 5 [RCV002671855]	likely benign	12	109097830	109097830	Human	1	name
155962905	CV2037827	single nucleotide variant	NM_080911.3(UNG):c.339+18C>T	Hyper-IgM syndrome type 5 [RCV002776357]	likely benign	12	109098656	109098656	Human	1	name
156000502	CV2045531	single nucleotide variant	NM_080911.3(UNG):c.622+11G>A	Hyper-IgM syndrome type 5 [RCV002756178]	likely benign	12	109102938	109102938	Human	1	name
402473178	CV2960124	single nucleotide variant	NM_080911.3(UNG):c.622+19G>C	Hyper-IgM syndrome type 5 [RCV003624701]	likely benign	12	109102946	109102946	Human	1	name
402480499	CV3017004	single nucleotide variant	NM_080911.3(UNG):c.339+13A>G	Hyper-IgM syndrome type 5 [RCV003625923]	likely benign	12	109098651	109098651	Human	1	name
402474748	CV3074712	single nucleotide variant	NM_080911.3(UNG):c.622+20A>T	Hyper-IgM syndrome type 5 [RCV003625054]	likely benign	12	109102947	109102947	Human	1	name
405172732	CV3122863	single nucleotide variant	NM_080911.3(UNG):c.133-19C>T	Hyper-IgM syndrome type 5 [RCV003819261]	likely benign	12	109098413	109098413	Human	1	name
405161599	CV3125063	single nucleotide variant	NM_080911.3(UNG):c.623-15C>A	Hyper-IgM syndrome type 5 [RCV003818334]	likely benign	12	109103418	109103418	Human	1	name
405052554	CV3138306	single nucleotide variant	NM_080911.3(UNG):c.801+16T>C	Hyper-IgM syndrome type 5 [RCV003832150]	likely benign	12	109103627	109103627	Human	1	name
402466417	CV3173571	single nucleotide variant	NM_080911.3(UNG):c.802-12G>C	Hyper-IgM syndrome type 5 [RCV003873045]	likely benign	12	109109817	109109817	Human	1	name
404992484	CV3183875	single nucleotide variant	NM_080911.3(UNG):c.802-15C>A	Hyper-IgM syndrome type 5 [RCV003881648]	likely benign	12	109109814	109109814	Human	1	name
11623274	CV329058	single nucleotide variant	NM_080911.3(UNG):c.435+15T>A	Hyper-IgM syndrome type 5 [RCV000370574]	conflicting interpretations of pathogenicity\|uncertain significance	12	109099299	109099299	Human	1	name
11654338	CV329110	microsatellite	NM_080911.3(UNG):c.*866AT[5]	Hyperimmunoglobulin M syndrome [RCV001844119]	uncertain significance	12	109110835	109110840	Human		name
11613425	CV330295	microsatellite	NM_080911.3(UNG):c.*866AT[9]	Hyperimmunoglobulin M syndrome [RCV001844118]	likely benign	12	109110834	109110835	Human		name
597875330	CV3743814	single nucleotide variant	NM_080911.3(UNG):c.802-18A>G	Hyper-IgM syndrome type 5 [RCV005069220]	likely benign	12	109109811	109109811	Human	1	name
597953056	CV3843892	single nucleotide variant	NM_080911.3(UNG):c.623-15C>T	Hyper-IgM syndrome type 5 [RCV005190754]	likely benign	12	109103418	109103418	Human	1	name
597888461	CV3859505	duplication	NM_080911.3(UNG):c.622+18dup	Hyper-IgM syndrome type 5 [RCV005200161]	likely benign	12	109102944	109102945	Human	1	name
28868074	CV872185	single nucleotide variant	NM_080911.3(UNG):c.622+10C>T	Hyper-IgM syndrome type 5 [RCV001112233]	benign\|likely benign	12	109102937	109102937	Human	1	name
150459111	CV1236046	single nucleotide variant	NM_080911.3(UNG):c.132+193A>G	not provided [RCV001649017]	benign	12	109098004	109098004	Human		name
150494993	CV1241495	single nucleotide variant	NM_080911.3(UNG):c.133-221C>T	not provided [RCV001655502]	benign	12	109098211	109098211	Human		name
150469928	CV1247903	single nucleotide variant	NM_080911.3(UNG):c.132+241T>A	not provided [RCV001670939]	benign	12	109098052	109098052	Human		name
150461064	CV1253195	single nucleotide variant	NM_080911.3(UNG):c.339+116A>C	not provided [RCV001669524]	benign	12	109098754	109098754	Human		name
405275445	CV3204780	single nucleotide variant	NM_080911.3(UNG):c.133-110C>T	UNG-related disorder [RCV003952159]	likely benign	12	109098322	109098322	Human		name , trait , alternate_id
8603070	CV45554	deletion	NM_080911.3(UNG):c.70_71del	not specified [RCV002281722]	uncertain significance	12	109110037	109110038	Human		name
11658980	CV323016	single nucleotide variant	NM_080911.3(UNG):c.6C>A (p.Ile2=)	Hyper-IgM syndrome type 5 [RCV000353520]	uncertain significance	12	109097685	109097685	Human	1	name
402470678	CV3033657	deletion	NM_080911.3(UNG):c.623-10_623-9del	Hyper-IgM syndrome type 5 [RCV003624040]	likely benign	12	109103423	109103424	Human	1	name
127318879	CV1122261	single nucleotide variant	NM_080911.3(UNG):c.36C>T (p.Ser12=)	Hyper-IgM syndrome type 5 [RCV001466389]	likely benign	12	109097715	109097715	Human	1	name
127320163	CV1156892	deletion	NM_080911.3(UNG):c.801+24_801+27del	Hyper-IgM syndrome type 5 [RCV001522495]	benign	12	109103631	109103634	Human	1	name
150504960	CV1211502	duplication	NM_080911.3(UNG):c.802-53_802-48dup	not provided [RCV001595667]	benign	12	109109763	109109764	Human		name
151709314	CV1409191	single nucleotide variant	NM_080911.3(UNG):c.90G>T (p.Gly30=)	Hyper-IgM syndrome type 5 [RCV001907650]\|not specified [RCV005238020]	likely benign\|uncertain significance	12	109097769	109097769	Human	1	name
156295368	CV1995276	single nucleotide variant	NM_080911.3(UNG):c.90G>A (p.Gly30=)	Hyper-IgM syndrome type 5 [RCV002670930]	likely benign	12	109097769	109097769	Human	1	name
156120616	CV2013762	microsatellite	NM_080911.3(UNG):c.801+19_801+22del	Hyper-IgM syndrome type 5 [RCV002740182]	likely benign	12	109103623	109103626	Human		name
401917475	CV2829876	duplication	NM_080911.3(UNG):c.802-51_802-48dup	not provided [RCV003443920]	likely benign	12	109109763	109109764	Human		name
404986075	CV2854415	single nucleotide variant	NM_080911.3(UNG):c.60C>T (p.His20=)	Hyper-IgM syndrome type 5 [RCV003512298]	likely benign	12	109097739	109097739	Human	1	name
405092761	CV3118840	duplication	NM_080911.3(UNG):c.133-13_133-10dup	Hyper-IgM syndrome type 5 [RCV003811291]	likely benign	12	109098418	109098419	Human	1	name
11624877	CV329045	single nucleotide variant	NM_080911.3(UNG):c.81C>A (p.Ala27=)	Hyper-IgM syndrome type 5 [RCV000391668]	conflicting interpretations of pathogenicity\|uncertain significance	12	109097760	109097760	Human	1	name
597868314	CV3742909	deletion	NM_080911.3(UNG):c.801+19_801+21del	Hyper-IgM syndrome type 5 [RCV005068332]	likely benign	12	109103628	109103630	Human	1	name
28873643	CV869168	single nucleotide variant	NM_080911.3(UNG):c.36C>A (p.Ser12=)	Hyper-IgM syndrome type 5 [RCV001115108]	conflicting interpretations of pathogenicity\|uncertain significance	12	109097715	109097715	Human	1	name
126910159	CV1047645	single nucleotide variant	NM_080911.3(UNG):c.14A>G (p.Lys5Arg)	Hyper-IgM syndrome type 5 [RCV001368796]	uncertain significance	12	109097693	109097693	Human	1	name
127270168	CV1100810	single nucleotide variant	NM_080911.3(UNG):c.126T>C (p.Asp42=)	Hyper-IgM syndrome type 5 [RCV001430525]	likely benign	12	109097805	109097805	Human	1	name
127305940	CV1122262	single nucleotide variant	NM_080911.3(UNG):c.186C>T (p.Pro62=)	Hyper-IgM syndrome type 5 [RCV001455361]	likely benign	12	109098485	109098485	Human	1	name
152128317	CV1581345	single nucleotide variant	NM_080911.3(UNG):c.120C>T (p.Ser40=)	Hyper-IgM syndrome type 5 [RCV002099136]	likely benign	12	109097799	109097799	Human	1	name
152091126	CV1602810	single nucleotide variant	NM_080911.3(UNG):c.273C>G (p.Pro91=)	Hyper-IgM syndrome type 5 [RCV002194312]	likely benign	12	109098572	109098572	Human	1	name
152080371	CV1620716	single nucleotide variant	NM_080911.3(UNG):c.267C>T (p.Asn89=)	Hyper-IgM syndrome type 5 [RCV002112666]	likely benign	12	109098566	109098566	Human	1	name
152073755	CV1657653	single nucleotide variant	NM_080911.3(UNG):c.153C>G (p.Ala51=)	Hyper-IgM syndrome type 5 [RCV002210319]	likely benign	12	109098452	109098452	Human	1	name
153303904	CV1686514	single nucleotide variant	NM_080911.3(UNG):c.16A>G (p.Thr6Ala)	not provided [RCV002261948]	uncertain significance	12	109097695	109097695	Human		name
156004513	CV1906267	single nucleotide variant	NM_080911.3(UNG):c.105G>A (p.Gly35=)	Hyper-IgM syndrome type 5 [RCV003098961]	likely benign	12	109097784	109097784	Human	1	name
156439082	CV1943950	single nucleotide variant	NM_080911.3(UNG):c.141A>G (p.Pro47=)	Hyper-IgM syndrome type 5 [RCV003109035]	likely benign	12	109098440	109098440	Human	1	name
156108254	CV2140017	deletion	NM_080911.3(UNG):c.39del (p.Ser14fs)	Hyper-IgM syndrome type 5 [RCV003002484]	pathogenic	12	109097714	109097714	Human	1	name
156365530	CV2192180	single nucleotide variant	NM_080911.3(UNG):c.273C>T (p.Pro91=)	Hyper-IgM syndrome type 5 [RCV003065926]	likely benign	12	109098572	109098572	Human	1	name
404989143	CV2932063	single nucleotide variant	NM_080911.3(UNG):c.129G>A (p.Ala43=)	Hyper-IgM syndrome type 5 [RCV003512623]	likely benign	12	109097808	109097808	Human	1	name
402480846	CV3022913	single nucleotide variant	NM_080911.3(UNG):c.138C>A (p.Ile46=)	Hyper-IgM syndrome type 5 [RCV003626032]	likely benign	12	109098437	109098437	Human	1	name
402471672	CV3057356	single nucleotide variant	NM_080911.3(UNG):c.237C>T (p.Ala79=)	Hyper-IgM syndrome type 5 [RCV003624303]	likely benign	12	109098536	109098536	Human	1	name
402471677	CV3057361	single nucleotide variant	NM_080911.3(UNG):c.168G>A (p.Glu56=)	Hyper-IgM syndrome type 5 [RCV003624304]	likely benign	12	109098467	109098467	Human	1	name
405211013	CV3117749	single nucleotide variant	NM_080911.3(UNG):c.135C>T (p.Ala45=)	Hyper-IgM syndrome type 5 [RCV003823348]	likely benign	12	109098434	109098434	Human	1	name
405131495	CV3163720	single nucleotide variant	NM_080911.3(UNG):c.189C>G (p.Ser63=)	Hyper-IgM syndrome type 5 [RCV003854708]	likely benign	12	109098488	109098488	Human	1	name
11622179	CV329053	single nucleotide variant	NM_080911.3(UNG):c.204C>G (p.Ala68=)	Hyper-IgM syndrome type 5 [RCV000357072]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109098503	109098503	Human	1	name
11614193	CV330262	single nucleotide variant	NM_080911.3(UNG):c.204C>T (p.Ala68=)	Hyper-IgM syndrome type 5 [RCV000274915]	uncertain significance	12	109098503	109098503	Human	1	name
597842550	CV3831041	single nucleotide variant	NM_080911.3(UNG):c.102T>C (p.Ala34=)	Hyper-IgM syndrome type 5 [RCV005172422]	likely benign	12	109097781	109097781	Human	1	name
597963063	CV3841363	single nucleotide variant	NM_080911.3(UNG):c.159T>C (p.Ala53=)	Hyper-IgM syndrome type 5 [RCV005193466]	likely benign	12	109098458	109098458	Human	1	name
597950930	CV3847003	single nucleotide variant	NM_080911.3(UNG):c.150G>A (p.Lys50=)	Hyper-IgM syndrome type 5 [RCV005190174]	likely benign	12	109098449	109098449	Human	1	name
8603071	CV45555	single nucleotide variant	NM_080911.3(UNG):c.246G>C (p.Leu82=)	Hyper-IgM syndrome type 5 [RCV000030577]\|not provided [RCV001705610]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	109098545	109098545	Human	1	name
13473997	CV462161	single nucleotide variant	NM_080911.3(UNG):c.291C>T (p.Ser97=)	Hyper-IgM syndrome type 5 [RCV000525628]\|not provided [RCV004707325]	benign	12	109098590	109098590	Human	1	name
15170048	CV713314	single nucleotide variant	NM_080911.3(UNG):c.183G>A (p.Pro61=)	Hyper-IgM syndrome type 5 [RCV000971936]\|UNG-related disorder [RCV003972930]\|not provided [RCV001702575]	likely benign\|conflicting interpretations of pathogenicity	12	109098482	109098482	Human	1	name , trait , alternate_id
15176862	CV768873	single nucleotide variant	NM_080911.3(UNG):c.285A>G (p.Gly95=)	Hyper-IgM syndrome type 5 [RCV000929016]	likely benign	12	109098584	109098584	Human	1	name
127237936	CV1079074	single nucleotide variant	NM_080911.3(UNG):c.513G>A (p.Arg171=)	Hyper-IgM syndrome type 5 [RCV001397236]	likely benign	12	109101979	109101979	Human	1	name
127237349	CV1079075	single nucleotide variant	NM_080911.3(UNG):c.522G>A (p.Pro174=)	Hyper-IgM syndrome type 5 [RCV001414891]	likely benign	12	109101988	109101988	Human	1	name
127273694	CV1079076	single nucleotide variant	NM_080911.3(UNG):c.681G>A (p.Lys227=)	Hyper-IgM syndrome type 5 [RCV001406141]	likely benign	12	109103491	109103491	Human	1	name
127239885	CV1079077	single nucleotide variant	NM_080911.3(UNG):c.738G>T (p.Ser246=)	Hyper-IgM syndrome type 5 [RCV001415454]	likely benign	12	109103548	109103548	Human	1	name
127283356	CV1079078	single nucleotide variant	NM_080911.3(UNG):c.906G>A (p.Lys302=)	Hyper-IgM syndrome type 5 [RCV001411733]\|UNG-related disorder [RCV003938702]	likely benign	12	109109933	109109933	Human	1	name , trait , alternate_id
127242706	CV1100811	single nucleotide variant	NM_080911.3(UNG):c.633T>C (p.Leu211=)	Hyper-IgM syndrome type 5 [RCV001423799]	likely benign	12	109103443	109103443	Human	1	name
127269765	CV1100812	single nucleotide variant	NM_080911.3(UNG):c.744C>G (p.Gly248=)	Hyper-IgM syndrome type 5 [RCV001430361]	likely benign	12	109103554	109103554	Human	1	name
127316456	CV1122263	single nucleotide variant	NM_080911.3(UNG):c.471T>C (p.His157=)	Hyper-IgM syndrome type 5 [RCV001465546]	likely benign	12	109101937	109101937	Human	1	name
151720951	CV1396789	single nucleotide variant	NM_080911.3(UNG):c.399A>G (p.Gln133=)	Hyper-IgM syndrome type 5 [RCV001891090]	uncertain significance	12	109099248	109099248	Human	1	name
151744179	CV1427987	single nucleotide variant	NM_080911.3(UNG):c.76C>T (p.Pro26Ser)	Hyper-IgM syndrome type 5 [RCV001926775]	uncertain significance	12	109097755	109097755	Human	1	name
151738520	CV1437427	single nucleotide variant	NM_080911.3(UNG):c.62C>T (p.Ala21Val)	Hyper-IgM syndrome type 5 [RCV001870777]	uncertain significance	12	109097741	109097741	Human	1	name
151854047	CV1453447	single nucleotide variant	NM_080911.3(UNG):c.34T>A (p.Ser12Thr)	Hyper-IgM syndrome type 5 [RCV001883111]	uncertain significance	12	109097713	109097713	Human	1	name
152162456	CV1535050	single nucleotide variant	NM_080911.3(UNG):c.771T>C (p.Tyr257=)	Hyper-IgM syndrome type 5 [RCV002141153]	likely benign	12	109103581	109103581	Human	1	name
152161990	CV1543846	single nucleotide variant	NM_080911.3(UNG):c.639C>T (p.Asn213=)	Hyper-IgM syndrome type 5 [RCV002159801]	likely benign	12	109103449	109103449	Human	1	name
152052535	CV1607258	single nucleotide variant	NM_080911.3(UNG):c.696G>A (p.Glu232=)	Hyper-IgM syndrome type 5 [RCV002109157]	likely benign	12	109103506	109103506	Human	1	name
152115089	CV1628159	single nucleotide variant	NM_080911.3(UNG):c.408C>T (p.Thr136=)	Hyper-IgM syndrome type 5 [RCV002197289]	likely benign	12	109099257	109099257	Human	1	name
152040357	CV1640051	single nucleotide variant	NM_080911.3(UNG):c.486T>C (p.Ala162=)	Hyper-IgM syndrome type 5 [RCV002087869]	likely benign	12	109101952	109101952	Human	1	name
156379211	CV1876842	single nucleotide variant	NM_080911.3(UNG):c.489C>T (p.His163=)	Hyper-IgM syndrome type 5 [RCV003067022]	likely benign	12	109101955	109101955	Human	1	name
155987972	CV2026739	single nucleotide variant	NM_080911.3(UNG):c.77C>A (p.Pro26Gln)	Hyper-IgM syndrome type 5 [RCV002755624]	uncertain significance	12	109097756	109097756	Human	1	name
156100636	CV2107351	duplication	NM_080911.3(UNG):c.250dup (p.Arg84fs)	Hyper-IgM syndrome type 5 [RCV002927038]	pathogenic	12	109098548	109098549	Human	1	name
155993053	CV2125952	deletion	NM_080911.3(UNG):c.162del (p.Gln55fs)	Hyper-IgM syndrome type 5 [RCV002974821]	pathogenic	12	109098459	109098459	Human	1	name
156342273	CV2127678	single nucleotide variant	NM_080911.3(UNG):c.495C>T (p.Leu165=)	Hyper-IgM syndrome type 5 [RCV002938961]	likely benign	12	109101961	109101961	Human	1	name
155946592	CV2130274	single nucleotide variant	NM_080911.3(UNG):c.895C>T (p.Leu299=)	Hyper-IgM syndrome type 5 [RCV002971616]	likely benign	12	109109922	109109922	Human	1	name
156052838	CV2165354	single nucleotide variant	NM_080911.3(UNG):c.324A>G (p.Lys108=)	Hyper-IgM syndrome type 5 [RCV003019456]	likely benign	12	109098623	109098623	Human	1	name
156192723	CV2171327	single nucleotide variant	NM_080911.3(UNG):c.924T>A (p.Ile308=)	Hyper-IgM syndrome type 5 [RCV003024186]\|not specified [RCV005239605]	likely benign	12	109109951	109109951	Human	1	name
402475185	CV2971855	single nucleotide variant	NM_080911.3(UNG):c.654T>C (p.Val218=)	Hyper-IgM syndrome type 5 [RCV003625139]	likely benign	12	109103464	109103464	Human	1	name
402471230	CV3052195	single nucleotide variant	NM_080911.3(UNG):c.312G>C (p.Gly104=)	Hyper-IgM syndrome type 5 [RCV003624191]	likely benign	12	109098611	109098611	Human	1	name
405191476	CV3118129	single nucleotide variant	NM_080911.3(UNG):c.303C>T (p.His101=)	Hyper-IgM syndrome type 5 [RCV003821039]	likely benign	12	109098602	109098602	Human	1	name
405184038	CV3124131	single nucleotide variant	NM_080911.3(UNG):c.519T>C (p.Val173=)	Hyper-IgM syndrome type 5 [RCV003820328]	likely benign	12	109101985	109101985	Human	1	name
405058845	CV3129369	single nucleotide variant	NM_080911.3(UNG):c.783G>A (p.Lys261=)	Hyper-IgM syndrome type 5 [RCV003832638]	likely benign	12	109103593	109103593	Human	1	name
11599876	CV323023	single nucleotide variant	NM_080911.3(UNG):c.528G>A (p.Pro176=)	Hyper-IgM syndrome type 5 [RCV000540196]\|not provided [RCV003391079]\|not specified [RCV005238878]	benign\|uncertain significance	12	109101994	109101994	Human	1	name
11605540	CV323024	single nucleotide variant	NM_080911.3(UNG):c.660C>T (p.Ala220=)	Hyper-IgM syndrome type 5 [RCV000320800]	uncertain significance	12	109103470	109103470	Human	1	name
11623802	CV330263	single nucleotide variant	NM_080911.3(UNG):c.759C>G (p.Leu253=)	Hyper-IgM syndrome type 5 [RCV000555072]\|not provided [RCV004708220]	benign\|likely benign	12	109103569	109103569	Human	1	name
597968638	CV3761180	single nucleotide variant	NM_080911.3(UNG):c.35C>T (p.Ser12Phe)	Hyper-IgM syndrome type 5 [RCV005083567]	uncertain significance	12	109097714	109097714	Human	1	name
597937596	CV3774720	single nucleotide variant	NM_080911.3(UNG):c.888C>G (p.Thr296=)	Hyper-IgM syndrome type 5 [RCV005117753]	likely benign	12	109109915	109109915	Human	1	name
597942268	CV3779872	single nucleotide variant	NM_080911.3(UNG):c.858G>A (p.Gly286=)	Hyper-IgM syndrome type 5 [RCV005118881]	likely benign	12	109109885	109109885	Human	1	name
597971978	CV3798963	single nucleotide variant	NM_080911.3(UNG):c.402C>T (p.Val134=)	Hyper-IgM syndrome type 5 [RCV005142375]	likely benign	12	109099251	109099251	Human	1	name
597914676	CV3851167	single nucleotide variant	NM_080911.3(UNG):c.888C>T (p.Thr296=)	Hyper-IgM syndrome type 5 [RCV005204135]	likely benign	12	109109915	109109915	Human	1	name
597903282	CV3851532	single nucleotide variant	NM_080911.3(UNG):c.558G>A (p.Leu186=)	Hyper-IgM syndrome type 5 [RCV005202309]	likely benign	12	109102863	109102863	Human	1	name
8603072	CV45556	single nucleotide variant	NM_080911.3(UNG):c.732G>A (p.Gln244=)	Hyper-IgM syndrome type 5 [RCV000030578]	likely benign	12	109103542	109103542	Human	1	name
13821258	CV565032	single nucleotide variant	NM_080911.3(UNG):c.651G>A (p.Thr217=)	Hyper-IgM syndrome type 5 [RCV000695630]\|UNG-related disorder [RCV003980314]	likely benign\|uncertain significance	12	109103461	109103461	Human	1	name , trait , alternate_id
14722367	CV640589	single nucleotide variant	NM_080911.3(UNG):c.61G>A (p.Ala21Thr)	Hyper-IgM syndrome type 5 [RCV000797528]\|not specified [RCV004027600]	uncertain significance	12	109097740	109097740	Human	1	name
15120925	CV753070	single nucleotide variant	NM_080911.3(UNG):c.738G>A (p.Ser246=)	Hyper-IgM syndrome type 5 [RCV000918396]	likely benign	12	109103548	109103548	Human	1	name
15128913	CV768874	single nucleotide variant	NM_080911.3(UNG):c.825G>A (p.Thr275=)	Hyper-IgM syndrome type 5 [RCV001112236]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109109852	109109852	Human	1	name
15121239	CV784260	single nucleotide variant	NM_080911.3(UNG):c.819A>G (p.Leu273=)	Hyper-IgM syndrome type 5 [RCV001506327]	likely benign	12	109109846	109109846	Human	1	name
28910792	CV869169	single nucleotide variant	NM_080911.3(UNG):c.65C>T (p.Pro22Leu)	Hyper-IgM syndrome type 5 [RCV001109467]	uncertain significance	12	109097744	109097744	Human	1	name
28910793	CV869170	single nucleotide variant	NM_080911.3(UNG):c.86A>C (p.Gln29Pro)	Hyper-IgM syndrome type 5 [RCV001109468]	uncertain significance	12	109097765	109097765	Human	1	name
38481952	CV926451	single nucleotide variant	NM_080911.3(UNG):c.32T>C (p.Phe11Ser)	Hyper-IgM syndrome type 5 [RCV001218242]\|not specified [RCV004034062]	uncertain significance	12	109097711	109097711	Human	1	name
126744384	CV1010086	single nucleotide variant	NM_080911.3(UNG):c.173C>T (p.Pro58Leu)	Hyper-IgM syndrome type 5 [RCV001314932]\|not specified [RCV004034333]	uncertain significance	12	109098472	109098472	Human	1	name
126921664	CV1047646	single nucleotide variant	NM_080911.3(UNG):c.155C>G (p.Pro52Arg)	Hyper-IgM syndrome type 5 [RCV001363752]	uncertain significance	12	109098454	109098454	Human	1	name
126920524	CV1047647	single nucleotide variant	NM_080911.3(UNG):c.191C>G (p.Ser64Trp)	Hyper-IgM syndrome type 5 [RCV001373856]	uncertain significance	12	109098490	109098490	Human	1	name
126921269	CV1047648	single nucleotide variant	NM_080911.3(UNG):c.268G>C (p.Val90Leu)	Hyper-IgM syndrome type 5 [RCV001363379]\|not specified [RCV004036880]	uncertain significance	12	109098567	109098567	Human	1	name
126908867	CV1047649	single nucleotide variant	NM_080911.3(UNG):c.271C>G (p.Pro91Ala)	Hyper-IgM syndrome type 5 [RCV001368132]	uncertain significance	12	109098570	109098570	Human	1	name
150471563	CV1259140	insertion	NM_080911.3(UNG):c.802-48_802-47insAAT	not provided [RCV001684385]	benign	12	109109781	109109782	Human		name
150551980	CV1300797	duplication	NM_080911.3(UNG):c.799dup (p.Arg267fs)	not provided [RCV001754657]	uncertain significance	12	109103608	109103609	Human		name
151793555	CV1420463	single nucleotide variant	NM_080911.3(UNG):c.110C>A (p.Pro37His)	Hyper-IgM syndrome type 5 [RCV002027440]	uncertain significance	12	109097789	109097789	Human	1	name
151834709	CV1452816	single nucleotide variant	NM_080911.3(UNG):c.188C>T (p.Ser63Phe)	Hyper-IgM syndrome type 5 [RCV001880655]	uncertain significance	12	109098487	109098487	Human	1	name
151769842	CV1460328	single nucleotide variant	NM_080911.3(UNG):c.200G>A (p.Ser67Asn)	Hyper-IgM syndrome type 5 [RCV001863970]	uncertain significance	12	109098499	109098499	Human	1	name
152999324	CV1679764	duplication	NM_080911.3(UNG):c.649dup (p.Thr217fs)	Hyper-IgM syndrome type 5 [RCV002251153]	pathogenic	12	109103458	109103459	Human	1	name
156378760	CV1876745	single nucleotide variant	NM_080911.3(UNG):c.288G>C (p.Glu96Asp)	Hyper-IgM syndrome type 5 [RCV003066976]	uncertain significance	12	109098587	109098587	Human	1	name
156203220	CV2021319	single nucleotide variant	NM_080911.3(UNG):c.134C>T (p.Ala45Val)	Hyper-IgM syndrome type 5 [RCV002711475]	uncertain significance	12	109098433	109098433	Human	1	name
156138495	CV2177715	single nucleotide variant	NM_080911.3(UNG):c.263G>C (p.Arg88Pro)	Hyper-IgM syndrome type 5 [RCV003039952]	uncertain significance	12	109098562	109098562	Human	1	name
8563029	CV27329	deletion	NM_080911.3(UNG):c.392del (p.Pro131fs)	Hyper-IgM syndrome type 5 [RCV000013084]	pathogenic	12	109099237	109099237	Human	1	name
11651608	CV323018	single nucleotide variant	NM_080911.3(UNG):c.100G>A (p.Ala34Thr)	Hyper-IgM syndrome type 5 [RCV000299867]	uncertain significance	12	109097779	109097779	Human	1	name
11620074	CV329054	single nucleotide variant	NM_080911.3(UNG):c.231C>G (p.Asn77Lys)	Hyper-IgM syndrome type 5 [RCV000332287]	uncertain significance	12	109098530	109098530	Human	1	name
405810159	CV3345141	single nucleotide variant	NM_080911.3(UNG):c.266A>G (p.Asn89Ser)	not specified [RCV004482101]	uncertain significance	12	109098565	109098565	Human		name
597670043	CV3707108	single nucleotide variant	NM_080911.3(UNG):c.294G>A (p.Trp98Ter)	Hyper-IgM syndrome type 5 [RCV005004784]	likely pathogenic	12	109098593	109098593	Human	1	name
597906009	CV3785145	deletion	NM_080911.3(UNG):c.682del (p.Glu228fs)	Hyper-IgM syndrome type 5 [RCV005127988]	pathogenic	12	109103491	109103491	Human	1	name
597941504	CV3785809	deletion	NM_080911.3(UNG):c.348del (p.Phe117fs)	Hyper-IgM syndrome type 5 [RCV005133702]	pathogenic	12	109099197	109099197	Human	1	name
598127559	CV3882739	single nucleotide variant	NM_080911.3(UNG):c.114G>C (p.Glu38Asp)	Hyper-IgM syndrome type 5 [RCV005234270]	uncertain significance	12	109097793	109097793	Human	1	name
13436302	CV434025	single nucleotide variant	NM_080911.3(UNG):c.262C>T (p.Arg88Cys)	Hyper-IgM syndrome type 5 [RCV000687269]\|not provided [RCV000506946]	conflicting interpretations of pathogenicity\|uncertain significance	12	109098561	109098561	Human	1	name
13482118	CV461582	single nucleotide variant	NM_080911.3(UNG):c.146A>G (p.Lys49Arg)	Hyper-IgM syndrome type 5 [RCV000551728]	likely benign\|uncertain significance	12	109098445	109098445	Human	1	name
13607327	CV526630	single nucleotide variant	NM_080911.3(UNG):c.265A>G (p.Asn89Asp)	Hyper-IgM syndrome type 5 [RCV000639383]	uncertain significance	12	109098564	109098564	Human	1	name
13706069	CV537209	deletion	NM_080911.3(UNG):c.309del (p.Ser103fs)	not provided [RCV000658665]	likely pathogenic	12	109098608	109098608	Human		name
14730095	CV640590	single nucleotide variant	NM_080911.3(UNG):c.260C>T (p.Ala87Val)	Hyper-IgM syndrome type 5 [RCV000800808]	uncertain significance	12	109098559	109098559	Human	1	name
15165642	CV724868	single nucleotide variant	NM_080911.3(UNG):c.194C>T (p.Pro65Leu)	Hyper-IgM syndrome type 5 [RCV001109469]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109098493	109098493	Human	1	name
38482155	CV926452	single nucleotide variant	NM_080911.3(UNG):c.124G>C (p.Asp42His)	Hyper-IgM syndrome type 5 [RCV001218333]	uncertain significance	12	109097803	109097803	Human	1	name
126908721	CV969946	single nucleotide variant	NM_080911.3(UNG):c.289A>T (p.Ser97Cys)	Hereditary breast ovarian cancer syndrome [RCV001374544]	uncertain significance	12	109098588	109098588	Human	1	name
126750439	CV994876	single nucleotide variant	NM_080911.3(UNG):c.232A>G (p.Lys78Glu)	Hyper-IgM syndrome type 5 [RCV001297320]	uncertain significance	12	109098531	109098531	Human	1	name
126766033	CV1010087	duplication	NM_080911.3(UNG):c.891dup (p.Glu298Ter)	Hyper-IgM syndrome type 5 [RCV001320279]	uncertain significance	12	109109917	109109918	Human	1	name
126741103	CV1017555	single nucleotide variant	NM_080911.3(UNG):c.490G>A (p.Gly164Arg)	Hyper-IgM syndrome type 5 [RCV001329608]	uncertain significance	12	109101956	109101956	Human	1	name
126730522	CV1020971	single nucleotide variant	NM_080911.3(UNG):c.710C>G (p.Ala237Gly)	Hyper-IgM syndrome type 5 [RCV001333460]	uncertain significance	12	109103520	109103520	Human	1	name
126911124	CV1047650	single nucleotide variant	NM_080911.3(UNG):c.524C>T (p.Pro175Leu)	Hyper-IgM syndrome type 5 [RCV001369081]	uncertain significance	12	109101990	109101990	Human	1	name
126914449	CV1047651	single nucleotide variant	NM_080911.3(UNG):c.548A>G (p.Tyr183Cys)	Hyper-IgM syndrome type 5 [RCV001370477]	uncertain significance	12	109102853	109102853	Human	1	name
126912670	CV1047652	single nucleotide variant	NM_080911.3(UNG):c.721T>C (p.Trp241Arg)	Hyper-IgM syndrome type 5 [RCV001369820]	uncertain significance	12	109103531	109103531	Human	1	name
126918368	CV1047653	single nucleotide variant	NM_080911.3(UNG):c.796G>C (p.Asp266His)	Hyper-IgM syndrome type 5 [RCV001372619]	uncertain significance	12	109103606	109103606	Human	1	name
127263603	CV1062570	single nucleotide variant	NM_080911.3(UNG):c.730C>T (p.Gln244Ter)	Hyper-IgM syndrome type 5 [RCV001387995]	pathogenic	12	109103540	109103540	Human	1	name
150477620	CV1279484	insertion	NM_080911.3(UNG):c.802-48_802-47insAAAT	not provided [RCV001714157]	benign	12	109109781	109109782	Human		name
151878791	CV1370164	single nucleotide variant	NM_080911.3(UNG):c.934G>A (p.Glu312Lys)	Hyper-IgM syndrome type 5 [RCV001961376]	uncertain significance	12	109109961	109109961	Human	1	name
151852399	CV1378854	single nucleotide variant	NM_080911.3(UNG):c.514C>G (p.Pro172Ala)	Hyper-IgM syndrome type 5 [RCV001882920]\|not specified [RCV004040602]	uncertain significance	12	109101980	109101980	Human	1	name
151864884	CV1380784	single nucleotide variant	NM_080911.3(UNG):c.523C>G (p.Pro175Ala)	Hyper-IgM syndrome type 5 [RCV002018215]	uncertain significance	12	109101989	109101989	Human	1	name
151814273	CV1382324	single nucleotide variant	NM_080911.3(UNG):c.586C>T (p.Pro196Ser)	Hyper-IgM syndrome type 5 [RCV001992130]	uncertain significance	12	109102891	109102891	Human	1	name
151808608	CV1383984	single nucleotide variant	NM_080911.3(UNG):c.371A>G (p.His124Arg)	Hyper-IgM syndrome type 5 [RCV001878039]	uncertain significance	12	109099220	109099220	Human	1	name
151765463	CV1387514	single nucleotide variant	NM_080911.3(UNG):c.489C>G (p.His163Gln)	Hyper-IgM syndrome type 5 [RCV001987731]	uncertain significance	12	109101955	109101955	Human	1	name
151838950	CV1415142	single nucleotide variant	NM_080911.3(UNG):c.851A>G (p.Tyr284Cys)	Hyper-IgM syndrome type 5 [RCV001921299]	uncertain significance	12	109109878	109109878	Human	1	name
151729659	CV1416606	single nucleotide variant	NM_080911.3(UNG):c.399A>C (p.Gln133His)	Hyper-IgM syndrome type 5 [RCV002004636]\|not specified [RCV004043926]	uncertain significance	12	109099248	109099248	Human	1	name
151793621	CV1420472	single nucleotide variant	NM_080911.3(UNG):c.686G>A (p.Arg229Gln)	Hyper-IgM syndrome type 5 [RCV002027446]	uncertain significance	12	109103496	109103496	Human	1	name
151839366	CV1492893	single nucleotide variant	NM_080911.3(UNG):c.583C>A (p.His195Asn)	Hyper-IgM syndrome type 5 [RCV001881156]	uncertain significance	12	109102888	109102888	Human	1	name
151773895	CV1504903	single nucleotide variant	NM_080911.3(UNG):c.541A>G (p.Asn181Asp)	Hyper-IgM syndrome type 5 [RCV002009107]	uncertain significance	12	109102846	109102846	Human	1	name
156386897	CV1875084	single nucleotide variant	NM_080911.3(UNG):c.674C>T (p.Ser225Phe)	Hyper-IgM syndrome type 5 [RCV003050936]	uncertain significance	12	109103484	109103484	Human	1	name
156183392	CV1884795	single nucleotide variant	NM_080911.3(UNG):c.580G>A (p.Val194Ile)	Hyper-IgM syndrome type 5 [RCV003083635]	uncertain significance	12	109102885	109102885	Human	1	name
155952607	CV1896334	single nucleotide variant	NM_080911.3(UNG):c.487C>T (p.His163Tyr)	Hyper-IgM syndrome type 5 [RCV003095415]	uncertain significance	12	109101953	109101953	Human	1	name
156137991	CV1902239	single nucleotide variant	NM_080911.3(UNG):c.527C>T (p.Pro176Leu)	Hyper-IgM syndrome type 5 [RCV003082091]	uncertain significance	12	109101993	109101993	Human	1	name
155984812	CV1907472	single nucleotide variant	NM_080911.3(UNG):c.579T>G (p.Phe193Leu)	Hyper-IgM syndrome type 5 [RCV003097552]	benign	12	109102884	109102884	Human	1	name
156415454	CV1958508	single nucleotide variant	NM_080911.3(UNG):c.631C>T (p.Leu211Phe)	Hyper-IgM syndrome type 5 [RCV002589179]	uncertain significance	12	109103441	109103441	Human	1	name
156072703	CV2015541	single nucleotide variant	NM_080911.3(UNG):c.640G>A (p.Ala214Thr)	Hyper-IgM syndrome type 5 [RCV002705733]	uncertain significance	12	109103450	109103450	Human	1	name
156182741	CV2020549	single nucleotide variant	NM_080911.3(UNG):c.634C>G (p.Leu212Val)	Hyper-IgM syndrome type 5 [RCV002710833]	uncertain significance	12	109103444	109103444	Human	1	name
156347470	CV2051984	single nucleotide variant	NM_080911.3(UNG):c.489C>A (p.His163Gln)	Hyper-IgM syndrome type 5 [RCV002811541]	uncertain significance	12	109101955	109101955	Human	1	name
156130541	CV2114825	single nucleotide variant	NM_080911.3(UNG):c.521C>T (p.Pro174Leu)	Hyper-IgM syndrome type 5 [RCV002914535]\|not specified [RCV004066281]	uncertain significance	12	109101987	109101987	Human	1	name
155942609	CV2115047	single nucleotide variant	NM_080911.3(UNG):c.388C>A (p.Pro130Thr)	Hyper-IgM syndrome type 5 [RCV002904575]	uncertain significance	12	109099237	109099237	Human	1	name
156008787	CV2127561	single nucleotide variant	NM_080911.3(UNG):c.824C>G (p.Thr275Arg)	Hyper-IgM syndrome type 5 [RCV002948149]	uncertain significance	12	109109851	109109851	Human	1	name
155976972	CV2151239	single nucleotide variant	NM_080911.3(UNG):c.737C>T (p.Ser246Leu)	Hyper-IgM syndrome type 5 [RCV003033696]	uncertain significance	12	109103547	109103547	Human	1	name
155963349	CV2282730	single nucleotide variant	NM_080911.3(UNG):c.389C>T (p.Pro130Leu)	not specified [RCV004141592]	uncertain significance	12	109099238	109099238	Human		name
156179399	CV2298375	single nucleotide variant	NM_080911.3(UNG):c.442G>T (p.Val148Phe)	not specified [RCV004160266]	uncertain significance	12	109101908	109101908	Human		name
401724871	CV2672329	single nucleotide variant	NM_080911.3(UNG):c.339G>T (p.Lys113Asn)	not provided [RCV003239230]	uncertain significance	12	109098638	109098638	Human		name
8598963	CV27331	single nucleotide variant	NM_080911.3(UNG):c.752T>C (p.Phe251Ser)	Hyper-IgM syndrome type 5 [RCV000013086]	pathogenic	12	109103562	109103562	Human	1	name
404991684	CV2856437	single nucleotide variant	NM_080911.3(UNG):c.925G>A (p.Asp309Asn)	Hyper-IgM syndrome type 5 [RCV003512882]	uncertain significance	12	109109952	109109952	Human	1	name
404994516	CV2869865	single nucleotide variant	NM_080911.3(UNG):c.437T>G (p.Val146Gly)	Hyper-IgM syndrome type 5 [RCV003513225]	uncertain significance	12	109101903	109101903	Human	1	name
11610609	CV315877	single nucleotide variant	NM_080911.3(UNG):c.544A>G (p.Ile182Val)	Hyper-IgM syndrome type 5 [RCV000791786]	uncertain significance	12	109102849	109102849	Human	1	name
11615395	CV329061	single nucleotide variant	NM_080911.3(UNG):c.769T>C (p.Tyr257His)	Hyper-IgM syndrome type 5 [RCV000285151]\|not provided [RCV000520946]\|not specified [RCV004021531]	uncertain significance	12	109103579	109103579	Human	1	name
407454782	CV3489385	single nucleotide variant	NM_080911.3(UNG):c.338A>G (p.Lys113Arg)	not specified [RCV004685230]	uncertain significance	12	109098637	109098637	Human		name
407454785	CV3489386	single nucleotide variant	NM_080911.3(UNG):c.488A>G (p.His163Arg)	not specified [RCV004685231]	uncertain significance	12	109101954	109101954	Human		name
408388692	CV3522699	single nucleotide variant	NM_080911.3(UNG):c.313G>T (p.Glu105Ter)	Hyper-IgM syndrome type 5 [RCV005104946]\|not provided [RCV004769080]	pathogenic\|uncertain significance	12	109098612	109098612	Human	1	name
597670052	CV3707109	single nucleotide variant	NM_080911.3(UNG):c.454G>T (p.Gly152Ter)	Hyper-IgM syndrome type 5 [RCV005004785]	likely pathogenic	12	109101920	109101920	Human	1	name
597914457	CV3778885	single nucleotide variant	NM_080911.3(UNG):c.570A>G (p.Ile190Met)	Hyper-IgM syndrome type 5 [RCV005129230]	uncertain significance	12	109102875	109102875	Human	1	name
597941544	CV3785817	single nucleotide variant	NM_080911.3(UNG):c.343A>T (p.Met115Leu)	Hyper-IgM syndrome type 5 [RCV005133710]	uncertain significance	12	109099192	109099192	Human	1	name
597900883	CV3796625	single nucleotide variant	NM_080911.3(UNG):c.514C>A (p.Pro172Thr)	Hyper-IgM syndrome type 5 [RCV005152707]	uncertain significance	12	109101980	109101980	Human	1	name
598191409	CV3925715	single nucleotide variant	NM_080911.3(UNG):c.880T>A (p.Ser294Thr)	not specified [RCV005288354]	uncertain significance	12	109109907	109109907	Human		name
13490009	CV461584	single nucleotide variant	NM_080911.3(UNG):c.843G>T (p.Leu281Phe)	Hyper-IgM syndrome type 5 [RCV000533213]\|not provided [RCV003884610]	likely benign	12	109109870	109109870	Human	1	name
13607331	CV526638	single nucleotide variant	NM_080911.3(UNG):c.911G>A (p.Gly304Asp)	Hyper-IgM syndrome type 5 [RCV000639384]	uncertain significance	12	109109938	109109938	Human	1	name
13814511	CV571181	single nucleotide variant	NM_080911.3(UNG):c.392C>T (p.Pro131Leu)	Hyper-IgM syndrome type 5 [RCV000705084]	likely benign\|uncertain significance	12	109099241	109099241	Human	1	name
13807872	CV571184	single nucleotide variant	NM_080911.3(UNG):c.685C>T (p.Arg229Ter)	Hyper-IgM syndrome type 5 [RCV000701366]	pathogenic	12	109103495	109103495	Human	1	name
14703677	CV640591	single nucleotide variant	NM_080911.3(UNG):c.366A>C (p.Arg122Ser)	Hyper-IgM syndrome type 5 [RCV000807482]\|not specified [RCV004028615]	uncertain significance	12	109099215	109099215	Human	1	name
14736687	CV640592	single nucleotide variant	NM_080911.3(UNG):c.593A>G (p.His198Arg)	Hyper-IgM syndrome type 5 [RCV000803713]\|not specified [RCV001192880]	uncertain significance	12	109102898	109102898	Human	1	name
14735442	CV640593	single nucleotide variant	NM_080911.3(UNG):c.805C>T (p.Arg269Trp)	Hyper-IgM syndrome type 5 [RCV000803154]	uncertain significance	12	109109832	109109832	Human	1	name
21074319	CV796681	duplication	NM_080911.3(UNG):c.501dup (p.Ser168Ter)	not provided [RCV000994969]	uncertain significance	12	109101964	109101965	Human		name
28868076	CV869171	single nucleotide variant	NM_080911.3(UNG):c.664C>G (p.Gln222Glu)	Hyper-IgM syndrome type 5 [RCV001112234]	uncertain significance	12	109103474	109103474	Human	1	name
28868079	CV869172	single nucleotide variant	NM_080911.3(UNG):c.812A>G (p.His271Arg)	Hyper-IgM syndrome type 5 [RCV001112235]	uncertain significance	12	109109839	109109839	Human	1	name
38477758	CV926453	single nucleotide variant	NM_080911.3(UNG):c.318C>A (p.Phe106Leu)	Hyper-IgM syndrome type 5 [RCV001216290]	uncertain significance	12	109098617	109098617	Human	1	name
38479631	CV926454	single nucleotide variant	NM_080911.3(UNG):c.638A>G (p.Asn213Ser)	Hyper-IgM syndrome type 5 [RCV001217087]	uncertain significance	12	109103448	109103448	Human	1	name
38487157	CV926455	single nucleotide variant	NM_080911.3(UNG):c.839C>T (p.Pro280Leu)	Hyper-IgM syndrome type 5 [RCV001220635]	uncertain significance	12	109109866	109109866	Human	1	name
38481871	CV947771	single nucleotide variant	NM_080911.3(UNG):c.415C>A (p.Gln139Lys)	Hyper-IgM syndrome type 5 [RCV001235322]	uncertain significance	12	109099264	109099264	Human	1	name
38483730	CV947772	single nucleotide variant	NM_080911.3(UNG):c.631C>A (p.Leu211Ile)	Hyper-IgM syndrome type 5 [RCV001236044]	uncertain significance	12	109103441	109103441	Human	1	name
38456213	CV947773	single nucleotide variant	NM_080911.3(UNG):c.653T>G (p.Val218Gly)	Hyper-IgM syndrome type 5 [RCV001228277]	uncertain significance	12	109103463	109103463	Human	1	name
38486913	CV947774	single nucleotide variant	NM_080911.3(UNG):c.824C>T (p.Thr275Met)	Hyper-IgM syndrome type 5 [RCV001237357]	uncertain significance	12	109109851	109109851	Human	1	name
38498500	CV956739	single nucleotide variant	NM_080911.3(UNG):c.868T>G (p.Cys290Gly)	Hyper-IgM syndrome type 5 [RCV001243867]	uncertain significance	12	109109895	109109895	Human	1	name
126734576	CV994877	single nucleotide variant	NM_080911.3(UNG):c.452T>C (p.Leu151Pro)	Hyper-IgM syndrome type 5 [RCV001294940]	uncertain significance	12	109101918	109101918	Human	1	name
126752561	CV994878	single nucleotide variant	NM_080911.3(UNG):c.487C>G (p.His163Asp)	Hyper-IgM syndrome type 5 [RCV001297755]\|not specified [RCV004036082]	uncertain significance	12	109101953	109101953	Human	1	name
126761728	CV994879	single nucleotide variant	NM_080911.3(UNG):c.508C>G (p.Gln170Glu)	Hyper-IgM syndrome type 5 [RCV001300180]	uncertain significance	12	109101974	109101974	Human	1	name
126762372	CV994880	single nucleotide variant	NM_080911.3(UNG):c.620A>G (p.Gln207Arg)	Hyper-IgM syndrome type 5 [RCV001300374]	uncertain significance	12	109102925	109102925	Human	1	name
150450059	CV1254063	insertion	NM_080911.3(UNG):c.802-48_802-47insAAAAT	not provided [RCV001667700]	benign	12	109109781	109109782	Human		name
150545442	CV1315590	deletion	NM_080911.3(UNG):c.569_570del (p.Ile190fs)	Hyper-IgM syndrome type 5 [RCV003513623]	pathogenic\|likely pathogenic	12	109102873	109102874	Human	1	name
151839656	CV1364271	microsatellite	NM_080911.3(UNG):c.366_369del (p.Arg122fs)	Hyper-IgM syndrome type 5 [RCV001994580]	pathogenic	12	109099208	109099211	Human		name
151794905	CV1420627	microsatellite	NM_080911.3(UNG):c.778AAG[1] (p.Lys261del)	Hyper-IgM syndrome type 5 [RCV002027562]	uncertain significance	12	109103586	109103588	Human		name
8563030	CV27330	microsatellite	NM_080911.3(UNG):c.572_573del (p.Glu191fs)	Hyper-IgM syndrome type 5 [RCV000013085]	pathogenic	12	109102875	109102876	Human		name
8563031	CV27332	deletion	NM_080911.3(UNG):c.428_429del (p.Ile143fs)	Hyper-IgM syndrome type 5 [RCV000013087]	pathogenic	12	109099276	109099277	Human	1	name
597670061	CV3707110	deletion	NM_080911.3(UNG):c.551_552del (p.Lys184fs)	Hyper-IgM syndrome type 5 [RCV005004786]	likely pathogenic	12	109102855	109102856	Human	1	name
151829737	CV1465901	deletion	NM_080911.3(UNG):c.47_73del (p.Ala16_Pro24del)	Hyper-IgM syndrome type 5 [RCV002050605]	uncertain significance	12	109097714	109097740	Human	1	name
126908917	CV1052897	deletion	NM_080911.3(UNG):c.294del (p.Ser97_Trp98insTer)	Hyper-IgM syndrome type 5 [RCV001374665]	pathogenic	12	109098592	109098592	Human	1	name
26901103	CV839253	indel	NM_080911.3(UNG):c.178_182delinsCAGGAGGA (p.Thr60_Pro61delinsGlnGluGlu)	Hyper-IgM syndrome type 5 [RCV001055860]	uncertain significance	12	109098477	109098481	Human		name
9589507	CV165961	single nucleotide variant	NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys)	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma [RCV000766196]\|Palmoplantar keratoderma [RCV000144361]	pathogenic\|likely pathogenic	6	148533885	148533885	Human	4	alternate_id
126765874	CV1025142	single nucleotide variant	NM_003722.5(TP63):c.1121C>T (p.Thr374Met)	ADULT syndrome [RCV002486385]\|TP63-Related Spectrum Disorders [RCV001342203]	uncertain significance	3	189868708	189868708	Human	9	alternate_id
126773774	CV1025143	single nucleotide variant	NM_003722.5(TP63):c.1697C>T (p.Thr566Met)	ADULT syndrome [RCV002493783]\|ADULT syndrome [RCV005394964]\|TP63-Related Spectrum Disorders [RCV001346460]	uncertain significance	3	189890833	189890833	Human	10	alternate_id
126919893	CV1042089	single nucleotide variant	NM_003722.5(TP63):c.799G>A (p.Val267Ile)	ADULT syndrome [RCV003333764]\|TP63-Related Spectrum Disorders [RCV001362555]	uncertain significance	3	189866714	189866714	Human	1	alternate_id
127271285	CV1059703	single nucleotide variant	NM_003722.5(TP63):c.1670G>T (p.Gly557Val)	ADULT syndrome [RCV003136064]\|TP63-Related Spectrum Disorders [RCV001390109]	pathogenic\|likely pathogenic	3	189890806	189890806	Human	1	alternate_id
127250186	CV1092295	single nucleotide variant	NM_003722.5(TP63):c.1626G>A (p.Pro542=)	ADULT syndrome [RCV002488244]\|TP63-Related Spectrum Disorders [RCV001436269]\|TP63-related disorder [RCV003938759]	likely benign	3	189889458	189889458	Human	9	alternate_id
150550837	CV1305253	single nucleotide variant	NM_003722.5(TP63):c.2021G>A (p.Arg674His)	ADULT syndrome [RCV002488602]\|not provided [RCV001766033]\|not specified [RCV003331198]	uncertain significance	3	189894480	189894480	Human	1	alternate_id
151348570	CV1324098	single nucleotide variant	NM_003722.5(TP63):c.802G>A (p.Glu268Lys)	ADULT syndrome [RCV003154197]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001808011]	likely pathogenic\|uncertain significance	3	189866717	189866717	Human	2	alternate_id
151853375	CV1349257	single nucleotide variant	NM_003722.5(TP63):c.1814G>A (p.Arg605Gln)	ADULT syndrome [RCV002484467]\|TP63-Related Spectrum Disorders [RCV001923091]\|not provided [RCV002272528]	benign\|uncertain significance	3	189894273	189894273	Human	9	alternate_id
151814983	CV1349905	single nucleotide variant	NM_003722.5(TP63):c.1612A>G (p.Thr538Ala)	ADULT syndrome [RCV002486578]\|TP63-Related Spectrum Disorders [RCV002012813]	uncertain significance	3	189889444	189889444	Human	9	alternate_id
151885063	CV1364252	single nucleotide variant	NM_003722.5(TP63):c.1095G>A (p.Ser365=)	ADULT syndrome [RCV002497866]\|TP63-Related Spectrum Disorders [RCV002037680]	likely benign	3	189868682	189868682	Human	9	alternate_id
151874204	CV1369448	single nucleotide variant	NM_003722.5(TP63):c.1394C>T (p.Pro465Leu)	ADULT syndrome [RCV002479821]\|TP63-Related Spectrum Disorders [RCV002036054]	uncertain significance	3	189886438	189886438	Human	9	alternate_id
151744388	CV1404678	single nucleotide variant	NM_003722.5(TP63):c.1352C>G (p.Thr451Ser)	ADULT syndrome [RCV002479739]\|TP63-Related Spectrum Disorders [RCV002022652]	likely benign\|uncertain significance	3	189886396	189886396	Human	9	alternate_id
151793304	CV1423061	single nucleotide variant	NM_003722.5(TP63):c.50C>G (p.Pro17Arg)	ADULT syndrome [RCV002479438]\|TP63-Related Spectrum Disorders [RCV001917025]	uncertain significance	3	189631565	189631565	Human	9	alternate_id
151841883	CV1423847	single nucleotide variant	NM_003722.5(TP63):c.2003G>A (p.Arg668His)	ADULT syndrome [RCV002507738]\|TP63-Related Spectrum Disorders [RCV001977796]	likely benign\|uncertain significance	3	189894462	189894462	Human	9	alternate_id
151799806	CV1430725	microsatellite	NM_003722.5(TP63):c.1831TCC[1] (p.Ser612del)	ADULT syndrome [RCV002482573]\|TP63-Related Spectrum Disorders [RCV001877272]	uncertain significance	3	189894289	189894291	Human		alternate_id
151774305	CV1430865	single nucleotide variant	NM_003722.5(TP63):c.1537G>C (p.Ala513Pro)	ADULT syndrome [RCV005023331]\|TP63-Related Spectrum Disorders [RCV001864370]	benign\|uncertain significance	3	189889369	189889369	Human	10	alternate_id
151849384	CV1431343	single nucleotide variant	NM_003722.5(TP63):c.110G>A (p.Arg37Gln)	ADULT syndrome [RCV002482760]\|TP63-Related Spectrum Disorders [RCV001922562]	uncertain significance	3	189737787	189737787	Human	9	alternate_id
151777826	CV1436728	single nucleotide variant	NM_003722.5(TP63):c.1570G>A (p.Ala524Thr)	ADULT syndrome [RCV002466729]\|TP63-Related Spectrum Disorders [RCV001971798]	uncertain significance	3	189889402	189889402	Human	1	alternate_id
151800604	CV1442183	single nucleotide variant	NM_003722.5(TP63):c.62G>A (p.Arg21His)	ADULT syndrome [RCV002479771]\|TP63-Related Spectrum Disorders [RCV002011531]\|not provided [RCV004697185]	uncertain significance	3	189631577	189631577	Human	9	alternate_id
151667729	CV1460838	single nucleotide variant	NM_003722.5(TP63):c.1583C>A (p.Pro528Gln)	ADULT syndrome [RCV005038437]\|TP63-Related Spectrum Disorders [RCV001888941]\|not provided [RCV002508326]	uncertain significance	3	189889415	189889415	Human	10	alternate_id
151856688	CV1470088	microsatellite	NM_003722.5(TP63):c.1507+6_1507+7del	ADULT syndrome [RCV005023350]\|TP63-Related Spectrum Disorders [RCV001883415]	uncertain significance	3	189886555	189886556	Human		alternate_id
151878707	CV1493932	single nucleotide variant	NM_003722.5(TP63):c.1807G>C (p.Asp603His)	ADULT syndrome [RCV005002692]\|TP63-Related Spectrum Disorders [RCV001982230]\|TP63-related disorder [RCV004746523]	likely benign\|uncertain significance	3	189894266	189894266	Human	10	alternate_id
151810559	CV1497405	single nucleotide variant	NM_003722.5(TP63):c.882+19A>T	ADULT syndrome [RCV002503666]\|TP63-Related Spectrum Disorders [RCV001974726]	likely benign	3	189866816	189866816	Human	9	alternate_id
152058632	CV1531940	single nucleotide variant	NM_003722.5(TP63):c.498C>T (p.Pro166=)	ADULT syndrome [RCV002494016]\|TP63-Related Spectrum Disorders [RCV002089997]	benign\|likely benign	3	189808445	189808445	Human	9	alternate_id
152049809	CV1540384	single nucleotide variant	NM_003722.5(TP63):c.654A>G (p.Pro218=)	ADULT syndrome [RCV002494367]\|TP63-Related Spectrum Disorders [RCV002108809]	likely benign	3	189864306	189864306	Human	9	alternate_id
152030112	CV1570681	single nucleotide variant	NM_003722.5(TP63):c.156A>G (p.Pro52=)	ADULT syndrome [RCV002500006]\|TP63-Related Spectrum Disorders [RCV002105821]\|TP63-related disorder [RCV004747045]	likely benign	3	189737833	189737833	Human	9	alternate_id
152034565	CV1610617	single nucleotide variant	NM_003722.5(TP63):c.20G>T (p.Arg7Leu)	ADULT syndrome [RCV002480958]\|TP63-Related Spectrum Disorders [RCV002125117]\|TP63-related disorder [RCV003913742]	benign\|likely benign	3	189631535	189631535	Human	9	alternate_id
152156613	CV1630419	single nucleotide variant	NM_003722.5(TP63):c.1367C>T (p.Pro456Leu)	ADULT syndrome [RCV005025708]\|TP63-Related Spectrum Disorders [RCV002122523]\|not provided [RCV002464516]	benign\|uncertain significance	3	189886411	189886411	Human	10	alternate_id
152082144	CV1641473	single nucleotide variant	NM_003722.5(TP63):c.475C>T (p.Leu159Phe)	ADULT syndrome [RCV005025689]\|TP63-Related Spectrum Disorders [RCV002211558]	likely benign	3	189808422	189808422	Human	10	alternate_id
152103002	CV1656672	single nucleotide variant	NM_003722.5(TP63):c.1575C>T (p.Leu525=)	ADULT syndrome [RCV002507993]\|TP63-Related Spectrum Disorders [RCV002115592]	likely benign	3	189889407	189889407	Human	9	alternate_id
152091800	CV1662273	single nucleotide variant	NM_003722.5(TP63):c.1480A>G (p.Thr494Ala)	ADULT syndrome [RCV005025709]\|TP63-Related Spectrum Disorders [RCV002132136]	benign\|uncertain significance	3	189886524	189886524	Human	10	alternate_id
156243495	CV1893882	single nucleotide variant	NM_003722.5(TP63):c.1861A>G (p.Ser621Gly)	ADULT syndrome [RCV005028202]\|TP63-Related Spectrum Disorders [RCV003085834]	uncertain significance	3	189894320	189894320	Human	10	alternate_id
155935080	CV1916343	single nucleotide variant	NM_003722.5(TP63):c.1518G>A (p.Met506Ile)	ADULT syndrome [RCV005034735]\|TP63-Related Spectrum Disorders [RCV002615244]	uncertain significance	3	189889350	189889350	Human	10	alternate_id
10048503	CV193526	deletion	NM_003722.5(TP63):c.192-9_192-8del	ADULT syndrome [RCV002503681]\|TP63-Related Spectrum Disorders [RCV001080338]\|not provided [RCV000514456]\|not specified [RCV000177177]	benign\|likely benign	3	189738632	189738633	Human	9	alternate_id
156445331	CV1945338	single nucleotide variant	NM_003722.5(TP63):c.2040G>C (p.Glu680Asp)	ADULT syndrome [RCV005029906]\|TP63-Related Spectrum Disorders [RCV003116272]	uncertain significance	3	189894499	189894499	Human	10	alternate_id
156404778	CV1993507	single nucleotide variant	NM_003722.5(TP63):c.1594C>G (p.Pro532Ala)	ADULT syndrome [RCV005025921]\|TP63-Related Spectrum Disorders [RCV002658136]	uncertain significance	3	189889426	189889426	Human	10	alternate_id
10408567	CV204361	deletion	NM_003722.5(TP63):c.1963del (p.Arg655fs)	ADULT syndrome [RCV000195096]	pathogenic	3	189894419	189894419	Human		alternate_id
156103729	CV2096311	single nucleotide variant	NM_003722.5(TP63):c.1481C>T (p.Thr494Ile)	ADULT syndrome [RCV005028014]\|TP63-Related Spectrum Disorders [RCV002913503]	uncertain significance	3	189886525	189886525	Human	10	alternate_id
8559391	CV21566	single nucleotide variant	NM_003722.5(TP63):c.727C>T (p.Arg243Trp)	ADULT syndrome [RCV005025017]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006900]\|Rapp-Hodgkin syndrome [RCV002283440]\|TP63-Related Spectrum Disorders [RCV000812084]\|not provided [RCV000394306]	pathogenic	3	189864379	189864379	Human	10	alternate_id
8559398	CV21573	single nucleotide variant	NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)	ADULT syndrome [RCV005025018]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006908]\|Inborn genetic diseases [RCV001266717]\|TP63-Related Spectrum Disorders [RCV000655484]\|not provided [RCV000276670]	pathogenic\|likely pathogenic	3	189868615	189868615	Human	11	alternate_id
8559401	CV21576	single nucleotide variant	NM_001114980.2(TP63):c.16A>C (p.Asn6His)	ADULT syndrome [RCV000006911]	pathogenic	3	189789816	189789816	Human	1	alternate_id
8559404	CV21579	single nucleotide variant	NM_003722.5(TP63):c.1010G>A (p.Arg337Gln)	ADULT syndrome [RCV000006914]\|TP63-Related Spectrum Disorders [RCV000794231]\|not provided [RCV001781195]	pathogenic\|likely pathogenic	3	189868597	189868597	Human	1	alternate_id
8559410	CV21585	single nucleotide variant	TP63, VAL114MET	ADULT syndrome [RCV000006921]	pathogenic				Human	1	alternate_id
8559412	CV21587	single nucleotide variant	NM_003722.5(TP63):c.1009C>G (p.Arg337Gly)	ADULT syndrome [RCV000006923]\|not provided [RCV001280741]	pathogenic	3	189868596	189868596	Human	1	alternate_id
8559413	CV21588	single nucleotide variant	NM_003722.5(TP63):c.289C>T (p.Arg97Cys)	ADULT syndrome [RCV005031401]\|Split hand-foot malformation 4 [RCV000006924]\|TP63-Related Spectrum Disorders [RCV001851711]	pathogenic\|uncertain significance	3	189738739	189738739	Human	10	alternate_id
8559414	CV21589	single nucleotide variant	NM_003722.5(TP63):c.797G>A (p.Arg266Gln)	ADULT syndrome [RCV000006926]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000006925]\|TP63-Related Spectrum Disorders [RCV001390108]\|not provided [RCV000413620]	pathogenic\|likely pathogenic	3	189866712	189866712	Human	3	alternate_id
8559416	CV21591	single nucleotide variant	P127L	ADULT syndrome [RCV000006928]	pathogenic				Human	1	alternate_id
156439983	CV2401667	single nucleotide variant	NM_003722.5(TP63):c.19C>T (p.Arg7Trp)	ADULT syndrome [RCV005036644]\|TP63-Related Spectrum Disorders [RCV003757247]\|not provided [RCV003109955]	uncertain significance	3	189631534	189631534	Human	10	alternate_id
11579142	CV271227	single nucleotide variant	NM_003722.5(TP63):c.1531C>A (p.Pro511Thr)	ADULT syndrome [RCV002480032]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000296599]\|Orofacial cleft 8 [RCV000399267]\|TP63-Related Spectrum Disorders [RCV000351504]\|not provided [RCV001572958]\|not specified [RCV000384210]	benign\|likely benign	3	189889363	189889363	Human	9	alternate_id
401937844	CV2797181	single nucleotide variant	NM_003722.5(TP63):c.122C>T (p.Ser41Phe)	ADULT syndrome [RCV005036783]\|TP63-Related Spectrum Disorders [RCV005062890]\|TP63-related disorder [RCV003416940]\|not provided [RCV005228029]	uncertain significance	3	189737799	189737799	Human	10	alternate_id
405051637	CV2887732	single nucleotide variant	NM_003722.5(TP63):c.1661C>T (p.Ala554Val)	ADULT syndrome [RCV005030092]\|TP63-Related Spectrum Disorders [RCV003592908]	likely benign\|uncertain significance	3	189890797	189890797	Human	10	alternate_id
11585921	CV294095	single nucleotide variant	NM_003722.5(TP63):c.992+4A>C	ADULT syndrome [RCV002502321]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000283959]\|Orofacial cleft 8 [RCV000321352]\|TP63-Related Spectrum Disorders [RCV000378424]\|not provided [RCV001618612]	benign\|likely benign	3	189867946	189867946	Human	9	alternate_id
405167746	CV3031152	single nucleotide variant	NM_003722.5(TP63):c.362A>G (p.Asp121Gly)	ADULT syndrome [RCV005030203]\|TP63-Related Spectrum Disorders [RCV003757890]	pathogenic\|uncertain significance	3	189808309	189808309	Human	10	alternate_id
405154965	CV3054728	single nucleotide variant	NM_003722.5(TP63):c.1223G>A (p.Arg408His)	ADULT syndrome [RCV005030227]\|TP63-Related Spectrum Disorders [RCV003756675]	uncertain significance	3	189872869	189872869	Human	10	alternate_id
405160213	CV3076485	single nucleotide variant	NM_003722.5(TP63):c.1898C>G (p.Thr633Ser)	ADULT syndrome [RCV005392690]\|Inborn genetic diseases [RCV004968444]\|TP63-Related Spectrum Disorders [RCV003757122]	uncertain significance	3	189894357	189894357	Human	9	alternate_id
405199905	CV3128867	single nucleotide variant	NM_003722.5(TP63):c.1142A>G (p.Asn381Ser)	ADULT syndrome [RCV005038545]\|TP63-Related Spectrum Disorders [RCV003821910]	uncertain significance	3	189869336	189869336	Human	10	alternate_id
597716283	CV3717395	single nucleotide variant	NM_003722.5(TP63):c.131C>A (p.Thr44Lys)	ADULT syndrome [RCV005035284]	uncertain significance	3	189737808	189737808	Human	1	alternate_id
597637849	CV3717396	single nucleotide variant	NM_003722.5(TP63):c.161T>C (p.Val54Ala)	ADULT syndrome [RCV005024551]	uncertain significance	3	189737838	189737838	Human	1	alternate_id
597716303	CV3717397	single nucleotide variant	NM_003722.5(TP63):c.325-18411A>G	ADULT syndrome [RCV005035286]	uncertain significance	3	189789861	189789861	Human	1	alternate_id
597637856	CV3717398	duplication	NM_003722.5(TP63):c.345dup (p.Leu116fs)	ADULT syndrome [RCV005024552]	likely pathogenic	3	189808288	189808289	Human	1	alternate_id
597637862	CV3717400	single nucleotide variant	NM_003722.5(TP63):c.543C>G (p.Phe181Leu)	ADULT syndrome [RCV005024553]	uncertain significance	3	189808490	189808490	Human	1	alternate_id
597637868	CV3717401	single nucleotide variant	NM_003722.5(TP63):c.609C>T (p.Cys203=)	ADULT syndrome [RCV005024554]	uncertain significance	3	189864261	189864261	Human	1	alternate_id
597637875	CV3717402	single nucleotide variant	NM_003722.5(TP63):c.809A>G (p.Asn270Ser)	ADULT syndrome [RCV005024555]	uncertain significance	3	189866724	189866724	Human	1	alternate_id
597637880	CV3717403	single nucleotide variant	NM_003722.5(TP63):c.1129+1G>A	ADULT syndrome [RCV005024556]	likely pathogenic	3	189868717	189868717	Human	1	alternate_id
597716315	CV3717404	single nucleotide variant	NM_003722.5(TP63):c.1160T>A (p.Met387Lys)	ADULT syndrome [RCV005035287]	uncertain significance	3	189869354	189869354	Human	1	alternate_id
597716323	CV3717405	single nucleotide variant	NM_003722.5(TP63):c.1350-6263G>A	ADULT syndrome [RCV005035288]	uncertain significance	3	189880131	189880131	Human	1	alternate_id
597637887	CV3717406	single nucleotide variant	NM_003722.5(TP63):c.1350-7T>A	ADULT syndrome [RCV005024557]	uncertain significance	3	189886387	189886387	Human	1	alternate_id
597716335	CV3717407	single nucleotide variant	NM_003722.5(TP63):c.1362G>T (p.Gln454His)	ADULT syndrome [RCV005035289]	uncertain significance	3	189886406	189886406	Human	1	alternate_id
597637893	CV3717408	single nucleotide variant	NM_003722.5(TP63):c.1525C>T (p.His509Tyr)	ADULT syndrome [RCV005024558]	uncertain significance	3	189889357	189889357	Human	1	alternate_id
597716360	CV3717409	single nucleotide variant	NM_003722.5(TP63):c.1528A>G (p.Met510Val)	ADULT syndrome [RCV005035291]	uncertain significance	3	189889360	189889360	Human	1	alternate_id
597637899	CV3717410	single nucleotide variant	NM_003722.5(TP63):c.1534A>G (p.Met512Val)	ADULT syndrome [RCV005024559]	uncertain significance	3	189889366	189889366	Human	1	alternate_id
597716369	CV3717411	single nucleotide variant	NM_003722.5(TP63):c.1565C>T (p.Thr522Ile)	ADULT syndrome [RCV005035292]	uncertain significance	3	189889397	189889397	Human	1	alternate_id
597637910	CV3717412	single nucleotide variant	NM_003722.5(TP63):c.1615C>T (p.Pro539Ser)	ADULT syndrome [RCV005024561]	uncertain significance	3	189889447	189889447	Human	1	alternate_id
597716381	CV3717413	single nucleotide variant	NM_003722.5(TP63):c.1797G>A (p.Lys599=)	ADULT syndrome [RCV005035293]	uncertain significance	3	189894256	189894256	Human	1	alternate_id
597637916	CV3717414	single nucleotide variant	NM_003722.5(TP63):c.1835C>A (p.Ser612Tyr)	ADULT syndrome [RCV005024562]	uncertain significance	3	189894294	189894294	Human	1	alternate_id
597637922	CV3717415	single nucleotide variant	NM_003722.5(TP63):c.1847T>G (p.Leu616Arg)	ADULT syndrome [RCV005024563]	uncertain significance	3	189894306	189894306	Human	1	alternate_id
597637928	CV3717416	single nucleotide variant	NM_003722.5(TP63):c.2009A>G (p.Asn670Ser)	ADULT syndrome [RCV005024564]	uncertain significance	3	189894468	189894468	Human	1	alternate_id
597637933	CV3717417	single nucleotide variant	NM_003722.5(TP63):c.2036G>A (p.Gly679Glu)	ADULT syndrome [RCV005024565]	uncertain significance	3	189894495	189894495	Human	1	alternate_id
598188445	CV4008583	microsatellite	NM_001329964.2(TP63):c.22_23del (p.Asp8fs)	ADULT syndrome [RCV005396082]	uncertain significance	3	189597199	189597200	Human		alternate_id
13836449	CV587723	single nucleotide variant	NM_003722.5(TP63):c.290G>A (p.Arg97His)	ADULT syndrome [RCV005004394]\|TP63-Related Spectrum Disorders [RCV001855687]\|TP63-related disorder [RCV004745572]\|not provided [RCV000732570]	uncertain significance	3	189738740	189738740	Human	10	alternate_id
15139714	CV691358	single nucleotide variant	NM_003722.5(TP63):c.402T>C (p.Tyr134=)	ADULT syndrome [RCV002478994]\|TP63-Related Spectrum Disorders [RCV002064880]	likely benign	3	189808349	189808349	Human	9	alternate_id
15139742	CV691359	single nucleotide variant	NM_003722.5(TP63):c.714G>A (p.Thr238=)	ADULT syndrome [RCV002507540]\|TP63-Related Spectrum Disorders [RCV005056655]	likely benign	3	189864366	189864366	Human	9	alternate_id
15142189	CV691360	single nucleotide variant	NM_003722.5(TP63):c.1788G>A (p.Ala596=)	ADULT syndrome [RCV002495327]\|TP63-Related Spectrum Disorders [RCV002064892]\|TP63-related disorder [RCV003967945]	benign\|likely benign	3	189894247	189894247	Human	9	alternate_id
15153493	CV697987	single nucleotide variant	NM_003722.5(TP63):c.1599C>T (p.Ser533=)	ADULT syndrome [RCV002505406]\|TP63-Related Spectrum Disorders [RCV001479077]\|TP63-related disorder [RCV003925862]\|not provided [RCV000946092]	likely benign	3	189889431	189889431	Human	9	alternate_id
15109403	CV708731	single nucleotide variant	NM_003722.5(TP63):c.366G>A (p.Gln122=)	ADULT syndrome [RCV002505442]\|TP63-Related Spectrum Disorders [RCV002066373]\|not provided [RCV000960693]	benign\|likely benign	3	189808313	189808313	Human	9	alternate_id
15145057	CV733957	single nucleotide variant	NM_003722.5(TP63):c.84T>G (p.His28Gln)	ADULT syndrome [RCV005029527]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001144653]\|Orofacial cleft 8 [RCV001144652]\|TP63-Related Spectrum Disorders [RCV001144654]	benign\|likely benign\|uncertain significance	3	189737761	189737761	Human	10	alternate_id
15113394	CV787261	single nucleotide variant	NM_003722.5(TP63):c.992+8G>A	ADULT syndrome [RCV002505488]\|TP63-Related Spectrum Disorders [RCV002066467]	likely benign	3	189867950	189867950	Human	9	alternate_id
21071281	CV790373	single nucleotide variant	NM_003722.5(TP63):c.1528A>T (p.Met510Leu)	ADULT syndrome [RCV005029546]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV000987374]\|TP63-Related Spectrum Disorders [RCV001858664]	uncertain significance	3	189889360	189889360	Human	10	alternate_id
8625584	CV80708	single nucleotide variant	NM_003722.5(TP63):c.1825G>A (p.Glu609Lys)	ADULT syndrome [RCV002504980]\|Split hand-foot malformation 4 [RCV001270760]	uncertain significance\|not provided	3	189894284	189894284	Human	2	alternate_id
28904884	CV888501	single nucleotide variant	NM_003722.5(TP63):c.210G>C (p.Gln70His)	ADULT syndrome [RCV005029719]\|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [RCV001144655]\|Orofacial cleft 8 [RCV001144656]\|TP63-Related Spectrum Disorders [RCV001144657]	benign\|likely benign\|uncertain significance	3	189738660	189738660	Human	10	alternate_id

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