Wdr19 Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11552536	CV251473	single nucleotide variant	NM_025132.4(WDR19):c.-9A>G	Asphyxiating thoracic dystrophy 5 [RCV000296000]\|Cranioectodermal dysplasia 4 [RCV000350886]\|Nephronophthisis 13 [RCV002244679]\|Senior-Loken syndrome 8 [RCV002244680]\|not provided [RCV001668589]\|not specified [RCV000254521]	benign\|likely benign	4	39182549	39182549	Human	4	name
127279483	CV1071635	single nucleotide variant	NM_025132.4(WDR19):c.6+9C>T	Asphyxiating thoracic dystrophy 5 [RCV001409158]	likely benign	4	39182572	39182572	Human	1	name
151863880	CV1360984	single nucleotide variant	NM_025132.4(WDR19):c.6+3A>G	Asphyxiating thoracic dystrophy 5 [RCV001905657]\|Asphyxiating thoracic dystrophy 5 [RCV002482670]	uncertain significance	4	39182566	39182566	Human	1	name
151763901	CV1462202	single nucleotide variant	NM_025132.4(WDR19):c.7-5T>G	Asphyxiating thoracic dystrophy 5 [RCV001970496]	uncertain significance	4	39185721	39185721	Human	1	name
156231517	CV2173045	deletion	NM_025132.4(WDR19):c.7-9del	Asphyxiating thoracic dystrophy 5 [RCV003059323]	likely benign	4	39185717	39185717	Human	1	name
11590223	CV294760	single nucleotide variant	NM_025132.4(WDR19):c.-15G>T	Asphyxiating thoracic dystrophy 5 [RCV000371600]\|Cranioectodermal dysplasia 4 [RCV000316935]\|not provided [RCV001726138]\|not specified [RCV001699999]	benign\|likely benign\|uncertain significance	4	39182543	39182543	Human	2	name
11644762	CV298349	duplication	NM_025132.3(WDR19):c.-59dup	Cranioectodermal dysplasia [RCV000261825]\|Jeune thoracic dystrophy [RCV000375119]	uncertain significance	4	39182497	39182498	Human	2	name
11587066	CV298350	single nucleotide variant	NM_025132.4(WDR19):c.6+5A>G	Asphyxiating thoracic dystrophy 5 [RCV000386870]\|Asphyxiating thoracic dystrophy 5 [RCV002057925]\|Cranioectodermal dysplasia 4 [RCV000292560]	likely benign\|uncertain significance	4	39182568	39182568	Human	2	name
405006391	CV3082830	single nucleotide variant	NM_025132.4(WDR19):c.7-7T>A	Asphyxiating thoracic dystrophy 5 [RCV003783931]	likely benign	4	39185719	39185719	Human	1	name
597854508	CV3870495	single nucleotide variant	NM_025132.4(WDR19):c.7-5T>C	Asphyxiating thoracic dystrophy 5 [RCV005228696]	likely benign	4	39185721	39185721	Human	1	name
28905013	CV890650	single nucleotide variant	NM_025132.4(WDR19):c.*83G>C	Asphyxiating thoracic dystrophy 5 [RCV001144717]\|Cranioectodermal dysplasia 4 [RCV001144716]	uncertain significance	4	39285556	39285556	Human	2	name
156209391	CV2042481	single nucleotide variant	NM_025132.4(WDR19):c.6+11T>A	Asphyxiating thoracic dystrophy 5 [RCV002766537]	likely benign	4	39182574	39182574	Human	1	name
156307057	CV2079859	single nucleotide variant	NM_025132.4(WDR19):c.6+16A>G	Asphyxiating thoracic dystrophy 5 [RCV002857458]	likely benign	4	39182579	39182579	Human	1	name
329951715	CV2671346	single nucleotide variant	NM_025132.4(WDR19):c.98+5G>T	Cranioectodermal dysplasia 4 [RCV003234978]	uncertain significance	4	39185822	39185822	Human	1	name
11651350	CV293411	single nucleotide variant	NM_025132.4(WDR19):c.*131C>T	Asphyxiating thoracic dystrophy 5 [RCV000369280]\|Cranioectodermal dysplasia 4 [RCV000298217]	uncertain significance	4	39285604	39285604	Human	2	name
11584868	CV293413	single nucleotide variant	NM_025132.4(WDR19):c.*152G>A	Asphyxiating thoracic dystrophy 5 [RCV000277096]\|Cranioectodermal dysplasia 4 [RCV000311199]	uncertain significance	4	39285625	39285625	Human	2	name
11646577	CV298437	single nucleotide variant	NM_025132.4(WDR19):c.*184T>G	Asphyxiating thoracic dystrophy 5 [RCV000271820]\|Cranioectodermal dysplasia 4 [RCV000368219]	uncertain significance	4	39285657	39285657	Human	2	name
11591437	CV298475	single nucleotide variant	NM_025132.4(WDR19):c.*229C>T	Asphyxiating thoracic dystrophy 5 [RCV000381413]\|Cranioectodermal dysplasia 4 [RCV000329164]\|not provided [RCV004716223]	benign	4	39285702	39285702	Human	2	name
404984103	CV3096418	single nucleotide variant	NM_025132.4(WDR19):c.6+20C>T	Asphyxiating thoracic dystrophy 5 [RCV003791967]	likely benign	4	39182583	39182583	Human	1	name
597655125	CV3721427	single nucleotide variant	NM_025132.4(WDR19):c.98+1G>A	Asphyxiating thoracic dystrophy 5 [RCV005027331]	likely pathogenic	4	39185818	39185818	Human	1	name
597852276	CV3869652	single nucleotide variant	NM_025132.4(WDR19):c.6+17T>C	Asphyxiating thoracic dystrophy 5 [RCV005212936]	likely benign	4	39182580	39182580	Human	1	name
597889751	CV3871240	single nucleotide variant	NM_025132.4(WDR19):c.7-20A>C	Asphyxiating thoracic dystrophy 5 [RCV005218572]	likely benign	4	39185706	39185706	Human	1	name
28873273	CV890651	single nucleotide variant	NM_025132.4(WDR19):c.*106T>G	Asphyxiating thoracic dystrophy 5 [RCV001146676]\|Cranioectodermal dysplasia 4 [RCV001144718]	uncertain significance	4	39285579	39285579	Human	2	name
28873275	CV890652	single nucleotide variant	NM_025132.4(WDR19):c.*124T>G	Asphyxiating thoracic dystrophy 5 [RCV001146678]\|Cranioectodermal dysplasia 4 [RCV001146677]	uncertain significance	4	39285597	39285597	Human	2	name
28875282	CV890653	single nucleotide variant	NM_025132.4(WDR19):c.*296T>G	Asphyxiating thoracic dystrophy 5 [RCV001147584]\|Cranioectodermal dysplasia 4 [RCV001147583]	uncertain significance	4	39285769	39285769	Human	2	name
127251642	CV1071636	single nucleotide variant	NM_025132.4(WDR19):c.98+14G>T	Asphyxiating thoracic dystrophy 5 [RCV001400158]	likely benign	4	39185831	39185831	Human	1	name
150333959	CV1169042	single nucleotide variant	NM_025132.4(WDR19):c.7-196G>C	not provided [RCV001537552]	benign	4	39185530	39185530	Human		name
150331247	CV1169043	single nucleotide variant	NM_025132.4(WDR19):c.98+85G>T	not provided [RCV001536399]	benign	4	39185902	39185902	Human		name
150484382	CV1250008	deletion	NM_025132.4(WDR19):c.98+85del	not provided [RCV001673621]	benign	4	39185902	39185902	Human		name
151789840	CV1389027	single nucleotide variant	NM_025132.4(WDR19):c.717-1G>C	Asphyxiating thoracic dystrophy 5 [RCV002010585]	likely pathogenic	4	39205562	39205562	Human	1	name
151764359	CV1403139	single nucleotide variant	NM_025132.4(WDR19):c.716+4T>A	Asphyxiating thoracic dystrophy 5 [RCV001914348]	uncertain significance	4	39205270	39205270	Human	1	name
151721743	CV1419724	single nucleotide variant	NM_025132.4(WDR19):c.165-6T>A	Asphyxiating thoracic dystrophy 5 [RCV001983188]	likely benign\|uncertain significance	4	39189650	39189650	Human	1	name
151847107	CV1514872	single nucleotide variant	NM_025132.4(WDR19):c.890+1G>T	Asphyxiating thoracic dystrophy 5 [RCV001978430]	likely pathogenic	4	39205737	39205737	Human	1	name
152029541	CV1568325	single nucleotide variant	NM_025132.4(WDR19):c.99-12G>C	Asphyxiating thoracic dystrophy 5 [RCV002105621]	likely benign	4	39186527	39186527	Human	1	name
152149962	CV1603949	single nucleotide variant	NM_025132.4(WDR19):c.99-11A>C	Asphyxiating thoracic dystrophy 5 [RCV002220652]\|Asphyxiating thoracic dystrophy 5 [RCV002498244]	likely benign	4	39186528	39186528	Human	1	name
10042835	CV187262	single nucleotide variant	NM_025132.4(WDR19):c.407-2A>G	Senior-Loken syndrome 8 [RCV000169777]	pathogenic\|not provided	4	39199476	39199476	Human	1	name
156354975	CV1921070	single nucleotide variant	NM_025132.4(WDR19):c.522+8A>G	Asphyxiating thoracic dystrophy 5 [RCV002632261]	uncertain significance	4	39199601	39199601	Human	1	name
156129680	CV2084803	single nucleotide variant	NM_025132.4(WDR19):c.99-16T>A	Asphyxiating thoracic dystrophy 5 [RCV002871587]	likely benign	4	39186523	39186523	Human	1	name
156262879	CV2095506	duplication	NM_025132.4(WDR19):c.165-6dup	Asphyxiating thoracic dystrophy 5 [RCV002895647]	benign	4	39189644	39189645	Human	1	name
156017401	CV2121485	single nucleotide variant	NM_025132.4(WDR19):c.522+7C>T	Asphyxiating thoracic dystrophy 5 [RCV002948606]	likely benign	4	39199600	39199600	Human	1	name
156162812	CV2191950	single nucleotide variant	NM_025132.4(WDR19):c.891-5T>C	Asphyxiating thoracic dystrophy 5 [RCV003040772]	likely benign	4	39214596	39214596	Human	1	name
11592326	CV293407	single nucleotide variant	NM_025132.4(WDR19):c.13+15G>A	Asphyxiating thoracic dystrophy 5 [RCV000400082]\|Asphyxiating thoracic dystrophy 5 [RCV002502343]\|Cranioectodermal dysplasia 4 [RCV000337790]	benign\|likely benign\|uncertain significance	4	39278678	39278678	Human	2	name
11589060	CV298351	single nucleotide variant	NM_025132.4(WDR19):c.523-3T>C	Asphyxiating thoracic dystrophy 5 [RCV000308025]\|Asphyxiating thoracic dystrophy 5 [RCV000531768]\|Cranioectodermal dysplasia 4 [RCV000344185]\|WDR19-related disorder [RCV004544650]\|not provided [RCV001700077]	likely benign\|uncertain significance	4	39203639	39203639	Human	3	name , alternate_id
11588006	CV298434	single nucleotide variant	NM_025132.4(WDR19):c.13+14C>T	Asphyxiating thoracic dystrophy 5 [RCV000299324]\|Cranioectodermal dysplasia 4 [RCV000393341]	uncertain significance	4	39278677	39278677	Human	2	name
405032295	CV3082969	single nucleotide variant	NM_025132.4(WDR19):c.716+1G>C	Asphyxiating thoracic dystrophy 5 [RCV003786262]	likely pathogenic	4	39205267	39205267	Human	1	name
404978726	CV3099096	single nucleotide variant	NM_025132.4(WDR19):c.717-4A>G	Asphyxiating thoracic dystrophy 5 [RCV003791076]	likely benign	4	39205559	39205559	Human	1	name
404979883	CV3099495	single nucleotide variant	NM_025132.4(WDR19):c.962-7A>G	Asphyxiating thoracic dystrophy 5 [RCV003791323]	likely benign	4	39215834	39215834	Human	1	name
405855022	CV3395548	single nucleotide variant	NM_025132.4(WDR19):c.716+2T>C	Nephronophthisis 13 [RCV004555796]	likely pathogenic	4	39205268	39205268	Human	1	name
597655205	CV3721436	single nucleotide variant	NM_025132.4(WDR19):c.291-2A>G	Asphyxiating thoracic dystrophy 5 [RCV005027339]	likely pathogenic	4	39194542	39194542	Human	1	name
597655235	CV3721439	single nucleotide variant	NM_025132.4(WDR19):c.406+1G>T	Asphyxiating thoracic dystrophy 5 [RCV005027342]	likely pathogenic	4	39194660	39194660	Human	1	name
597655263	CV3721443	single nucleotide variant	NM_025132.4(WDR19):c.523-1G>C	Asphyxiating thoracic dystrophy 5 [RCV005027345]	likely pathogenic	4	39203641	39203641	Human	1	name
597655302	CV3721447	single nucleotide variant	NM_025132.4(WDR19):c.717-1G>A	Asphyxiating thoracic dystrophy 5 [RCV005027349]	likely pathogenic	4	39205562	39205562	Human	1	name
597861455	CV3865348	single nucleotide variant	NM_025132.4(WDR19):c.99-11A>G	Asphyxiating thoracic dystrophy 5 [RCV005214242]	likely benign	4	39186528	39186528	Human	1	name
597871005	CV3869997	single nucleotide variant	NM_025132.4(WDR19):c.603+9T>G	Asphyxiating thoracic dystrophy 5 [RCV005215727]	likely benign	4	39203731	39203731	Human	1	name
598127821	CV3882904	single nucleotide variant	NM_025132.4(WDR19):c.961+7A>C	not provided [RCV005234436]	likely benign	4	39214678	39214678	Human		name
598204949	CV3896758	single nucleotide variant	NM_025132.4(WDR19):c.290+1G>T	Asphyxiating thoracic dystrophy 5 [RCV005356941]	likely pathogenic	4	39189782	39189782	Human	1	name
15189815	CV730288	single nucleotide variant	NM_025132.4(WDR19):c.522+9G>A	Asphyxiating thoracic dystrophy 5 [RCV000887927]	likely benign	4	39199602	39199602	Human	1	name
15200581	CV774948	single nucleotide variant	NM_025132.4(WDR19):c.98+10C>T	Asphyxiating thoracic dystrophy 5 [RCV001472430]	likely benign	4	39185827	39185827	Human	1	name
15178513	CV775076	single nucleotide variant	NM_025132.4(WDR19):c.891-9G>C	Asphyxiating thoracic dystrophy 5 [RCV000929415]	likely benign	4	39214592	39214592	Human	1	name
26885271	CV851502	single nucleotide variant	NM_025132.4(WDR19):c.961+2T>C	Asphyxiating thoracic dystrophy 5 [RCV001043448]\|Asphyxiating thoracic dystrophy 5 [RCV002481903]	likely pathogenic	4	39214673	39214673	Human	1	name
26910005	CV857200	single nucleotide variant	NM_025132.4(WDR19):c.291-9A>G	Retinal dystrophy [RCV001074267]	uncertain significance	4	39194535	39194535	Human	2	name
38457316	CV939966	deletion	NM_025132.4(WDR19):c.716+2del	Asphyxiating thoracic dystrophy 5 [RCV001211083]	likely pathogenic	4	39205268	39205268	Human	1	name
38461644	CV959725	single nucleotide variant	NM_025132.4(WDR19):c.603+3A>G	Asphyxiating thoracic dystrophy 5 [RCV001229575]	uncertain significance	4	39203725	39203725	Human	1	name
126736812	CV1005261	single nucleotide variant	NM_025132.4(WDR19):c.2421+5C>A	Asphyxiating thoracic dystrophy 5 [RCV001324716]\|Asphyxiating thoracic dystrophy 5 [RCV005038078]	uncertain significance	4	39240339	39240339	Human	1	name
126738141	CV1005268	single nucleotide variant	NM_025132.4(WDR19):c.3565+4A>C	Asphyxiating thoracic dystrophy 5 [RCV001324887]	uncertain significance	4	39273065	39273065	Human	1	name
126743123	CV1019977	single nucleotide variant	NM_025132.4(WDR19):c.3184-2A>C	Asphyxiating thoracic dystrophy 5 [RCV001970776]\|Asphyxiating thoracic dystrophy 5 [RCV005032046]\|Renal dysplasia and retinal aplasia [RCV003324579]\|not provided [RCV004820226]	pathogenic\|likely pathogenic	4	39266061	39266061	Human	2	name
126915666	CV1042766	single nucleotide variant	NM_025132.4(WDR19):c.3001+3A>G	Asphyxiating thoracic dystrophy 5 [RCV001371050]	uncertain significance	4	39254033	39254033	Human	1	name
127243044	CV1055430	single nucleotide variant	NM_025132.4(WDR19):c.1357-2A>T	Asphyxiating thoracic dystrophy 5 [RCV001377034]	likely pathogenic	4	39217981	39217981	Human	1	name
127254322	CV1055431	single nucleotide variant	NM_025132.4(WDR19):c.1479+2T>C	Asphyxiating thoracic dystrophy 5 [RCV001379131]	likely pathogenic	4	39218107	39218107	Human	1	name
127255922	CV1055432	single nucleotide variant	NM_025132.4(WDR19):c.3262-2A>G	Asphyxiating thoracic dystrophy 5 [RCV001379466]	likely pathogenic	4	39267993	39267993	Human	1	name
127258618	CV1071638	single nucleotide variant	NM_025132.4(WDR19):c.890+10T>A	Asphyxiating thoracic dystrophy 5 [RCV001419589]	likely benign	4	39205746	39205746	Human	1	name
127249193	CV1071639	single nucleotide variant	NM_025132.4(WDR19):c.1249+9A>C	Asphyxiating thoracic dystrophy 5 [RCV001417281]	likely benign	4	39216219	39216219	Human	1	name
127257606	CV1071640	single nucleotide variant	NM_025132.4(WDR19):c.1357-8C>T	Asphyxiating thoracic dystrophy 5 [RCV001401506]\|Asphyxiating thoracic dystrophy 5 [RCV002499851]	likely benign	4	39217975	39217975	Human	1	name
127273931	CV1093276	single nucleotide variant	NM_025132.4(WDR19):c.2646-5T>C	Asphyxiating thoracic dystrophy 5 [RCV001442749]\|Asphyxiating thoracic dystrophy 5 [RCV002501560]	likely benign	4	39245364	39245364	Human	1	name
127238219	CV1093279	single nucleotide variant	NM_025132.4(WDR19):c.3358+8C>T	Asphyxiating thoracic dystrophy 5 [RCV001433716]	likely benign	4	39268099	39268099	Human	1	name
127297436	CV1114803	single nucleotide variant	NM_025132.4(WDR19):c.523-19G>A	Asphyxiating thoracic dystrophy 5 [RCV001477602]	likely benign	4	39203623	39203623	Human	1	name
127314094	CV1154785	deletion	NM_025132.4(WDR19):c.2364-4del	Asphyxiating thoracic dystrophy 5 [RCV001519487]\|Asphyxiating thoracic dystrophy 5 [RCV002495826]\|not provided [RCV003120618]	benign\|likely benign	4	39240265	39240265	Human	1	name
127299219	CV1154786	deletion	NM_025132.4(WDR19):c.2730-5del	Asphyxiating thoracic dystrophy 5 [RCV001513585]	benign	4	39253135	39253135	Human	1	name
150500578	CV1238205	single nucleotide variant	NM_025132.4(WDR19):c.603+23C>T	Asphyxiating thoracic dystrophy 5 [RCV002243368]\|Cranioectodermal dysplasia 4 [RCV002243370]\|Nephronophthisis 13 [RCV002243369]\|Senior-Loken syndrome 8 [RCV002243371]\|not provided [RCV001656635]	benign	4	39203745	39203745	Human	4	name
151352301	CV1321201	single nucleotide variant	NM_025132.4(WDR19):c.717-11C>G	Asphyxiating thoracic dystrophy 5 [RCV003772208]\|not provided [RCV001811704]	likely benign	4	39205552	39205552	Human	1	name
8657813	CV132657	single nucleotide variant	NM_025132.4(WDR19):c.3565+1G>A	Asphyxiating thoracic dystrophy 5 [RCV001212609]\|Connective tissue disorder [RCV002277157]\|Jeune thoracic dystrophy [RCV000516054]\|Nephronophthisis 13 [RCV001797626]\|Senior-Loken syndrome 8 [RCV000115015]\|not provided [RCV000681868]	pathogenic\|likely pathogenic	4	39273062	39273062	Human	5	name
151758401	CV1342930	single nucleotide variant	NM_025132.4(WDR19):c.3483+1G>C	Asphyxiating thoracic dystrophy 5 [RCV002024085]	likely pathogenic	4	39270101	39270101	Human	1	name
151763083	CV1356982	single nucleotide variant	NM_025132.4(WDR19):c.3358+3A>G	Asphyxiating thoracic dystrophy 5 [RCV001970414]	uncertain significance	4	39268094	39268094	Human	1	name
151880351	CV1360020	single nucleotide variant	NM_025132.4(WDR19):c.3114+3T>C	Asphyxiating thoracic dystrophy 5 [RCV002036781]\|Asphyxiating thoracic dystrophy 5 [RCV002479839]	uncertain significance	4	39255963	39255963	Human	1	name
151830513	CV1391711	single nucleotide variant	NM_025132.4(WDR19):c.3184-2A>G	Asphyxiating thoracic dystrophy 5 [RCV002050681]	pathogenic\|likely pathogenic	4	39266061	39266061	Human	1	name
151891960	CV1403314	single nucleotide variant	NM_025132.4(WDR19):c.3001+6T>C	Asphyxiating thoracic dystrophy 5 [RCV001943611]	uncertain significance	4	39254036	39254036	Human	1	name
151850146	CV1452046	single nucleotide variant	NM_025132.4(WDR19):c.3184-3C>T	Asphyxiating thoracic dystrophy 5 [RCV002016466]	uncertain significance	4	39266060	39266060	Human	1	name
151818794	CV1482145	single nucleotide variant	NM_025132.4(WDR19):c.1778-2A>C	Asphyxiating thoracic dystrophy 5 [RCV002029683]	likely pathogenic	4	39228484	39228484	Human	1	name
151747080	CV1485300	single nucleotide variant	NM_025132.4(WDR19):c.603+17A>G	Asphyxiating thoracic dystrophy 5 [RCV002006435]	likely benign\|uncertain significance	4	39203739	39203739	Human	1	name
151870869	CV1488622	single nucleotide variant	NM_025132.4(WDR19):c.716+12A>G	Asphyxiating thoracic dystrophy 5 [RCV002035648]	likely benign\|uncertain significance	4	39205278	39205278	Human	1	name
151728100	CV1505198	single nucleotide variant	NM_025132.4(WDR19):c.2562+4C>G	Asphyxiating thoracic dystrophy 5 [RCV002021013]	uncertain significance	4	39244392	39244392	Human	1	name
151874036	CV1511397	single nucleotide variant	NM_025132.4(WDR19):c.290+20T>G	Asphyxiating thoracic dystrophy 5 [RCV001960816]	likely benign	4	39189801	39189801	Human	1	name
152106189	CV1527321	duplication	NM_025132.4(WDR19):c.2364-4dup	Asphyxiating thoracic dystrophy 5 [RCV002079642]	benign	4	39240264	39240265	Human	1	name
152098592	CV1530847	single nucleotide variant	NM_025132.4(WDR19):c.962-11G>A	Asphyxiating thoracic dystrophy 5 [RCV002132962]\|Asphyxiating thoracic dystrophy 5 [RCV002494388]	likely benign	4	39215830	39215830	Human	1	name
152098002	CV1534425	single nucleotide variant	NM_025132.4(WDR19):c.164+12A>G	Asphyxiating thoracic dystrophy 5 [RCV002095120]\|Asphyxiating thoracic dystrophy 5 [RCV005025696]	likely benign\|uncertain significance	4	39186616	39186616	Human	1	name
152168695	CV1548124	single nucleotide variant	NM_025132.4(WDR19):c.406+12C>T	Asphyxiating thoracic dystrophy 5 [RCV002161204]	likely benign	4	39194671	39194671	Human	1	name
152122511	CV1554984	single nucleotide variant	NM_025132.4(WDR19):c.3002-7G>T	Asphyxiating thoracic dystrophy 5 [RCV002198248]	likely benign	4	39255841	39255841	Human	1	name
152066891	CV1579029	deletion	NM_025132.4(WDR19):c.3918-8del	Asphyxiating thoracic dystrophy 5 [RCV002074572]	likely benign	4	39278528	39278528	Human	1	name
152137583	CV1581483	single nucleotide variant	NM_025132.4(WDR19):c.890+19T>A	Asphyxiating thoracic dystrophy 5 [RCV002100326]	likely benign	4	39205755	39205755	Human	1	name
152044476	CV1584317	single nucleotide variant	NM_025132.4(WDR19):c.2876+8A>G	Asphyxiating thoracic dystrophy 5 [RCV002071431]	likely benign	4	39253300	39253300	Human	1	name
152070930	CV1591477	single nucleotide variant	NM_025132.4(WDR19):c.1250-8T>C	Asphyxiating thoracic dystrophy 5 [RCV002209968]	likely benign	4	39217126	39217126	Human	1	name
152100979	CV1606803	single nucleotide variant	NM_025132.4(WDR19):c.406+14G>A	Asphyxiating thoracic dystrophy 5 [RCV002195543]	likely benign	4	39194673	39194673	Human	1	name
152147125	CV1608114	single nucleotide variant	NM_025132.4(WDR19):c.604-10T>C	Asphyxiating thoracic dystrophy 5 [RCV002178891]	likely benign	4	39205144	39205144	Human	1	name
152083001	CV1623682	single nucleotide variant	NM_025132.4(WDR19):c.2646-8C>T	Asphyxiating thoracic dystrophy 5 [RCV002149557]	likely benign	4	39245361	39245361	Human	1	name
152141483	CV1625307	single nucleotide variant	NM_025132.4(WDR19):c.962-12C>T	Asphyxiating thoracic dystrophy 5 [RCV002219431]	likely benign	4	39215829	39215829	Human	1	name
152040794	CV1644203	single nucleotide variant	NM_025132.4(WDR19):c.522+13C>T	Asphyxiating thoracic dystrophy 5 [RCV002126063]\|Asphyxiating thoracic dystrophy 5 [RCV002500250]	likely benign	4	39199606	39199606	Human	1	name
152063829	CV1644856	single nucleotide variant	NM_025132.4(WDR19):c.3566-9C>T	Asphyxiating thoracic dystrophy 5 [RCV002147125]	likely benign	4	39274799	39274799	Human	1	name
152096102	CV1653387	single nucleotide variant	NM_025132.4(WDR19):c.2142+8G>C	Asphyxiating thoracic dystrophy 5 [RCV002094858]	likely benign	4	39231964	39231964	Human	1	name
152048948	CV1656080	single nucleotide variant	NM_025132.4(WDR19):c.604-20C>G	Asphyxiating thoracic dystrophy 5 [RCV002207270]	likely benign	4	39205134	39205134	Human	1	name
152982078	CV1679038	single nucleotide variant	NM_025132.4(WDR19):c.2645+1G>T	Cranioectodermal dysplasia 4 [RCV002248396]	pathogenic	4	39244553	39244553	Human	1	name
156314535	CV1875825	single nucleotide variant	NM_025132.4(WDR19):c.603+20C>G	Asphyxiating thoracic dystrophy 5 [RCV003062661]	likely benign	4	39203742	39203742	Human	1	name
156395522	CV1877145	single nucleotide variant	NM_025132.4(WDR19):c.523-18A>G	Asphyxiating thoracic dystrophy 5 [RCV003068545]	likely benign	4	39203624	39203624	Human	1	name
156286138	CV1884832	single nucleotide variant	NM_025132.4(WDR19):c.291-17A>G	Asphyxiating thoracic dystrophy 5 [RCV003061252]	likely benign	4	39194527	39194527	Human	1	name
156296442	CV1888697	single nucleotide variant	NM_025132.4(WDR19):c.891-16C>G	Asphyxiating thoracic dystrophy 5 [RCV003061683]	likely benign	4	39214585	39214585	Human	1	name
156033226	CV1889943	single nucleotide variant	NM_025132.4(WDR19):c.3359-5T>A	Asphyxiating thoracic dystrophy 5 [RCV003078200]	uncertain significance	4	39269971	39269971	Human	1	name
156145184	CV1895069	single nucleotide variant	NM_025132.4(WDR19):c.165-15T>C	Asphyxiating thoracic dystrophy 5 [RCV003082353]	likely benign	4	39189641	39189641	Human	1	name
156374775	CV1899224	single nucleotide variant	NM_025132.4(WDR19):c.1777+8A>G	Asphyxiating thoracic dystrophy 5 [RCV003092769]	likely benign	4	39228365	39228365	Human	1	name
156208008	CV1906070	single nucleotide variant	NM_025132.4(WDR19):c.3183+3A>G	Asphyxiating thoracic dystrophy 5 [RCV003084479]	uncertain significance	4	39257557	39257557	Human	1	name
156359290	CV1910622	single nucleotide variant	NM_025132.4(WDR19):c.3184-7T>C	Asphyxiating thoracic dystrophy 5 [RCV002632559]	likely benign	4	39266056	39266056	Human	1	name
156416983	CV1919176	single nucleotide variant	NM_025132.4(WDR19):c.522+13C>A	Asphyxiating thoracic dystrophy 5 [RCV002610466]	likely benign	4	39199606	39199606	Human	1	name
10050999	CV192783	deletion	NM_025132.4(WDR19):c.2364-3del	Asphyxiating thoracic dystrophy 5 [RCV001078879]\|WDR19-related disorder [RCV004539633]\|not provided [RCV000176230]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39240274	39240274	Human	2	name , alternate_id
156405280	CV1994325	single nucleotide variant	NM_025132.4(WDR19):c.2562+5T>C	Asphyxiating thoracic dystrophy 5 [RCV002658268]	uncertain significance	4	39244393	39244393	Human	1	name
156150389	CV1999294	single nucleotide variant	NM_025132.4(WDR19):c.1778-4G>A	Asphyxiating thoracic dystrophy 5 [RCV002663873]	likely benign	4	39228482	39228482	Human	1	name
156008092	CV2015152	single nucleotide variant	NM_025132.4(WDR19):c.2563-3T>C	Asphyxiating thoracic dystrophy 5 [RCV002690368]	uncertain significance	4	39244467	39244467	Human	1	name
156377428	CV2024864	single nucleotide variant	NM_025132.4(WDR19):c.1356+4A>G	Asphyxiating thoracic dystrophy 5 [RCV002722037]	uncertain significance	4	39217244	39217244	Human	1	name
156173313	CV2037912	single nucleotide variant	NM_025132.4(WDR19):c.3566-6T>A	Asphyxiating thoracic dystrophy 5 [RCV002741926]\|Asphyxiating thoracic dystrophy 5 [RCV005034403]	uncertain significance	4	39274802	39274802	Human	1	name
156036595	CV2047645	single nucleotide variant	NM_025132.4(WDR19):c.522+14G>A	Asphyxiating thoracic dystrophy 5 [RCV002781331]	likely benign	4	39199607	39199607	Human	1	name
156007591	CV2054413	single nucleotide variant	NM_025132.4(WDR19):c.603+17A>C	Asphyxiating thoracic dystrophy 5 [RCV002819954]	likely benign	4	39203739	39203739	Human	1	name
156026928	CV2078175	single nucleotide variant	NM_025132.4(WDR19):c.406+20A>G	Asphyxiating thoracic dystrophy 5 [RCV002866881]	likely benign	4	39194679	39194679	Human	1	name
156116158	CV2084997	single nucleotide variant	NM_025132.4(WDR19):c.3483+1G>A	Asphyxiating thoracic dystrophy 5 [RCV002889379]	likely pathogenic	4	39270101	39270101	Human	1	name
156014799	CV2086921	single nucleotide variant	NM_025132.4(WDR19):c.2646-9C>T	Asphyxiating thoracic dystrophy 5 [RCV002866297]	uncertain significance	4	39245360	39245360	Human	1	name
156227195	CV2088833	single nucleotide variant	NM_025132.4(WDR19):c.1983-2A>C	Asphyxiating thoracic dystrophy 5 [RCV002876098]	likely pathogenic	4	39231795	39231795	Human	1	name
156018288	CV2121536	single nucleotide variant	NM_025132.4(WDR19):c.3115-8C>T	Asphyxiating thoracic dystrophy 5 [RCV002948645]	likely benign	4	39257478	39257478	Human	1	name
156029572	CV2125396	single nucleotide variant	NM_025132.4(WDR19):c.1630-9A>G	Asphyxiating thoracic dystrophy 5 [RCV002949166]	likely benign	4	39228201	39228201	Human	1	name
156234201	CV2173236	single nucleotide variant	NM_025132.4(WDR19):c.717-13T>G	Asphyxiating thoracic dystrophy 5 [RCV003059421]	likely benign	4	39205550	39205550	Human	1	name
156163102	CV2174205	deletion	NM_025132.4(WDR19):c.604-12del	Asphyxiating thoracic dystrophy 5 [RCV003056979]	likely benign	4	39205142	39205142	Human	1	name
156204854	CV2179229	single nucleotide variant	NM_025132.4(WDR19):c.3262-8T>C	Asphyxiating thoracic dystrophy 5 [RCV003024581]	uncertain significance	4	39267987	39267987	Human	1	name
156360338	CV2184129	single nucleotide variant	NM_025132.4(WDR19):c.3114+4A>G	Asphyxiating thoracic dystrophy 5 [RCV003048980]	uncertain significance	4	39255964	39255964	Human	1	name
156370588	CV2188623	single nucleotide variant	NM_025132.4(WDR19):c.2364-9T>G	Asphyxiating thoracic dystrophy 5 [RCV003066254]	likely benign	4	39240268	39240268	Human	1	name
11526049	CV246965	single nucleotide variant	NM_025132.4(WDR19):c.3918-6A>C	Asphyxiating thoracic dystrophy 5 [RCV000877878]\|Asphyxiating thoracic dystrophy 5 [RCV001150826]\|Cranioectodermal dysplasia 4 [RCV001144715]\|not specified [RCV000239256]	likely benign\|uncertain significance	4	39278533	39278533	Human	2	name
11633242	CV264179	single nucleotide variant	NM_025132.4(WDR19):c.2363+1G>A	Asphyxiating thoracic dystrophy 5 [RCV001234299]\|Asphyxiating thoracic dystrophy 5 [RCV002494812]\|Senior-Loken syndrome 8 [RCV005235249]\|not provided [RCV000320568]	pathogenic\|likely pathogenic	4	39234876	39234876	Human	2	name
11583995	CV293399	single nucleotide variant	NM_025132.4(WDR19):c.1357-7G>A	Asphyxiating thoracic dystrophy 5 [RCV000365336]\|Asphyxiating thoracic dystrophy 5 [RCV000955100]\|Cranioectodermal dysplasia 4 [RCV000270771]\|WDR19-related disorder [RCV004530411]	likely benign\|uncertain significance	4	39217976	39217976	Human	3	name , alternate_id
11593908	CV298359	single nucleotide variant	NM_025132.4(WDR19):c.1249+9A>G	Asphyxiating thoracic dystrophy 5 [RCV000878418]\|Connective tissue disorder [RCV002278577]\|Cranioectodermal dysplasia [RCV000401556]\|Jeune thoracic dystrophy [RCV000353502]	benign\|uncertain significance	4	39216219	39216219	Human	4	name
11593377	CV298399	single nucleotide variant	NM_025132.4(WDR19):c.3183+9G>A	Asphyxiating thoracic dystrophy 5 [RCV000395820]\|Asphyxiating thoracic dystrophy 5 [RCV000877838]\|Connective tissue disorder [RCV002278578]\|Cranioectodermal dysplasia 4 [RCV000348364]\|Nephronophthisis 13 [RCV002244831]\|Senior-Loken syndrome 8 [RCV002244832]\|not provided [RCV003114505]	benign\|likely benign\|uncertain significance	4	39257563	39257563	Human	5	name
405000069	CV3085978	single nucleotide variant	NM_025132.4(WDR19):c.2729+9A>G	Asphyxiating thoracic dystrophy 5 [RCV003783349]	likely benign	4	39245461	39245461	Human	1	name
402524034	CV3086704	single nucleotide variant	NM_025132.4(WDR19):c.961+88T>C	Asphyxiating thoracic dystrophy 5 [RCV003781321]	likely benign	4	39214759	39214759	Human	1	name
402509382	CV3088918	single nucleotide variant	NM_025132.4(WDR19):c.523-12T>C	Asphyxiating thoracic dystrophy 5 [RCV003780122]	likely benign	4	39203630	39203630	Human	1	name
402500390	CV3089592	single nucleotide variant	NM_025132.4(WDR19):c.604-19T>C	Asphyxiating thoracic dystrophy 5 [RCV003788515]	likely benign	4	39205135	39205135	Human	1	name
405007158	CV3096152	deletion	NM_025132.4(WDR19):c.1777+1del	Asphyxiating thoracic dystrophy 5 [RCV003794302]	pathogenic	4	39228357	39228357	Human	1	name
404978618	CV3099071	duplication	NM_025132.4(WDR19):c.2730-5dup	Asphyxiating thoracic dystrophy 5 [RCV003791051]	benign	4	39253134	39253135	Human	1	name
405071590	CV3099876	single nucleotide variant	NM_025132.4(WDR19):c.2364-2A>G	Asphyxiating thoracic dystrophy 5 [RCV003799591]\|Senior-Loken syndrome 8 [RCV005254873]	likely pathogenic	4	39240275	39240275	Human	2	name
405067508	CV3103474	single nucleotide variant	NM_025132.4(WDR19):c.717-19G>T	Asphyxiating thoracic dystrophy 5 [RCV003799304]	likely benign	4	39205544	39205544	Human	1	name
405034984	CV3106049	single nucleotide variant	NM_025132.4(WDR19):c.603+15C>G	Asphyxiating thoracic dystrophy 5 [RCV003796739]	likely benign	4	39203737	39203737	Human	1	name
405013123	CV3106507	single nucleotide variant	NM_025132.4(WDR19):c.3359-6T>C	Asphyxiating thoracic dystrophy 5 [RCV003794844]	likely benign	4	39269970	39269970	Human	1	name
405106183	CV3113378	single nucleotide variant	NM_025132.4(WDR19):c.1778-5T>C	Asphyxiating thoracic dystrophy 5 [RCV003812670]	likely benign	4	39228481	39228481	Human	1	name
596941985	CV3408343	single nucleotide variant	NM_025132.4(WDR19):c.2422-9T>G	Retinal dystrophy [RCV004816014]	uncertain significance	4	39244239	39244239	Human	2	name
407523723	CV3489701	single nucleotide variant	NM_025132.4(WDR19):c.2422-5T>C	Inborn genetic diseases [RCV004678160]	uncertain significance	4	39244243	39244243	Human	1	name
12844507	CV367952	single nucleotide variant	NM_025132.4(WDR19):c.2421+5C>G	not specified [RCV000438109]	likely benign	4	39240339	39240339	Human		name
597743279	CV3721451	single nucleotide variant	NM_025132.4(WDR19):c.1134+1G>A	Asphyxiating thoracic dystrophy 5 [RCV005039079]	likely pathogenic	4	39216014	39216014	Human	1	name
597743285	CV3721452	single nucleotide variant	NM_025132.4(WDR19):c.1135-2A>G	Asphyxiating thoracic dystrophy 5 [RCV005039080]	likely pathogenic	4	39216094	39216094	Human	1	name
597743619	CV3721471	deletion	NM_025132.4(WDR19):c.2364-2del	Asphyxiating thoracic dystrophy 5 [RCV005039104]	likely pathogenic	4	39240275	39240275	Human	1	name
597743632	CV3721473	single nucleotide variant	NM_025132.4(WDR19):c.2421+5C>T	Asphyxiating thoracic dystrophy 5 [RCV005039106]	uncertain significance	4	39240339	39240339	Human	1	name
597743690	CV3721481	single nucleotide variant	NM_025132.4(WDR19):c.2730-1G>A	Asphyxiating thoracic dystrophy 5 [RCV005039114]	likely pathogenic	4	39253145	39253145	Human	1	name
597743844	CV3721503	single nucleotide variant	NM_025132.4(WDR19):c.3917+6T>C	Asphyxiating thoracic dystrophy 5 [RCV005039137]	uncertain significance	4	39278213	39278213	Human	1	name
597841822	CV3864933	deletion	NM_025132.4(WDR19):c.890+23del	Asphyxiating thoracic dystrophy 5 [RCV005211381]	benign	4	39205755	39205755	Human	1	name
597920252	CV3865444	single nucleotide variant	NM_025132.4(WDR19):c.603+20C>T	Asphyxiating thoracic dystrophy 5 [RCV005223388]	likely benign	4	39203742	39203742	Human	1	name
597908582	CV3867076	single nucleotide variant	NM_025132.4(WDR19):c.3262-6T>C	Asphyxiating thoracic dystrophy 5 [RCV005221540]	likely benign	4	39267989	39267989	Human	1	name
597839168	CV3867654	single nucleotide variant	NM_025132.4(WDR19):c.3841-4C>G	Asphyxiating thoracic dystrophy 5 [RCV005210849]	likely benign	4	39278127	39278127	Human	1	name
597895380	CV3868778	single nucleotide variant	NM_025132.4(WDR19):c.891-19A>G	Asphyxiating thoracic dystrophy 5 [RCV005219484]	likely benign	4	39214582	39214582	Human	1	name
597926992	CV3874064	single nucleotide variant	NM_025132.4(WDR19):c.2729+1G>A	Asphyxiating thoracic dystrophy 5 [RCV005224336]	likely pathogenic	4	39245453	39245453	Human	1	name
597927441	CV3874127	single nucleotide variant	NM_025132.4(WDR19):c.962-12C>G	Asphyxiating thoracic dystrophy 5 [RCV005224399]	likely benign	4	39215829	39215829	Human	1	name
597860346	CV3874758	single nucleotide variant	NM_025132.4(WDR19):c.165-17G>C	Asphyxiating thoracic dystrophy 5 [RCV005214099]	likely benign	4	39189639	39189639	Human	1	name
597874796	CV3874978	single nucleotide variant	NM_025132.4(WDR19):c.2729+1G>T	Asphyxiating thoracic dystrophy 5 [RCV005216454]	likely pathogenic	4	39245453	39245453	Human	1	name
597877525	CV3875502	single nucleotide variant	NM_025132.4(WDR19):c.3917+9G>A	Asphyxiating thoracic dystrophy 5 [RCV005216815]	likely benign	4	39278216	39278216	Human	1	name
597850904	CV3877022	single nucleotide variant	NM_025132.4(WDR19):c.2421+1G>T	Asphyxiating thoracic dystrophy 5 [RCV005228250]	likely pathogenic	4	39240335	39240335	Human	1	name
597911991	CV3879618	single nucleotide variant	NM_025132.4(WDR19):c.522+10T>C	Asphyxiating thoracic dystrophy 5 [RCV005222019]	likely benign	4	39199603	39199603	Human	1	name
12912852	CV421487	single nucleotide variant	NM_025132.4(WDR19):c.1480-2A>G	not provided [RCV000493090]	pathogenic	4	39224882	39224882	Human		name
13467018	CV440093	single nucleotide variant	NM_025132.4(WDR19):c.3484-2A>C	Asphyxiating thoracic dystrophy 5 [RCV001851418]\|Type IV short rib polydactyly syndrome [RCV000515847]	pathogenic\|likely pathogenic	4	39272978	39272978	Human	2	name
13467000	CV440094	single nucleotide variant	NM_025132.4(WDR19):c.3716+1G>A	Asphyxiating thoracic dystrophy 5 [RCV005034059]\|Jeune thoracic dystrophy [RCV000515837]	pathogenic\|likely pathogenic	4	39274959	39274959	Human	2	name
13810625	CV559832	single nucleotide variant	NM_025132.4(WDR19):c.1982+2T>C	Asphyxiating thoracic dystrophy 5 [RCV000688346]\|Asphyxiating thoracic dystrophy 5 [RCV005034296]	likely pathogenic	4	39228692	39228692	Human	1	name
14394004	CV609536	single nucleotide variant	NM_025132.4(WDR19):c.291-37C>T	not provided [RCV000756911]	benign	4	39194507	39194507	Human		name
15188313	CV730289	single nucleotide variant	NM_025132.4(WDR19):c.3359-8T>G	Asphyxiating thoracic dystrophy 5 [RCV000887498]\|not provided [RCV001701349]	likely benign	4	39269968	39269968	Human	1	name
15126271	CV759518	single nucleotide variant	NM_025132.4(WDR19):c.3358+9G>A	Asphyxiating thoracic dystrophy 5 [RCV000919294]	likely benign	4	39268100	39268100	Human	1	name
15154012	CV777509	single nucleotide variant	NM_025132.4(WDR19):c.2363+7C>T	Asphyxiating thoracic dystrophy 5 [RCV000946201]\|Asphyxiating thoracic dystrophy 5 [RCV002488026]\|not provided [RCV001573074]\|not specified [RCV001818932]	likely benign	4	39234882	39234882	Human	1	name
21071315	CV790471	single nucleotide variant	NM_025132.4(WDR19):c.1250-1G>A	Asphyxiating thoracic dystrophy 5 [RCV000987439]\|Asphyxiating thoracic dystrophy 5 [RCV005036256]	pathogenic\|likely pathogenic	4	39217133	39217133	Human	1	name
21405944	CV799354	deletion	NM_025132.4(WDR19):c.1480-3del	not provided [RCV001811596]\|not specified [RCV001529232]	benign	4	39224867	39224867	Human		name
26899636	CV851122	single nucleotide variant	NM_025132.4(WDR19):c.2563-6T>C	Asphyxiating thoracic dystrophy 5 [RCV001071032]	likely benign\|uncertain significance	4	39244464	39244464	Human	1	name
26923321	CV851604	single nucleotide variant	NM_025132.4(WDR19):c.1982+6C>T	Asphyxiating thoracic dystrophy 5 [RCV001063759]	uncertain significance	4	39228696	39228696	Human	1	name
28873150	CV891790	single nucleotide variant	NM_025132.4(WDR19):c.3483+5G>A	Asphyxiating thoracic dystrophy 5 [RCV001149319]\|Asphyxiating thoracic dystrophy 5 [RCV001202818]\|Asphyxiating thoracic dystrophy 5 [RCV002480539]\|Connective tissue disorder [RCV002276640]\|Cranioectodermal dysplasia 4 [RCV001146557]\|WDR19-related disorder [RCV00 ... (more) 4538371]	uncertain significance	4	39270105	39270105	Human	6	name , alternate_id
40886698	CV973429	single nucleotide variant	NM_025132.4(WDR19):c.2646-2A>G	Asphyxiating thoracic dystrophy 5 [RCV001880103]\|Inborn genetic diseases [RCV001265913]	likely pathogenic	4	39245367	39245367	Human	2	name
41405034	CV981462	single nucleotide variant	NM_025132.4(WDR19):c.1778-1G>A	Asphyxiating thoracic dystrophy 5 [RCV001871671]\|not provided [RCV001812343]	likely pathogenic	4	39228485	39228485	Human	1	name
127282873	CV1071634	deletion	NM_025132.4(WDR19):c.6+6_6+8del	Asphyxiating thoracic dystrophy 5 [RCV001411433]\|Asphyxiating thoracic dystrophy 5 [RCV002499881]	likely benign	4	39182567	39182569	Human	1	name
127280629	CV1071645	single nucleotide variant	NM_025132.4(WDR19):c.2364-16C>T	Asphyxiating thoracic dystrophy 5 [RCV001409916]	likely benign	4	39240261	39240261	Human	1	name
127247949	CV1071647	single nucleotide variant	NM_025132.4(WDR19):c.2422-15G>A	Asphyxiating thoracic dystrophy 5 [RCV001417022]	likely benign	4	39244233	39244233	Human	1	name
127277372	CV1071649	single nucleotide variant	NM_025132.4(WDR19):c.3358+16G>A	Asphyxiating thoracic dystrophy 5 [RCV001407750]\|not provided [RCV004711597]	likely benign	4	39268107	39268107	Human	1	name
127243023	CV1093277	single nucleotide variant	NM_025132.4(WDR19):c.2877-12A>G	Asphyxiating thoracic dystrophy 5 [RCV001423866]\|Asphyxiating thoracic dystrophy 5 [RCV002499914]	likely benign	4	39253894	39253894	Human	1	name
127248541	CV1093283	single nucleotide variant	NM_025132.4(WDR19):c.3841-15A>G	Asphyxiating thoracic dystrophy 5 [RCV001435857]	likely benign	4	39278116	39278116	Human	1	name
127312604	CV1135727	single nucleotide variant	NM_025132.4(WDR19):c.2363+11G>C	Asphyxiating thoracic dystrophy 5 [RCV001501966]	likely benign	4	39234886	39234886	Human	1	name
127319434	CV1135730	single nucleotide variant	NM_025132.4(WDR19):c.3565+15C>T	Asphyxiating thoracic dystrophy 5 [RCV001504019]	likely benign	4	39273076	39273076	Human	1	name
127291261	CV1154784	single nucleotide variant	NM_025132.4(WDR19):c.1135-18C>G	Asphyxiating thoracic dystrophy 5 [RCV001510277]	benign	4	39216078	39216078	Human	1	name
150476465	CV1218480	single nucleotide variant	NM_025132.4(WDR19):c.3359-55A>G	not provided [RCV001616107]	benign	4	39269921	39269921	Human		name
150484956	CV1222604	single nucleotide variant	NM_025132.4(WDR19):c.3114+62A>G	not provided [RCV001617607]	benign	4	39256022	39256022	Human		name
150515809	CV1227675	single nucleotide variant	NM_025132.4(WDR19):c.3917+80A>G	not provided [RCV001638950]	benign	4	39278287	39278287	Human		name
150517105	CV1227842	single nucleotide variant	NM_025132.4(WDR19):c.1629+76A>G	not provided [RCV001639645]	benign	4	39225109	39225109	Human		name
150460121	CV1231287	single nucleotide variant	NM_025132.4(WDR19):c.2253+85G>A	not provided [RCV001640851]	benign	4	39232357	39232357	Human		name
150450567	CV1232695	single nucleotide variant	NM_025132.4(WDR19):c.962-109A>G	not provided [RCV001647770]	benign	4	39215732	39215732	Human		name
150505823	CV1254714	single nucleotide variant	NM_025132.4(WDR19):c.3841-27T>C	Asphyxiating thoracic dystrophy 5 [RCV002243392]\|Cranioectodermal dysplasia 4 [RCV002243394]\|Nephronophthisis 13 [RCV002243393]\|Senior-Loken syndrome 8 [RCV002243395]\|not provided [RCV001678019]	benign	4	39278104	39278104	Human	4	name
150465649	CV1255068	single nucleotide variant	NM_025132.4(WDR19):c.406+128C>T	not provided [RCV001670241]	benign	4	39194787	39194787	Human		name
150495276	CV1256602	single nucleotide variant	NM_025132.4(WDR19):c.290+226T>C	not provided [RCV001675567]	benign	4	39190007	39190007	Human		name
150454590	CV1259416	single nucleotide variant	NM_025132.4(WDR19):c.890+177A>G	not provided [RCV001681190]	benign	4	39205913	39205913	Human		name
150482159	CV1261575	single nucleotide variant	NM_025132.4(WDR19):c.1630-59G>A	not provided [RCV001686178]	benign	4	39228151	39228151	Human		name
150458370	CV1269624	duplication	NM_025132.4(WDR19):c.3841-64dup	not provided [RCV001693164]	benign	4	39278051	39278052	Human		name
150436585	CV1270980	single nucleotide variant	NM_025132.4(WDR19):c.2877-30A>G	not provided [RCV001689530]	benign	4	39253876	39253876	Human		name
150462538	CV1273024	single nucleotide variant	NM_025132.4(WDR19):c.962-172T>C	not provided [RCV001693781]	benign	4	39215669	39215669	Human		name
150490153	CV1279507	single nucleotide variant	NM_025132.4(WDR19):c.291-177A>G	not provided [RCV001716419]	benign	4	39194367	39194367	Human		name
150493881	CV1282292	single nucleotide variant	NM_025132.4(WDR19):c.2253+59A>G	not provided [RCV001717097]	benign	4	39232331	39232331	Human		name
150488659	CV1284068	single nucleotide variant	NM_025132.4(WDR19):c.290+115C>T	not provided [RCV001716139]	benign	4	39189896	39189896	Human		name
151773737	CV1417187	single nucleotide variant	NM_025132.4(WDR19):c.3358+12A>G	Asphyxiating thoracic dystrophy 5 [RCV001971428]	uncertain significance	4	39268103	39268103	Human	1	name
151730000	CV1441048	single nucleotide variant	NM_025132.4(WDR19):c.2364-18C>G	Asphyxiating thoracic dystrophy 5 [RCV001945939]	likely benign\|uncertain significance	4	39240259	39240259	Human	1	name
152135973	CV1528398	single nucleotide variant	NM_025132.4(WDR19):c.3716+13G>A	Asphyxiating thoracic dystrophy 5 [RCV002100122]\|Asphyxiating thoracic dystrophy 5 [RCV002507957]	likely benign	4	39274971	39274971	Human	1	name
152160755	CV1530891	single nucleotide variant	NM_025132.4(WDR19):c.1135-18C>T	Asphyxiating thoracic dystrophy 5 [RCV002123149]	likely benign	4	39216078	39216078	Human	1	name
152059217	CV1532699	single nucleotide variant	NM_025132.4(WDR19):c.2421+10G>C	Asphyxiating thoracic dystrophy 5 [RCV002208448]	likely benign	4	39240344	39240344	Human	1	name
152087433	CV1536399	single nucleotide variant	NM_025132.4(WDR19):c.1356+11T>G	Asphyxiating thoracic dystrophy 5 [RCV002171369]	likely benign	4	39217251	39217251	Human	1	name
152129690	CV1550877	single nucleotide variant	NM_025132.4(WDR19):c.3183+19A>C	Asphyxiating thoracic dystrophy 5 [RCV002155359]	likely benign	4	39257573	39257573	Human	1	name
152111221	CV1551352	single nucleotide variant	NM_025132.4(WDR19):c.3483+14A>C	Asphyxiating thoracic dystrophy 5 [RCV002196798]	likely benign	4	39270114	39270114	Human	1	name
152154831	CV1560861	single nucleotide variant	NM_025132.4(WDR19):c.3184-14C>T	Asphyxiating thoracic dystrophy 5 [RCV002102787]	likely benign	4	39266049	39266049	Human	1	name
152175954	CV1562080	single nucleotide variant	NM_025132.4(WDR19):c.2730-11T>C	Asphyxiating thoracic dystrophy 5 [RCV002164092]	likely benign	4	39253135	39253135	Human	1	name
152110137	CV1563985	single nucleotide variant	NM_025132.4(WDR19):c.2876+10T>C	Asphyxiating thoracic dystrophy 5 [RCV002174225]\|Asphyxiating thoracic dystrophy 5 [RCV002500372]\|WDR19-related disorder [RCV004543906]	likely benign	4	39253302	39253302	Human	5	name , alternate_id
152077900	CV1564757	single nucleotide variant	NM_025132.4(WDR19):c.1983-15G>A	Asphyxiating thoracic dystrophy 5 [RCV002192658]	likely benign	4	39231782	39231782	Human	1	name
152121785	CV1570310	single nucleotide variant	NM_025132.4(WDR19):c.1778-11T>C	Asphyxiating thoracic dystrophy 5 [RCV002216879]	likely benign	4	39228475	39228475	Human	1	name
152128347	CV1574035	duplication	NM_025132.4(WDR19):c.3184-16dup	Asphyxiating thoracic dystrophy 5 [RCV002155181]	likely benign	4	39266046	39266047	Human	1	name
152120164	CV1576153	single nucleotide variant	NM_025132.4(WDR19):c.2645+15C>G	Asphyxiating thoracic dystrophy 5 [RCV002197940]	likely benign	4	39244567	39244567	Human	1	name
152148040	CV1576896	single nucleotide variant	NM_025132.4(WDR19):c.2364-16C>G	Asphyxiating thoracic dystrophy 5 [RCV002179019]	likely benign	4	39240261	39240261	Human	1	name
152080750	CV1580076	single nucleotide variant	NM_025132.4(WDR19):c.2876+10T>A	Asphyxiating thoracic dystrophy 5 [RCV002076334]\|Asphyxiating thoracic dystrophy 5 [RCV002508064]	likely benign	4	39253302	39253302	Human	1	name
152089748	CV1581642	single nucleotide variant	NM_025132.4(WDR19):c.2646-16G>T	Asphyxiating thoracic dystrophy 5 [RCV002077545]\|Asphyxiating thoracic dystrophy 5 [RCV002498086]	likely benign	4	39245353	39245353	Human	1	name
152028550	CV1587018	single nucleotide variant	NM_025132.4(WDR19):c.3114+10T>C	Asphyxiating thoracic dystrophy 5 [RCV002085499]	likely benign	4	39255970	39255970	Human	1	name
152123724	CV1587296	deletion	NM_025132.4(WDR19):c.2364-13del	Asphyxiating thoracic dystrophy 5 [RCV002136042]	likely benign	4	39240264	39240264	Human	1	name
152134330	CV1590409	single nucleotide variant	NM_025132.4(WDR19):c.2645+16G>A	Asphyxiating thoracic dystrophy 5 [RCV002218503]	likely benign	4	39244568	39244568	Human	1	name
152064197	CV1606707	single nucleotide variant	NM_025132.4(WDR19):c.1134+16T>C	Asphyxiating thoracic dystrophy 5 [RCV002209088]	likely benign	4	39216029	39216029	Human	1	name
152033961	CV1610493	single nucleotide variant	NM_025132.4(WDR19):c.3261+20C>T	Asphyxiating thoracic dystrophy 5 [RCV002125023]\|Asphyxiating thoracic dystrophy 5 [RCV002486903]	benign\|likely benign	4	39266160	39266160	Human	1	name
152056908	CV1635112	deletion	NM_025132.4(WDR19):c.3918-19del	Asphyxiating thoracic dystrophy 5 [RCV002089816]	likely benign	4	39278519	39278519	Human	1	name
152034400	CV1639456	single nucleotide variant	NM_025132.4(WDR19):c.3358+14A>G	Asphyxiating thoracic dystrophy 5 [RCV002187253]\|Asphyxiating thoracic dystrophy 5 [RCV002498173]	likely benign	4	39268105	39268105	Human	1	name
152168060	CV1642959	single nucleotide variant	NM_025132.4(WDR19):c.3261+11C>T	Asphyxiating thoracic dystrophy 5 [RCV002204872]	likely benign	4	39266151	39266151	Human	1	name
152071919	CV1643623	single nucleotide variant	NM_025132.4(WDR19):c.1777+12C>T	Asphyxiating thoracic dystrophy 5 [RCV002111567]	likely benign	4	39228369	39228369	Human	1	name
152168489	CV1644317	single nucleotide variant	NM_025132.4(WDR19):c.3115-10C>T	Asphyxiating thoracic dystrophy 5 [RCV002182461]	likely benign	4	39257476	39257476	Human	1	name
152116444	CV1645691	single nucleotide variant	NM_025132.4(WDR19):c.2730-17G>C	Asphyxiating thoracic dystrophy 5 [RCV002174992]	likely benign	4	39253129	39253129	Human	1	name
152091727	CV1646988	single nucleotide variant	NM_025132.4(WDR19):c.2142+16T>C	Asphyxiating thoracic dystrophy 5 [RCV002150677]	likely benign	4	39231972	39231972	Human	1	name
152075643	CV1653130	single nucleotide variant	NM_025132.4(WDR19):c.1479+17T>A	Asphyxiating thoracic dystrophy 5 [RCV002075693]	likely benign	4	39218122	39218122	Human	1	name
152075679	CV1653158	single nucleotide variant	NM_025132.4(WDR19):c.2877-17A>G	Asphyxiating thoracic dystrophy 5 [RCV002075700]	likely benign	4	39253889	39253889	Human	1	name
152063383	CV1664049	single nucleotide variant	NM_025132.4(WDR19):c.2563-13T>G	Asphyxiating thoracic dystrophy 5 [RCV002073952]	likely benign	4	39244457	39244457	Human	1	name
155268593	CV1705420	single nucleotide variant	NM_025132.4(WDR19):c.961+102A>T	not provided [RCV002286025]	likely benign	4	39214773	39214773	Human		name
156362045	CV1881308	single nucleotide variant	NM_025132.4(WDR19):c.2645+15C>T	Asphyxiating thoracic dystrophy 5 [RCV003065685]	likely benign	4	39244567	39244567	Human	1	name
156079218	CV1886741	single nucleotide variant	NM_025132.4(WDR19):c.3840+13A>G	Asphyxiating thoracic dystrophy 5 [RCV003079809]	likely benign	4	39277156	39277156	Human	1	name
156368919	CV1887812	single nucleotide variant	NM_025132.4(WDR19):c.1479+15C>T	Asphyxiating thoracic dystrophy 5 [RCV003092265]	likely benign	4	39218120	39218120	Human	1	name
156381332	CV1893690	single nucleotide variant	NM_025132.4(WDR19):c.2143-12T>G	Asphyxiating thoracic dystrophy 5 [RCV003093298]	uncertain significance	4	39232150	39232150	Human	1	name
156201946	CV1895340	single nucleotide variant	NM_025132.4(WDR19):c.3358+19T>C	Asphyxiating thoracic dystrophy 5 [RCV003084247]	likely benign	4	39268110	39268110	Human	1	name
156358931	CV1897906	single nucleotide variant	NM_025132.4(WDR19):c.3484-16A>G	Asphyxiating thoracic dystrophy 5 [RCV002602359]	likely benign	4	39272964	39272964	Human	1	name
156371339	CV1905411	single nucleotide variant	NM_025132.4(WDR19):c.3918-15C>T	Asphyxiating thoracic dystrophy 5 [RCV003092456]	likely benign	4	39278524	39278524	Human	1	name
156292022	CV1925975	single nucleotide variant	NM_025132.4(WDR19):c.3359-13A>T	Asphyxiating thoracic dystrophy 5 [RCV002647237]	likely benign	4	39269963	39269963	Human	1	name
156165251	CV1929941	single nucleotide variant	NM_025132.4(WDR19):c.2646-16G>A	Asphyxiating thoracic dystrophy 5 [RCV002624526]	uncertain significance	4	39245353	39245353	Human	1	name
156390089	CV1990037	single nucleotide variant	NM_025132.4(WDR19):c.2363+15T>G	Asphyxiating thoracic dystrophy 5 [RCV002604590]	likely benign	4	39234890	39234890	Human	1	name
156050043	CV2006684	single nucleotide variant	NM_025132.4(WDR19):c.3184-14C>G	Asphyxiating thoracic dystrophy 5 [RCV002659335]	likely benign	4	39266049	39266049	Human	1	name
156395661	CV2012240	single nucleotide variant	NM_025132.4(WDR19):c.3483+19C>G	Asphyxiating thoracic dystrophy 5 [RCV002725522]\|Asphyxiating thoracic dystrophy 5 [RCV005034376]	likely benign\|uncertain significance	4	39270119	39270119	Human	1	name
156079984	CV2022674	single nucleotide variant	NM_025132.4(WDR19):c.1982+14C>T	Asphyxiating thoracic dystrophy 5 [RCV002760593]	likely benign	4	39228704	39228704	Human	1	name
156006799	CV2041996	single nucleotide variant	NM_025132.4(WDR19):c.2254-14T>G	Asphyxiating thoracic dystrophy 5 [RCV002756472]	likely benign	4	39234752	39234752	Human	1	name
156118302	CV2043042	single nucleotide variant	NM_025132.4(WDR19):c.3184-11T>C	Asphyxiating thoracic dystrophy 5 [RCV002800122]	likely benign	4	39266052	39266052	Human	1	name
156025798	CV2043478	single nucleotide variant	NM_025132.4(WDR19):c.1249+19G>T	Asphyxiating thoracic dystrophy 5 [RCV002780889]	likely benign	4	39216229	39216229	Human	1	name
156055032	CV2050402	single nucleotide variant	NM_025132.4(WDR19):c.1250-15T>C	Asphyxiating thoracic dystrophy 5 [RCV002796897]	likely benign	4	39217119	39217119	Human	1	name
156113505	CV2058367	single nucleotide variant	NM_025132.4(WDR19):c.3114+15A>T	Asphyxiating thoracic dystrophy 5 [RCV002825018]	likely benign	4	39255975	39255975	Human	1	name
156330312	CV2065213	single nucleotide variant	NM_025132.4(WDR19):c.2364-11T>A	Asphyxiating thoracic dystrophy 5 [RCV002835261]	likely benign\|uncertain significance	4	39240266	39240266	Human	1	name
156069081	CV2065696	single nucleotide variant	NM_025132.4(WDR19):c.1629+13C>T	Asphyxiating thoracic dystrophy 5 [RCV002847018]	likely benign	4	39225046	39225046	Human	1	name
155962071	CV2089129	single nucleotide variant	NM_025132.4(WDR19):c.1135-11C>G	Asphyxiating thoracic dystrophy 5 [RCV002881070]	likely benign	4	39216085	39216085	Human	1	name
156141098	CV2090653	single nucleotide variant	NM_025132.4(WDR19):c.1982+15A>G	Asphyxiating thoracic dystrophy 5 [RCV002890308]	likely benign	4	39228705	39228705	Human	1	name
156107896	CV2096533	single nucleotide variant	NM_025132.4(WDR19):c.3358+15C>G	Asphyxiating thoracic dystrophy 5 [RCV002913657]	likely benign\|uncertain significance	4	39268106	39268106	Human	1	name
156022625	CV2111154	single nucleotide variant	NM_025132.4(WDR19):c.3841-15A>C	Asphyxiating thoracic dystrophy 5 [RCV002909686]	likely benign	4	39278116	39278116	Human	1	name
156027705	CV2116616	single nucleotide variant	NM_025132.4(WDR19):c.2646-15G>A	Asphyxiating thoracic dystrophy 5 [RCV002923369]	likely benign\|uncertain significance	4	39245354	39245354	Human	1	name
155985002	CV2136834	single nucleotide variant	NM_025132.4(WDR19):c.3358+15C>A	Asphyxiating thoracic dystrophy 5 [RCV002996290]	likely benign	4	39268106	39268106	Human	1	name
156229862	CV2140909	single nucleotide variant	NM_025132.4(WDR19):c.3262-19A>G	Asphyxiating thoracic dystrophy 5 [RCV003007701]	likely benign	4	39267976	39267976	Human	1	name
155933612	CV2153298	single nucleotide variant	NM_025132.4(WDR19):c.3565+16C>T	Asphyxiating thoracic dystrophy 5 [RCV003013780]	likely benign	4	39273077	39273077	Human	1	name
156048209	CV2154149	single nucleotide variant	NM_025132.4(WDR19):c.2364-17T>G	Asphyxiating thoracic dystrophy 5 [RCV003019305]	likely benign	4	39240260	39240260	Human	1	name
156302729	CV2166646	single nucleotide variant	NM_025132.4(WDR19):c.1983-18T>C	Asphyxiating thoracic dystrophy 5 [RCV003045629]	likely benign	4	39231779	39231779	Human	1	name
156008324	CV2175705	single nucleotide variant	NM_025132.4(WDR19):c.1356+18G>A	Asphyxiating thoracic dystrophy 5 [RCV003035101]	likely benign	4	39217258	39217258	Human	1	name
156205948	CV2179310	single nucleotide variant	NM_025132.4(WDR19):c.1357-13C>A	Asphyxiating thoracic dystrophy 5 [RCV003024622]	likely benign	4	39217970	39217970	Human	1	name
156343964	CV2186143	deletion	NM_025132.4(WDR19):c.3566-10del	Asphyxiating thoracic dystrophy 5 [RCV003047905]	benign	4	39274795	39274795	Human	1	name
156344731	CV2186232	single nucleotide variant	NM_025132.4(WDR19):c.1357-20T>C	Asphyxiating thoracic dystrophy 5 [RCV003047947]	likely benign	4	39217963	39217963	Human	1	name
156365987	CV2192302	single nucleotide variant	NM_025132.4(WDR19):c.3716+17A>G	Asphyxiating thoracic dystrophy 5 [RCV003065954]	likely benign	4	39274975	39274975	Human	1	name
11548666	CV251478	single nucleotide variant	NM_025132.4(WDR19):c.1357-10T>C	Asphyxiating thoracic dystrophy 5 [RCV000329507]\|Asphyxiating thoracic dystrophy 5 [RCV000549539]\|Connective tissue disorder [RCV002278219]\|Cranioectodermal dysplasia 4 [RCV000274480]\|Nephronophthisis 13 [RCV002244681]\|Senior-Loken syndrome 8 [RCV002244682]\|not provided [RCV001610735]\|not specified ... (more) [RCV000249388]	benign\|likely benign	4	39217973	39217973	Human	5	name
11545673	CV251483	single nucleotide variant	NM_025132.4(WDR19):c.3183+16A>G	Asphyxiating thoracic dystrophy 5 [RCV001515542]\|Asphyxiating thoracic dystrophy 5 [RCV002244691]\|Cranioectodermal dysplasia 4 [RCV002244693]\|Nephronophthisis 13 [RCV002244692]\|Senior-Loken syndrome 8 [RCV002244694]\|not provided [RCV004715805]\|not specified [RCV000245455]	benign	4	39257570	39257570	Human	4	name
11543056	CV251485	single nucleotide variant	NM_025132.4(WDR19):c.3261+12G>A	Asphyxiating thoracic dystrophy 5 [RCV002058360]\|Asphyxiating thoracic dystrophy 5 [RCV002244697]\|Cranioectodermal dysplasia 4 [RCV002244699]\|Nephronophthisis 13 [RCV002244698]\|Senior-Loken syndrome 8 [RCV002244700]\|not specified [RCV000241952]	benign\|likely benign	4	39266152	39266152	Human	4	name
11588504	CV293402	single nucleotide variant	NM_025132.4(WDR19):c.3358+15C>T	Asphyxiating thoracic dystrophy 5 [RCV000303611]\|Asphyxiating thoracic dystrophy 5 [RCV002057927]\|Cranioectodermal dysplasia 4 [RCV000356095]	likely benign\|uncertain significance	4	39268106	39268106	Human	2	name
11587529	CV298384	single nucleotide variant	NM_025132.4(WDR19):c.2142+12G>A	Asphyxiating thoracic dystrophy 5 [RCV000295902]\|Asphyxiating thoracic dystrophy 5 [RCV001514301]\|Asphyxiating thoracic dystrophy 5 [RCV002488767]\|Cranioectodermal dysplasia 4 [RCV000350808]\|Nephronophthisis 13 [RCV002244829]\|Senior-Loken syndrome 8 [RCV002244830]\|not provided [RCV003114504]\|not spe ... (more) cified [RCV001700337]	benign\|likely benign\|uncertain significance	4	39231968	39231968	Human	4	name
11586223	CV298422	single nucleotide variant	NM_025132.4(WDR19):c.1134+13T>G	Asphyxiating thoracic dystrophy 5 [RCV002057926]\|Cranioectodermal dysplasia [RCV000286504]\|Jeune thoracic dystrophy [RCV000380856]	likely benign\|uncertain significance	4	39216026	39216026	Human	3	name
11583482	CV298423	single nucleotide variant	NM_025132.4(WDR19):c.2364-15T>C	Asphyxiating thoracic dystrophy 5 [RCV000266893]\|Asphyxiating thoracic dystrophy 5 [RCV001429588]\|Cranioectodermal dysplasia 4 [RCV000324388]	likely benign\|uncertain significance	4	39240262	39240262	Human	2	name
405029117	CV3082437	single nucleotide variant	NM_025132.4(WDR19):c.3717-15G>A	Asphyxiating thoracic dystrophy 5 [RCV003785888]	likely benign	4	39277005	39277005	Human	1	name
404994961	CV3085327	single nucleotide variant	NM_025132.4(WDR19):c.3566-17C>G	Asphyxiating thoracic dystrophy 5 [RCV003782858]	likely benign	4	39274791	39274791	Human	1	name
402514342	CV3085647	single nucleotide variant	NM_025132.4(WDR19):c.3114+13C>T	Asphyxiating thoracic dystrophy 5 [RCV003780574]	likely benign	4	39255973	39255973	Human	1	name
402523360	CV3086653	deletion	NM_025132.4(WDR19):c.3358+20del	Asphyxiating thoracic dystrophy 5 [RCV003781270]	likely benign	4	39268111	39268111	Human	1	name
402503032	CV3090038	single nucleotide variant	NM_025132.4(WDR19):c.1629+13C>A	Asphyxiating thoracic dystrophy 5 [RCV003788804]	likely benign	4	39225046	39225046	Human	1	name
402488546	CV3094270	single nucleotide variant	NM_025132.4(WDR19):c.2877-13T>G	Asphyxiating thoracic dystrophy 5 [RCV003787312]	likely benign	4	39253893	39253893	Human	1	name
405017770	CV3100780	single nucleotide variant	NM_025132.4(WDR19):c.3358+16G>C	Asphyxiating thoracic dystrophy 5 [RCV003805528]	likely benign	4	39268107	39268107	Human	1	name
405065649	CV3103351	single nucleotide variant	NM_025132.4(WDR19):c.3001+17C>G	Asphyxiating thoracic dystrophy 5 [RCV003799181]	likely benign	4	39254047	39254047	Human	1	name
405172067	CV3104618	single nucleotide variant	NM_025132.4(WDR19):c.2422-13C>T	Asphyxiating thoracic dystrophy 5 [RCV003803116]	likely benign	4	39244235	39244235	Human	1	name
405014650	CV3106651	single nucleotide variant	NM_025132.4(WDR19):c.3918-11C>T	Asphyxiating thoracic dystrophy 5 [RCV003794988]	likely benign	4	39278528	39278528	Human	1	name
405016881	CV3107049	single nucleotide variant	NM_025132.4(WDR19):c.1983-10T>C	Asphyxiating thoracic dystrophy 5 [RCV003795219]	likely benign	4	39231787	39231787	Human	1	name
405053435	CV3107695	single nucleotide variant	NM_025132.4(WDR19):c.3565+17A>G	Asphyxiating thoracic dystrophy 5 [RCV003808440]	likely benign	4	39273078	39273078	Human	1	name
405064185	CV3108857	single nucleotide variant	NM_025132.4(WDR19):c.1479+15C>G	Asphyxiating thoracic dystrophy 5 [RCV003809267]	likely benign	4	39218120	39218120	Human	1	name
405009603	CV3109081	single nucleotide variant	NM_025132.4(WDR19):c.1249+16G>A	Asphyxiating thoracic dystrophy 5 [RCV003804748]	likely benign	4	39216226	39216226	Human	1	name
405110424	CV3110618	single nucleotide variant	NM_025132.4(WDR19):c.1983-11T>C	Asphyxiating thoracic dystrophy 5 [RCV003813521]	likely benign	4	39231786	39231786	Human	1	name
405107906	CV3112198	single nucleotide variant	NM_025132.4(WDR19):c.2730-18T>A	Asphyxiating thoracic dystrophy 5 [RCV003813041]	likely benign	4	39253128	39253128	Human	1	name
405037615	CV3114004	single nucleotide variant	NM_025132.4(WDR19):c.3841-13A>T	Asphyxiating thoracic dystrophy 5 [RCV003807218]	likely benign	4	39278118	39278118	Human	1	name
597743731	CV3721487	single nucleotide variant	NM_025132.4(WDR19):c.2877-13T>C	Asphyxiating thoracic dystrophy 5 [RCV005039120]	uncertain significance	4	39253893	39253893	Human	1	name
597743769	CV3721492	single nucleotide variant	NM_025132.4(WDR19):c.3184-12C>A	Asphyxiating thoracic dystrophy 5 [RCV005039125]	uncertain significance	4	39266051	39266051	Human	1	name
597858852	CV3864847	single nucleotide variant	NM_025132.4(WDR19):c.2142+15A>G	Asphyxiating thoracic dystrophy 5 [RCV005213904]	likely benign	4	39231971	39231971	Human	1	name
597842416	CV3865057	single nucleotide variant	NM_025132.4(WDR19):c.2730-12A>G	Asphyxiating thoracic dystrophy 5 [RCV005211505]	likely benign	4	39253134	39253134	Human	1	name
597897060	CV3865655	single nucleotide variant	NM_025132.4(WDR19):c.1777+18T>A	Asphyxiating thoracic dystrophy 5 [RCV005219633]	likely benign	4	39228375	39228375	Human	1	name
597908962	CV3867123	single nucleotide variant	NM_025132.4(WDR19):c.3261+17C>T	Asphyxiating thoracic dystrophy 5 [RCV005221587]	likely benign	4	39266157	39266157	Human	1	name
597891561	CV3867917	single nucleotide variant	NM_025132.4(WDR19):c.2876+12C>T	Asphyxiating thoracic dystrophy 5 [RCV005218945]	likely benign	4	39253304	39253304	Human	1	name
597868253	CV3869419	single nucleotide variant	NM_025132.4(WDR19):c.3002-17G>A	Asphyxiating thoracic dystrophy 5 [RCV005215350]	likely benign	4	39255831	39255831	Human	1	name
597869743	CV3869601	single nucleotide variant	NM_025132.4(WDR19):c.3261+15G>A	Asphyxiating thoracic dystrophy 5 [RCV005215532]	likely benign	4	39266155	39266155	Human	1	name
597889075	CV3871262	single nucleotide variant	NM_025132.4(WDR19):c.1480-18A>G	Asphyxiating thoracic dystrophy 5 [RCV005218594]	benign	4	39224866	39224866	Human	1	name
597926876	CV3874047	single nucleotide variant	NM_025132.4(WDR19):c.3918-17T>G	Asphyxiating thoracic dystrophy 5 [RCV005224319]	likely benign	4	39278522	39278522	Human	1	name
597844702	CV3875819	single nucleotide variant	NM_025132.4(WDR19):c.3483+10A>G	Asphyxiating thoracic dystrophy 5 [RCV005211901]	likely benign	4	39270110	39270110	Human	1	name
597850264	CV3876944	single nucleotide variant	NM_025132.4(WDR19):c.3359-11C>T	Asphyxiating thoracic dystrophy 5 [RCV005228172]	likely benign	4	39269965	39269965	Human	1	name
597858429	CV3877942	single nucleotide variant	NM_025132.4(WDR19):c.3358+18A>T	Asphyxiating thoracic dystrophy 5 [RCV005229252]	likely benign	4	39268109	39268109	Human	1	name
597931442	CV3878590	single nucleotide variant	NM_025132.4(WDR19):c.3115-17T>C	Asphyxiating thoracic dystrophy 5 [RCV005224960]	likely benign	4	39257469	39257469	Human	1	name
597930166	CV3879207	single nucleotide variant	NM_025132.4(WDR19):c.3717-17A>G	Asphyxiating thoracic dystrophy 5 [RCV005224704]	likely benign	4	39277003	39277003	Human	1	name
597911535	CV3879550	single nucleotide variant	NM_025132.4(WDR19):c.1983-16T>C	Asphyxiating thoracic dystrophy 5 [RCV005221951]	likely benign	4	39231781	39231781	Human	1	name
21405939	CV799355	single nucleotide variant	NM_025132.4(WDR19):c.3115-47T>C	not specified [RCV001001473]	benign	4	39257439	39257439	Human		name
21405940	CV799356	duplication	NM_025132.4(WDR19):c.3716+46dup	Asphyxiating thoracic dystrophy 5 [RCV002245227]\|Cranioectodermal dysplasia 4 [RCV002245229]\|Nephronophthisis 13 [RCV002245228]\|Senior-Loken syndrome 8 [RCV002245230]	benign	4	39275003	39275004	Human	4	name
21405765	CV799357	single nucleotide variant	NM_025132.4(WDR19):c.3917+15C>T	Asphyxiating thoracic dystrophy 5 [RCV002068764]\|not provided [RCV001811588]	likely benign	4	39278222	39278222	Human	1	name
28880435	CV891791	single nucleotide variant	NM_025132.4(WDR19):c.3483+11T>C	Asphyxiating thoracic dystrophy 5 [RCV001149320]\|Asphyxiating thoracic dystrophy 5 [RCV001402985]\|Cranioectodermal dysplasia 4 [RCV001149321]	likely benign\|uncertain significance	4	39270111	39270111	Human	2	name
28880440	CV891792	single nucleotide variant	NM_025132.4(WDR19):c.3484-15T>C	Asphyxiating thoracic dystrophy 5 [RCV001149323]\|Asphyxiating thoracic dystrophy 5 [RCV002070811]\|Cranioectodermal dysplasia 4 [RCV001149322]	likely benign\|uncertain significance	4	39272965	39272965	Human	2	name
38468812	CV960538	single nucleotide variant	NM_025132.4(WDR19):c.2730-10T>A	Asphyxiating thoracic dystrophy 5 [RCV001248101]	likely benign\|uncertain significance	4	39253136	39253136	Human	1	name
8579799	CV114201	single nucleotide variant	NM_025132.3(WDR19):c.2254-503A>T	Lung cancer [RCV000094724]	uncertain significance	4	39234263	39234263	Human		name
8579800	CV114202	single nucleotide variant	NM_025132.3(WDR19):c.2646-236G>T	Lung cancer [RCV000094725]	uncertain significance	4	39245133	39245133	Human		name
150510323	CV1211565	single nucleotide variant	NM_025132.4(WDR19):c.2422-166A>T	not provided [RCV001597357]	benign	4	39244082	39244082	Human		name
150433467	CV1216919	single nucleotide variant	NM_025132.4(WDR19):c.2730-129G>A	not provided [RCV001608821]	benign	4	39253017	39253017	Human		name
150438618	CV1238047	single nucleotide variant	NM_025132.4(WDR19):c.3483+193T>C	not provided [RCV001644545]	benign	4	39270293	39270293	Human		name
150501142	CV1238325	single nucleotide variant	NM_025132.4(WDR19):c.2421+157C>A	not provided [RCV001656755]	benign	4	39240491	39240491	Human		name
150485657	CV1250275	single nucleotide variant	NM_025132.4(WDR19):c.1250-185G>T	not provided [RCV001673888]	benign	4	39216949	39216949	Human		name
150450367	CV1254106	single nucleotide variant	NM_025132.4(WDR19):c.3183+188G>T	not provided [RCV001667744]	benign	4	39257742	39257742	Human		name
150471026	CV1269985	single nucleotide variant	NM_025132.4(WDR19):c.2877-157T>A	not provided [RCV001695272]	benign	4	39253749	39253749	Human		name
598126836	CV3882294	single nucleotide variant	NM_025132.4(WDR19):c.1250-197C>T	not provided [RCV005233845]	uncertain significance	4	39216937	39216937	Human		name
8579801	CV114203	single nucleotide variant	NM_025132.3(WDR19):c.3184-3857C>G	Lung cancer [RCV000094726]	uncertain significance	4	39262206	39262206	Human		name
11646360	CV298440	duplication	NM_025132.4(WDR19):c.293_296dup	Cranioectodermal dysplasia [RCV000270494]\|Jeune thoracic dystrophy [RCV000323251]	uncertain significance	4	39285763	39285764	Human	2	name
597900682	CV3876546	microsatellite	NM_025132.4(WDR19):c.3184-17TC[2]	Asphyxiating thoracic dystrophy 5 [RCV005220244]	likely benign	4	39266046	39266047	Human		name
127313910	CV1135719	deletion	NM_025132.4(WDR19):c.604-5_604-4del	Asphyxiating thoracic dystrophy 5 [RCV001502315]\|WDR19-related disorder [RCV004540460]	likely benign	4	39205149	39205150	Human	2	name , alternate_id
38493805	CV953775	duplication	NM_025132.4(WDR19):c.3913_3917+1dup	Asphyxiating thoracic dystrophy 5 [RCV001240926]	uncertain significance	4	39278200	39278201	Human	1	name
405023552	CV3097608	single nucleotide variant	NM_025132.4(WDR19):c.18A>C (p.Ser6=)	Asphyxiating thoracic dystrophy 5 [RCV003806069]	likely benign	4	39185737	39185737	Human	1	name
405054466	CV3107781	deletion	NM_025132.4(WDR19):c.3304_3358+36del	Asphyxiating thoracic dystrophy 5 [RCV003808526]	likely pathogenic	4	39268036	39268126	Human	1	name
596925196	CV3541801	deletion	NM_025132.4(WDR19):c.406+5_406+11del	Asphyxiating thoracic dystrophy 5 [RCV004795512]	uncertain significance	4	39194661	39194667	Human	1	name
126727808	CV1025850	single nucleotide variant	NM_025132.4(WDR19):c.8G>A (p.Arg3His)	Asphyxiating thoracic dystrophy 5 [RCV001348781]\|Asphyxiating thoracic dystrophy 5 [RCV002476606]	uncertain significance	4	39185727	39185727	Human	1	name
127266465	CV1093267	single nucleotide variant	NM_025132.4(WDR19):c.75A>G (p.Ser25=)	Asphyxiating thoracic dystrophy 5 [RCV001440242]	likely benign	4	39185794	39185794	Human	1	name
127296578	CV1114801	single nucleotide variant	NM_025132.4(WDR19):c.78A>G (p.Gly26=)	Asphyxiating thoracic dystrophy 5 [RCV001460029]	likely benign	4	39185797	39185797	Human	1	name
127320424	CV1135718	single nucleotide variant	NM_025132.4(WDR19):c.81C>T (p.Asn27=)	Asphyxiating thoracic dystrophy 5 [RCV001504381]	likely benign	4	39185800	39185800	Human	1	name
151829575	CV1491533	single nucleotide variant	NM_025132.4(WDR19):c.2T>C (p.Met1Thr)	Asphyxiating thoracic dystrophy 5 [RCV002030665]	uncertain significance	4	39182559	39182559	Human	1	name
152161423	CV1531111	single nucleotide variant	NM_025132.4(WDR19):c.42C>T (p.Gly14=)	Asphyxiating thoracic dystrophy 5 [RCV002123266]\|Asphyxiating thoracic dystrophy 5 [RCV002500194]\|WDR19-related disorder [RCV004531459]	likely benign	4	39185761	39185761	Human	5	name , alternate_id
152097934	CV1542342	deletion	NM_025132.4(WDR19):c.2876+7_2876+8del	Asphyxiating thoracic dystrophy 5 [RCV002195166]	likely benign	4	39253298	39253299	Human	1	name
152169044	CV1598477	deletion	NM_025132.4(WDR19):c.164+20_164+32del	Asphyxiating thoracic dystrophy 5 [RCV002142656]	likely benign	4	39186623	39186635	Human	1	name
155642351	CV1707345	deletion	NM_025132.4(WDR19):c.2363+3_2363+6del	Senior-Loken syndrome 8 [RCV002288275]	likely pathogenic	4	39234876	39234879	Human	1	name
156092608	CV2102746	single nucleotide variant	NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)	Asphyxiating thoracic dystrophy 5 [RCV002913094]	uncertain significance	4	39185726	39185726	Human	1	name
405156675	CV3110503	deletion	NM_025132.4(WDR19):c.2364-5_2364-4del	Asphyxiating thoracic dystrophy 5 [RCV003818024]	benign	4	39240265	39240266	Human	1	name
597847407	CV3872690	single nucleotide variant	NM_025132.4(WDR19):c.4A>G (p.Lys2Glu)	Asphyxiating thoracic dystrophy 5 [RCV005212326]	uncertain significance	4	39182561	39182561	Human	1	name
38462846	CV920203	deletion	NM_025132.4(WDR19):c.291-12_291-11del	Cranioectodermal dysplasia 4 [RCV001197074]	uncertain significance	4	39194532	39194533	Human	1	name
127274783	CV1071637	single nucleotide variant	NM_025132.4(WDR19):c.228T>C (p.Ser76=)	Asphyxiating thoracic dystrophy 5 [RCV001406446]	likely benign	4	39189719	39189719	Human	1	name
151732743	CV1509800	single nucleotide variant	NM_025132.4(WDR19):c.11T>C (p.Ile4Thr)	Asphyxiating thoracic dystrophy 5 [RCV001892427]	uncertain significance	4	39185730	39185730	Human	1	name
151868788	CV1516679	indel	NM_025132.4(WDR19):c.891-1_891delinsAT	Asphyxiating thoracic dystrophy 5 [RCV001981036]	likely pathogenic	4	39214600	39214601	Human		name
152159689	CV1522692	single nucleotide variant	NM_025132.4(WDR19):c.141A>G (p.Lys47=)	Asphyxiating thoracic dystrophy 5 [RCV002140703]	likely benign	4	39186581	39186581	Human	1	name
152127292	CV1572066	single nucleotide variant	NM_025132.4(WDR19):c.198A>G (p.Gly66=)	Asphyxiating thoracic dystrophy 5 [RCV002217585]	likely benign	4	39189689	39189689	Human	1	name
152095174	CV1599578	single nucleotide variant	NM_025132.4(WDR19):c.153T>A (p.Ile51=)	Asphyxiating thoracic dystrophy 5 [RCV002094740]	likely benign	4	39186593	39186593	Human	1	name
152050667	CV1606959	single nucleotide variant	NM_025132.4(WDR19):c.234C>T (p.Cys78=)	Asphyxiating thoracic dystrophy 5 [RCV002108927]	likely benign	4	39189725	39189725	Human	1	name
156033392	CV1889960	single nucleotide variant	NM_025132.4(WDR19):c.252C>A (p.Ala84=)	Asphyxiating thoracic dystrophy 5 [RCV003078208]	likely benign	4	39189743	39189743	Human	1	name
156232949	CV2112575	single nucleotide variant	NM_025132.4(WDR19):c.282T>C (p.Asn94=)	Asphyxiating thoracic dystrophy 5 [RCV002932905]	likely benign	4	39189773	39189773	Human	1	name
11593315	CV294761	single nucleotide variant	NM_025132.4(WDR19):c.198A>T (p.Gly66=)	Asphyxiating thoracic dystrophy 5 [RCV000347534]\|Asphyxiating thoracic dystrophy 5 [RCV002520238]\|Cranioectodermal dysplasia 4 [RCV000395136]	likely benign\|uncertain significance	4	39189689	39189689	Human	2	name
597655166	CV3721431	single nucleotide variant	NM_025132.4(WDR19):c.165T>G (p.Gly55=)	Asphyxiating thoracic dystrophy 5 [RCV005027335]	uncertain significance	4	39189656	39189656	Human	1	name
597743611	CV3721470	deletion	NM_025132.4(WDR19):c.2364-13_2364-9del	Asphyxiating thoracic dystrophy 5 [RCV005039103]	uncertain significance	4	39240262	39240266	Human	1	name
597841590	CV3868302	single nucleotide variant	NM_025132.4(WDR19):c.174T>G (p.Val58=)	Asphyxiating thoracic dystrophy 5 [RCV005211335]	likely benign	4	39189665	39189665	Human	1	name
597848851	CV3872885	single nucleotide variant	NM_025132.4(WDR19):c.219T>C (p.Ala73=)	Asphyxiating thoracic dystrophy 5 [RCV005212522]	likely benign	4	39189710	39189710	Human	1	name
597843348	CV3878450	single nucleotide variant	NM_025132.4(WDR19):c.255C>T (p.Asn85=)	Asphyxiating thoracic dystrophy 5 [RCV005226940]	likely benign	4	39189746	39189746	Human	1	name
8568525	CV39662	single nucleotide variant	NM_025132.4(WDR19):c.20T>C (p.Leu7Pro)	Asphyxiating thoracic dystrophy 5 [RCV000023683]	pathogenic	4	39185739	39185739	Human	1	name
13799208	CV553585	single nucleotide variant	NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)	Asphyxiating thoracic dystrophy 5 [RCV001212612]\|Asphyxiating thoracic dystrophy 5 [RCV005027838]\|Retinal dystrophy [RCV001074270]\|Senior-Loken syndrome 8 [RCV003319401]\|not provided [RCV000681867]	pathogenic\|likely pathogenic\|uncertain significance	4	39185733	39185733	Human	4	name
15160610	CV734629	single nucleotide variant	NM_025132.4(WDR19):c.243T>C (p.Leu81=)	Asphyxiating thoracic dystrophy 5 [RCV000903179]	likely benign	4	39189734	39189734	Human	1	name
28878963	CV890633	single nucleotide variant	NM_025132.4(WDR19):c.171T>C (p.Cys57=)	Asphyxiating thoracic dystrophy 5 [RCV001148844]\|Cranioectodermal dysplasia 4 [RCV001148845]	uncertain significance	4	39189662	39189662	Human	2	name
38470211	CV932317	single nucleotide variant	NM_025132.4(WDR19):c.270C>T (p.Ser90=)	Asphyxiating thoracic dystrophy 5 [RCV001202535]	likely benign\|uncertain significance	4	39189761	39189761	Human	1	name
127246430	CV1093268	single nucleotide variant	NM_025132.4(WDR19):c.795T>C (p.Gly265=)	Asphyxiating thoracic dystrophy 5 [RCV001435410]\|WDR19-related disorder [RCV004540323]	likely benign	4	39205641	39205641	Human	2	name , alternate_id
127310760	CV1114802	single nucleotide variant	NM_025132.4(WDR19):c.513G>T (p.Thr171=)	Asphyxiating thoracic dystrophy 5 [RCV001456692]\|Asphyxiating thoracic dystrophy 5 [RCV002501600]	likely benign	4	39199584	39199584	Human	1	name
127324411	CV1135720	single nucleotide variant	NM_025132.4(WDR19):c.609T>C (p.Ser203=)	Asphyxiating thoracic dystrophy 5 [RCV001505662]	likely benign	4	39205159	39205159	Human	1	name
150502434	CV1241252	duplication	NM_025132.4(WDR19):c.3114+59_3114+90dup	not provided [RCV001657148]	benign	4	39255995	39255996	Human		name
150547080	CV1314043	duplication	NM_025132.4(WDR19):c.248dup (p.Asp83fs)	not provided [RCV001785136]	pathogenic	4	39189738	39189739	Human		name
151235714	CV1318709	single nucleotide variant	NM_025132.4(WDR19):c.916T>C (p.Leu306=)	Asphyxiating thoracic dystrophy 5 [RCV002077225]\|not provided [RCV001796929]\|not specified [RCV001795526]	benign\|likely benign	4	39214626	39214626	Human	1	name
151826801	CV1422236	single nucleotide variant	NM_025132.4(WDR19):c.65A>C (p.Gln22Pro)	Asphyxiating thoracic dystrophy 5 [RCV001955287]	uncertain significance	4	39185784	39185784	Human	1	name
151871869	CV1436679	single nucleotide variant	NM_025132.4(WDR19):c.77G>C (p.Gly26Ala)	Asphyxiating thoracic dystrophy 5 [RCV001998451]	uncertain significance	4	39185796	39185796	Human	1	name
151850508	CV1448411	single nucleotide variant	NM_025132.4(WDR19):c.621C>T (p.Gly207=)	Asphyxiating thoracic dystrophy 5 [RCV001957919]	uncertain significance	4	39205171	39205171	Human	1	name
151737327	CV1463764	single nucleotide variant	NM_025132.4(WDR19):c.43G>A (p.Ala15Thr)	Asphyxiating thoracic dystrophy 5 [RCV001911558]	uncertain significance	4	39185762	39185762	Human	1	name
152160466	CV1522862	deletion	NM_025132.4(WDR19):c.2729+24_2729+33del	Asphyxiating thoracic dystrophy 5 [RCV002140831]	likely benign	4	39245470	39245479	Human	1	name
152143413	CV1526839	single nucleotide variant	NM_025132.4(WDR19):c.798A>G (p.Gln266=)	Asphyxiating thoracic dystrophy 5 [RCV002084466]	likely benign	4	39205644	39205644	Human	1	name
152039344	CV1555307	single nucleotide variant	NM_025132.4(WDR19):c.426C>T (p.Ile142=)	Asphyxiating thoracic dystrophy 5 [RCV002107503]	likely benign	4	39199497	39199497	Human	1	name
152112804	CV1586453	single nucleotide variant	NM_025132.4(WDR19):c.462T>C (p.Ala154=)	Asphyxiating thoracic dystrophy 5 [RCV002197006]	likely benign	4	39199533	39199533	Human	1	name
152080854	CV1663710	single nucleotide variant	NM_025132.4(WDR19):c.930T>C (p.Tyr310=)	Asphyxiating thoracic dystrophy 5 [RCV002149290]	likely benign	4	39214640	39214640	Human	1	name
155932349	CV1919630	single nucleotide variant	NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)	Asphyxiating thoracic dystrophy 5 [RCV002615071]	uncertain significance	4	39185772	39185772	Human	1	name
10050998	CV192782	deletion	NM_025132.4(WDR19):c.2364-15_2364-14del	Asphyxiating thoracic dystrophy 5 [RCV001518883]\|Cranioectodermal dysplasia [RCV000363934]\|Jeune thoracic dystrophy [RCV000306929]\|not provided [RCV000176229]	benign\|uncertain significance	4	39240262	39240263	Human	3	name
156050634	CV1931862	single nucleotide variant	NM_025132.4(WDR19):c.768C>G (p.Val256=)	Asphyxiating thoracic dystrophy 5 [RCV002620593]	likely benign	4	39205614	39205614	Human	1	name
156032937	CV1932478	single nucleotide variant	NM_025132.4(WDR19):c.768C>T (p.Val256=)	Asphyxiating thoracic dystrophy 5 [RCV002637246]	likely benign	4	39205614	39205614	Human	1	name
156318912	CV2014328	single nucleotide variant	NM_025132.4(WDR19):c.82T>C (p.Tyr28His)	Asphyxiating thoracic dystrophy 5 [RCV002672064]	uncertain significance	4	39185801	39185801	Human	1	name
156118721	CV2055202	single nucleotide variant	NM_025132.4(WDR19):c.456G>T (p.Leu152=)	Asphyxiating thoracic dystrophy 5 [RCV002825215]	likely benign	4	39199527	39199527	Human	1	name
156039025	CV2150412	single nucleotide variant	NM_025132.4(WDR19):c.696C>T (p.Gly232=)	Asphyxiating thoracic dystrophy 5 [RCV003018985]	uncertain significance	4	39205246	39205246	Human	1	name
156352195	CV2190420	deletion	NM_025132.4(WDR19):c.3358+18_3358+19del	Asphyxiating thoracic dystrophy 5 [RCV003048420]	likely benign	4	39268108	39268109	Human	1	name
156303768	CV2258911	single nucleotide variant	NM_025132.4(WDR19):c.73T>C (p.Ser25Pro)	Inborn genetic diseases [RCV002808342]	uncertain significance	4	39185792	39185792	Human	1	name
11550866	CV251474	single nucleotide variant	NM_025132.4(WDR19):c.852A>G (p.Ser284=)	Asphyxiating thoracic dystrophy 5 [RCV000263260]\|Asphyxiating thoracic dystrophy 5 [RCV001518716]\|Cranioectodermal dysplasia 4 [RCV000357935]\|Nephronophthisis 13 [RCV002244701]\|Senior-Loken syndrome 8 [RCV002244702]\|not provided [RCV001689917]\|not specified [RCV000252308]	benign\|likely benign	4	39205698	39205698	Human	4	name
11543605	CV251475	single nucleotide variant	NM_025132.4(WDR19):c.891C>T (p.Cys297=)	Asphyxiating thoracic dystrophy 5 [RCV000299540]\|Asphyxiating thoracic dystrophy 5 [RCV001515541]\|Cranioectodermal dysplasia 4 [RCV000354362]\|Nephronophthisis 13 [RCV002244703]\|Senior-Loken syndrome 8 [RCV002244704]\|not provided [RCV001711734]\|not specified [RCV000242684]	benign	4	39214601	39214601	Human	4	name
11652126	CV298420	single nucleotide variant	NM_025132.4(WDR19):c.750A>T (p.Ser250=)	Asphyxiating thoracic dystrophy 5 [RCV000399514]\|Cranioectodermal dysplasia 4 [RCV000303258]	uncertain significance	4	39205596	39205596	Human	2	name
404997140	CV3085451	deletion	NM_025132.4(WDR19):c.3001+15_3001+16del	Asphyxiating thoracic dystrophy 5 [RCV003782982]	likely benign	4	39254041	39254042	Human	1	name
402508720	CV3088835	single nucleotide variant	NM_025132.4(WDR19):c.558T>C (p.Phe186=)	Asphyxiating thoracic dystrophy 5 [RCV003780039]	likely benign	4	39203677	39203677	Human	1	name
405008535	CV3096272	single nucleotide variant	NM_025132.4(WDR19):c.654A>G (p.Glu218=)	Asphyxiating thoracic dystrophy 5 [RCV003794422]	likely benign	4	39205204	39205204	Human	1	name
405075791	CV3100279	single nucleotide variant	NM_025132.4(WDR19):c.333C>T (p.Phe111=)	Asphyxiating thoracic dystrophy 5 [RCV003799832]	likely benign	4	39194586	39194586	Human	1	name
404977349	CV3102669	single nucleotide variant	NM_025132.4(WDR19):c.384A>G (p.Thr128=)	Asphyxiating thoracic dystrophy 5 [RCV003790763]	likely benign	4	39194637	39194637	Human	1	name
405094399	CV3105531	deletion	NM_025132.4(WDR19):c.2562+19_2562+28del	Asphyxiating thoracic dystrophy 5 [RCV003801248]	uncertain significance	4	39244404	39244413	Human	1	name
405078287	CV3114662	single nucleotide variant	NM_025132.4(WDR19):c.918A>G (p.Leu306=)	Asphyxiating thoracic dystrophy 5 [RCV003810225]	likely benign	4	39214628	39214628	Human	1	name
405802278	CV3349171	single nucleotide variant	NM_025132.4(WDR19):c.59C>T (p.Ala20Val)	Inborn genetic diseases [RCV004478246]	uncertain significance	4	39185778	39185778	Human	1	name
597630526	CV3633472	single nucleotide variant	NM_025132.4(WDR19):c.61T>C (p.Trp21Arg)	Inborn genetic diseases [RCV004967338]	uncertain significance	4	39185780	39185780	Human	1	name
597655113	CV3721426	single nucleotide variant	NM_025132.4(WDR19):c.40G>A (p.Gly14Ser)	Asphyxiating thoracic dystrophy 5 [RCV005027330]	uncertain significance	4	39185759	39185759	Human	1	name
597920661	CV3865501	single nucleotide variant	NM_025132.4(WDR19):c.393G>A (p.Lys131=)	Asphyxiating thoracic dystrophy 5 [RCV005223445]	likely benign	4	39194646	39194646	Human	1	name
597868307	CV3869426	single nucleotide variant	NM_025132.4(WDR19):c.414T>C (p.His138=)	Asphyxiating thoracic dystrophy 5 [RCV005215357]	likely benign	4	39199485	39199485	Human	1	name
597853317	CV3869801	single nucleotide variant	NM_025132.4(WDR19):c.447A>G (p.Ala149=)	Asphyxiating thoracic dystrophy 5 [RCV005213086]	likely benign	4	39199518	39199518	Human	1	name
597856776	CV3870815	microsatellite	NM_025132.4(WDR19):c.2364-16_2364-15del	Asphyxiating thoracic dystrophy 5 [RCV005229018]	likely benign	4	39240259	39240260	Human		name
597878264	CV3871873	single nucleotide variant	NM_025132.4(WDR19):c.657A>G (p.Pro219=)	Asphyxiating thoracic dystrophy 5 [RCV005216924]	likely benign	4	39205207	39205207	Human	1	name
597912335	CV3879667	single nucleotide variant	NM_025132.4(WDR19):c.993C>G (p.Gly331=)	Asphyxiating thoracic dystrophy 5 [RCV005222068]	likely benign	4	39215872	39215872	Human	1	name
597914622	CV3880157	single nucleotide variant	NM_025132.4(WDR19):c.513G>A (p.Thr171=)	Asphyxiating thoracic dystrophy 5 [RCV005222397]	likely benign	4	39199584	39199584	Human	1	name
14393029	CV549469	single nucleotide variant	NM_025132.4(WDR19):c.56T>G (p.Phe19Cys)	Asphyxiating thoracic dystrophy 5 [RCV001236163]\|Cranioectodermal dysplasia 4 [RCV002225112]\|Jeune thoracic dystrophy [RCV000754961]	uncertain significance	4	39185775	39185775	Human	3	name
14394005	CV609537	single nucleotide variant	NM_025132.4(WDR19):c.765G>C (p.Val255=)	Asphyxiating thoracic dystrophy 5 [RCV001473684]\|WDR19-related disorder [RCV004540079]\|not provided [RCV001811470]	likely benign	4	39205611	39205611	Human	2	name , alternate_id
15176395	CV709358	single nucleotide variant	NM_025132.4(WDR19):c.783T>C (p.Thr261=)	Asphyxiating thoracic dystrophy 5 [RCV001408652]	likely benign	4	39205629	39205629	Human	1	name
15182860	CV734630	single nucleotide variant	NM_025132.4(WDR19):c.501G>A (p.Gln167=)	not provided [RCV000907927]	likely benign	4	39199572	39199572	Human		name
15147105	CV748936	single nucleotide variant	NM_025132.4(WDR19):c.438T>C (p.Cys146=)	Asphyxiating thoracic dystrophy 5 [RCV002065981]	likely benign	4	39199509	39199509	Human	1	name
25317877	CV805397	duplication	NM_025132.4(WDR19):c.142dup (p.Arg48fs)	Asphyxiating thoracic dystrophy 5 [RCV003769411]\|not provided [RCV001008288]	pathogenic\|likely pathogenic	4	39186576	39186577	Human	1	name
28904005	CV890637	single nucleotide variant	NM_025132.4(WDR19):c.822T>C (p.His274=)	Asphyxiating thoracic dystrophy 5 [RCV001144283]\|Asphyxiating thoracic dystrophy 5 [RCV002070740]\|Cranioectodermal dysplasia 4 [RCV001144284]	likely benign\|uncertain significance	4	39205668	39205668	Human	2	name
126768211	CV1025854	single nucleotide variant	NM_025132.4(WDR19):c.1716A>G (p.Val572=)	Asphyxiating thoracic dystrophy 5 [RCV001343214]\|Asphyxiating thoracic dystrophy 5 [RCV005038104]	uncertain significance	4	39228296	39228296	Human	1	name
126922104	CV1042757	single nucleotide variant	NM_025132.4(WDR19):c.1488C>A (p.Val496=)	Asphyxiating thoracic dystrophy 5 [RCV001364276]	likely benign\|uncertain significance	4	39224892	39224892	Human	1	name
127233793	CV1071641	single nucleotide variant	NM_025132.4(WDR19):c.1377T>C (p.Asp459=)	Asphyxiating thoracic dystrophy 5 [RCV001414048]	likely benign	4	39218003	39218003	Human	1	name
127274795	CV1071642	single nucleotide variant	NM_025132.4(WDR19):c.1752T>C (p.Tyr584=)	Asphyxiating thoracic dystrophy 5 [RCV001406454]\|Asphyxiating thoracic dystrophy 5 [RCV002488222]	likely benign	4	39228332	39228332	Human	1	name
127238776	CV1071643	single nucleotide variant	NM_025132.4(WDR19):c.1782C>A (p.Ala594=)	Asphyxiating thoracic dystrophy 5 [RCV001397387]	likely benign	4	39228490	39228490	Human	1	name
127279512	CV1071644	single nucleotide variant	NM_025132.4(WDR19):c.2247C>T (p.Ala749=)	Asphyxiating thoracic dystrophy 5 [RCV001409185]	likely benign	4	39232266	39232266	Human	1	name
127247050	CV1071646	single nucleotide variant	NM_025132.4(WDR19):c.2415T>C (p.Asp805=)	Asphyxiating thoracic dystrophy 5 [RCV001399075]	likely benign	4	39240328	39240328	Human	1	name
127254817	CV1093269	single nucleotide variant	NM_025132.4(WDR19):c.1041G>A (p.Leu347=)	Asphyxiating thoracic dystrophy 5 [RCV001426381]	likely benign	4	39215920	39215920	Human	1	name
127248442	CV1093270	single nucleotide variant	NM_025132.4(WDR19):c.1086C>T (p.Ala362=)	Asphyxiating thoracic dystrophy 5 [RCV001424929]	likely benign	4	39215965	39215965	Human	1	name
127275776	CV1093271	single nucleotide variant	NM_025132.4(WDR19):c.1269T>C (p.Asp423=)	Asphyxiating thoracic dystrophy 5 [RCV001432515]	likely benign	4	39217153	39217153	Human	1	name
127275435	CV1093272	single nucleotide variant	NM_025132.4(WDR19):c.1542T>C (p.Pro514=)	Asphyxiating thoracic dystrophy 5 [RCV001443324]	likely benign	4	39224946	39224946	Human	1	name
127249604	CV1093273	single nucleotide variant	NM_025132.4(WDR19):c.1638C>T (p.Asp546=)	Asphyxiating thoracic dystrophy 5 [RCV001425170]	likely benign	4	39228218	39228218	Human	1	name
127272843	CV1093274	single nucleotide variant	NM_025132.4(WDR19):c.1962A>G (p.Ala654=)	Asphyxiating thoracic dystrophy 5 [RCV001431426]\|Asphyxiating thoracic dystrophy 5 [RCV002504710]	likely benign	4	39228670	39228670	Human	1	name
127265746	CV1093275	single nucleotide variant	NM_025132.4(WDR19):c.2007C>T (p.Cys669=)	Asphyxiating thoracic dystrophy 5 [RCV001429183]	likely benign	4	39231821	39231821	Human	1	name
127326642	CV1114804	single nucleotide variant	NM_025132.4(WDR19):c.2151G>A (p.Glu717=)	Asphyxiating thoracic dystrophy 5 [RCV001468823]\|not provided [RCV001726563]\|not specified [RCV001699791]	benign\|likely benign	4	39232170	39232170	Human	1	name
127301634	CV1114805	single nucleotide variant	NM_025132.4(WDR19):c.2973C>T (p.Asn991=)	Asphyxiating thoracic dystrophy 5 [RCV001461445]	likely benign	4	39254002	39254002	Human	1	name
127310945	CV1135721	single nucleotide variant	NM_025132.4(WDR19):c.1350A>G (p.Leu450=)	Asphyxiating thoracic dystrophy 5 [RCV001481296]\|Asphyxiating thoracic dystrophy 5 [RCV002501660]	likely benign	4	39217234	39217234	Human	1	name
127285960	CV1135722	single nucleotide variant	NM_025132.4(WDR19):c.1488C>T (p.Val496=)	Asphyxiating thoracic dystrophy 5 [RCV001493915]	likely benign	4	39224892	39224892	Human	1	name
127318873	CV1135723	single nucleotide variant	NM_025132.4(WDR19):c.1740G>A (p.Lys580=)	Asphyxiating thoracic dystrophy 5 [RCV001483644]	likely benign	4	39228320	39228320	Human	1	name
127312479	CV1135724	single nucleotide variant	NM_025132.4(WDR19):c.1881A>T (p.Val627=)	Asphyxiating thoracic dystrophy 5 [RCV001501935]	likely benign	4	39228589	39228589	Human	1	name
127301446	CV1135726	single nucleotide variant	NM_025132.4(WDR19):c.2274T>C (p.His758=)	Asphyxiating thoracic dystrophy 5 [RCV001498840]	likely benign	4	39234786	39234786	Human	1	name
127311306	CV1135728	single nucleotide variant	NM_025132.4(WDR19):c.2454C>T (p.Ala818=)	Asphyxiating thoracic dystrophy 5 [RCV001481407]\|not provided [RCV001528707]\|not specified [RCV001699553]	benign\|likely benign	4	39244280	39244280	Human	1	name
127329635	CV1135729	single nucleotide variant	NM_025132.4(WDR19):c.2607C>T (p.Tyr869=)	Asphyxiating thoracic dystrophy 5 [RCV001487560]\|Asphyxiating thoracic dystrophy 5 [RCV002501675]	likely benign	4	39244514	39244514	Human	1	name
127299279	CV1154783	single nucleotide variant	NM_025132.4(WDR19):c.1039C>T (p.Leu347=)	Asphyxiating thoracic dystrophy 5 [RCV001513614]\|Asphyxiating thoracic dystrophy 5 [RCV002506604]\|WDR19-related disorder [RCV004533926]\|not provided [RCV004716723]	benign\|likely benign	4	39215918	39215918	Human	5	name , alternate_id
8657808	CV132652	duplication	NM_025132.4(WDR19):c.641dup (p.Leu214fs)	Asphyxiating thoracic dystrophy 5 [RCV001854542]\|Asphyxiating thoracic dystrophy 5 [RCV002498492]\|Senior-Loken syndrome 8 [RCV000115010]	pathogenic	4	39205183	39205184	Human	2	name
151827908	CV1348163	single nucleotide variant	NM_025132.4(WDR19):c.1749T>G (p.Thr583=)	Asphyxiating thoracic dystrophy 5 [RCV001870243]	likely benign\|uncertain significance	4	39228329	39228329	Human	1	name
151825227	CV1373409	single nucleotide variant	NM_025132.4(WDR19):c.197G>A (p.Gly66Glu)	Asphyxiating thoracic dystrophy 5 [RCV001934527]	uncertain significance	4	39189688	39189688	Human	1	name
151732602	CV1386396	single nucleotide variant	NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001911034]\|WDR19-related disorder [RCV004529036]	uncertain significance	4	39194545	39194545	Human	2	name , alternate_id
151889330	CV1398775	single nucleotide variant	NM_025132.4(WDR19):c.200A>G (p.Asp67Gly)	Asphyxiating thoracic dystrophy 5 [RCV001942780]\|Asphyxiating thoracic dystrophy 5 [RCV005023324]	uncertain significance	4	39189691	39189691	Human	1	name
151858879	CV1403587	single nucleotide variant	NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001996873]	uncertain significance	4	39189724	39189724	Human	1	name
151846302	CV1405703	single nucleotide variant	NM_025132.4(WDR19):c.2385G>A (p.Leu795=)	Asphyxiating thoracic dystrophy 5 [RCV001903480]	likely benign\|uncertain significance	4	39240298	39240298	Human	1	name
151766724	CV1410253	duplication	NM_025132.4(WDR19):c.632dup (p.Leu211fs)	Asphyxiating thoracic dystrophy 5 [RCV001987849]	pathogenic	4	39205179	39205180	Human	1	name
151812524	CV1417622	single nucleotide variant	NM_025132.4(WDR19):c.1323T>A (p.Ala441=)	Asphyxiating thoracic dystrophy 5 [RCV002029112]	likely benign\|uncertain significance	4	39217207	39217207	Human	1	name
151740712	CV1455368	single nucleotide variant	NM_025132.4(WDR19):c.186G>C (p.Trp62Cys)	Asphyxiating thoracic dystrophy 5 [RCV002005794]	uncertain significance	4	39189677	39189677	Human	1	name
151738261	CV1458211	single nucleotide variant	NM_025132.4(WDR19):c.234C>A (p.Cys78Ter)	Asphyxiating thoracic dystrophy 5 [RCV001946837]	pathogenic	4	39189725	39189725	Human	1	name
151835979	CV1472834	single nucleotide variant	NM_025132.4(WDR19):c.1182A>G (p.Ala394=)	Asphyxiating thoracic dystrophy 5 [RCV002051209]	uncertain significance	4	39216143	39216143	Human	1	name
151770747	CV1481797	single nucleotide variant	NM_025132.4(WDR19):c.288G>A (p.Met96Ile)	Asphyxiating thoracic dystrophy 5 [RCV002008817]\|not provided [RCV003120795]	uncertain significance	4	39189779	39189779	Human	1	name
151767101	CV1492887	single nucleotide variant	NM_025132.4(WDR19):c.1581C>G (p.Thr527=)	Asphyxiating thoracic dystrophy 5 [RCV001914616]	likely benign	4	39224985	39224985	Human	1	name
151767107	CV1496133	single nucleotide variant	NM_025132.4(WDR19):c.277G>C (p.Asp93His)	Asphyxiating thoracic dystrophy 5 [RCV001863719]	uncertain significance	4	39189768	39189768	Human	1	name
152081726	CV1526073	single nucleotide variant	NM_025132.4(WDR19):c.1431T>C (p.Arg477=)	Asphyxiating thoracic dystrophy 5 [RCV002170623]	likely benign	4	39218057	39218057	Human	1	name
152077317	CV1531303	single nucleotide variant	NM_025132.4(WDR19):c.2490G>T (p.Gly830=)	Asphyxiating thoracic dystrophy 5 [RCV002210768]	likely benign	4	39244316	39244316	Human	1	name
152084386	CV1537497	single nucleotide variant	NM_025132.4(WDR19):c.1125T>G (p.Pro375=)	Asphyxiating thoracic dystrophy 5 [RCV002149729]	likely benign	4	39216004	39216004	Human	1	name
152065652	CV1539807	single nucleotide variant	NM_025132.4(WDR19):c.2076G>A (p.Glu692=)	Asphyxiating thoracic dystrophy 5 [RCV002147387]	likely benign	4	39231890	39231890	Human	1	name
152121610	CV1547602	single nucleotide variant	NM_025132.4(WDR19):c.1791T>C (p.Ile597=)	Asphyxiating thoracic dystrophy 5 [RCV002081628]\|Asphyxiating thoracic dystrophy 5 [RCV002500108]	likely benign	4	39228499	39228499	Human	1	name
152040548	CV1553294	single nucleotide variant	NM_025132.4(WDR19):c.1722T>A (p.Ile574=)	Asphyxiating thoracic dystrophy 5 [RCV002087897]	likely benign	4	39228302	39228302	Human	1	name
152139658	CV1562856	single nucleotide variant	NM_025132.4(WDR19):c.2097G>A (p.Arg699=)	Asphyxiating thoracic dystrophy 5 [RCV002100595]	likely benign	4	39231911	39231911	Human	1	name
152149004	CV1566434	single nucleotide variant	NM_025132.4(WDR19):c.2298A>G (p.Ala766=)	Asphyxiating thoracic dystrophy 5 [RCV002139233]	likely benign	4	39234810	39234810	Human	1	name
152033165	CV1567996	single nucleotide variant	NM_025132.4(WDR19):c.1485T>G (p.Gly495=)	Asphyxiating thoracic dystrophy 5 [RCV002205121]	likely benign	4	39224889	39224889	Human	1	name
152068056	CV1571110	single nucleotide variant	NM_025132.4(WDR19):c.2220C>T (p.Tyr740=)	Asphyxiating thoracic dystrophy 5 [RCV002129236]\|WDR19-related disorder [RCV004543886]	likely benign	4	39232239	39232239	Human	2	name , alternate_id
152033893	CV1573118	single nucleotide variant	NM_025132.4(WDR19):c.2766A>G (p.Lys922=)	Asphyxiating thoracic dystrophy 5 [RCV002187169]	likely benign	4	39253182	39253182	Human	1	name
152132491	CV1585088	single nucleotide variant	NM_025132.4(WDR19):c.2055T>C (p.Cys685=)	Asphyxiating thoracic dystrophy 5 [RCV002083055]	likely benign	4	39231869	39231869	Human	1	name
152159884	CV1588309	single nucleotide variant	NM_025132.4(WDR19):c.2706C>T (p.Ala902=)	Asphyxiating thoracic dystrophy 5 [RCV002180745]\|not provided [RCV004711755]	likely benign	4	39245429	39245429	Human	1	name
152153736	CV1592900	single nucleotide variant	NM_025132.4(WDR19):c.1530T>C (p.Asp510=)	Asphyxiating thoracic dystrophy 5 [RCV002202371]	likely benign	4	39224934	39224934	Human	1	name
152159165	CV1595329	single nucleotide variant	NM_025132.4(WDR19):c.1443T>C (p.His481=)	Asphyxiating thoracic dystrophy 5 [RCV002103464]	likely benign	4	39218069	39218069	Human	1	name
152045428	CV1614184	single nucleotide variant	NM_025132.4(WDR19):c.2370T>C (p.Asp790=)	Asphyxiating thoracic dystrophy 5 [RCV002166220]	likely benign	4	39240283	39240283	Human	1	name
152156292	CV1626935	single nucleotide variant	NM_025132.4(WDR19):c.1875A>G (p.Gly625=)	Asphyxiating thoracic dystrophy 5 [RCV002103001]	likely benign	4	39228583	39228583	Human	1	name
152098720	CV1627126	single nucleotide variant	NM_025132.4(WDR19):c.1836G>T (p.Leu612=)	Asphyxiating thoracic dystrophy 5 [RCV002095221]	likely benign	4	39228544	39228544	Human	1	name
152982077	CV1679037	deletion	NM_025132.4(WDR19):c.956del (p.Asn319fs)	Cranioectodermal dysplasia 4 [RCV002248395]	pathogenic	4	39214663	39214663	Human	1	name
153347849	CV1694897	single nucleotide variant	NM_025132.4(WDR19):c.1354T>C (p.Leu452=)	Connective tissue disorder [RCV002278828]	uncertain significance	4	39217238	39217238	Human	1	name
9693458	CV178153	single nucleotide variant	NM_025132.4(WDR19):c.1845T>C (p.Asn615=)	Asphyxiating thoracic dystrophy 5 [RCV002056049]\|not provided [RCV000154139]	likely benign\|uncertain significance	4	39228553	39228553	Human	1	name
10042834	CV187261	single nucleotide variant	NM_025132.4(WDR19):c.203T>A (p.Val68Asp)	Senior-Loken syndrome 8 [RCV000169776]	pathogenic\|not provided	4	39189694	39189694	Human	1	name
156407801	CV1873011	single nucleotide variant	NM_025132.4(WDR19):c.2823T>C (p.Ala941=)	Asphyxiating thoracic dystrophy 5 [RCV003071020]	likely benign	4	39253239	39253239	Human	1	name
156380234	CV1873500	single nucleotide variant	NM_025132.4(WDR19):c.1002A>G (p.Leu334=)	Asphyxiating thoracic dystrophy 5 [RCV003067108]	likely benign	4	39215881	39215881	Human	1	name
156329239	CV1881165	deletion	NM_025132.4(WDR19):c.812del (p.Ala271fs)	Asphyxiating thoracic dystrophy 5 [RCV003063595]	pathogenic	4	39205658	39205658	Human	1	name
155986816	CV1884074	single nucleotide variant	NM_025132.4(WDR19):c.2154C>T (p.Asp718=)	Asphyxiating thoracic dystrophy 5 [RCV003075924]	likely benign	4	39232173	39232173	Human	1	name
156294154	CV1892197	single nucleotide variant	NM_025132.4(WDR19):c.1467C>A (p.Ile489=)	Asphyxiating thoracic dystrophy 5 [RCV003061585]	likely benign	4	39218093	39218093	Human	1	name
156134691	CV1905633	single nucleotide variant	NM_025132.4(WDR19):c.2133A>G (p.Glu711=)	Asphyxiating thoracic dystrophy 5 [RCV003081970]	likely benign	4	39231947	39231947	Human	1	name
156023550	CV1920043	single nucleotide variant	NM_025132.4(WDR19):c.2916G>A (p.Gln972=)	Asphyxiating thoracic dystrophy 5 [RCV002619517]	likely benign	4	39253945	39253945	Human	1	name
156419268	CV1923164	single nucleotide variant	NM_025132.4(WDR19):c.2193C>T (p.Asn731=)	Asphyxiating thoracic dystrophy 5 [RCV002612493]\|WDR19-related disorder [RCV004538834]	likely benign	4	39232212	39232212	Human	2	name , alternate_id
156124293	CV1933765	single nucleotide variant	NM_025132.4(WDR19):c.1521C>T (p.Phe507=)	Asphyxiating thoracic dystrophy 5 [RCV002640449]	likely benign	4	39224925	39224925	Human	1	name
156445870	CV1952119	single nucleotide variant	NM_025132.4(WDR19):c.1620T>C (p.Val540=)	Asphyxiating thoracic dystrophy 5 [RCV003116832]	likely benign	4	39225024	39225024	Human	1	name
156382732	CV1960984	single nucleotide variant	NM_025132.4(WDR19):c.2841G>A (p.Glu947=)	Asphyxiating thoracic dystrophy 5 [RCV002583287]	likely benign	4	39253257	39253257	Human	1	name
156041588	CV1967152	single nucleotide variant	NM_025132.4(WDR19):c.2523C>G (p.Val841=)	Asphyxiating thoracic dystrophy 5 [RCV002590344]	likely benign	4	39244349	39244349	Human	1	name
156110357	CV2008596	single nucleotide variant	NM_025132.4(WDR19):c.1113C>T (p.Thr371=)	Asphyxiating thoracic dystrophy 5 [RCV002695644]	likely benign	4	39215992	39215992	Human	1	name
156302403	CV2013530	single nucleotide variant	NM_025132.4(WDR19):c.1902C>T (p.Thr634=)	Asphyxiating thoracic dystrophy 5 [RCV002716120]	likely benign	4	39228610	39228610	Human	1	name
156350526	CV2018726	single nucleotide variant	NM_025132.4(WDR19):c.1329T>G (p.Leu443=)	Asphyxiating thoracic dystrophy 5 [RCV002720149]	likely benign	4	39217213	39217213	Human	1	name
156223015	CV2037782	single nucleotide variant	NM_025132.4(WDR19):c.2262G>A (p.Arg754=)	Asphyxiating thoracic dystrophy 5 [RCV002790699]	likely benign	4	39234774	39234774	Human	1	name
156106279	CV2045777	single nucleotide variant	NM_025132.4(WDR19):c.2013T>C (p.Ile671=)	Asphyxiating thoracic dystrophy 5 [RCV002785219]	likely benign	4	39231827	39231827	Human	1	name
156029205	CV2052143	single nucleotide variant	NM_025132.4(WDR19):c.2463C>T (p.Ser821=)	Asphyxiating thoracic dystrophy 5 [RCV002820988]	likely benign	4	39244289	39244289	Human	1	name
156063167	CV2057526	single nucleotide variant	NM_025132.4(WDR19):c.1261T>C (p.Leu421=)	Asphyxiating thoracic dystrophy 5 [RCV002797166]	likely benign	4	39217145	39217145	Human	1	name
156030504	CV2059111	single nucleotide variant	NM_025132.4(WDR19):c.2031C>G (p.Ala677=)	Asphyxiating thoracic dystrophy 5 [RCV002796031]	likely benign	4	39231845	39231845	Human	1	name
156328578	CV2064992	single nucleotide variant	NM_025132.4(WDR19):c.2166G>A (p.Leu722=)	Asphyxiating thoracic dystrophy 5 [RCV002835160]	likely benign	4	39232185	39232185	Human	1	name
155957390	CV2066369	single nucleotide variant	NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)	Asphyxiating thoracic dystrophy 5 [RCV002816591]	uncertain significance	4	39189714	39189714	Human	1	name
156308937	CV2085826	single nucleotide variant	NM_025132.4(WDR19):c.1380T>C (p.Ala460=)	Asphyxiating thoracic dystrophy 5 [RCV002898600]	likely benign	4	39218006	39218006	Human	1	name
156189958	CV2086706	single nucleotide variant	NM_025132.4(WDR19):c.1446C>T (p.Ala482=)	Asphyxiating thoracic dystrophy 5 [RCV002852104]	likely benign	4	39218072	39218072	Human	1	name
155985648	CV2097672	single nucleotide variant	NM_025132.4(WDR19):c.1122C>T (p.Asn374=)	Asphyxiating thoracic dystrophy 5 [RCV002882144]	likely benign	4	39216001	39216001	Human	1	name
156315088	CV2104016	single nucleotide variant	NM_025132.4(WDR19):c.1326A>C (p.Ala442=)	Asphyxiating thoracic dystrophy 5 [RCV002937395]	likely benign	4	39217210	39217210	Human	1	name
156334308	CV2112984	single nucleotide variant	NM_025132.4(WDR19):c.1746C>T (p.Tyr582=)	Asphyxiating thoracic dystrophy 5 [RCV002938541]\|not provided [RCV003434523]	likely benign	4	39228326	39228326	Human	1	name
156230945	CV2122042	single nucleotide variant	NM_025132.4(WDR19):c.2235T>C (p.Cys745=)	Asphyxiating thoracic dystrophy 5 [RCV002958507]	likely benign	4	39232254	39232254	Human	1	name
156303421	CV2146552	single nucleotide variant	NM_025132.4(WDR19):c.1518A>G (p.Gln506=)	Asphyxiating thoracic dystrophy 5 [RCV003028204]	likely benign	4	39224922	39224922	Human	1	name
155981265	CV2157338	single nucleotide variant	NM_025132.4(WDR19):c.2695T>C (p.Leu899=)	Asphyxiating thoracic dystrophy 5 [RCV003016392]	likely benign	4	39245418	39245418	Human	1	name
156074864	CV2165444	single nucleotide variant	NM_025132.4(WDR19):c.1851G>A (p.Glu617=)	Asphyxiating thoracic dystrophy 5 [RCV003037683]	likely benign	4	39228559	39228559	Human	1	name
156085618	CV2170546	single nucleotide variant	NM_025132.4(WDR19):c.2781A>G (p.Val927=)	Asphyxiating thoracic dystrophy 5 [RCV003038036]	likely benign	4	39253197	39253197	Human	1	name
156048518	CV2186593	single nucleotide variant	NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)	Asphyxiating thoracic dystrophy 5 [RCV003036828]	uncertain significance	4	39189781	39189781	Human	1	name
156291378	CV2192390	single nucleotide variant	NM_025132.4(WDR19):c.1548T>C (p.Ser516=)	Asphyxiating thoracic dystrophy 5 [RCV003045158]	likely benign	4	39224952	39224952	Human	1	name
11546150	CV251477	single nucleotide variant	NM_025132.4(WDR19):c.1198C>T (p.Leu400=)	Asphyxiating thoracic dystrophy 5 [RCV000302521]\|Asphyxiating thoracic dystrophy 5 [RCV000952547]\|Cranioectodermal dysplasia 4 [RCV000338763]\|not provided [RCV001753728]\|not specified [RCV000246087]	benign\|likely benign\|uncertain significance	4	39216159	39216159	Human	2	name
11551520	CV251479	single nucleotide variant	NM_025132.4(WDR19):c.1581C>A (p.Thr527=)	Asphyxiating thoracic dystrophy 5 [RCV001083155]\|Asphyxiating thoracic dystrophy 5 [RCV001144398]\|Asphyxiating thoracic dystrophy 5 [RCV002494766]\|Connective tissue disorder [RCV002278220]\|Cranioectodermal dysplasia 4 [RCV001144397]\|Nephronophthisis 13 [RCV002244683]\|Senior-Loken syndrome 8 [RCV0022 ... (more) 44684]\|not provided [RCV001812737]\|not specified [RCV000253150]	benign\|likely benign	4	39224985	39224985	Human	5	name
11548896	CV251481	single nucleotide variant	NM_025132.4(WDR19):c.1629A>G (p.Pro543=)	Asphyxiating thoracic dystrophy 5 [RCV005213243]\|not provided [RCV005243176]\|not specified [RCV000249693]	likely benign\|uncertain significance	4	39225033	39225033	Human	1	name
11636673	CV270916	single nucleotide variant	NM_025132.4(WDR19):c.2715G>A (p.Lys905=)	Asphyxiating thoracic dystrophy 5 [RCV001089412]\|not provided [RCV000271288]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39245438	39245438	Human	1	name
11581336	CV271921	single nucleotide variant	NM_025132.4(WDR19):c.2361C>T (p.Phe787=)	Asphyxiating thoracic dystrophy 5 [RCV000399917]\|Asphyxiating thoracic dystrophy 5 [RCV001085843]\|Connective tissue disorder [RCV002278307]\|Cranioectodermal dysplasia 4 [RCV000365966]\|not provided [RCV001701934]\|not specified [RCV000286180]	benign\|likely benign\|uncertain significance	4	39234873	39234873	Human	3	name
11592748	CV293391	single nucleotide variant	NM_025132.4(WDR19):c.1173C>T (p.Asn391=)	Asphyxiating thoracic dystrophy 5 [RCV000342172]\|Asphyxiating thoracic dystrophy 5 [RCV003766008]\|Cranioectodermal dysplasia 4 [RCV000393193]\|WDR19-related disorder [RCV004530410]	likely benign\|uncertain significance	4	39216134	39216134	Human	3	name , alternate_id
11653968	CV293392	single nucleotide variant	NM_025132.4(WDR19):c.1293C>T (p.Ala431=)	Asphyxiating thoracic dystrophy 5 [RCV000314364]\|Cranioectodermal dysplasia 4 [RCV000369063]	uncertain significance	4	39217177	39217177	Human	2	name
11587925	CV294773	single nucleotide variant	NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	Asphyxiating thoracic dystrophy 5 [RCV001850849]\|Asphyxiating thoracic dystrophy 5 [RCV002480216]\|Cranioectodermal dysplasia [RCV000298705]\|Inborn genetic diseases [RCV004021962]\|Jeune thoracic dystrophy [RCV000400723]	likely benign\|uncertain significance	4	39216209	39216209	Human	4	name
11585365	CV294794	single nucleotide variant	NM_025132.4(WDR19):c.1839A>G (p.Leu613=)	Asphyxiating thoracic dystrophy 5 [RCV000374932]\|Asphyxiating thoracic dystrophy 5 [RCV000895575]\|Cranioectodermal dysplasia 4 [RCV000280416]	likely benign\|uncertain significance	4	39228547	39228547	Human	2	name
11656694	CV298363	single nucleotide variant	NM_025132.4(WDR19):c.1932G>A (p.Thr644=)	Asphyxiating thoracic dystrophy 5 [RCV000397851]\|Asphyxiating thoracic dystrophy 5 [RCV002523470]\|Cranioectodermal dysplasia 4 [RCV000335670]	likely benign\|uncertain significance	4	39228640	39228640	Human	2	name
402522799	CV3088258	single nucleotide variant	NM_025132.4(WDR19):c.1599T>C (p.Asp533=)	Asphyxiating thoracic dystrophy 5 [RCV003790594]	likely benign	4	39225003	39225003	Human	1	name
402524704	CV3088262	single nucleotide variant	NM_025132.4(WDR19):c.2056C>T (p.Leu686=)	Asphyxiating thoracic dystrophy 5 [RCV003790598]	likely benign	4	39231870	39231870	Human	1	name
402517547	CV3089938	single nucleotide variant	NM_025132.4(WDR19):c.2394T>C (p.Tyr798=)	Asphyxiating thoracic dystrophy 5 [RCV003780816]	likely benign	4	39240307	39240307	Human	1	name
405031727	CV3092683	single nucleotide variant	NM_025132.4(WDR19):c.1014C>A (p.Thr338=)	Asphyxiating thoracic dystrophy 5 [RCV003786194]	likely benign	4	39215893	39215893	Human	1	name
402482476	CV3093245	single nucleotide variant	NM_025132.4(WDR19):c.2022T>C (p.Asp674=)	Asphyxiating thoracic dystrophy 5 [RCV003786596]	likely benign	4	39231836	39231836	Human	1	name
404984760	CV3096507	single nucleotide variant	NM_025132.4(WDR19):c.2904G>A (p.Gly968=)	Asphyxiating thoracic dystrophy 5 [RCV003792056]	likely benign	4	39253933	39253933	Human	1	name
405089741	CV3105007	single nucleotide variant	NM_025132.4(WDR19):c.2574A>G (p.Glu858=)	Asphyxiating thoracic dystrophy 5 [RCV003800890]	likely benign	4	39244481	39244481	Human	1	name
405090570	CV3105093	single nucleotide variant	NM_025132.4(WDR19):c.1038C>T (p.Phe346=)	Asphyxiating thoracic dystrophy 5 [RCV003800976]	likely benign	4	39215917	39215917	Human	1	name
405011793	CV3106406	single nucleotide variant	NM_025132.4(WDR19):c.2085C>T (p.Ile695=)	Asphyxiating thoracic dystrophy 5 [RCV003794743]	likely benign	4	39231899	39231899	Human	1	name
405166598	CV3107152	single nucleotide variant	NM_025132.4(WDR19):c.1803C>T (p.Ser601=)	Asphyxiating thoracic dystrophy 5 [RCV003802643]	likely benign	4	39228511	39228511	Human	1	name
405071164	CV3111394	single nucleotide variant	NM_025132.4(WDR19):c.2268A>G (p.Leu756=)	Asphyxiating thoracic dystrophy 5 [RCV003809733]	likely benign	4	39234780	39234780	Human	1	name
405273917	CV3194888	single nucleotide variant	NM_025132.4(WDR19):c.2778T>C (p.Ser926=)	WDR19-related disorder [RCV004534606]	likely benign	4	39253194	39253194	Human		name , trait , alternate_id
405287266	CV3210580	single nucleotide variant	NM_025132.4(WDR19):c.1935G>A (p.Gly645=)	WDR19-related disorder [RCV004532109]	likely benign	4	39228643	39228643	Human		name , trait , alternate_id
405802267	CV3349166	single nucleotide variant	NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)	Asphyxiating thoracic dystrophy 5 [RCV005023542]\|Inborn genetic diseases [RCV004478241]	uncertain significance	4	39189748	39189748	Human	2	name
407523719	CV3489700	single nucleotide variant	NM_025132.4(WDR19):c.241C>T (p.Leu81Phe)	Inborn genetic diseases [RCV004678159]	uncertain significance	4	39189732	39189732	Human	1	name
597655135	CV3721428	single nucleotide variant	NM_025132.4(WDR19):c.137A>G (p.Gln46Arg)	Asphyxiating thoracic dystrophy 5 [RCV005027332]	uncertain significance	4	39186577	39186577	Human	1	name
597655144	CV3721429	single nucleotide variant	NM_025132.4(WDR19):c.142A>G (p.Arg48Gly)	Asphyxiating thoracic dystrophy 5 [RCV005027333]	uncertain significance	4	39186582	39186582	Human	1	name
597655154	CV3721430	single nucleotide variant	NM_025132.4(WDR19):c.143G>T (p.Arg48Ile)	Asphyxiating thoracic dystrophy 5 [RCV005027334]	uncertain significance	4	39186583	39186583	Human	1	name
597655176	CV3721432	single nucleotide variant	NM_025132.4(WDR19):c.180G>A (p.Met60Ile)	Asphyxiating thoracic dystrophy 5 [RCV005027336]	uncertain significance	4	39189671	39189671	Human	1	name
597655186	CV3721433	single nucleotide variant	NM_025132.4(WDR19):c.186G>A (p.Trp62Ter)	Asphyxiating thoracic dystrophy 5 [RCV005027337]	likely pathogenic	4	39189677	39189677	Human	1	name
597743222	CV3721434	single nucleotide variant	NM_025132.4(WDR19):c.194A>G (p.Asp65Gly)	Asphyxiating thoracic dystrophy 5 [RCV005039071]	uncertain significance	4	39189685	39189685	Human	1	name
597655195	CV3721435	single nucleotide variant	NM_025132.4(WDR19):c.235A>G (p.Ile79Val)	Asphyxiating thoracic dystrophy 5 [RCV005027338]	uncertain significance	4	39189726	39189726	Human	1	name
597919194	CV3868583	single nucleotide variant	NM_025132.4(WDR19):c.1585T>C (p.Leu529=)	Asphyxiating thoracic dystrophy 5 [RCV005223260]	likely benign	4	39224989	39224989	Human	1	name
597868750	CV3869463	single nucleotide variant	NM_025132.4(WDR19):c.1506T>A (p.Ile502=)	Asphyxiating thoracic dystrophy 5 [RCV005215394]	likely benign	4	39224910	39224910	Human	1	name
597888882	CV3871211	single nucleotide variant	NM_025132.4(WDR19):c.1635T>C (p.Asn545=)	Asphyxiating thoracic dystrophy 5 [RCV005218543]	likely benign	4	39228215	39228215	Human	1	name
597859577	CV3874652	single nucleotide variant	NM_025132.4(WDR19):c.1299T>C (p.Ile433=)	Asphyxiating thoracic dystrophy 5 [RCV005213993]	likely benign	4	39217183	39217183	Human	1	name
597928400	CV3878856	single nucleotide variant	NM_025132.4(WDR19):c.2250G>A (p.Leu750=)	Asphyxiating thoracic dystrophy 5 [RCV005224515]	likely benign	4	39232269	39232269	Human	1	name
597911759	CV3879583	single nucleotide variant	NM_025132.4(WDR19):c.2811T>C (p.Asn937=)	Asphyxiating thoracic dystrophy 5 [RCV005221984]	likely benign	4	39253227	39253227	Human	1	name
13467143	CV440088	duplication	NM_025132.4(WDR19):c.781dup (p.Thr261fs)	Asphyxiating thoracic dystrophy 5 [RCV001231474]\|Asphyxiating thoracic dystrophy 5 [RCV004017660]\|Asphyxiating thoracic dystrophy 5 [RCV005027596]\|Asphyxiating thoracic dystrophy 5 [RCV005356047]\|Jeune thoracic dystrophy [RCV000515920]\|Nephronophthisis 13 [RCV000850616]\|WDR19 ... (more) '>WDR19-related disorder [RCV005250067]\|not provided [RCV003139712]	pathogenic\|likely pathogenic\|uncertain significance	4	39205626	39205627	Human	7	name , alternate_id
14394006	CV609539	single nucleotide variant	NM_025132.4(WDR19):c.2577G>A (p.Ala859=)	Asphyxiating thoracic dystrophy 5 [RCV001146436]\|Asphyxiating thoracic dystrophy 5 [RCV001483312]\|Cranioectodermal dysplasia 4 [RCV001146435]\|not provided [RCV000756914]	likely benign\|uncertain significance	4	39244484	39244484	Human	2	name
14394008	CV609540	single nucleotide variant	NM_025132.4(WDR19):c.2742T>C (p.Ala914=)	Asphyxiating thoracic dystrophy 5 [RCV001455522]\|Asphyxiating thoracic dystrophy 5 [RCV002485961]\|WDR19-related disorder [RCV004540080]\|not provided [RCV000756916]	likely benign	4	39253158	39253158	Human	5	name , alternate_id
15178020	CV698513	single nucleotide variant	NM_025132.4(WDR19):c.1566C>T (p.Pro522=)	Asphyxiating thoracic dystrophy 5 [RCV000951175]\|Asphyxiating thoracic dystrophy 5 [RCV001144396]\|Cranioectodermal dysplasia 4 [RCV001150486]	likely benign\|uncertain significance	4	39224970	39224970	Human	2	name
15182943	CV698514	single nucleotide variant	NM_025132.4(WDR19):c.1797T>G (p.Ala599=)	Asphyxiating thoracic dystrophy 5 [RCV000952345]\|Asphyxiating thoracic dystrophy 5 [RCV002479098]\|WDR19-related disorder [RCV004543583]\|not provided [RCV004711453]	likely benign	4	39228505	39228505	Human	5	name , alternate_id
15142990	CV709359	single nucleotide variant	NM_025132.4(WDR19):c.1941C>T (p.Asp647=)	Asphyxiating thoracic dystrophy 5 [RCV002066398]	likely benign	4	39228649	39228649	Human	1	name
15150027	CV720967	single nucleotide variant	NM_025132.4(WDR19):c.2325T>G (p.Pro775=)	Asphyxiating thoracic dystrophy 5 [RCV002536813]	likely benign	4	39234837	39234837	Human	1	name
15134874	CV734631	single nucleotide variant	NM_025132.4(WDR19):c.2673C>T (p.His891=)	Asphyxiating thoracic dystrophy 5 [RCV002065653]	likely benign	4	39245396	39245396	Human	1	name
15111210	CV764459	single nucleotide variant	NM_025132.4(WDR19):c.1365C>T (p.Ser455=)	Asphyxiating thoracic dystrophy 5 [RCV000938706]	likely benign	4	39217991	39217991	Human	1	name
21071314	CV790470	single nucleotide variant	NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter)	Asphyxiating thoracic dystrophy 5 [RCV000987438]	pathogenic	4	39186548	39186548	Human	1	name
8631168	CV86324	single nucleotide variant	NM_025132.4(WDR19):c.1428C>T (p.Cys476=)	Asphyxiating thoracic dystrophy 5 [RCV003793544]	likely benign\|not provided	4	39218054	39218054	Human	1	name
28878958	CV890632	single nucleotide variant	NM_025132.4(WDR19):c.128G>A (p.Arg43His)	Asphyxiating thoracic dystrophy 5 [RCV001148842]\|Asphyxiating thoracic dystrophy 5 [RCV002557195]\|Cranioectodermal dysplasia 4 [RCV001148843]	uncertain significance	4	39186568	39186568	Human	2	name
38488956	CV943978	single nucleotide variant	NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp)	Asphyxiating thoracic dystrophy 5 [RCV001238218]	uncertain significance	4	39186546	39186546	Human	1	name
38482136	CV943979	single nucleotide variant	NM_025132.4(WDR19):c.275T>G (p.Leu92Ter)	Asphyxiating thoracic dystrophy 5 [RCV001235420]\|not provided [RCV004812389]	pathogenic\|likely pathogenic	4	39189766	39189766	Human	1	name
38459609	CV943985	single nucleotide variant	NM_025132.4(WDR19):c.1479T>C (p.Asp493=)	Asphyxiating thoracic dystrophy 5 [RCV001229171]\|Asphyxiating thoracic dystrophy 5 [RCV005036497]\|WDR19-related disorder [RCV004545134]	likely benign\|uncertain significance	4	39218105	39218105	Human	5	name , alternate_id
126736262	CV990109	single nucleotide variant	NM_025132.4(WDR19):c.269G>A (p.Ser90Asn)	Asphyxiating thoracic dystrophy 5 [RCV001304717]	uncertain significance	4	39189760	39189760	Human	1	name
126769515	CV1005256	single nucleotide variant	NM_025132.4(WDR19):c.636T>G (p.Phe212Leu)	Asphyxiating thoracic dystrophy 5 [RCV001322005]	uncertain significance	4	39205186	39205186	Human	1	name
126765328	CV1005257	single nucleotide variant	NM_025132.4(WDR19):c.664C>G (p.Pro222Ala)	Asphyxiating thoracic dystrophy 5 [RCV001320000]\|Asphyxiating thoracic dystrophy 5 [RCV002476497]	uncertain significance	4	39205214	39205214	Human	1	name
126774467	CV1025851	single nucleotide variant	NM_025132.4(WDR19):c.727G>A (p.Gly243Ser)	Asphyxiating thoracic dystrophy 5 [RCV001347262]	uncertain significance	4	39205573	39205573	Human	1	name
126761035	CV1025852	single nucleotide variant	NM_025132.4(WDR19):c.931G>A (p.Val311Ile)	Asphyxiating thoracic dystrophy 5 [RCV001340572]	uncertain significance	4	39214641	39214641	Human	1	name
127241490	CV1060025	single nucleotide variant	NM_025132.4(WDR19):c.388C>T (p.Arg130Ter)	Asphyxiating thoracic dystrophy 5 [RCV001383659]	pathogenic	4	39194641	39194641	Human	1	name
127276834	CV1071648	single nucleotide variant	NM_025132.4(WDR19):c.3354T>G (p.Ser1118=)	Asphyxiating thoracic dystrophy 5 [RCV001407355]	likely benign	4	39268087	39268087	Human	1	name
127251638	CV1071650	single nucleotide variant	NM_025132.4(WDR19):c.3615C>T (p.Gly1205=)	Asphyxiating thoracic dystrophy 5 [RCV001400157]\|not provided [RCV001796479]	likely benign	4	39274857	39274857	Human	1	name
127266008	CV1071651	single nucleotide variant	NM_025132.4(WDR19):c.4026G>A (p.Leu1342=)	Asphyxiating thoracic dystrophy 5 [RCV001403731]	likely benign	4	39278647	39278647	Human	1	name
127254827	CV1093278	single nucleotide variant	NM_025132.4(WDR19):c.3043T>C (p.Leu1015=)	Asphyxiating thoracic dystrophy 5 [RCV001426383]	likely benign	4	39255889	39255889	Human	1	name
127253311	CV1093280	single nucleotide variant	NM_025132.4(WDR19):c.3684C>G (p.Ala1228=)	Asphyxiating thoracic dystrophy 5 [RCV001436984]	likely benign	4	39274926	39274926	Human	1	name
127264172	CV1093281	single nucleotide variant	NM_025132.4(WDR19):c.3750G>A (p.Thr1250=)	Asphyxiating thoracic dystrophy 5 [RCV001428781]	likely benign	4	39277053	39277053	Human	1	name
127276261	CV1093282	single nucleotide variant	NM_025132.4(WDR19):c.3804T>C (p.Pro1268=)	Asphyxiating thoracic dystrophy 5 [RCV001443735]	likely benign	4	39277107	39277107	Human	1	name
127306064	CV1114806	single nucleotide variant	NM_025132.4(WDR19):c.3246C>T (p.Asn1082=)	Asphyxiating thoracic dystrophy 5 [RCV001462674]	likely benign	4	39266125	39266125	Human	1	name
127337646	CV1114807	single nucleotide variant	NM_025132.4(WDR19):c.3369G>A (p.Arg1123=)	Asphyxiating thoracic dystrophy 5 [RCV001475779]	likely benign	4	39269986	39269986	Human	1	name
127289804	CV1114808	single nucleotide variant	NM_025132.4(WDR19):c.3378C>T (p.His1126=)	Asphyxiating thoracic dystrophy 5 [RCV001458216]	likely benign	4	39269995	39269995	Human	1	name
127336889	CV1114809	single nucleotide variant	NM_025132.4(WDR19):c.3630T>C (p.Ala1210=)	Asphyxiating thoracic dystrophy 5 [RCV001475281]	likely benign	4	39274872	39274872	Human	1	name
127333333	CV1114810	single nucleotide variant	NM_025132.4(WDR19):c.3723C>T (p.Pro1241=)	Asphyxiating thoracic dystrophy 5 [RCV001472841]	likely benign	4	39277026	39277026	Human	1	name
127321781	CV1135731	single nucleotide variant	NM_025132.4(WDR19):c.3762A>C (p.Pro1254=)	Asphyxiating thoracic dystrophy 5 [RCV001484676]	likely benign	4	39277065	39277065	Human	1	name
150492706	CV1275057	single nucleotide variant	NM_025132.4(WDR19):c.553C>G (p.Gln185Glu)	Asphyxiating thoracic dystrophy 5 [RCV001882779]\|not provided [RCV001702023]	likely benign\|uncertain significance	4	39203672	39203672	Human	1	name
8657810	CV132654	single nucleotide variant	NM_025132.4(WDR19):c.682C>T (p.Gln228Ter)	Nephronophthisis 13 [RCV000115012]	pathogenic	4	39205232	39205232	Human	1	name
151836023	CV1347172	single nucleotide variant	NM_025132.4(WDR19):c.673C>A (p.Leu225Ile)	Asphyxiating thoracic dystrophy 5 [RCV002031297]	uncertain significance	4	39205223	39205223	Human	1	name
151779626	CV1378673	single nucleotide variant	NM_025132.4(WDR19):c.427A>T (p.Thr143Ser)	Asphyxiating thoracic dystrophy 5 [RCV001875235]\|Asphyxiating thoracic dystrophy 5 [RCV005038411]	uncertain significance	4	39199498	39199498	Human	1	name
151717611	CV1380518	single nucleotide variant	NM_025132.4(WDR19):c.328A>G (p.Ser110Gly)	Asphyxiating thoracic dystrophy 5 [RCV002003156]	uncertain significance	4	39194581	39194581	Human	1	name
151742579	CV1390901	single nucleotide variant	NM_025132.4(WDR19):c.404T>C (p.Leu135Pro)	Asphyxiating thoracic dystrophy 5 [RCV001985381]\|Asphyxiating thoracic dystrophy 5 [RCV005031973]	uncertain significance	4	39194657	39194657	Human	1	name
151667900	CV1397332	single nucleotide variant	NM_025132.4(WDR19):c.667G>A (p.Ala223Thr)	Asphyxiating thoracic dystrophy 5 [RCV001982689]	uncertain significance	4	39205217	39205217	Human	1	name
151727810	CV1409931	single nucleotide variant	NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)	Asphyxiating thoracic dystrophy 5 [RCV001910564]\|Asphyxiating thoracic dystrophy 5 [RCV002484542]	likely benign\|uncertain significance	4	39278635	39278635	Human	1	name
151857230	CV1410500	single nucleotide variant	NM_025132.4(WDR19):c.956A>G (p.Asn319Ser)	Asphyxiating thoracic dystrophy 5 [RCV001996686]\|Asphyxiating thoracic dystrophy 5 [RCV005031976]\|not provided [RCV002469439]	uncertain significance	4	39214666	39214666	Human	1	name
151842121	CV1423899	single nucleotide variant	NM_025132.4(WDR19):c.359A>T (p.Asn120Ile)	Asphyxiating thoracic dystrophy 5 [RCV001977822]	uncertain significance	4	39194612	39194612	Human	1	name
151754011	CV1429425	single nucleotide variant	NM_025132.4(WDR19):c.441G>A (p.Trp147Ter)	Asphyxiating thoracic dystrophy 5 [RCV002007147]\|WDR19-related disorder [RCV004542198]	pathogenic\|likely pathogenic	4	39199512	39199512	Human	2	name , alternate_id
151792364	CV1436443	single nucleotide variant	NM_025132.4(WDR19):c.841A>C (p.Ile281Leu)	Asphyxiating thoracic dystrophy 5 [RCV001990197]	uncertain significance	4	39205687	39205687	Human	1	name
151759334	CV1443780	single nucleotide variant	NM_025132.4(WDR19):c.512C>T (p.Thr171Met)	Asphyxiating thoracic dystrophy 5 [RCV001873053]\|Asphyxiating thoracic dystrophy 5 [RCV002506930]	uncertain significance	4	39199583	39199583	Human	1	name
151854040	CV1453443	single nucleotide variant	NM_025132.4(WDR19):c.814C>T (p.Arg272Cys)	Asphyxiating thoracic dystrophy 5 [RCV001883110]\|Asphyxiating thoracic dystrophy 5 [RCV002482598]	uncertain significance	4	39205660	39205660	Human	1	name
151753793	CV1453760	duplication	NM_025132.4(WDR19):c.2481dup (p.Arg828fs)	Asphyxiating thoracic dystrophy 5 [RCV001913249]	pathogenic	4	39244306	39244307	Human	1	name
151750041	CV1465609	single nucleotide variant	NM_025132.4(WDR19):c.3000T>C (p.Ile1000=)	Asphyxiating thoracic dystrophy 5 [RCV002043196]	uncertain significance	4	39254029	39254029	Human	1	name
151801163	CV1475089	single nucleotide variant	NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys)	Asphyxiating thoracic dystrophy 5 [RCV001952941]	uncertain significance	4	39194624	39194624	Human	1	name
151764734	CV1478442	single nucleotide variant	NM_025132.4(WDR19):c.738G>A (p.Met246Ile)	Asphyxiating thoracic dystrophy 5 [RCV002008261]\|Inborn genetic diseases [RCV005301061]	uncertain significance	4	39205584	39205584	Human	2	name
151815700	CV1485623	single nucleotide variant	NM_025132.4(WDR19):c.812C>T (p.Ala271Val)	Asphyxiating thoracic dystrophy 5 [RCV002029401]	uncertain significance	4	39205658	39205658	Human	1	name
151712734	CV1489807	single nucleotide variant	NM_025132.4(WDR19):c.410A>G (p.Lys137Arg)	Asphyxiating thoracic dystrophy 5 [RCV001889708]\|Asphyxiating thoracic dystrophy 5 [RCV005023381]	uncertain significance	4	39199481	39199481	Human	1	name
151750517	CV1508273	single nucleotide variant	NM_025132.4(WDR19):c.977C>G (p.Ser326Cys)	Asphyxiating thoracic dystrophy 5 [RCV001986237]\|Asphyxiating thoracic dystrophy 5 [RCV002492274]	uncertain significance	4	39215856	39215856	Human	1	name
152064952	CV1535905	single nucleotide variant	NM_025132.4(WDR19):c.3942T>C (p.Cys1314=)	Asphyxiating thoracic dystrophy 5 [RCV002168511]	likely benign	4	39278563	39278563	Human	1	name
152162787	CV1537394	single nucleotide variant	NM_025132.4(WDR19):c.3607A>C (p.Arg1203=)	Asphyxiating thoracic dystrophy 5 [RCV002159942]	likely benign	4	39274849	39274849	Human	1	name
152112802	CV1539352	single nucleotide variant	NM_025132.4(WDR19):c.3147G>A (p.Ser1049=)	Asphyxiating thoracic dystrophy 5 [RCV002080479]	likely benign	4	39257518	39257518	Human	1	name
152137690	CV1563427	single nucleotide variant	NM_025132.4(WDR19):c.3216T>C (p.Asn1072=)	Asphyxiating thoracic dystrophy 5 [RCV002200165]	likely benign	4	39266095	39266095	Human	1	name
152030375	CV1566220	single nucleotide variant	NM_025132.4(WDR19):c.3801T>C (p.Cys1267=)	Asphyxiating thoracic dystrophy 5 [RCV002086119]	likely benign	4	39277104	39277104	Human	1	name
152065482	CV1601469	single nucleotide variant	NM_025132.4(WDR19):c.3399T>C (p.Tyr1133=)	Asphyxiating thoracic dystrophy 5 [RCV002168591]	likely benign	4	39270016	39270016	Human	1	name
152034398	CV1634899	single nucleotide variant	NM_025132.4(WDR19):c.3585G>A (p.Thr1195=)	Asphyxiating thoracic dystrophy 5 [RCV002086964]	likely benign	4	39274827	39274827	Human	1	name
152111495	CV1640402	single nucleotide variant	NM_025132.4(WDR19):c.3432C>G (p.Pro1144=)	Asphyxiating thoracic dystrophy 5 [RCV002174393]	likely benign	4	39270049	39270049	Human	1	name
152063818	CV1644853	single nucleotide variant	NM_025132.4(WDR19):c.3900A>G (p.Leu1300=)	Asphyxiating thoracic dystrophy 5 [RCV002147123]	likely benign	4	39278190	39278190	Human	1	name
153347852	CV1694900	single nucleotide variant	NM_025132.4(WDR19):c.685C>G (p.Gln229Glu)	Connective tissue disorder [RCV002278831]	uncertain significance	4	39205235	39205235	Human	1	name
156009963	CV1870776	single nucleotide variant	NM_025132.4(WDR19):c.815G>A (p.Arg272His)	Asphyxiating thoracic dystrophy 5 [RCV003077030]	uncertain significance	4	39205661	39205661	Human	1	name
156238049	CV1882249	single nucleotide variant	NM_025132.4(WDR19):c.3828T>C (p.Tyr1276=)	Asphyxiating thoracic dystrophy 5 [RCV003085638]	likely benign	4	39277131	39277131	Human	1	name
156258486	CV1906381	single nucleotide variant	NM_025132.4(WDR19):c.3288C>T (p.Tyr1096=)	Asphyxiating thoracic dystrophy 5 [RCV003086354]	likely benign	4	39268021	39268021	Human	1	name
156402684	CV1908156	single nucleotide variant	NM_025132.4(WDR19):c.749C>G (p.Ser250Ter)	Asphyxiating thoracic dystrophy 5 [RCV002585060]	pathogenic	4	39205595	39205595	Human	1	name
156373060	CV1921028	single nucleotide variant	NM_025132.4(WDR19):c.3162A>C (p.Ala1054=)	Asphyxiating thoracic dystrophy 5 [RCV002603343]	likely benign	4	39257533	39257533	Human	1	name
156037794	CV1932882	single nucleotide variant	NM_025132.4(WDR19):c.373A>C (p.Asn125His)	Asphyxiating thoracic dystrophy 5 [RCV002637448]\|Asphyxiating thoracic dystrophy 5 [RCV005028292]\|WDR19-related disorder [RCV004736283]	uncertain significance	4	39194626	39194626	Human	5	name , alternate_id
156449590	CV1941850	single nucleotide variant	NM_025132.4(WDR19):c.3753T>G (p.Thr1251=)	Asphyxiating thoracic dystrophy 5 [RCV003121715]	likely benign	4	39277056	39277056	Human	1	name
156389644	CV1980045	single nucleotide variant	NM_025132.4(WDR19):c.628A>G (p.Thr210Ala)	Asphyxiating thoracic dystrophy 5 [RCV002634870]	uncertain significance	4	39205178	39205178	Human	1	name
156008327	CV1981400	single nucleotide variant	NM_025132.4(WDR19):c.3105A>G (p.Gln1035=)	Asphyxiating thoracic dystrophy 5 [RCV002618772]	likely benign\|uncertain significance	4	39255951	39255951	Human	1	name
156009208	CV1989602	single nucleotide variant	NM_025132.4(WDR19):c.941A>G (p.Asn314Ser)	Asphyxiating thoracic dystrophy 5 [RCV002636133]	uncertain significance	4	39214651	39214651	Human	1	name
156366965	CV2010820	single nucleotide variant	NM_025132.4(WDR19):c.3516G>T (p.Gly1172=)	Asphyxiating thoracic dystrophy 5 [RCV002676629]	likely benign	4	39273012	39273012	Human	1	name
156114345	CV2018692	single nucleotide variant	NM_025132.4(WDR19):c.3327C>T (p.Ala1109=)	Asphyxiating thoracic dystrophy 5 [RCV002695792]	likely benign	4	39268060	39268060	Human	1	name
155911146	CV2024160	single nucleotide variant	NM_025132.4(WDR19):c.697A>G (p.Asn233Asp)	Asphyxiating thoracic dystrophy 5 [RCV002726814]	uncertain significance	4	39205247	39205247	Human	1	name
156245428	CV2029362	single nucleotide variant	NM_025132.4(WDR19):c.3426A>G (p.Lys1142=)	Asphyxiating thoracic dystrophy 5 [RCV002745810]	likely benign	4	39270043	39270043	Human	1	name
156047825	CV2030970	single nucleotide variant	NM_025132.4(WDR19):c.604A>G (p.Ile202Val)	Asphyxiating thoracic dystrophy 5 [RCV002736410]	uncertain significance	4	39205154	39205154	Human	1	name
156138007	CV2040604	single nucleotide variant	NM_025132.4(WDR19):c.3561A>G (p.Pro1187=)	Asphyxiating thoracic dystrophy 5 [RCV002786418]	likely benign	4	39273057	39273057	Human	1	name
156237993	CV2047090	single nucleotide variant	NM_025132.4(WDR19):c.3555A>G (p.Lys1185=)	Asphyxiating thoracic dystrophy 5 [RCV002805568]	likely benign	4	39273051	39273051	Human	1	name
156291792	CV2047267	single nucleotide variant	NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)	Asphyxiating thoracic dystrophy 5 [RCV002770803]\|not provided [RCV003434508]	likely benign\|uncertain significance	4	39278539	39278539	Human	1	name
156198020	CV2066686	single nucleotide variant	NM_025132.4(WDR19):c.376C>T (p.His126Tyr)	Asphyxiating thoracic dystrophy 5 [RCV002828838]	uncertain significance	4	39194629	39194629	Human	1	name
155931454	CV2067318	single nucleotide variant	NM_025132.4(WDR19):c.731G>C (p.Arg244Pro)	Asphyxiating thoracic dystrophy 5 [RCV002838786]	uncertain significance	4	39205577	39205577	Human	1	name
155954806	CV2069750	single nucleotide variant	NM_025132.4(WDR19):c.840C>G (p.Ser280Arg)	Asphyxiating thoracic dystrophy 5 [RCV002816460]	uncertain significance	4	39205686	39205686	Human	1	name
156281343	CV2071026	single nucleotide variant	NM_025132.4(WDR19):c.925A>G (p.Met309Val)	Asphyxiating thoracic dystrophy 5 [RCV002856395]	uncertain significance	4	39214635	39214635	Human	1	name
155961252	CV2080464	deletion	NM_025132.4(WDR19):c.2337del (p.Glu780fs)	Asphyxiating thoracic dystrophy 5 [RCV002862869]	pathogenic	4	39234846	39234846	Human	1	name
155915283	CV2091694	single nucleotide variant	NM_025132.4(WDR19):c.526C>T (p.Gln176Ter)	Asphyxiating thoracic dystrophy 5 [RCV002903042]	pathogenic	4	39203645	39203645	Human	1	name
156247207	CV2101739	single nucleotide variant	NM_025132.4(WDR19):c.3961T>C (p.Leu1321=)	Asphyxiating thoracic dystrophy 5 [RCV002895130]	likely benign	4	39278582	39278582	Human	1	name
156017421	CV2121486	single nucleotide variant	NM_025132.4(WDR19):c.650A>G (p.Asn217Ser)	Asphyxiating thoracic dystrophy 5 [RCV002948607]	uncertain significance	4	39205200	39205200	Human	1	name
155997652	CV2122676	single nucleotide variant	NM_025132.4(WDR19):c.631T>G (p.Leu211Val)	Asphyxiating thoracic dystrophy 5 [RCV002975029]	uncertain significance	4	39205181	39205181	Human	1	name
156240915	CV2129667	single nucleotide variant	NM_025132.4(WDR19):c.3075G>A (p.Gln1025=)	Asphyxiating thoracic dystrophy 5 [RCV002958865]	likely benign	4	39255921	39255921	Human	1	name
156250193	CV2129998	single nucleotide variant	NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)	Asphyxiating thoracic dystrophy 5 [RCV002959182]	uncertain significance	4	39255912	39255912	Human	1	name
156284610	CV2134042	deletion	NM_025132.4(WDR19):c.2972del (p.Asn991fs)	Asphyxiating thoracic dystrophy 5 [RCV003009720]	pathogenic	4	39254000	39254000	Human	1	name
156278380	CV2137398	single nucleotide variant	NM_025132.4(WDR19):c.3048C>T (p.Tyr1016=)	Asphyxiating thoracic dystrophy 5 [RCV003009510]	likely benign	4	39255894	39255894	Human	1	name
155970317	CV2152533	single nucleotide variant	NM_025132.4(WDR19):c.3609G>A (p.Arg1203=)	Asphyxiating thoracic dystrophy 5 [RCV003015904]	likely benign	4	39274851	39274851	Human	1	name
156197028	CV2157284	single nucleotide variant	NM_025132.4(WDR19):c.535T>C (p.Ser179Pro)	Asphyxiating thoracic dystrophy 5 [RCV003006194]	uncertain significance	4	39203654	39203654	Human	1	name
155949264	CV2162480	deletion	NM_025132.4(WDR19):c.2797del (p.Asp933fs)	Asphyxiating thoracic dystrophy 5 [RCV003014757]	pathogenic	4	39253212	39253212	Human	1	name
155981295	CV2163102	single nucleotide variant	NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr)	Asphyxiating thoracic dystrophy 5 [RCV003033893]	uncertain significance	4	39199508	39199508	Human	1	name
156366141	CV2177035	single nucleotide variant	NM_025132.4(WDR19):c.3189T>G (p.Gly1063=)	Asphyxiating thoracic dystrophy 5 [RCV003049359]	likely benign	4	39266068	39266068	Human	1	name
155960532	CV2183433	single nucleotide variant	NM_025132.4(WDR19):c.388C>G (p.Arg130Gly)	Asphyxiating thoracic dystrophy 5 [RCV003032915]	uncertain significance	4	39194641	39194641	Human	1	name
156401702	CV2191284	single nucleotide variant	NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)	Asphyxiating thoracic dystrophy 5 [RCV003052371]	uncertain significance	4	39194585	39194585	Human	1	name
11547109	CV251476	single nucleotide variant	NM_025132.4(WDR19):c.910G>A (p.Val304Ile)	Asphyxiating thoracic dystrophy 5 [RCV000333519]\|Asphyxiating thoracic dystrophy 5 [RCV000544386]\|Connective tissue disorder [RCV002278223]\|Cranioectodermal dysplasia 4 [RCV000259570]\|Nephronophthisis 13 [RCV002244705]\|Senior-Loken syndrome 8 [RCV002244706]\|not provided [RCV004717124]\|not specified ... (more) [RCV000247332]	benign\|likely benign	4	39214620	39214620	Human	5	name
11546804	CV251486	single nucleotide variant	NM_025132.4(WDR19):c.3435C>T (p.Ser1145=)	Asphyxiating thoracic dystrophy 5 [RCV001466711]\|Asphyxiating thoracic dystrophy 5 [RCV002503947]\|not specified [RCV000246937]	likely benign	4	39270052	39270052	Human	1	name
11640180	CV268545	single nucleotide variant	NM_025132.4(WDR19):c.892A>G (p.Ile298Val)	not provided [RCV000332363]	uncertain significance	4	39214602	39214602	Human		name
11655928	CV294762	single nucleotide variant	NM_025132.4(WDR19):c.935T>C (p.Ile312Thr)	Asphyxiating thoracic dystrophy 5 [RCV000329625]\|Cranioectodermal dysplasia 4 [RCV000384136]	uncertain significance	4	39214645	39214645	Human	2	name
11586684	CV294796	single nucleotide variant	NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)	Asphyxiating thoracic dystrophy 5 [RCV000289800]\|Asphyxiating thoracic dystrophy 5 [RCV001519086]\|Connective tissue disorder [RCV002278579]\|Cranioectodermal dysplasia 4 [RCV000347138]\|not provided [RCV001726139]\|not specified [RCV001699383]	benign\|likely benign\|uncertain significance	4	39266128	39266128	Human	3	name
11584564	CV298421	single nucleotide variant	NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)	Asphyxiating thoracic dystrophy 5 [RCV000387750]\|Asphyxiating thoracic dystrophy 5 [RCV000693524]\|Asphyxiating thoracic dystrophy 5 [RCV002487533]\|Cranioectodermal dysplasia 4 [RCV000274582]\|Inborn genetic diseases [RCV002520239]\|not specified [RCV001002087]	uncertain significance	4	39214639	39214639	Human	3	name
11592719	CV298430	single nucleotide variant	NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)	Asphyxiating thoracic dystrophy 5 [RCV000390270]\|Asphyxiating thoracic dystrophy 5 [RCV001413120]\|Cranioectodermal dysplasia 4 [RCV000341521]\|Retinal dystrophy [RCV001074268]	likely benign\|uncertain significance	4	39268016	39268016	Human	4	name
405027624	CV3082420	single nucleotide variant	NM_025132.4(WDR19):c.3639C>T (p.Phe1213=)	Asphyxiating thoracic dystrophy 5 [RCV003785871]	likely benign	4	39274881	39274881	Human	1	name
402516568	CV3089860	single nucleotide variant	NM_025132.4(WDR19):c.3406C>T (p.Leu1136=)	Asphyxiating thoracic dystrophy 5 [RCV003780737]	likely benign	4	39270023	39270023	Human	1	name
405019826	CV3094493	single nucleotide variant	NM_025132.4(WDR19):c.3012C>T (p.Asp1004=)	Asphyxiating thoracic dystrophy 5 [RCV003785183]	likely benign	4	39255858	39255858	Human	1	name
405074309	CV3100187	single nucleotide variant	NM_025132.4(WDR19):c.3258T>G (p.Pro1086=)	Asphyxiating thoracic dystrophy 5 [RCV003799740]	likely benign	4	39266137	39266137	Human	1	name
402523397	CV3102542	single nucleotide variant	NM_025132.4(WDR19):c.3306C>T (p.Tyr1102=)	Asphyxiating thoracic dystrophy 5 [RCV003790636]	likely benign	4	39268039	39268039	Human	1	name
405065676	CV3103353	single nucleotide variant	NM_025132.4(WDR19):c.3528C>T (p.Leu1176=)	Asphyxiating thoracic dystrophy 5 [RCV003799183]	likely benign	4	39273024	39273024	Human	1	name
405076199	CV3111708	single nucleotide variant	NM_025132.4(WDR19):c.3582G>A (p.Leu1194=)	Asphyxiating thoracic dystrophy 5 [RCV003810048]	likely benign	4	39274824	39274824	Human	1	name
405802276	CV3349170	single nucleotide variant	NM_025132.4(WDR19):c.466G>A (p.Gly156Ser)	Inborn genetic diseases [RCV004478245]	uncertain significance	4	39199537	39199537	Human	1	name
12742767	CV359613	single nucleotide variant	NM_025132.4(WDR19):c.728G>T (p.Gly243Val)	not provided [RCV000414473]	likely pathogenic	4	39205574	39205574	Human		name
597630507	CV3633467	single nucleotide variant	NM_025132.4(WDR19):c.911T>A (p.Val304Asp)	Inborn genetic diseases [RCV004967333]	uncertain significance	4	39214621	39214621	Human	1	name
597630517	CV3633470	single nucleotide variant	NM_025132.4(WDR19):c.581G>T (p.Arg194Leu)	Inborn genetic diseases [RCV004967336]	uncertain significance	4	39203700	39203700	Human	1	name
597630545	CV3633476	single nucleotide variant	NM_025132.4(WDR19):c.782C>T (p.Thr261Ile)	Inborn genetic diseases [RCV004967342]	likely benign	4	39205628	39205628	Human	1	name
597655218	CV3721437	single nucleotide variant	NM_025132.4(WDR19):c.355G>T (p.Gly119Ter)	Asphyxiating thoracic dystrophy 5 [RCV005027340]	likely pathogenic	4	39194608	39194608	Human	1	name
597655227	CV3721438	single nucleotide variant	NM_025132.4(WDR19):c.377A>G (p.His126Arg)	Asphyxiating thoracic dystrophy 5 [RCV005027341]	uncertain significance	4	39194630	39194630	Human	1	name
597655245	CV3721440	single nucleotide variant	NM_025132.4(WDR19):c.415A>G (p.Thr139Ala)	Asphyxiating thoracic dystrophy 5 [RCV005027343]	uncertain significance	4	39199486	39199486	Human	1	name
597743236	CV3721441	single nucleotide variant	NM_025132.4(WDR19):c.416C>A (p.Thr139Asn)	Asphyxiating thoracic dystrophy 5 [RCV005039073]	uncertain significance	4	39199487	39199487	Human	1	name
597743243	CV3721442	single nucleotide variant	NM_025132.4(WDR19):c.467G>T (p.Gly156Val)	Asphyxiating thoracic dystrophy 5 [RCV005039074]	uncertain significance	4	39199538	39199538	Human	1	name
597655271	CV3721444	single nucleotide variant	NM_025132.4(WDR19):c.619G>A (p.Gly207Ser)	Asphyxiating thoracic dystrophy 5 [RCV005027346]	uncertain significance	4	39205169	39205169	Human	1	name
597655283	CV3721445	single nucleotide variant	NM_025132.4(WDR19):c.632T>C (p.Leu211Ser)	Asphyxiating thoracic dystrophy 5 [RCV005027347]	uncertain significance	4	39205182	39205182	Human	1	name
597655293	CV3721446	single nucleotide variant	NM_025132.4(WDR19):c.670G>C (p.Asp224His)	Asphyxiating thoracic dystrophy 5 [RCV005027348]	uncertain significance	4	39205220	39205220	Human	1	name
597743251	CV3721448	single nucleotide variant	NM_025132.4(WDR19):c.821A>G (p.His274Arg)	Asphyxiating thoracic dystrophy 5 [RCV005039075]	uncertain significance	4	39205667	39205667	Human	1	name
597743258	CV3721449	single nucleotide variant	NM_025132.4(WDR19):c.845C>A (p.Ala282Glu)	Asphyxiating thoracic dystrophy 5 [RCV005039076]	uncertain significance	4	39205691	39205691	Human	1	name
597743265	CV3721450	single nucleotide variant	NM_025132.4(WDR19):c.952G>A (p.Glu318Lys)	Asphyxiating thoracic dystrophy 5 [RCV005039077]	uncertain significance	4	39214662	39214662	Human	1	name
597743641	CV3721474	deletion	NM_025132.4(WDR19):c.2491del (p.Val831fs)	Asphyxiating thoracic dystrophy 5 [RCV005039107]	likely pathogenic	4	39244314	39244314	Human	1	name
597743682	CV3721480	deletion	NM_025132.4(WDR19):c.2716del (p.Glu906fs)	Asphyxiating thoracic dystrophy 5 [RCV005039113]	likely pathogenic	4	39245438	39245438	Human	1	name
597920883	CV3865532	single nucleotide variant	NM_025132.4(WDR19):c.853C>T (p.Gln285Ter)	Asphyxiating thoracic dystrophy 5 [RCV005223477]	pathogenic	4	39205699	39205699	Human	1	name
597896348	CV3865671	single nucleotide variant	NM_025132.4(WDR19):c.3996T>C (p.Cys1332=)	Asphyxiating thoracic dystrophy 5 [RCV005219649]	likely benign	4	39278617	39278617	Human	1	name
597867997	CV3869381	single nucleotide variant	NM_025132.4(WDR19):c.685C>T (p.Gln229Ter)	Asphyxiating thoracic dystrophy 5 [RCV005215311]	pathogenic	4	39205235	39205235	Human	1	name
597907333	CV3870312	single nucleotide variant	NM_025132.4(WDR19):c.3060A>G (p.Glu1020=)	Asphyxiating thoracic dystrophy 5 [RCV005221363]	likely benign	4	39255906	39255906	Human	1	name
597888263	CV3871110	single nucleotide variant	NM_025132.4(WDR19):c.3447C>T (p.Thr1149=)	Asphyxiating thoracic dystrophy 5 [RCV005218442]	likely benign	4	39270064	39270064	Human	1	name
597876219	CV3871415	single nucleotide variant	NM_025132.4(WDR19):c.3162A>G (p.Ala1054=)	Asphyxiating thoracic dystrophy 5 [RCV005216630]	likely benign	4	39257533	39257533	Human	1	name
597903779	CV3873264	duplication	NM_025132.4(WDR19):c.1260dup (p.Leu421fs)	Asphyxiating thoracic dystrophy 5 [RCV005220702]	pathogenic	4	39217138	39217139	Human	1	name
597836605	CV3874478	single nucleotide variant	NM_025132.4(WDR19):c.3621G>A (p.Lys1207=)	Asphyxiating thoracic dystrophy 5 [RCV005210399]	likely benign	4	39274863	39274863	Human	1	name
597860654	CV3874823	single nucleotide variant	NM_025132.4(WDR19):c.3003T>C (p.Gly1001=)	Asphyxiating thoracic dystrophy 5 [RCV005214164]	likely benign	4	39255849	39255849	Human	1	name
597900032	CV3876264	single nucleotide variant	NM_025132.4(WDR19):c.3819T>C (p.Ser1273=)	Asphyxiating thoracic dystrophy 5 [RCV005220154]	likely benign	4	39277122	39277122	Human	1	name
597851179	CV3877055	single nucleotide variant	NM_025132.4(WDR19):c.3915G>A (p.Lys1305=)	Asphyxiating thoracic dystrophy 5 [RCV005228283]	likely benign	4	39278205	39278205	Human	1	name
597929057	CV3879132	single nucleotide variant	NM_025132.4(WDR19):c.3111A>G (p.Ser1037=)	Asphyxiating thoracic dystrophy 5 [RCV005224629]	likely benign	4	39255957	39255957	Human	1	name
597911181	CV3879497	single nucleotide variant	NM_025132.4(WDR19):c.3681T>C (p.Asp1227=)	Asphyxiating thoracic dystrophy 5 [RCV005221898]	likely benign	4	39274923	39274923	Human	1	name
598219451	CV3937001	single nucleotide variant	NM_025132.4(WDR19):c.713A>G (p.Asn238Ser)	Inborn genetic diseases [RCV005293318]	uncertain significance	4	39205263	39205263	Human	1	name
598219457	CV3937002	single nucleotide variant	NM_025132.4(WDR19):c.836C>A (p.Thr279Asn)	Inborn genetic diseases [RCV005293319]	uncertain significance	4	39205682	39205682	Human	1	name
12893445	CV406433	single nucleotide variant	NM_025132.4(WDR19):c.617T>C (p.Leu206Pro)	not provided [RCV000479045]	likely pathogenic	4	39205167	39205167	Human		name
12894844	CV406434	single nucleotide variant	NM_025132.4(WDR19):c.742G>A (p.Gly248Ser)	not provided [RCV000484356]	likely pathogenic	4	39205588	39205588	Human		name
13467192	CV440086	single nucleotide variant	NM_025132.4(WDR19):c.475G>A (p.Asp159Asn)	Type IV short rib polydactyly syndrome [RCV000515949]	pathogenic\|likely pathogenic	4	39199546	39199546	Human	1	name
13467242	CV440087	single nucleotide variant	NM_025132.4(WDR19):c.746T>C (p.Phe249Ser)	Jeune thoracic dystrophy [RCV000515976]	pathogenic\|likely pathogenic	4	39205592	39205592	Human	1	name
13466929	CV440089	single nucleotide variant	NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)	Asphyxiating thoracic dystrophy 5 [RCV001204687]\|Asphyxiating thoracic dystrophy 5 [RCV002476032]\|Jeune thoracic dystrophy [RCV000515807]	pathogenic\|likely pathogenic\|uncertain significance	4	39205663	39205663	Human	2	name
13467379	CV440090	single nucleotide variant	NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)	Asphyxiating thoracic dystrophy 5 [RCV001851417]\|Asphyxiating thoracic dystrophy 5 [RCV005034058]\|Jeune thoracic dystrophy [RCV000516052]	pathogenic\|likely pathogenic	4	39205726	39205726	Human	2	name
13489881	CV453420	single nucleotide variant	NM_025132.4(WDR19):c.3966C>T (p.Asn1322=)	Asphyxiating thoracic dystrophy 5 [RCV000555582]	likely benign	4	39278587	39278587	Human	1	name
13625277	CV520178	deletion	NM_025132.4(WDR19):c.1080del (p.Ile361fs)	Asphyxiating thoracic dystrophy 5 [RCV000653248]	pathogenic	4	39215958	39215958	Human	1	name
14393026	CV549470	single nucleotide variant	NM_025132.4(WDR19):c.974T>C (p.Leu325Ser)	Jeune thoracic dystrophy [RCV000754957]	uncertain significance	4	39215853	39215853	Human	1	name
13831967	CV582464	single nucleotide variant	NM_025132.4(WDR19):c.991G>T (p.Gly331Cys)	not provided [RCV000722652]	uncertain significance	4	39215870	39215870	Human		name
13832183	CV582675	deletion	NM_025132.4(WDR19):c.1809del (p.Val604fs)	not provided [RCV000722867]	uncertain significance	4	39228515	39228515	Human		name
14396991	CV612681	single nucleotide variant	NM_025132.4(WDR19):c.389G>A (p.Arg130Gln)	Asphyxiating thoracic dystrophy 5 [RCV002477749]\|WDR19-related disorder [RCV004735794]\|not provided [RCV000762096]\|not specified [RCV003151145]	uncertain significance	4	39194642	39194642	Human	5	name , alternate_id
14693738	CV620162	single nucleotide variant	NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)	Asphyxiating thoracic dystrophy 5 [RCV001387309]\|Asphyxiating thoracic dystrophy 5 [RCV005036110]\|Cranioectodermal dysplasia 4 [RCV002225117]\|Retinal dystrophy [RCV001074152]\|not provided [RCV001701316]	pathogenic\|likely pathogenic\|uncertain significance	4	39205191	39205191	Human	4	name
14711171	CV632194	single nucleotide variant	NM_025132.4(WDR19):c.959A>T (p.Lys320Ile)	Asphyxiating thoracic dystrophy 5 [RCV000793358]	uncertain significance	4	39214669	39214669	Human	1	name
14730124	CV632197	single nucleotide variant	NM_025132.4(WDR19):c.3936C>T (p.Ser1312=)	Asphyxiating thoracic dystrophy 5 [RCV000817241]	likely benign\|uncertain significance	4	39278557	39278557	Human	1	name
15143663	CV709360	single nucleotide variant	NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)	Asphyxiating thoracic dystrophy 5 [RCV000966705]\|Asphyxiating thoracic dystrophy 5 [RCV001150718]\|Cranioectodermal dysplasia 4 [RCV001150717]\|Nephronophthisis 13 [RCV002245787]\|Senior-Loken syndrome 8 [RCV002245788]	benign\|likely benign	4	39255873	39255873	Human	4	name
15127685	CV734632	single nucleotide variant	NM_025132.4(WDR19):c.3951T>C (p.Cys1317=)	Asphyxiating thoracic dystrophy 5 [RCV002495431]\|Asphyxiating thoracic dystrophy 5 [RCV002540154]	likely benign	4	39278572	39278572	Human	1	name
15164167	CV748937	single nucleotide variant	NM_025132.4(WDR19):c.3624C>T (p.Asn1208=)	Asphyxiating thoracic dystrophy 5 [RCV002502821]\|not provided [RCV000926314]	likely benign	4	39274866	39274866	Human	1	name
15111188	CV748938	single nucleotide variant	NM_025132.4(WDR19):c.3762A>G (p.Pro1254=)	Asphyxiating thoracic dystrophy 5 [RCV000916681]	likely benign	4	39277065	39277065	Human	1	name
21406088	CV799353	single nucleotide variant	NM_025132.4(WDR19):c.490G>A (p.Val164Ile)	Asphyxiating thoracic dystrophy 5 [RCV001044749]\|Asphyxiating thoracic dystrophy 5 [RCV001150371]\|Asphyxiating thoracic dystrophy 5 [RCV005029561]\|Cranioectodermal dysplasia 4 [RCV001150370]\|not provided [RCV001561180]\|not specified [RCV001819714]	uncertain significance	4	39199561	39199561	Human	2	name
26923212	CV829124	single nucleotide variant	NM_025132.4(WDR19):c.802A>T (p.Ile268Leu)	Asphyxiating thoracic dystrophy 5 [RCV001063517]\|Inborn genetic diseases [RCV002554456]	uncertain significance	4	39205648	39205648	Human	2	name
26901905	CV829125	single nucleotide variant	NM_025132.4(WDR19):c.906C>G (p.Asp302Glu)	Asphyxiating thoracic dystrophy 5 [RCV001050043]	uncertain significance	4	39214616	39214616	Human	1	name
26910682	CV856335	single nucleotide variant	NM_025132.4(WDR19):c.302C>A (p.Ser101Tyr)	Asphyxiating thoracic dystrophy 5 [RCV005029683]\|Retinal dystrophy [RCV001075305]	uncertain significance	4	39194555	39194555	Human	3	name
28883801	CV890634	single nucleotide variant	NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)	Asphyxiating thoracic dystrophy 5 [RCV001150369]\|Asphyxiating thoracic dystrophy 5 [RCV001242298]\|Asphyxiating thoracic dystrophy 5 [RCV002491440]\|Cranioectodermal dysplasia 4 [RCV001150368]\|Inborn genetic diseases [RCV003246730]	uncertain significance	4	39199550	39199550	Human	3	name
28883812	CV890635	single nucleotide variant	NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)	Asphyxiating thoracic dystrophy 5 [RCV001144280]\|Asphyxiating thoracic dystrophy 5 [RCV001202820]\|Asphyxiating thoracic dystrophy 5 [RCV002480532]\|Connective tissue disorder [RCV002276635]\|Cranioectodermal dysplasia 4 [RCV001150372]\|WDR19-related disorder [RCV00 ... (more) 4528395]	uncertain significance	4	39205239	39205239	Human	6	name , alternate_id
28903999	CV890636	single nucleotide variant	NM_025132.4(WDR19):c.778C>T (p.His260Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001144281]\|Asphyxiating thoracic dystrophy 5 [RCV002482276]\|Cranioectodermal dysplasia 4 [RCV001144282]\|Inborn genetic diseases [RCV002559390]	uncertain significance	4	39205624	39205624	Human	3	name
28884999	CV890646	single nucleotide variant	NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)	Asphyxiating thoracic dystrophy 5 [RCV001150719]\|Asphyxiating thoracic dystrophy 5 [RCV002557249]\|Cranioectodermal dysplasia 4 [RCV001150720]	likely benign\|uncertain significance	4	39255888	39255888	Human	2	name
38481582	CV932318	single nucleotide variant	NM_025132.4(WDR19):c.333C>A (p.Phe111Leu)	Asphyxiating thoracic dystrophy 5 [RCV001206920]	uncertain significance	4	39194586	39194586	Human	1	name
38486496	CV943980	single nucleotide variant	NM_025132.4(WDR19):c.785G>A (p.Gly262Glu)	Asphyxiating thoracic dystrophy 5 [RCV001236926]\|Asphyxiating thoracic dystrophy 5 [RCV005036517]	uncertain significance	4	39205631	39205631	Human	1	name
38496684	CV943981	single nucleotide variant	NM_025132.4(WDR19):c.806T>C (p.Phe269Ser)	Asphyxiating thoracic dystrophy 5 [RCV001226558]	uncertain significance	4	39205652	39205652	Human	1	name
38474388	CV943982	single nucleotide variant	NM_025132.4(WDR19):c.842T>C (p.Ile281Thr)	Asphyxiating thoracic dystrophy 5 [RCV001232193]\|Asphyxiating thoracic dystrophy 5 [RCV005036506]\|not provided [RCV004793330]	uncertain significance	4	39205688	39205688	Human	1	name
38468647	CV953769	single nucleotide variant	NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys)	Asphyxiating thoracic dystrophy 5 [RCV001248075]\|not provided [RCV004692339]	uncertain significance	4	39205260	39205260	Human	1	name
41405102	CV981464	single nucleotide variant	NM_025132.4(WDR19):c.3303A>G (p.Gln1101=)	not provided [RCV001812394]	likely benign	4	39268036	39268036	Human		name
126767834	CV990110	single nucleotide variant	NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)	Asphyxiating thoracic dystrophy 5 [RCV001302441]\|Asphyxiating thoracic dystrophy 5 [RCV002504454]	uncertain significance	4	39194579	39194579	Human	1	name
126760984	CV990111	single nucleotide variant	NM_025132.4(WDR19):c.343G>A (p.Gly115Arg)	Asphyxiating thoracic dystrophy 5 [RCV001299952]\|Asphyxiating thoracic dystrophy 5 [RCV002493583]	uncertain significance	4	39194596	39194596	Human	1	name
126752102	CV990112	single nucleotide variant	NM_025132.4(WDR19):c.580C>G (p.Arg194Gly)	Asphyxiating thoracic dystrophy 5 [RCV001297655]	uncertain significance	4	39203699	39203699	Human	1	name
126753032	CV990113	single nucleotide variant	NM_025132.4(WDR19):c.592G>A (p.Ala198Thr)	Asphyxiating thoracic dystrophy 5 [RCV001297832]\|Asphyxiating thoracic dystrophy 5 [RCV005029867]	uncertain significance	4	39203711	39203711	Human	1	name
8643084	CV102067	single nucleotide variant	NM_025132.4(WDR19):c.1430G>A (p.Arg477His)	Asphyxiating thoracic dystrophy 5 [RCV001317865]\|Asphyxiating thoracic dystrophy 5 [RCV002490724]\|Inborn genetic diseases [RCV004019576]\|WDR19-related disorder [RCV004734640]\|not provided [RCV000082250]	uncertain significance	4	39218056	39218056	Human	6	name , alternate_id
8657809	CV132653	single nucleotide variant	NM_025132.4(WDR19):c.1477G>C (p.Asp493His)	Asphyxiating thoracic dystrophy 5 [RCV001854543]\|Nephronophthisis 13 [RCV001281114]\|Senior-Loken syndrome 8 [RCV000115011]\|not provided [RCV001753491]	pathogenic\|likely pathogenic\|uncertain significance	4	39218103	39218103	Human	3	name
151805821	CV1340124	single nucleotide variant	NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys)	Asphyxiating thoracic dystrophy 5 [RCV001867543]\|Asphyxiating thoracic dystrophy 5 [RCV002482559]	uncertain significance	4	39253983	39253983	Human	1	name
151781219	CV1341856	single nucleotide variant	NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys)	Asphyxiating thoracic dystrophy 5 [RCV001897257]\|Asphyxiating thoracic dystrophy 5 [RCV005038430]	uncertain significance	4	39253201	39253201	Human	1	name
151796069	CV1347737	single nucleotide variant	NM_025132.4(WDR19):c.2618C>T (p.Ala873Val)	Asphyxiating thoracic dystrophy 5 [RCV001990516]\|Asphyxiating thoracic dystrophy 5 [RCV002484837]	uncertain significance	4	39244525	39244525	Human	1	name
151785941	CV1348849	single nucleotide variant	NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp)	Asphyxiating thoracic dystrophy 5 [RCV001897688]	uncertain significance	4	39228652	39228652	Human	1	name
151811315	CV1350454	single nucleotide variant	NM_025132.4(WDR19):c.2347A>G (p.Ile783Val)	Asphyxiating thoracic dystrophy 5 [RCV002048880]	uncertain significance	4	39234859	39234859	Human	1	name
151823397	CV1352215	single nucleotide variant	NM_025132.4(WDR19):c.1537C>A (p.His513Asn)	Asphyxiating thoracic dystrophy 5 [RCV002013616]	uncertain significance	4	39224941	39224941	Human	1	name
151843038	CV1357827	single nucleotide variant	NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu)	Asphyxiating thoracic dystrophy 5 [RCV001881591]	uncertain significance	4	39244536	39244536	Human	1	name
151843397	CV1363288	single nucleotide variant	NM_025132.4(WDR19):c.2779G>A (p.Val927Ile)	Asphyxiating thoracic dystrophy 5 [RCV002032092]\|Asphyxiating thoracic dystrophy 5 [RCV002486793]	uncertain significance	4	39253195	39253195	Human	1	name
151781082	CV1363939	single nucleotide variant	NM_025132.4(WDR19):c.2472G>A (p.Met824Ile)	Asphyxiating thoracic dystrophy 5 [RCV001864968]	uncertain significance	4	39244298	39244298	Human	1	name
151801172	CV1365885	single nucleotide variant	NM_025132.4(WDR19):c.1342G>A (p.Val448Ile)	Asphyxiating thoracic dystrophy 5 [RCV001917730]	uncertain significance	4	39217226	39217226	Human	1	name
151862964	CV1368238	single nucleotide variant	NM_025132.4(WDR19):c.1391G>A (p.Arg464His)	Asphyxiating thoracic dystrophy 5 [RCV001905535]\|Asphyxiating thoracic dystrophy 5 [RCV002478244]\|Inborn genetic diseases [RCV004041364]	uncertain significance	4	39218017	39218017	Human	2	name
151811849	CV1376765	single nucleotide variant	NM_025132.4(WDR19):c.1385A>T (p.Glu462Val)	Asphyxiating thoracic dystrophy 5 [RCV001900030]	uncertain significance	4	39218011	39218011	Human	1	name
151819770	CV1378270	single nucleotide variant	NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg)	Asphyxiating thoracic dystrophy 5 [RCV002029775]\|Asphyxiating thoracic dystrophy 5 [RCV002506871]\|Inborn genetic diseases [RCV004681259]	uncertain significance	4	39215895	39215895	Human	2	name
151861673	CV1386306	single nucleotide variant	NM_025132.4(WDR19):c.1012A>T (p.Thr338Ser)	Asphyxiating thoracic dystrophy 5 [RCV001905360]	uncertain significance	4	39215891	39215891	Human	1	name
151728632	CV1388669	single nucleotide variant	NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala)	Asphyxiating thoracic dystrophy 5 [RCV001966881]	uncertain significance	4	39228659	39228659	Human	1	name
151799648	CV1396568	single nucleotide variant	NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser)	Asphyxiating thoracic dystrophy 5 [RCV001917594]	uncertain significance	4	39216000	39216000	Human	1	name
151820248	CV1398200	single nucleotide variant	NM_025132.4(WDR19):c.2978T>C (p.Met993Thr)	Asphyxiating thoracic dystrophy 5 [RCV002013303]	uncertain significance	4	39254007	39254007	Human	1	name
151878943	CV1398600	single nucleotide variant	NM_025132.4(WDR19):c.2479A>G (p.Ile827Val)	Asphyxiating thoracic dystrophy 5 [RCV002019892]	uncertain significance	4	39244305	39244305	Human	1	name
151743277	CV1401332	single nucleotide variant	NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile)	Asphyxiating thoracic dystrophy 5 [RCV001947313]	uncertain significance	4	39228627	39228627	Human	1	name
151764549	CV1407683	single nucleotide variant	NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg)	Asphyxiating thoracic dystrophy 5 [RCV002044647]	uncertain significance	4	39232256	39232256	Human	1	name
151870799	CV1413390	single nucleotide variant	NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser)	Asphyxiating thoracic dystrophy 5 [RCV001998307]	uncertain significance	4	39228291	39228291	Human	1	name
151870929	CV1413456	single nucleotide variant	NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro)	Asphyxiating thoracic dystrophy 5 [RCV001998324]\|Nephronophthisis 13 [RCV004577559]	uncertain significance	4	39231807	39231807	Human	2	name
151839860	CV1415290	single nucleotide variant	NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp)	Asphyxiating thoracic dystrophy 5 [RCV001921404]\|Asphyxiating thoracic dystrophy 5 [RCV005031904]	uncertain significance	4	39232272	39232272	Human	1	name
151729741	CV1416647	single nucleotide variant	NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr)	Asphyxiating thoracic dystrophy 5 [RCV002004645]	uncertain significance	4	39253244	39253244	Human	1	name
151809253	CV1418015	single nucleotide variant	NM_025132.4(WDR19):c.2450T>A (p.Val817Glu)	Asphyxiating thoracic dystrophy 5 [RCV001867840]\|Asphyxiating thoracic dystrophy 5 [RCV002478174]	uncertain significance	4	39244276	39244276	Human	1	name
151841691	CV1423802	single nucleotide variant	NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe)	Asphyxiating thoracic dystrophy 5 [RCV001977772]	uncertain significance	4	39245404	39245404	Human	1	name
151762094	CV1433783	single nucleotide variant	NM_025132.4(WDR19):c.2521G>A (p.Val841Ile)	Asphyxiating thoracic dystrophy 5 [RCV002024493]	uncertain significance	4	39244347	39244347	Human	1	name
151846376	CV1434699	single nucleotide variant	NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro)	Asphyxiating thoracic dystrophy 5 [RCV001922172]	uncertain significance	4	39232186	39232186	Human	1	name
151832979	CV1439277	single nucleotide variant	NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys)	Asphyxiating thoracic dystrophy 5 [RCV001976830]\|Asphyxiating thoracic dystrophy 5 [RCV002479650]\|Inborn genetic diseases [RCV003303556]	uncertain significance	4	39244281	39244281	Human	2	name
151767797	CV1450701	single nucleotide variant	NM_025132.4(WDR19):c.1342G>C (p.Val448Leu)	Asphyxiating thoracic dystrophy 5 [RCV001929224]	uncertain significance	4	39217226	39217226	Human	1	name
151777489	CV1452854	single nucleotide variant	NM_025132.4(WDR19):c.1931C>T (p.Thr644Met)	Asphyxiating thoracic dystrophy 5 [RCV001875049]\|not provided [RCV003438884]	uncertain significance	4	39228639	39228639	Human	1	name
151872986	CV1467169	single nucleotide variant	NM_025132.4(WDR19):c.2066T>C (p.Met689Thr)	Asphyxiating thoracic dystrophy 5 [RCV001925455]\|Asphyxiating thoracic dystrophy 5 [RCV002482809]\|not provided [RCV004693919]	uncertain significance	4	39231880	39231880	Human	1	name
151873408	CV1467354	single nucleotide variant	NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile)	Asphyxiating thoracic dystrophy 5 [RCV001925503]\|Asphyxiating thoracic dystrophy 5 [RCV002478330]	uncertain significance	4	39232208	39232208	Human	1	name
151781882	CV1468961	single nucleotide variant	NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser)	Asphyxiating thoracic dystrophy 5 [RCV002026338]	uncertain significance	4	39232255	39232255	Human	1	name
151883783	CV1476719	single nucleotide variant	NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys)	Asphyxiating thoracic dystrophy 5 [RCV001887010]\|Asphyxiating thoracic dystrophy 5 [RCV005038445]\|Inborn genetic diseases [RCV005298917]\|not provided [RCV003434343]	uncertain significance	4	39244539	39244539	Human	2	name
151777953	CV1476943	single nucleotide variant	NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp)	Asphyxiating thoracic dystrophy 5 [RCV001896967]	uncertain significance	4	39240290	39240290	Human	1	name
151743149	CV1478265	single nucleotide variant	NM_025132.4(WDR19):c.2404A>G (p.Ile802Val)	Asphyxiating thoracic dystrophy 5 [RCV002006016]	uncertain significance	4	39240317	39240317	Human	1	name
151766288	CV1485935	single nucleotide variant	NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr)	Asphyxiating thoracic dystrophy 5 [RCV002044808]	uncertain significance	4	39228627	39228627	Human	1	name
151768483	CV1486188	single nucleotide variant	NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu)	Asphyxiating thoracic dystrophy 5 [RCV002045007]	uncertain significance	4	39253909	39253909	Human	1	name
151721479	CV1489488	single nucleotide variant	NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile)	Asphyxiating thoracic dystrophy 5 [RCV001891170]	uncertain significance	4	39217211	39217211	Human	1	name
151881677	CV1500057	single nucleotide variant	NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr)	Asphyxiating thoracic dystrophy 5 [RCV001886582]	uncertain significance	4	39253937	39253937	Human	1	name
151837995	CV1501294	single nucleotide variant	NM_025132.4(WDR19):c.1150G>A (p.Val384Ile)	Asphyxiating thoracic dystrophy 5 [RCV001977359]	uncertain significance	4	39216111	39216111	Human	1	name
151756557	CV1513657	single nucleotide variant	NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr)	Asphyxiating thoracic dystrophy 5 [RCV001928037]\|Asphyxiating thoracic dystrophy 5 [RCV002507029]	uncertain significance	4	39216129	39216129	Human	1	name
152982075	CV1679035	single nucleotide variant	NM_025132.4(WDR19):c.1483G>T (p.Gly495Cys)	Senior-Loken syndrome 8 [RCV002248393]	pathogenic	4	39224887	39224887	Human	1	name
152982076	CV1679036	single nucleotide variant	NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro)	Nephronophthisis 13 [RCV002248394]	pathogenic	4	39228561	39228561	Human	1	name
153347850	CV1694898	single nucleotide variant	NM_025132.4(WDR19):c.2932A>G (p.Lys978Glu)	Connective tissue disorder [RCV002278829]	uncertain significance	4	39253961	39253961	Human	1	name
155704609	CV1771286	single nucleotide variant	NM_025132.4(WDR19):c.2083A>G (p.Ile695Val)	Asphyxiating thoracic dystrophy 5 [RCV002295780]	uncertain significance	4	39231897	39231897	Human	1	name
9693459	CV177355	single nucleotide variant	NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)	Asphyxiating thoracic dystrophy 5 [RCV000278329]\|Asphyxiating thoracic dystrophy 5 [RCV001083264]\|Connective tissue disorder [RCV002277304]\|Cranioectodermal dysplasia 4 [RCV000317115]\|Inborn genetic diseases [RCV002516102]\|WDR19-related disorder [RCV004532742]\|n ... (more) ot provided [RCV000723861]\|not specified [RCV000154140]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39253208	39253208	Human	5	name , alternate_id
155749543	CV1773953	single nucleotide variant	NM_025132.4(WDR19):c.1541C>A (p.Pro514His)	Asphyxiating thoracic dystrophy 5 [RCV002304760]	uncertain significance	4	39224945	39224945	Human	1	name
155674797	CV1774320	single nucleotide variant	NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr)	Asphyxiating thoracic dystrophy 5 [RCV002297721]	uncertain significance	4	39215949	39215949	Human	1	name
155741002	CV1777143	single nucleotide variant	NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn)	Asphyxiating thoracic dystrophy 5 [RCV002302402]	uncertain significance	4	39253963	39253963	Human	1	name
155706055	CV1778283	single nucleotide variant	NM_025132.4(WDR19):c.2056C>G (p.Leu686Val)	Asphyxiating thoracic dystrophy 5 [RCV002295916]	uncertain significance	4	39231870	39231870	Human	1	name
155706689	CV1778368	single nucleotide variant	NM_025132.4(WDR19):c.2869G>A (p.Val957Ile)	Asphyxiating thoracic dystrophy 5 [RCV002295986]	uncertain significance	4	39253285	39253285	Human	1	name
156407637	CV1868744	single nucleotide variant	NM_025132.4(WDR19):c.2633G>A (p.Arg878His)	Asphyxiating thoracic dystrophy 5 [RCV003070949]\|Inborn genetic diseases [RCV004070208]	uncertain significance	4	39244540	39244540	Human	2	name
156374577	CV1871717	single nucleotide variant	NM_025132.4(WDR19):c.2414A>T (p.Asp805Val)	Asphyxiating thoracic dystrophy 5 [RCV003066596]	uncertain significance	4	39240327	39240327	Human	1	name
156016451	CV1885260	single nucleotide variant	NM_025132.4(WDR19):c.2743G>C (p.Val915Leu)	Asphyxiating thoracic dystrophy 5 [RCV003077388]	uncertain significance	4	39253159	39253159	Human	1	name
156247880	CV1890626	single nucleotide variant	NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu)	Asphyxiating thoracic dystrophy 5 [RCV003085994]	uncertain significance	4	39232204	39232204	Human	1	name
156002831	CV1895688	single nucleotide variant	NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)	Asphyxiating thoracic dystrophy 5 [RCV003098882]\|Asphyxiating thoracic dystrophy 5 [RCV005034684]	uncertain significance	4	39245414	39245414	Human	1	name
156417732	CV1910045	single nucleotide variant	NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)	Asphyxiating thoracic dystrophy 5 [RCV002610895]\|Asphyxiating thoracic dystrophy 5 [RCV005034746]	uncertain significance	4	39234797	39234797	Human	1	name
156102513	CV1916982	single nucleotide variant	NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)	Asphyxiating thoracic dystrophy 5 [RCV002592328]	uncertain significance	4	39244329	39244329	Human	1	name
156153311	CV1926014	single nucleotide variant	NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)	Asphyxiating thoracic dystrophy 5 [RCV002624084]	uncertain significance	4	39228310	39228310	Human	1	name
156125099	CV1930415	single nucleotide variant	NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)	Asphyxiating thoracic dystrophy 5 [RCV002640482]	uncertain significance	4	39244312	39244312	Human	1	name
156440852	CV1940578	single nucleotide variant	NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)	Asphyxiating thoracic dystrophy 5 [RCV003110895]\|Inborn genetic diseases [RCV004244550]	uncertain significance	4	39244311	39244311	Human	2	name
155962968	CV1943686	single nucleotide variant	NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)	Asphyxiating thoracic dystrophy 5 [RCV002512454]\|Asphyxiating thoracic dystrophy 5 [RCV005032293]	uncertain significance	4	39254016	39254016	Human	1	name
156258684	CV1957254	single nucleotide variant	NM_025132.4(WDR19):c.1241G>A (p.Gly414Glu)	Asphyxiating thoracic dystrophy 5 [RCV002576770]	uncertain significance	4	39216202	39216202	Human	1	name
156392048	CV1986362	single nucleotide variant	NM_025132.4(WDR19):c.2146A>G (p.Ile716Val)	Asphyxiating thoracic dystrophy 5 [RCV002604759]\|Inborn genetic diseases [RCV002604760]	uncertain significance	4	39232165	39232165	Human	2	name
156111596	CV1997072	single nucleotide variant	NM_025132.4(WDR19):c.2483G>A (p.Arg828His)	Asphyxiating thoracic dystrophy 5 [RCV002662511]\|WDR19-related disorder [RCV004545361]	uncertain significance	4	39244309	39244309	Human	2	name , alternate_id
156321724	CV2022125	single nucleotide variant	NM_025132.4(WDR19):c.2749G>A (p.Ala917Thr)	Asphyxiating thoracic dystrophy 5 [RCV002717135]	uncertain significance	4	39253165	39253165	Human	1	name
155962306	CV2036743	single nucleotide variant	NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr)	Asphyxiating thoracic dystrophy 5 [RCV002776325]\|Inborn genetic diseases [RCV004966112]	uncertain significance	4	39228352	39228352	Human	2	name
156011961	CV2039360	single nucleotide variant	NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro)	Asphyxiating thoracic dystrophy 5 [RCV002756734]	uncertain significance	4	39231871	39231871	Human	1	name
156016263	CV2044073	single nucleotide variant	NM_025132.4(WDR19):c.2833G>A (p.Val945Ile)	Asphyxiating thoracic dystrophy 5 [RCV002795363]	uncertain significance	4	39253249	39253249	Human	1	name
156294981	CV2047427	single nucleotide variant	NM_025132.4(WDR19):c.1732G>A (p.Asp578Asn)	Asphyxiating thoracic dystrophy 5 [RCV002770933]	uncertain significance	4	39228312	39228312	Human	1	name
156008609	CV2054468	single nucleotide variant	NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg)	Asphyxiating thoracic dystrophy 5 [RCV002820001]	uncertain significance	4	39244306	39244306	Human	1	name
155988157	CV2056359	single nucleotide variant	NM_025132.4(WDR19):c.1352A>G (p.His451Arg)	Asphyxiating thoracic dystrophy 5 [RCV002819077]	uncertain significance	4	39217236	39217236	Human	1	name
156031773	CV2059176	single nucleotide variant	NM_025132.4(WDR19):c.2183T>A (p.Met728Lys)	Asphyxiating thoracic dystrophy 5 [RCV002796082]	uncertain significance	4	39232202	39232202	Human	1	name
156177632	CV2061144	single nucleotide variant	NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser)	Asphyxiating thoracic dystrophy 5 [RCV002802156]	uncertain significance	4	39232220	39232220	Human	1	name
155945683	CV2062185	single nucleotide variant	NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln)	Asphyxiating thoracic dystrophy 5 [RCV002815967]	uncertain significance	4	39244248	39244248	Human	1	name
156228813	CV2064509	single nucleotide variant	NM_025132.4(WDR19):c.2248C>G (p.Leu750Val)	Asphyxiating thoracic dystrophy 5 [RCV002829969]	uncertain significance	4	39232267	39232267	Human	1	name
156007437	CV2064957	single nucleotide variant	NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys)	Asphyxiating thoracic dystrophy 5 [RCV002843693]	uncertain significance	4	39231837	39231837	Human	1	name
155940367	CV2068057	single nucleotide variant	NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)	Asphyxiating thoracic dystrophy 5 [RCV002839364]	uncertain significance	4	39244309	39244309	Human	1	name
155985341	CV2070349	single nucleotide variant	NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp)	Asphyxiating thoracic dystrophy 5 [RCV002842713]	uncertain significance	4	39231928	39231928	Human	1	name
156216866	CV2070701	deletion	NM_025132.4(WDR19):c.3457del (p.Ile1153fs)	Asphyxiating thoracic dystrophy 5 [RCV002829532]	pathogenic	4	39270074	39270074	Human	1	name
156141179	CV2090656	single nucleotide variant	NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala)	Asphyxiating thoracic dystrophy 5 [RCV002890311]	uncertain significance	4	39253232	39253232	Human	1	name
156008520	CV2099896	single nucleotide variant	NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn)	Asphyxiating thoracic dystrophy 5 [RCV002908975]	uncertain significance	4	39228564	39228564	Human	1	name
156021485	CV2105740	single nucleotide variant	NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg)	Asphyxiating thoracic dystrophy 5 [RCV002923086]	uncertain significance	4	39216103	39216103	Human	1	name
156113794	CV2117434	single nucleotide variant	NM_025132.4(WDR19):c.1400G>A (p.Arg467Gln)	Asphyxiating thoracic dystrophy 5 [RCV002953227]\|Asphyxiating thoracic dystrophy 5 [RCV005034509]	likely benign\|uncertain significance	4	39218026	39218026	Human	1	name
155953689	CV2123685	single nucleotide variant	NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)	Asphyxiating thoracic dystrophy 5 [RCV002972004]\|Asphyxiating thoracic dystrophy 5 [RCV005034531]	uncertain significance	4	39231808	39231808	Human	1	name
156021775	CV2141345	single nucleotide variant	NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn)	Asphyxiating thoracic dystrophy 5 [RCV002976188]	uncertain significance	4	39240326	39240326	Human	1	name
155920175	CV2148330	single nucleotide variant	NM_025132.4(WDR19):c.2589T>G (p.Tyr863Ter)	Asphyxiating thoracic dystrophy 5 [RCV003013147]	pathogenic	4	39244496	39244496	Human	1	name
156118998	CV2150754	single nucleotide variant	NM_025132.4(WDR19):c.2203C>G (p.Leu735Val)	Asphyxiating thoracic dystrophy 5 [RCV003021721]	uncertain significance	4	39232222	39232222	Human	1	name
156148914	CV2154318	single nucleotide variant	NM_025132.4(WDR19):c.1681G>A (p.Val561Ile)	Asphyxiating thoracic dystrophy 5 [RCV003022783]	uncertain significance	4	39228261	39228261	Human	1	name
156082953	CV2169147	single nucleotide variant	NM_025132.4(WDR19):c.2305T>G (p.Leu769Val)	Asphyxiating thoracic dystrophy 5 [RCV003037947]	uncertain significance	4	39234817	39234817	Human	1	name
156170173	CV2169860	single nucleotide variant	NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)	Asphyxiating thoracic dystrophy 5 [RCV003023488]	uncertain significance	4	39244377	39244377	Human	1	name
156327070	CV2170451	single nucleotide variant	NM_025132.4(WDR19):c.1427G>C (p.Cys476Ser)	Asphyxiating thoracic dystrophy 5 [RCV003029551]	uncertain significance	4	39218053	39218053	Human	1	name
156363418	CV2170657	single nucleotide variant	NM_025132.4(WDR19):c.1778G>A (p.Gly593Glu)	Asphyxiating thoracic dystrophy 5 [RCV003031723]	uncertain significance	4	39228486	39228486	Human	1	name
156179190	CV2177666	single nucleotide variant	NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly)	Asphyxiating thoracic dystrophy 5 [RCV003057473]	uncertain significance	4	39240294	39240294	Human	1	name
156322692	CV2179024	single nucleotide variant	NM_025132.4(WDR19):c.1262T>G (p.Leu421Trp)	Asphyxiating thoracic dystrophy 5 [RCV003046720]	uncertain significance	4	39217146	39217146	Human	1	name
156224871	CV2183947	single nucleotide variant	NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp)	Asphyxiating thoracic dystrophy 5 [RCV003025337]	uncertain significance	4	39240324	39240324	Human	1	name
156182727	CV2201910	single nucleotide variant	NM_025132.4(WDR19):c.2287C>A (p.Leu763Ile)	Inborn genetic diseases [RCV002665402]	uncertain significance	4	39234799	39234799	Human	1	name
155962184	CV2254359	single nucleotide variant	NM_025132.4(WDR19):c.2900A>G (p.Tyr967Cys)	Inborn genetic diseases [RCV002816942]	uncertain significance	4	39253929	39253929	Human	1	name
156042491	CV2261461	single nucleotide variant	NM_025132.4(WDR19):c.2612A>C (p.Lys871Thr)	Inborn genetic diseases [RCV002821834]	uncertain significance	4	39244519	39244519	Human	1	name
156047467	CV2319166	single nucleotide variant	NM_025132.4(WDR19):c.2735A>G (p.Lys912Arg)	Inborn genetic diseases [RCV002949914]	uncertain significance	4	39253151	39253151	Human	1	name
156435681	CV2402965	single nucleotide variant	NM_025132.4(WDR19):c.1454G>T (p.Ser485Ile)	Stargardt-like macular dystrophy [RCV003126393]	uncertain significance	4	39218080	39218080	Human		name
329369730	CV2461200	single nucleotide variant	NM_025132.4(WDR19):c.1426T>C (p.Cys476Arg)	Inborn genetic diseases [RCV003209126]	uncertain significance	4	39218052	39218052	Human	1	name
329954378	CV2669049	single nucleotide variant	NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)	Senior-Loken syndrome 8 [RCV003232885]	uncertain significance	4	39215889	39215889	Human	1	name
329954379	CV2669050	single nucleotide variant	NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)	Senior-Loken syndrome 8 [RCV003232886]	uncertain significance	4	39253926	39253926	Human	1	name
329951714	CV2671345	single nucleotide variant	NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)	Cranioectodermal dysplasia 4 [RCV003234977]	likely pathogenic	4	39253916	39253916	Human	1	name
401723346	CV2737814	single nucleotide variant	NM_025132.4(WDR19):c.2686A>G (p.Lys896Glu)	not provided [RCV003314986]	uncertain significance	4	39245409	39245409	Human		name
401875524	CV2750009	single nucleotide variant	NM_025132.4(WDR19):c.1304T>G (p.Leu435Arg)	Nephronophthisis 13 [RCV003333425]	uncertain significance	4	39217188	39217188	Human	1	name
401861904	CV2766489	single nucleotide variant	NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)	Asphyxiating thoracic dystrophy 5 [RCV005036757]\|Inborn genetic diseases [RCV003342954]	uncertain significance	4	39216178	39216178	Human	2	name
401870481	CV2769269	single nucleotide variant	NM_025132.4(WDR19):c.1569C>A (p.Asp523Glu)	Inborn genetic diseases [RCV003346152]	uncertain significance	4	39224973	39224973	Human	1	name
401919676	CV2794925	single nucleotide variant	NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter)	Nephronophthisis 13 [RCV003388671]	likely pathogenic	4	39215894	39215894	Human	1	name
405867379	CV2842818	single nucleotide variant	NM_025132.4(WDR19):c.2489G>A (p.Gly830Glu)	Nephronophthisis 13 [RCV004577621]	uncertain significance	4	39244315	39244315	Human	1	name
405028708	CV3082526	single nucleotide variant	NM_025132.4(WDR19):c.1954A>G (p.Met652Val)	Asphyxiating thoracic dystrophy 5 [RCV003785977]\|Inborn genetic diseases [RCV004366518]	uncertain significance	4	39228662	39228662	Human	2	name
402509776	CV3086996	single nucleotide variant	NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)	Asphyxiating thoracic dystrophy 5 [RCV003789506]	pathogenic	4	39224938	39224938	Human	1	name
402508153	CV3090699	single nucleotide variant	NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)	Asphyxiating thoracic dystrophy 5 [RCV003789315]	uncertain significance	4	39244261	39244261	Human	1	name
405017182	CV3100725	single nucleotide variant	NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)	Asphyxiating thoracic dystrophy 5 [RCV003805473]	pathogenic	4	39234789	39234789	Human	1	name
405019872	CV3100971	single nucleotide variant	NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)	Asphyxiating thoracic dystrophy 5 [RCV003805719]	pathogenic	4	39234788	39234788	Human	1	name
405022541	CV3101425	single nucleotide variant	NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)	Asphyxiating thoracic dystrophy 5 [RCV003806004]	uncertain significance	4	39228238	39228238	Human	1	name
405025889	CV3101859	single nucleotide variant	NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)	Asphyxiating thoracic dystrophy 5 [RCV003806265]	pathogenic	4	39253187	39253187	Human	1	name
405042992	CV3103741	single nucleotide variant	NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)	Asphyxiating thoracic dystrophy 5 [RCV003797459]	pathogenic	4	39253188	39253188	Human	1	name
405166356	CV3107132	single nucleotide variant	NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)	Asphyxiating thoracic dystrophy 5 [RCV003802623]	uncertain significance	4	39240299	39240299	Human	1	name
405013848	CV3114290	single nucleotide variant	NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)	Asphyxiating thoracic dystrophy 5 [RCV003805144]	uncertain significance	4	39244498	39244498	Human	1	name
405802260	CV3349163	single nucleotide variant	NM_025132.4(WDR19):c.1501T>G (p.Tyr501Asp)	Inborn genetic diseases [RCV004478238]	uncertain significance	4	39224905	39224905	Human	1	name
405802263	CV3349164	single nucleotide variant	NM_025132.4(WDR19):c.1645T>C (p.Tyr549His)	Inborn genetic diseases [RCV004478239]	uncertain significance	4	39228225	39228225	Human	1	name
405802265	CV3349165	single nucleotide variant	NM_025132.4(WDR19):c.2482C>T (p.Arg828Cys)	Inborn genetic diseases [RCV004478240]	uncertain significance	4	39244308	39244308	Human	1	name
405802269	CV3349167	single nucleotide variant	NM_025132.4(WDR19):c.2674G>C (p.Val892Leu)	Inborn genetic diseases [RCV004478242]	uncertain significance	4	39245397	39245397	Human	1	name
596941920	CV3408307	single nucleotide variant	NM_025132.4(WDR19):c.1580C>A (p.Thr527Asn)	Retinal dystrophy [RCV004815978]	uncertain significance	4	39224984	39224984	Human	2	name
596944505	CV3408920	single nucleotide variant	NM_025132.4(WDR19):c.2405T>A (p.Ile802Lys)	Optic atrophy [RCV004817573]	uncertain significance	4	39240318	39240318	Human	2	name
596944543	CV3408935	single nucleotide variant	NM_025132.4(WDR19):c.1169C>A (p.Pro390His)	Optic atrophy [RCV004817588]	uncertain significance	4	39216130	39216130	Human	2	name
407523727	CV3489703	single nucleotide variant	NM_025132.4(WDR19):c.2609A>T (p.Asp870Val)	Inborn genetic diseases [RCV004678162]	uncertain significance	4	39244516	39244516	Human	1	name
407465258	CV3489706	single nucleotide variant	NM_025132.4(WDR19):c.1228T>C (p.Phe410Leu)	Inborn genetic diseases [RCV004688721]	uncertain significance	4	39216189	39216189	Human	1	name
408386398	CV3528906	single nucleotide variant	NM_025132.4(WDR19):c.2318A>G (p.Gln773Arg)	not provided [RCV004772739]	uncertain significance	4	39234830	39234830	Human		name
596930296	CV3531448	single nucleotide variant	NM_025132.4(WDR19):c.2993A>G (p.Asp998Gly)	not provided [RCV004780022]	uncertain significance	4	39254022	39254022	Human		name
596925197	CV3541802	single nucleotide variant	NM_025132.4(WDR19):c.1484G>A (p.Gly495Asp)	Asphyxiating thoracic dystrophy 5 [RCV004795513]	likely pathogenic	4	39224888	39224888	Human	1	name
596945536	CV3547874	single nucleotide variant	NM_025132.4(WDR19):c.2378A>C (p.Asn793Thr)	Inborn genetic diseases [RCV005291125]\|not provided [RCV004809205]	uncertain significance	4	39240291	39240291	Human	1	name
597628043	CV3633468	single nucleotide variant	NM_025132.4(WDR19):c.1388A>G (p.Glu463Gly)	Asphyxiating thoracic dystrophy 5 [RCV005038883]\|Inborn genetic diseases [RCV004967334]	uncertain significance	4	39218014	39218014	Human	2	name
597630521	CV3633471	single nucleotide variant	NM_025132.4(WDR19):c.2743G>A (p.Val915Ile)	Inborn genetic diseases [RCV004967337]	uncertain significance	4	39253159	39253159	Human	1	name
597630535	CV3633474	single nucleotide variant	NM_025132.4(WDR19):c.1246A>G (p.Asn416Asp)	Inborn genetic diseases [RCV004967340]	uncertain significance	4	39216207	39216207	Human	1	name
597630540	CV3633475	single nucleotide variant	NM_025132.4(WDR19):c.1382A>C (p.Gln461Pro)	Inborn genetic diseases [RCV004967341]	uncertain significance	4	39218008	39218008	Human	1	name
597743300	CV3721454	single nucleotide variant	NM_025132.4(WDR19):c.1174T>G (p.Phe392Val)	Asphyxiating thoracic dystrophy 5 [RCV005039082]	uncertain significance	4	39216135	39216135	Human	1	name
597743322	CV3721455	single nucleotide variant	NM_025132.4(WDR19):c.1314C>G (p.Asp438Glu)	Asphyxiating thoracic dystrophy 5 [RCV005039085]	uncertain significance	4	39217198	39217198	Human	1	name
597743328	CV3721456	single nucleotide variant	NM_025132.4(WDR19):c.1379C>T (p.Ala460Val)	Asphyxiating thoracic dystrophy 5 [RCV005039086]	uncertain significance	4	39218005	39218005	Human	1	name
597743335	CV3721457	single nucleotide variant	NM_025132.4(WDR19):c.1417G>A (p.Asp473Asn)	Asphyxiating thoracic dystrophy 5 [RCV005039087]	uncertain significance	4	39218043	39218043	Human	1	name
597743343	CV3721458	single nucleotide variant	NM_025132.4(WDR19):c.1472G>A (p.Gly491Asp)	Asphyxiating thoracic dystrophy 5 [RCV005039088]	uncertain significance	4	39218098	39218098	Human	1	name
597743356	CV3721459	single nucleotide variant	NM_025132.4(WDR19):c.1502A>G (p.Tyr501Cys)	Asphyxiating thoracic dystrophy 5 [RCV005039090]	uncertain significance	4	39224906	39224906	Human	1	name
597743372	CV3721461	single nucleotide variant	NM_025132.4(WDR19):c.1768A>G (p.Thr590Ala)	Asphyxiating thoracic dystrophy 5 [RCV005039092]	uncertain significance	4	39228348	39228348	Human	1	name
597743379	CV3721462	single nucleotide variant	NM_025132.4(WDR19):c.1833G>C (p.Leu611Phe)	Asphyxiating thoracic dystrophy 5 [RCV005039093]	uncertain significance	4	39228541	39228541	Human	1	name
597743387	CV3721463	single nucleotide variant	NM_025132.4(WDR19):c.1994C>A (p.Ala665Asp)	Asphyxiating thoracic dystrophy 5 [RCV005039094]	uncertain significance	4	39231808	39231808	Human	1	name
597743393	CV3721464	single nucleotide variant	NM_025132.4(WDR19):c.2004G>A (p.Met668Ile)	Asphyxiating thoracic dystrophy 5 [RCV005039095]	uncertain significance	4	39231818	39231818	Human	1	name
597743400	CV3721465	single nucleotide variant	NM_025132.4(WDR19):c.2051C>G (p.Ala684Gly)	Asphyxiating thoracic dystrophy 5 [RCV005039096]	uncertain significance	4	39231865	39231865	Human	1	name
597743413	CV3721466	single nucleotide variant	NM_025132.4(WDR19):c.2149G>C (p.Glu717Gln)	Asphyxiating thoracic dystrophy 5 [RCV005039098]	uncertain significance	4	39232168	39232168	Human	1	name
597743420	CV3721467	single nucleotide variant	NM_025132.4(WDR19):c.2196T>G (p.Asp732Glu)	Asphyxiating thoracic dystrophy 5 [RCV005039099]	uncertain significance	4	39232215	39232215	Human	1	name
597743427	CV3721468	single nucleotide variant	NM_025132.4(WDR19):c.2233T>G (p.Cys745Gly)	Asphyxiating thoracic dystrophy 5 [RCV005039100]	uncertain significance	4	39232252	39232252	Human	1	name
597743435	CV3721469	single nucleotide variant	NM_025132.4(WDR19):c.2341T>C (p.Tyr781His)	Asphyxiating thoracic dystrophy 5 [RCV005039101]	uncertain significance	4	39234853	39234853	Human	1	name
597743648	CV3721475	single nucleotide variant	NM_025132.4(WDR19):c.2519G>A (p.Arg840Lys)	Asphyxiating thoracic dystrophy 5 [RCV005039108]	uncertain significance	4	39244345	39244345	Human	1	name
597743655	CV3721476	single nucleotide variant	NM_025132.4(WDR19):c.2528A>G (p.Lys843Arg)	Asphyxiating thoracic dystrophy 5 [RCV005039109]	uncertain significance	4	39244354	39244354	Human	1	name
597743662	CV3721477	single nucleotide variant	NM_025132.4(WDR19):c.2558T>C (p.Met853Thr)	Asphyxiating thoracic dystrophy 5 [RCV005039110]	uncertain significance	4	39244384	39244384	Human	1	name
597743669	CV3721478	single nucleotide variant	NM_025132.4(WDR19):c.2599C>G (p.Leu867Val)	Asphyxiating thoracic dystrophy 5 [RCV005039111]	uncertain significance	4	39244506	39244506	Human	1	name
597743676	CV3721479	single nucleotide variant	NM_025132.4(WDR19):c.2653G>A (p.Val885Ile)	Asphyxiating thoracic dystrophy 5 [RCV005039112]	uncertain significance	4	39245376	39245376	Human	1	name
597743698	CV3721482	single nucleotide variant	NM_025132.4(WDR19):c.2746G>A (p.Val916Ile)	Asphyxiating thoracic dystrophy 5 [RCV005039115]	uncertain significance	4	39253162	39253162	Human	1	name
597743712	CV3721484	single nucleotide variant	NM_025132.4(WDR19):c.2845C>T (p.Gln949Ter)	Asphyxiating thoracic dystrophy 5 [RCV005039117]	likely pathogenic	4	39253261	39253261	Human	1	name
597743720	CV3721485	single nucleotide variant	NM_025132.4(WDR19):c.2858G>C (p.Gly953Ala)	Asphyxiating thoracic dystrophy 5 [RCV005039118]	uncertain significance	4	39253274	39253274	Human	1	name
597743725	CV3721486	single nucleotide variant	NM_025132.4(WDR19):c.2873C>T (p.Ala958Val)	Asphyxiating thoracic dystrophy 5 [RCV005039119]	uncertain significance	4	39253289	39253289	Human	1	name
597743739	CV3721488	single nucleotide variant	NM_025132.4(WDR19):c.2944G>A (p.Glu982Lys)	Asphyxiating thoracic dystrophy 5 [RCV005039121]	uncertain significance	4	39253973	39253973	Human	1	name
597743761	CV3721491	deletion	NM_025132.4(WDR19):c.3084del (p.Lys1028fs)	Asphyxiating thoracic dystrophy 5 [RCV005039124]	likely pathogenic	4	39255927	39255927	Human	1	name
597743819	CV3721500	deletion	NM_025132.4(WDR19):c.3723del (p.Asp1242fs)	Asphyxiating thoracic dystrophy 5 [RCV005039133]	likely pathogenic	4	39277024	39277024	Human	1	name
597743838	CV3721502	duplication	NM_025132.4(WDR19):c.3798dup (p.Cys1267fs)	Asphyxiating thoracic dystrophy 5 [RCV005039136]	likely pathogenic	4	39277100	39277101	Human	1	name
597834771	CV3864334	single nucleotide variant	NM_025132.4(WDR19):c.2464A>T (p.Ile822Leu)	Asphyxiating thoracic dystrophy 5 [RCV005209970]	uncertain significance	4	39244290	39244290	Human	1	name
597891308	CV3871718	single nucleotide variant	NM_025132.4(WDR19):c.2506A>C (p.Lys836Gln)	Asphyxiating thoracic dystrophy 5 [RCV005218887]	uncertain significance	4	39244332	39244332	Human	1	name
597903531	CV3873223	duplication	NM_025132.4(WDR19):c.3519dup (p.Arg1174fs)	Asphyxiating thoracic dystrophy 5 [RCV005220661]	pathogenic	4	39273014	39273015	Human	1	name
597836258	CV3874382	single nucleotide variant	NM_025132.4(WDR19):c.2168C>T (p.Ala723Val)	Asphyxiating thoracic dystrophy 5 [RCV005210302]	uncertain significance	4	39232187	39232187	Human	1	name
597862942	CV3875299	single nucleotide variant	NM_025132.4(WDR19):c.1429C>T (p.Arg477Cys)	Asphyxiating thoracic dystrophy 5 [RCV005214476]	uncertain significance	4	39218055	39218055	Human	1	name
597858134	CV3877906	single nucleotide variant	NM_025132.4(WDR19):c.1226G>C (p.Trp409Ser)	Asphyxiating thoracic dystrophy 5 [RCV005229216]	uncertain significance	4	39216187	39216187	Human	1	name
597841850	CV3878156	single nucleotide variant	NM_025132.4(WDR19):c.1852C>A (p.Leu618Met)	Asphyxiating thoracic dystrophy 5 [RCV005226643]	uncertain significance	4	39228560	39228560	Human	1	name
597912988	CV3879762	single nucleotide variant	NM_025132.4(WDR19):c.1054A>G (p.Ile352Val)	Asphyxiating thoracic dystrophy 5 [RCV005222163]	uncertain significance	4	39215933	39215933	Human	1	name
8568523	CV39660	single nucleotide variant	NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)	Asphyxiating thoracic dystrophy 5 [RCV000987440]\|Asphyxiating thoracic dystrophy 5 [RCV001047050]\|Connective tissue disorder [RCV002276570]\|Cranioectodermal dysplasia 4 [RCV000023681]\|Renal dysplasia and retinal aplasia [RCV003324499]\|Senior-Loken syndrome 8 [RCV000169775]\|WDR19 ... (more) 00;'>WDR19-related disorder [RCV004532400]\|not provided [RCV001356848]	pathogenic\|likely pathogenic\|not provided	4	39231943	39231943	Human	5	name , alternate_id
8568526	CV39663	single nucleotide variant	NM_025132.4(WDR19):c.1034T>G (p.Val345Gly)	Nephronophthisis 13 [RCV000023684]	pathogenic	4	39215913	39215913	Human	1	name
21069223	CV679660	single nucleotide variant	NM_025132.4(WDR19):c.2720C>T (p.Ala907Val)	Asphyxiating thoracic dystrophy 5 [RCV001205192]\|Asphyxiating thoracic dystrophy 5 [RCV002478948]\|Craniosynostosis syndrome [RCV000985264]\|not provided [RCV004693416]	uncertain significance	4	39245443	39245443	Human	3	name
15168130	CV698515	single nucleotide variant	NM_025132.4(WDR19):c.2702A>G (p.Tyr901Cys)	Asphyxiating thoracic dystrophy 5 [RCV000949194]\|Connective tissue disorder [RCV002279655]\|WDR19-related disorder [RCV004543559]\|not provided [RCV003106084]	likely benign\|uncertain significance	4	39245425	39245425	Human	3	name , alternate_id
15176164	CV720966	single nucleotide variant	NM_025132.4(WDR19):c.1366G>A (p.Glu456Lys)	Asphyxiating thoracic dystrophy 5 [RCV001460840]\|Asphyxiating thoracic dystrophy 5 [RCV005036248]\|WDR19-related disorder [RCV004735860]	likely benign\|uncertain significance	4	39217992	39217992	Human	5	name , alternate_id
21071316	CV790472	single nucleotide variant	NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro)	Asphyxiating thoracic dystrophy 5 [RCV000987441]\|Asphyxiating thoracic dystrophy 5 [RCV002304221]	likely pathogenic\|uncertain significance	4	39253202	39253202	Human	1	name
21068841	CV795582	single nucleotide variant	NM_025132.4(WDR19):c.2329A>G (p.Ile777Val)	Asphyxiating thoracic dystrophy 5 [RCV001052712]\|Asphyxiating thoracic dystrophy 5 [RCV001150605]\|Asphyxiating thoracic dystrophy 5 [RCV005036268]\|Cranioectodermal dysplasia 4 [RCV001144506]\|Inborn genetic diseases [RCV002549998]\|not provided [RCV000998234]	uncertain significance	4	39234841	39234841	Human	3	name
26922045	CV829126	single nucleotide variant	NM_025132.4(WDR19):c.1487T>C (p.Val496Ala)	Asphyxiating thoracic dystrophy 5 [RCV001061539]	uncertain significance	4	39224891	39224891	Human	1	name
26907464	CV829127	single nucleotide variant	NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln)	Asphyxiating thoracic dystrophy 5 [RCV001052235]\|Asphyxiating thoracic dystrophy 5 [RCV002497408]	uncertain significance	4	39224939	39224939	Human	1	name
26916013	CV829128	single nucleotide variant	NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu)	Asphyxiating thoracic dystrophy 5 [RCV001056087]\|Asphyxiating thoracic dystrophy 5 [RCV002479341]	uncertain significance	4	39228314	39228314	Human	1	name
26907508	CV829129	single nucleotide variant	NM_025132.4(WDR19):c.1796C>T (p.Ala599Val)	Asphyxiating thoracic dystrophy 5 [RCV001037994]\|Asphyxiating thoracic dystrophy 5 [RCV002489549]\|Inborn genetic diseases [RCV002551402]	uncertain significance	4	39228504	39228504	Human	2	name
26889612	CV829130	single nucleotide variant	NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)	Asphyxiating thoracic dystrophy 5 [RCV001067543]\|Asphyxiating thoracic dystrophy 5 [RCV002482113]\|Connective tissue disorder [RCV002276610]	uncertain significance	4	39232178	39232178	Human	2	name
26914053	CV829131	single nucleotide variant	NM_025132.4(WDR19):c.2292A>T (p.Gln764His)	Asphyxiating thoracic dystrophy 5 [RCV001054696]	uncertain significance	4	39234804	39234804	Human	1	name
26918336	CV829132	single nucleotide variant	NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu)	Asphyxiating thoracic dystrophy 5 [RCV001057787]	uncertain significance	4	39234824	39234824	Human	1	name
26887466	CV829133	single nucleotide variant	NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg)	Asphyxiating thoracic dystrophy 5 [RCV001044870]	uncertain significance	4	39234836	39234836	Human	1	name
26920893	CV829134	single nucleotide variant	NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)	Asphyxiating thoracic dystrophy 5 [RCV001060443]\|Asphyxiating thoracic dystrophy 5 [RCV005036360]\|Inborn genetic diseases [RCV004678937]	likely benign\|uncertain significance	4	39234874	39234874	Human	2	name
26895914	CV829135	single nucleotide variant	NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr)	Asphyxiating thoracic dystrophy 5 [RCV001048033]\|Asphyxiating thoracic dystrophy 5 [RCV002505588]	uncertain significance	4	39245433	39245433	Human	1	name
26886978	CV829136	single nucleotide variant	NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly)	Asphyxiating thoracic dystrophy 5 [RCV001044573]\|Inborn genetic diseases [RCV005298679]	uncertain significance	4	39253974	39253974	Human	2	name
26921202	CV829137	single nucleotide variant	NM_025132.4(WDR19):c.2977A>G (p.Met993Val)	Asphyxiating thoracic dystrophy 5 [RCV001060770]	uncertain significance	4	39254006	39254006	Human	1	name
26910684	CV856336	single nucleotide variant	NM_025132.4(WDR19):c.1778G>T (p.Gly593Val)	Retinal dystrophy [RCV001075308]	uncertain significance	4	39228486	39228486	Human	2	name
28872440	CV890638	single nucleotide variant	NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)	Asphyxiating thoracic dystrophy 5 [RCV001144401]\|Asphyxiating thoracic dystrophy 5 [RCV001351830]\|Asphyxiating thoracic dystrophy 5 [RCV002482277]\|Cranioectodermal dysplasia 4 [RCV001146289]	uncertain significance	4	39228219	39228219	Human	2	name
28872447	CV890639	single nucleotide variant	NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)	Asphyxiating thoracic dystrophy 5 [RCV001146293]\|Asphyxiating thoracic dystrophy 5 [RCV001858962]\|Asphyxiating thoracic dystrophy 5 [RCV002497565]\|Cranioectodermal dysplasia 4 [RCV001146292]	uncertain significance	4	39228355	39228355	Human	2	name
28879744	CV890640	single nucleotide variant	NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr)	Asphyxiating thoracic dystrophy 5 [RCV001149088]\|Cranioectodermal dysplasia 4 [RCV001149089]\|Inborn genetic diseases [RCV004032772]	likely benign\|uncertain significance	4	39228668	39228668	Human	3	name
28879749	CV890641	single nucleotide variant	NM_025132.4(WDR19):c.2087G>A (p.Arg696His)	Asphyxiating thoracic dystrophy 5 [RCV001149091]\|Asphyxiating thoracic dystrophy 5 [RCV002483878]\|Asphyxiating thoracic dystrophy 5 [RCV002559433]\|Cranioectodermal dysplasia 4 [RCV001149090]\|Inborn genetic diseases [RCV003163332]	uncertain significance	4	39231901	39231901	Human	3	name
28884599	CV890642	single nucleotide variant	NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys)	Asphyxiating thoracic dystrophy 5 [RCV001150604]\|Cranioectodermal dysplasia 4 [RCV001150603]	uncertain significance	4	39232270	39232270	Human	2	name
28904515	CV890643	single nucleotide variant	NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)	Asphyxiating thoracic dystrophy 5 [RCV001144507]\|Asphyxiating thoracic dystrophy 5 [RCV001437182]\|Cranioectodermal dysplasia 4 [RCV001144508]\|WDR19-related disorder [RCV004538367]\|not provided [RCV003142079]	likely benign\|uncertain significance	4	39240299	39240299	Human	3	name , alternate_id
28872760	CV890644	single nucleotide variant	NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu)	Asphyxiating thoracic dystrophy 5 [RCV001146434]\|Cranioectodermal dysplasia 4 [RCV001146433]	uncertain significance	4	39244256	39244256	Human	2	name
28880144	CV890645	single nucleotide variant	NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro)	Asphyxiating thoracic dystrophy 5 [RCV001149213]\|Cranioectodermal dysplasia 4 [RCV001149214]	uncertain significance	4	39253288	39253288	Human	2	name
34891679	CV906240	single nucleotide variant	NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)	Nephronophthisis 13 [RCV001175235]	likely pathogenic	4	39224963	39224963	Human	1	name
38484485	CV923506	single nucleotide variant	NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg)	Asphyxiating thoracic dystrophy 5 [RCV001219453]	uncertain significance	4	39245392	39245392	Human	1	name
38459076	CV932319	single nucleotide variant	NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro)	Asphyxiating thoracic dystrophy 5 [RCV001211562]	uncertain significance	4	39217212	39217212	Human	1	name
38471976	CV932320	single nucleotide variant	NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn)	Asphyxiating thoracic dystrophy 5 [RCV001202989]	uncertain significance	4	39232213	39232213	Human	1	name
38477523	CV932321	single nucleotide variant	NM_025132.4(WDR19):c.2213A>T (p.Asp738Val)	Asphyxiating thoracic dystrophy 5 [RCV001205121]\|not provided [RCV003737027]	uncertain significance	4	39232232	39232232	Human	1	name
38489873	CV932322	single nucleotide variant	NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser)	Asphyxiating thoracic dystrophy 5 [RCV001210400]\|Asphyxiating thoracic dystrophy 5 [RCV005036466]	uncertain significance	4	39253244	39253244	Human	1	name
38467263	CV932323	single nucleotide variant	NM_025132.4(WDR19):c.2894G>T (p.Gly965Val)	Asphyxiating thoracic dystrophy 5 [RCV001201991]	uncertain significance	4	39253923	39253923	Human	1	name
38496014	CV943983	single nucleotide variant	NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)	Asphyxiating thoracic dystrophy 5 [RCV001226106]\|Asphyxiating thoracic dystrophy 5 [RCV002497769]\|Inborn genetic diseases [RCV002562608]\|not provided [RCV004762004]	uncertain significance	4	39215997	39215997	Human	2	name
38487858	CV943984	single nucleotide variant	NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser)	Asphyxiating thoracic dystrophy 5 [RCV001237785]\|Asphyxiating thoracic dystrophy 5 [RCV002504333]	uncertain significance	4	39216133	39216133	Human	1	name
38477290	CV943986	single nucleotide variant	NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile)	Asphyxiating thoracic dystrophy 5 [RCV001233422]	uncertain significance	4	39228328	39228328	Human	1	name
38497426	CV943987	single nucleotide variant	NM_025132.4(WDR19):c.1810G>C (p.Val604Leu)	Asphyxiating thoracic dystrophy 5 [RCV001227060]	uncertain significance	4	39228518	39228518	Human	1	name
38485322	CV943988	single nucleotide variant	NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu)	Asphyxiating thoracic dystrophy 5 [RCV001236709]\|Asphyxiating thoracic dystrophy 5 [RCV005036514]\|Inborn genetic diseases [RCV002563871]	uncertain significance	4	39234832	39234832	Human	2	name
38481329	CV943989	single nucleotide variant	NM_025132.4(WDR19):c.2492T>C (p.Val831Ala)	Asphyxiating thoracic dystrophy 5 [RCV001235073]\|Inborn genetic diseases [RCV002563821]	uncertain significance	4	39244318	39244318	Human	2	name
38498746	CV953770	single nucleotide variant	NM_025132.4(WDR19):c.1114G>A (p.Val372Ile)	Asphyxiating thoracic dystrophy 5 [RCV001244011]\|Retinal dystrophy [RCV004813997]	uncertain significance	4	39215993	39215993	Human	3	name
38495407	CV953771	single nucleotide variant	NM_025132.4(WDR19):c.1127T>C (p.Val376Ala)	Asphyxiating thoracic dystrophy 5 [RCV001241922]\|Asphyxiating thoracic dystrophy 5 [RCV002480808]	uncertain significance	4	39216006	39216006	Human	1	name
41407694	CV962700	single nucleotide variant	NM_025132.4(WDR19):c.1442A>G (p.His481Arg)	Asphyxiating thoracic dystrophy 5 [RCV002251760]\|Nephronophthisis 13 [RCV001281113]\|Saldino-Mainzer syndrome [RCV001290087]	pathogenic\|likely pathogenic	4	39218068	39218068	Human	3	name
41407816	CV962701	single nucleotide variant	NM_025132.4(WDR19):c.2333C>G (p.Ser778Ter)	Nephronophthisis 13 [RCV001281115]	pathogenic	4	39234845	39234845	Human	1	name
41407695	CV962702	single nucleotide variant	NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)	Asphyxiating thoracic dystrophy 5 [RCV002251761]\|Saldino-Mainzer syndrome [RCV001290088]\|Senior-Loken syndrome 8 [RCV001281116]	pathogenic\|likely pathogenic	4	39253157	39253157	Human	3	name
40886699	CV973430	single nucleotide variant	NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro)	Asphyxiating thoracic dystrophy 5 [RCV001880104]\|Inborn genetic diseases [RCV001265914]	likely pathogenic\|uncertain significance	4	39253920	39253920	Human	2	name
41405641	CV981463	single nucleotide variant	NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)	Asphyxiating thoracic dystrophy 5 [RCV001373812]\|Asphyxiating thoracic dystrophy 5 [RCV002504415]\|not provided [RCV001813107]	uncertain significance	4	39231907	39231907	Human	1	name
126918420	CV1042768	single nucleotide variant	NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr)	Asphyxiating thoracic dystrophy 5 [RCV001361709]\|WDR19-related disorder [RCV004734144]	uncertain significance	4	39257531	39257531	Human	2	alternate_id
127246629	CV1060026	insertion	NM_025132.4(WDR19):c.1122_1123insT (p.Pro375fs)	Asphyxiating thoracic dystrophy 5 [RCV001384582]\|Asphyxiating thoracic dystrophy 5 [RCV005038190]\|WDR19-related disorder [RCV004734164]\|not provided [RCV003325573]	pathogenic\|likely pathogenic	4	39216001	39216002	Human	5	alternate_id
8657812	CV132656	single nucleotide variant	NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln)	Asphyxiating thoracic dystrophy 5 [RCV000653250]\|Asphyxiating thoracic dystrophy 5 [RCV005031600]\|Asphyxiating thoracic dystrophy 5 [RCV005359057]\|Cranioectodermal dysplasia 4 [RCV003224150]\|Cranioectodermal dysplasia [RCV000754960]\|Leber congenital amaurosis [RCV001262101]\|Nephronophthisis 13 [RCV0 ... (more) 00850617]\|Nephronophthisis 13 [RCV003224149]\|Senior-Loken syndrome 8 [RCV000115014]\|WDR19-related disorder [RCV005250018]\|not provided [RCV000433622]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	4	39273029	39273029	Human	7	alternate_id
11643299	CV270911	single nucleotide variant	NM_025132.4(WDR19):c.2671C>T (p.His891Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001089411]\|Inborn genetic diseases [RCV002519250]\|WDR19-related disorder [RCV004734931]\|not provided [RCV000756917]\|not specified [RCV000391331]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39245394	39245394	Human	3	alternate_id
11636778	CV270914	single nucleotide variant	NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser)	Asphyxiating thoracic dystrophy 5 [RCV001088018]\|Inborn genetic diseases [RCV002519251]\|WDR19-related disorder [RCV004734932]\|not provided [RCV000274698]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39240278	39240278	Human	3	alternate_id
11585870	CV294789	single nucleotide variant	NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)	Asphyxiating thoracic dystrophy 5 [RCV000320324]\|Asphyxiating thoracic dystrophy 5 [RCV000653252]\|Cranioectodermal dysplasia 4 [RCV000284017]\|Nephronophthisis 13 [RCV002244827]\|Senior-Loken syndrome 8 [RCV002244828]\|WDR19-related disorder [RCV004544651]	benign\|likely benign\|uncertain significance	4	39224999	39224999	Human	4	alternate_id
11593101	CV298413	single nucleotide variant	NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)	Asphyxiating thoracic dystrophy 5 [RCV000345648]\|Asphyxiating thoracic dystrophy 5 [RCV002057928]\|Bardet-Biedl syndrome [RCV001328232]\|Cranioectodermal dysplasia 4 [RCV000379247]\|Nephronophthisis 13 [RCV002244835]\|Senior-Loken syndrome 8 [RCV002244836]\|WDR19-rel ... (more) ated disorder [RCV004544652]\|not provided [RCV003221952]	benign\|likely benign\|uncertain significance	4	39277025	39277025	Human	5	alternate_id
11586545	CV298432	single nucleotide variant	NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)	Asphyxiating thoracic dystrophy 5 [RCV000385239]\|Asphyxiating thoracic dystrophy 5 [RCV001083150]\|Asphyxiating thoracic dystrophy 5 [RCV005398477]\|Cranioectodermal dysplasia 4 [RCV000288576]\|WDR19-related disorder [RCV004530412]\|not provided [RCV000488404]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39274909	39274909	Human	5	alternate_id
12833094	CV367629	single nucleotide variant	NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr)	Asphyxiating thoracic dystrophy 5 [RCV001861610]\|Asphyxiating thoracic dystrophy 5 [RCV002481324]\|Inborn genetic diseases [RCV002526357]\|WDR19-related disorder [RCV004735520]\|not provided [RCV000417853]	uncertain significance	4	39253288	39253288	Human	6	alternate_id
12902224	CV406435	single nucleotide variant	NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)	Asphyxiating thoracic dystrophy 5 [RCV001078579]\|Asphyxiating thoracic dystrophy 5 [RCV001146437]\|Cranioectodermal dysplasia 4 [RCV001146438]\|WDR19-related disorder [RCV004535530]\|not provided [RCV000486591]\|not specified [RCV001821402]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39244515	39244515	Human	3	alternate_id
13213509	CV428297	single nucleotide variant	NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)	Asphyxiating thoracic dystrophy 5 [RCV000951959]\|Asphyxiating thoracic dystrophy 5 [RCV001149216]\|Asphyxiating thoracic dystrophy 5 [RCV005398722]\|Connective tissue disorder [RCV002279282]\|Cranioectodermal dysplasia 4 [RCV001149215]\|WDR19-related disorder [RCV00 ... (more) 4541573]\|not provided [RCV001532019]\|not specified [RCV000500098]	likely benign\|uncertain significance	4	39255854	39255854	Human	6	alternate_id
15153195	CV698516	single nucleotide variant	NM_025132.4(WDR19):c.3268A>C (p.Lys1090Gln)	Asphyxiating thoracic dystrophy 5 [RCV000946033]\|WDR19-related disorder [RCV004735906]\|not provided [RCV004711441]	likely benign	4	39268001	39268001	Human	2	alternate_id
26923884	CV829142	single nucleotide variant	NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala)	Asphyxiating thoracic dystrophy 5 [RCV001064835]\|Asphyxiating thoracic dystrophy 5 [RCV002479381]\|Inborn genetic diseases [RCV002555835]\|WDR19-related disorder [RCV004735956]\|not provided [RCV001700692]	uncertain significance	4	39277126	39277126	Human	6	alternate_id
28885305	CV890649	single nucleotide variant	NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)	Asphyxiating thoracic dystrophy 5 [RCV001150825]\|Asphyxiating thoracic dystrophy 5 [RCV001202819]\|Asphyxiating thoracic dystrophy 5 [RCV002497570]\|Connective tissue disorder [RCV002276645]\|Cranioectodermal dysplasia 4 [RCV001150824]\|Inborn genetic diseases [RCV003163337]\|WDR19 ... (more) ;'>WDR19-related disorder [RCV004538377]	uncertain significance	4	39274925	39274925	Human	7	alternate_id
126745864	CV990126	single nucleotide variant	NM_025132.4(WDR19):c.3521G>A (p.Arg1174His)	Asphyxiating thoracic dystrophy 5 [RCV001306032]\|Asphyxiating thoracic dystrophy 5 [RCV005394921]\|Inborn genetic diseases [RCV002543150]\|WDR19-related disorder [RCV004734108]	uncertain significance	4	39273017	39273017	Human	6	alternate_id
127317253	CV1135725	indel	NM_025132.4(WDR19):c.1983-8_1983-7delinsAT	Asphyxiating thoracic dystrophy 5 [RCV001483107]	likely benign	4	39231789	39231790	Human		name
151752435	CV1379742	single nucleotide variant	NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys)	Asphyxiating thoracic dystrophy 5 [RCV001948279]\|Asphyxiating thoracic dystrophy 5 [RCV002491959]	uncertain significance	4	39228549	39228549	Human	1	name
151763649	CV1384436	single nucleotide variant	NM_025132.4(WDR19):c.2030C>T (p.Ala677Val)	Asphyxiating thoracic dystrophy 5 [RCV001987559]	uncertain significance	4	39231844	39231844	Human	1	name
151731045	CV1457864	single nucleotide variant	NM_025132.4(WDR19):c.1486G>A (p.Val496Ile)	Asphyxiating thoracic dystrophy 5 [RCV001967114]\|Asphyxiating thoracic dystrophy 5 [RCV002491965]\|Inborn genetic diseases [RCV002560616]	uncertain significance	4	39224890	39224890	Human	2	name

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