Enam Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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683 records found for search term Enam

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11595270	CV294065	single nucleotide variant	NM_031889.3(ENAM):c.-25G>A	Amelogenesis imperfecta [RCV000368911]	uncertain significance	4	70629476	70629476	Human	2	name , alternate_id
11646233	CV299339	single nucleotide variant	NM_031889.3(ENAM):c.*69T>A	Amelogenesis imperfecta [RCV000269096]\|not provided [RCV004695813]	uncertain significance	4	70644924	70644924	Human	2	name , alternate_id
28899242	CV892105	single nucleotide variant	NM_031889.3(ENAM):c.-45A>G	Amelogenesis imperfecta [RCV001155755]	uncertain significance	4	70629456	70629456	Human	2	name , alternate_id
11661380	CV294075	single nucleotide variant	NM_031889.3(ENAM):c.*605T>C	Amelogenesis imperfecta [RCV000375687]	uncertain significance	4	70645460	70645460	Human	2	name , alternate_id
11651488	CV295522	single nucleotide variant	NM_031889.3(ENAM):c.-218A>G	Amelogenesis imperfecta [RCV000299143]	uncertain significance	4	70628807	70628807	Human	2	name , alternate_id
11653340	CV295534	single nucleotide variant	NM_031889.3(ENAM):c.*156G>A	Amelogenesis imperfecta [RCV000310213]	uncertain significance	4	70645011	70645011	Human	2	name , alternate_id
11594950	CV295535	single nucleotide variant	NM_031889.3(ENAM):c.*264C>G	Amelogenesis imperfecta [RCV000364783]\|not provided [RCV001653680]	benign	4	70645119	70645119	Human	2	name , alternate_id
11583286	CV295539	single nucleotide variant	NM_031889.3(ENAM):c.*342T>C	Amelogenesis imperfecta [RCV000265441]\|not provided [RCV004717533]	benign\|likely benign	4	70645197	70645197	Human	2	name , alternate_id
11661789	CV295542	single nucleotide variant	NM_031889.3(ENAM):c.*422G>T	Amelogenesis imperfecta [RCV000379899]	uncertain significance	4	70645277	70645277	Human	2	name , alternate_id
11651667	CV299289	single nucleotide variant	NM_031889.3(ENAM):c.-111A>T	Amelogenesis imperfecta [RCV000300146]	uncertain significance	4	70628914	70628914	Human	2	name , alternate_id
11592090	CV299321	single nucleotide variant	NM_031889.3(ENAM):c.-123G>A	Amelogenesis imperfecta [RCV000335335]\|not provided [RCV004716269]	benign	4	70628902	70628902	Human	2	name , alternate_id
11663036	CV299322	single nucleotide variant	NM_031889.3(ENAM):c.-112A>G	Amelogenesis imperfecta [RCV000391585]	uncertain significance	4	70628913	70628913	Human	2	name , alternate_id
11593590	CV299340	single nucleotide variant	NM_031889.3(ENAM):c.*985C>T	Amelogenesis imperfecta [RCV000350274]	uncertain significance	4	70645840	70645840	Human	2	name , alternate_id
11644675	CV299343	deletion	NM_031889.3(ENAM):c.*488del	Amelogenesis Imperfecta, Dominant [RCV000261110]	likely benign	4	70645336	70645336	Human	1	name
11590134	CV299347	single nucleotide variant	NM_031889.3(ENAM):c.*584A>T	Amelogenesis imperfecta [RCV000316389]\|not provided [RCV004716270]	benign\|likely benign	4	70645439	70645439	Human	2	name , alternate_id
11585455	CV299348	single nucleotide variant	NM_031889.3(ENAM):c.*687G>C	Amelogenesis imperfecta [RCV000280996]\|not provided [RCV004716271]	benign	4	70645542	70645542	Human	2	name , alternate_id
28892960	CV892133	single nucleotide variant	NM_031889.3(ENAM):c.*222A>G	Amelogenesis imperfecta [RCV001153362]	uncertain significance	4	70645077	70645077	Human	2	name , alternate_id
28892965	CV892134	single nucleotide variant	NM_031889.3(ENAM):c.*256G>A	Amelogenesis imperfecta [RCV001153363]	likely benign	4	70645111	70645111	Human	2	name , alternate_id
28892968	CV892135	single nucleotide variant	NM_031889.3(ENAM):c.*261T>A	Amelogenesis imperfecta [RCV001153364]	uncertain significance	4	70645116	70645116	Human	2	name , alternate_id
28899770	CV892136	single nucleotide variant	NM_031889.3(ENAM):c.*459T>C	Amelogenesis imperfecta [RCV001155968]	uncertain significance	4	70645314	70645314	Human	2	name , alternate_id
28899772	CV892137	single nucleotide variant	NM_031889.3(ENAM):c.*518A>G	Amelogenesis imperfecta [RCV001155969]	uncertain significance	4	70645373	70645373	Human	2	name , alternate_id
28899775	CV892138	single nucleotide variant	NM_031889.3(ENAM):c.*653T>A	Amelogenesis imperfecta [RCV001155970]	uncertain significance	4	70645508	70645508	Human	2	name , alternate_id
28903698	CV892139	single nucleotide variant	NM_031889.3(ENAM):c.*680T>C	Amelogenesis imperfecta [RCV001157678]	uncertain significance	4	70645535	70645535	Human	2	name , alternate_id
28903700	CV892140	single nucleotide variant	NM_031889.3(ENAM):c.*884A>G	Amelogenesis imperfecta [RCV001157679]	uncertain significance	4	70645739	70645739	Human	2	name , alternate_id
28903702	CV892141	single nucleotide variant	NM_031889.3(ENAM):c.*936T>A	Amelogenesis imperfecta [RCV001157680]	likely benign	4	70645791	70645791	Human	5	name , alternate_id
28903702	CV892141	single nucleotide variant	NM_031889.3(ENAM):c.*936T>A	Amelogenesis imperfecta [RCV001157680]	likely benign	4	70645791	70645792	Human	5	name , alternate_id
28903705	CV892142	single nucleotide variant	NM_031889.3(ENAM):c.*986G>A	Amelogenesis imperfecta [RCV001157681]	uncertain significance	4	70645841	70645841	Human	2	name , alternate_id
150407960	CV1182513	deletion	NM_031889.3(ENAM):c.588+1del	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV001554271]\|ENAM-related disorder [RCV003394139]\|not provided [RCV004591549]	pathogenic	4	70637838	70637838	Human	1	name , trait , alternate_id
8557950	CV19275	single nucleotide variant	NM_031889.3(ENAM):c.534+1G>A	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV000004458]	pathogenic	4	70635895	70635895	Human	1	name , alternate_id
11662454	CV294077	duplication	NM_031889.3(ENAM):c.*1078dup	Amelogenesis Imperfecta, Dominant [RCV000386089]	uncertain significance	4	70645931	70645932	Human	1	name
11651048	CV295543	single nucleotide variant	NM_031889.3(ENAM):c.*1211T>G	Amelogenesis imperfecta [RCV000296381]	uncertain significance	4	70646066	70646066	Human	2	name , alternate_id
11593712	CV295545	single nucleotide variant	NM_031889.3(ENAM):c.*1241C>A	Amelogenesis imperfecta [RCV000351348]	uncertain significance	4	70646096	70646096	Human	2	name , alternate_id
11597124	CV295546	single nucleotide variant	NM_031889.3(ENAM):c.*1512G>A	Amelogenesis imperfecta [RCV000390093]\|not provided [RCV004716272]	benign\|likely benign	4	70646367	70646367	Human	2	name , alternate_id
11588520	CV295549	deletion	NM_031889.3(ENAM):c.*1861del	Amelogenesis Imperfecta, Dominant [RCV000303739]	likely benign	4	70646716	70646716	Human	1	name
11586478	CV299341	single nucleotide variant	NM_031889.3(ENAM):c.*1635G>C	Amelogenesis imperfecta [RCV000288305]	benign\|likely benign	4	70646490	70646490	Human	2	name , alternate_id
11593371	CV299350	single nucleotide variant	NM_031889.3(ENAM):c.*1799T>C	Amelogenesis imperfecta [RCV000348074]	benign\|likely benign	4	70646654	70646654	Human	2	name , alternate_id
11597183	CV299352	single nucleotide variant	NM_031889.3(ENAM):c.*1829G>A	Amelogenesis imperfecta [RCV000390886]\|not provided [RCV004716273]	benign\|likely benign	4	70646684	70646684	Human	2	name , alternate_id
616934496	CV4012501	single nucleotide variant	NM_031889.3(ENAM):c.168+5G>A	not specified [RCV005409538]	uncertain significance	4	70631898	70631898	Human		name
12907083	CV414976	duplication	NM_031889.3(ENAM):c.588+1dup	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV003153663]\|not provided [RCV000490006]	pathogenic\|likely pathogenic	4	70637837	70637838	Human	1	name , alternate_id
13528594	CV508753	single nucleotide variant	NM_031889.3(ENAM):c.123+2T>G	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV000608076]	pathogenic	4	70631740	70631740	Human	1	name , alternate_id
28903708	CV892143	single nucleotide variant	NM_031889.3(ENAM):c.*1078C>T	Amelogenesis imperfecta [RCV001157682]	uncertain significance	4	70645933	70645933	Human	2	name , alternate_id
28903711	CV892144	single nucleotide variant	NM_031889.3(ENAM):c.*1079G>A	Amelogenesis imperfecta [RCV001157683]	uncertain significance	4	70645934	70645934	Human	2	name , alternate_id
28889751	CV892145	single nucleotide variant	NM_031889.3(ENAM):c.*1115C>G	Amelogenesis imperfecta [RCV001152198]	uncertain significance	4	70645970	70645970	Human	2	name , alternate_id
28889754	CV892146	single nucleotide variant	NM_031889.3(ENAM):c.*1143G>A	Amelogenesis imperfecta [RCV001152199]	uncertain significance	4	70645998	70645998	Human	2	name , alternate_id
28889758	CV892147	single nucleotide variant	NM_031889.3(ENAM):c.*1374A>G	Amelogenesis imperfecta [RCV001152200]	uncertain significance	4	70646229	70646229	Human	2	name , alternate_id
28889762	CV892148	single nucleotide variant	NM_031889.3(ENAM):c.*1500G>A	Amelogenesis imperfecta [RCV001152201]\|not provided [RCV004711553]	likely benign	4	70646355	70646355	Human	2	name , alternate_id
28889764	CV892149	single nucleotide variant	NM_031889.3(ENAM):c.*1528C>T	Amelogenesis imperfecta [RCV001152202]	uncertain significance	4	70646383	70646383	Human	2	name , alternate_id
28893298	CV892150	single nucleotide variant	NM_031889.3(ENAM):c.*1565A>C	Amelogenesis imperfecta [RCV001153486]	uncertain significance	4	70646420	70646420	Human	2	name , alternate_id
28893303	CV892151	single nucleotide variant	NM_031889.3(ENAM):c.*1717G>T	Amelogenesis imperfecta [RCV001153487]	uncertain significance	4	70646572	70646572	Human	2	name , alternate_id
28893306	CV892152	single nucleotide variant	NM_031889.3(ENAM):c.*1797G>A	Amelogenesis imperfecta [RCV001153488]	uncertain significance	4	70646652	70646652	Human	2	name , alternate_id
28899241	CV895991	single nucleotide variant	NM_031889.3(ENAM):c.-60-4T>A	Amelogenesis imperfecta [RCV001155754]	uncertain significance	4	70629437	70629437	Human	2	name , alternate_id
150430221	CV999998	single nucleotide variant	NM_031889.3(ENAM):c.-61+1G>A	Amelogenesis imperfecta [RCV001615152]	pathogenic	4	70628965	70628965	Human	2	name , alternate_id
150516841	CV1227280	single nucleotide variant	NM_031889.3(ENAM):c.534+63A>G	not provided [RCV001639380]	benign	4	70635957	70635957	Human		name
150465733	CV1255082	single nucleotide variant	NM_031889.3(ENAM):c.169-65G>A	not provided [RCV001670255]	benign	4	70632586	70632586	Human		name
150453698	CV1276884	single nucleotide variant	NM_031889.3(ENAM):c.55-300A>C	not provided [RCV001708674]	benign	4	70631370	70631370	Human		name
150454324	CV1232249	single nucleotide variant	NM_031889.3(ENAM):c.589-265A>G	not provided [RCV001648262]	benign	4	70641750	70641750	Human		name
150491679	CV1239318	single nucleotide variant	NM_031889.3(ENAM):c.534+133T>C	not provided [RCV001654886]	benign	4	70636027	70636027	Human		name
150455176	CV1259830	single nucleotide variant	NM_031889.3(ENAM):c.535-311G>T	not provided [RCV001681309]	benign	4	70637479	70637479	Human		name
150468988	CV1268020	single nucleotide variant	NM_031889.3(ENAM):c.588+226A>C	not provided [RCV001694883]	benign	4	70638069	70638069	Human		name
11654791	CV295541	insertion	NM_031889.3(ENAM):c.421_422insT	Amelogenesis Imperfecta, Dominant [RCV000320651]	uncertain significance	4	70645276	70645277	Human	1	name
329395057	CV2457784	single nucleotide variant	NM_031889.3(ENAM):c.18C>G (p.Cys6Trp)	Inborn genetic diseases [RCV003194054]	uncertain significance	4	70629518	70629518	Human	1	name
405284102	CV3200418	single nucleotide variant	NM_031889.3(ENAM):c.234T>C (p.Phe78=)	ENAM-related disorder [RCV003979452]	likely benign	4	70634331	70634331	Human		name , trait , alternate_id
15195657	CV721056	single nucleotide variant	NM_031889.3(ENAM):c.177G>T (p.Arg59=)	Amelogenesis imperfecta [RCV001155757]\|not provided [RCV000889563]	benign\|likely benign	4	70632659	70632659	Human	2	name , alternate_id
401911750	CV2795892	deletion	NM_031889.3(ENAM):c.107del (p.Asn36fs)	ENAM-related disorder [RCV003399631]	likely pathogenic	4	70631721	70631721	Human		name , trait , alternate_id
11595391	CV295523	single nucleotide variant	NM_031889.3(ENAM):c.888C>T (p.Asn296=)	Amelogenesis imperfecta [RCV000369881]	uncertain significance	4	70642314	70642314	Human	2	name , alternate_id
596925433	CV3535780	single nucleotide variant	NM_031889.3(ENAM):c.79C>A (p.Leu27Ile)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV004788210]	uncertain significance	4	70631694	70631694	Human	1	name , alternate_id
12854317	CV361835	single nucleotide variant	NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV000449635]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	4	70631707	70631707	Human	1	name , alternate_id
28899244	CV892106	single nucleotide variant	NM_031889.3(ENAM):c.76A>T (p.Ile26Phe)	Amelogenesis imperfecta [RCV001155756]	uncertain significance	4	70631691	70631691	Human	2	name , alternate_id
28903218	CV892112	single nucleotide variant	NM_031889.3(ENAM):c.549A>G (p.Pro183=)	Amelogenesis imperfecta [RCV001157466]	uncertain significance	4	70637804	70637804	Human	2	name , alternate_id
28903220	CV892113	single nucleotide variant	NM_031889.3(ENAM):c.588G>C (p.Gly196=)	Amelogenesis imperfecta [RCV001157467]	uncertain significance	4	70637843	70637843	Human	2	name , alternate_id
8557951	CV19276	single nucleotide variant	NM_031889.3(ENAM):c.157A>T (p.Lys53Ter)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV000004459]	pathogenic	4	70631882	70631882	Human	1	name , alternate_id
156279117	CV2210113	single nucleotide variant	NM_031889.3(ENAM):c.142C>T (p.Pro48Ser)	Inborn genetic diseases [RCV002670039]	uncertain significance	4	70631867	70631867	Human	1	name
156253908	CV2325577	single nucleotide variant	NM_031889.3(ENAM):c.202G>A (p.Gly68Ser)	Inborn genetic diseases [RCV002959338]	likely benign	4	70632684	70632684	Human	1	name
243054433	CV2418959	single nucleotide variant	NM_031889.3(ENAM):c.101T>C (p.Leu34Pro)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV003154642]	uncertain significance	4	70631716	70631716	Human	1	name , alternate_id
329381448	CV2437491	single nucleotide variant	NM_031889.3(ENAM):c.112G>T (p.Val38Phe)	Inborn genetic diseases [RCV003175710]	uncertain significance	4	70631727	70631727	Human	1	name
329388907	CV2448488	single nucleotide variant	NM_031889.3(ENAM):c.241G>A (p.Gly81Ser)	Inborn genetic diseases [RCV003190854]	uncertain significance	4	70634338	70634338	Human	1	name
401751643	CV2727085	single nucleotide variant	NM_031889.3(ENAM):c.214G>A (p.Ala72Thr)	Inborn genetic diseases [RCV003295568]	uncertain significance	4	70634311	70634311	Human	1	name
11591106	CV295526	single nucleotide variant	NM_031889.3(ENAM):c.1080G>A (p.Arg360=)	Amelogenesis imperfecta [RCV000325725]	uncertain significance	4	70642506	70642506	Human	2	name , alternate_id
11586341	CV299293	single nucleotide variant	NM_031889.3(ENAM):c.2172G>A (p.Pro724=)	Amelogenesis imperfecta [RCV000287030]	uncertain significance	4	70643598	70643598	Human	2	name , alternate_id
11592730	CV299324	single nucleotide variant	NM_031889.3(ENAM):c.2241C>T (p.Tyr747=)	Amelogenesis imperfecta [RCV000341632]\|not provided [RCV001643061]	benign\|likely benign	4	70643667	70643667	Human	2	name , alternate_id
405756645	CV3245078	single nucleotide variant	NM_031889.3(ENAM):c.143C>G (p.Pro48Arg)	Inborn genetic diseases [RCV004382710]	uncertain significance	4	70631868	70631868	Human	1	name
405756633	CV3245080	single nucleotide variant	NM_031889.3(ENAM):c.218A>G (p.His73Arg)	Inborn genetic diseases [RCV004382712]	uncertain significance	4	70634315	70634315	Human	1	name
597667964	CV3667932	single nucleotide variant	NM_031889.3(ENAM):c.179A>G (p.Tyr60Cys)	Inborn genetic diseases [RCV004979793]	uncertain significance	4	70632661	70632661	Human	1	name
15196554	CV698619	single nucleotide variant	NM_031889.3(ENAM):c.1926C>T (p.Thr642=)	Amelogenesis imperfecta [RCV001155851]\|ENAM-related disorder [RCV003915906]\|not provided [RCV000956221]	benign	4	70643352	70643352	Human	2	name , trait , alternate_id
15131716	CV734702	single nucleotide variant	NM_031889.3(ENAM):c.1389G>A (p.Gln463=)	not provided [RCV000897824]	likely benign	4	70642815	70642815	Human		name
15203062	CV749047	single nucleotide variant	NM_031889.3(ENAM):c.251A>G (p.Gln84Arg)	not provided [RCV000913698]	likely benign	4	70634348	70634348	Human		name
15202505	CV749048	single nucleotide variant	NM_031889.3(ENAM):c.2205T>C (p.Ser735=)	Amelogenesis imperfecta [RCV001155854]\|not provided [RCV000913447]	likely benign\|uncertain significance	4	70643631	70643631	Human	2	name , alternate_id
15194229	CV749049	single nucleotide variant	NM_031889.3(ENAM):c.2322G>A (p.Gly774=)	not provided [RCV000911065]	likely benign	4	70643748	70643748	Human		name
15115424	CV782028	single nucleotide variant	NM_031889.3(ENAM):c.2271C>T (p.Ser757=)	not provided [RCV000978401]	likely benign	4	70643697	70643697	Human		name
8631262	CV86422	single nucleotide variant	NM_031889.2(ENAM):c.2556C>T (p.Ile852=)	Malignant melanoma [RCV000066513]	not provided	4	70643982	70643982	Human		name
28899247	CV892107	single nucleotide variant	NM_031889.3(ENAM):c.233T>C (p.Phe78Ser)	Amelogenesis imperfecta [RCV001155758]	uncertain significance	4	70634330	70634330	Human	2	name , alternate_id
28903209	CV892108	single nucleotide variant	NM_031889.3(ENAM):c.263A>G (p.Gln88Arg)	Amelogenesis imperfecta [RCV001157462]	uncertain significance	4	70634360	70634360	Human	2	name , alternate_id
28892661	CV892121	single nucleotide variant	NM_031889.3(ENAM):c.1827G>A (p.Arg609=)	Amelogenesis imperfecta [RCV001153256]	uncertain significance	4	70643253	70643253	Human	2	name , alternate_id
28899486	CV892122	single nucleotide variant	NM_031889.3(ENAM):c.1893G>A (p.Gly631=)	Amelogenesis imperfecta [RCV001155850]\|not provided [RCV004694987]	uncertain significance	4	70643319	70643319	Human	2	name , alternate_id
28903418	CV892127	single nucleotide variant	NM_031889.3(ENAM):c.2736C>T (p.Asp912=)	Amelogenesis imperfecta [RCV001157553]	uncertain significance	4	70644162	70644162	Human	2	name , alternate_id
28889424	CV892129	single nucleotide variant	NM_031889.3(ENAM):c.2979T>C (p.Asp993=)	Amelogenesis imperfecta [RCV001152093]	uncertain significance	4	70644405	70644405	Human	2	name , alternate_id
28889426	CV892130	single nucleotide variant	NM_031889.3(ENAM):c.2994G>T (p.Leu998=)	Amelogenesis imperfecta [RCV001152094]\|not provided [RCV003433046]	likely benign\|uncertain significance	4	70644420	70644420	Human	2	name , alternate_id
156222138	CV2208916	single nucleotide variant	NM_031889.3(ENAM):c.506A>G (p.Tyr169Cys)	Inborn genetic diseases [RCV002712196]	uncertain significance	4	70635866	70635866	Human	1	name
156094967	CV2252993	single nucleotide variant	NM_031889.3(ENAM):c.335G>A (p.Arg112His)	Inborn genetic diseases [RCV002798750]	likely benign	4	70634432	70634432	Human	1	name
156064589	CV2272437	single nucleotide variant	NM_031889.3(ENAM):c.935G>C (p.Ser312Thr)	Inborn genetic diseases [RCV002823097]	uncertain significance	4	70642361	70642361	Human	1	name
156288046	CV2301302	single nucleotide variant	NM_031889.3(ENAM):c.586G>T (p.Gly196Trp)	Inborn genetic diseases [RCV002896968]	uncertain significance	4	70637841	70637841	Human	1	name
155976261	CV2324641	single nucleotide variant	NM_031889.3(ENAM):c.298A>G (p.Asn100Asp)	Inborn genetic diseases [RCV002907376]	uncertain significance	4	70634395	70634395	Human	1	name
243054434	CV2418960	single nucleotide variant	NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV003154643]	pathogenic	4	70642090	70642090	Human	1	name , alternate_id
401857445	CV2759216	single nucleotide variant	NM_031889.3(ENAM):c.631C>T (p.Arg211Cys)	Inborn genetic diseases [RCV003341326]	uncertain significance	4	70642057	70642057	Human	1	name
401896311	CV2773968	single nucleotide variant	NM_031889.3(ENAM):c.791G>A (p.Gly264Glu)	Inborn genetic diseases [RCV003373918]	uncertain significance	4	70642217	70642217	Human	1	name
11590050	CV294068	single nucleotide variant	NM_031889.3(ENAM):c.871C>T (p.Pro291Ser)	Amelogenesis imperfecta [RCV000315350]	uncertain significance	4	70642297	70642297	Human	2	name , alternate_id
11646442	CV295524	single nucleotide variant	NM_031889.3(ENAM):c.899A>G (p.Gln300Arg)	Amelogenesis imperfecta [RCV000270619]	uncertain significance	4	70642325	70642325	Human	2	name , alternate_id
11584520	CV299323	single nucleotide variant	NM_031889.3(ENAM):c.584G>T (p.Gly195Val)	Amelogenesis imperfecta [RCV000274316]	uncertain significance	4	70637839	70637839	Human	2	name , alternate_id
405289341	CV3205119	single nucleotide variant	NM_031889.3(ENAM):c.3210C>T (p.Thr1070=)	ENAM-related disorder [RCV003961724]	likely benign	4	70644636	70644636	Human		name , trait , alternate_id
405756592	CV3245087	single nucleotide variant	NM_031889.3(ENAM):c.587G>T (p.Gly196Val)	Inborn genetic diseases [RCV004382719]	uncertain significance	4	70637842	70637842	Human	1	name
405756585	CV3245088	single nucleotide variant	NM_031889.3(ENAM):c.766C>A (p.Pro256Thr)	Inborn genetic diseases [RCV004382720]	uncertain significance	4	70642192	70642192	Human	1	name
407507164	CV3435029	single nucleotide variant	NM_031889.3(ENAM):c.397C>T (p.Pro133Ser)	Inborn genetic diseases [RCV004625004]	uncertain significance	4	70634494	70634494	Human	1	name
597667882	CV3667914	single nucleotide variant	NM_031889.3(ENAM):c.377A>G (p.Asn126Ser)	Inborn genetic diseases [RCV004979777]	uncertain significance	4	70634474	70634474	Human	1	name
597667987	CV3667936	single nucleotide variant	NM_031889.3(ENAM):c.625G>A (p.Gly209Arg)	Inborn genetic diseases [RCV004979797]	uncertain significance	4	70642051	70642051	Human	1	name
598218986	CV3895589	single nucleotide variant	NM_031889.3(ENAM):c.889G>A (p.Ala297Thr)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV005360436]	uncertain significance	4	70642315	70642315	Human	1	name , alternate_id
598269032	CV3954155	single nucleotide variant	NM_031889.3(ENAM):c.843C>A (p.Asn281Lys)	Inborn genetic diseases [RCV005327230]	uncertain significance	4	70642269	70642269	Human	1	name
598269065	CV3954163	single nucleotide variant	NM_031889.3(ENAM):c.800C>T (p.Thr267Ile)	Inborn genetic diseases [RCV005327238]	uncertain significance	4	70642226	70642226	Human	1	name
598176913	CV4008209	single nucleotide variant	NM_031889.3(ENAM):c.451G>C (p.Glu151Gln)	Amelogenesis imperfecta type 1C [RCV005393725]	uncertain significance	4	70634548	70634548	Human	1	name , alternate_id
12893428	CV406459	deletion	NM_031889.3(ENAM):c.2763del (p.Asp921fs)	Amelogenesis imperfecta type 1C [RCV005355923]\|not provided [RCV000478971]	pathogenic\|likely pathogenic	4	70644189	70644189	Human	1	name , alternate_id
15116746	CV709438	single nucleotide variant	NM_031889.3(ENAM):c.3225C>T (p.Ser1075=)	not provided [RCV000962088]	benign	4	70644651	70644651	Human		name
28903212	CV892109	single nucleotide variant	NM_031889.3(ENAM):c.332A>C (p.Lys111Thr)	Amelogenesis imperfecta [RCV001157463]	uncertain significance	4	70634429	70634429	Human	2	name , alternate_id
28903215	CV892110	single nucleotide variant	NM_031889.3(ENAM):c.481C>G (p.Pro161Ala)	Amelogenesis imperfecta [RCV001157464]	uncertain significance	4	70635841	70635841	Human	2	name , alternate_id
28903216	CV892111	single nucleotide variant	NM_031889.3(ENAM):c.539T>C (p.Leu180Ser)	Amelogenesis imperfecta [RCV001157465]	uncertain significance	4	70637794	70637794	Human	2	name , alternate_id
28903221	CV892114	single nucleotide variant	NM_031889.3(ENAM):c.632G>A (p.Arg211His)	Amelogenesis imperfecta [RCV001157468]	uncertain significance	4	70642058	70642058	Human	2	name , alternate_id
28889127	CV892115	single nucleotide variant	NM_031889.3(ENAM):c.637C>T (p.Pro213Ser)	Amelogenesis imperfecta [RCV001151990]	uncertain significance	4	70642063	70642063	Human	2	name , alternate_id
28889130	CV892116	single nucleotide variant	NM_031889.3(ENAM):c.950G>A (p.Arg317His)	Amelogenesis imperfecta [RCV001151991]	uncertain significance	4	70642376	70642376	Human	2	name , alternate_id
28889429	CV892131	single nucleotide variant	NM_031889.3(ENAM):c.3072T>C (p.Pro1024=)	Amelogenesis imperfecta [RCV001152095]\|not provided [RCV003433047]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	70644498	70644498	Human	2	name , alternate_id
126729988	CV1020010	single nucleotide variant	NM_031889.3(ENAM):c.2315C>A (p.Ala772Asp)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV001333302]	uncertain significance	4	70643741	70643741	Human	1	name , alternate_id
126913982	CV1037504	single nucleotide variant	NM_031889.3(ENAM):c.2226G>C (p.Glu742Asp)	not provided [RCV001357866]	uncertain significance	4	70643652	70643652	Human		name
156314273	CV2196619	single nucleotide variant	NM_031889.3(ENAM):c.1934A>G (p.Gln645Arg)	Inborn genetic diseases [RCV002648452]	uncertain significance	4	70643360	70643360	Human	1	name
156071415	CV2201257	single nucleotide variant	NM_031889.3(ENAM):c.2575G>C (p.Gly859Arg)	Inborn genetic diseases [RCV002660262]	uncertain significance	4	70644001	70644001	Human	1	name
156378033	CV2207617	single nucleotide variant	NM_031889.3(ENAM):c.2136G>T (p.Glu712Asp)	Inborn genetic diseases [RCV002678137]	uncertain significance	4	70643562	70643562	Human	1	name
156271576	CV2237234	single nucleotide variant	NM_031889.3(ENAM):c.2540C>T (p.Ser847Phe)	Inborn genetic diseases [RCV002792508]	uncertain significance	4	70643966	70643966	Human	1	name
156248120	CV2263944	single nucleotide variant	NM_031889.3(ENAM):c.1757A>G (p.His586Arg)	Inborn genetic diseases [RCV002830949]	uncertain significance	4	70643183	70643183	Human	1	name
156027075	CV2278404	single nucleotide variant	NM_031889.3(ENAM):c.1717T>A (p.Ser573Thr)	Inborn genetic diseases [RCV002845102]	uncertain significance	4	70643143	70643143	Human	1	name
155919836	CV2279485	single nucleotide variant	NM_031889.3(ENAM):c.1361C>T (p.Pro454Leu)	Inborn genetic diseases [RCV002859508]	uncertain significance	4	70642787	70642787	Human	1	name
156204537	CV2314164	single nucleotide variant	NM_031889.3(ENAM):c.1222C>T (p.Pro408Ser)	Inborn genetic diseases [RCV002893358]	uncertain significance	4	70642648	70642648	Human	1	name
156395276	CV2325377	single nucleotide variant	NM_031889.3(ENAM):c.1639G>T (p.Val547Leu)	Inborn genetic diseases [RCV002944488]	uncertain significance	4	70643065	70643065	Human	1	name
156328456	CV2332256	single nucleotide variant	NM_031889.3(ENAM):c.2078C>T (p.Ser693Leu)	Inborn genetic diseases [RCV002963884]	uncertain significance	4	70643504	70643504	Human	1	name
156152336	CV2377617	single nucleotide variant	NM_031889.3(ENAM):c.2426A>G (p.Tyr809Cys)	Inborn genetic diseases [RCV002709732]	uncertain significance	4	70643852	70643852	Human	1	name
329381816	CV2424229	single nucleotide variant	NM_031889.3(ENAM):c.1379A>G (p.Asn460Ser)	Inborn genetic diseases [RCV003188235]	uncertain significance	4	70642805	70642805	Human	1	name
329356108	CV2442378	single nucleotide variant	NM_031889.3(ENAM):c.2484T>A (p.Asn828Lys)	Inborn genetic diseases [RCV003203049]	uncertain significance	4	70643910	70643910	Human	1	name
11547390	CV251558	single nucleotide variant	NM_031889.3(ENAM):c.1943T>C (p.Ile648Thr)	Amelogenesis imperfecta [RCV000322220]\|not provided [RCV001668593]\|not specified [RCV000247696]	benign	4	70643369	70643369	Human	2	name , alternate_id
11550981	CV251559	single nucleotide variant	NM_031889.3(ENAM):c.2288G>A (p.Arg763Gln)	Amelogenesis imperfecta [RCV000372985]\|not provided [RCV001711736]\|not specified [RCV000252455]	benign\|likely benign	4	70643714	70643714	Human	2	name , alternate_id
401769596	CV2689845	single nucleotide variant	NM_031889.3(ENAM):c.2173G>T (p.Asp725Tyr)	Inborn genetic diseases [RCV003260625]	uncertain significance	4	70643599	70643599	Human	1	name
401730491	CV2711350	single nucleotide variant	NM_031889.3(ENAM):c.2081A>G (p.Asn694Ser)	Inborn genetic diseases [RCV003271407]	uncertain significance	4	70643507	70643507	Human	1	name
401738674	CV2721947	single nucleotide variant	NM_031889.3(ENAM):c.2963A>G (p.Asn988Ser)	Inborn genetic diseases [RCV003273803]	likely benign	4	70644389	70644389	Human	1	name
401886935	CV2767965	single nucleotide variant	NM_031889.3(ENAM):c.2356A>G (p.Ile786Val)	Inborn genetic diseases [RCV003352171]	uncertain significance	4	70643782	70643782	Human	1	name
401859513	CV2771668	single nucleotide variant	NM_031889.3(ENAM):c.1874A>G (p.Asp625Gly)	Inborn genetic diseases [RCV003357127]	uncertain significance	4	70643300	70643300	Human	1	name
401887425	CV2771931	single nucleotide variant	NM_031889.3(ENAM):c.2323C>G (p.Gln775Glu)	Inborn genetic diseases [RCV003352380]	uncertain significance	4	70643749	70643749	Human	1	name
401878262	CV2774079	single nucleotide variant	NM_031889.3(ENAM):c.1078C>T (p.Arg360Trp)	Inborn genetic diseases [RCV003363833]	uncertain significance	4	70642504	70642504	Human	1	name
401884782	CV2774558	single nucleotide variant	NM_031889.3(ENAM):c.1083G>C (p.Trp361Cys)	Inborn genetic diseases [RCV003366307]	uncertain significance	4	70642509	70642509	Human	1	name
401865500	CV2786071	single nucleotide variant	NM_031889.3(ENAM):c.2590C>T (p.His864Tyr)	Inborn genetic diseases [RCV003379380]	uncertain significance	4	70644016	70644016	Human	1	name
401872234	CV2793045	single nucleotide variant	NM_031889.3(ENAM):c.1562T>C (p.Val521Ala)	Inborn genetic diseases [RCV003381776]	uncertain significance	4	70642988	70642988	Human	1	name
401933848	CV2799768	single nucleotide variant	NM_031889.3(ENAM):c.2169C>G (p.Ser723Arg)	ENAM-related disorder [RCV003410635]	uncertain significance	4	70643595	70643595	Human		name , trait , alternate_id
11634733	CV295533	single nucleotide variant	NM_031889.3(ENAM):c.1726T>C (p.Phe576Leu)	Amelogenesis imperfecta [RCV000271848]\|not provided [RCV001643060]	benign\|likely benign	4	70643152	70643152	Human	2	name , alternate_id
11596661	CV299290	single nucleotide variant	NM_031889.3(ENAM):c.1103G>A (p.Arg368His)	Amelogenesis imperfecta [RCV000384987]	uncertain significance	4	70642529	70642529	Human	2	name , alternate_id
11595976	CV299292	single nucleotide variant	NM_031889.3(ENAM):c.1945G>A (p.Val649Ile)	Amelogenesis imperfecta [RCV000376830]	uncertain significance	4	70643371	70643371	Human	2	name , alternate_id
11664585	CV299300	single nucleotide variant	NM_031889.3(ENAM):c.2749A>C (p.Lys917Gln)	Amelogenesis imperfecta [RCV000406726]\|not provided [RCV001850854]	uncertain significance	4	70644175	70644175	Human	2	name , alternate_id
11585092	CV299325	single nucleotide variant	NM_031889.3(ENAM):c.2573C>T (p.Ser858Leu)	Amelogenesis imperfecta [RCV000278450]	uncertain significance	4	70643999	70643999	Human	2	name , alternate_id
11592374	CV299326	single nucleotide variant	NM_031889.3(ENAM):c.2686T>A (p.Tyr896Asn)	Amelogenesis imperfecta [RCV000338150]	uncertain significance	4	70644112	70644112	Human	2	name , alternate_id
405268651	CV3201098	single nucleotide variant	NM_031889.3(ENAM):c.1025G>A (p.Gly342Glu)	ENAM-related disorder [RCV003899207]	uncertain significance	4	70642451	70642451	Human		name , trait , alternate_id
405756657	CV3245076	single nucleotide variant	NM_031889.3(ENAM):c.1032A>T (p.Arg344Ser)	Inborn genetic diseases [RCV004382708]	uncertain significance	4	70642458	70642458	Human	1	name
405756650	CV3245077	single nucleotide variant	NM_031889.3(ENAM):c.1132G>A (p.Val378Ile)	Inborn genetic diseases [RCV004382709]	likely benign	4	70642558	70642558	Human	1	name
405756639	CV3245079	single nucleotide variant	NM_031889.3(ENAM):c.2108C>A (p.Ser703Tyr)	Inborn genetic diseases [RCV004382711]	uncertain significance	4	70643534	70643534	Human	1	name
405756628	CV3245081	single nucleotide variant	NM_031889.3(ENAM):c.2375A>G (p.His792Arg)	Inborn genetic diseases [RCV004382713]	uncertain significance	4	70643801	70643801	Human	1	name
405756623	CV3245082	single nucleotide variant	NM_031889.3(ENAM):c.2620T>C (p.Cys874Arg)	Inborn genetic diseases [RCV004382714]	uncertain significance	4	70644046	70644046	Human	1	name
405756615	CV3245083	single nucleotide variant	NM_031889.3(ENAM):c.2680C>G (p.Pro894Ala)	Inborn genetic diseases [RCV004382715]	uncertain significance	4	70644106	70644106	Human	1	name
407507157	CV3435025	single nucleotide variant	NM_031889.3(ENAM):c.2953T>C (p.Cys985Arg)	Inborn genetic diseases [RCV004625000]	uncertain significance	4	70644379	70644379	Human	1	name
407507159	CV3435026	single nucleotide variant	NM_031889.3(ENAM):c.2242G>A (p.Val748Ile)	Inborn genetic diseases [RCV004625001]	uncertain significance	4	70643668	70643668	Human	1	name
407507161	CV3435027	single nucleotide variant	NM_031889.3(ENAM):c.2215C>T (p.Pro739Ser)	Inborn genetic diseases [RCV004625002]	uncertain significance	4	70643641	70643641	Human	1	name
407507163	CV3435028	single nucleotide variant	NM_031889.3(ENAM):c.1389G>T (p.Gln463His)	Inborn genetic diseases [RCV004625003]	uncertain significance	4	70642815	70642815	Human	1	name
407507166	CV3435030	single nucleotide variant	NM_031889.3(ENAM):c.2983A>G (p.Asn995Asp)	Inborn genetic diseases [RCV004625005]	uncertain significance	4	70644409	70644409	Human	1	name
407507168	CV3435031	single nucleotide variant	NM_031889.3(ENAM):c.2132G>A (p.Arg711Lys)	Inborn genetic diseases [RCV004625006]	uncertain significance	4	70643558	70643558	Human	1	name
407507172	CV3435033	single nucleotide variant	NM_031889.3(ENAM):c.1753G>C (p.Glu585Gln)	Inborn genetic diseases [RCV004625008]	uncertain significance	4	70643179	70643179	Human	1	name
407574131	CV3498480	single nucleotide variant	NM_031889.3(ENAM):c.1776T>A (p.His592Gln)	not specified [RCV004702955]	uncertain significance	4	70643202	70643202	Human		name
408380968	CV3523719	single nucleotide variant	NM_031889.3(ENAM):c.1587T>G (p.Tyr529Ter)	not provided [RCV004766117]	uncertain significance	4	70643013	70643013	Human		name
597667870	CV3667912	single nucleotide variant	NM_031889.3(ENAM):c.1747C>A (p.Gln583Lys)	Inborn genetic diseases [RCV004979775]	uncertain significance	4	70643173	70643173	Human	1	name
597667876	CV3667913	single nucleotide variant	NM_031889.3(ENAM):c.1208G>T (p.Arg403Ile)	Inborn genetic diseases [RCV004979776]	uncertain significance	4	70642634	70642634	Human	1	name
597667885	CV3667915	single nucleotide variant	NM_031889.3(ENAM):c.2760A>T (p.Arg920Ser)	Inborn genetic diseases [RCV004979778]	uncertain significance	4	70644186	70644186	Human	1	name
597667891	CV3667916	single nucleotide variant	NM_031889.3(ENAM):c.1112T>G (p.Val371Gly)	Inborn genetic diseases [RCV004979779]	uncertain significance	4	70642538	70642538	Human	1	name
597667900	CV3667919	single nucleotide variant	NM_031889.3(ENAM):c.1304A>C (p.Asn435Thr)	Inborn genetic diseases [RCV004979781]	uncertain significance	4	70642730	70642730	Human	1	name
597667905	CV3667920	single nucleotide variant	NM_031889.3(ENAM):c.2633G>A (p.Ser878Asn)	Inborn genetic diseases [RCV004979782]	uncertain significance	4	70644059	70644059	Human	1	name
597667909	CV3667921	single nucleotide variant	NM_031889.3(ENAM):c.2977G>A (p.Asp993Asn)	Inborn genetic diseases [RCV004979783]	uncertain significance	4	70644403	70644403	Human	1	name
597667918	CV3667923	single nucleotide variant	NM_031889.3(ENAM):c.2117A>T (p.Asn706Ile)	Inborn genetic diseases [RCV004979785]	uncertain significance	4	70643543	70643543	Human	1	name
597667924	CV3667924	single nucleotide variant	NM_031889.3(ENAM):c.1531A>G (p.Thr511Ala)	Inborn genetic diseases [RCV004979786]	uncertain significance	4	70642957	70642957	Human	1	name
597667930	CV3667925	single nucleotide variant	NM_031889.3(ENAM):c.2170C>A (p.Pro724Thr)	Inborn genetic diseases [RCV004979787]	uncertain significance	4	70643596	70643596	Human	1	name
597667935	CV3667926	single nucleotide variant	NM_031889.3(ENAM):c.2333G>C (p.Arg778Thr)	Inborn genetic diseases [RCV004979788]	uncertain significance	4	70643759	70643759	Human	1	name
597667939	CV3667927	single nucleotide variant	NM_031889.3(ENAM):c.1910T>C (p.Leu637Pro)	Inborn genetic diseases [RCV004979789]	uncertain significance	4	70643336	70643336	Human	1	name
597667945	CV3667929	single nucleotide variant	NM_031889.3(ENAM):c.2126A>T (p.Lys709Ile)	Inborn genetic diseases [RCV004979790]	uncertain significance	4	70643552	70643552	Human	1	name
597667952	CV3667930	single nucleotide variant	NM_031889.3(ENAM):c.2662G>T (p.Ala888Ser)	Inborn genetic diseases [RCV004979791]	uncertain significance	4	70644088	70644088	Human	1	name
597667958	CV3667931	single nucleotide variant	NM_031889.3(ENAM):c.1087T>A (p.Phe363Ile)	Inborn genetic diseases [RCV004979792]	uncertain significance	4	70642513	70642513	Human	1	name
597667970	CV3667933	single nucleotide variant	NM_031889.3(ENAM):c.1189A>C (p.Asn397His)	Inborn genetic diseases [RCV004979794]	uncertain significance	4	70642615	70642615	Human	1	name
597667976	CV3667934	single nucleotide variant	NM_031889.3(ENAM):c.1744A>T (p.Arg582Trp)	Inborn genetic diseases [RCV004979795]	uncertain significance	4	70643170	70643170	Human	1	name
597667982	CV3667935	single nucleotide variant	NM_031889.3(ENAM):c.1616A>G (p.Lys539Arg)	Inborn genetic diseases [RCV004979796]	uncertain significance	4	70643042	70643042	Human	1	name
597931518	CV3863519	deletion	NM_031889.3(ENAM):c.3006del (p.Phe1002fs)	not provided [RCV005205844]	uncertain significance	4	70644428	70644428	Human		name
598269035	CV3954156	single nucleotide variant	NM_031889.3(ENAM):c.2672A>T (p.Asp891Val)	Inborn genetic diseases [RCV005327231]	uncertain significance	4	70644098	70644098	Human	1	name
598269038	CV3954157	single nucleotide variant	NM_031889.3(ENAM):c.2393C>G (p.Ala798Gly)	Inborn genetic diseases [RCV005327232]	uncertain significance	4	70643819	70643819	Human	1	name
598269045	CV3954159	single nucleotide variant	NM_031889.3(ENAM):c.2699C>G (p.Pro900Arg)	Inborn genetic diseases [RCV005327234]	uncertain significance	4	70644125	70644125	Human	1	name
598269060	CV3954162	single nucleotide variant	NM_031889.3(ENAM):c.1853A>T (p.Asn618Ile)	Inborn genetic diseases [RCV005327237]	uncertain significance	4	70643279	70643279	Human	1	name
598269067	CV3954164	single nucleotide variant	NM_031889.3(ENAM):c.1391A>G (p.Tyr464Cys)	Inborn genetic diseases [RCV005327239]	uncertain significance	4	70642817	70642817	Human	1	name
598269072	CV3954165	single nucleotide variant	NM_031889.3(ENAM):c.1513C>T (p.Pro505Ser)	Inborn genetic diseases [RCV005327240]	uncertain significance	4	70642939	70642939	Human	1	name
598269075	CV3954166	single nucleotide variant	NM_031889.3(ENAM):c.2978A>G (p.Asp993Gly)	Inborn genetic diseases [RCV005327241]	uncertain significance	4	70644404	70644404	Human	1	name
598269079	CV3954167	single nucleotide variant	NM_031889.3(ENAM):c.1447C>A (p.Pro483Thr)	Inborn genetic diseases [RCV005327242]	uncertain significance	4	70642873	70642873	Human	1	name
13509367	CV481537	single nucleotide variant	NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter)	Amelogenesis imperfecta type 1C [RCV000578483]	pathogenic	4	70643268	70643268	Human	1	name
14693747	CV620174	single nucleotide variant	NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter)	Amelogenesis imperfecta [RCV000779452]	uncertain significance	4	70644114	70644114	Human	1	name , alternate_id
15196551	CV698618	single nucleotide variant	NM_031889.3(ENAM):c.1165G>A (p.Gly389Ser)	Amelogenesis imperfecta [RCV001153250]\|not provided [RCV000956220]	benign\|likely benign	4	70642591	70642591	Human	2	name , alternate_id
15167333	CV721057	single nucleotide variant	NM_031889.3(ENAM):c.1181A>T (p.Tyr394Phe)	Amelogenesis imperfecta [RCV001153251]\|ENAM-related disorder [RCV003940462]\|not provided [RCV000882826]	likely benign\|uncertain significance	4	70642607	70642607	Human	2	name , trait , alternate_id
15159651	CV721058	single nucleotide variant	NM_031889.3(ENAM):c.1396G>A (p.Val466Ile)	Amelogenesis imperfecta [RCV001153254]\|not provided [RCV000881234]	benign\|uncertain significance	4	70642822	70642822	Human	2	name , alternate_id
15199072	CV749050	single nucleotide variant	NM_031889.3(ENAM):c.2837G>C (p.Arg946Thr)	not provided [RCV000912439]	benign	4	70644263	70644263	Human		name
8631260	CV86420	single nucleotide variant	NM_031889.2(ENAM):c.2059G>A (p.Glu687Lys)	Malignant melanoma [RCV000066511]	not provided	4	70643485	70643485	Human		name
8631261	CV86421	single nucleotide variant	NM_031889.2(ENAM):c.2170C>T (p.Pro724Ser)	Malignant melanoma [RCV000066512]	not provided	4	70643596	70643596	Human		name
28889133	CV892117	single nucleotide variant	NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser)	Amelogenesis imperfecta [RCV001151992]	uncertain significance	4	70642498	70642498	Human	2	name , alternate_id
28892751	CV892118	single nucleotide variant	NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg)	Amelogenesis imperfecta [RCV001153252]	uncertain significance	4	70642691	70642691	Human	2	name , alternate_id
28892649	CV892119	single nucleotide variant	NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser)	Amelogenesis imperfecta [RCV001153253]	uncertain significance	4	70642715	70642715	Human	2	name , alternate_id
28892657	CV892120	single nucleotide variant	NM_031889.3(ENAM):c.1656C>G (p.Ile552Met)	Amelogenesis imperfecta [RCV001153255]\|not provided [RCV004694958]	uncertain significance	4	70643082	70643082	Human	2	name , alternate_id
28899490	CV892123	single nucleotide variant	NM_031889.3(ENAM):c.2153A>C (p.Glu718Ala)	Amelogenesis imperfecta [RCV001155852]	uncertain significance	4	70643579	70643579	Human	2	name , alternate_id
28899491	CV892124	single nucleotide variant	NM_031889.3(ENAM):c.2171C>T (p.Pro724Leu)	Amelogenesis imperfecta [RCV001155853]\|not provided [RCV004717768]	benign	4	70643597	70643597	Human	2	name , alternate_id
28903413	CV892125	single nucleotide variant	NM_031889.3(ENAM):c.2369C>A (p.Ala790Glu)	Amelogenesis imperfecta [RCV001157551]	uncertain significance	4	70643795	70643795	Human	2	name , alternate_id
28903415	CV892126	single nucleotide variant	NM_031889.3(ENAM):c.2397G>T (p.Arg799Ser)	Amelogenesis imperfecta [RCV001157552]\|Inborn genetic diseases [RCV002558380]	likely benign\|uncertain significance	4	70643823	70643823	Human	3	name , alternate_id
28889421	CV892128	single nucleotide variant	NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys)	Amelogenesis imperfecta [RCV001152092]	uncertain significance	4	70644242	70644242	Human	2	name , alternate_id
150440460	CV1266918	insertion	NM_031889.3(ENAM):c.534+161_534+162insGAGA	not provided [RCV001690354]	benign	4	70636054	70636055	Human		name
156140302	CV2247035	single nucleotide variant	NM_031889.3(ENAM):c.3054G>C (p.Gln1018His)	Inborn genetic diseases [RCV002763488]	uncertain significance	4	70644480	70644480	Human	1	name
156302171	CV2258616	single nucleotide variant	NM_031889.3(ENAM):c.3068C>T (p.Thr1023Ile)	Inborn genetic diseases [RCV002808204]	uncertain significance	4	70644494	70644494	Human	1	name
156361093	CV2326363	single nucleotide variant	NM_031889.3(ENAM):c.3022A>G (p.Asn1008Asp)	Inborn genetic diseases [RCV002941353]	uncertain significance	4	70644448	70644448	Human	1	name
156209420	CV2370107	single nucleotide variant	NM_031889.3(ENAM):c.3101A>T (p.Gln1034Leu)	Inborn genetic diseases [RCV003006693]	uncertain significance	4	70644527	70644527	Human	1	name
329400692	CV2438665	single nucleotide variant	NM_031889.3(ENAM):c.3124A>C (p.Ser1042Arg)	Inborn genetic diseases [RCV003197692]	uncertain significance	4	70644550	70644550	Human	1	name
401758310	CV2678342	single nucleotide variant	NM_031889.3(ENAM):c.3316A>C (p.Lys1106Gln)	Inborn genetic diseases [RCV003279669]	likely benign	4	70644742	70644742	Human	1	name
401784447	CV2730372	single nucleotide variant	NM_031889.3(ENAM):c.3122A>G (p.Glu1041Gly)	Inborn genetic diseases [RCV003310600]	uncertain significance	4	70644548	70644548	Human	1	name
11653713	CV299307	single nucleotide variant	NM_031889.3(ENAM):c.2998C>G (p.Gln1000Glu)	Amelogenesis imperfecta [RCV000312567]	uncertain significance	4	70644424	70644424	Human	2	name , alternate_id
11589853	CV299310	single nucleotide variant	NM_031889.3(ENAM):c.3310C>A (p.Gln1104Lys)	Amelogenesis imperfecta [RCV000313795]	uncertain significance	4	70644736	70644736	Human	2	name , alternate_id
11593438	CV299327	single nucleotide variant	NM_031889.3(ENAM):c.3007G>A (p.Glu1003Lys)	Amelogenesis imperfecta [RCV000348759]	uncertain significance	4	70644433	70644433	Human	2	name , alternate_id
11598535	CV299330	single nucleotide variant	NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser)	Amelogenesis imperfecta [RCV000406736]\|not provided [RCV004695812]	uncertain significance	4	70644703	70644703	Human	2	name , alternate_id
11594859	CV299331	single nucleotide variant	NM_031889.3(ENAM):c.3400G>T (p.Val1134Leu)	Amelogenesis imperfecta [RCV000363781]	uncertain significance	4	70644826	70644826	Human	2	name , alternate_id
405756603	CV3245085	single nucleotide variant	NM_031889.3(ENAM):c.3071C>T (p.Pro1024Leu)	Inborn genetic diseases [RCV004382717]	uncertain significance	4	70644497	70644497	Human	1	name
405756596	CV3245086	single nucleotide variant	NM_031889.3(ENAM):c.3268A>G (p.Thr1090Ala)	Inborn genetic diseases [RCV004382718]	uncertain significance	4	70644694	70644694	Human	1	name
597667897	CV3667917	single nucleotide variant	NM_031889.3(ENAM):c.3058G>A (p.Val1020Ile)	Inborn genetic diseases [RCV004979780]	uncertain significance	4	70644484	70644484	Human	1	name
597667913	CV3667922	single nucleotide variant	NM_031889.3(ENAM):c.3263C>G (p.Thr1088Arg)	Inborn genetic diseases [RCV004979784]	uncertain significance	4	70644689	70644689	Human	1	name
598125600	CV3885833	single nucleotide variant	NM_031889.3(ENAM):c.3421C>T (p.Gln1141Ter)	not provided [RCV005241636]	uncertain significance	4	70644847	70644847	Human		name
598269042	CV3954158	single nucleotide variant	NM_031889.3(ENAM):c.3282C>G (p.Asn1094Lys)	Inborn genetic diseases [RCV005327233]	uncertain significance	4	70644708	70644708	Human	1	name
598176723	CV4008177	single nucleotide variant	NM_031889.3(ENAM):c.3394G>A (p.Asp1132Asn)	Amelogenesis imperfecta type 1C [RCV005393693]	uncertain significance	4	70644820	70644820	Human	1	name , alternate_id
15202873	CV698620	single nucleotide variant	NM_031889.3(ENAM):c.3320G>A (p.Ser1107Asn)	Amelogenesis imperfecta [RCV001153361]\|not provided [RCV000958082]	benign\|uncertain significance	4	70644746	70644746	Human	2	name , alternate_id
28889433	CV892132	single nucleotide variant	NM_031889.3(ENAM):c.3148T>C (p.Ser1050Pro)	Amelogenesis imperfecta [RCV001152096]	uncertain significance	4	70644574	70644574	Human	2	name , alternate_id
243055368	CV2407390	deletion	NM_031889.3(ENAM):c.372_382del (p.Lys124fs)	not provided [RCV003144940]	likely pathogenic	4	70634468	70634478	Human		name
404984623	CV2851628	deletion	NM_031889.3(ENAM):c.935_944del (p.Ser312fs)	not provided [RCV003489360]	likely pathogenic	4	70642359	70642368	Human		name
8557952	CV19277	insertion	NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV000144087]\|Amelogenesis imperfecta type 1C [RCV000004460]\|Amelogenesis imperfecta type 1C [RCV005357073]\|ENAM-related disorder [RCV003407274]\|not provided [RCV001068458]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	4	70642685	70642686	Human	2	name , trait , alternate_id
21404689	CV672319	single nucleotide variant	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	Pyknodysostosis [RCV003467528]\|Skeletal dysplasia [RCV001002750]\|Skeletal dysplasia [RCV001007653]\|not provided [RCV002536163]	pathogenic\|uncertain significance	1	150796884	150796884	Human	20	alternate_id
126745883	CV1018355	deletion	NM_017565.4(FAM20A):c.915_918del (p.Phe305fs)	Amelogenesis imperfecta type 1G [RCV001535979]\|not provided [RCV002546414]	pathogenic	17	68542704	68542707	Human	1	alternate_id
126773725	CV1033611	single nucleotide variant	NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro)	Amelogenesis imperfecta type 1G [RCV002486410]\|not provided [RCV001346403]	uncertain significance	17	68542000	68542000	Human	1	alternate_id
127332249	CV1126666	single nucleotide variant	NM_017565.4(FAM20A):c.43C>T (p.Leu15=)	Amelogenesis imperfecta type 1G [RCV002506545]\|FAM20A-related disorder [RCV003956039]\|not provided [RCV001472111]	likely benign	17	68600624	68600624	Human	1	alternate_id
127328151	CV1147580	single nucleotide variant	NM_017565.4(FAM20A):c.1293C>T (p.Asn431=)	Amelogenesis imperfecta type 1G [RCV005023173]\|not provided [RCV001486641]	likely benign\|uncertain significance	17	68539893	68539893	Human	1	alternate_id
150512944	CV1228847	single nucleotide variant	NM_017565.4(FAM20A):c.640+11T>C	Amelogenesis imperfecta type 1G [RCV002488442]\|not provided [RCV001637689]	benign\|likely benign	17	68554766	68554766	Human	1	alternate_id
150459772	CV1230376	deletion	NM_017565.4(FAM20A):c.111_145del (p.Glu39fs)	Amelogenesis imperfecta type 1G [RCV001640790]	pathogenic	17	68600522	68600556	Human	1	alternate_id
150544162	CV1313160	deletion	NM_017565.4(FAM20A):c.349_367del (p.Leu117fs)	Amelogenesis imperfecta type 1G [RCV001783238]	pathogenic	17	68600300	68600318	Human	1	alternate_id
150544163	CV1313161	duplication	NM_017565.4(FAM20A):c.455dup (p.Leu153fs)	Amelogenesis imperfecta type 1G [RCV001783239]	pathogenic	17	68555692	68555693	Human		alternate_id
150540519	CV1314644	single nucleotide variant	NM_017565.4(FAM20A):c.1219+2T>C	Amelogenesis imperfecta type 1G [RCV001781077]	likely pathogenic	17	68540847	68540847	Human		alternate_id
150540520	CV1314645	single nucleotide variant	NM_017565.4(FAM20A):c.1171C>T (p.Gln391Ter)	Amelogenesis imperfecta type 1G [RCV001781078]	likely pathogenic	17	68540897	68540897	Human		alternate_id
151859641	CV1337355	single nucleotide variant	NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln)	Amelogenesis imperfecta type 1G [RCV002491923]\|Inborn genetic diseases [RCV002561316]\|not provided [RCV001923836]	uncertain significance	17	68555681	68555681	Human	2	alternate_id
151862984	CV1338835	single nucleotide variant	NM_017565.4(FAM20A):c.50C>T (p.Ala17Val)	Amelogenesis imperfecta type 1G [RCV005025500]\|not provided [RCV001997376]	uncertain significance	17	68600617	68600617	Human	1	alternate_id
151824257	CV1391530	single nucleotide variant	NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn)	Amelogenesis imperfecta type 1G [RCV002492197]\|not provided [RCV001970798]	uncertain significance	17	68540899	68540899	Human	1	alternate_id
151785119	CV1396788	single nucleotide variant	NM_017565.4(FAM20A):c.929C>T (p.Ala310Val)	Amelogenesis imperfecta type 1G [RCV005023378]\|not provided [RCV001891089]	uncertain significance	17	68542165	68542165	Human	1	alternate_id
151722182	CV1421938	single nucleotide variant	NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln)	Amelogenesis imperfecta type 1G [RCV002484440]\|not provided [RCV001909901]	uncertain significance	17	68555621	68555621	Human	1	alternate_id
151769109	CV1427246	single nucleotide variant	NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter)	Amelogenesis imperfecta type 1G [RCV005014741]\|not provided [RCV001864435]	pathogenic\|likely pathogenic	17	68543720	68543720	Human	1	alternate_id
8696207	CV143267	single nucleotide variant	NM_017565.4(FAM20A):c.720-2A>G	Amelogenesis imperfecta type 1G [RCV000128612]	pathogenic	17	68543723	68543723	Human	1	alternate_id
8696208	CV143268	single nucleotide variant	NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter)	Amelogenesis imperfecta type 1G [RCV000128613]	pathogenic	17	68537671	68537671	Human	1	alternate_id
8696209	CV143269	deletion	NM_017565.4(FAM20A):c.612del (p.Leu205fs)	Amelogenesis imperfecta type 1G [RCV000128614]	pathogenic	17	68554805	68554805	Human	1	alternate_id
151789295	CV1463219	single nucleotide variant	NM_017565.4(FAM20A):c.757T>C (p.Tyr253His)	Amelogenesis imperfecta type 1G [RCV002490072]\|not provided [RCV001900308]	uncertain significance	17	68543684	68543684	Human	1	alternate_id
152056196	CV1538856	single nucleotide variant	NM_017565.4(FAM20A):c.984T>C (p.Ala328=)	Amelogenesis imperfecta type 1G [RCV002494066]\|FAM20A-related disorder [RCV003941316]\|not provided [RCV002175109]	likely benign	17	68542110	68542110	Human	1	alternate_id
152101264	CV1546941	single nucleotide variant	NM_017565.4(FAM20A):c.404+18G>A	Amelogenesis imperfecta type 1G [RCV002500333]\|not provided [RCV002151841]	likely benign	17	68600245	68600245	Human	1	alternate_id
152035186	CV1582958	single nucleotide variant	NM_017565.4(FAM20A):c.342C>T (p.Asp114=)	Amelogenesis imperfecta type 1G [RCV002486802]\|not provided [RCV002106869]	likely benign	17	68600325	68600325	Human	1	alternate_id
152047995	CV1592161	single nucleotide variant	NM_017565.4(FAM20A):c.928+16G>A	Amelogenesis imperfecta type 1G [RCV002499917]\|not provided [RCV002102653]	benign\|likely benign	17	68542678	68542678	Human	1	alternate_id
152049848	CV1664927	single nucleotide variant	NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile)	Amelogenesis imperfecta type 1G [RCV002500003]\|not provided [RCV002117742]	likely benign	17	68537631	68537631	Human	1	alternate_id
152999845	CV1683901	indel	NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC	Amelogenesis imperfecta type 1G [RCV002254495]	pathogenic	17	68541978	68541982	Human		alternate_id
152999848	CV1683902	single nucleotide variant	NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)	Amelogenesis imperfecta type 1G [RCV002254496]	likely pathogenic	17	68539955	68539955	Human	1	alternate_id
153001982	CV1684280	single nucleotide variant	NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)	Amelogenesis imperfecta type 1G [RCV002255775]	likely pathogenic	17	68543683	68543683	Human	1	alternate_id
153001983	CV1684281	deletion	NC_000017.11:g.68534268_68541798del	Amelogenesis imperfecta type 1G [RCV002255776]	pathogenic	17	68534265	68541795	Human	1	alternate_id
153000010	CV1685048	single nucleotide variant	NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser)	Amelogenesis imperfecta type 1G [RCV005017169]\|Hereditary cancer-predisposing syndrome [RCV002257280]\|Inborn genetic diseases [RCV003269148]	benign\|uncertain significance	17	68539892	68539892	Human	3	alternate_id
153304734	CV1689326	deletion	NM_017565.4(FAM20A):c.1447del (p.Glu483fs)	Amelogenesis imperfecta type 1G [RCV005017177]\|not provided [RCV002267276]	pathogenic	17	68537656	68537656	Human	1	alternate_id
156375282	CV1917494	single nucleotide variant	NM_017565.4(FAM20A):c.526C>T (p.Arg176Trp)	Amelogenesis imperfecta type 1G [RCV005021605]\|Inborn genetic diseases [RCV002603525]\|not provided [RCV002603526]	uncertain significance	17	68555622	68555622	Human	2	alternate_id
156435700	CV1938053	single nucleotide variant	NM_017565.4(FAM20A):c.1082G>A (p.Arg361His)	Amelogenesis imperfecta type 1G [RCV005029903]\|Inborn genetic diseases [RCV004244632]\|not provided [RCV003112483]	uncertain significance	17	68542012	68542012	Human	2	alternate_id
156232770	CV1965778	duplication	NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu)	Amelogenesis imperfecta type 1G [RCV005019254]\|not provided [RCV002596869]	uncertain significance	17	68600314	68600315	Human	1	alternate_id
156278334	CV1971239	microsatellite	NM_017565.4(FAM20A):c.1108_1109+1del	Amelogenesis imperfecta type 1G [RCV005370251]\|not provided [RCV002598313]	likely pathogenic\|uncertain significance	17	68541984	68541986	Human		alternate_id
156260937	CV2099104	single nucleotide variant	NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser)	Amelogenesis imperfecta type 1G [RCV005028007]\|not provided [RCV002895577]	uncertain significance	17	68543699	68543699	Human	1	alternate_id
156171385	CV2133578	single nucleotide variant	NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro)	Amelogenesis imperfecta type 1G [RCV005019555]\|Inborn genetic diseases [RCV004068496]\|not provided [RCV003005398]	uncertain significance	17	68539900	68539900	Human	2	alternate_id
156224864	CV2219467	single nucleotide variant	NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser)	Amelogenesis imperfecta type 1G [RCV005021681]\|Inborn genetic diseases [RCV002712370]	uncertain significance	17	68554792	68554792	Human	2	alternate_id
243057089	CV2409992	single nucleotide variant	NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)	Amelogenesis imperfecta type 1G [RCV003147166]\|not provided [RCV003321981]	uncertain significance	17	68540858	68540858	Human	1	alternate_id
243056079	CV2419186	deletion	NM_017565.4(FAM20A):c.610del (p.Ala204fs)	Amelogenesis imperfecta type 1G [RCV003154869]	likely pathogenic	17	68554807	68554807	Human	1	alternate_id
243054771	CV2419187	single nucleotide variant	NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)	Amelogenesis imperfecta type 1G [RCV003154870]	uncertain significance	17	68600614	68600614	Human	1	alternate_id
243057540	CV2419188	deletion	NM_017565.4(FAM20A):c.976_978del (p.Glu326del)	Amelogenesis imperfecta type 1G [RCV003154871]	uncertain significance	17	68542116	68542118	Human	1	alternate_id
243057542	CV2419189	single nucleotide variant	NM_017565.4(FAM20A):c.1361+1G>A	Amelogenesis imperfecta type 1G [RCV003154872]	likely pathogenic	17	68539336	68539336	Human	1	alternate_id
243057544	CV2419320	single nucleotide variant	NM_017565.4(FAM20A):c.928+2T>C	Amelogenesis imperfecta type 1G [RCV003155005]	likely pathogenic	17	68542692	68542692	Human	1	alternate_id
243057560	CV2419336	single nucleotide variant	NM_017565.4(FAM20A):c.1301+5G>A	Amelogenesis imperfecta type 1G [RCV003155533]	uncertain significance	17	68539880	68539880	Human	1	alternate_id
11544170	CV256358	single nucleotide variant	NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser)	Amelogenesis imperfecta type 1G [RCV001701971]\|not provided [RCV001512678]\|not specified [RCV000243426]	benign	17	68537514	68537514	Human	1	alternate_id
11546386	CV256359	single nucleotide variant	NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys)	Amelogenesis imperfecta type 1G [RCV001702398]\|not provided [RCV001512679]\|not specified [RCV000246398]	benign	17	68542098	68542098	Human	1	alternate_id
401948308	CV2832476	duplication	NM_017565.4(FAM20A):c.626dup (p.Cys209fs)	Amelogenesis imperfecta type 1G [RCV003447882]	likely pathogenic	17	68554790	68554791	Human	1	alternate_id
402509620	CV2884998	microsatellite	NM_017565.4(FAM20A):c.907_908del (p.Ser303fs)	Amelogenesis imperfecta type 1G [RCV005014750]\|not provided [RCV003559245]	pathogenic	17	68542714	68542715	Human		alternate_id
405225462	CV3058383	single nucleotide variant	NM_017565.4(FAM20A):c.339G>C (p.Glu113Asp)	Amelogenesis imperfecta type 1G [RCV005030242]\|Inborn genetic diseases [RCV005335885]\|not provided [RCV003733909]	uncertain significance	17	68600328	68600328	Human	2	alternate_id
405121315	CV3131574	single nucleotide variant	NM_017565.4(FAM20A):c.345G>T (p.Ser115=)	Amelogenesis imperfecta type 1G [RCV005030310]\|not provided [RCV003837438]	likely benign\|uncertain significance	17	68600322	68600322	Human	1	alternate_id
405745291	CV3256281	single nucleotide variant	NM_017565.4(FAM20A):c.133C>T (p.Pro45Ser)	Amelogenesis imperfecta type 1G [RCV005030379]\|Inborn genetic diseases [RCV004381179]	uncertain significance	17	68600534	68600534	Human	2	alternate_id
405874698	CV3401584	duplication	NM_017565.4(FAM20A):c.188dup (p.Asp63fs)	Amelogenesis imperfecta type 1G [RCV004579652]	pathogenic	17	68600478	68600479	Human	1	alternate_id
597699981	CV3665447	single nucleotide variant	NM_017565.4(FAM20A):c.1288G>C (p.Asp430His)	Amelogenesis imperfecta type 1G [RCV005023763]\|Inborn genetic diseases [RCV004977442]	uncertain significance	17	68539898	68539898	Human	2	alternate_id
597628598	CV3665449	single nucleotide variant	NM_017565.4(FAM20A):c.686C>T (p.Ser229Leu)	Amelogenesis imperfecta type 1G [RCV005017334]\|Inborn genetic diseases [RCV004977443]	uncertain significance	17	68551906	68551906	Human	2	alternate_id
597628602	CV3665451	single nucleotide variant	NM_017565.4(FAM20A):c.316G>A (p.Glu106Lys)	Amelogenesis imperfecta type 1G [RCV005017335]\|Inborn genetic diseases [RCV004977445]	uncertain significance	17	68600351	68600351	Human	2	alternate_id
597703060	CV3715956	single nucleotide variant	NM_017565.4(FAM20A):c.1609G>A (p.Ala537Thr)	Amelogenesis imperfecta type 1G [RCV005022558]	uncertain significance	17	68537494	68537494	Human	1	alternate_id
597704259	CV3715958	single nucleotide variant	NM_017565.4(FAM20A):c.1570G>A (p.Asp524Asn)	Amelogenesis imperfecta type 1G [RCV005026000]	uncertain significance	17	68537533	68537533	Human	1	alternate_id
597704270	CV3715959	single nucleotide variant	NM_017565.4(FAM20A):c.1567G>C (p.Val523Leu)	Amelogenesis imperfecta type 1G [RCV005026001]	uncertain significance	17	68537536	68537536	Human	1	alternate_id
597704283	CV3715960	single nucleotide variant	NM_017565.4(FAM20A):c.1538T>C (p.Ile513Thr)	Amelogenesis imperfecta type 1G [RCV005026002]	uncertain significance	17	68537565	68537565	Human	1	alternate_id
597703070	CV3715961	single nucleotide variant	NM_017565.4(FAM20A):c.1486C>T (p.Leu496Phe)	Amelogenesis imperfecta type 1G [RCV005022560]\|Inborn genetic diseases [RCV005325949]	uncertain significance	17	68537617	68537617	Human	2	alternate_id
597703081	CV3715962	single nucleotide variant	NM_017565.4(FAM20A):c.1481A>G (p.His494Arg)	Amelogenesis imperfecta type 1G [RCV005022561]	uncertain significance	17	68537622	68537622	Human	1	alternate_id
597703091	CV3715963	single nucleotide variant	NM_017565.4(FAM20A):c.1478C>T (p.Pro493Leu)	Amelogenesis imperfecta type 1G [RCV005022562]	uncertain significance	17	68537625	68537625	Human	1	alternate_id
597703103	CV3715964	single nucleotide variant	NM_017565.4(FAM20A):c.1442T>C (p.Leu481Pro)	Amelogenesis imperfecta type 1G [RCV005022563]	uncertain significance	17	68537661	68537661	Human	1	alternate_id
597703114	CV3715965	single nucleotide variant	NM_017565.4(FAM20A):c.1361+16G>A	Amelogenesis imperfecta type 1G [RCV005022564]	uncertain significance	17	68539321	68539321	Human	1	alternate_id
597703126	CV3715966	single nucleotide variant	NM_017565.4(FAM20A):c.1340C>T (p.Ser447Leu)	Amelogenesis imperfecta type 1G [RCV005022565]	uncertain significance	17	68539358	68539358	Human	1	alternate_id
597704295	CV3715967	single nucleotide variant	NM_017565.4(FAM20A):c.1301+3G>A	Amelogenesis imperfecta type 1G [RCV005026003]	uncertain significance	17	68539882	68539882	Human	1	alternate_id
597704306	CV3715968	single nucleotide variant	NM_017565.4(FAM20A):c.1301G>C (p.Gly434Ala)	Amelogenesis imperfecta type 1G [RCV005026004]	uncertain significance	17	68539885	68539885	Human	1	alternate_id
597704320	CV3715969	single nucleotide variant	NM_017565.4(FAM20A):c.1219+14C>T	Amelogenesis imperfecta type 1G [RCV005026005]	uncertain significance	17	68540835	68540835	Human	1	alternate_id
597703136	CV3715970	single nucleotide variant	NM_017565.4(FAM20A):c.1207G>A (p.Asp403Asn)	Amelogenesis imperfecta type 1G [RCV005022566]	likely pathogenic	17	68540861	68540861	Human	1	alternate_id
597703148	CV3715971	single nucleotide variant	NM_017565.4(FAM20A):c.1183A>G (p.Asn395Asp)	Amelogenesis imperfecta type 1G [RCV005022567]	uncertain significance	17	68540885	68540885	Human	1	alternate_id
597703160	CV3715973	single nucleotide variant	NM_017565.4(FAM20A):c.1168A>G (p.Ser390Gly)	Amelogenesis imperfecta type 1G [RCV005022568]	uncertain significance	17	68540900	68540900	Human	1	alternate_id
597704333	CV3715974	single nucleotide variant	NM_017565.4(FAM20A):c.1112G>A (p.Trp371Ter)	Amelogenesis imperfecta type 1G [RCV005026006]	likely pathogenic	17	68540956	68540956	Human	1	alternate_id
597703707	CV3715975	microsatellite	NM_017565.4(FAM20A):c.1110-12_1110-10del	Amelogenesis imperfecta type 1G [RCV005022569]	uncertain significance	17	68540968	68540970	Human		alternate_id
597703719	CV3715976	microsatellite	NM_017565.4(FAM20A):c.1092_1093del (p.Leu365fs)	Amelogenesis imperfecta type 1G [RCV005022570]	likely pathogenic	17	68542001	68542002	Human		alternate_id
597703193	CV3715977	single nucleotide variant	NM_017565.4(FAM20A):c.1091C>T (p.Thr364Ile)	Amelogenesis imperfecta type 1G [RCV005022571]	uncertain significance	17	68542003	68542003	Human	1	alternate_id
597704344	CV3715978	single nucleotide variant	NM_017565.4(FAM20A):c.1033C>T (p.Pro345Ser)	Amelogenesis imperfecta type 1G [RCV005026007]	uncertain significance	17	68542061	68542061	Human	1	alternate_id
597703203	CV3715979	single nucleotide variant	NM_017565.4(FAM20A):c.1022C>T (p.Ser341Phe)	Amelogenesis imperfecta type 1G [RCV005022572]	uncertain significance	17	68542072	68542072	Human	1	alternate_id
597703213	CV3715980	single nucleotide variant	NM_017565.4(FAM20A):c.1012G>C (p.Gly338Arg)	Amelogenesis imperfecta type 1G [RCV005022573]	uncertain significance	17	68542082	68542082	Human	1	alternate_id
597704353	CV3715981	indel	NM_017565.4(FAM20A):c.996_997delinsAG (p.Asn332_Pro333delinsLysAla)	Amelogenesis imperfecta type 1G [RCV005026008]	uncertain significance	17	68542097	68542098	Human		alternate_id
597704365	CV3715983	single nucleotide variant	NM_017565.4(FAM20A):c.964A>G (p.Met322Val)	Amelogenesis imperfecta type 1G [RCV005026009]	uncertain significance	17	68542130	68542130	Human	1	alternate_id
597704376	CV3715984	single nucleotide variant	NM_017565.4(FAM20A):c.937G>A (p.Val313Met)	Amelogenesis imperfecta type 1G [RCV005026010]	uncertain significance	17	68542157	68542157	Human	1	alternate_id
597703225	CV3715985	single nucleotide variant	NM_017565.4(FAM20A):c.889A>G (p.Lys297Glu)	Amelogenesis imperfecta type 1G [RCV005022575]\|Inborn genetic diseases [RCV005336038]	uncertain significance	17	68542733	68542733	Human	2	alternate_id
597703236	CV3715986	single nucleotide variant	NM_017565.4(FAM20A):c.853A>G (p.Ile285Val)	Amelogenesis imperfecta type 1G [RCV005022576]	uncertain significance	17	68542769	68542769	Human	1	alternate_id
597703246	CV3715987	single nucleotide variant	NM_017565.4(FAM20A):c.813-1G>C	Amelogenesis imperfecta type 1G [RCV005022577]	likely pathogenic	17	68542810	68542810	Human	1	alternate_id
597703256	CV3715989	single nucleotide variant	NM_017565.4(FAM20A):c.794C>T (p.Ala265Val)	Amelogenesis imperfecta type 1G [RCV005022578]	uncertain significance	17	68543647	68543647	Human	1	alternate_id
597704389	CV3715990	single nucleotide variant	NM_017565.4(FAM20A):c.793G>A (p.Ala265Thr)	Amelogenesis imperfecta type 1G [RCV005026011]	uncertain significance	17	68543648	68543648	Human	1	alternate_id
597704400	CV3715991	single nucleotide variant	NM_017565.4(FAM20A):c.770T>G (p.Phe257Cys)	Amelogenesis imperfecta type 1G [RCV005026012]	uncertain significance	17	68543671	68543671	Human	1	alternate_id
597703265	CV3715992	single nucleotide variant	NM_017565.4(FAM20A):c.727C>T (p.Arg243Ter)	Amelogenesis imperfecta type 1G [RCV005022580]	pathogenic	17	68543714	68543714	Human	1	alternate_id
597628096	CV3715994	single nucleotide variant	NM_017565.4(FAM20A):c.694G>A (p.Gly232Arg)	Amelogenesis imperfecta type 1G [RCV005022581]\|Inborn genetic diseases [RCV005325950]	uncertain significance	17	68551898	68551898	Human	2	alternate_id
597628100	CV3715995	single nucleotide variant	NM_017565.4(FAM20A):c.665T>C (p.Leu222Pro)	Amelogenesis imperfecta type 1G [RCV005022582]	uncertain significance	17	68551927	68551927	Human	1	alternate_id
597644411	CV3715997	single nucleotide variant	NM_017565.4(FAM20A):c.654T>G (p.Ser218Arg)	Amelogenesis imperfecta type 1G [RCV005026014]	uncertain significance	17	68551938	68551938	Human	1	alternate_id
597644419	CV3715998	indel	NM_017565.4(FAM20A):c.590-3_590-2delinsAG	Amelogenesis imperfecta type 1G [RCV005026015]	likely pathogenic	17	68554829	68554830	Human		alternate_id
597628107	CV3715999	single nucleotide variant	NM_017565.4(FAM20A):c.590-5T>A	Amelogenesis imperfecta type 1G [RCV005022584]\|not provided [RCV005112690]	pathogenic\|likely pathogenic	17	68554832	68554832	Human	1	alternate_id
597628111	CV3716000	single nucleotide variant	NM_017565.4(FAM20A):c.573T>A (p.Phe191Leu)	Amelogenesis imperfecta type 1G [RCV005022585]	uncertain significance	17	68555575	68555575	Human	1	alternate_id
597644426	CV3716001	single nucleotide variant	NM_017565.4(FAM20A):c.496C>A (p.Leu166Met)	Amelogenesis imperfecta type 1G [RCV005026016]	uncertain significance	17	68555652	68555652	Human	1	alternate_id
597628114	CV3716002	single nucleotide variant	NM_017565.4(FAM20A):c.466C>T (p.Arg156Ter)	Amelogenesis imperfecta type 1G [RCV005022586]	pathogenic	17	68555682	68555682	Human	1	alternate_id
597644433	CV3716003	single nucleotide variant	NM_017565.4(FAM20A):c.455C>G (p.Pro152Arg)	Amelogenesis imperfecta type 1G [RCV005026017]	uncertain significance	17	68555693	68555693	Human	1	alternate_id
597628117	CV3716004	single nucleotide variant	NM_017565.4(FAM20A):c.455C>A (p.Pro152Gln)	Amelogenesis imperfecta type 1G [RCV005022587]	uncertain significance	17	68555693	68555693	Human	1	alternate_id
597628121	CV3716005	single nucleotide variant	NM_017565.4(FAM20A):c.451C>T (p.Pro151Ser)	Amelogenesis imperfecta type 1G [RCV005022588]	uncertain significance	17	68555697	68555697	Human	1	alternate_id
597628127	CV3716006	single nucleotide variant	NM_017565.4(FAM20A):c.411C>A (p.His137Gln)	Amelogenesis imperfecta type 1G [RCV005022589]	uncertain significance	17	68555737	68555737	Human	1	alternate_id
597628130	CV3716007	single nucleotide variant	NM_017565.4(FAM20A):c.395G>C (p.Arg132Pro)	Amelogenesis imperfecta type 1G [RCV005022590]	uncertain significance	17	68600272	68600272	Human	1	alternate_id
597644440	CV3716008	single nucleotide variant	NM_017565.4(FAM20A):c.392C>T (p.Ala131Val)	Amelogenesis imperfecta type 1G [RCV005026018]	uncertain significance	17	68600275	68600275	Human	1	alternate_id
597644448	CV3716009	indel	NM_017565.4(FAM20A):c.384_385delinsCCCGCTGGAAC (p.Arg128_Lys129delinsSerProLeuGluGln)	Amelogenesis imperfecta type 1G [RCV005026019]	uncertain significance	17	68600282	68600283	Human		alternate_id
597644454	CV3716010	single nucleotide variant	NM_017565.4(FAM20A):c.326T>C (p.Leu109Pro)	Amelogenesis imperfecta type 1G [RCV005026020]	uncertain significance	17	68600341	68600341	Human	1	alternate_id
597644462	CV3716012	duplication	NM_017565.4(FAM20A):c.278_281dup (p.Leu95fs)	Amelogenesis imperfecta type 1G [RCV005026021]	likely pathogenic	17	68600385	68600386	Human	1	alternate_id
597628137	CV3716013	single nucleotide variant	NM_017565.4(FAM20A):c.255C>G (p.His85Gln)	Amelogenesis imperfecta type 1G [RCV005022591]	uncertain significance	17	68600412	68600412	Human	1	alternate_id
597644468	CV3716014	single nucleotide variant	NM_017565.4(FAM20A):c.242C>G (p.Ala81Gly)	Amelogenesis imperfecta type 1G [RCV005026022]	uncertain significance	17	68600425	68600425	Human	1	alternate_id
597628143	CV3716015	single nucleotide variant	NM_017565.4(FAM20A):c.225G>C (p.Glu75Asp)	Amelogenesis imperfecta type 1G [RCV005022592]	uncertain significance	17	68600442	68600442	Human	1	alternate_id
597644473	CV3716016	single nucleotide variant	NM_017565.4(FAM20A):c.217C>A (p.Arg73=)	Amelogenesis imperfecta type 1G [RCV005026023]	uncertain significance	17	68600450	68600450	Human	1	alternate_id
597628149	CV3716017	single nucleotide variant	NM_017565.4(FAM20A):c.197C>G (p.Thr66Arg)	Amelogenesis imperfecta type 1G [RCV005022593]	uncertain significance	17	68600470	68600470	Human	1	alternate_id
597644481	CV3716018	single nucleotide variant	NM_017565.4(FAM20A):c.195C>T (p.Gly65=)	Amelogenesis imperfecta type 1G [RCV005026024]	likely benign	17	68600472	68600472	Human	1	alternate_id
597628155	CV3716019	single nucleotide variant	NM_017565.4(FAM20A):c.154T>G (p.Ser52Ala)	Amelogenesis imperfecta type 1G [RCV005022594]	uncertain significance	17	68600513	68600513	Human	1	alternate_id
597628159	CV3716020	single nucleotide variant	NM_017565.4(FAM20A):c.145C>T (p.Arg49Cys)	Amelogenesis imperfecta type 1G [RCV005022595]	uncertain significance	17	68600522	68600522	Human	1	alternate_id
597628165	CV3716021	single nucleotide variant	NM_017565.4(FAM20A):c.109C>G (p.Pro37Ala)	Amelogenesis imperfecta type 1G [RCV005022596]	uncertain significance	17	68600558	68600558	Human	1	alternate_id
597644488	CV3716022	single nucleotide variant	NM_017565.4(FAM20A):c.104T>G (p.Leu35Arg)	Amelogenesis imperfecta type 1G [RCV005026025]	uncertain significance	17	68600563	68600563	Human	1	alternate_id
597645632	CV3716023	single nucleotide variant	NM_017565.4(FAM20A):c.103C>A (p.Leu35Met)	Amelogenesis imperfecta type 1G [RCV005026026]	uncertain significance	17	68600564	68600564	Human	1	alternate_id
597644498	CV3716024	single nucleotide variant	NM_017565.4(FAM20A):c.95A>G (p.Gln32Arg)	Amelogenesis imperfecta type 1G [RCV005026027]	uncertain significance	17	68600572	68600572	Human	1	alternate_id
597628176	CV3716025	microsatellite	NM_017565.4(FAM20A):c.34CTG[5] (p.Leu15_Gly16insLeu)	Amelogenesis imperfecta type 1G [RCV005022598]	uncertain significance	17	68600621	68600622	Human		alternate_id
597628181	CV3716026	single nucleotide variant	NM_017565.4(FAM20A):c.19G>C (p.Asp7His)	Amelogenesis imperfecta type 1G [RCV005022599]	uncertain significance	17	68600648	68600648	Human	1	alternate_id
597628185	CV3716027	single nucleotide variant	NM_017565.4(FAM20A):c.19G>A (p.Asp7Asn)	Amelogenesis imperfecta type 1G [RCV005022600]	uncertain significance	17	68600648	68600648	Human	1	alternate_id
597644505	CV3716028	single nucleotide variant	NM_017565.4(FAM20A):c.14G>A (p.Arg5His)	Amelogenesis imperfecta type 1G [RCV005026028]	uncertain significance	17	68600653	68600653	Human	1	alternate_id
598122003	CV3883222	single nucleotide variant	NM_017565.4(FAM20A):c.719+806C>T	Amelogenesis imperfecta type 1G [RCV005234755]	likely benign	17	68551067	68551067	Human	1	alternate_id
8602353	CV39836	single nucleotide variant	NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter)	Amelogenesis imperfecta type 1G [RCV000023864]\|not provided [RCV002513210]	pathogenic	17	68555742	68555742	Human	1	alternate_id
12906785	CV415584	single nucleotide variant	NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr)	Amelogenesis imperfecta type 1G [RCV002489195]\|not provided [RCV000489649]	uncertain significance	17	68539892	68539892	Human	1	alternate_id
8569087	CV44147	microsatellite	NM_017565.4(FAM20A):c.34_35del (p.Leu12fs)	Amelogenesis imperfecta type 1G [RCV000029150]	pathogenic	17	68600632	68600633	Human		alternate_id
8569088	CV44148	single nucleotide variant	NM_017565.4(FAM20A):c.813-2A>G	Amelogenesis imperfecta type 1G [RCV000029151]	pathogenic	17	68542811	68542811	Human	1	alternate_id
8569089	CV44149	deletion	NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs)	Amelogenesis imperfecta type 1G [RCV000029152]	pathogenic	17	68540889	68540893	Human	1	alternate_id
8569090	CV44150	single nucleotide variant	NM_017565.4(FAM20A):c.590-2A>G	Amelogenesis imperfecta type 1G [RCV000029153]	pathogenic	17	68554829	68554829	Human	1	alternate_id
8602635	CV44151	single nucleotide variant	NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter)	Amelogenesis imperfecta type 1G [RCV000029154]	pathogenic	17	68542796	68542796	Human	1	alternate_id
13827587	CV578552	deletion	NM_017565.4(FAM20A):c.885del (p.Thr296fs)	Amelogenesis imperfecta type 1G [RCV000714712]	likely pathogenic	17	68542737	68542737	Human	1	alternate_id
15148027	CV715652	single nucleotide variant	NM_017565.4(FAM20A):c.321G>C (p.Pro107=)	Amelogenesis imperfecta type 1G [RCV002488055]\|not provided [RCV000967461]	likely benign	17	68600346	68600346	Human	1	alternate_id
15113584	CV715653	single nucleotide variant	NM_017565.4(FAM20A):c.18G>A (p.Arg6=)	Amelogenesis imperfecta type 1G [RCV002503007]\|not provided [RCV000961518]	benign\|likely benign	17	68600649	68600649	Human	1	alternate_id
15194066	CV727382	single nucleotide variant	NM_017565.4(FAM20A):c.444C>T (p.Ser148=)	Amelogenesis imperfecta type 1G [RCV002479015]\|not provided [RCV000889116]	benign	17	68555704	68555704	Human	1	alternate_id
15177698	CV740980	single nucleotide variant	NM_017565.4(FAM20A):c.792C>T (p.Ile264=)	Amelogenesis imperfecta type 1G [RCV002505324]\|FAM20A-related disorder [RCV003968332]\|not provided [RCV000906712]	likely benign	17	68543649	68543649	Human	1	alternate_id
15169993	CV740982	single nucleotide variant	NM_017565.4(FAM20A):c.513T>C (p.His171=)	Amelogenesis imperfecta type 1G [RCV002495476]\|not provided [RCV000905179]	likely benign	17	68555635	68555635	Human	1	alternate_id
15202649	CV756089	single nucleotide variant	NM_017565.4(FAM20A):c.1314C>T (p.His438=)	Amelogenesis imperfecta type 1G [RCV002502753]\|FAM20A-related disorder [RCV003913041]\|not provided [RCV000913493]	benign\|likely benign	17	68539384	68539384	Human	1	alternate_id
28881936	CV861163	microsatellite	NM_017565.4(FAM20A):c.1219+3_1219+6del	Amelogenesis imperfecta type 1G [RCV001093647]	likely pathogenic	17	68540843	68540846	Human		alternate_id
38486762	CV928516	single nucleotide variant	NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln)	Amelogenesis imperfecta type 1G [RCV002504275]\|Inborn genetic diseases [RCV002563007]\|not provided [RCV001220439]	conflicting interpretations of pathogenicity\|uncertain significance	17	68540893	68540893	Human	2	alternate_id
38481918	CV928518	single nucleotide variant	NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile)	Amelogenesis imperfecta type 1G [RCV002480718]\|Inborn genetic diseases [RCV002562447]\|not provided [RCV001218227]	uncertain significance	17	68555708	68555708	Human	2	alternate_id
38472196	CV950258	single nucleotide variant	NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu)	Amelogenesis imperfecta type 1G [RCV002480757]\|not provided [RCV001231437]	uncertain significance	17	68600662	68600662	Human	1	alternate_id
126739523	CV997899	single nucleotide variant	NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser)	Amelogenesis imperfecta type 1G [RCV002480946]\|Inborn genetic diseases [RCV002541831]\|not provided [RCV001295624]	uncertain significance	17	68600654	68600654	Human	2	alternate_id
150548139	CV1314164	single nucleotide variant	NM_001142.2(AMELX):c.289C>T (p.Gln97Ter)	Amelogenesis imperfecta type 1E [RCV001785917]	likely pathogenic	X	11298692	11298692	Human	1	alternate_id
156345161	CV2346389	single nucleotide variant	NM_001142.2(AMELX):c.103-111A>G	Amelogenesis imperfecta type 1E [RCV005356331]\|Inborn genetic diseases [RCV002965790]	uncertain significance	X	11298125	11298125	Human	2	alternate_id
243054435	CV2418961	single nucleotide variant	NM_001142.2(AMELX):c.47C>A (p.Ala16Asp)	Amelogenesis imperfecta type 1E [RCV003154644]	likely pathogenic	X	11294835	11294835	Human	1	alternate_id
8562197	CV26175	deletion	NM_001287242.1(ARHGAP6):c.49-45951_49-41228del	Amelogenesis imperfecta type 1E [RCV000011886]	pathogenic	X	11295938	11300658	Human	1	alternate_id
8562198	CV26176	deletion	NM_001142.2(AMELX):c.113del (p.Pro38fs)	Amelogenesis imperfecta type 1E [RCV000011887]	pathogenic	X	11298243	11298243	Human	1	alternate_id
8562199	CV26177	deletion	NM_001142.2(AMELX):c.14_22del (p.Ile5_Ala8delinsThr)	Amelogenesis imperfecta type 1E [RCV000011888]	pathogenic	X	11294802	11294810	Human	1	alternate_id
8562200	CV26178	deletion	NM_001142.2(AMELX):c.431del (p.Pro144fs)	Amelogenesis imperfecta type 1E [RCV000011889]	pathogenic	X	11298833	11298833	Human	1	alternate_id
8562201	CV26179	single nucleotide variant	NM_001142.2(AMELX):c.110C>T (p.Thr37Ile)	Amelogenesis imperfecta type 1E [RCV000011890]	pathogenic	X	11298243	11298243	Human	1	alternate_id
8562202	CV26180	single nucleotide variant	NM_001142.2(AMELX):c.529G>T (p.Glu177Ter)	Amelogenesis imperfecta type 1E [RCV000011891]	pathogenic	X	11298932	11298932	Human	1	alternate_id
8562203	CV26181	single nucleotide variant	NM_001142.2(AMELX):c.166C>A (p.Pro56Thr)	AMELX-related disorder [RCV004757103]\|Amelogenesis imperfecta type 1E [RCV000011892]\|not provided [RCV001588809]	pathogenic	X	11298569	11298569	Human	1	alternate_id
8562204	CV26182	deletion	NM_001142.2(AMELX):c.499del (p.Leu167fs)	Amelogenesis imperfecta type 1E [RCV000011893]	pathogenic	X	11298899	11298899	Human	1	alternate_id
8562205	CV26183	deletion	NM_001142.2(AMELX):c.378del (p.Tyr127fs)	Amelogenesis imperfecta type 1E [RCV000011894]	pathogenic	X	11298779	11298779	Human	1	alternate_id
8562206	CV26184	single nucleotide variant	NM_001142.2(AMELX):c.2T>C (p.Met1Thr)	Amelogenesis imperfecta type 1E [RCV000011895]	pathogenic	X	11294790	11294790	Human	1	alternate_id
8562207	CV26185	single nucleotide variant	NM_001142.2(AMELX):c.11G>C (p.Trp4Ser)	Amelogenesis imperfecta type 1E [RCV000011896]	pathogenic	X	11294799	11294799	Human	1	alternate_id
407475823	CV3415645	single nucleotide variant	NM_001142.2(AMELX):c.167C>T (p.Pro56Leu)	Amelogenesis imperfecta type 1E [RCV004598528]	pathogenic	X	11298570	11298570	Human	1	alternate_id
596921915	CV3535544	single nucleotide variant	NM_001142.2(AMELX):c.144+1G>A	Amelogenesis imperfecta type 1E [RCV004785099]	likely pathogenic	X	11298278	11298278	Human	1	alternate_id
597655373	CV3719956	single nucleotide variant	NM_001142.2(AMELX):c.3G>A (p.Met1Ile)	Amelogenesis imperfecta type 1E [RCV005041571]	likely pathogenic	X	11294791	11294791	Human	1	alternate_id
150440062	CV1015150	single nucleotide variant	NM_033068.3(ACP4):c.262C>A (p.Arg88Ser)	Amelogenesis imperfecta [RCV001645017]	uncertain significance	19	50790819	50790819	Human	2	alternate_id
150440066	CV1015151	single nucleotide variant	NM_033068.3(ACP4):c.350A>G (p.Gln117Arg)	Amelogenesis imperfecta [RCV001645018]\|not specified [RCV004035262]	uncertain significance	19	50791702	50791702	Human	2	alternate_id
150440069	CV1015152	single nucleotide variant	NM_033068.3(ACP4):c.419C>T (p.Pro140Leu)	Amelogenesis imperfecta [RCV001645019]	uncertain significance	19	50791771	50791771	Human	2	alternate_id
152983380	CV1316704	single nucleotide variant	NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter)	Amelogenesis imperfecta [RCV002250377]	pathogenic	14	92443430	92443430	Human	2	alternate_id
152983381	CV1316705	indel	NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)	Amelogenesis imperfecta [RCV002250378]	pathogenic	14	91234968	91234973	Human		alternate_id
153000906	CV1318201	single nucleotide variant	NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)	Amelogenesis imperfecta [RCV002254672]	pathogenic	19	50907062	50907062	Human	2	alternate_id
153000907	CV1318202	single nucleotide variant	NM_004917.5(KLK4):c.170C>A (p.Ser57Ter)	Amelogenesis imperfecta [RCV002254673]	pathogenic	19	50909306	50909306	Human	2	alternate_id
155267739	CV1686911	single nucleotide variant	NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr)	Amelogenesis imperfecta [RCV002282705]	likely pathogenic	11	65539372	65539372	Human	2	alternate_id
8595715	CV17315	single nucleotide variant	NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)	Charcot-Marie-Tooth disease [RCV001173686]\|Charcot-Marie-Tooth disease type 2 [RCV000199279]\|Charcot-Marie-Tooth disease type 2A2 [RCV000002364]\|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; [RCV004558234]\|Hereditary motor and sensory neuropathy with optic atrophy [RCV00019024 ... (more) 5]\|Inborn genetic diseases [RCV003162206]\|Neuropathy, hereditary motor and sensory, type 6A [RCV004558235]\|Short stature [RCV000415132]\|not provided [RCV000200468]	pathogenic\|likely pathogenic	1	11992659	11992659	Human	28	alternate_id
401719449	CV1936667	indel	NM_182758.4(WDR72):c.2680_2699delinsACTATAGTT (p.Ser894fs)	Amelogenesis imperfecta [RCV003313811]	pathogenic	15	53615507	53615526	Human		alternate_id
401719452	CV1936668	deletion	NM_182758.4(WDR72):c.1766-2423_1962+1074del	Amelogenesis imperfecta [RCV003313812]	pathogenic	15	53664498	53668191	Human	2	alternate_id
401721934	CV1952241	duplication	NM_182758.4(WDR72):c.2332dup (p.Met778fs)	Amelogenesis imperfecta [RCV003314736]	pathogenic	15	53615873	53615874	Human	2	alternate_id
401721935	CV1952242	deletion	NM_182758.4(WDR72):c.1287_1289del (p.Ile430del)	Amelogenesis imperfecta [RCV003314737]	pathogenic	15	53705047	53705049	Human	2	alternate_id
12738799	CV263522	deletion	NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)	Amelogenesis imperfecta [RCV000495953]\|Amelogenesis imperfecta, hypomaturation type, IIa6 [RCV000412570]	pathogenic	14	91234216	91234665	Human	3	alternate_id
12740646	CV263523	deletion	NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)	Amelogenesis imperfecta [RCV000495945]\|Amelogenesis imperfecta, hypomaturation type, IIa6 [RCV000412608]	pathogenic	14	91234383	91234384	Human	3	alternate_id
12740623	CV263524	single nucleotide variant	NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)	Amelogenesis imperfecta [RCV000495950]\|Amelogenesis imperfecta, hypomaturation type, IIa6 [RCV000412503]	pathogenic	14	91234830	91234830	Human	3	alternate_id
401962855	CV2738070	single nucleotide variant	NM_152222.2(RELT):c.521T>G (p.Leu174Arg)	Amelogenesis imperfecta [RCV003482916]	likely pathogenic	11	73392364	73392364	Human	2	alternate_id
401962854	CV2738084	duplication	NM_000494.4(COL17A1):c.4156+2dup	Amelogenesis imperfecta [RCV003482917]	pathogenic	10	104033942	104033943	Human	2	alternate_id
401962848	CV2738085	single nucleotide variant	NM_152222.2(RELT):c.260A>T (p.Asp87Val)	Amelogenesis imperfecta [RCV003482918]	likely pathogenic	11	73390894	73390894	Human	2	alternate_id
405261620	CV2743217	single nucleotide variant	NM_000494.4(COL17A1):c.3598G>T (p.Asp1200Tyr)	Amelogenesis imperfecta [RCV003883505]	pathogenic	10	104035284	104035284	Human	2	alternate_id
405261622	CV2743218	single nucleotide variant	NM_000494.4(COL17A1):c.1700G>A (p.Gly567Glu)	Amelogenesis imperfecta [RCV003883506]	pathogenic	10	104055389	104055389	Human	2	alternate_id
405261625	CV2743219	deletion	NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)	Amelogenesis imperfecta [RCV003883507]	pathogenic	1	209615315	209615327	Human	2	alternate_id
405727941	CV3235318	duplication	NM_182758.4(WDR72):c.2019dup (p.Trp674fs)	Amelogenesis imperfecta [RCV004018350]\|Amelogenesis imperfecta hypomaturation type 2A3 [RCV005006363]	likely pathogenic	15	53616186	53616187	Human	3	alternate_id
8600589	CV32501	single nucleotide variant	NM_000094.4(COL7A1):c.706C>T (p.Arg236Ter)	Epidermolysis bullosa dystrophica [RCV001352750]\|Epidermolysis bullosa dystrophica inversa, autosomal recessive [RCV000019013]\|Recessive dystrophic epidermolysis bullosa [RCV000019014]\|Short stature [RCV000415442]\|not provided [RCV001384443]	pathogenic	3	48592915	48592915	Human	17	alternate_id
8600590	CV32502	single nucleotide variant	NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)	Abnormal blistering of the skin [RCV000626608]\|COL7A1-related disorder [RCV003924844]\|Epidermolysis bullosa dystrophica [RCV001352770]\|Epidermolysis bullosa dystrophica inversa, autosomal recessive [RCV000019015]\|Epidermolysis bullosa pruriginosa [RCV001199071]\|Generalized dominant dystrophic epider ... (more) molysis bullosa [RCV001251179]\|Recessive dystrophic epidermolysis bullosa [RCV002276566]\|Recessive dystrophic epidermolysis bullosa [RCV002496411]\|Short stature [RCV000414882]\|not provided [RCV000498291]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	3	48575218	48575218	Human	29	alternate_id
12741945	CV361021	duplication	NM_005220.3(DLX3):c.574dup (p.Glu192fs)	Amelogenesis imperfecta [RCV000415464]\|Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism [RCV001198203]	likely pathogenic	17	49991806	49991807	Human	4	alternate_id
12741510	CV361767	single nucleotide variant	NM_033068.3(ACP4):c.713C>T (p.Ser238Leu)	Amelogenesis imperfecta [RCV001643139]\|Amelogenesis imperfecta type 1 [RCV005355706]\|Amelogenesis imperfecta, type 1J [RCV000415604]	pathogenic\|uncertain significance	19	50793751	50793751	Human	3	alternate_id
13533101	CV497683	single nucleotide variant	NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)	Amelogenesis imperfecta [RCV000604368]\|Amelogenesis imperfecta hypomaturation type 2A3 [RCV002272302]\|not provided [RCV005250083]	pathogenic\|likely pathogenic	15	53733062	53733062	Human	3	alternate_id
14699584	CV609037	deletion	NM_001142.2(AMELX):c.143del (p.Pro48fs)	Amelogenesis imperfecta [RCV000789003]	pathogenic	X	11298275	11298275	Human	2	alternate_id
26902938	CV858321	single nucleotide variant	NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)	Amelogenesis imperfecta [RCV001089669]\|Deficiency of phosphoserine phosphatase [RCV001862662]	benign\|uncertain significance	7	56017257	56017257	Human	3	alternate_id
26902940	CV858322	single nucleotide variant	NM_016139.4(CHCHD2):c.418G>A (p.Val140Met)	Amelogenesis imperfecta [RCV001089670]	benign	7	56102894	56102894	Human	2	alternate_id
26902941	CV858323	single nucleotide variant	NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr)	Amelogenesis imperfecta [RCV001089671]\|BNC2-related disorder [RCV004751878]	benign\|likely benign	9	16419429	16419429	Human	3	alternate_id
150406288	CV985547	indel	NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)	Amelogenesis imperfecta [RCV001579315]\|Amelogenesis imperfecta, IIa 1K [RCV003329399]	pathogenic	17	47847612	47847613	Human		alternate_id
8643614	CV102879	single nucleotide variant	NM_001142.2(AMELX):c.129G>C (p.Gln43His)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083240]	not provided	X	11298262	11298262	Human		alternate_id
8643615	CV102880	single nucleotide variant	NM_001142.2(AMELX):c.131G>A (p.Ser44Asn)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083241]	not provided	X	11298264	11298264	Human		alternate_id
8643616	CV102881	single nucleotide variant	NM_001142.2(AMELX):c.132C>A (p.Ser44Arg)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083242]	not provided	X	11298265	11298265	Human		alternate_id
8643617	CV102882	single nucleotide variant	NM_198488.5(FAM83H):c.2250C>T (p.Gly750=)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083243]	likely pathogenic\|not provided	8	143727211	143727211	Human	1	alternate_id
8643618	CV102883	single nucleotide variant	NM_198488.5(FAM83H):c.2765G>T (p.Arg922Leu)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083244]	not provided	8	143726696	143726696	Human		alternate_id
8643619	CV102884	single nucleotide variant	NM_198488.5(FAM83H):c.2766C>T (p.Arg922=)	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 [RCV000083245]	not provided	8	143726695	143726695	Human		alternate_id
150334089	CV1164347	deletion	NM_000494.4(COL17A1):c.1179del (p.Ala394fs)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local [RCV004527426]\|not provided [RCV001529283]	pathogenic\|likely pathogenic	10	104059681	104059681	Human	1	alternate_id
15111854	CV691569	single nucleotide variant	NM_002448.3(MSX1):c.218C>T (p.Pro73Leu)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000872407]\|Orofacial cleft 5 [RCV002478981]	benign\|likely benign	4	4860117	4860117	Human	2	trait , alternate_id
405867420	CV3401333	single nucleotide variant	NM_005253.4(FOSL2):c.595C>T (p.Arg199Ter)	Aplasia cutis-enamel dysplasia syndrome [RCV004577644]	pathogenic	2	28412062	28412062	Human	1	trait
405867467	CV3401334	single nucleotide variant	NM_005253.4(FOSL2):c.619C>T (p.Gln207Ter)	Aplasia cutis-enamel dysplasia syndrome [RCV004577645]	pathogenic	2	28412086	28412086	Human	1	trait
405867423	CV3401335	deletion	NM_005253.4(FOSL2):c.662_663del (p.Val221fs)	Aplasia cutis-enamel dysplasia syndrome [RCV004577646]	pathogenic	2	28412128	28412129	Human	1	trait
405867424	CV3401336	deletion	NM_005253.4(FOSL2):c.605del (p.Pro202fs)	Aplasia cutis-enamel dysplasia syndrome [RCV004577647]	pathogenic	2	28412068	28412068	Human	1	trait
405867426	CV3401337	deletion	NM_005253.4(FOSL2):c.579_589del (p.Ser194fs)	Aplasia cutis-enamel dysplasia syndrome [RCV004577648]	pathogenic	2	28412046	28412056	Human	1	trait
126749122	CV1005301	single nucleotide variant	NM_002448.3(MSX1):c.670C>T (p.Arg224Cys)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001326470]	uncertain significance	4	4862901	4862901	Human	1	trait
126750591	CV1025883	single nucleotide variant	NM_002448.3(MSX1):c.796G>A (p.Ala266Thr)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001338072]	uncertain significance	4	4863027	4863027	Human	1	trait
127311015	CV1135764	single nucleotide variant	NM_002448.3(MSX1):c.108C>A (p.Ala36=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001481314]	likely benign	4	4860007	4860007	Human	1	trait
127325041	CV1135765	single nucleotide variant	NM_002448.3(MSX1):c.195G>A (p.Ala65=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001505869]	likely benign	4	4860094	4860094	Human	1	trait
127328792	CV1135766	single nucleotide variant	NM_002448.3(MSX1):c.526C>A (p.Arg176=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001486971]	likely benign	4	4862757	4862757	Human	1	trait
127319956	CV1154790	single nucleotide variant	NM_002448.3(MSX1):c.297G>C (p.Pro99=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001522391]	benign	4	4860196	4860196	Human	1	trait
151823774	CV1349392	single nucleotide variant	NM_002448.3(MSX1):c.280C>T (p.Gln94Ter)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001934405]	pathogenic	4	4860179	4860179	Human	1	trait
151792611	CV1399432	duplication	NM_002448.3(MSX1):c.683dup (p.Arg229fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001898322]	pathogenic	4	4862911	4862912	Human	1	trait
151797381	CV1424337	single nucleotide variant	NM_002448.3(MSX1):c.850C>T (p.Pro284Ser)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002047668]	uncertain significance	4	4863081	4863081	Human	1	trait
151834308	CV1493492	deletion	NM_002448.3(MSX1):c.741_750del (p.Pro248fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001935378]	uncertain significance	4	4862966	4862975	Human	1	trait
152065986	CV1620110	single nucleotide variant	NM_002448.3(MSX1):c.77G>C (p.Gly26Ala)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002209349]	likely benign	4	4859976	4859976	Human	1	trait
156390211	CV1872597	single nucleotide variant	NM_002448.3(MSX1):c.100A>G (p.Ser34Gly)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003051232]	uncertain significance	4	4859999	4859999	Human	1	trait
156038452	CV1890824	single nucleotide variant	NM_002448.3(MSX1):c.438G>A (p.Met146Ile)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003078414]	uncertain significance	4	4860337	4860337	Human	1	trait
156449948	CV1938457	single nucleotide variant	NM_002448.3(MSX1):c.545C>T (p.Ala182Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003122080]	uncertain significance	4	4862776	4862776	Human	1	trait
156438136	CV1939605	deletion	NC_000004.11:g.(?_4861627)_(6304195_?)del	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003107680]	pathogenic				Human	1	trait
156438137	CV1939606	deletion	NC_000004.11:g.(?_4859065)_(4864603_?)del	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003107681]	pathogenic				Human	1	trait
156246627	CV2029422	single nucleotide variant	NM_002448.3(MSX1):c.527G>A (p.Arg176Gln)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002745849]	uncertain significance	4	4862758	4862758	Human	1	trait
156205296	CV2073975	duplication	NM_002448.3(MSX1):c.487dup (p.Ala163fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002829092]	pathogenic	4	4862717	4862718	Human	1	trait
156306319	CV2129793	single nucleotide variant	NM_002448.3(MSX1):c.557C>T (p.Ala186Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002962382]	uncertain significance	4	4862788	4862788	Human	1	trait
155983865	CV2163295	single nucleotide variant	NM_002448.3(MSX1):c.629G>A (p.Ser210Asn)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003034006]	likely benign	4	4862860	4862860	Human	1	trait
405047305	CV2892867	single nucleotide variant	NM_002448.3(MSX1):c.426G>A (p.Arg142=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003518557]	likely benign	4	4860325	4860325	Human	1	trait
405049279	CV2894668	single nucleotide variant	NM_002448.3(MSX1):c.470-9G>A	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003518746]	uncertain significance	4	4862692	4862692	Human	1	trait
405046381	CV3008231	single nucleotide variant	NM_002448.3(MSX1):c.461C>T (p.Pro154Leu)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003630807]	uncertain significance	4	4860360	4860360	Human	1	trait
402507313	CV3044001	single nucleotide variant	NM_002448.3(MSX1):c.260A>G (p.Gln87Arg)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003628945]	benign	4	4860159	4860159	Human	1	trait
402525394	CV3123699	single nucleotide variant	NM_002448.3(MSX1):c.624G>C (p.Ser208=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003825125]	likely benign	4	4862855	4862855	Human	1	trait
402471524	CV3171582	single nucleotide variant	NM_002448.3(MSX1):c.912G>A (p.Ter304=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003874366]	likely benign	4	4863143	4863143	Human	1	trait
402473617	CV3172232	single nucleotide variant	NM_002448.3(MSX1):c.371T>A (p.Leu124His)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003874835]	uncertain significance	4	4860270	4860270	Human	1	trait
405875713	CV3402747	deletion	NC_000004.11:g.(?_4861627)_(4862115_?)del	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV004580711]	pathogenic				Human	1	trait
405875715	CV3402749	deletion	NC_000004.11:g.(?_4864676)_(4960528_?)del	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV004580713]	pathogenic				Human	1	trait
597836040	CV3764473	single nucleotide variant	NM_002448.3(MSX1):c.390G>T (p.Ala130=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005107273]	likely benign	4	4860289	4860289	Human	1	trait
597844346	CV3776791	deletion	NM_002448.3(MSX1):c.668_669del (p.Arg223fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005119647]	pathogenic	4	4862898	4862899	Human	1	trait
597849445	CV3780602	single nucleotide variant	NM_002448.3(MSX1):c.473G>C (p.Arg158Pro)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005124730]	uncertain significance	4	4862704	4862704	Human	1	trait
597868296	CV3801085	deletion	NM_002448.3(MSX1):c.691_692del (p.Gln231fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005143280]	pathogenic	4	4862921	4862922	Human	1	trait
597890185	CV3830583	duplication	NM_002448.3(MSX1):c.365dup (p.Leu123fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005164723]	pathogenic	4	4860258	4860259	Human	1	trait
597918887	CV3837867	single nucleotide variant	NM_002448.3(MSX1):c.472C>T (p.Arg158Trp)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005193851]	uncertain significance	4	4862703	4862703	Human	1	trait
597912055	CV3852745	single nucleotide variant	NM_002448.3(MSX1):c.797C>A (p.Ala266Glu)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005187144]	uncertain significance	4	4863028	4863028	Human	1	trait
597914640	CV3852975	single nucleotide variant	NM_002448.3(MSX1):c.354C>T (p.Phe118=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV005189856]	likely benign	4	4860253	4860253	Human	1	trait
13485011	CV453198	single nucleotide variant	NM_002448.3(MSX1):c.123C>A (p.Ala41=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001450153]	likely benign	4	4860022	4860022	Human	1	trait
13496347	CV453202	single nucleotide variant	NM_002448.3(MSX1):c.365G>T (p.Gly122Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000560292]	uncertain significance	4	4860264	4860264	Human	1	trait
13465822	CV453459	single nucleotide variant	NM_002448.3(MSX1):c.324G>T (p.Ala108=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002527748]	likely benign	4	4860223	4860223	Human	1	trait
13479074	CV453935	single nucleotide variant	NM_002448.3(MSX1):c.89G>C (p.Gly30Ala)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000550347]	uncertain significance	4	4859988	4859988	Human	1	trait
13481772	CV453940	single nucleotide variant	NM_002448.3(MSX1):c.127A>C (p.Met43Leu)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000987403]	benign	4	4860026	4860026	Human	1	trait
13468561	CV453942	single nucleotide variant	NM_002448.3(MSX1):c.661C>T (p.Gln221Ter)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000544581]	pathogenic	4	4862892	4862892	Human	1	trait
13491788	CV453944	indel	NM_002448.3(MSX1):c.752_753delinsAA (p.Phe251Ter)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000556981]	uncertain significance	4	4862983	4862984	Human		trait
13807057	CV559850	single nucleotide variant	NM_002448.3(MSX1):c.95C>T (p.Ala32Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000686500]	likely benign\|uncertain significance	4	4859994	4859994	Human	1	trait
13807391	CV563721	single nucleotide variant	NM_002448.3(MSX1):c.310G>C (p.Gly104Arg)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000701085]	uncertain significance	4	4860209	4860209	Human	1	trait
14705682	CV632230	single nucleotide variant	NM_002448.3(MSX1):c.102C>G (p.Ser34Arg)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000801655]	uncertain significance	4	4860001	4860001	Human	1	trait
15110941	CV691570	single nucleotide variant	NM_002448.3(MSX1):c.624G>T (p.Ser208=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003629144]	likely benign	4	4862855	4862855	Human	1	trait
15113983	CV691571	single nucleotide variant	NM_002448.3(MSX1):c.778C>A (p.Pro260Thr)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001503619]	likely benign	4	4863009	4863009	Human	1	trait
15146748	CV781961	single nucleotide variant	NM_002448.3(MSX1):c.821C>T (p.Ala274Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000983935]	likely benign	4	4863052	4863052	Human	1	trait
26897049	CV829191	deletion	NM_002448.3(MSX1):c.655_659del (p.Trp219fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001048347]	pathogenic	4	4862886	4862890	Human	1	trait
38461332	CV918896	single nucleotide variant	NM_002448.3(MSX1):c.89G>A (p.Gly30Asp)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001197533]	likely benign	4	4859988	4859988	Human	1	trait
38483167	CV923522	single nucleotide variant	NM_002448.3(MSX1):c.581A>G (p.Lys194Arg)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001218812]	uncertain significance	4	4862812	4862812	Human	1	trait
40814959	CV970794	single nucleotide variant	NM_002448.3(MSX1):c.599C>T (p.Ala200Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001262377]	uncertain significance	4	4862830	4862830	Human	1	trait
12738961	CV360986	single nucleotide variant	NM_000548.5(TSC2):c.5160+4A>C	Dental enamel pits [RCV000415445]\|Lymphangiomyomatosis [RCV001196213]	pathogenic\|likely pathogenic	16	2088143	2088143	Human	5	trait
127296936	CV1154639	single nucleotide variant	NM_001012614.2(CTBP1):c.486C>T (p.Arg162=)	4p partial monosomy syndrome [RCV002501769]\|CTBP1-related disorder [RCV003931066]\|not provided [RCV001512692]	benign\|likely benign	4	1225388	1225388	Human	3	alternate_id
243064688	CV2414952	single nucleotide variant	NM_001012614.2(CTBP1):c.68A>G (p.Asp23Gly)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003143385]	uncertain significance	4	1238277	1238277	Human	1	trait
243064689	CV2414953	single nucleotide variant	NM_001012614.2(CTBP1):c.1075G>A (p.Val359Met)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003143386]	uncertain significance	4	1212944	1212944	Human	1	trait
243064690	CV2414954	single nucleotide variant	NM_001012614.2(CTBP1):c.336G>A (p.Ala112=)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003143387]	uncertain significance	4	1225538	1225538	Human	1	trait
243057043	CV2414957	single nucleotide variant	NM_001012614.2(CTBP1):c.564C>T (p.Asn188=)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003145899]	uncertain significance	4	1216156	1216156	Human	1	trait
243057044	CV2414958	single nucleotide variant	NM_001012614.2(CTBP1):c.517C>T (p.Arg173Cys)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003145900]	uncertain significance	4	1216203	1216203	Human	1	trait
243050660	CV2415502	single nucleotide variant	NM_001012614.2(CTBP1):c.580C>T (p.Pro194Ser)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003148077]	uncertain significance	4	1216140	1216140	Human	1	trait
243051031	CV2415668	single nucleotide variant	NM_001012614.2(CTBP1):c.541C>T (p.Arg181Trp)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003148270]	uncertain significance	4	1216179	1216179	Human	1	trait
405281760	CV3224334	single nucleotide variant	NM_001012614.2(CTBP1):c.263G>T (p.Gly88Val)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003988716]	uncertain significance	4	1228243	1228243	Human	1	trait
597654888	CV3552166	single nucleotide variant	NM_001012614.2(CTBP1):c.1225G>A (p.Ala409Thr)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV004821024]	uncertain significance	4	1212305	1212305	Human	1	trait
617151251	CV4017801	single nucleotide variant	NM_001012614.2(CTBP1):c.1039G>T (p.Ala347Ser)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV005417589]	uncertain significance	4	1212980	1212980	Human	1	trait
13516663	CV494919	single nucleotide variant	CTBP1, ARG331TRP AND HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY,	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME [RCV000595812]	pathogenic				Human		trait
38461790	CV918877	single nucleotide variant	NM_001012614.2(CTBP1):c.286A>G (p.Ile96Val)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV001197930]	uncertain significance	4	1228220	1228220	Human	1	trait
126745750	CV1010867	single nucleotide variant	NM_020751.3(COG6):c.695G>A (p.Ser232Asn)	COG6-congenital disorder of glycosylation [RCV001315109]	uncertain significance	13	39682171	39682171	Human	2	alternate_id
126727249	CV1017755	single nucleotide variant	NM_020751.3(COG6):c.299A>T (p.Glu100Val)	COG6-congenital disorder of glycosylation [RCV001332354]\|COG6-congenital disorder of glycosylation [RCV002546553]\|not provided [RCV003145579]	uncertain significance	13	39660811	39660811	Human	2	alternate_id
8642902	CV101886	single nucleotide variant	NM_020751.3(COG6):c.1074+18T>C	COG6-congenital disorder of glycosylation [RCV001520762]\|not provided [RCV004707940]\|not specified [RCV000082044]	benign	13	39689842	39689842	Human	2	alternate_id
8642903	CV101887	deletion	NM_020751.3(COG6):c.1693-4del	COG6-congenital disorder of glycosylation [RCV001514638]\|Congenital disorder of glycosylation [RCV000281219]\|not specified [RCV000082045]	benign\|likely benign	13	39724502	39724502	Human	3	alternate_id
8642904	CV101888	single nucleotide variant	NM_020751.3(COG6):c.1693-6A>T	COG6-congenital disorder of glycosylation [RCV000319843]\|COG6-congenital disorder of glycosylation [RCV000870742]\|not provided [RCV004704844]\|not specified [RCV000082046]	benign\|likely benign\|conflicting interpretations of pathogenicity	13	39724502	39724502	Human	2	alternate_id
126749493	CV1031369	single nucleotide variant	NM_020751.3(COG6):c.119A>G (p.His40Arg)	COG6-congenital disorder of glycosylation [RCV001337863]\|Inborn genetic diseases [RCV003346485]	uncertain significance	13	39655845	39655845	Human	3	alternate_id
126768213	CV1031370	single nucleotide variant	NM_020751.3(COG6):c.1036G>A (p.Val346Ile)	COG6-congenital disorder of glycosylation [RCV001343216]	uncertain significance	13	39689786	39689786	Human	2	alternate_id
126918352	CV1048330	duplication	NM_020751.3(COG6):c.1892dup (p.Met632fs)	COG6-congenital disorder of glycosylation [RCV001372610]	uncertain significance	13	39751010	39751011	Human	2	alternate_id
127235573	CV1080076	single nucleotide variant	NM_020751.3(COG6):c.126C>T (p.Ile42=)	COG6-congenital disorder of glycosylation [RCV001391912]	likely benign	13	39655852	39655852	Human	2	alternate_id
127269908	CV1080077	single nucleotide variant	NM_020751.3(COG6):c.788+10T>A	COG6-congenital disorder of glycosylation [RCV001404836]	likely benign	13	39682274	39682274	Human	2	alternate_id
127266884	CV1080078	single nucleotide variant	NM_020751.3(COG6):c.1357T>C (p.Leu453=)	COG6-congenital disorder of glycosylation [RCV001403965]	likely benign	13	39719308	39719308	Human	2	alternate_id
127254373	CV1101867	single nucleotide variant	NM_020751.3(COG6):c.981A>G (p.Glu327=)	COG6-congenital disorder of glycosylation [RCV001437218]	likely benign	13	39687771	39687771	Human	2	alternate_id
127308414	CV1144202	single nucleotide variant	NM_020751.3(COG6):c.1242C>T (p.Phe414=)	COG6-congenital disorder of glycosylation [RCV001500782]	likely benign	13	39699576	39699576	Human	2	alternate_id
151842118	CV1357603	single nucleotide variant	NM_020751.3(COG6):c.70G>T (p.Ala24Ser)	COG6-congenital disorder of glycosylation [RCV001881479]	uncertain significance	13	39655796	39655796	Human	2	alternate_id
151848170	CV1362018	single nucleotide variant	NM_020751.3(COG6):c.1826+3A>C	COG6-congenital disorder of glycosylation [RCV001936995]	uncertain significance	13	39727551	39727551	Human	2	alternate_id
151868336	CV1366881	deletion	NM_020751.3(COG6):c.252del (p.Ala85fs)	COG6-congenital disorder of glycosylation [RCV001939452]	pathogenic	13	39659462	39659462	Human	2	alternate_id
151823129	CV1378291	single nucleotide variant	NM_020751.3(COG6):c.1585-2A>G	COG6-congenital disorder of glycosylation [RCV002049998]	likely pathogenic	13	39723331	39723331	Human	2	alternate_id
151816052	CV1378804	single nucleotide variant	NM_020751.3(COG6):c.956C>T (p.Thr319Ile)	COG6-congenital disorder of glycosylation [RCV001900423]\|Inborn genetic diseases [RCV003365488]	uncertain significance	13	39687746	39687746	Human	3	alternate_id
151882603	CV1381818	single nucleotide variant	NM_020751.3(COG6):c.535A>G (p.Thr179Ala)	COG6-congenital disorder of glycosylation [RCV001941331]	uncertain significance	13	39677574	39677574	Human	2	alternate_id
151726688	CV1387213	single nucleotide variant	NM_020751.3(COG6):c.1145A>G (p.Lys382Arg)	COG6-congenital disorder of glycosylation [RCV001910429]\|COG6-related disorder [RCV004538619]	likely benign\|uncertain significance	13	39694704	39694704	Human	2	alternate_id
151736701	CV1387920	single nucleotide variant	NM_020751.3(COG6):c.26T>A (p.Val9Asp)	COG6-congenital disorder of glycosylation [RCV002005381]	uncertain significance	13	39655752	39655752	Human	2	alternate_id
151833720	CV1396399	single nucleotide variant	NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr)	COG6-congenital disorder of glycosylation [RCV001902063]\|Inborn genetic diseases [RCV004980800]	uncertain significance	13	39689771	39689771	Human	3	alternate_id
151857138	CV1408012	single nucleotide variant	NM_020751.3(COG6):c.1043A>G (p.His348Arg)	COG6-congenital disorder of glycosylation [RCV001883463]	uncertain significance	13	39689793	39689793	Human	2	alternate_id
151840499	CV1415390	single nucleotide variant	NM_020751.3(COG6):c.80C>G (p.Thr27Ser)	COG6-congenital disorder of glycosylation [RCV001921476]\|Inborn genetic diseases [RCV002560451]\|not provided [RCV004693976]	uncertain significance	13	39655806	39655806	Human	3	alternate_id
151772353	CV1416945	single nucleotide variant	NM_020751.3(COG6):c.989T>C (p.Leu330Ser)	COG6-congenital disorder of glycosylation [RCV001971305]	uncertain significance	13	39687779	39687779	Human	2	alternate_id
151715579	CV1434848	single nucleotide variant	NM_020751.3(COG6):c.1484C>G (p.Ala495Gly)	COG6-congenital disorder of glycosylation [RCV001890271]	uncertain significance	13	39719727	39719727	Human	2	alternate_id
151860393	CV1452256	single nucleotide variant	NM_020751.3(COG6):c.53A>G (p.Asn18Ser)	COG6-congenital disorder of glycosylation [RCV002017683]\|Inborn genetic diseases [RCV004046264]	uncertain significance	13	39655779	39655779	Human	3	alternate_id
151814002	CV1460446	single nucleotide variant	NM_020751.3(COG6):c.1009+6T>C	COG6-congenital disorder of glycosylation [RCV001878554]	uncertain significance	13	39687805	39687805	Human	2	alternate_id
152071679	CV1544419	single nucleotide variant	NM_020751.3(COG6):c.939T>C (p.Ala313=)	COG6-congenital disorder of glycosylation [RCV002129693]	benign	13	39687729	39687729	Human	2	alternate_id
152036301	CV1545975	single nucleotide variant	NM_020751.3(COG6):c.1558A>C (p.Arg520=)	COG6-congenital disorder of glycosylation [RCV002164997]	likely benign	13	39719801	39719801	Human	2	alternate_id
152125195	CV1565520	single nucleotide variant	NM_020751.3(COG6):c.1009+15T>C	COG6-congenital disorder of glycosylation [RCV002136223]	likely benign	13	39687814	39687814	Human	2	alternate_id
152143512	CV1579670	single nucleotide variant	NM_020751.3(COG6):c.1692+19C>T	COG6-congenital disorder of glycosylation [RCV002084478]	likely benign	13	39723459	39723459	Human	2	alternate_id
152121079	CV1593923	single nucleotide variant	NM_020751.3(COG6):c.1747-19A>G	COG6-congenital disorder of glycosylation [RCV002098156]	likely benign	13	39727450	39727450	Human	2	alternate_id
152120165	CV1664938	single nucleotide variant	NM_020751.3(COG6):c.154-12C>T	COG6-congenital disorder of glycosylation [RCV002117750]	likely benign	13	39659352	39659352	Human	2	alternate_id
9688626	CV177144	single nucleotide variant	NM_020751.3(COG6):c.898C>T (p.His300Tyr)	COG6-congenital disorder of glycosylation [RCV000315502]\|COG6-congenital disorder of glycosylation [RCV001079359]\|not provided [RCV000514681]\|not specified [RCV000153070]	benign\|likely benign	13	39687612	39687612	Human	2	alternate_id
155983662	CV1883793	single nucleotide variant	NM_020751.3(COG6):c.694+7G>T	COG6-congenital disorder of glycosylation [RCV003075784]\|COG6-related disorder [RCV004540538]	likely benign	13	39680052	39680052	Human	2	alternate_id
156412503	CV1890637	single nucleotide variant	NM_020751.3(COG6):c.203G>A (p.Ser68Asn)	COG6-congenital disorder of glycosylation [RCV003072920]	uncertain significance	13	39659413	39659413	Human	2	alternate_id
156364450	CV1897210	single nucleotide variant	NM_020751.3(COG6):c.1542A>G (p.Leu514=)	COG6-congenital disorder of glycosylation [RCV002581960]	likely benign	13	39719785	39719785	Human	2	alternate_id
10049556	CV190600	single nucleotide variant	NM_020751.3(COG6):c.28G>A (p.Ala10Thr)	COG6-congenital disorder of glycosylation [RCV000381290]\|COG6-congenital disorder of glycosylation [RCV001520760]\|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [RCV001582669]\|not provided [RCV004708072]\|not specified [R ... (more) CV000173505]	benign	13	39655754	39655754	Human	2	trait , alternate_id
10049557	CV190601	single nucleotide variant	NM_020751.3(COG6):c.94T>A (p.Cys32Ser)	COG6-congenital disorder of glycosylation [RCV000377970]\|COG6-congenital disorder of glycosylation [RCV001520761]\|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [RCV001582670]\|not provided [RCV004706610]\|not specified [R ... (more) CV000173506]	benign	13	39655820	39655820	Human	2	trait , alternate_id
10050453	CV191941	single nucleotide variant	NM_020751.3(COG6):c.1693-12T>C	COG6-congenital disorder of glycosylation [RCV002056932]\|not provided [RCV000175223]	likely benign\|uncertain significance	13	39724496	39724496	Human	2	alternate_id
10049103	CV195742	duplication	NM_020751.3(COG6):c.624-3dup	COG6-congenital disorder of glycosylation [RCV001510867]\|Congenital disorder of glycosylation [RCV000398716]\|not provided [RCV001618336]\|not specified [RCV000179965]	benign\|likely benign	13	39679963	39679964	Human	3	alternate_id
156278582	CV1971246	single nucleotide variant	NM_020751.3(COG6):c.1362A>G (p.Ala454=)	COG6-congenital disorder of glycosylation [RCV002598320]	likely benign	13	39719313	39719313	Human	2	alternate_id
156274506	CV2004357	single nucleotide variant	NM_020751.3(COG6):c.993G>A (p.Lys331=)	COG6-congenital disorder of glycosylation [RCV002646642]	likely benign	13	39687783	39687783	Human	2	alternate_id
156366811	CV2010807	single nucleotide variant	NM_020751.3(COG6):c.723A>G (p.Ser241=)	COG6-congenital disorder of glycosylation [RCV002676619]	likely benign	13	39682199	39682199	Human	2	alternate_id
156214063	CV2038930	deletion	NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)	COG6-congenital disorder of glycosylation [RCV002766718]	uncertain significance	13	39751058	39751061	Human	2	alternate_id
156006030	CV2041952	single nucleotide variant	NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)	COG6-congenital disorder of glycosylation [RCV002756435]\|Inborn genetic diseases [RCV002756436]	uncertain significance	13	39719669	39719669	Human	3	alternate_id
155967566	CV2076996	single nucleotide variant	NM_020751.3(COG6):c.24G>A (p.Val8=)	COG6-congenital disorder of glycosylation [RCV002863154]	likely benign	13	39655750	39655750	Human	2	alternate_id
156141068	CV2090652	single nucleotide variant	NM_020751.3(COG6):c.871G>A (p.Gly291Arg)	COG6-congenital disorder of glycosylation [RCV002890307]	uncertain significance	13	39687585	39687585	Human	2	alternate_id
156154545	CV2098646	single nucleotide variant	NM_020751.3(COG6):c.172A>G (p.Lys58Glu)	COG6-congenital disorder of glycosylation [RCV002890768]	uncertain significance	13	39659382	39659382	Human	2	alternate_id
156295922	CV2111651	single nucleotide variant	NM_020751.3(COG6):c.739G>A (p.Val247Ile)	COG6-congenital disorder of glycosylation [RCV002922348]\|Inborn genetic diseases [RCV003170570]	uncertain significance	13	39682215	39682215	Human	3	alternate_id
156027191	CV2116570	single nucleotide variant	NM_020751.3(COG6):c.1286T>C (p.Val429Ala)	COG6-congenital disorder of glycosylation [RCV002923346]\|not provided [RCV003146684]	uncertain significance	13	39719237	39719237	Human	2	alternate_id
156164769	CV2137059	single nucleotide variant	NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)	COG6-congenital disorder of glycosylation [RCV003005199]\|Inborn genetic diseases [RCV004068488]	uncertain significance	13	39751002	39751002	Human	3	alternate_id
156133786	CV2169338	single nucleotide variant	NM_020751.3(COG6):c.1140C>G (p.Leu380=)	COG6-congenital disorder of glycosylation [RCV003022274]	likely benign	13	39694699	39694699	Human	2	alternate_id
156248841	CV2192662	single nucleotide variant	NM_020751.3(COG6):c.298-1G>A	COG6-congenital disorder of glycosylation [RCV005215939]\|not provided [RCV003059946]	likely pathogenic	13	39660809	39660809	Human	2	alternate_id
156133046	CV2195925	deletion	NM_020751.3(COG6):c.651_654del (p.Leu217fs)	COG6-congenital disorder of glycosylation [RCV003777577]\|Inborn genetic diseases [RCV002640805]	pathogenic	13	39679999	39680002	Human	3	alternate_id
11350593	CV237188	single nucleotide variant	NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)	COG6-congenital disorder of glycosylation [RCV001078557]\|COG6-congenital disorder of glycosylation [RCV001111259]\|not provided [RCV000224038]\|not specified [RCV000432164]	benign\|likely benign	13	39699514	39699514	Human	2	alternate_id
401863176	CV2776751	single nucleotide variant	NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)	COG6-congenital disorder of glycosylation [RCV003778040]\|Inborn genetic diseases [RCV003378491]	uncertain significance	13	39694664	39694664	Human	3	alternate_id
402522694	CV3086604	single nucleotide variant	NM_020751.3(COG6):c.766C>A (p.Gln256Lys)	COG6-congenital disorder of glycosylation [RCV003781221]	uncertain significance	13	39682242	39682242	Human	2	alternate_id
405022394	CV3088180	single nucleotide variant	NM_020751.3(COG6):c.870C>T (p.Pro290=)	COG6-congenital disorder of glycosylation [RCV003795740]	likely benign	13	39687584	39687584	Human	2	alternate_id
405011269	CV3096682	single nucleotide variant	NM_020751.3(COG6):c.1786T>C (p.Leu596=)	COG6-congenital disorder of glycosylation [RCV003794671]	likely benign	13	39727508	39727508	Human	2	alternate_id
404979485	CV3099428	single nucleotide variant	NM_020751.3(COG6):c.1692+14T>C	COG6-congenital disorder of glycosylation [RCV003791256]	likely benign	13	39723454	39723454	Human	2	alternate_id
405043978	CV3101033	single nucleotide variant	NM_020751.3(COG6):c.1602C>T (p.Asp534=)	COG6-congenital disorder of glycosylation [RCV003807733]	likely benign	13	39723350	39723350	Human	2	alternate_id
405158164	CV3109346	single nucleotide variant	NM_020751.3(COG6):c.1587C>T (p.Ile529=)	COG6-congenital disorder of glycosylation [RCV003801869]	likely benign	13	39723335	39723335	Human	2	alternate_id
405163401	CV3110040	single nucleotide variant	NM_020751.3(COG6):c.788+5G>A	COG6-congenital disorder of glycosylation [RCV003802399]	uncertain significance	13	39682269	39682269	Human	2	alternate_id
405153571	CV3111163	single nucleotide variant	NM_020751.3(COG6):c.1692+9A>G	COG6-congenital disorder of glycosylation [RCV003801619]	likely benign	13	39723449	39723449	Human	2	alternate_id
405107853	CV3112185	single nucleotide variant	NM_020751.3(COG6):c.1692+12G>C	COG6-congenital disorder of glycosylation [RCV003813028]	likely benign	13	39723452	39723452	Human	2	alternate_id
405077976	CV3114637	single nucleotide variant	NM_020751.3(COG6):c.370-18A>T	COG6-congenital disorder of glycosylation [RCV003810199]	likely benign	13	39665078	39665078	Human	2	alternate_id
405260200	CV3190306	single nucleotide variant	NM_020751.3(COG6):c.1836C>T (p.Ile612=)	COG6-congenital disorder of glycosylation [RCV005220792]\|COG6-related disorder [RCV004534673]	likely benign	13	39750955	39750955	Human	2	alternate_id
11606133	CV319770	single nucleotide variant	NM_020751.3(COG6):c.69G>A (p.Gly23=)	COG6-congenital disorder of glycosylation [RCV000328045]\|COG6-congenital disorder of glycosylation [RCV000875943]\|not provided [RCV003391120]\|not specified [RCV000609492]	benign\|likely benign\|uncertain significance	13	39655795	39655795	Human	2	alternate_id
11660374	CV319790	single nucleotide variant	NM_020751.3(COG6):c.1149T>G (p.Phe383Leu)	COG6-congenital disorder of glycosylation [RCV000366573]\|COG6-congenital disorder of glycosylation [RCV001850649]\|Inborn genetic diseases [RCV002522290]	uncertain significance	13	39694708	39694708	Human	3	alternate_id
11599378	CV319802	single nucleotide variant	NM_020751.3(COG6):c.1340T>C (p.Met447Thr)	COG6-congenital disorder of glycosylation [RCV000264952]\|COG6-congenital disorder of glycosylation [RCV001520763]\|COG6-related disorder [RCV004544552]\|not provided [RCV004708335]\|not specified [RCV000424602]	benign\|likely benign	13	39719291	39719291	Human	2	alternate_id
11623914	CV328301	single nucleotide variant	NM_020751.3(COG6):c.320A>T (p.Asp107Val)	COG6-congenital disorder of glycosylation [RCV000379241]\|COG6-congenital disorder of glycosylation [RCV000650373]\|COG6-related disorder [RCV004537768]\|not provided [RCV003144201]	likely benign\|uncertain significance	13	39660832	39660832	Human	2	alternate_id
11621600	CV328304	single nucleotide variant	NM_020751.3(COG6):c.729C>T (p.Asp243=)	COG6-congenital disorder of glycosylation [RCV000350561]\|COG6-congenital disorder of glycosylation [RCV000872577]\|not provided [RCV001726109]\|not specified [RCV000436403]	benign\|likely benign\|uncertain significance	13	39682205	39682205	Human	2	alternate_id
11617978	CV328309	single nucleotide variant	NM_020751.3(COG6):c.1075-12A>C	COG6-congenital disorder of glycosylation [RCV000309527]\|COG6-congenital disorder of glycosylation [RCV002056388]\|COG6-related disorder [RCV004544551]\|not specified [RCV000438172]	likely benign\|uncertain significance	13	39694622	39694622	Human	2	alternate_id
11624460	CV328310	single nucleotide variant	NM_020751.3(COG6):c.1759C>T (p.Arg587Cys)	COG6-congenital disorder of glycosylation [RCV000386062]\|COG6-congenital disorder of glycosylation [RCV001850650]\|Inborn genetic diseases [RCV002520885]	uncertain significance	13	39727481	39727481	Human	3	alternate_id
11622229	CV328323	deletion	NM_020751.3(COG6):c.*315del	COG6-congenital disorder of glycosylation [RCV002504078]\|Congenital disorder of glycosylation [RCV000358010]	likely benign	13	39751400	39751400	Human	3	alternate_id
11624484	CV328344	single nucleotide variant	NM_020751.3(COG6):c.*1532T>G	COG6-congenital disorder of glycosylation [RCV000386797]\|COG6-congenital disorder of glycosylation [RCV002480126]	uncertain significance	13	39752625	39752625	Human	2	alternate_id
11621637	CV334782	single nucleotide variant	NM_020751.3(COG6):c.1947G>A (p.Pro649=)	COG6-congenital disorder of glycosylation [RCV000350960]\|COG6-congenital disorder of glycosylation [RCV000871302]\|not provided [RCV005243193]\|not specified [RCV000432627]	likely benign\|uncertain significance	13	39751066	39751066	Human	2	alternate_id
11622659	CV336505	single nucleotide variant	NM_020751.3(COG6):c.1009+9A>G	COG6-congenital disorder of glycosylation [RCV000363166]\|COG6-congenital disorder of glycosylation [RCV001517511]\|not provided [RCV004708334]\|not specified [RCV000434077]	benign\|likely benign	13	39687808	39687808	Human	2	alternate_id
11618662	CV336519	deletion	NM_020751.3(COG6):c.1693-7_1693-6del	COG6-congenital disorder of glycosylation [RCV000550359]\|Congenital disorder of glycosylation [RCV000316412]\|not specified [RCV000455817]	benign\|likely benign	13	39724501	39724502	Human	3	alternate_id
12844088	CV372822	single nucleotide variant	NM_020751.3(COG6):c.855C>T (p.Leu285=)	COG6-congenital disorder of glycosylation [RCV000872607]\|not provided [RCV004703972]\|not specified [RCV000437381]	benign\|likely benign	13	39687569	39687569	Human	2	alternate_id
12846601	CV372827	single nucleotide variant	NM_020751.3(COG6):c.1963C>A (p.Leu655Ile)	COG6-congenital disorder of glycosylation [RCV000864223]\|not provided [RCV004707243]\|not specified [RCV000441964]	benign	13	39751082	39751082	Human	2	alternate_id
12847281	CV373538	single nucleotide variant	NM_020751.3(COG6):c.153+19G>A	COG6-congenital disorder of glycosylation [RCV002062707]\|not provided [RCV001697836]	benign\|likely benign	13	39655898	39655898	Human	2	alternate_id
12841460	CV373837	single nucleotide variant	NM_020751.3(COG6):c.370-18A>G	COG6-congenital disorder of glycosylation [RCV003766309]\|not specified [RCV000432630]	likely benign	13	39665078	39665078	Human	2	alternate_id
12833115	CV373841	single nucleotide variant	NM_020751.3(COG6):c.1233A>G (p.Lys411=)	COG6-congenital disorder of glycosylation [RCV000929048]\|not specified [RCV000417905]	likely benign	13	39699567	39699567	Human	2	alternate_id
597892410	CV3867985	single nucleotide variant	NM_020751.3(COG6):c.917+19A>G	COG6-congenital disorder of glycosylation [RCV005219013]	likely benign	13	39687650	39687650	Human	2	alternate_id
597895024	CV3868724	single nucleotide variant	NM_020751.3(COG6):c.695-20T>C	COG6-congenital disorder of glycosylation [RCV005219430]	likely benign	13	39682151	39682151	Human	2	alternate_id
597868238	CV3869417	single nucleotide variant	NM_020751.3(COG6):c.428+18C>T	COG6-congenital disorder of glycosylation [RCV005215348]	likely benign	13	39665172	39665172	Human	2	alternate_id
597869550	CV3869574	single nucleotide variant	NM_020751.3(COG6):c.285G>A (p.Lys95=)	COG6-congenital disorder of glycosylation [RCV005215505]	likely benign	13	39659495	39659495	Human	2	alternate_id
597877026	CV3871529	single nucleotide variant	NM_020751.3(COG6):c.1746+14A>G	COG6-congenital disorder of glycosylation [RCV005216745]	likely benign	13	39724575	39724575	Human	2	alternate_id
597847255	CV3872669	single nucleotide variant	NM_020751.3(COG6):c.429-13T>C	COG6-congenital disorder of glycosylation [RCV005212305]	likely benign	13	39677455	39677455	Human	2	alternate_id
597875909	CV3874987	single nucleotide variant	NM_020751.3(COG6):c.1026T>G (p.Ile342Met)	COG6-congenital disorder of glycosylation [RCV005216463]	uncertain significance	13	39689776	39689776	Human	2	alternate_id
597862658	CV3875255	single nucleotide variant	NM_020751.3(COG6):c.1285-10C>T	COG6-congenital disorder of glycosylation [RCV005214432]	likely benign	13	39719226	39719226	Human	2	alternate_id
597852010	CV3877158	single nucleotide variant	NM_020751.3(COG6):c.924A>G (p.Val308=)	COG6-congenital disorder of glycosylation [RCV005228387]	likely benign	13	39687714	39687714	Human	2	alternate_id
597859639	CV3878068	single nucleotide variant	NM_020751.3(COG6):c.585T>C (p.Asp195=)	COG6-congenital disorder of glycosylation [RCV005229378]	likely benign	13	39679582	39679582	Human	2	alternate_id
597916257	CV3879104	single nucleotide variant	NM_020751.3(COG6):c.153+15C>T	COG6-congenital disorder of glycosylation [RCV005222640]	likely benign	13	39655894	39655894	Human	2	alternate_id
597914892	CV3880198	duplication	NM_020751.3(COG6):c.369+23dup	COG6-congenital disorder of glycosylation [RCV005222438]	benign	13	39660900	39660901	Human	2	alternate_id
13212085	CV426044	single nucleotide variant	NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)	COG6-congenital disorder of glycosylation [RCV000763333]\|COG6-congenital disorder of glycosylation [RCV001824809]\|not provided [RCV000498315]	pathogenic\|likely pathogenic	13	39719778	39719778	Human	2	alternate_id
13488588	CV445152	single nucleotide variant	NM_020751.3(COG6):c.697G>A (p.Glu233Lys)	COG6-congenital disorder of glycosylation [RCV002528278]\|not provided [RCV000523613]	uncertain significance	13	39682173	39682173	Human	2	alternate_id
13481355	CV463273	single nucleotide variant	NM_020751.3(COG6):c.65A>G (p.Asn22Ser)	COG6-congenital disorder of glycosylation [RCV000528926]\|COG6-related disorder [RCV004538062]\|Inborn genetic diseases [RCV004975680]\|not provided [RCV004705666]	likely benign	13	39655791	39655791	Human	3	alternate_id
13508793	CV485963	single nucleotide variant	NM_020751.3(COG6):c.511C>T (p.Arg171Ter)	COG6-congenital disorder of glycosylation [RCV000584833]\|COG6-congenital disorder of glycosylation [RCV001853951]\|not provided [RCV002065124]	pathogenic	13	39677550	39677550	Human	2	alternate_id
13538030	CV504270	single nucleotide variant	NM_020751.3(COG6):c.1308T>G (p.Leu436=)	COG6-congenital disorder of glycosylation [RCV000872373]\|not specified [RCV000611242]	benign\|likely benign	13	39719259	39719259	Human	2	alternate_id
13537724	CV505179	single nucleotide variant	NM_020751.3(COG6):c.153+11C>A	COG6-congenital disorder of glycosylation [RCV003767497]\|not specified [RCV000610795]	likely benign	13	39655890	39655890	Human	2	alternate_id
13622938	CV527728	single nucleotide variant	NM_020751.3(COG6):c.1760G>A (p.Arg587His)	COG6-congenital disorder of glycosylation [RCV000650372]\|COG6-congenital disorder of glycosylation [RCV001114636]\|Inborn genetic diseases [RCV004025805]	uncertain significance	13	39727482	39727482	Human	3	alternate_id
13622937	CV527763	deletion	NM_020751.3(COG6):c.1693-8_1693-6del	COG6-congenital disorder of glycosylation [RCV000650375]\|COG6-related disorder [RCV004533401]	benign	13	39724500	39724502	Human	2	alternate_id
13622936	CV528269	single nucleotide variant	NM_020751.3(COG6):c.123G>A (p.Lys41=)	COG6-congenital disorder of glycosylation [RCV001414866]	likely benign	13	39655849	39655849	Human	2	alternate_id
13822051	CV566119	single nucleotide variant	NM_020751.3(COG6):c.730G>A (p.Val244Ile)	COG6-congenital disorder of glycosylation [RCV000696749]\|not provided [RCV001592889]	uncertain significance	13	39682206	39682206	Human	2	alternate_id
13817683	CV567579	single nucleotide variant	NM_020751.3(COG6):c.1961C>T (p.Thr654Met)	COG6-congenital disorder of glycosylation [RCV000693190]	uncertain significance	13	39751080	39751080	Human	2	alternate_id
14712213	CV641939	single nucleotide variant	NM_020751.3(COG6):c.134C>T (p.Thr45Met)	COG6-congenital disorder of glycosylation [RCV000793730]\|Inborn genetic diseases [RCV005318525]\|not provided [RCV004768655]	uncertain significance	13	39655860	39655860	Human	3	alternate_id
14735015	CV641940	single nucleotide variant	NM_020751.3(COG6):c.1910A>C (p.Glu637Ala)	COG6-congenital disorder of glycosylation [RCV000802977]	uncertain significance	13	39751029	39751029	Human	2	alternate_id
15140244	CV688170	single nucleotide variant	NM_020751.3(COG6):c.358A>G (p.Ser120Gly)	COG6-congenital disorder of glycosylation [RCV000865144]\|COG6-congenital disorder of glycosylation [RCV000989103]\|COG6-related disorder [RCV004538230]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	13	39660870	39660870	Human	2	alternate_id
15148243	CV693377	single nucleotide variant	NM_020751.3(COG6):c.261T>C (p.Asn87=)	COG6-congenital disorder of glycosylation [RCV002539274]	likely benign	13	39659471	39659471	Human	2	alternate_id
15134611	CV693378	single nucleotide variant	NM_020751.3(COG6):c.1533A>T (p.Thr511=)	COG6-congenital disorder of glycosylation [RCV002064854]	likely benign	13	39719776	39719776	Human	2	alternate_id
15111749	CV695598	single nucleotide variant	NM_020751.3(COG6):c.1693-7T>A	COG6-congenital disorder of glycosylation [RCV000872384]\|COG6-congenital disorder of glycosylation [RCV001113267]	likely benign\|uncertain significance	13	39724501	39724501	Human	2	alternate_id
15190655	CV702685	single nucleotide variant	NM_020751.3(COG6):c.1645G>T (p.Gly549Cys)	COG6-congenital disorder of glycosylation [RCV000954541]\|COG6-congenital disorder of glycosylation [RCV003147568]\|not provided [RCV002508272]	likely benign\|uncertain significance	13	39723393	39723393	Human	2	alternate_id
15194982	CV730919	single nucleotide variant	NM_020751.3(COG6):c.1827-4A>G	COG6-congenital disorder of glycosylation [RCV000889370]\|COG6-congenital disorder of glycosylation [RCV001114638]	benign\|uncertain significance	13	39750942	39750942	Human	2	alternate_id
15145783	CV753842	single nucleotide variant	NM_020751.3(COG6):c.336C>T (p.Ser112=)	COG6-congenital disorder of glycosylation [RCV002065978]	likely benign	13	39660848	39660848	Human	2	alternate_id
15114978	CV753843	single nucleotide variant	NM_020751.3(COG6):c.1140C>T (p.Leu380=)	COG6-congenital disorder of glycosylation [RCV002065905]	likely benign	13	39694699	39694699	Human	2	alternate_id
15132923	CV769559	single nucleotide variant	NM_020751.3(COG6):c.84G>C (p.Ser28=)	COG6-congenital disorder of glycosylation [RCV001411799]	likely benign	13	39655810	39655810	Human	2	alternate_id
15184163	CV769560	single nucleotide variant	NM_020751.3(COG6):c.303T>C (p.Leu101=)	COG6-congenital disorder of glycosylation [RCV000930747]	likely benign	13	39660815	39660815	Human	2	alternate_id
15133376	CV769561	single nucleotide variant	NM_020751.3(COG6):c.1368C>T (p.His456=)	COG6-congenital disorder of glycosylation [RCV000942557]	likely benign	13	39719319	39719319	Human	2	alternate_id
15132471	CV784600	single nucleotide variant	NM_020751.3(COG6):c.1071A>G (p.Leu357=)	COG6-congenital disorder of glycosylation [RCV000981388]	likely benign	13	39689821	39689821	Human	2	alternate_id
26884543	CV840886	single nucleotide variant	NM_020751.3(COG6):c.155A>G (p.Glu52Gly)	COG6-congenital disorder of glycosylation [RCV001043015]	uncertain significance	13	39659365	39659365	Human	2	alternate_id
26922915	CV840887	single nucleotide variant	NM_020751.3(COG6):c.851C>T (p.Ala284Val)	COG6-congenital disorder of glycosylation [RCV001062975]	uncertain significance	13	39687565	39687565	Human	2	alternate_id
26923644	CV840888	single nucleotide variant	NM_020751.3(COG6):c.868C>T (p.Pro290Ser)	COG6-congenital disorder of glycosylation [RCV001064381]	uncertain significance	13	39687582	39687582	Human	2	alternate_id
26913799	CV840889	single nucleotide variant	NM_020751.3(COG6):c.1247A>G (p.Asn416Ser)	COG6-congenital disorder of glycosylation [RCV001040252]\|Inborn genetic diseases [RCV002553067]	uncertain significance	13	39699581	39699581	Human	3	alternate_id
26906590	CV840890	single nucleotide variant	NM_020751.3(COG6):c.1415A>G (p.Gln472Arg)	COG6-congenital disorder of glycosylation [RCV001037540]\|Inborn genetic diseases [RCV003160225]\|not provided [RCV004590036]	uncertain significance	13	39719366	39719366	Human	3	alternate_id
28911850	CV871295	single nucleotide variant	NM_020751.3(COG6):c.1263T>C (p.His421=)	COG6-congenital disorder of glycosylation [RCV001111261]\|COG6-congenital disorder of glycosylation [RCV002069796]	likely benign\|uncertain significance	13	39699597	39699597	Human	2	alternate_id
28872607	CV871298	single nucleotide variant	NM_020751.3(COG6):c.1891G>A (p.Val631Met)	COG6-congenital disorder of glycosylation [RCV001114639]\|COG6-congenital disorder of glycosylation [RCV002556244]\|Inborn genetic diseases [RCV003246698]	uncertain significance	13	39751010	39751010	Human	3	alternate_id
126759295	CV995594	single nucleotide variant	NM_020751.3(COG6):c.9G>C (p.Glu3Asp)	COG6-congenital disorder of glycosylation [RCV001308977]	uncertain significance	13	39655735	39655735	Human	2	alternate_id
126726264	CV995595	single nucleotide variant	NM_020751.3(COG6):c.556C>A (p.Leu186Met)	COG6-congenital disorder of glycosylation [RCV001302834]\|Inborn genetic diseases [RCV004978274]	uncertain significance	13	39679553	39679553	Human	3	alternate_id
126726213	CV995596	single nucleotide variant	NM_020751.3(COG6):c.920A>G (p.Tyr307Cys)	COG6-congenital disorder of glycosylation [RCV001302821]	uncertain significance	13	39687710	39687710	Human	2	alternate_id
126733428	CV995597	single nucleotide variant	NM_020751.3(COG6):c.1738G>A (p.Ala580Thr)	COG6-congenital disorder of glycosylation [RCV001294737]	uncertain significance	13	39724553	39724553	Human	2	alternate_id
127297254	CV1154791	single nucleotide variant	NM_002448.3(MSX1):c.348C>T (p.Gly116=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001512803]\|not provided [RCV001692402]	benign	4	4860247	4860247	Human	1	trait
127290606	CV1154792	microsatellite	NM_002448.3(MSX1):c.469+46_469+56del	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001509904]\|not provided [RCV001655737]	benign	4	4860399	4860409	Human		trait
127298160	CV1154793	single nucleotide variant	NM_002448.3(MSX1):c.*6C>T	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001513161]\|not provided [RCV001724325]	benign	4	4863149	4863149	Human	1	trait
151817986	CV1390473	single nucleotide variant	NM_002448.3(MSX1):c.544G>A (p.Ala182Thr)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001954469]\|not provided [RCV005232719]	uncertain significance	4	4862775	4862775	Human	1	trait
151769800	CV1482897	single nucleotide variant	NM_002448.3(MSX1):c.782C>G (p.Ala261Gly)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001914874]\|not provided [RCV004693854]	uncertain significance	4	4863013	4863013	Human	1	trait
401916598	CV2831195	single nucleotide variant	NM_002448.3(MSX1):c.787G>C (p.Val263Leu)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003778487]\|not provided [RCV003443464]	uncertain significance	4	4863018	4863018	Human	1	trait
13496404	CV453457	single nucleotide variant	NM_002448.3(MSX1):c.86C>T (p.Ala29Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000537833]\|not provided [RCV001618724]	benign	4	4859985	4859985	Human	1	trait
13621020	CV520201	single nucleotide variant	NM_002448.3(MSX1):c.*276A>G	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000636825]\|not provided [RCV001539465]	benign	4	4863419	4863419	Human	1	trait
21071288	CV790475	single nucleotide variant	NM_002448.3(MSX1):c.119C>G (p.Ala40Gly)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000987402]\|not provided [RCV001664589]	benign	4	4860018	4860018	Human	1	trait
126770549	CV1005300	single nucleotide variant	NM_002448.3(MSX1):c.623C>G (p.Ser208Trp)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001322640]\|MSX1-related disorder [RCV004531112]	uncertain significance	4	4862854	4862854	Human	1	trait
150458009	CV1207308	single nucleotide variant	NM_020751.3(COG6):c.297+47C>T	COG6-congenital disorder of glycosylation [RCV001582431]\|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [RCV001582432]\|not provided [RCV001655919]	benign	13	39659554	39659554	Human	2	trait
9850347	CV181437	single nucleotide variant	NM_020751.3(COG6):c.1167-24A>G	COG6-congenital disorder of glycosylation [RCV001251035]\|COG6-related disorder [RCV000985030]\|Hypohidrosis [RCV000162165]\|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [RCV000050228]\|not provided [RCV000322754]	pathogenic\|likely pathogenic	13	39699477	39699477	Human	6	trait
156403889	CV1898047	single nucleotide variant	NM_001012614.2(CTBP1):c.679G>A (p.Gly227Ser)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003143497]\|Inborn genetic diseases [RCV002610331]\|not provided [RCV002585299]	likely benign\|uncertain significance	4	1216041	1216041	Human	2	trait
155935733	CV2138823	single nucleotide variant	NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV002993706]\|Tooth agenesis, selective, 1 [RCV004794601]\|not provided [RCV003332395]	likely pathogenic\|uncertain significance	4	4862886	4862886	Human	2	trait
12907396	CV227271	single nucleotide variant	NM_002448.3(MSX1):c.471G>T (p.Arg157Ser)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000950563]\|MSX1-related disorder [RCV004541305]\|Orofacial cleft 5 [RCV000490415]	benign\|likely benign\|uncertain significance	4	4862702	4862702	Human	3	trait
11087902	CV227573	single nucleotide variant	NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV000595812]\|Inborn genetic diseases [RCV000624918]\|not provided [RCV000211044]	pathogenic	4	1213028	1213028	Human	2	trait
243057040	CV2414955	single nucleotide variant	NM_001012614.2(CTBP1):c.1246G>A (p.Val416Ile)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003145897]\|not provided [RCV003457210]	uncertain significance	4	1212284	1212284	Human	1	trait
243057042	CV2414956	single nucleotide variant	NM_001012614.2(CTBP1):c.411G>C (p.Gln137His)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003145898]\|not provided [RCV003434705]	uncertain significance	4	1225463	1225463	Human	1	trait
329399781	CV2467645	single nucleotide variant	NM_001012614.2(CTBP1):c.1195G>A (p.Gly399Ser)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome [RCV003988889]\|Inborn genetic diseases [RCV003221108]	uncertain significance	4	1212335	1212335	Human	2	trait
405032869	CV2909325	single nucleotide variant	NM_002448.3(MSX1):c.519T>C (p.Arg173=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003516965]\|MSX1-related disorder [RCV004540722]	likely benign	4	4862750	4862750	Human	1	trait
8600000	CV29921	single nucleotide variant	NM_002448.3(MSX1):c.623C>A (p.Ser208Ter)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000016011]\|MSX1-related disorder [RCV004532364]	pathogenic	4	4862854	4862854	Human	1	trait
8600001	CV29922	single nucleotide variant	NM_002448.3(MSX1):c.251A>T (p.Glu84Val)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001851883]\|Orofacial cleft 5 [RCV000016012]	pathogenic\|uncertain significance	4	4860150	4860150	Human	2	trait
8600003	CV29924	single nucleotide variant	NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001448310]\|Orofacial cleft 5 [RCV000016014]\|not provided [RCV001528695]	pathogenic\|likely benign\|uncertain significance	4	4860357	4860357	Human	2	trait
13494340	CV453560	single nucleotide variant	NM_002448.3(MSX1):c.561G>A (p.Leu187=)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000536344]\|MSX1-related disorder [RCV004537942]\|not provided [RCV004716527]	benign\|likely benign	4	4862792	4862792	Human	1	trait
13508789	CV485964	single nucleotide variant	NM_020751.3(COG6):c.1746+2T>G	COG6-congenital disorder of glycosylation [RCV000584831]\|Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome [RCV000662023]	pathogenic\|uncertain significance	13	39724563	39724563	Human	2	trait
21069233	CV679661	single nucleotide variant	NM_002448.3(MSX1):c.817G>A (p.Gly273Ser)	Craniosynostosis syndrome [RCV000985272]\|Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV003629142]	uncertain significance	4	4863048	4863048	Human	3	trait
15183122	CV698533	single nucleotide variant	NM_002448.3(MSX1):c.65G>A (p.Gly22Asp)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000952390]\|MSX1-related disorder [RCV004738102]	likely benign	4	4859964	4859964	Human	1	trait
15146471	CV781960	single nucleotide variant	NM_002448.3(MSX1):c.151A>G (p.Lys51Glu)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV000983862]\|MSX1-related disorder [RCV004543665]	benign	4	4860050	4860050	Human	1	trait
26905299	CV829192	deletion	NM_002448.3(MSX1):c.682_683del (p.Lys228fs)	Hypoplastic enamel-onycholysis-hypohidrosis syndrome [RCV001036941]\|Tooth agenesis, selective, 1 [RCV002222195]	uncertain significance	4	4862912	4862913	Human	2	trait

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