Asph Variant Search Result - Rat Genome Database

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1001 records found for search term Asph

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150407854	CV1182403	single nucleotide variant	NM_004318.4(ASPH):c.-32G>A	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554180]\|not provided [RCV001638165]	benign	8	61714403	61714403	Human	1	name
150407858	CV1182404	single nucleotide variant	NM_004318.4(ASPH):c.-74T>C	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554181]\|not provided [RCV001676060]	benign	8	61714445	61714445	Human	1	name
150502737	CV1223293	single nucleotide variant	NM_004318.4(ASPH):c.-177G>C	not provided [RCV001621227]	benign	8	61714548	61714548	Human		name
150409594	CV1196032	deletion	NM_004318.4(ASPH):c.620-5del	not provided [RCV001572725]\|not specified [RCV001701199]	benign\|likely benign	8	61644637	61644637	Human		name
151350354	CV1324685	single nucleotide variant	NM_004318.4(ASPH):c.416-2A>G	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001809130]	uncertain significance	8	61651126	61651126	Human	1	name
156010633	CV2051397	single nucleotide variant	NM_004318.4(ASPH):c.652+6A>T	not provided [RCV002820103]	uncertain significance	8	61644594	61644594	Human		name
156241617	CV2101475	duplication	NM_004318.4(ASPH):c.620-5dup	not provided [RCV002894931]	benign	8	61644636	61644637	Human		name
401909229	CV2821113	single nucleotide variant	NM_004318.4(ASPH):c.709+4T>A	not provided [RCV003423933]	uncertain significance	8	61643941	61643941	Human		name
408385072	CV3505453	single nucleotide variant	NM_004318.4(ASPH):c.977-8T>C	ASPH-related disorder [RCV004732316]	likely benign	8	61584037	61584037	Human		name , trait , alternate_id
150330847	CV1169286	single nucleotide variant	NM_004318.4(ASPH):c.935-92A>G	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554178]\|not provided [RCV001536169]	benign	8	61619111	61619111	Human	1	name
150338574	CV1174295	deletion	NM_004318.4(ASPH):c.2127-2del	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001542581]	pathogenic\|likely pathogenic	8	61503511	61503511	Human	1	name
150407752	CV1182395	single nucleotide variant	NM_004318.4(ASPH):c.2127-6C>T	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554122]\|not provided [RCV001595109]	benign	8	61503515	61503515	Human	1	name
150407754	CV1182396	single nucleotide variant	NM_004318.4(ASPH):c.1900+6T>C	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554123]\|not provided [RCV001676059]	benign	8	61525971	61525971	Human	1	name
150407851	CV1182402	single nucleotide variant	NM_004318.4(ASPH):c.416-81T>C	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554179]\|not provided [RCV001725231]	benign	8	61651205	61651205	Human	1	name
150412363	CV1196030	duplication	NM_004318.4(ASPH):c.791-15dup	not provided [RCV001574055]\|not specified [RCV001700791]	benign\|likely benign	8	61638365	61638366	Human		name
150411925	CV1196031	duplication	NM_004318.4(ASPH):c.758-13dup	not provided [RCV001573890]\|not specified [RCV001727899]	benign\|likely benign	8	61642923	61642924	Human		name
150448935	CV1215044	deletion	NM_004318.4(ASPH):c.790+42del	not provided [RCV001611633]	benign	8	61642846	61642846	Human		name
150461006	CV1234722	single nucleotide variant	NM_004318.4(ASPH):c.791-14T>G	not provided [RCV001649304]	benign	8	61638377	61638377	Human		name
150484267	CV1247101	single nucleotide variant	NM_004318.4(ASPH):c.653-30G>A	not provided [RCV001673597]	benign	8	61644031	61644031	Human		name
150461427	CV1253240	single nucleotide variant	NM_004318.4(ASPH):c.416-35C>A	not provided [RCV001669569]	benign	8	61651159	61651159	Human		name
150437154	CV1262259	duplication	NM_004318.4(ASPH):c.790+32dup	not provided [RCV001678617]	benign	8	61642845	61642846	Human		name
150439558	CV1287057	single nucleotide variant	NM_004318.4(ASPH):c.254-69A>C	not provided [RCV001724972]	benign	8	61681105	61681105	Human		name
156179839	CV1953390	single nucleotide variant	NM_004318.4(ASPH):c.790+15T>G	not provided [RCV002574079]	likely benign	8	61642873	61642873	Human		name
405054461	CV3022286	single nucleotide variant	NM_004318.4(ASPH):c.1149+1G>A	not provided [RCV003697148]	likely pathogenic	8	61576771	61576771	Human		name
405170681	CV3122503	single nucleotide variant	NM_004318.4(ASPH):c.889+15T>C	not provided [RCV003819092]	likely benign	8	61637932	61637932	Human		name
405206189	CV3126655	single nucleotide variant	NM_004318.4(ASPH):c.652+16A>C	not provided [RCV003822589]	likely benign	8	61644584	61644584	Human		name
404992212	CV3132288	single nucleotide variant	NM_004318.4(ASPH):c.790+17T>C	not provided [RCV003827226]	likely benign	8	61642871	61642871	Human		name
405106340	CV3136105	single nucleotide variant	NM_004318.4(ASPH):c.1062+8G>A	not provided [RCV003835451]	likely benign	8	61583936	61583936	Human		name
407509549	CV3496480	single nucleotide variant	NM_004318.4(ASPH):c.1062+3A>T	not provided [RCV004698321]	uncertain significance	8	61583941	61583941	Human		name
597894107	CV3743846	single nucleotide variant	NM_004318.4(ASPH):c.103+19C>A	not provided [RCV005071316]	likely benign	8	61714250	61714250	Human		name
597860544	CV3748687	single nucleotide variant	NM_004318.4(ASPH):c.619+12T>C	not provided [RCV005067319]	likely benign	8	61646738	61646738	Human		name
150335736	CV1164986	single nucleotide variant	NM_004318.4(ASPH):c.1062+88G>A	not provided [RCV001530534]	benign	8	61583856	61583856	Human		name
150407758	CV1182397	single nucleotide variant	NM_004318.4(ASPH):c.1626+10A>G	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554124]\|not provided [RCV001615315]	benign	8	61553021	61553021	Human	1	name
150407762	CV1182398	single nucleotide variant	NM_004318.4(ASPH):c.1437+27G>A	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554125]\|not provided [RCV001615316]	benign	8	61562717	61562717	Human	1	name
150407765	CV1182399	single nucleotide variant	NM_004318.4(ASPH):c.1301-79C>G	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554126]\|not provided [RCV001619979]	benign	8	61562959	61562959	Human	1	name
150407848	CV1182400	single nucleotide variant	NM_004318.4(ASPH):c.1150-57G>A	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554176]\|not provided [RCV001597313]	benign	8	61567375	61567375	Human	1	name
150475874	CV1216729	single nucleotide variant	NM_004318.4(ASPH):c.710-211C>G	not provided [RCV001616022]	benign	8	61643644	61643644	Human		name
150476450	CV1218478	single nucleotide variant	NM_004318.4(ASPH):c.976+226A>T	not provided [RCV001616105]	benign	8	61618752	61618752	Human		name
150454272	CV1219951	single nucleotide variant	NM_004318.4(ASPH):c.935-319C>T	not provided [RCV001612333]	benign	8	61619338	61619338	Human		name
150501695	CV1224256	single nucleotide variant	NM_004318.4(ASPH):c.757+211A>G	not provided [RCV001620897]	benign	8	61643175	61643175	Human		name
150513658	CV1229093	single nucleotide variant	NM_004318.4(ASPH):c.935-120A>G	not provided [RCV001637935]	benign	8	61619139	61619139	Human		name
150489771	CV1250916	single nucleotide variant	NM_004318.4(ASPH):c.103+245G>T	not provided [RCV001674583]	benign	8	61714024	61714024	Human		name
150490259	CV1250993	single nucleotide variant	NM_004318.4(ASPH):c.415+230C>T	not provided [RCV001674660]	benign	8	61653338	61653338	Human		name
150437792	CV1262364	single nucleotide variant	NM_004318.4(ASPH):c.1150-48A>T	not provided [RCV001678723]	benign	8	61567366	61567366	Human		name
150463346	CV1263792	single nucleotide variant	NM_004318.4(ASPH):c.103+219C>G	not provided [RCV001682493]	benign	8	61714050	61714050	Human		name
150499879	CV1283061	single nucleotide variant	NM_004318.4(ASPH):c.254-218C>A	not provided [RCV001718278]	benign	8	61681254	61681254	Human		name
150500332	CV1283476	single nucleotide variant	NM_004318.4(ASPH):c.619+176G>A	not provided [RCV001718371]	benign	8	61646574	61646574	Human		name
150444364	CV1288010	duplication	NM_004318.4(ASPH):c.1062+68dup	not provided [RCV001725732]	benign	8	61583862	61583863	Human		name
155267432	CV1696656	deletion	NM_004318.4(ASPH):c.1062+81del	not provided [RCV002281514]	likely benign	8	61583863	61583863	Human		name
156088583	CV1989661	duplication	NM_004318.4(ASPH):c.1301-19dup	not provided [RCV002639137]	benign	8	61562898	61562899	Human		name
155919579	CV2032063	single nucleotide variant	NM_004318.4(ASPH):c.1438-14T>G	not provided [RCV002727315]	likely benign	8	61556036	61556036	Human		name
156210723	CV2036863	deletion	NM_004318.4(ASPH):c.1627-20del	not provided [RCV002790231]	benign	8	61548228	61548228	Human		name
402490945	CV2980948	single nucleotide variant	NM_004318.4(ASPH):c.1765-18C>T	not provided [RCV003713767]	likely benign	8	61526130	61526130	Human		name
150335484	CV1171862	single nucleotide variant	NM_004318.4(ASPH):c.934+7298A>T	not provided [RCV001540586]	benign	8	61626385	61626385	Human		name
150470420	CV1209316	duplication	NM_004318.4(ASPH):c.934+7288dup	not provided [RCV001588427]	likely benign	8	61626383	61626384	Human		name
150514041	CV1210829	single nucleotide variant	NM_004318.4(ASPH):c.1149+117A>T	not provided [RCV001598870]	benign	8	61576655	61576655	Human		name
150504736	CV1211453	single nucleotide variant	NM_004318.4(ASPH):c.2127-105C>T	not provided [RCV001595618]	benign	8	61503614	61503614	Human		name
150495659	CV1225130	single nucleotide variant	NM_004318.4(ASPH):c.1537-116A>G	not provided [RCV001619608]	benign	8	61553236	61553236	Human		name
150459219	CV1236065	single nucleotide variant	NM_004318.4(ASPH):c.1627-119T>C	not provided [RCV001649036]	benign	8	61548327	61548327	Human		name
150432483	CV1236777	single nucleotide variant	NM_004318.4(ASPH):c.1437+206A>T	not provided [RCV001642182]	benign	8	61562538	61562538	Human		name
150478798	CV1240562	single nucleotide variant	NM_004318.4(ASPH):c.254-1473G>A	not provided [RCV001652437]	benign	8	61682509	61682509	Human		name
150452289	CV1254943	single nucleotide variant	NM_004318.4(ASPH):c.1627-101G>A	not provided [RCV001668002]	benign	8	61548309	61548309	Human		name
150472909	CV1259377	single nucleotide variant	NM_004318.4(ASPH):c.1437+143T>C	not provided [RCV001684623]	benign	8	61562601	61562601	Human		name
150453138	CV1260478	single nucleotide variant	NM_004318.4(ASPH):c.1150-193C>T	not provided [RCV001680969]	benign	8	61567511	61567511	Human		name
150451252	CV1261521	single nucleotide variant	NM_004318.4(ASPH):c.1537-135C>A	not provided [RCV001680723]	benign	8	61553255	61553255	Human		name
150466089	CV1277346	single nucleotide variant	NM_004318.4(ASPH):c.1536+285G>A	not provided [RCV001710641]	benign	8	61555639	61555639	Human		name
150457702	CV1278663	single nucleotide variant	NM_004318.4(ASPH):c.1627-251A>G	not provided [RCV001709279]	benign	8	61548459	61548459	Human		name
150497047	CV1283479	single nucleotide variant	NM_004318.4(ASPH):c.1063-121T>G	not provided [RCV001717787]	benign	8	61576979	61576979	Human		name
150487471	CV1283828	duplication	NM_004318.4(ASPH):c.1301-325dup	not provided [RCV001715957]	benign	8	61563195	61563196	Human		name
150444370	CV1288011	single nucleotide variant	NM_004318.4(ASPH):c.1626+108G>A	not provided [RCV001725733]	benign	8	61552923	61552923	Human		name
150444377	CV1288012	single nucleotide variant	NM_004318.4(ASPH):c.1627-127C>T	not provided [RCV001725734]	benign	8	61548335	61548335	Human		name
126733150	CV1020506	single nucleotide variant	NM_004318.4(ASPH):c.323-11633T>G	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs [RCV001334228]	pathogenic	8	61665293	61665293	Human		name
150489178	CV1250505	single nucleotide variant	NM_004318.4(ASPH):c.323-12252C>T	not provided [RCV001674468]	benign	8	61665912	61665912	Human		name
8650512	CV127087	single nucleotide variant	NM_004318.3(ASPH):c.1626+1286T>G	Lung cancer [RCV000107574]	uncertain significance	8	61551745	61551745	Human		name
8650513	CV127088	single nucleotide variant	NM_004318.3(ASPH):c.977-17359T>C	Lung cancer [RCV000107575]	uncertain significance	8	61601388	61601388	Human		name
150488832	CV1274368	single nucleotide variant	NM_004318.4(ASPH):c.323-11612T>C	not provided [RCV001726634]\|not specified [RCV001699962]	benign\|likely benign	8	61665272	61665272	Human		name
150489712	CV1274478	single nucleotide variant	NM_004318.4(ASPH):c.322+12708T>A	ASPH-related disorder [RCV003941086]\|not provided [RCV001700531]	likely benign	8	61668260	61668260	Human	1	name , alternate_id
152984384	CV1675382	single nucleotide variant	NM_004318.4(ASPH):c.322+12720A>C	Exercise-induced malignant hyperthermia [RCV002238742]	pathogenic	8	61668248	61668248	Human	2	name
152985508	CV1675383	single nucleotide variant	NM_004318.4(ASPH):c.323-11779G>C	Malignant hyperthermia of anesthesia [RCV002240149]	pathogenic	8	61665439	61665439	Human	2	name
152985509	CV1675384	single nucleotide variant	NM_004318.4(ASPH):c.323-11619A>G	Exercise-induced malignant hyperthermia [RCV002240150]\|not provided [RCV003434457]	pathogenic\|likely benign	8	61665279	61665279	Human	2	name
401872051	CV2749626	single nucleotide variant	NM_004318.4(ASPH):c.322+12725A>G	not provided [RCV003332754]	uncertain significance	8	61668243	61668243	Human		name
598217342	CV3895338	single nucleotide variant	NM_004318.4(ASPH):c.323-11842C>T	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV005360227]	uncertain significance	8	61665502	61665502	Human	1	name
598217348	CV3895339	single nucleotide variant	NM_004318.4(ASPH):c.323-11677C>T	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV005360228]	uncertain significance	8	61665337	61665337	Human	1	name
405286552	CV3192886	duplication	NM_004318.4(ASPH):c.791-5_791-3dup	ASPH-related disorder [RCV003981600]	likely benign	8	61638365	61638366	Human		name , trait , alternate_id
405287711	CV3208047	microsatellite	NM_004318.4(ASPH):c.322+4786GAA[5]	ASPH-related disorder [RCV003924561]	likely benign	8	61676165	61676167	Human		name , trait , alternate_id
405202994	CV3143919	single nucleotide variant	NM_004318.4(ASPH):c.75G>C (p.Ala25=)	not provided [RCV003844709]	likely benign	8	61714297	61714297	Human		name
15165885	CV723163	single nucleotide variant	NM_004318.4(ASPH):c.69G>T (p.Thr23=)	not provided [RCV000882511]\|not specified [RCV001796302]	benign\|likely benign	8	61714303	61714303	Human		name
402481706	CV2860471	duplication	NM_004318.4(ASPH):c.2127-11_2127-8dup	not provided [RCV003544100]	likely benign	8	61503516	61503517	Human		name
597953149	CV3798912	single nucleotide variant	NM_004318.4(ASPH):c.195C>T (p.Gly65=)	not provided [RCV005136486]	likely benign	8	61684097	61684097	Human		name
15189430	CV700624	single nucleotide variant	NM_004318.4(ASPH):c.147C>T (p.Leu49=)	not provided [RCV000954173]	likely benign	8	61684145	61684145	Human		name
150419835	CV1194066	duplication	NM_004318.4(ASPH):c.1062+68_1062+69dup	not provided [RCV001569856]	likely benign	8	61583862	61583863	Human		name
156415139	CV1961756	single nucleotide variant	NM_004318.4(ASPH):c.567G>A (p.Ala189=)	not provided [RCV002588997]	likely benign	8	61646802	61646802	Human		name
156082686	CV2098761	single nucleotide variant	NM_004318.4(ASPH):c.819G>T (p.Gly273=)	not provided [RCV002912755]	benign	8	61638335	61638335	Human		name
405284367	CV3213639	single nucleotide variant	NM_004318.4(ASPH):c.642G>C (p.Val214=)	ASPH-related disorder [RCV003922209]	likely benign	8	61644610	61644610	Human		name , trait , alternate_id
405261852	CV3216391	single nucleotide variant	NM_004318.4(ASPH):c.363A>G (p.Pro121=)	ASPH-related disorder [RCV003944621]	likely benign	8	61653620	61653620	Human		name , trait , alternate_id
405279507	CV3217427	single nucleotide variant	NM_004318.4(ASPH):c.480C>T (p.His160=)	ASPH-related disorder [RCV003976845]	likely benign	8	61651060	61651060	Human		name , trait , alternate_id
407501591	CV3480684	single nucleotide variant	NM_004318.4(ASPH):c.68C>G (p.Thr23Arg)	Inborn genetic diseases [RCV004669798]	uncertain significance	8	61714304	61714304	Human	1	name
597632179	CV3594513	single nucleotide variant	NM_004318.4(ASPH):c.61G>C (p.Gly21Arg)	Inborn genetic diseases [RCV004968697]	uncertain significance	8	61714311	61714311	Human	1	name
598128283	CV3887483	single nucleotide variant	NM_004318.4(ASPH):c.390C>T (p.Pro130=)	not provided [RCV005243656]	likely benign	8	61653593	61653593	Human		name
598206753	CV3906001	single nucleotide variant	NM_004318.4(ASPH):c.35A>G (p.Asn12Ser)	Inborn genetic diseases [RCV005269911]	uncertain significance	8	61714337	61714337	Human	1	name
15184791	CV736728	single nucleotide variant	NM_004318.4(ASPH):c.441A>C (p.Ala147=)	not provided [RCV000908358]	likely benign	8	61651099	61651099	Human		name
15103571	CV751219	single nucleotide variant	NM_004318.4(ASPH):c.783G>A (p.Glu261=)	ASPH-related disorder [RCV003902945]\|not provided [RCV000915188]	likely benign	8	61642895	61642895	Human	1	name , alternate_id
150407849	CV1182401	single nucleotide variant	NM_004318.4(ASPH):c.1146G>A (p.Ala382=)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001554177]\|not provided [RCV001615321]	benign	8	61576775	61576775	Human	1	name
151350352	CV1324684	single nucleotide variant	NM_004318.4(ASPH):c.197T>C (p.Val66Ala)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001809129]	uncertain significance	8	61684095	61684095	Human	1	name
152984383	CV1675381	single nucleotide variant	NM_004318.4(ASPH):c.248T>C (p.Val83Ala)	Inborn genetic diseases [RCV003093930]\|Malignant hyperthermia of anesthesia [RCV002238741]	pathogenic\|uncertain significance	8	61684044	61684044	Human	3	name
153000523	CV1683738	single nucleotide variant	NM_004318.4(ASPH):c.1626G>A (p.Glu542=)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV002254245]	likely pathogenic	8	61553031	61553031	Human	1	name
156228924	CV2027862	single nucleotide variant	NM_004318.4(ASPH):c.1887G>T (p.Thr629=)	not provided [RCV002745231]	likely benign	8	61525990	61525990	Human		name
155923904	CV2099454	single nucleotide variant	NM_004318.4(ASPH):c.2025C>T (p.His675=)	not provided [RCV002903478]	benign	8	61517629	61517629	Human		name
156343593	CV2099822	single nucleotide variant	NM_004318.4(ASPH):c.230T>C (p.Leu77Pro)	not provided [RCV002900619]	uncertain significance	8	61684062	61684062	Human		name
156391952	CV2127252	single nucleotide variant	NM_004318.4(ASPH):c.1590C>T (p.His530=)	not provided [RCV002943992]	likely benign	8	61553067	61553067	Human		name
156202758	CV2150166	single nucleotide variant	NM_004318.4(ASPH):c.140G>A (p.Gly47Asp)	not provided [RCV003006383]	uncertain significance	8	61684152	61684152	Human		name
329401145	CV2446187	single nucleotide variant	NM_004318.4(ASPH):c.200G>C (p.Trp67Ser)	Inborn genetic diseases [RCV003198149]	uncertain significance	8	61684092	61684092	Human	1	name
401739034	CV2708291	single nucleotide variant	NM_004318.4(ASPH):c.148T>C (p.Ser50Pro)	Inborn genetic diseases [RCV003292014]	uncertain significance	8	61684144	61684144	Human	1	name
405241521	CV2901411	single nucleotide variant	NM_004318.4(ASPH):c.2175C>T (p.His725=)	not provided [RCV003557500]	likely benign	8	61503461	61503461	Human		name
402469914	CV2931053	single nucleotide variant	NM_004318.4(ASPH):c.1485C>T (p.Gly495=)	not provided [RCV003570151]	likely benign	8	61555975	61555975	Human		name
405021252	CV2992752	single nucleotide variant	NM_004318.4(ASPH):c.1596G>A (p.Gly532=)	not provided [RCV003694849]	likely benign	8	61553061	61553061	Human		name
405252361	CV3047186	single nucleotide variant	NM_004318.4(ASPH):c.2226G>A (p.Val742=)	not provided [RCV003722184]	likely benign	8	61503410	61503410	Human		name
405094398	CV3134715	single nucleotide variant	NM_004318.4(ASPH):c.2130C>G (p.Thr710=)	not provided [RCV003835061]	likely benign	8	61503506	61503506	Human		name
405271645	CV3202935	single nucleotide variant	NM_004318.4(ASPH):c.1263G>A (p.Leu421=)	ASPH-related disorder [RCV003913994]	likely benign	8	61567205	61567205	Human		name , trait , alternate_id
405677119	CV3283194	single nucleotide variant	NM_004318.4(ASPH):c.292T>A (p.Phe98Ile)	Inborn genetic diseases [RCV004420855]	uncertain significance	8	61680998	61680998	Human	1	name
597632169	CV3594488	single nucleotide variant	NM_004318.4(ASPH):c.162C>G (p.Phe54Leu)	Inborn genetic diseases [RCV004968694]	uncertain significance	8	61684130	61684130	Human	1	name
597728692	CV3594511	single nucleotide variant	NM_004318.4(ASPH):c.265A>G (p.Ile89Val)	Inborn genetic diseases [RCV004962626]	likely benign	8	61681025	61681025	Human	1	name
597632165	CV3597905	single nucleotide variant	NM_004318.4(ASPH):c.166A>T (p.Thr56Ser)	Inborn genetic diseases [RCV004968693]	uncertain significance	8	61684126	61684126	Human	1	name
597881380	CV3744778	single nucleotide variant	NM_004318.4(ASPH):c.2145G>A (p.Lys715=)	not provided [RCV005069803]	likely benign	8	61503491	61503491	Human		name
598206956	CV3906044	single nucleotide variant	NM_004318.4(ASPH):c.206C>T (p.Ser69Phe)	Inborn genetic diseases [RCV005269954]	uncertain significance	8	61684086	61684086	Human	1	name
12901360	CV407439	deletion	NM_004318.4(ASPH):c.518del (p.Asp173fs)	not provided [RCV000484490]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	8	61646851	61646851	Human		name
14396593	CV612467	single nucleotide variant	NM_004318.4(ASPH):c.171G>A (p.Trp57Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV000761586]	pathogenic	8	61684121	61684121	Human	1	name
15160386	CV711598	single nucleotide variant	NM_004318.4(ASPH):c.1020T>C (p.Thr340=)	ASPH-related disorder [RCV003960817]\|not provided [RCV000969892]	benign\|likely benign	8	61583986	61583986	Human	1	name , alternate_id
15181900	CV723161	single nucleotide variant	NM_004318.4(ASPH):c.1026A>G (p.Lys342=)	not provided [RCV000885869]	benign	8	61583980	61583980	Human		name
15119368	CV736727	single nucleotide variant	NM_004318.4(ASPH):c.1347A>G (p.Leu449=)	not provided [RCV000895713]	likely benign	8	61562834	61562834	Human		name
15131525	CV783145	single nucleotide variant	NM_004318.4(ASPH):c.1476C>T (p.Val492=)	not provided [RCV000981228]	likely benign	8	61555984	61555984	Human		name
150536706	CV1314224	single nucleotide variant	NM_004318.4(ASPH):c.823G>T (p.Glu275Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001780649]	likely pathogenic	8	61638331	61638331	Human		name
151768317	CV1450778	duplication	NM_004318.4(ASPH):c.1916dup (p.Asn639fs)	not provided [RCV001929270]	pathogenic	8	61518107	61518108	Human		name
152074861	CV1616556	single nucleotide variant	NM_004318.4(ASPH):c.647A>G (p.Glu216Gly)	ASPH-related disorder [RCV003916378]\|not provided [RCV002210459]	benign	8	61644605	61644605	Human	1	name , alternate_id
156277839	CV1971223	single nucleotide variant	NM_004318.4(ASPH):c.640G>A (p.Val214Met)	Inborn genetic diseases [RCV005266311]\|not provided [RCV002598298]	uncertain significance	8	61644612	61644612	Human	1	name
156136673	CV2113369	single nucleotide variant	NM_004318.4(ASPH):c.481G>A (p.Ala161Thr)	not provided [RCV002928404]	likely benign	8	61651059	61651059	Human		name
156368994	CV2267130	single nucleotide variant	NM_004318.4(ASPH):c.573T>A (p.Asp191Glu)	Inborn genetic diseases [RCV002814005]	uncertain significance	8	61646796	61646796	Human	1	name
156144089	CV2268840	single nucleotide variant	NM_004318.4(ASPH):c.932C>T (p.Pro311Leu)	Inborn genetic diseases [RCV002826381]	uncertain significance	8	61633685	61633685	Human	1	name
156270189	CV2290031	single nucleotide variant	NM_004318.4(ASPH):c.749A>G (p.His250Arg)	Inborn genetic diseases [RCV002855968]	uncertain significance	8	61643394	61643394	Human	1	name
156096322	CV2310175	single nucleotide variant	NM_004318.4(ASPH):c.514G>C (p.Glu172Gln)	Inborn genetic diseases [RCV002888347]	uncertain significance	8	61646855	61646855	Human	1	name
156065117	CV2346458	single nucleotide variant	NM_004318.4(ASPH):c.924A>T (p.Glu308Asp)	Inborn genetic diseases [RCV003000412]	uncertain significance	8	61633693	61633693	Human	1	name
156434406	CV2402870	deletion	NM_004318.4(ASPH):c.1394del (p.Leu465fs)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV003126308]	pathogenic	8	61562787	61562787	Human	1	name
329382703	CV2424528	single nucleotide variant	NM_004318.4(ASPH):c.566C>T (p.Ala189Val)	Inborn genetic diseases [RCV003188534]	likely benign	8	61646803	61646803	Human	1	name
329399447	CV2447059	single nucleotide variant	NM_004318.4(ASPH):c.896G>A (p.Ser299Asn)	Inborn genetic diseases [RCV003196684]\|not provided [RCV003730441]	uncertain significance	8	61633721	61633721	Human	1	name
401747934	CV2698887	single nucleotide variant	NM_004318.4(ASPH):c.572A>T (p.Asp191Val)	Inborn genetic diseases [RCV003242374]	likely benign	8	61646797	61646797	Human	1	name
401754141	CV2715615	single nucleotide variant	NM_004318.4(ASPH):c.935A>G (p.Glu312Gly)	Inborn genetic diseases [RCV003277931]	uncertain significance	8	61619019	61619019	Human	1	name
401876991	CV2793309	single nucleotide variant	NM_004318.4(ASPH):c.725T>A (p.Val242Glu)	Inborn genetic diseases [RCV003383601]	uncertain significance	8	61643418	61643418	Human	1	name
405866985	CV2842491	single nucleotide variant	NM_004318.4(ASPH):c.580G>A (p.Asp194Asn)	EBV-positive nodal T- and NK-cell lymphoma [RCV004557848]	likely benign	8	61646789	61646789	Human		name
405677125	CV3283195	single nucleotide variant	NM_004318.4(ASPH):c.331G>C (p.Glu111Gln)	Inborn genetic diseases [RCV004420856]	uncertain significance	8	61653652	61653652	Human	1	name
405677138	CV3283197	single nucleotide variant	NM_004318.4(ASPH):c.359C>T (p.Pro120Leu)	Inborn genetic diseases [RCV004420858]	uncertain significance	8	61653624	61653624	Human	1	name
405677147	CV3283198	single nucleotide variant	NM_004318.4(ASPH):c.563T>C (p.Met188Thr)	Inborn genetic diseases [RCV004420859]	likely benign	8	61646806	61646806	Human	1	name
596942618	CV3542643	deletion	NM_004318.4(ASPH):c.2160del (p.Asp720fs)	not provided [RCV004798227]	likely pathogenic	8	61503476	61503476	Human		name
597632175	CV3594509	single nucleotide variant	NM_004318.4(ASPH):c.521G>A (p.Gly174Glu)	Inborn genetic diseases [RCV004968696]	uncertain significance	8	61646848	61646848	Human	1	name
597728641	CV3597877	single nucleotide variant	NM_004318.4(ASPH):c.959C>G (p.Pro320Arg)	Inborn genetic diseases [RCV004962618]	uncertain significance	8	61618995	61618995	Human	1	name
597632158	CV3597886	single nucleotide variant	NM_004318.4(ASPH):c.772C>G (p.Gln258Glu)	Inborn genetic diseases [RCV004968691]	uncertain significance	8	61642906	61642906	Human	1	name
597632162	CV3597896	single nucleotide variant	NM_004318.4(ASPH):c.922G>A (p.Glu308Lys)	Inborn genetic diseases [RCV004968692]	uncertain significance	8	61633695	61633695	Human	1	name
597728665	CV3597914	single nucleotide variant	NM_004318.4(ASPH):c.991C>G (p.Pro331Ala)	Inborn genetic diseases [RCV004962622]	uncertain significance	8	61584015	61584015	Human	1	name
597728671	CV3597925	single nucleotide variant	NM_004318.4(ASPH):c.907G>A (p.Val303Met)	Inborn genetic diseases [RCV004962623]	uncertain significance	8	61633710	61633710	Human	1	name
598206662	CV3905984	single nucleotide variant	NM_004318.4(ASPH):c.400G>T (p.Val134Phe)	Inborn genetic diseases [RCV005269894]	uncertain significance	8	61653583	61653583	Human	1	name
598206932	CV3906038	single nucleotide variant	NM_004318.4(ASPH):c.814G>A (p.Glu272Lys)	Inborn genetic diseases [RCV005269948]	uncertain significance	8	61638340	61638340	Human	1	name
598206983	CV3906051	single nucleotide variant	NM_004318.4(ASPH):c.895A>C (p.Ser299Arg)	Inborn genetic diseases [RCV005269961]	uncertain significance	8	61633722	61633722	Human	1	name
617153758	CV4016843	deletion	NM_004318.4(ASPH):c.1747del (p.Tyr583fs)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV005415935]	likely pathogenic	8	61548088	61548088	Human	1	name
15201742	CV723162	single nucleotide variant	NM_004318.4(ASPH):c.844C>T (p.Pro282Ser)	ASPH-related disorder [RCV003910591]\|Inborn genetic diseases [RCV003279142]\|not provided [RCV000891278]\|not specified [RCV001700499]	benign\|likely benign\|uncertain significance	8	61637992	61637992	Human	2	name , alternate_id
150338575	CV1174296	single nucleotide variant	NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001542582]	pathogenic\|likely pathogenic	8	61548140	61548140	Human	1	name
150406303	CV1200214	single nucleotide variant	NM_004318.4(ASPH):c.1782G>A (p.Trp594Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV001580280]	pathogenic	8	61526095	61526095	Human	1	name
150432171	CV1200558	single nucleotide variant	NM_004318.4(ASPH):c.1771G>T (p.Glu591Ter)	not provided [RCV001581281]	likely pathogenic	8	61526106	61526106	Human		name
150529435	CV1288980	single nucleotide variant	NM_004318.4(ASPH):c.1799A>T (p.Glu600Val)	not provided [RCV001727449]	uncertain significance	8	61526078	61526078	Human		name
8691358	CV141318	single nucleotide variant	NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV000125464]\|Thoracic aortic aneurysm or dissection [RCV005252763]	pathogenic\|likely pathogenic	8	61503433	61503433	Human	2	name
151833084	CV1416446	single nucleotide variant	NM_004318.4(ASPH):c.1384G>A (p.Val462Met)	Inborn genetic diseases [RCV004043916]\|not provided [RCV002014500]	uncertain significance	8	61562797	61562797	Human	1	name
155994803	CV1879427	single nucleotide variant	NM_004318.4(ASPH):c.1298T>G (p.Leu433Arg)	not provided [RCV003076291]	uncertain significance	8	61567170	61567170	Human		name
156150206	CV1895917	single nucleotide variant	NM_004318.4(ASPH):c.2179G>A (p.Val727Ile)	not provided [RCV003082526]	uncertain significance	8	61503457	61503457	Human		name
156376273	CV1930508	single nucleotide variant	NM_004318.4(ASPH):c.1517A>T (p.Glu506Val)	Inborn genetic diseases [RCV004070831]\|not provided [RCV002633857]	uncertain significance	8	61555943	61555943	Human	1	name
156342261	CV1974178	single nucleotide variant	NM_004318.4(ASPH):c.1892G>A (p.Trp631Ter)	not provided [RCV002601343]	pathogenic	8	61525985	61525985	Human		name
156220212	CV2067839	single nucleotide variant	NM_004318.4(ASPH):c.2127G>T (p.Lys709Asn)	not provided [RCV002829655]	uncertain significance	8	61503509	61503509	Human		name
156089292	CV2092278	single nucleotide variant	NM_004318.4(ASPH):c.1061G>T (p.Arg354Met)	ASPH-related disorder [RCV003961165]\|not provided [RCV002912980]	benign	8	61583945	61583945	Human	1	name , alternate_id
156400630	CV2199312	single nucleotide variant	NM_004318.4(ASPH):c.2105T>C (p.Ile702Thr)	Inborn genetic diseases [RCV002656601]	uncertain significance	8	61517549	61517549	Human	1	name
156382165	CV2212620	single nucleotide variant	NM_004318.4(ASPH):c.1514C>A (p.Ala505Asp)	Inborn genetic diseases [RCV002678904]	uncertain significance	8	61555946	61555946	Human	1	name
156258006	CV2219942	single nucleotide variant	NM_004318.4(ASPH):c.1612G>A (p.Val538Ile)	Inborn genetic diseases [RCV002702849]	uncertain significance	8	61553045	61553045	Human	1	name
156113906	CV2224986	single nucleotide variant	NM_004318.4(ASPH):c.1721C>T (p.Pro574Leu)	Inborn genetic diseases [RCV002761858]	uncertain significance	8	61548114	61548114	Human	1	name
156319407	CV2260839	single nucleotide variant	NM_004318.4(ASPH):c.2005A>G (p.Ile669Val)	Inborn genetic diseases [RCV002809895]	likely benign	8	61517649	61517649	Human	1	name
156101891	CV2352232	single nucleotide variant	NM_004318.4(ASPH):c.2258G>A (p.Arg753His)	Inborn genetic diseases [RCV002980049]\|not provided [RCV003546941]	uncertain significance	8	61503378	61503378	Human	1	name
156043201	CV2381528	single nucleotide variant	NM_004318.4(ASPH):c.1793G>A (p.Arg598Gln)	Inborn genetic diseases [RCV002704498]	uncertain significance	8	61526084	61526084	Human	1	name
156142995	CV2393511	single nucleotide variant	NM_004318.4(ASPH):c.1011T>G (p.Phe337Leu)	Inborn genetic diseases [RCV002763651]	uncertain significance	8	61583995	61583995	Human	1	name
401737190	CV2718021	single nucleotide variant	NM_004318.4(ASPH):c.1388G>A (p.Gly463Glu)	Inborn genetic diseases [RCV003273360]	uncertain significance	8	61562793	61562793	Human	1	name
401780268	CV2725964	single nucleotide variant	NM_004318.4(ASPH):c.2258G>T (p.Arg753Leu)	Inborn genetic diseases [RCV003287937]	uncertain significance	8	61503378	61503378	Human	1	name
401864211	CV2767549	single nucleotide variant	NM_004318.4(ASPH):c.1277G>A (p.Arg426His)	Inborn genetic diseases [RCV003359285]	uncertain significance	8	61567191	61567191	Human	1	name
401874979	CV2781375	single nucleotide variant	NM_004318.4(ASPH):c.1309A>G (p.Arg437Gly)	Inborn genetic diseases [RCV003362494]	uncertain significance	8	61562872	61562872	Human	1	name
401881052	CV2789476	single nucleotide variant	NM_004318.4(ASPH):c.2084T>A (p.Ile695Asn)	Inborn genetic diseases [RCV003385218]	uncertain significance	8	61517570	61517570	Human	1	name
405008906	CV2926958	single nucleotide variant	NM_004318.4(ASPH):c.1482T>A (p.Tyr494Ter)	not provided [RCV003576562]	pathogenic	8	61555978	61555978	Human		name
405705386	CV3224791	single nucleotide variant	NM_004318.4(ASPH):c.1680G>A (p.Trp560Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV003990172]	likely pathogenic	8	61548155	61548155	Human	1	name
405676964	CV3283189	single nucleotide variant	NM_004318.4(ASPH):c.1049A>G (p.Lys350Arg)	Inborn genetic diseases [RCV004420850]	uncertain significance	8	61583957	61583957	Human	1	name
405676969	CV3283190	single nucleotide variant	NM_004318.4(ASPH):c.1127G>A (p.Arg376Gln)	Inborn genetic diseases [RCV004420851]	uncertain significance	8	61576794	61576794	Human	1	name
405676974	CV3283191	single nucleotide variant	NM_004318.4(ASPH):c.1802G>A (p.Gly601Asp)	Inborn genetic diseases [RCV004420852]	uncertain significance	8	61526075	61526075	Human	1	name
405676982	CV3283192	single nucleotide variant	NM_004318.4(ASPH):c.2071C>A (p.Leu691Met)	Inborn genetic diseases [RCV004420853]	uncertain significance	8	61517583	61517583	Human	1	name
405677112	CV3283193	single nucleotide variant	NM_004318.4(ASPH):c.2146G>A (p.Val716Met)	Inborn genetic diseases [RCV004420854]	uncertain significance	8	61503490	61503490	Human	1	name
407501537	CV3480673	single nucleotide variant	NM_004318.4(ASPH):c.1217A>G (p.Gln406Arg)	Inborn genetic diseases [RCV004669788]	uncertain significance	8	61567251	61567251	Human	1	name
597632172	CV3594499	single nucleotide variant	NM_004318.4(ASPH):c.1768T>G (p.Leu590Val)	Inborn genetic diseases [RCV004968695]	uncertain significance	8	61526109	61526109	Human	1	name
597728705	CV3594517	single nucleotide variant	NM_004318.4(ASPH):c.1872C>G (p.Asp624Glu)	Inborn genetic diseases [RCV004962628]	uncertain significance	8	61526005	61526005	Human	1	name
597728677	CV3597937	single nucleotide variant	NM_004318.4(ASPH):c.2066T>A (p.Met689Lys)	Inborn genetic diseases [RCV004962624]	uncertain significance	8	61517588	61517588	Human	1	name
598223144	CV3892199	single nucleotide variant	NM_004318.4(ASPH):c.1552G>T (p.Gly518Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV005253538]	pathogenic	8	61553105	61553105	Human	1	name
598206865	CV3906022	single nucleotide variant	NM_004318.4(ASPH):c.1685G>A (p.Arg562His)	Inborn genetic diseases [RCV005269932]	uncertain significance	8	61548150	61548150	Human	1	name
598206907	CV3906031	single nucleotide variant	NM_004318.4(ASPH):c.1210A>T (p.Thr404Ser)	Inborn genetic diseases [RCV005269941]	uncertain significance	8	61567258	61567258	Human	1	name
617153757	CV4016842	single nucleotide variant	NM_004318.4(ASPH):c.1724G>A (p.Trp575Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV005415934]	pathogenic	8	61548111	61548111	Human	1	name
13519203	CV491268	single nucleotide variant	NM_004318.4(ASPH):c.1273C>T (p.Arg425Cys)	not provided [RCV000597816]	uncertain significance	8	61567195	61567195	Human		name
15190502	CV723160	single nucleotide variant	NM_004318.4(ASPH):c.1402G>A (p.Gly468Arg)	not provided [RCV000888116]	benign	8	61562779	61562779	Human	1	name
15190502	CV723160	single nucleotide variant	NM_004318.4(ASPH):c.1402G>A (p.Gly468Arg)	not provided [RCV000888116]	benign	8	61562779	61562780	Human	1	name
15097820	CV751218	single nucleotide variant	NM_004318.4(ASPH):c.1972A>G (p.Thr658Ala)	not provided [RCV000914098]	likely benign	8	61518052	61518052	Human		name
405247438	CV3158797	microsatellite	NM_004318.4(ASPH):c.1173GAG[1] (p.Arg393del)	not provided [RCV003869139]	uncertain significance	8	61567290	61567292	Human		name
150490062	CV1274631	insertion	NM_004318.4(ASPH):c.322+12710_322+12711insGAC	ASPH-related disorder [RCV003941088]\|not provided [RCV001700634]	likely benign	8	61668257	61668258	Human	1	name , alternate_id
598217355	CV3895340	deletion	NM_004318.4(ASPH):c.1171_1175del (p.Lys391fs)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV005360229]	likely pathogenic	8	61567293	61567297	Human	1	name
150339506	CV1174822	duplication	NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter)	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV004546665]\|not provided [RCV001543545]	pathogenic\|likely pathogenic	8	61503452	61503453	Human	1	name
150486039	CV1274340	insertion	NM_004318.4(ASPH):c.322+12706_322+12707insTCCCA	not provided [RCV001698857]	likely benign	8	61668261	61668262	Human		name
150529436	CV1288981	duplication	NM_004318.4(ASPH):c.34_51dup (p.Asn12_Gly17dup)	ASPH-related disorder [RCV003931300]\|not provided [RCV001727450]	likely benign\|uncertain significance	8	61714320	61714321	Human	1	name , alternate_id
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]\|Asph ... (more) an>yxiating thoracic dystrophy 5 [RCV005356047]\|Jeune thoracic dystrophy [RCV000515920]\|Nephronophthisis 13 [RCV000850616]\|WDR19-related disorder [RCV005250067]\|not provided [RCV003139712]	pathogenic\|likely pathogenic\|uncertain significance	4	39205626	39205627	Human	7	trait
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 [RCV003224 ... (more) 150]\|Cranioectodermal dysplasia [RCV000754960]\|Leber congenital amaurosis [RCV001262101]\|Nephronophthisis 13 [RCV000850617]\|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	trait
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 [RCV00227822 ... (more) 0]\|Cranioectodermal dysplasia 4 [RCV001144397]\|Nephronophthisis 13 [RCV002244683]\|Senior-Loken syndrome 8 [RCV002244684]\|not provided [RCV001812737]\|not specified [RCV000253150]	benign\|likely benign	4	39224985	39224985	Human	5	trait
11586715	CV293387	single nucleotide variant	NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)	Asphyxiating thoracic dystrophy 5 [RCV000345040]\|Asphyxiating thoracic dystrophy 5 [RCV001051428]\|Asphyxiating thoracic dystrophy 5 [RCV002480215]\|Cranioectodermal dysplasia 4 [RCV000289 ... (more) 997]\|Intellectual disability [RCV001252631]\|Retinal dystrophy [RCV004816595]\|not provided [RCV001573220]	likely benign\|uncertain significance	4	39215943	39215943	Human	6	trait
11591116	CV298360	single nucleotide variant	NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)	Asphyxiating thoracic dystrophy 5 [RCV000325851]\|Asphyxiating thoracic dystrophy 5 [RCV001308838]\|Asphyxiating thoracic dystrophy 5 [RCV002488766]\|Cranioectodermal dysplasia 4 [RCV000380 ... (more) 471]\|Inborn genetic diseases [RCV002520240]\|not provided [RCV004591127]	uncertain significance	4	39218016	39218016	Human	3	trait
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 [RCV000350 ... (more) 808]\|Nephronophthisis 13 [RCV002244829]\|Senior-Loken syndrome 8 [RCV002244830]\|not provided [RCV003114504]\|not specified [RCV001700337]	benign\|likely benign\|uncertain significance	4	39231968	39231968	Human	4	trait
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 [RCV000274 ... (more) 582]\|Inborn genetic diseases [RCV002520239]\|not specified [RCV001002087]	uncertain significance	4	39214639	39214639	Human	3	trait
11587581	CV298427	single nucleotide variant	NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)	Asphyxiating thoracic dystrophy 5 [RCV000296083]\|Asphyxiating thoracic dystrophy 5 [RCV001209905]\|Asphyxiating thoracic dystrophy 5 [RCV002504162]\|Cranioectodermal dysplasia 4 [RCV000387 ... (more) 978]\|not provided [RCV001358231]	uncertain significance	4	39255862	39255862	Human	2	trait
11584793	CV298431	single nucleotide variant	NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg)	Asphyxiating thoracic dystrophy 5 [RCV000354756]\|Asphyxiating thoracic dystrophy 5 [RCV000945504]\|Asphyxiating thoracic dystrophy 5 [RCV002502342]\|Cranioectodermal dysplasia 4 [RCV000276 ... (more) 391]\|Nephronophthisis 13 [RCV002244833]\|Senior-Loken syndrome 8 [RCV002244834]\|not provided [RCV001727700]\|not specified [RCV001700078]	benign\|likely benign\|uncertain significance	4	39270033	39270033	Human	4	trait
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 [RCV000288 ... (more) 576]\|WDR19-related disorder [RCV004530412]\|not provided [RCV000488404]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39274909	39274909	Human	5	trait
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 [RCV00227928 ... (more) 2]\|Cranioectodermal dysplasia 4 [RCV001149215]\|WDR19-related disorder [RCV004541573]\|not provided [RCV001532019]\|not specified [RCV000500098]	likely benign\|uncertain significance	4	39255854	39255854	Human	6	trait
13464492	CV453413	single nucleotide variant	NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)	Asphyxiating thoracic dystrophy 5 [RCV000542232]\|Asphyxiating thoracic dystrophy 5 [RCV001150601]\|Asphyxiating thoracic dystrophy 5 [RCV005398865]\|Cranioectodermal dysplasia 4 [RCV001150 ... (more) 602]	likely benign\|uncertain significance	4	39232258	39232258	Human	2	trait
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 [RCV001144 ... (more) 506]\|Inborn genetic diseases [RCV002549998]\|not provided [RCV000998234]	uncertain significance	4	39234841	39234841	Human	3	trait
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 [RCV001150 ... (more) 370]\|not provided [RCV001561180]\|not specified [RCV001819714]	uncertain significance	4	39199561	39199561	Human	2	trait
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 [RCV001150 ... (more) 368]\|Inborn genetic diseases [RCV003246730]	uncertain significance	4	39199550	39199550	Human	3	trait
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 [RCV00227663 ... (more) 5]\|Cranioectodermal dysplasia 4 [RCV001150372]\|WDR19-related disorder [RCV004528395]	uncertain significance	4	39205239	39205239	Human	6	trait
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 [RCV001146 ... (more) 289]	uncertain significance	4	39228219	39228219	Human	2	trait
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 [RCV001146 ... (more) 292]	uncertain significance	4	39228355	39228355	Human	2	trait
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 [RCV001149 ... (more) 090]\|Inborn genetic diseases [RCV003163332]	uncertain significance	4	39231901	39231901	Human	3	trait
28873153	CV890648	single nucleotide variant	NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)	Asphyxiating thoracic dystrophy 5 [RCV001146555]\|Asphyxiating thoracic dystrophy 5 [RCV002480538]\|Asphyxiating thoracic dystrophy 5 [RCV002559414]\|Cranioectodermal dysplasia 4 [RCV001146 ... (more) 556]\|Inborn genetic diseases [RCV002557139]\|Retinal dystrophy [RCV004813802]	uncertain significance	4	39270053	39270053	Human	5	trait
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 [RCV00227664 ... (more) 5]\|Cranioectodermal dysplasia 4 [RCV001150824]\|Inborn genetic diseases [RCV003163337]\|WDR19-related disorder [RCV004538377]	uncertain significance	4	39274925	39274925	Human	7	trait
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 [RCV00227664 ... (more) 0]\|Cranioectodermal dysplasia 4 [RCV001146557]\|WDR19-related disorder [RCV004538371]	uncertain significance	4	39270105	39270105	Human	6	trait
598217362	CV3895341	insertion	NM_004318.4(ASPH):c.322+12706_322+12707insTCCCAGAA	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome [RCV005360230]	uncertain significance	8	61668261	61668262	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	trait
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	trait
126736811	CV1005262	single nucleotide variant	NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)	Asphyxiating thoracic dystrophy 5 [RCV001313901]\|Asphyxiating thoracic dystrophy 5 [RCV002476453]	likely benign\|uncertain significance	4	39244290	39244290	Human	1	trait
126739340	CV1005266	single nucleotide variant	NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp)	Asphyxiating thoracic dystrophy 5 [RCV001314229]\|Asphyxiating thoracic dystrophy 5 [RCV005038061]	uncertain significance	4	39266067	39266067	Human	1	trait
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	trait
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	trait
126913164	CV1042761	single nucleotide variant	NM_025132.4(WDR19):c.1956G>C (p.Met652Ile)	Asphyxiating thoracic dystrophy 5 [RCV001359072]\|Asphyxiating thoracic dystrophy 5 [RCV002493835]	uncertain significance	4	39228664	39228664	Human	1	trait
126921297	CV1042764	single nucleotide variant	NM_025132.4(WDR19):c.2948C>T (p.Ala983Val)	Asphyxiating thoracic dystrophy 5 [RCV001374309]\|Asphyxiating thoracic dystrophy 5 [RCV005038154]	uncertain significance	4	39253977	39253977	Human	1	trait
126911043	CV1042767	single nucleotide variant	NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys)	Asphyxiating thoracic dystrophy 5 [RCV001369039]\|Asphyxiating thoracic dystrophy 5 [RCV002504613]	uncertain significance	4	39255875	39255875	Human	1	trait
126914118	CV1042773	single nucleotide variant	NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp)	Asphyxiating thoracic dystrophy 5 [RCV001370359]\|Asphyxiating thoracic dystrophy 5 [RCV002476689]	uncertain significance	4	39273028	39273028	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
150330709	CV1168639	microsatellite	NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)	Asphyxiating thoracic dystrophy 5 [RCV001536016]\|Asphyxiating thoracic dystrophy 5 [RCV003771654]	pathogenic\|likely pathogenic	4	39244504	39244505	Human		trait
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	trait
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	trait
151777318	CV1342701	single nucleotide variant	NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu)	Asphyxiating thoracic dystrophy 5 [RCV001988808]\|Asphyxiating thoracic dystrophy 5 [RCV005032073]	uncertain significance	4	39273017	39273017	Human	1	trait
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	trait
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	trait
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	trait
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	trait
151861163	CV1364884	single nucleotide variant	NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met)	Asphyxiating thoracic dystrophy 5 [RCV002017772]\|Asphyxiating thoracic dystrophy 5 [RCV002479765]	uncertain significance	4	39274821	39274821	Human	1	trait
151861092	CV1369274	single nucleotide variant	NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser)	Asphyxiating thoracic dystrophy 5 [RCV002034369]\|Asphyxiating thoracic dystrophy 5 [RCV005032135]	uncertain significance	4	39254001	39254001	Human	1	trait
151798968	CV1373779	single nucleotide variant	NM_025132.4(WDR19):c.3281G>A (p.Arg1094His)	Asphyxiating thoracic dystrophy 5 [RCV001917535]\|Asphyxiating thoracic dystrophy 5 [RCV002482707]	uncertain significance	4	39268014	39268014	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
151828059	CV1435611	single nucleotide variant	NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly)	Asphyxiating thoracic dystrophy 5 [RCV001955403]\|Asphyxiating thoracic dystrophy 5 [RCV005031939]	uncertain significance	4	39278630	39278630	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
151716758	CV1513130	single nucleotide variant	NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)	Asphyxiating thoracic dystrophy 5 [RCV001890451]\|Asphyxiating thoracic dystrophy 5 [RCV002503474]	pathogenic\|likely pathogenic	4	39268052	39268052	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
402515871	CV3089805	deletion	NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)	Asphyxiating thoracic dystrophy 5 [RCV003780680]\|Asphyxiating thoracic dystrophy 5 [RCV005038507]	pathogenic\|likely pathogenic	4	39231951	39231952	Human	1	trait
597743794	CV3721496	single nucleotide variant	NM_025132.4(WDR19):c.3520C>T (p.Arg1174Cys)	Asphyxiating thoracic dystrophy 5 [RCV005039129]\|Asphyxiating thoracic dystrophy 5 [RCV005223181]	uncertain significance	4	39273016	39273016	Human	1	trait
13498024	CV453414	single nucleotide variant	NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys)	Asphyxiating thoracic dystrophy 5 [RCV000538980]\|Asphyxiating thoracic dystrophy 5 [RCV005034119]	uncertain significance	4	39277087	39277087	Human	1	trait
13625301	CV519919	single nucleotide variant	NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser)	Asphyxiating thoracic dystrophy 5 [RCV000653251]\|Asphyxiating thoracic dystrophy 5 [RCV002499125]	uncertain significance	4	39277111	39277111	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
26907746	CV829138	single nucleotide variant	NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu)	Asphyxiating thoracic dystrophy 5 [RCV001052352]\|Asphyxiating thoracic dystrophy 5 [RCV002489622]	uncertain significance	4	39257517	39257517	Human	1	trait
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	trait
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	trait
38470156	CV932325	single nucleotide variant	NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met)	Asphyxiating thoracic dystrophy 5 [RCV001202523]\|Asphyxiating thoracic dystrophy 5 [RCV005036453]	uncertain significance	4	39270091	39270091	Human	1	trait
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	trait
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	trait
38479391	CV943991	single nucleotide variant	NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu)	Asphyxiating thoracic dystrophy 5 [RCV001234298]\|Asphyxiating thoracic dystrophy 5 [RCV002491757]	uncertain significance	4	39274901	39274901	Human	1	trait
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	trait
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	trait
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	trait
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	trait
126726570	CV990114	single nucleotide variant	NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala)	Asphyxiating thoracic dystrophy 5 [RCV001302932]\|Asphyxiating thoracic dystrophy 5 [RCV002486167]	uncertain significance	4	39215972	39215972	Human	1	trait
126749603	CV990115	single nucleotide variant	NM_025132.4(WDR19):c.1234G>A (p.Val412Ile)	Asphyxiating thoracic dystrophy 5 [RCV001297166]\|Asphyxiating thoracic dystrophy 5 [RCV002486135]	uncertain significance	4	39216195	39216195	Human	1	trait
126738967	CV990119	single nucleotide variant	NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg)	Asphyxiating thoracic dystrophy 5 [RCV001295548]\|Asphyxiating thoracic dystrophy 5 [RCV005038031]	uncertain significance	4	39224980	39224980	Human	1	trait
126764791	CV990120	single nucleotide variant	NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr)	Asphyxiating thoracic dystrophy 5 [RCV001301232]\|Asphyxiating thoracic dystrophy 5 [RCV005038044]	uncertain significance	4	39228253	39228253	Human	1	trait
126727122	CV990121	single nucleotide variant	NM_025132.4(WDR19):c.2320A>G (p.Ile774Val)	Asphyxiating thoracic dystrophy 5 [RCV001303083]\|Asphyxiating thoracic dystrophy 5 [RCV005038047]	uncertain significance	4	39234832	39234832	Human	1	trait
126733474	CV990124	single nucleotide variant	NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn)	Asphyxiating thoracic dystrophy 5 [RCV001294746]\|Asphyxiating thoracic dystrophy 5 [RCV005038030]	uncertain significance	4	39269996	39269996	Human	1	trait
126746703	CV990128	single nucleotide variant	NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr)	Asphyxiating thoracic dystrophy 5 [RCV001296618]\|Asphyxiating thoracic dystrophy 5 [RCV002504434]	uncertain significance	4	39278588	39278588	Human	1	trait
126741595	CV1005260	single nucleotide variant	NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001325366]\|Asphyxiating thoracic dystrophy 5 [RCV002486303]\|Inborn genetic diseases [RCV004679079]	uncertain significance	4	39231873	39231873	Human	2	trait
126735345	CV1005264	single nucleotide variant	NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)	Asphyxiating thoracic dystrophy 5 [RCV001313707]\|Asphyxiating thoracic dystrophy 5 [RCV002486223]\|Inborn genetic diseases [RCV002543630]\|Retinitis pigmentosa [RCV001724291]	uncertain significance	4	39255895	39255895	Human	4	trait
126725342	CV1015867	single nucleotide variant	NM_024753.5(TTC21B):c.368G>A (p.Arg123His)	Asphyxiating thoracic dystrophy 4 [RCV001331345]\|Asphyxiating thoracic dystrophy 4 [RCV002493724]\|Jeune thoracic dystrophy [RCV003120555]\|Nephronophthisis 12 [RCV003988867]	uncertain significance	2	165945585	165945585	Human	4	trait
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	trait
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	trait
126751303	CV1025859	single nucleotide variant	NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe)	Asphyxiating thoracic dystrophy 5 [RCV001352413]\|Asphyxiating thoracic dystrophy 5 [RCV005038115]\|Inborn genetic diseases [RCV004036685]	uncertain significance	4	39270051	39270051	Human	2	trait
126922201	CV1042759	single nucleotide variant	NM_025132.4(WDR19):c.1904A>G (p.His635Arg)	Asphyxiating thoracic dystrophy 5 [RCV001364390]\|Asphyxiating thoracic dystrophy 5 [RCV005038134]\|Inborn genetic diseases [RCV002550045]	uncertain significance	4	39228612	39228612	Human	2	trait
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	trait
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	trait
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	trait
150454046	CV1203944	single nucleotide variant	NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)	Asphyxiating thoracic dystrophy 5 [RCV002501945]\|Asphyxiating thoracic dystrophy 5 [RCV002571162]\|Cone dystrophy [RCV001591894]	uncertain significance	4	39218088	39218088	Human	3	trait
150454049	CV1203945	single nucleotide variant	NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)	Asphyxiating thoracic dystrophy 5 [RCV002501946]\|Asphyxiating thoracic dystrophy 5 [RCV002571163]\|Cone dystrophy [RCV001591895]	pathogenic\|likely pathogenic	4	39244311	39244311	Human	3	trait
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	trait
8657811	CV132655	single nucleotide variant	NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)	Asphyxiating thoracic dystrophy 5 [RCV001854544]\|Asphyxiating thoracic dystrophy 5 [RCV002477273]\|Nephronophthisis 13 [RCV000115013]\|Senior-Loken syndrome 8 [RCV001281118]\|not provided [RCV000788500]	pathogenic\|likely pathogenic	4	39274945	39274945	Human	3	trait
8661002	CV136099	single nucleotide variant	NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=)	Asphyxiating thoracic dystrophy 4 [RCV000370868]\|Asphyxiating thoracic dystrophy 4 [RCV002490816]\|Connective tissue disorder [RCV002277179]\|Jeune thoracic dystrophy [RCV000527028]\|Nephronophthisis 12 [RCV000276462]\|not provi ... (more) ded [RCV001811977]\|not specified [RCV000118725]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	165911454	165911454	Human	5	trait
8661005	CV136102	single nucleotide variant	NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu)	Asphyxiating thoracic dystrophy 4 [RCV001131125]\|Asphyxiating thoracic dystrophy 4 [RCV005394401]\|Jeune thoracic dystrophy [RCV001078717]\|Nephronophthisis 12 [RCV001131126]\|TTC21B-related disorder [RCV004529986]\|not provided ... (more) [RCV000118728]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	165880687	165880687	Human	4	trait
8661007	CV136104	single nucleotide variant	NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)	Asphyxiating thoracic dystrophy 4 [RCV000386132]\|Asphyxiating thoracic dystrophy 4 [RCV002490817]\|Connective tissue disorder [RCV002277182]\|Jeune thoracic dystrophy [RCV001086745]\|Nephronophthisis 12 [RCV000296525]\|not provi ... (more) ded [RCV001573936]\|not specified [RCV000118730]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	165941072	165941072	Human	5	trait
8661010	CV136107	single nucleotide variant	NM_024753.5(TTC21B):c.838A>G (p.Met280Val)	Asphyxiating thoracic dystrophy 4 [RCV000300296]\|Asphyxiating thoracic dystrophy 4 [RCV002505050]\|Connective tissue disorder [RCV002277183]\|Jeune thoracic dystrophy [RCV001079775]\|Nephronophthisis 12 [RCV000359707]\|not provi ... (more) ded [RCV001573083]\|not specified [RCV000118733]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	165931814	165931814	Human	5	trait
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	trait
151849926	CV1368622	single nucleotide variant	NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp)	Asphyxiating thoracic dystrophy 5 [RCV001978789]\|Asphyxiating thoracic dystrophy 5 [RCV005031951]\|Inborn genetic diseases [RCV003339846]	uncertain significance	4	39269984	39269984	Human	2	trait
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	trait
151789342	CV1388959	single nucleotide variant	NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)	Asphyxiating thoracic dystrophy 5 [RCV002010536]\|Asphyxiating thoracic dystrophy 5 [RCV002479727]\|Inborn genetic diseases [RCV004045951]	uncertain significance	4	39268013	39268013	Human	2	trait
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	trait
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	trait
151710962	CV1443585	single nucleotide variant	NM_025132.4(WDR19):c.3646A>G (p.Met1216Val)	Asphyxiating thoracic dystrophy 5 [RCV001907993]\|Asphyxiating thoracic dystrophy 5 [RCV002478190]\|Inborn genetic diseases [RCV004681281]\|Retinal dystrophy [RCV004815699]	uncertain significance	4	39274888	39274888	Human	4	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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]\|W ... (more) DR19-related disorder [RCV004532742]\|not provided [RCV000723861]\|not specified [RCV000154140]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39253208	39253208	Human	5	trait
10045012	CV188993	single nucleotide variant	NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile)	Asphyxiating thoracic dystrophy 5 [RCV002515238]\|Asphyxiating thoracic dystrophy 5 [RCV005031700]\|Nephronophthisis 13 [RCV003989482]\|Retinal dystrophy [RCV004815270]\|not provided [RCV000171376]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	4	39253193	39253193	Human	4	trait
10050213	CV191595	single nucleotide variant	NM_024753.5(TTC21B):c.1697A>G (p.His566Arg)	Asphyxiating thoracic dystrophy 4 [RCV000764280]\|Asphyxiating thoracic dystrophy 4 [RCV001134339]\|Jeune thoracic dystrophy [RCV001078741]\|Nephronophthisis 12 [RCV000755750]\|TTC21B-related disorder [RCV004734779]\|not provided ... (more) [RCV000174799]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	165917459	165917459	Human	4	trait
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	trait
10406131	CV212121	single nucleotide variant	NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu)	Asphyxiating thoracic dystrophy 4 [RCV001134079]\|Asphyxiating thoracic dystrophy 4 [RCV002492924]\|Jeune thoracic dystrophy [RCV000198827]\|Nephronophthisis 12 [RCV001134078]\|TTC21B-related disorder [RCV004734854]\|not provided ... (more) [RCV000417538]	likely benign\|uncertain significance	2	165890519	165890519	Human	4	trait
10767870	CV221116	single nucleotide variant	NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His)	Asphyxiating thoracic dystrophy 4 [RCV001135464]\|Asphyxiating thoracic dystrophy 4 [RCV005016562]\|Jeune thoracic dystrophy [RCV000205446]\|Nephronophthisis 12 [RCV001135465]\|TTC21B-related disorder [RCV004734855]\|not provided ... (more) [RCV000282631]	uncertain significance	2	165874774	165874774	Human	4	trait
10767573	CV221117	single nucleotide variant	NM_024753.5(TTC21B):c.2322+3A>G	Asphyxiating thoracic dystrophy 4 [RCV001135708]\|Asphyxiating thoracic dystrophy 4 [RCV002500650]\|Connective tissue disorder [RCV002277565]\|Jeune thoracic dystrophy [RCV000204934]\|Joubert syndrome 1 [RCV000986866]\|Nephronoph ... (more) thisis 12 [RCV001135707]\|not provided [RCV001573219]\|not specified [RCV000239097]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	165912511	165912511	Human	6	trait
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	trait
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 prov ... (more) ided [RCV001689917]\|not specified [RCV000252308]	benign\|likely benign	4	39205698	39205698	Human	4	trait
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 prov ... (more) ided [RCV001711734]\|not specified [RCV000242684]	benign	4	39214601	39214601	Human	4	trait
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]\|Senio ... (more) r-Loken syndrome 8 [RCV002244706]\|not provided [RCV004717124]\|not specified [RCV000247332]	benign\|likely benign	4	39214620	39214620	Human	5	trait
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	trait
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]\|Senio ... (more) r-Loken syndrome 8 [RCV002244682]\|not provided [RCV001610735]\|not specified [RCV000249388]	benign\|likely benign	4	39217973	39217973	Human	5	trait
11545446	CV251480	single nucleotide variant	NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr)	Asphyxiating thoracic dystrophy 5 [RCV001084829]\|Asphyxiating thoracic dystrophy 5 [RCV001144400]\|Connective tissue disorder [RCV002278221]\|Cranioectodermal dysplasia 4 [RCV001144399]\|Nephronophthisis 13 [RCV002244685]\|Senio ... (more) r-Loken syndrome 8 [RCV002244686]\|not provided [RCV001812738]\|not specified [RCV000245151]	benign	4	39225011	39225011	Human	5	trait
11542837	CV251482	single nucleotide variant	NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly)	Asphyxiating thoracic dystrophy 5 [RCV000653249]\|Asphyxiating thoracic dystrophy 5 [RCV002244687]\|Cranioectodermal dysplasia 4 [RCV002244689]\|Nephronophthisis 13 [RCV002244688]\|Senior-Loken syndrome 8 [RCV002244690]\|not prov ... (more) ided [RCV001729496]\|not specified [RCV000241666]	benign\|likely benign	4	39228623	39228623	Human	4	trait
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 prov ... (more) ided [RCV004715805]\|not specified [RCV000245455]	benign	4	39257570	39257570	Human	4	trait
11549418	CV251484	single nucleotide variant	NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser)	Asphyxiating thoracic dystrophy 5 [RCV000395830]\|Asphyxiating thoracic dystrophy 5 [RCV000554837]\|Connective tissue disorder [RCV002278222]\|Cranioectodermal dysplasia 4 [RCV000307588]\|Nephronophthisis 13 [RCV002244695]\|Senio ... (more) r-Loken syndrome 8 [RCV002244696]\|not provided [RCV001683117]\|not specified [RCV000250398]	benign\|likely benign	4	39266129	39266129	Human	5	trait
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 spec ... (more) ified [RCV000241952]	benign\|likely benign	4	39266152	39266152	Human	4	trait
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	trait
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	trait
11641658	CV265473	single nucleotide variant	NM_024753.5(TTC21B):c.2530A>G (p.Met844Val)	Asphyxiating thoracic dystrophy 4 [RCV001134207]\|Asphyxiating thoracic dystrophy 4 [RCV002487181]\|Jeune thoracic dystrophy [RCV001859543]\|Nephronophthisis 12 [RCV001134208]\|not provided [RCV000360722]	likely benign\|uncertain significance	2	165907716	165907716	Human	4	trait
11636693	CV268118	single nucleotide variant	NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp)	Asphyxiating thoracic dystrophy 5 [RCV001855132]\|Asphyxiating thoracic dystrophy 5 [RCV005031856]\|not provided [RCV000271694]	uncertain significance	4	39231909	39231909	Human	1	trait
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 specifie ... (more) d [RCV000286180]	benign\|likely benign\|uncertain significance	4	39234873	39234873	Human	3	trait
11580464	CV283141	single nucleotide variant	NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln)	Asphyxiating thoracic dystrophy 4 [RCV000334319]\|Asphyxiating thoracic dystrophy 4 [RCV002480176]\|Inborn genetic diseases [RCV005286066]\|Jeune thoracic dystrophy [RCV001861133]\|Nephronophthisis 12 [RCV000372660]\|TTC21B-relat ... (more) ed disorder [RCV004735470]	likely benign\|uncertain significance	2	165899861	165899861	Human	5	trait
11578079	CV283162	single nucleotide variant	NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala)	Asphyxiating thoracic dystrophy 4 [RCV000273798]\|Asphyxiating thoracic dystrophy 4 [RCV002480178]\|Jeune thoracic dystrophy [RCV001850782]\|Nephronophthisis 12 [RCV000368451]\|TTC21B-related disorder [RCV004735474]	uncertain significance	2	165953692	165953692	Human	4	trait
11580354	CV284715	single nucleotide variant	NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn)	Asphyxiating thoracic dystrophy 4 [RCV000330744]\|Asphyxiating thoracic dystrophy 4 [RCV005025469]\|Jeune thoracic dystrophy [RCV000465241]\|Nephronophthisis 12 [RCV000277941]\|TTC21B-related disorder [RCV004735469]	likely benign\|uncertain significance	2	165898741	165898741	Human	4	trait
11579959	CV284726	single nucleotide variant	NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile)	Asphyxiating thoracic dystrophy 4 [RCV000318231]\|Asphyxiating thoracic dystrophy 4 [RCV005398457]\|Inborn genetic diseases [RCV002521311]\|Jeune thoracic dystrophy [RCV000634198]\|Nephronophthisis 12 [RCV000263172]\|TTC21B-relat ... (more) ed disorder [RCV004537839]\|not provided [RCV000756833]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	165912609	165912609	Human	5	trait
11579858	CV284731	single nucleotide variant	NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln)	Asphyxiating thoracic dystrophy 4 [RCV000314823]\|Asphyxiating thoracic dystrophy 4 [RCV002480177]\|Nephronophthisis 12 [RCV000369402]\|TTC21B-related disorder [RCV004735471]	uncertain significance	2	165917424	165917424	Human	2	trait
11579598	CV284755	single nucleotide variant	NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys)	Asphyxiating thoracic dystrophy 4 [RCV000307880]\|Asphyxiating thoracic dystrophy 4 [RCV005398458]\|Jeune thoracic dystrophy [RCV001861134]\|Nephronophthisis 12 [RCV000362630]\|TTC21B-related disorder [RCV004537843]\|not provided ... (more) [RCV003137930]	uncertain significance	2	165949708	165949708	Human	4	trait
11581856	CV285187	single nucleotide variant	NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg)	Asphyxiating thoracic dystrophy 4 [RCV000387321]\|Asphyxiating thoracic dystrophy 4 [RCV002488703]\|Jeune thoracic dystrophy [RCV001850780]\|Nephronophthisis 12 [RCV000328279]\|TTC21B-related disorder [RCV004735472]	uncertain significance	2	165924587	165924587	Human	4	trait
11581216	CV285191	single nucleotide variant	NM_024753.5(TTC21B):c.795+3A>G	Asphyxiating thoracic dystrophy 4 [RCV000360819]\|Asphyxiating thoracic dystrophy 4 [RCV002504118]\|Jeune thoracic dystrophy [RCV001326971]\|Nephronophthisis 12 [RCV000270836]\|TTC21B-related disorder [RCV004537841]	likely benign\|uncertain significance	2	165932970	165932970	Human	4	trait
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	trait
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	trait
11645437	CV293401	single nucleotide variant	NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)	Asphyxiating thoracic dystrophy 5 [RCV000265585]\|Asphyxiating thoracic dystrophy 5 [RCV002488768]\|Cranioectodermal dysplasia 4 [RCV000358029]	uncertain significance	4	39244255	39244255	Human	2	trait
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	trait
11656440	CV293403	single nucleotide variant	NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)	Asphyxiating thoracic dystrophy 5 [RCV000385898]\|Asphyxiating thoracic dystrophy 5 [RCV002487534]\|Cranioectodermal dysplasia 4 [RCV000333705]	uncertain significance	4	39270056	39270056	Human	2	trait
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	trait
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	trait
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	trait
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-re ... (more) lated disorder [RCV004544651]	benign\|likely benign\|uncertain significance	4	39224999	39224999	Human	4	trait
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	trait
11653456	CV294795	single nucleotide variant	NM_025132.4(WDR19):c.2218T>C (p.Tyr740His)	Asphyxiating thoracic dystrophy 5 [RCV000311239]\|Asphyxiating thoracic dystrophy 5 [RCV001366163]\|Cranioectodermal dysplasia 4 [RCV000402053]	uncertain significance	4	39232237	39232237	Human	2	trait
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 specifie ... (more) d [RCV001699383]	benign\|likely benign\|uncertain significance	4	39266128	39266128	Human	3	trait
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	trait
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	trait
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	trait
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]\|Senio ... (more) r-Loken syndrome 8 [RCV002244832]\|not provided [RCV003114505]	benign\|likely benign\|uncertain significance	4	39257563	39257563	Human	5	trait
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-Lok ... (more) en syndrome 8 [RCV002244836]\|WDR19-related disorder [RCV004544652]\|not provided [RCV003221952]	benign\|likely benign\|uncertain significance	4	39277025	39277025	Human	5	trait
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	trait
11590384	CV298424	single nucleotide variant	NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe)	Asphyxiating thoracic dystrophy 5 [RCV000318476]\|Asphyxiating thoracic dystrophy 5 [RCV001850850]\|Cranioectodermal dysplasia 4 [RCV000375381]	uncertain significance	4	39253198	39253198	Human	2	trait
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	trait
11649404	CV298433	single nucleotide variant	NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile)	Asphyxiating thoracic dystrophy 5 [RCV000287322]\|Asphyxiating thoracic dystrophy 5 [RCV002520241]\|Cranioectodermal dysplasia 4 [RCV000339966]	uncertain significance	4	39277078	39277078	Human	2	trait
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	trait
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 [RCV ... (more) 003324499]\|Senior-Loken syndrome 8 [RCV000169775]\|WDR19-related disorder [RCV004532400]\|not provided [RCV001356848]	pathogenic\|likely pathogenic\|not provided	4	39231943	39231943	Human	5	trait
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 [R ... (more) CV001821402]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	4	39244515	39244515	Human	3	trait
13437059	CV434039	single nucleotide variant	NM_025132.4(WDR19):c.3308G>A (p.Arg1103Gln)	Asphyxiating thoracic dystrophy 5 [RCV001227801]\|Asphyxiating thoracic dystrophy 5 [RCV002481645]\|Inborn genetic diseases [RCV004965520]\|not provided [RCV001811019]	likely benign\|uncertain significance	4	39268041	39268041	Human	2	trait
13445836	CV438273	single nucleotide variant	NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001865682]\|Asphyxiating thoracic dystrophy 5 [RCV005034054]\|not provided [RCV000512921]	uncertain significance	4	39273061	39273061	Human	1	trait
13467342	CV440058	deletion	NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	Asphyxiating thoracic dystrophy 4 [RCV002496988]\|Asphyxiating thoracic dystrophy 4 [RCV004787820]\|Jeune thoracic dystrophy [RCV001851419]\|Retinal dystrophy [RCV001074968]\|Type IV short rib polydactyly syndrome [RCV000516032]	pathogenic\|likely pathogenic	2	165929201	165929201	Human	6	trait
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	trait
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	trait
13474090	CV453405	single nucleotide variant	NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)	Asphyxiating thoracic dystrophy 5 [RCV000525665]\|Asphyxiating thoracic dystrophy 5 [RCV001149092]\|Cranioectodermal dysplasia 4 [RCV001149093]\|Nephronophthisis 13 [RCV002245014]\|Senior-Loken syndrome 8 [RCV002245015]\|not prov ... (more) ided [RCV001811070]	benign	4	39231910	39231910	Human	4	trait
14393028	CV549471	single nucleotide variant	NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)	Asphyxiating thoracic dystrophy 5 [RCV002499193]\|Asphyxiating thoracic dystrophy 5 [RCV003106018]\|Cranioectodermal dysplasia [RCV000754959]	pathogenic\|likely pathogenic	4	39225027	39225027	Human	2	trait
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	trait
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	trait
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	trait
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	trait
14716552	CV628800	single nucleotide variant	NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser)	Asphyxiating thoracic dystrophy 4 [RCV001135929]\|Asphyxiating thoracic dystrophy 4 [RCV002487713]\|Jeune thoracic dystrophy [RCV000804050]\|Nephronophthisis 12 [RCV001135928]\|TTC21B-related disorder [RCV004735811]\|not provided ... (more) [RCV003128708]	likely benign\|uncertain significance	2	165931772	165931772	Human	4	trait
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	trait
15143666	CV685891	single nucleotide variant	NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr)	Asphyxiating thoracic dystrophy 4 [RCV001134206]\|Asphyxiating thoracic dystrophy 4 [RCV005021268]\|Jeune thoracic dystrophy [RCV000865774]\|Nephronophthisis 12 [RCV001134205]\|Nephrotic syndrome [RCV001849461]	likely pathogenic\|likely benign\|uncertain significance	2	165901910	165901910	Human	6	trait
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	trait
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	trait
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	trait
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	trait
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	trait
15134015	CV781951	single nucleotide variant	NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)	Asphyxiating thoracic dystrophy 5 [RCV000981651]\|Asphyxiating thoracic dystrophy 5 [RCV001146290]\|Cranioectodermal dysplasia 4 [RCV001146291]	likely benign\|uncertain significance	4	39228355	39228355	Human	2	trait
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	trait
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	trait
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	trait
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	trait
28879569	CV881332	single nucleotide variant	NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn)	Asphyxiating thoracic dystrophy 4 [RCV001135584]\|Asphyxiating thoracic dystrophy 4 [RCV002505708]\|Jeune thoracic dystrophy [RCV001856729]\|Nephronophthisis 12 [RCV001135583]	likely benign\|uncertain significance	2	165890936	165890936	Human	4	trait
28880167	CV881337	single nucleotide variant	NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly)	Asphyxiating thoracic dystrophy 4 [RCV001135804]\|Asphyxiating thoracic dystrophy 4 [RCV002491405]\|Jeune thoracic dystrophy [RCV001856733]\|Nephronophthisis 12 [RCV001135805]	uncertain significance	2	165917474	165917474	Human	4	trait
28909552	CV881338	single nucleotide variant	NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe)	Asphyxiating thoracic dystrophy 4 [RCV001128821]\|Asphyxiating thoracic dystrophy 4 [RCV005029702]\|Jeune thoracic dystrophy [RCV001873517]\|Nephronophthisis 12 [RCV001128820]\|TTC21B-related disorder [RCV004734023]\|not provided ... (more) [RCV005253724]	likely benign\|uncertain significance	2	165919313	165919313	Human	4	trait
28880723	CV881345	single nucleotide variant	NM_024753.5(TTC21B):c.338A>G (p.His113Arg)	Asphyxiating thoracic dystrophy 4 [RCV001136012]\|Asphyxiating thoracic dystrophy 4 [RCV002505709]\|Jeune thoracic dystrophy [RCV001856735]\|Nephronophthisis 12 [RCV001136013]\|TTC21B-related disorder [RCV004538356]	likely benign\|uncertain significance	2	165945615	165945615	Human	4	trait
28880728	CV881346	single nucleotide variant	NM_024753.5(TTC21B):c.256A>C (p.Asn86His)	Asphyxiating thoracic dystrophy 4 [RCV001136015]\|Asphyxiating thoracic dystrophy 4 [RCV005021476]\|Jeune thoracic dystrophy [RCV001856736]\|Nephronophthisis 12 [RCV001136014]	likely benign\|uncertain significance	2	165949400	165949400	Human	4	trait
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	trait
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	trait
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	trait
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	trait
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	trait
28885006	CV890647	single nucleotide variant	NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser)	Asphyxiating thoracic dystrophy 5 [RCV001150721]\|Asphyxiating thoracic dystrophy 5 [RCV002557250]\|Cranioectodermal dysplasia 4 [RCV001150722]	uncertain significance	4	39255914	39255914	Human	2	trait
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	trait
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	trait
38480087	CV932324	single nucleotide variant	NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)	Asphyxiating thoracic dystrophy 5 [RCV001206243]\|Asphyxiating thoracic dystrophy 5 [RCV002480675]\|Connective tissue disorder [RCV002276660]	uncertain significance	4	39269985	39269985	Human	2	trait
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	trait
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	trait
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	trait
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	trait
38467647	CV943992	single nucleotide variant	NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met)	Asphyxiating thoracic dystrophy 5 [RCV001230464]\|Asphyxiating thoracic dystrophy 5 [RCV002484256]\|not provided [RCV004695234]	uncertain significance	4	39277052	39277052	Human	1	trait
38493601	CV953774	single nucleotide variant	NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn)	Asphyxiating thoracic dystrophy 5 [RCV001240775]\|Asphyxiating thoracic dystrophy 5 [RCV002491799]\|Inborn genetic diseases [RCV002568534]	uncertain significance	4	39272998	39272998	Human	2	trait
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	trait
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	trait
8600508	CV32365	single nucleotide variant	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	Abnormality of the skeletal system [RCV001813997]\|Hypertelorism [RCV000626590]\|Osteogenesis imperfecta, perinatal lethal [RCV000018867]\|not provided [RCV001596936]	pathogenic\|likely pathogenic	17	50193038	50193038	Human	35	alternate_id
126725717	CV1017373	single nucleotide variant	NM_001377.3(DYNC2H1):c.10813-2A>G	Short-rib thoracic dysplasia 3 with or without polydactyly [RCV001331562]	pathogenic	11	103283006	103283006	Human		alternate_id
126731420	CV1020793	deletion	NM_001377.3(DYNC2H1):c.12635del (p.Lys4212fs)	Short-rib thoracic dysplasia 3 with or without polydactyly [RCV001333714]	pathogenic	11	103456341	103456341	Human		alternate_id
11558340	CV260921	microsatellite	NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])	IFT140-related disorder [RCV004752816]\|Inborn genetic diseases [RCV004021042]\|Orofacial-digital syndrome III [RCV000256471]\|Retinal dystrophy [RCV004816468]\|Saldino-Mainzer syndrome [RCV000386105]\|not provided [RCV001795477]\|not specified [RCV005238812]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	1519961	1519966	Human		alternate_id
402477812	CV3170177	single nucleotide variant	NM_001173990.3(TMEM216):c.35-18T>A	Joubert syndrome [RCV003875565]	likely pathogenic\|likely benign	11	61393213	61393213	Human	1	alternate_id
617150567	CV4017704	indel	NM_001035.3(RYR2):c.1006-44_1007delinsATTTTG	Catecholaminergic polymorphic ventricular tachycardia 1 [RCV005417369]	pathogenic\|likely pathogenic	1	237441275	237441320	Human		alternate_id
12913283	CV414709	single nucleotide variant	NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	Inborn genetic diseases [RCV002527019]\|Mitochondrial disease [RCV000508838]\|POLG-related disorder [RCV004732901]\|Progressive sclerosing poliodystrophy [RCV000814983]\|Progressive sclerosing poliodystrophy [RCV005010403]\|not provided [RCV000493626]	pathogenic\|likely pathogenic	15	89317469	89317469	Human	9	alternate_id
155995368	CV2278071	single nucleotide variant	NM_181718.4(ASPHD1):c.20G>A (p.Ser7Asn)	not specified [RCV004141294]	uncertain significance	16	29900991	29900991	Human		name
156150953	CV2369113	single nucleotide variant	NM_181718.4(ASPHD1):c.26G>T (p.Ser9Ile)	not specified [RCV004208040]	uncertain significance	16	29900997	29900997	Human		name
156203392	CV2400421	single nucleotide variant	NM_020437.5(ASPHD2):c.26C>T (p.Pro9Leu)	not specified [RCV004244469]	uncertain significance	22	26433641	26433641	Human		name
405677173	CV3283203	single nucleotide variant	NM_181718.4(ASPHD1):c.64C>G (p.Gln22Glu)	not specified [RCV004420864]	uncertain significance	16	29901035	29901035	Human		name
156116044	CV2221613	single nucleotide variant	NM_181718.4(ASPHD1):c.105G>C (p.Gln35His)	not specified [RCV004096867]	uncertain significance	16	29901076	29901076	Human		name
156354868	CV2324368	single nucleotide variant	NM_020437.5(ASPHD2):c.157G>A (p.Val53Met)	not specified [RCV004178868]	uncertain significance	22	26433772	26433772	Human		name
155925713	CV2348483	single nucleotide variant	NM_020437.5(ASPHD2):c.250C>T (p.Arg84Trp)	not specified [RCV004193670]	uncertain significance	22	26433865	26433865	Human		name
156084492	CV2366058	single nucleotide variant	NM_020437.5(ASPHD2):c.265G>A (p.Val89Ile)	not specified [RCV004210102]	uncertain significance	22	26433880	26433880	Human		name
405677187	CV3283206	single nucleotide variant	NM_020437.5(ASPHD2):c.109T>C (p.Trp37Arg)	not specified [RCV004420867]	uncertain significance	22	26433724	26433724	Human		name
407501646	CV3480696	single nucleotide variant	NM_020437.5(ASPHD2):c.105G>C (p.Trp35Cys)	not specified [RCV004669808]	uncertain significance	22	26433720	26433720	Human		name
597735153	CV3594552	single nucleotide variant	NM_181718.4(ASPHD1):c.109G>C (p.Ala37Pro)	not specified [RCV004863613]	uncertain significance	16	29901080	29901080	Human		name
597735510	CV3594626	single nucleotide variant	NM_020437.5(ASPHD2):c.140C>T (p.Ala47Val)	not specified [RCV004863671]	uncertain significance	22	26433755	26433755	Human		name
598207235	CV3906101	single nucleotide variant	NM_181718.4(ASPHD1):c.226G>A (p.Ala76Thr)	not specified [RCV005270011]	uncertain significance	16	29901197	29901197	Human		name
598207256	CV3906104	single nucleotide variant	NM_181718.4(ASPHD1):c.227C>A (p.Ala76Asp)	not specified [RCV005270014]	uncertain significance	16	29901198	29901198	Human		name
598207359	CV3906121	single nucleotide variant	NM_020437.5(ASPHD2):c.269A>G (p.Asn90Ser)	not specified [RCV005270031]	uncertain significance	22	26433884	26433884	Human		name
598219638	CV3906127	single nucleotide variant	NM_020437.5(ASPHD2):c.296A>G (p.Asn99Ser)	not specified [RCV005272110]	uncertain significance	22	26433911	26433911	Human		name
598217884	CV3906156	single nucleotide variant	NM_020437.5(ASPHD2):c.226T>C (p.Tyr76His)	not specified [RCV005272139]	uncertain significance	22	26433841	26433841	Human		name
156267379	CV2198814	single nucleotide variant	NM_181718.4(ASPHD1):c.893G>C (p.Gly298Ala)	not specified [RCV004077856]	uncertain significance	16	29901864	29901864	Human		name
156024590	CV2273884	single nucleotide variant	NM_181718.4(ASPHD1):c.712C>T (p.Pro238Ser)	not specified [RCV004132507]	uncertain significance	16	29901683	29901683	Human		name
156032106	CV2274989	single nucleotide variant	NM_181718.4(ASPHD1):c.802T>C (p.Cys268Arg)	not specified [RCV004135034]	uncertain significance	16	29901773	29901773	Human		name
156258801	CV2322177	single nucleotide variant	NM_181718.4(ASPHD1):c.596C>G (p.Pro199Arg)	not specified [RCV004175956]	uncertain significance	16	29901567	29901567	Human		name
156179252	CV2356000	single nucleotide variant	NM_020437.5(ASPHD2):c.476G>A (p.Arg159Gln)	not specified [RCV004201376]	uncertain significance	22	26434091	26434091	Human		name
156252251	CV2390015	single nucleotide variant	NM_020437.5(ASPHD2):c.346T>G (p.Cys116Gly)	not specified [RCV004238630]	uncertain significance	22	26433961	26433961	Human		name
401730168	CV2700473	single nucleotide variant	NM_020437.5(ASPHD2):c.383A>C (p.His128Pro)	not specified [RCV004311108]	uncertain significance	22	26433998	26433998	Human		name
401782893	CV2716030	single nucleotide variant	NM_181718.4(ASPHD1):c.745T>G (p.Cys249Gly)	not specified [RCV004323285]	uncertain significance	16	29901716	29901716	Human		name
401881307	CV2763317	single nucleotide variant	NM_020437.5(ASPHD2):c.685T>G (p.Phe229Val)	not specified [RCV004336326]	likely benign	22	26434300	26434300	Human		name
401884916	CV2766336	single nucleotide variant	NM_181718.4(ASPHD1):c.470A>C (p.Tyr157Ser)	not specified [RCV004342589]	uncertain significance	16	29901441	29901441	Human		name
401898097	CV2780970	single nucleotide variant	NM_181718.4(ASPHD1):c.667G>A (p.Asp223Asn)	not specified [RCV004354503]	uncertain significance	16	29901638	29901638	Human		name
401882395	CV2781544	single nucleotide variant	NM_020437.5(ASPHD2):c.668C>A (p.Thr223Asn)	not specified [RCV004354768]	uncertain significance	22	26434283	26434283	Human		name
401864267	CV2781621	single nucleotide variant	NM_020437.5(ASPHD2):c.739T>G (p.Cys247Gly)	not specified [RCV004354825]	uncertain significance	22	26434354	26434354	Human		name
401894867	CV2781952	single nucleotide variant	NM_181718.4(ASPHD1):c.308T>C (p.Met103Thr)	not specified [RCV004357186]	uncertain significance	16	29901279	29901279	Human		name
405677168	CV3283202	single nucleotide variant	NM_181718.4(ASPHD1):c.347G>T (p.Arg116Leu)	not specified [RCV004420863]	uncertain significance	16	29901318	29901318	Human		name
405677176	CV3283204	single nucleotide variant	NM_181718.4(ASPHD1):c.707C>G (p.Pro236Arg)	not specified [RCV004420865]	uncertain significance	16	29901678	29901678	Human		name
405677181	CV3283205	single nucleotide variant	NM_181718.4(ASPHD1):c.828G>C (p.Arg276Ser)	not specified [RCV004420866]	uncertain significance	16	29901799	29901799	Human		name
405677194	CV3283208	single nucleotide variant	NM_020437.5(ASPHD2):c.335A>C (p.Glu112Ala)	not specified [RCV004420869]	uncertain significance	22	26433950	26433950	Human		name
405677199	CV3283209	single nucleotide variant	NM_020437.5(ASPHD2):c.689C>T (p.Thr230Ile)	not specified [RCV004420870]	uncertain significance	22	26434304	26434304	Human		name
405677209	CV3283211	single nucleotide variant	NM_020437.5(ASPHD2):c.740G>A (p.Cys247Tyr)	not specified [RCV004420872]	uncertain significance	22	26434355	26434355	Human		name
405677214	CV3283212	single nucleotide variant	NM_020437.5(ASPHD2):c.791A>G (p.Asn264Ser)	not specified [RCV004420873]	uncertain significance	22	26434406	26434406	Human		name
405677219	CV3283213	single nucleotide variant	NM_020437.5(ASPHD2):c.809G>A (p.Cys270Tyr)	not specified [RCV004420874]	uncertain significance	22	26434424	26434424	Human		name
405854838	CV3394954	single nucleotide variant	NM_020437.5(ASPHD2):c.457G>T (p.Gly153Cys)	not provided [RCV004555095]	uncertain significance	22	26434072	26434072	Human		name
597735069	CV3594527	single nucleotide variant	NM_181718.4(ASPHD1):c.664C>T (p.Arg222Trp)	not specified [RCV004863597]	uncertain significance	16	29901635	29901635	Human		name
597735203	CV3594561	single nucleotide variant	NM_181718.4(ASPHD1):c.365G>T (p.Cys122Phe)	not specified [RCV004863622]	uncertain significance	16	29901336	29901336	Human		name
597735228	CV3594567	single nucleotide variant	NM_181718.4(ASPHD1):c.820G>A (p.Ala274Thr)	not specified [RCV004863626]	uncertain significance	16	29901791	29901791	Human		name
597735306	CV3594582	single nucleotide variant	NM_181718.4(ASPHD1):c.380G>A (p.Gly127Glu)	not specified [RCV004863639]	uncertain significance	16	29901351	29901351	Human		name
597735312	CV3594592	single nucleotide variant	NM_181718.4(ASPHD1):c.743G>C (p.Gly248Ala)	not specified [RCV004863640]	uncertain significance	16	29901714	29901714	Human		name
597735344	CV3594600	single nucleotide variant	NM_181718.4(ASPHD1):c.370G>C (p.Glu124Gln)	not specified [RCV004863645]	uncertain significance	16	29901341	29901341	Human		name
597735465	CV3594619	single nucleotide variant	NM_020437.5(ASPHD2):c.978C>G (p.Phe326Leu)	not specified [RCV004863664]	uncertain significance	22	26442550	26442550	Human		name
598207019	CV3906060	single nucleotide variant	NM_181718.4(ASPHD1):c.612C>A (p.Asp204Glu)	not specified [RCV005269970]	uncertain significance	16	29901583	29901583	Human		name
598207061	CV3906070	single nucleotide variant	NM_181718.4(ASPHD1):c.898C>T (p.Arg300Trp)	not specified [RCV005269980]	uncertain significance	16	29901869	29901869	Human		name
598207309	CV3906113	single nucleotide variant	NM_181718.4(ASPHD1):c.945T>A (p.His315Gln)	not specified [RCV005270023]	uncertain significance	16	29901916	29901916	Human		name
598219534	CV3906145	single nucleotide variant	NM_020437.5(ASPHD2):c.922G>C (p.Gly308Arg)	not specified [RCV005272128]	uncertain significance	22	26442494	26442494	Human		name
156075503	CV2230146	single nucleotide variant	NM_181718.4(ASPHD1):c.1167C>A (p.Asp389Glu)	not specified [RCV004099790]	uncertain significance	16	29905891	29905891	Human		name
156350093	CV2316140	single nucleotide variant	NM_181718.4(ASPHD1):c.1135C>T (p.Arg379Cys)	not specified [RCV004174191]	uncertain significance	16	29905859	29905859	Human		name
155927214	CV2345365	single nucleotide variant	NM_020437.5(ASPHD2):c.1009G>C (p.Glu337Gln)	not specified [RCV004198143]	uncertain significance	22	26443105	26443105	Human		name
156002608	CV2347706	single nucleotide variant	NM_020437.5(ASPHD2):c.1019C>T (p.Pro340Leu)	not specified [RCV004200632]	uncertain significance	22	26443115	26443115	Human		name
156036004	CV2373953	single nucleotide variant	NM_020437.5(ASPHD2):c.1022G>A (p.Arg341Gln)	not specified [RCV004227087]	uncertain significance	22	26443118	26443118	Human		name
329401814	CV2457456	single nucleotide variant	NM_181718.4(ASPHD1):c.1098C>G (p.Ile366Met)	not specified [RCV004267278]	uncertain significance	16	29905822	29905822	Human		name
401858781	CV2770714	single nucleotide variant	NM_020437.5(ASPHD2):c.1021C>T (p.Arg341Trp)	not specified [RCV004349758]	uncertain significance	22	26443117	26443117	Human		name
405677159	CV3283200	single nucleotide variant	NM_181718.4(ASPHD1):c.1072G>A (p.Glu358Lys)	not specified [RCV004420861]	uncertain significance	16	29905796	29905796	Human		name
405677164	CV3283201	single nucleotide variant	NM_181718.4(ASPHD1):c.1079G>A (p.Gly360Glu)	not specified [RCV004420862]	uncertain significance	16	29905803	29905803	Human		name
597735276	CV3594575	single nucleotide variant	NM_181718.4(ASPHD1):c.1033G>A (p.Asp345Asn)	not specified [RCV004863634]	uncertain significance	16	29904935	29904935	Human		name
598207107	CV3906079	single nucleotide variant	NM_181718.4(ASPHD1):c.1151T>C (p.Phe384Ser)	not specified [RCV005269989]	uncertain significance	16	29905875	29905875	Human		name
598207165	CV3906090	single nucleotide variant	NM_181718.4(ASPHD1):c.1002C>G (p.Cys334Trp)	not specified [RCV005270000]	uncertain significance	16	29904904	29904904	Human		name
598219604	CV3906133	single nucleotide variant	NM_020437.5(ASPHD2):c.1081C>G (p.Leu361Val)	not specified [RCV005272116]	uncertain significance	22	26443177	26443177	Human		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	trait
126750776	CV1005259	single nucleotide variant	NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp)	Asphyxiating thoracic dystrophy 5 [RCV001315983]	uncertain significance	4	39228259	39228259	Human	1	trait
126769465	CV1005265	single nucleotide variant	NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001321978]	uncertain significance	4	39257522	39257522	Human	1	trait
126771072	CV1005267	single nucleotide variant	NM_025132.4(WDR19):c.3508A>G (p.Met1170Val)	Asphyxiating thoracic dystrophy 5 [RCV001322947]	uncertain significance	4	39273004	39273004	Human	1	trait
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	trait
126769706	CV1005269	single nucleotide variant	NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu)	Asphyxiating thoracic dystrophy 5 [RCV001322129]	uncertain significance	4	39278567	39278567	Human	1	trait
126740441	CV1005270	single nucleotide variant	NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys)	Asphyxiating thoracic dystrophy 5 [RCV001325200]	uncertain significance	4	39278625	39278625	Human	1	trait
126728239	CV1017367	single nucleotide variant	NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val)	Asphyxiating thoracic dystrophy 3 [RCV001332763]	uncertain significance	11	103109635	103109635	Human	1	trait
126728232	CV1017370	single nucleotide variant	NM_001377.3(DYNC2H1):c.4231T>C (p.Cys1411Arg)	Asphyxiating thoracic dystrophy 3 [RCV001332759]	uncertain significance	11	103158780	103158780	Human	1	trait
126736400	CV1019773	deletion	NM_020800.3(IFT80):c.890_891del (p.His297fs)	Asphyxiating thoracic dystrophy 2 [RCV001335074]	pathogenic	3	160319826	160319827	Human		trait
126773964	CV1022247	deletion	NC_000004.11:g.(?_39245868)_(39259174_?)del	Asphyxiating thoracic dystrophy 5 [RCV001346675]	uncertain significance				Human	1	trait
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	trait
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	trait
126734071	CV1025855	single nucleotide variant	NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001349881]	uncertain significance	4	39228635	39228635	Human	1	trait
126737163	CV1025856	single nucleotide variant	NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr)	Asphyxiating thoracic dystrophy 5 [RCV001350317]	uncertain significance	4	39234844	39234844	Human	1	trait
126756533	CV1025857	single nucleotide variant	NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala)	Asphyxiating thoracic dystrophy 5 [RCV001339304]	uncertain significance	4	39245406	39245406	Human	1	trait
126772586	CV1025858	single nucleotide variant	NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln)	Asphyxiating thoracic dystrophy 5 [RCV001345701]	uncertain significance	4	39255959	39255959	Human	1	trait
126915856	CV1042754	single nucleotide variant	NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile)	Asphyxiating thoracic dystrophy 5 [RCV001371162]	uncertain significance	4	39215991	39215991	Human	1	trait
126913947	CV1042755	microsatellite	NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del)	Asphyxiating thoracic dystrophy 5 [RCV001359361]	uncertain significance	4	39218008	39218010	Human		trait
126922583	CV1042756	single nucleotide variant	NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr)	Asphyxiating thoracic dystrophy 5 [RCV001364842]	uncertain significance	4	39218092	39218092	Human	1	trait
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	trait
126918214	CV1042758	single nucleotide variant	NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg)	Asphyxiating thoracic dystrophy 5 [RCV001372528]	uncertain significance	4	39224897	39224897	Human	1	trait
126922720	CV1042762	single nucleotide variant	NM_025132.4(WDR19):c.2192A>G (p.Asn731Ser)	Asphyxiating thoracic dystrophy 5 [RCV001364997]	uncertain significance	4	39232211	39232211	Human	1	trait
126915583	CV1042763	single nucleotide variant	NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001360075]	uncertain significance	4	39244254	39244254	Human	1	trait
126923661	CV1042765	single nucleotide variant	NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu)	Asphyxiating thoracic dystrophy 5 [RCV001366100]	uncertain significance	4	39254019	39254019	Human	1	trait
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	trait
126913309	CV1042770	single nucleotide variant	NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val)	Asphyxiating thoracic dystrophy 5 [RCV001359126]	uncertain significance	4	39268044	39268044	Human	1	trait
126914442	CV1042771	single nucleotide variant	NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val)	Asphyxiating thoracic dystrophy 5 [RCV001370475]	uncertain significance	4	39269991	39269991	Human	1	trait
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	trait
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	trait
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	trait
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	trait
127253948	CV1060027	deletion	NM_025132.4(WDR19):c.1911_1914del (p.Phe637fs)	Asphyxiating thoracic dystrophy 5 [RCV001386038]	pathogenic	4	39228619	39228622	Human	1	trait
127259724	CV1060028	deletion	NM_025132.4(WDR19):c.2351_2361del (p.Gln784fs)	Asphyxiating thoracic dystrophy 5 [RCV001380200]	pathogenic	4	39234859	39234869	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
127317253	CV1135725	indel	NM_025132.4(WDR19):c.1983-8_1983-7delinsAT	Asphyxiating thoracic dystrophy 5 [RCV001483107]	likely benign	4	39231789	39231790	Human		trait
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	trait
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	trait
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	trait
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	trait
127291261	CV1154784	single nucleotide variant	NM_025132.4(WDR19):c.1135-18C>G	Asphyxiating thoracic dystrophy 5 [RCV001510277]	benign	4	39216078	39216078	Human	1	trait
127299219	CV1154786	deletion	NM_025132.4(WDR19):c.2730-5del	Asphyxiating thoracic dystrophy 5 [RCV001513585]	benign	4	39253135	39253135	Human	1	trait
150338008	CV1166707	single nucleotide variant	NM_001377.3(DYNC2H1):c.126C>A (p.Phe42Leu)	Asphyxiating thoracic dystrophy 3 [RCV001533180]	uncertain significance	11	103109700	103109700	Human	1	trait
150330763	CV1168605	single nucleotide variant	NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter)	Asphyxiating thoracic dystrophy 4 [RCV001536086]	likely pathogenic	2	165888398	165888398	Human	1	trait
150330559	CV1168607	deletion	NM_024753.5(TTC21B):c.3087del (p.Gly1030fs)	Asphyxiating thoracic dystrophy 4 [RCV001535855]	pathogenic	2	165890852	165890852	Human	1	trait
151662642	CV1200117	single nucleotide variant	NM_001377.3(DYNC2H1):c.11483T>G (p.Ile3828Arg)	Asphyxiating thoracic dystrophy 3 [RCV001837545]	uncertain significance	11	103307821	103307821	Human	1	trait
151662643	CV1200118	single nucleotide variant	NM_001377.3(DYNC2H1):c.2106+3A>T	Asphyxiating thoracic dystrophy 3 [RCV001837546]	uncertain significance	11	103133710	103133710	Human	1	trait
150451411	CV1207203	single nucleotide variant	NM_194313.4(KIF24):c.1565A>G (p.Asn522Ser)	Asphyxiating thoracic dystrophy 3 [RCV001581093]	pathogenic	9	34259656	34259656	Human	1	trait
151727573	CV1241967	single nucleotide variant	NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)	Asphyxiating thoracic dystrophy 3 [RCV001844335]	pathogenic	11	103154479	103154479	Human	1	trait
150529651	CV1289210	single nucleotide variant	NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter)	Asphyxiating thoracic dystrophy 3 [RCV001728050]	likely pathogenic	11	103223046	103223046	Human	1	trait
150544034	CV1313089	single nucleotide variant	NM_001377.3(DYNC2H1):c.11017C>T (p.Gln3673Ter)	Asphyxiating thoracic dystrophy 3 [RCV001783167]	pathogenic	11	103286381	103286381	Human		trait
150544036	CV1313090	single nucleotide variant	NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter)	Asphyxiating thoracic dystrophy 3 [RCV001783168]	pathogenic	11	103156736	103156736	Human	1	trait
150540455	CV1314580	single nucleotide variant	NM_001377.3(DYNC2H1):c.12619C>T (p.Arg4207Ter)	Asphyxiating thoracic dystrophy 3 [RCV001781013]	likely pathogenic	11	103456327	103456327	Human		trait
151234927	CV1320630	single nucleotide variant	NM_001377.3(DYNC2H1):c.1856A>G (p.Gln619Arg)	Asphyxiating thoracic dystrophy 3 [RCV001800254]	uncertain significance	11	103125294	103125294	Human	1	trait
151349829	CV1321060	single nucleotide variant	NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro)	Asphyxiating thoracic dystrophy 3 [RCV001803472]	uncertain significance	11	103220726	103220726	Human	1	trait
151351345	CV1323437	single nucleotide variant	NM_001377.3(DYNC2H1):c.12238C>T (p.Gln4080Ter)	Asphyxiating thoracic dystrophy 3 [RCV001806293]	pathogenic	11	103399744	103399744	Human	1	trait
151793111	CV1341568	single nucleotide variant	NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu)	Asphyxiating thoracic dystrophy 5 [RCV001866431]	uncertain significance	4	39228342	39228342	Human	1	trait
151782845	CV1342054	single nucleotide variant	NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr)	Asphyxiating thoracic dystrophy 5 [RCV001897404]	uncertain significance	4	39278137	39278137	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
151884825	CV1366935	deletion	NC_000004.11:g.(?_39184178)_(39184203_?)del	Asphyxiating thoracic dystrophy 5 [RCV001941814]	pathogenic				Human	1	trait
151874772	CV1369528	single nucleotide variant	NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn)	Asphyxiating thoracic dystrophy 5 [RCV002036121]	uncertain significance	4	39273009	39273009	Human	1	trait
151762189	CV1369620	deletion	NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs)	Asphyxiating thoracic dystrophy 5 [RCV001928655]	uncertain significance	4	39278625	39278632	Human	1	trait
151855546	CV1372897	single nucleotide variant	NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met)	Asphyxiating thoracic dystrophy 5 [RCV001996491]	uncertain significance	4	39277137	39277137	Human	1	trait
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	trait
151719864	CV1373880	single nucleotide variant	NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys)	Asphyxiating thoracic dystrophy 5 [RCV001890920]	uncertain significance	4	39257527	39257527	Human	1	trait
151798251	CV1376606	single nucleotide variant	NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys)	Asphyxiating thoracic dystrophy 5 [RCV001932061]	uncertain significance	4	39278587	39278587	Human	1	trait
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	trait
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	trait
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	trait
151715574	CV1385494	single nucleotide variant	NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp)	Asphyxiating thoracic dystrophy 5 [RCV002002865]	uncertain significance	4	39272987	39272987	Human	1	trait
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	trait
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	trait
151789360	CV1388962	single nucleotide variant	NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu)	Asphyxiating thoracic dystrophy 5 [RCV002010538]	uncertain significance	4	39228524	39228524	Human	1	trait
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	trait
151739479	CV1390213	single nucleotide variant	NM_025132.4(WDR19):c.2302C>A (p.His768Asn)	Asphyxiating thoracic dystrophy 5 [RCV001893126]	uncertain significance	4	39234814	39234814	Human	1	trait
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	trait
151787390	CV1393611	deletion	NC_000004.11:g.(?_39257448)_(39257600_?)del	Asphyxiating thoracic dystrophy 5 [RCV001972691]	pathogenic				Human	1	trait
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	trait
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	trait
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	trait
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	trait
151746011	CV1401159	single nucleotide variant	NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu)	Asphyxiating thoracic dystrophy 5 [RCV002022825]	uncertain significance	4	39278614	39278614	Human	1	trait
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	trait
151882250	CV1402571	single nucleotide variant	NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg)	Asphyxiating thoracic dystrophy 5 [RCV001961881]	uncertain significance	4	39274878	39274878	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
151766724	CV1410253	duplication	NM_025132.4(WDR19):c.632dup (p.Leu211fs)	Asphyxiating thoracic dystrophy 5 [RCV001987849]	pathogenic	4	39205179	39205180	Human	1	trait
151822214	CV1412613	single nucleotide variant	NM_025132.4(WDR19):c.3668G>A (p.Arg1223His)	Asphyxiating thoracic dystrophy 5 [RCV001919686]	uncertain significance	4	39274910	39274910	Human	1	trait
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	trait
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	trait
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	trait
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	trait
151808441	CV1417879	single nucleotide variant	NM_025132.4(WDR19):c.2648C>T (p.Ala883Val)	Asphyxiating thoracic dystrophy 5 [RCV001867770]	uncertain significance	4	39245371	39245371	Human	1	trait
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	trait
151862804	CV1420329	single nucleotide variant	NM_025132.4(WDR19):c.3964A>C (p.Asn1322His)	Asphyxiating thoracic dystrophy 5 [RCV001980344]	uncertain significance	4	39278585	39278585	Human	1	trait
151795756	CV1421348	single nucleotide variant	NM_025132.4(WDR19):c.2684C>A (p.Pro895His)	Asphyxiating thoracic dystrophy 5 [RCV001917242]	uncertain significance	4	39245407	39245407	Human	1	trait
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	trait
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	trait
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	trait
151830711	CV1426490	single nucleotide variant	NM_025132.4(WDR19):c.3188G>T (p.Gly1063Val)	Asphyxiating thoracic dystrophy 5 [RCV001976623]	uncertain significance	4	39266067	39266067	Human	1	trait
151746014	CV1428241	single nucleotide variant	NM_025132.4(WDR19):c.3633C>G (p.Phe1211Leu)	Asphyxiating thoracic dystrophy 5 [RCV001926969]	uncertain significance	4	39274875	39274875	Human	1	trait
151884886	CV1428970	single nucleotide variant	NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile)	Asphyxiating thoracic dystrophy 5 [RCV002000368]	uncertain significance	4	39278547	39278547	Human	1	trait
151885740	CV1432202	insertion	NM_025132.4(WDR19):c.149_150insGT (p.Glu50_Ile51insTer)	Asphyxiating thoracic dystrophy 5 [RCV002037822]	pathogenic	4	39186589	39186590	Human		trait
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	trait
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	trait
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	trait
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	trait
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	trait
151818337	CV1446075	single nucleotide variant	NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg)	Asphyxiating thoracic dystrophy 5 [RCV001975481]	uncertain significance	4	39270012	39270012	Human	1	trait
151781569	CV1446384	single nucleotide variant	NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr)	Asphyxiating thoracic dystrophy 5 [RCV001989182]	uncertain significance	4	39274882	39274882	Human	1	trait
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	trait
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	trait
151739936	CV1451578	single nucleotide variant	NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr)	Asphyxiating thoracic dystrophy 5 [RCV002022224]	uncertain significance	4	39268088	39268088	Human	1	trait
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	trait
151849016	CV1453070	single nucleotide variant	NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys)	Asphyxiating thoracic dystrophy 5 [RCV002032914]	uncertain significance	4	39255914	39255914	Human	1	trait
151753793	CV1453760	duplication	NM_025132.4(WDR19):c.2481dup (p.Arg828fs)	Asphyxiating thoracic dystrophy 5 [RCV001913249]	pathogenic	4	39244306	39244307	Human	1	trait
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	trait
151805181	CV1457062	single nucleotide variant	NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln)	Asphyxiating thoracic dystrophy 5 [RCV001877734]	uncertain significance	4	39231888	39231888	Human	1	trait
151750789	CV1457254	single nucleotide variant	NM_025132.4(WDR19):c.1810G>T (p.Val604Phe)	Asphyxiating thoracic dystrophy 5 [RCV001912963]	uncertain significance	4	39228518	39228518	Human	1	trait
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	trait
151891395	CV1461145	single nucleotide variant	NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly)	Asphyxiating thoracic dystrophy 5 [RCV001943356]	uncertain significance	4	39270083	39270083	Human	1	trait
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	trait
151803447	CV1462648	single nucleotide variant	NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly)	Asphyxiating thoracic dystrophy 5 [RCV002028313]	uncertain significance	4	39270008	39270008	Human	1	trait
151840797	CV1463012	single nucleotide variant	NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro)	Asphyxiating thoracic dystrophy 5 [RCV002031794]	uncertain significance	4	39266115	39266115	Human	1	trait
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	trait
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	trait
151889020	CV1468546	single nucleotide variant	NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu)	Asphyxiating thoracic dystrophy 5 [RCV002001206]	uncertain significance	4	39255956	39255956	Human	1	trait
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	trait
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	trait
151744306	CV1473120	single nucleotide variant	NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr)	Asphyxiating thoracic dystrophy 5 [RCV001912241]	uncertain significance	4	39278580	39278580	Human	1	trait
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	trait
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	trait
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	trait
151824853	CV1478348	single nucleotide variant	NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser)	Asphyxiating thoracic dystrophy 5 [RCV002030246]	uncertain significance	4	39273016	39273016	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
151820023	CV1488482	single nucleotide variant	NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met)	Asphyxiating thoracic dystrophy 5 [RCV001975636]	uncertain significance	4	39278159	39278159	Human	1	trait
151787121	CV1488605	single nucleotide variant	NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys)	Asphyxiating thoracic dystrophy 5 [RCV002010305]	uncertain significance	4	39216193	39216193	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
151721257	CV1504651	single nucleotide variant	NM_025132.4(WDR19):c.2941A>C (p.Asn981His)	Asphyxiating thoracic dystrophy 5 [RCV001983112]	uncertain significance	4	39253970	39253970	Human	1	trait
151773538	CV1504928	single nucleotide variant	NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr)	Asphyxiating thoracic dystrophy 5 [RCV001988466]	uncertain significance	4	39270066	39270066	Human	1	trait
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	trait
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	trait
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	trait
151868854	CV1514600	single nucleotide variant	NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg)	Asphyxiating thoracic dystrophy 5 [RCV001998068]	uncertain significance	4	39253962	39253962	Human	1	trait
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	trait
151868788	CV1516679	indel	NM_025132.4(WDR19):c.891-1_891delinsAT	Asphyxiating thoracic dystrophy 5 [RCV001981036]	likely pathogenic	4	39214600	39214601	Human		trait
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	trait
152160466	CV1522862	deletion	NM_025132.4(WDR19):c.2729+24_2729+33del	Asphyxiating thoracic dystrophy 5 [RCV002140831]	likely benign	4	39245470	39245479	Human	1	trait
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	trait
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	trait
152106189	CV1527321	duplication	NM_025132.4(WDR19):c.2364-4dup	Asphyxiating thoracic dystrophy 5 [RCV002079642]	benign	4	39240264	39240265	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
152097934	CV1542342	deletion	NM_025132.4(WDR19):c.2876+7_2876+8del	Asphyxiating thoracic dystrophy 5 [RCV002195166]	likely benign	4	39253298	39253299	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
152128347	CV1574035	duplication	NM_025132.4(WDR19):c.3184-16dup	Asphyxiating thoracic dystrophy 5 [RCV002155181]	likely benign	4	39266046	39266047	Human	1	trait
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	trait
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	trait
152066891	CV1579029	deletion	NM_025132.4(WDR19):c.3918-8del	Asphyxiating thoracic dystrophy 5 [RCV002074572]	likely benign	4	39278528	39278528	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
152123724	CV1587296	deletion	NM_025132.4(WDR19):c.2364-13del	Asphyxiating thoracic dystrophy 5 [RCV002136042]	likely benign	4	39240264	39240264	Human	1	trait
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	trait
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	trait
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	trait
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	trait
152169044	CV1598477	deletion	NM_025132.4(WDR19):c.164+20_164+32del	Asphyxiating thoracic dystrophy 5 [RCV002142656]	likely benign	4	39186623	39186635	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
152056908	CV1635112	deletion	NM_025132.4(WDR19):c.3918-19del	Asphyxiating thoracic dystrophy 5 [RCV002089816]	likely benign	4	39278519	39278519	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
152985492	CV1675320	single nucleotide variant	NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg)	Asphyxiating thoracic dystrophy 3 [RCV002240133]	likely pathogenic	11	103199360	103199360	Human	1	trait
152984344	CV1675328	single nucleotide variant	NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg)	Asphyxiating thoracic dystrophy 3 [RCV002238702]	likely pathogenic	11	103304658	103304658	Human	1	trait
152984350	CV1675338	single nucleotide variant	NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr)	Asphyxiating thoracic dystrophy 3 [RCV002238708]	pathogenic	11	103109576	103109576	Human	1	trait
152985499	CV1675347	single nucleotide variant	NM_001377.3(DYNC2H1):c.4429A>T (p.Lys1477Ter)	Asphyxiating thoracic dystrophy 3 [RCV002240140]	pathogenic	11	103160982	103160982	Human	1	trait
152982390	CV1677328	single nucleotide variant	NM_001377.3(DYNC2H1):c.5559-1G>C	Asphyxiating thoracic dystrophy 3 [RCV002249034]	likely pathogenic	11	103174054	103174054	Human	1	trait
152982079	CV1679039	variation	H481R	Asphyxiating thoracic dystrophy 5 [RCV002248397]	pathogenic				Human		trait
152982080	CV1679040	variation	A914D	Asphyxiating thoracic dystrophy 5 [RCV002248398]	pathogenic				Human		trait
153304798	CV1690769	single nucleotide variant	NM_001377.3(DYNC2H1):c.3446G>A (p.Trp1149Ter)	Asphyxiating thoracic dystrophy 3 [RCV002269813]	pathogenic	11	103154594	103154594	Human	1	trait
153346042	CV1691547	single nucleotide variant	NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr)	Asphyxiating thoracic dystrophy 3 [RCV002273030]	likely pathogenic	11	103177704	103177704	Human	1	trait
153346159	CV1691584	single nucleotide variant	NM_001377.3(DYNC2H1):c.5357G>C (p.Gly1786Ala)	Asphyxiating thoracic dystrophy 3 [RCV002273067]	uncertain significance	11	103173104	103173104	Human	1	trait
155268960	CV1705784	single nucleotide variant	NM_001377.3(DYNC2H1):c.6464G>A (p.Trp2155Ter)	Asphyxiating thoracic dystrophy 3 [RCV002286445]	pathogenic	11	103181873	103181873	Human	1	trait
155643885	CV1708196	single nucleotide variant	NM_001377.3(DYNC2H1):c.7172A>G (p.Asn2391Ser)	Asphyxiating thoracic dystrophy 3 [RCV002290185]	uncertain significance	11	103188528	103188528	Human	1	trait
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	trait
155664232	CV1773235	single nucleotide variant	NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys)	Asphyxiating thoracic dystrophy 5 [RCV002296947]	uncertain significance	4	39278642	39278642	Human	1	trait
155664728	CV1773275	single nucleotide variant	NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu)	Asphyxiating thoracic dystrophy 5 [RCV002296987]	uncertain significance	4	39268022	39268022	Human	1	trait
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	trait
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	trait
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	trait
155743951	CV1777581	single nucleotide variant	NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser)	Asphyxiating thoracic dystrophy 5 [RCV002303049]	uncertain significance	4	39268070	39268070	Human	1	trait
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	trait
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	trait
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	trait
155945502	CV1875421	single nucleotide variant	NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro)	Asphyxiating thoracic dystrophy 5 [RCV003073820]	uncertain significance	4	39274910	39274910	Human	1	trait
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	trait
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	trait
155974948	CV1885924	single nucleotide variant	NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met)	Asphyxiating thoracic dystrophy 5 [RCV003075366]	uncertain significance	4	39274826	39274826	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
155946836	CV2035937	single nucleotide variant	NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu)	Asphyxiating thoracic dystrophy 5 [RCV002775533]	uncertain significance	4	39273007	39273007	Human	1	trait
156106038	CV2038509	single nucleotide variant	NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln)	Asphyxiating thoracic dystrophy 5 [RCV002761495]	uncertain significance	4	39257511	39257511	Human	1	trait
156014423	CV2038593	single nucleotide variant	NM_025132.4(WDR19):c.3229C>G (p.His1077Asp)	Asphyxiating thoracic dystrophy 5 [RCV002780321]	uncertain significance	4	39266108	39266108	Human	1	trait
156113129	CV2039034	single nucleotide variant	NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr)	Asphyxiating thoracic dystrophy 5 [RCV002785481]	uncertain significance	4	39277031	39277031	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
155961252	CV2080464	deletion	NM_025132.4(WDR19):c.2337del (p.Glu780fs)	Asphyxiating thoracic dystrophy 5 [RCV002862869]	pathogenic	4	39234846	39234846	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
156128802	CV2104350	single nucleotide variant	NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val)	Asphyxiating thoracic dystrophy 5 [RCV002914471]	uncertain significance	4	39273043	39273043	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
155982823	CV2153590	deletion	NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del)	Asphyxiating thoracic dystrophy 5 [RCV003016459]	uncertain significance	4	39266104	39266109	Human	1	trait
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	trait
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	trait
155949264	CV2162480	deletion	NM_025132.4(WDR19):c.2797del (p.Asp933fs)	Asphyxiating thoracic dystrophy 5 [RCV003014757]	pathogenic	4	39253212	39253212	Human	1	trait
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	trait
156073921	CV2165344	duplication	NM_025132.4(WDR19):c.697_701dup (p.Val235fs)	Asphyxiating thoracic dystrophy 5 [RCV003037654]	pathogenic	4	39205246	39205247	Human	1	trait
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	trait
156090981	CV2167019	single nucleotide variant	NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe)	Asphyxiating thoracic dystrophy 5 [RCV003038216]	uncertain significance	4	39255891	39255891	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
11558312	CV260909	single nucleotide variant	NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg)	Asphyxiating thoracic dystrophy 3 [RCV000256416]	likely pathogenic	11	103155395	103155395	Human	1	trait
11558336	CV260926	deletion	NM_152766.5(TMEM256):c.244_265del (p.Phe82fs)	Asphyxiating thoracic dystrophy 3 [RCV000256465]	likely pathogenic	17	7403143	7403164	Human	1	trait
11663287	CV289273	single nucleotide variant	NM_020800.3(IFT80):c.*844G>T	Asphyxiating thoracic dystrophy 2 [RCV000394553]	uncertain significance	3	160257681	160257681	Human	1	trait
11651924	CV289277	single nucleotide variant	NM_020800.3(IFT80):c.*540A>G	Asphyxiating thoracic dystrophy 2 [RCV000301927]	uncertain significance	3	160257985	160257985	Human	1	trait
11659534	CV289278	single nucleotide variant	NM_020800.3(IFT80):c.*104G>A	Asphyxiating thoracic dystrophy 2 [RCV000359031]	uncertain significance	3	160258421	160258421	Human	1	trait
11593670	CV290056	single nucleotide variant	NM_020800.3(IFT80):c.*937A>T	Asphyxiating thoracic dystrophy 2 [RCV000351201]	uncertain significance	3	160257588	160257588	Human	1	trait
11651817	CV290060	single nucleotide variant	NM_020800.3(IFT80):c.1316-13A>C	Asphyxiating thoracic dystrophy 2 [RCV000301301]	uncertain significance	3	160285881	160285881	Human	1	trait
11647437	CV290067	single nucleotide variant	NM_020800.3(IFT80):c.483G>T (p.Lys161Asn)	Asphyxiating thoracic dystrophy 2 [RCV000276583]	uncertain significance	3	160366109	160366109	Human	1	trait
11598179	CV290084	single nucleotide variant	NM_020800.3(IFT80):c.-40C>T	Asphyxiating thoracic dystrophy 2 [RCV000402572]	benign\|likely benign	3	160384640	160384640	Human	1	trait
11586205	CV290085	single nucleotide variant	NM_020800.3(IFT80):c.-98G>C	Asphyxiating thoracic dystrophy 2 [RCV000286397]	uncertain significance	3	160399197	160399197	Human	1	trait
11655700	CV293149	single nucleotide variant	NM_020800.3(IFT80):c.2205C>T (p.Tyr735=)	Asphyxiating thoracic dystrophy 2 [RCV000327490]	uncertain significance	3	160268431	160268431	Human	1	trait
11650292	CV293151	single nucleotide variant	NM_020800.3(IFT80):c.1993A>T (p.Ile665Leu)	Asphyxiating thoracic dystrophy 2 [RCV000292172]	uncertain significance	3	160277412	160277412	Human	1	trait
11648568	CV293165	single nucleotide variant	NM_020800.3(IFT80):c.44A>G (p.Glu15Gly)	Asphyxiating thoracic dystrophy 2 [RCV000282728]	uncertain significance	3	160381718	160381718	Human	1	trait
11587767	CV293597	single nucleotide variant	NM_020800.3(IFT80):c.*767G>C	Asphyxiating thoracic dystrophy 2 [RCV000297523]	uncertain significance	3	160257758	160257758	Human	1	trait
11594273	CV293598	single nucleotide variant	NM_020800.3(IFT80):c.*677A>G	Asphyxiating thoracic dystrophy 2 [RCV000357107]	uncertain significance	3	160257848	160257848	Human	1	trait
11644992	CV293601	single nucleotide variant	NM_020800.3(IFT80):c.*551A>G	Asphyxiating thoracic dystrophy 2 [RCV000263159]	uncertain significance	3	160257974	160257974	Human	1	trait
13467093	CV440108	duplication	NM_018051.5(DYNC2I1):c.2503_2505dup (p.Arg835dup)	Asphyxiating thoracic dystrophy 3 [RCV001291414]	pathogenic\|likely pathogenic	7	158930469	158930470	Human	1	trait
13467424	CV440112	single nucleotide variant	NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro)	Asphyxiating thoracic dystrophy 3 [RCV001291410]	pathogenic\|likely pathogenic	9	128633958	128633958	Human	1	trait
13467228	CV440113	single nucleotide variant	NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala)	Asphyxiating thoracic dystrophy 3 [RCV001291409]	pathogenic\|likely pathogenic	9	128634843	128634843	Human	1	trait
13467309	CV440118	single nucleotide variant	NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro)	Asphyxiating thoracic dystrophy 3 [RCV001291283]	pathogenic\|likely pathogenic	11	103109767	103109767	Human	1	trait
13466997	CV440119	single nucleotide variant	NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=)	Asphyxiating thoracic dystrophy 3 [RCV001291041]	pathogenic\|likely pathogenic	11	103109769	103109769	Human	1	trait
13467002	CV440136	single nucleotide variant	NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His)	Asphyxiating thoracic dystrophy 3 [RCV001291160]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	103156490	103156490	Human	1	trait
13467031	CV440144	single nucleotide variant	NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn)	Asphyxiating thoracic dystrophy 3 [RCV001291291]	pathogenic\|likely pathogenic	11	103168812	103168812	Human	1	trait
13467189	CV440145	single nucleotide variant	NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys)	Asphyxiating thoracic dystrophy 3 [RCV001291401]	pathogenic\|likely pathogenic	11	103168956	103168956	Human	1	trait
13467138	CV440156	single nucleotide variant	NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp)	Asphyxiating thoracic dystrophy 3 [RCV001291049]	pathogenic\|likely pathogenic\|uncertain significance	11	103179157	103179157	Human	1	trait
13467519	CV440158	single nucleotide variant	NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr)	Asphyxiating thoracic dystrophy 3 [RCV001291286]	pathogenic\|likely pathogenic	11	103184963	103184963	Human	1	trait
13467550	CV440159	single nucleotide variant	NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu)	Asphyxiating thoracic dystrophy 3 [RCV001291406]	pathogenic\|likely pathogenic	11	103184980	103184980	Human	1	trait
13467112	CV440160	single nucleotide variant	NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe)	Asphyxiating thoracic dystrophy 3 [RCV001291171]	pathogenic\|likely pathogenic	11	103184992	103184992	Human	1	trait
13467199	CV440161	single nucleotide variant	NM_001377.3(DYNC2H1):c.6634-2A>G	Asphyxiating thoracic dystrophy 3 [RCV001291399]	pathogenic\|likely pathogenic	11	103186240	103186240	Human	1	trait
13467094	CV440163	single nucleotide variant	NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg)	Asphyxiating thoracic dystrophy 3 [RCV001291403]	pathogenic\|likely pathogenic	11	103186491	103186491	Human	1	trait
13467338	CV440165	single nucleotide variant	NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile)	Asphyxiating thoracic dystrophy 3 [RCV001291178]	pathogenic\|likely pathogenic	11	103187558	103187558	Human	1	trait
13466982	CV440166	single nucleotide variant	NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr)	Asphyxiating thoracic dystrophy 3 [RCV001291165]	pathogenic\|likely pathogenic	11	103188624	103188624	Human	1	trait
13467535	CV440171	single nucleotide variant	NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His)	Asphyxiating thoracic dystrophy 3 [RCV001291284]	pathogenic\|likely pathogenic	11	103191604	103191604	Human	1	trait
13466939	CV440174	single nucleotide variant	NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser)	Asphyxiating thoracic dystrophy 3 [RCV001291398]	pathogenic\|likely pathogenic	11	103192199	103192199	Human	1	trait
13467546	CV440176	deletion	NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del)	Asphyxiating thoracic dystrophy 3 [RCV001291394]	pathogenic\|likely pathogenic	11	103197995	103198003	Human	1	trait
13467335	CV440184	single nucleotide variant	NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu)	Asphyxiating thoracic dystrophy 3 [RCV001291288]	pathogenic\|likely pathogenic	11	103199458	103199458	Human	1	trait
13466935	CV440185	single nucleotide variant	NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter)	Asphyxiating thoracic dystrophy 3 [RCV001291174]	pathogenic\|likely pathogenic	11	103200102	103200102	Human	1	trait
13467307	CV440194	single nucleotide variant	NM_001377.3(DYNC2H1):c.9710-2A>G	Asphyxiating thoracic dystrophy 3 [RCV001291395]	pathogenic\|likely pathogenic	11	103236428	103236428	Human	1	trait
13467033	CV440201	single nucleotide variant	NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter)	Asphyxiating thoracic dystrophy 3 [RCV001291168]	pathogenic\|likely pathogenic	11	103257749	103257749	Human	1	trait
13467322	CV440207	single nucleotide variant	NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter)	Asphyxiating thoracic dystrophy 3 [RCV001291405]	pathogenic\|likely pathogenic	11	103321132	103321132	Human	1	trait
13467218	CV440209	insertion	NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs)	Asphyxiating thoracic dystrophy 3 [RCV001291290]	pathogenic\|likely pathogenic	11	103456350	103456351	Human	1	trait
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	trait
13625277	CV520178	deletion	NM_025132.4(WDR19):c.1080del (p.Ile361fs)	Asphyxiating thoracic dystrophy 5 [RCV000653248]	pathogenic	4	39215958	39215958	Human	1	trait
13704893	CV538980	single nucleotide variant	NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro)	Asphyxiating thoracic dystrophy 1 [RCV000662209]	uncertain significance	4	169401825	169401825	Human	1	trait
13794527	CV552147	single nucleotide variant	NM_001377.3(DYNC2H1):c.11048C>T (p.Pro3683Leu)	Asphyxiating thoracic dystrophy 3 [RCV000679970]	uncertain significance	11	103287558	103287558	Human	1	trait
14393348	CV609211	single nucleotide variant	NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys)	Asphyxiating thoracic dystrophy 3 [RCV000755105]	likely pathogenic\|uncertain significance	11	103181796	103181796	Human	1	trait
14393347	CV609212	single nucleotide variant	NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys)	Asphyxiating thoracic dystrophy 3 [RCV000755104]	likely pathogenic	11	103186442	103186442	Human	1	trait
14393349	CV609213	single nucleotide variant	NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser)	Asphyxiating thoracic dystrophy 3 [RCV000755106]	likely pathogenic	11	103204849	103204849	Human	1	trait
14393350	CV609214	single nucleotide variant	NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter)	Asphyxiating thoracic dystrophy 3 [RCV000755108]	likely pathogenic	11	103257740	103257740	Human	1	trait
14693709	CV620759	single nucleotide variant	NM_020800.3(IFT80):c.1381-1G>T	Asphyxiating thoracic dystrophy 2 [RCV000779397]	uncertain significance	3	160282614	160282614	Human		trait
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	trait
14714807	CV632195	single nucleotide variant	NM_025132.4(WDR19):c.2003T>C (p.Met668Thr)	Asphyxiating thoracic dystrophy 5 [RCV000811020]	uncertain significance	4	39231817	39231817	Human	1	trait
14731168	CV632196	single nucleotide variant	NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser)	Asphyxiating thoracic dystrophy 5 [RCV000801272]	uncertain significance	4	39257531	39257531	Human	1	trait
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	trait
15015363	CV680048	single nucleotide variant	NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg)	Asphyxiating thoracic dystrophy 3 [RCV000853583]	likely pathogenic	11	103243693	103243693	Human	1	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
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	trait
126746899	CV990117	single nucleotide variant	NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser)	Asphyxiating thoracic dystrophy 5 [RCV001296649]	uncertain significance	4	39217999	39217999	Human	1	trait
126756789	CV990118	single nucleotide variant	NM_025132.4(WDR19):c.1522G>A (p.Val508Ile)	Asphyxiating thoracic dystrophy 5 [RCV001308218]	uncertain significance	4	39224926	39224926	Human	1	trait
126725455	CV990122	single nucleotide variant	NM_025132.4(WDR19):c.2363C>T (p.Ala788Val)	Asphyxiating thoracic dystrophy 5 [RCV001302572]	uncertain significance	4	39234875	39234875	Human	1	trait
126725901	CV990125	single nucleotide variant	NM_025132.4(WDR19):c.3485T>A (p.Ile1162Asn)	Asphyxiating thoracic dystrophy 5 [RCV001302721]	uncertain significance	4	39272981	39272981	Human	1	trait
126754079	CV990127	single nucleotide variant	NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr)	Asphyxiating thoracic dystrophy 5 [RCV001307544]	uncertain significance	4	39277136	39277136	Human	1	trait

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