Cpamd8 Variant Search Result - Rat Genome Database

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565 records found for search term Cpamd8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156047490	CV2390944	single nucleotide variant	NM_015692.5(CPAMD8):c.-7C>G	Inborn genetic diseases [RCV002759141]	uncertain significance	19	17026649	17026649	Human	1	name
151810733	CV1375128	single nucleotide variant	NM_015692.5(CPAMD8):c.-11G>A	not provided [RCV001933175]	uncertain significance	19	17026653	17026653	Human		name
156139928	CV1898469	single nucleotide variant	NM_015692.5(CPAMD8):c.-54C>G	not provided [RCV003082164]	uncertain significance	19	17026696	17026696	Human		name
156267426	CV2198818	single nucleotide variant	NM_015692.5(CPAMD8):c.-68G>T	Inborn genetic diseases [RCV002669332]	uncertain significance	19	17026710	17026710	Human	1	name
155917187	CV2202250	single nucleotide variant	NM_015692.5(CPAMD8):c.-80C>T	Inborn genetic diseases [RCV002682310]	uncertain significance	19	17026722	17026722	Human	1	name
156399831	CV2202251	single nucleotide variant	NM_015692.5(CPAMD8):c.-75G>T	Inborn genetic diseases [RCV002656222]	uncertain significance	19	17026717	17026717	Human	1	name
156399832	CV2202252	single nucleotide variant	NM_015692.5(CPAMD8):c.-74C>T	Inborn genetic diseases [RCV002656223]	uncertain significance	19	17026716	17026716	Human	1	name
156195385	CV2223426	single nucleotide variant	NM_015692.5(CPAMD8):c.-89G>T	Inborn genetic diseases [RCV002743102]	uncertain significance	19	17026731	17026731	Human	1	name
156253014	CV2390113	single nucleotide variant	NM_015692.5(CPAMD8):c.-42C>T	Inborn genetic diseases [RCV002768986]	uncertain significance	19	17026684	17026684	Human	1	name
243051261	CV2415785	single nucleotide variant	NM_015692.5(CPAMD8):c.-55G>A	Anterior segment dysgenesis 8 [RCV003148395]	likely pathogenic	19	17026697	17026697	Human	1	name
329400448	CV2441685	single nucleotide variant	NM_015692.5(CPAMD8):c.-71T>C	Inborn genetic diseases [RCV003197443]	uncertain significance	19	17026713	17026713	Human	1	name
407456939	CV3419568	single nucleotide variant	NM_015692.5(CPAMD8):c.-95G>A	Inborn genetic diseases [RCV004610962]	uncertain significance	19	17026737	17026737	Human	1	name
150433126	CV1230410	single nucleotide variant	NM_015692.5(CPAMD8):c.*130A>C	not provided [RCV001643355]	benign	19	16892978	16892978	Human		name
156063950	CV2331054	single nucleotide variant	NM_015692.5(CPAMD8):c.-129G>T	Inborn genetic diseases [RCV002950854]	uncertain significance	19	17026771	17026771	Human	1	name
405686054	CV3235837	single nucleotide variant	NM_015692.5(CPAMD8):c.-122G>T	Inborn genetic diseases [RCV004372351]	uncertain significance	19	17026764	17026764	Human	1	name
597664101	CV3650941	single nucleotide variant	NM_015692.5(CPAMD8):c.-120G>T	Inborn genetic diseases [RCV004979102]	uncertain significance	19	17026762	17026762	Human	1	name
150455125	CV1232402	single nucleotide variant	NM_015692.5(CPAMD8):c.93-37G>T	not provided [RCV001648416]	benign	19	17022218	17022218	Human		name
150465679	CV1255073	single nucleotide variant	NM_015692.5(CPAMD8):c.92+71T>G	not provided [RCV001670246]	benign	19	17026480	17026480	Human		name
156072038	CV2065809	single nucleotide variant	NM_015692.5(CPAMD8):c.487-8C>T	not provided [RCV002847103]	likely benign	19	17009328	17009328	Human		name
155935232	CV2114093	single nucleotide variant	NM_015692.5(CPAMD8):c.433+8G>A	not provided [RCV002904084]	benign	19	17011584	17011584	Human		name
156261654	CV2143309	single nucleotide variant	NM_015692.5(CPAMD8):c.759-7G>T	not provided [RCV003008945]	benign	19	17000529	17000529	Human		name
597948312	CV3852471	single nucleotide variant	NM_015692.5(CPAMD8):c.560-8T>A	not provided [RCV005189549]	likely benign	19	17004394	17004394	Human		name
15168719	CV780178	single nucleotide variant	NM_015692.5(CPAMD8):c.867+8A>G	CPAMD8-related disorder [RCV004754661]\|not provided [RCV000971672]	benign\|likely benign	19	17000406	17000406	Human	1	name , trait , alternate_id
150511110	CV1213796	single nucleotide variant	NM_015692.5(CPAMD8):c.93-200T>C	not provided [RCV001597865]	benign	19	17022381	17022381	Human		name
150515497	CV1217512	single nucleotide variant	NM_015692.5(CPAMD8):c.758+75G>T	not provided [RCV001608418]	benign	19	17002191	17002191	Human		name
150474188	CV1217758	single nucleotide variant	NM_015692.5(CPAMD8):c.268-63C>T	not provided [RCV001615769]	benign	19	17011820	17011820	Human		name
150493513	CV1225679	single nucleotide variant	NM_015692.5(CPAMD8):c.758+61G>A	not provided [RCV001619195]	benign	19	17002205	17002205	Human		name
150501190	CV1256244	single nucleotide variant	NM_015692.5(CPAMD8):c.268-81C>T	not provided [RCV001676868]	benign	19	17011838	17011838	Human		name
150450755	CV1260993	single nucleotide variant	NM_015692.5(CPAMD8):c.3787-3C>T	CPAMD8-related disorder [RCV003968468]\|not provided [RCV001680662]	benign	19	16914501	16914501	Human	1	name , trait , alternate_id
150480933	CV1279617	single nucleotide variant	NM_015692.5(CPAMD8):c.759-79T>C	not provided [RCV001714745]	benign	19	17000601	17000601	Human		name
150537008	CV1314441	single nucleotide variant	NM_015692.5(CPAMD8):c.2070+1G>A	not provided [RCV002541186]	likely pathogenic	19	16975096	16975096	Human		name
151348727	CV1324185	single nucleotide variant	NM_015692.5(CPAMD8):c.2070+1G>C	Anterior segment dysgenesis 8 [RCV001808101]	likely pathogenic	19	16975096	16975096	Human	1	name
156035713	CV1932711	single nucleotide variant	NM_015692.5(CPAMD8):c.2277-4G>T	not provided [RCV002637362]	benign	19	16952204	16952204	Human		name
156447303	CV1938498	single nucleotide variant	NM_015692.5(CPAMD8):c.4252-9C>T	not provided [RCV003118830]	likely benign	19	16903866	16903866	Human		name
156415125	CV1965189	single nucleotide variant	NM_015692.5(CPAMD8):c.505-13C>T	not provided [RCV002588990]	benign	19	17008572	17008572	Human		name
155958241	CV2040279	single nucleotide variant	NM_015692.5(CPAMD8):c.267+13T>G	not provided [RCV002776131]	benign	19	17020318	17020318	Human		name
156217771	CV2047715	single nucleotide variant	NM_015692.5(CPAMD8):c.559+19G>A	not provided [RCV002790512]	likely benign	19	17008486	17008486	Human		name
156228670	CV2048564	single nucleotide variant	NM_015692.5(CPAMD8):c.559+18C>T	not provided [RCV002790907]	likely benign	19	17008487	17008487	Human		name
156351736	CV2065841	single nucleotide variant	NM_015692.5(CPAMD8):c.4028-9T>G	not provided [RCV002811837]	likely benign	19	16904561	16904561	Human		name
156199403	CV2092421	single nucleotide variant	NM_015692.5(CPAMD8):c.4774-6C>T	CPAMD8-related disorder [RCV003906294]\|not provided [RCV002917731]	benign\|likely benign	19	16899555	16899555	Human	1	name , trait , alternate_id
401927056	CV2798830	single nucleotide variant	NM_015692.5(CPAMD8):c.4407+2T>G	CPAMD8-related disorder [RCV003406058]	likely pathogenic	19	16903700	16903700	Human		name , trait , alternate_id
402482540	CV2864193	single nucleotide variant	NM_015692.5(CPAMD8):c.505-15C>G	not provided [RCV003544060]	likely benign	19	17008574	17008574	Human		name
405122146	CV2888268	single nucleotide variant	NM_015692.5(CPAMD8):c.2277-5C>T	not provided [RCV003559183]	likely benign	19	16952205	16952205	Human		name
405111268	CV2942179	single nucleotide variant	NM_015692.5(CPAMD8):c.1266+7G>A	not provided [RCV003666338]	uncertain significance	19	16993409	16993409	Human		name
405224582	CV3035878	single nucleotide variant	NM_015692.5(CPAMD8):c.1909-4G>T	not provided [RCV003710388]	likely benign	19	16975262	16975262	Human		name
405141342	CV3125817	single nucleotide variant	NM_015692.5(CPAMD8):c.559+16T>C	not provided [RCV003816732]	likely benign	19	17008489	17008489	Human		name
405274070	CV3191790	single nucleotide variant	NM_015692.5(CPAMD8):c.4849-9G>A	CPAMD8-related disorder [RCV003921889]	likely benign	19	16898003	16898003	Human		name , trait , alternate_id
405295422	CV3204558	single nucleotide variant	NM_015692.5(CPAMD8):c.1585+7C>T	CPAMD8-related disorder [RCV003937327]\|not provided [RCV005101901]	likely benign	19	16980490	16980490	Human	1	name , trait , alternate_id
405290200	CV3205974	single nucleotide variant	NM_015692.5(CPAMD8):c.1758+5A>G	CPAMD8-related disorder [RCV003962126]	likely benign	19	16977363	16977363	Human		name , trait , alternate_id
405708056	CV3225459	single nucleotide variant	NM_015692.5(CPAMD8):c.1759-1G>A	Anterior segment dysgenesis 8 [RCV003990514]	uncertain significance	19	16976152	16976152	Human	1	name
12743358	CV362087	single nucleotide variant	NM_015692.5(CPAMD8):c.4408-1G>A	Anterior segment dysgenesis 8 [RCV000416350]\|Anterior segment dysgenesis [RCV001200034]	pathogenic\|likely pathogenic	19	16903624	16903624	Human	3	name
597957568	CV3755110	single nucleotide variant	NM_015692.5(CPAMD8):c.433+10C>T	not provided [RCV005080780]	likely benign	19	17011582	17011582	Human		name
597920343	CV3765105	single nucleotide variant	NM_015692.5(CPAMD8):c.3371-7C>T	not provided [RCV005115122]	likely benign	19	16925379	16925379	Human		name
598191401	CV4008955	single nucleotide variant	NM_015692.5(CPAMD8):c.1395+5G>C	Anterior segment dysgenesis 8 [RCV005396457]	uncertain significance	19	16989638	16989638	Human	1	name
15187037	CV731258	single nucleotide variant	NM_015692.5(CPAMD8):c.4849-5C>T	CPAMD8-related disorder [RCV003940573]\|not provided [RCV000887144]	benign	19	16897999	16897999	Human	1	name , trait , alternate_id
15148251	CV779978	single nucleotide variant	NM_015692.5(CPAMD8):c.4955-9G>T	not provided [RCV000967507]	benign	19	16897810	16897810	Human		name
15169521	CV779988	single nucleotide variant	NM_015692.5(CPAMD8):c.4407+7G>A	not provided [RCV000971828]	benign	19	16903695	16903695	Human		name
150336525	CV1165119	single nucleotide variant	NM_015692.5(CPAMD8):c.4028-58G>C	not provided [RCV001530883]	benign	19	16904610	16904610	Human		name
150340008	CV1168423	single nucleotide variant	NM_015692.5(CPAMD8):c.2793+65C>G	not provided [RCV001534857]	benign	19	16945484	16945484	Human		name
150332987	CV1169807	single nucleotide variant	NM_015692.5(CPAMD8):c.758+155G>A	not provided [RCV001537108]	benign	19	17002111	17002111	Human		name
150336839	CV1173199	single nucleotide variant	NM_015692.5(CPAMD8):c.2070+42T>G	not provided [RCV001541223]	benign	19	16975055	16975055	Human		name
150337790	CV1173201	single nucleotide variant	NM_015692.5(CPAMD8):c.1396-37G>A	not provided [RCV001541852]	benign	19	16980723	16980723	Human		name
150333504	CV1173202	duplication	NM_015692.5(CPAMD8):c.1267-87dup	not provided [RCV001539530]	benign	19	16989856	16989857	Human		name
150466748	CV1218242	single nucleotide variant	NM_015692.5(CPAMD8):c.504+190G>A	not provided [RCV001614368]	benign	19	17009113	17009113	Human		name
150452925	CV1219774	single nucleotide variant	NM_015692.5(CPAMD8):c.2276+42G>C	not provided [RCV001612155]	benign	19	16957811	16957811	Human		name
150517412	CV1226862	single nucleotide variant	NM_015692.5(CPAMD8):c.505-191A>G	not provided [RCV001639956]	benign	19	17008750	17008750	Human		name
150454238	CV1232235	single nucleotide variant	NM_015692.5(CPAMD8):c.4252-51A>G	not provided [RCV001648248]	benign	19	16903908	16903908	Human		name
150461082	CV1234732	single nucleotide variant	NM_015692.5(CPAMD8):c.1395+15A>T	not provided [RCV001649314]	benign	19	16989628	16989628	Human		name
150430693	CV1243434	single nucleotide variant	NM_015692.5(CPAMD8):c.504+158C>T	not provided [RCV001663053]	benign	19	17009145	17009145	Human		name
150510052	CV1248488	single nucleotide variant	NM_015692.5(CPAMD8):c.673+198A>G	not provided [RCV001659557]	benign	19	17004075	17004075	Human		name
150462280	CV1253350	single nucleotide variant	NM_015692.5(CPAMD8):c.3145-29C>T	not provided [RCV001669679]	benign	19	16928263	16928263	Human		name
150492977	CV1257460	single nucleotide variant	NM_015692.5(CPAMD8):c.1758+57A>G	not provided [RCV001675133]	benign	19	16977311	16977311	Human		name
150506622	CV1258011	single nucleotide variant	NM_015692.5(CPAMD8):c.3144+54C>T	not provided [RCV001678228]	benign	19	16928888	16928888	Human		name
150471190	CV1259065	single nucleotide variant	NM_015692.5(CPAMD8):c.1267-20T>C	not provided [RCV001684309]	benign	19	16989791	16989791	Human		name
150453588	CV1260536	single nucleotide variant	NM_015692.5(CPAMD8):c.267+166C>G	not provided [RCV001681028]	benign	19	17020165	17020165	Human		name
150477151	CV1262461	single nucleotide variant	NM_015692.5(CPAMD8):c.4252-75T>G	not provided [RCV001685274]	benign	19	16903932	16903932	Human		name
150487209	CV1262701	single nucleotide variant	NM_015692.5(CPAMD8):c.487-172C>T	not provided [RCV001687099]	benign	19	17009492	17009492	Human		name
150459129	CV1263971	single nucleotide variant	NM_015692.5(CPAMD8):c.1266+64G>A	not provided [RCV001681885]	benign	19	16993352	16993352	Human		name
150459275	CV1263994	single nucleotide variant	NM_015692.5(CPAMD8):c.867+180C>A	not provided [RCV001681909]	benign	19	17000234	17000234	Human		name
150442088	CV1264375	single nucleotide variant	NM_015692.5(CPAMD8):c.1095+96C>T	not provided [RCV001679358]	benign	19	16997015	16997015	Human		name
150442352	CV1266215	single nucleotide variant	NM_015692.5(CPAMD8):c.5426+40T>G	not provided [RCV001690651]	benign	19	16896136	16896136	Human		name
150489657	CV1267481	single nucleotide variant	NM_015692.5(CPAMD8):c.3144+89A>G	not provided [RCV001687504]	benign	19	16928853	16928853	Human		name
150490862	CV1267683	single nucleotide variant	NM_015692.5(CPAMD8):c.4028-66C>T	not provided [RCV001687707]	benign	19	16904618	16904618	Human		name
150448955	CV1270532	duplication	NM_015692.5(CPAMD8):c.4773+68dup	not provided [RCV001691670]	benign	19	16901139	16901140	Human		name
150484938	CV1273844	deletion	NM_015692.5(CPAMD8):c.504+206del	not provided [RCV001698609]	benign	19	17009097	17009097	Human		name
150462252	CV1276059	deletion	NM_015692.5(CPAMD8):c.504+207del	not provided [RCV001709998]	benign	19	17009096	17009096	Human		name
150463176	CV1276187	single nucleotide variant	NM_015692.5(CPAMD8):c.868-135T>C	not provided [RCV001710132]	benign	19	16997473	16997473	Human		name
150508923	CV1284405	single nucleotide variant	NM_015692.5(CPAMD8):c.1908+39G>A	not provided [RCV001720513]	benign	19	16975963	16975963	Human		name
150442395	CV1287717	single nucleotide variant	NM_015692.5(CPAMD8):c.1395+76T>A	not provided [RCV001725438]	benign	19	16989567	16989567	Human		name
152028307	CV1586839	single nucleotide variant	NM_015692.5(CPAMD8):c.1095+11G>A	not provided [RCV002085421]	benign	19	16997100	16997100	Human		name
152090664	CV1602728	single nucleotide variant	NM_015692.5(CPAMD8):c.3371-13T>A	not provided [RCV002194253]	benign	19	16925385	16925385	Human		name
156050332	CV2006709	single nucleotide variant	NM_015692.5(CPAMD8):c.5276-20C>T	not provided [RCV002659344]	likely benign	19	16896346	16896346	Human		name
155958202	CV2040277	single nucleotide variant	NM_015692.5(CPAMD8):c.4471-13C>T	not provided [RCV002776129]	benign	19	16902876	16902876	Human		name
155958225	CV2040278	single nucleotide variant	NM_015692.5(CPAMD8):c.3861+12A>G	not provided [RCV002776130]	benign	19	16914412	16914412	Human		name
155961274	CV2040481	single nucleotide variant	NM_015692.5(CPAMD8):c.2070+11G>A	not provided [RCV002776278]	benign	19	16975086	16975086	Human		name
155952151	CV2043777	single nucleotide variant	NM_015692.5(CPAMD8):c.3548-13G>T	not provided [RCV002775830]	benign	19	16921999	16921999	Human		name
405168780	CV2950971	single nucleotide variant	NM_015692.5(CPAMD8):c.3786+19C>T	not provided [RCV003675183]	likely benign	19	16914638	16914638	Human		name
402488109	CV2999137	single nucleotide variant	NM_015692.5(CPAMD8):c.4685+10C>T	not provided [RCV003687160]	likely benign	19	16902639	16902639	Human		name
405203983	CV3116814	single nucleotide variant	NM_015692.5(CPAMD8):c.1909-11T>C	not provided [RCV003822298]	likely benign	19	16975269	16975269	Human		name
405164225	CV3125265	single nucleotide variant	NM_015692.5(CPAMD8):c.1396-13G>A	not provided [RCV003818537]	likely benign	19	16980699	16980699	Human		name
405145831	CV3126141	single nucleotide variant	NM_015692.5(CPAMD8):c.1909-16C>T	not provided [RCV003817057]	likely benign	19	16975274	16975274	Human		name
402521381	CV3179462	single nucleotide variant	NM_015692.5(CPAMD8):c.5276-13C>T	not provided [RCV003879714]	benign	19	16896339	16896339	Human		name
402522232	CV3179500	single nucleotide variant	NM_015692.5(CPAMD8):c.1396-16T>G	not provided [RCV003879752]	benign	19	16980702	16980702	Human		name
404980299	CV3183279	single nucleotide variant	NM_015692.5(CPAMD8):c.3787-19C>G	not provided [RCV003880302]	benign	19	16914517	16914517	Human		name
405288945	CV3210001	single nucleotide variant	NM_015692.5(CPAMD8):c.4773+10C>T	CPAMD8-related disorder [RCV003961480]\|not provided [RCV005102929]	benign\|likely benign	19	16901200	16901200	Human	1	name , trait , alternate_id
597834919	CV3760864	single nucleotide variant	NM_015692.5(CPAMD8):c.4407+10C>T	not provided [RCV005085415]	likely benign	19	16903692	16903692	Human		name
597908499	CV3829920	single nucleotide variant	NM_015692.5(CPAMD8):c.3786+11C>T	not provided [RCV005182489]	likely benign	19	16914646	16914646	Human		name
597915611	CV3845628	single nucleotide variant	NM_015692.5(CPAMD8):c.1758+10C>T	not provided [RCV005183423]	likely benign	19	16977358	16977358	Human		name
15172125	CV779982	single nucleotide variant	NM_015692.5(CPAMD8):c.4470+10T>G	not provided [RCV000972337]	benign	19	16903551	16903551	Human		name
150457165	CV1219581	single nucleotide variant	NM_015692.5(CPAMD8):c.1585+181G>C	not provided [RCV001612797]	benign	19	16980316	16980316	Human		name
150436838	CV1220614	single nucleotide variant	NM_015692.5(CPAMD8):c.2663-187A>G	not provided [RCV001609598]	benign	19	16945866	16945866	Human		name
150492273	CV1225441	duplication	NM_015692.5(CPAMD8):c.4849-165dup	not provided [RCV001618956]	benign	19	16898144	16898145	Human		name
150450395	CV1232675	duplication	NM_015692.5(CPAMD8):c.3144+158dup	not provided [RCV001647750]	benign	19	16928769	16928770	Human		name
150435359	CV1233840	single nucleotide variant	NM_015692.5(CPAMD8):c.3547+108G>T	not provided [RCV001643967]	benign	19	16925088	16925088	Human		name
150474470	CV1234456	single nucleotide variant	NM_015692.5(CPAMD8):c.2846-196T>C	not provided [RCV001651776]	benign	19	16929436	16929436	Human		name
150462275	CV1234888	single nucleotide variant	NM_015692.5(CPAMD8):c.3862-164G>C	not provided [RCV001649470]	benign	19	16907281	16907281	Human		name
150431147	CV1235350	single nucleotide variant	NM_015692.5(CPAMD8):c.3629+165T>C	not provided [RCV001641720]	benign	19	16921740	16921740	Human		name
150431475	CV1235459	single nucleotide variant	NM_015692.5(CPAMD8):c.1585+178G>A	not provided [RCV001641829]	benign	19	16980319	16980319	Human		name
150488438	CV1237480	single nucleotide variant	NM_015692.5(CPAMD8):c.4028-137C>T	not provided [RCV001654329]	benign	19	16904689	16904689	Human		name
150476386	CV1239873	single nucleotide variant	NM_015692.5(CPAMD8):c.2508+135A>G	not provided [RCV001652050]	benign	19	16951834	16951834	Human		name
150508828	CV1244928	single nucleotide variant	NM_015692.5(CPAMD8):c.3548-173A>G	not provided [RCV001659179]	benign	19	16922159	16922159	Human		name
150469405	CV1249089	single nucleotide variant	NM_015692.5(CPAMD8):c.1267-150T>C	not provided [RCV001670851]	benign	19	16989921	16989921	Human		name
150447096	CV1250772	single nucleotide variant	NM_015692.5(CPAMD8):c.4773+161C>A	not provided [RCV001667277]	benign	19	16901049	16901049	Human		name
150465331	CV1252864	single nucleotide variant	NM_015692.5(CPAMD8):c.1909-220T>A	not provided [RCV001670188]	benign	19	16975478	16975478	Human		name
150506753	CV1258044	single nucleotide variant	NM_015692.5(CPAMD8):c.2276+139C>T	not provided [RCV001678261]	benign	19	16957714	16957714	Human		name
150454110	CV1260610	single nucleotide variant	NM_015692.5(CPAMD8):c.4251+165C>T	not provided [RCV001681103]	benign	19	16904061	16904061	Human		name
150494540	CV1267370	single nucleotide variant	NM_015692.5(CPAMD8):c.5426+200C>T	not provided [RCV001688398]	benign	19	16895976	16895976	Human		name
150478171	CV1271013	single nucleotide variant	NM_015692.5(CPAMD8):c.1758+198G>A	not provided [RCV001696449]	benign	19	16977170	16977170	Human		name
150446869	CV1271931	single nucleotide variant	NM_015692.5(CPAMD8):c.3144+117A>G	not provided [RCV001691345]	benign	19	16928825	16928825	Human		name
150462719	CV1276120	single nucleotide variant	NM_015692.5(CPAMD8):c.2793+214C>T	not provided [RCV001710065]	benign	19	16945335	16945335	Human		name
150450902	CV1276525	single nucleotide variant	NM_015692.5(CPAMD8):c.1585+166C>A	not provided [RCV001708314]	benign	19	16980331	16980331	Human		name
150458241	CV1278739	single nucleotide variant	NM_015692.5(CPAMD8):c.3629+156A>G	not provided [RCV001709356]	benign	19	16921749	16921749	Human		name
150508919	CV1284404	single nucleotide variant	NM_015692.5(CPAMD8):c.1586-108C>T	not provided [RCV001720512]	benign	19	16977648	16977648	Human		name
150442389	CV1287716	single nucleotide variant	NM_015692.5(CPAMD8):c.1758+164A>G	not provided [RCV001725437]	benign	19	16977204	16977204	Human		name
405214853	CV2876016	duplication	NM_015692.5(CPAMD8):c.-110_-96dup	not provided [RCV003553084]	uncertain significance	19	17026737	17026738	Human		name
405281198	CV2748467	single nucleotide variant	NM_015692.5(CPAMD8):c.4028-1030T>C	Anterior segment dysgenesis 8 [RCV003988109]	uncertain significance	19	16905582	16905582	Human	1	name
155974582	CV2269974	single nucleotide variant	NM_015692.5(CPAMD8):c.6C>G (p.Ser2Arg)	Inborn genetic diseases [RCV002818017]	uncertain significance	19	17026637	17026637	Human	1	name
401763366	CV2720294	single nucleotide variant	NM_015692.5(CPAMD8):c.7G>A (p.Gly3Ser)	Inborn genetic diseases [RCV003300538]	uncertain significance	19	17026636	17026636	Human	1	name
404984292	CV2738986	deletion	NM_015692.5(CPAMD8):c.1758+1_1758+4del	Anterior segment dysgenesis 8 [RCV003492854]\|not provided [RCV003730524]	likely pathogenic	19	16977364	16977367	Human	1	name
156313328	CV1896586	single nucleotide variant	NM_015692.5(CPAMD8):c.132C>T (p.Gly44=)	not provided [RCV003088576]	likely benign	19	17022142	17022142	Human		name
156198147	CV2113795	single nucleotide variant	NM_015692.5(CPAMD8):c.276G>A (p.Thr92=)	CPAMD8-related disorder [RCV003906360]\|not provided [RCV002957283]	benign\|likely benign	19	17011749	17011749	Human	1	name , trait , alternate_id
401928106	CV2795572	deletion	NM_015692.5(CPAMD8):c.3798_3861+1759del	Glaucoma 3A [RCV003389616]	pathogenic	19	16912665	16914487	Human	1	name
598235359	CV3945174	single nucleotide variant	NM_015692.5(CPAMD8):c.14T>G (p.Leu5Arg)	Inborn genetic diseases [RCV005320238]	uncertain significance	19	17026629	17026629	Human	1	name
15181817	CV716269	single nucleotide variant	NM_015692.5(CPAMD8):c.216G>A (p.Pro72=)	not provided [RCV000974485]	benign	19	17022058	17022058	Human		name
15196627	CV756805	single nucleotide variant	NM_015692.5(CPAMD8):c.126C>T (p.Arg42=)	not provided [RCV000911749]	likely benign	19	17022148	17022148	Human		name
150504176	CV1223898	deletion	NM_015692.5(CPAMD8):c.867+209_867+225del	not provided [RCV001621547]	benign	19	17000189	17000205	Human		name
150516600	CV1227143	single nucleotide variant	NM_015692.5(CPAMD8):c.918G>A (p.Ala306=)	CPAMD8-related disorder [RCV003966262]\|not provided [RCV001639241]	benign	19	16997288	16997288	Human	1	name , trait , alternate_id
150450928	CV1272440	single nucleotide variant	NM_015692.5(CPAMD8):c.687T>C (p.Phe229=)	CPAMD8-related disorder [RCV003976026]\|not provided [RCV001691921]	benign	19	17002337	17002337	Human	1	name , trait , alternate_id
150508975	CV1284419	single nucleotide variant	NM_015692.5(CPAMD8):c.372C>T (p.Asp124=)	CPAMD8-related disorder [RCV003976086]\|not provided [RCV001720527]	benign	19	17011653	17011653	Human	1	name , trait , alternate_id
156373648	CV2003737	single nucleotide variant	NM_015692.5(CPAMD8):c.642G>A (p.Ala214=)	not provided [RCV002653107]	likely benign	19	17004304	17004304	Human		name
155987383	CV2094108	single nucleotide variant	NM_015692.5(CPAMD8):c.819A>G (p.Val273=)	not provided [RCV002882223]	benign	19	17000462	17000462	Human		name
156040695	CV2094109	single nucleotide variant	NM_015692.5(CPAMD8):c.588C>T (p.Ser196=)	not provided [RCV002885799]	benign	19	17004358	17004358	Human		name
156080890	CV2098661	single nucleotide variant	NM_015692.5(CPAMD8):c.999C>T (p.Phe333=)	CPAMD8-related disorder [RCV003926466]\|not provided [RCV002912699]	benign	19	16997207	16997207	Human	1	name , trait , alternate_id
156021576	CV2105744	single nucleotide variant	NM_015692.5(CPAMD8):c.921C>T (p.Asp307=)	not provided [RCV002923090]	likely benign	19	16997285	16997285	Human		name
156025477	CV2106085	single nucleotide variant	NM_015692.5(CPAMD8):c.639C>T (p.His213=)	CPAMD8-related disorder [RCV003936414]\|not provided [RCV002923268]	benign\|likely benign	19	17004307	17004307	Human	1	name , trait , alternate_id
155940520	CV2110684	single nucleotide variant	NM_015692.5(CPAMD8):c.888C>T (p.Phe296=)	not provided [RCV002904437]	benign	19	16997318	16997318	Human		name
156153286	CV2121649	single nucleotide variant	NM_015692.5(CPAMD8):c.327G>A (p.Ala109=)	not provided [RCV002928974]	likely benign	19	17011698	17011698	Human		name
156389538	CV2122322	single nucleotide variant	NM_015692.5(CPAMD8):c.873C>T (p.Leu291=)	not provided [RCV002943756]	benign	19	16997333	16997333	Human		name
156073176	CV2325417	single nucleotide variant	NM_015692.5(CPAMD8):c.73G>C (p.Ala25Pro)	Inborn genetic diseases [RCV002925736]	uncertain significance	19	17026570	17026570	Human	1	name
401879491	CV2785165	single nucleotide variant	NM_015692.5(CPAMD8):c.67G>A (p.Val23Met)	Inborn genetic diseases [RCV003384679]	uncertain significance	19	17026576	17026576	Human	1	name
405165464	CV2905693	single nucleotide variant	NM_015692.5(CPAMD8):c.453C>T (p.Thr151=)	not provided [RCV003562632]	likely benign	19	17011497	17011497	Human		name
405205981	CV2913342	single nucleotide variant	NM_015692.5(CPAMD8):c.978C>T (p.Asp326=)	not provided [RCV003566507]	benign	19	16997228	16997228	Human		name
405280534	CV3195541	single nucleotide variant	NM_015692.5(CPAMD8):c.849T>G (p.Pro283=)	CPAMD8-related disorder [RCV003906786]	likely benign	19	17000432	17000432	Human		name , trait , alternate_id
405290015	CV3214027	single nucleotide variant	NM_015692.5(CPAMD8):c.789C>T (p.Ala263=)	CPAMD8-related disorder [RCV003926872]	likely benign	19	17000492	17000492	Human		name , trait , alternate_id
405686049	CV3235836	single nucleotide variant	NM_015692.5(CPAMD8):c.64G>C (p.Gly22Arg)	Inborn genetic diseases [RCV004372350]	uncertain significance	19	17026579	17026579	Human	1	name
405686069	CV3235840	single nucleotide variant	NM_015692.5(CPAMD8):c.95G>T (p.Gly32Val)	Inborn genetic diseases [RCV004372354]	uncertain significance	19	17022179	17022179	Human	1	name
598264933	CV3945153	single nucleotide variant	NM_015692.5(CPAMD8):c.31C>T (p.Pro11Ser)	Inborn genetic diseases [RCV005326230]	uncertain significance	19	17026612	17026612	Human	1	name
8636671	CV91896	single nucleotide variant	NM_015692.2(CPAMD8):c.627G>A (p.Lys209=)	Malignant melanoma [RCV000071994]	not provided	19	17011464	17011464	Human		name
126738250	CV1018524	single nucleotide variant	NM_015692.5(CPAMD8):c.173G>T (p.Arg58Met)	Anterior segment dysgenesis 8 [RCV001328921]\|Inborn genetic diseases [RCV002546288]\|not provided [RCV002546287]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	17022101	17022101	Human	2	name
150444001	CV1216569	single nucleotide variant	NM_015692.5(CPAMD8):c.1296T>C (p.Pro432=)	CPAMD8-related disorder [RCV003983996]\|not provided [RCV001610868]	benign	19	16989742	16989742	Human	1	name , trait , alternate_id
150489149	CV1237600	single nucleotide variant	NM_015692.5(CPAMD8):c.1524A>C (p.Arg508=)	CPAMD8-related disorder [RCV003980865]\|not provided [RCV001654449]	benign	19	16980558	16980558	Human	1	name , trait , alternate_id
150489593	CV1238971	single nucleotide variant	NM_015692.5(CPAMD8):c.2820C>G (p.Thr940=)	not provided [RCV001654539]	benign	19	16938420	16938420	Human		name
150469328	CV1243139	single nucleotide variant	NM_015692.5(CPAMD8):c.1113C>T (p.Pro371=)	not provided [RCV001650658]	benign	19	16993569	16993569	Human		name
150471184	CV1248173	single nucleotide variant	NM_015692.5(CPAMD8):c.2805C>T (p.Val935=)	CPAMD8-related disorder [RCV003975861]\|not provided [RCV001671210]	benign	19	16938435	16938435	Human	1	name , trait , alternate_id
150439424	CV1266769	single nucleotide variant	NM_015692.5(CPAMD8):c.2124C>T (p.Asp708=)	not provided [RCV001690204]	benign	19	16970980	16970980	Human		name
152119875	CV1547297	single nucleotide variant	NM_015692.5(CPAMD8):c.2382C>T (p.Ala794=)	not provided [RCV002081406]	likely benign	19	16952095	16952095	Human		name
155998555	CV1872625	single nucleotide variant	NM_015692.5(CPAMD8):c.125G>A (p.Arg42His)	not provided [RCV003076468]	uncertain significance	19	17022149	17022149	Human		name
156411370	CV1893145	single nucleotide variant	NM_015692.5(CPAMD8):c.1491G>C (p.Ser497=)	not provided [RCV003072451]	benign\|likely benign	19	16980591	16980591	Human		name
156410006	CV1932082	single nucleotide variant	NM_015692.5(CPAMD8):c.2932C>A (p.Arg978=)	not provided [RCV002607729]	likely benign	19	16929154	16929154	Human		name
156390125	CV1980227	single nucleotide variant	NM_015692.5(CPAMD8):c.2736C>T (p.His912=)	not provided [RCV002634907]	likely benign	19	16945606	16945606	Human		name
156116758	CV2017029	single nucleotide variant	NM_015692.5(CPAMD8):c.2274C>A (p.Ile758=)	not provided [RCV002740044]	likely benign	19	16957855	16957855	Human		name
156293582	CV2073355	single nucleotide variant	NM_015692.5(CPAMD8):c.1851C>T (p.Ala617=)	not provided [RCV002833304]	benign	19	16976059	16976059	Human		name
156124520	CV2090026	single nucleotide variant	NM_015692.5(CPAMD8):c.1551G>A (p.Glu517=)	not provided [RCV002889697]	likely benign	19	16980531	16980531	Human		name
155979828	CV2101624	single nucleotide variant	NM_015692.5(CPAMD8):c.2796G>A (p.Ala932=)	not provided [RCV002907649]	benign	19	16938444	16938444	Human		name
156224646	CV2103652	single nucleotide variant	NM_015692.5(CPAMD8):c.182C>T (p.Thr61Met)	CPAMD8-related disorder [RCV003936370]\|not provided [RCV002918706]	benign	19	17022092	17022092	Human	1	name , trait , alternate_id
156308841	CV2109366	single nucleotide variant	NM_015692.5(CPAMD8):c.215C>T (p.Pro72Leu)	not provided [RCV002922957]	benign	19	17022059	17022059	Human		name
155934070	CV2113988	single nucleotide variant	NM_015692.5(CPAMD8):c.2679C>T (p.Tyr893=)	not provided [RCV002904005]	benign\|likely benign	19	16945663	16945663	Human		name
156227097	CV2121859	single nucleotide variant	NM_015692.5(CPAMD8):c.1848C>T (p.Val616=)	not provided [RCV002958367]	likely benign	19	16976062	16976062	Human		name
156389523	CV2122321	single nucleotide variant	NM_015692.5(CPAMD8):c.1182C>T (p.Tyr394=)	not provided [RCV002943755]	benign	19	16993500	16993500	Human		name
156120941	CV2128523	single nucleotide variant	NM_015692.5(CPAMD8):c.1557G>A (p.Pro519=)	not provided [RCV002953494]	likely benign	19	16980525	16980525	Human		name
156206170	CV2297937	single nucleotide variant	NM_015692.5(CPAMD8):c.128C>T (p.Ala43Val)	Inborn genetic diseases [RCV002875155]	uncertain significance	19	17022146	17022146	Human	1	name
156344620	CV2346149	single nucleotide variant	NM_015692.5(CPAMD8):c.109G>A (p.Ala37Thr)	Inborn genetic diseases [RCV002965726]	uncertain significance	19	17022165	17022165	Human	1	name
155960954	CV2390788	single nucleotide variant	NM_015692.5(CPAMD8):c.151G>A (p.Val51Met)	Inborn genetic diseases [RCV002753997]	uncertain significance	19	17022123	17022123	Human	1	name
401731520	CV2701405	single nucleotide variant	NM_015692.5(CPAMD8):c.139G>A (p.Glu47Lys)	Inborn genetic diseases [RCV003271758]	uncertain significance	19	17022135	17022135	Human	1	name
401738468	CV2711902	single nucleotide variant	NM_015692.5(CPAMD8):c.173G>A (p.Arg58Lys)	Inborn genetic diseases [RCV003291888]	uncertain significance	19	17022101	17022101	Human	1	name
401937114	CV2811795	single nucleotide variant	NM_015692.5(CPAMD8):c.2994C>T (p.Ile998=)	not provided [RCV003415134]	likely benign	19	16929092	16929092	Human		name
401937115	CV2811797	single nucleotide variant	NM_015692.5(CPAMD8):c.2436C>T (p.Pro812=)	CPAMD8-related disorder [RCV003908914]\|not provided [RCV003415135]	likely benign	19	16952041	16952041	Human	1	name , trait , alternate_id
405238353	CV2891377	single nucleotide variant	NM_015692.5(CPAMD8):c.2658C>T (p.Ile886=)	not provided [RCV003556848]	likely benign	19	16947078	16947078	Human		name
405225062	CV2989466	single nucleotide variant	NM_015692.5(CPAMD8):c.2154C>G (p.Pro718=)	not provided [RCV003681283]	likely benign	19	16970950	16970950	Human		name
405106861	CV3136111	single nucleotide variant	NM_015692.5(CPAMD8):c.2139C>T (p.Thr713=)	not provided [RCV003835457]	likely benign	19	16970965	16970965	Human		name
405251790	CV3181352	single nucleotide variant	NM_015692.5(CPAMD8):c.1833C>A (p.Gly611=)	not provided [RCV003870354]	likely benign	19	16976077	16976077	Human		name
405265984	CV3215779	single nucleotide variant	NM_015692.5(CPAMD8):c.124C>T (p.Arg42Cys)	CPAMD8-related disorder [RCV003946935]\|Inborn genetic diseases [RCV005323632]	likely benign\|uncertain significance	19	17022150	17022150	Human	2	name , trait , alternate_id
405686171	CV3235860	single nucleotide variant	NM_015692.5(CPAMD8):c.275C>T (p.Thr92Met)	Inborn genetic diseases [RCV004372374]	uncertain significance	19	17011750	17011750	Human	1	name
407457052	CV3419562	single nucleotide variant	NM_015692.5(CPAMD8):c.212A>G (p.Glu71Gly)	Inborn genetic diseases [RCV004610956]	uncertain significance	19	17022062	17022062	Human	1	name
597664177	CV3650953	single nucleotide variant	NM_015692.5(CPAMD8):c.293C>G (p.Ala98Gly)	Inborn genetic diseases [RCV004979114]	uncertain significance	19	17011732	17011732	Human	1	name
597664263	CV3650969	single nucleotide variant	NM_015692.5(CPAMD8):c.190G>C (p.Ala64Pro)	Inborn genetic diseases [RCV004979131]	uncertain significance	19	17022084	17022084	Human	1	name
597869157	CV3764578	single nucleotide variant	NM_015692.5(CPAMD8):c.2622C>T (p.Val874=)	not provided [RCV005107378]	likely benign	19	16947114	16947114	Human		name
597952360	CV3843757	single nucleotide variant	NM_015692.5(CPAMD8):c.2511G>A (p.Val837=)	not provided [RCV005190619]	likely benign	19	16947225	16947225	Human		name
598235292	CV3945162	single nucleotide variant	NM_015692.5(CPAMD8):c.284G>A (p.Arg95Gln)	Inborn genetic diseases [RCV005320226]	uncertain significance	19	17011741	17011741	Human	1	name
598235349	CV3945172	single nucleotide variant	NM_015692.5(CPAMD8):c.293C>T (p.Ala98Val)	Inborn genetic diseases [RCV005320236]	uncertain significance	19	17011732	17011732	Human	1	name
15152639	CV716264	single nucleotide variant	NM_015692.5(CPAMD8):c.2826C>T (p.Ser942=)	not provided [RCV000968391]	benign	19	16938414	16938414	Human		name
15173131	CV716265	single nucleotide variant	NM_015692.5(CPAMD8):c.1845C>T (p.Cys615=)	not provided [RCV000972553]	likely benign	19	16976065	16976065	Human		name
15120291	CV716266	single nucleotide variant	NM_015692.5(CPAMD8):c.1713C>T (p.Val571=)	not provided [RCV000962698]	benign	19	16977413	16977413	Human		name
15114202	CV716267	single nucleotide variant	NM_015692.5(CPAMD8):c.1536G>A (p.Ala512=)	CPAMD8-related disorder [RCV003926162]\|not provided [RCV000961631]	benign	19	16980546	16980546	Human	1	name , trait , alternate_id
15176598	CV716268	single nucleotide variant	NM_015692.5(CPAMD8):c.1116T>C (p.Asp372=)	CPAMD8-related disorder [RCV003972945]\|not provided [RCV000973223]	likely benign	19	16993566	16993566	Human	1	name , trait , alternate_id
15188708	CV728010	single nucleotide variant	NM_015692.5(CPAMD8):c.2385G>A (p.Glu795=)	not provided [RCV000887615]	benign	19	16952092	16952092	Human		name
15174508	CV728011	single nucleotide variant	NM_015692.5(CPAMD8):c.2244C>T (p.Pro748=)	CPAMD8-related disorder [RCV003910438]\|not provided [RCV000884146]	benign	19	16957885	16957885	Human	1	name , trait , alternate_id
15180632	CV741686	single nucleotide variant	NM_015692.5(CPAMD8):c.2529T>C (p.Val843=)	CPAMD8-related disorder [RCV003910852]\|not provided [RCV000907400]	likely benign	19	16947207	16947207	Human	1	name , trait , alternate_id
15150531	CV741687	single nucleotide variant	NM_015692.5(CPAMD8):c.2346C>T (p.Ala782=)	not provided [RCV000901174]	likely benign	19	16952131	16952131	Human		name
15173645	CV741688	single nucleotide variant	NM_015692.5(CPAMD8):c.1794T>A (p.Pro598=)	not provided [RCV000905874]	likely benign	19	16976116	16976116	Human		name
15149455	CV756803	single nucleotide variant	NM_015692.5(CPAMD8):c.1716C>T (p.Ala572=)	not provided [RCV000923289]	likely benign	19	16977410	16977410	Human		name
15189835	CV772511	single nucleotide variant	NM_015692.5(CPAMD8):c.1899T>A (p.Thr633=)	not provided [RCV000932353]	likely benign	19	16976011	16976011	Human		name
126741653	CV1021834	single nucleotide variant	NM_015692.5(CPAMD8):c.5658A>G (p.Ter1886=)	Anterior segment dysgenesis 8 [RCV001336308]	pathogenic	19	16893108	16893108	Human		name
126741651	CV1021835	deletion	NM_015692.5(CPAMD8):c.2532del (p.Lys845fs)	Anterior segment dysgenesis 8 [RCV001336307]	pathogenic	19	16947204	16947204	Human		name
150500719	CV1213211	deletion	NM_015692.5(CPAMD8):c.4470+176_4470+194del	not provided [RCV001594623]	benign	19	16903367	16903385	Human		name
150508882	CV1214157	single nucleotide variant	NM_015692.5(CPAMD8):c.794T>C (p.Met265Thr)	CPAMD8-related disorder [RCV003983994]\|not provided [RCV001596678]	benign	19	17000487	17000487	Human	1	name , trait , alternate_id
150508843	CV1229744	single nucleotide variant	NM_015692.5(CPAMD8):c.994G>A (p.Ala332Thr)	CPAMD8-related disorder [RCV003980830]\|not provided [RCV001636323]	benign	19	16997212	16997212	Human	1	name , trait , alternate_id
150484097	CV1247067	single nucleotide variant	NM_015692.5(CPAMD8):c.881G>A (p.Arg294Gln)	CPAMD8-related disorder [RCV003975863]\|not provided [RCV001673563]	benign	19	16997325	16997325	Human	1	name , trait , alternate_id
150459153	CV1248625	single nucleotide variant	NM_015692.5(CPAMD8):c.4989C>G (p.Thr1663=)	not provided [RCV001669235]	benign	19	16897767	16897767	Human		name
150447196	CV1250791	single nucleotide variant	NM_015692.5(CPAMD8):c.751C>T (p.Arg251Trp)	not provided [RCV001667296]	benign	19	17002273	17002273	Human		name
150497758	CV1271395	single nucleotide variant	NM_015692.5(CPAMD8):c.963G>A (p.Met321Ile)	CPAMD8-related disorder [RCV003976021]\|not provided [RCV001689085]	benign	19	16997243	16997243	Human	1	name , trait , alternate_id
150454139	CV1276948	single nucleotide variant	NM_015692.5(CPAMD8):c.922G>A (p.Val308Ile)	not provided [RCV001708739]	benign	19	16997284	16997284	Human		name
150508929	CV1284407	deletion	NM_015692.5(CPAMD8):c.2214-180_2214-174del	not provided [RCV001720515]	benign	19	16958089	16958095	Human		name
150542026	CV1302460	single nucleotide variant	NM_015692.5(CPAMD8):c.730G>A (p.Ala244Thr)	not provided [RCV001761150]	uncertain significance	19	17002294	17002294	Human		name
152112395	CV1604229	single nucleotide variant	NM_015692.5(CPAMD8):c.5349G>A (p.Gln1783=)	CPAMD8-related disorder [RCV003941263]\|not provided [RCV002097031]	benign\|likely benign	19	16896253	16896253	Human	1	name , trait , alternate_id
152122765	CV1632061	single nucleotide variant	NM_015692.5(CPAMD8):c.521G>A (p.Arg174Gln)	not provided [RCV002118056]	benign	19	17008543	17008543	Human		name
155644663	CV1708734	duplication	NM_015692.5(CPAMD8):c.1691dup (p.Arg565fs)	Abnormal anterior eye segment morphology [RCV002291330]	likely pathogenic	19	16977434	16977435	Human	2	name
156070555	CV1893392	single nucleotide variant	NM_015692.5(CPAMD8):c.3705C>T (p.Ala1235=)	not provided [RCV003079524]	benign	19	16914738	16914738	Human		name
156271392	CV1970957	deletion	NM_015692.5(CPAMD8):c.1881del (p.Arg627fs)	not provided [RCV002598103]	pathogenic	19	16976029	16976029	Human		name
155940256	CV2071576	single nucleotide variant	NM_015692.5(CPAMD8):c.880C>T (p.Arg294Trp)	not provided [RCV002861727]	benign	19	16997326	16997326	Human		name
156108575	CV2096593	single nucleotide variant	NM_015692.5(CPAMD8):c.4926A>T (p.Pro1642=)	CPAMD8-related disorder [RCV003926507]\|not provided [RCV002913685]	benign\|likely benign	19	16897917	16897917	Human	1	name , trait , alternate_id
156182176	CV2102508	single nucleotide variant	NM_015692.5(CPAMD8):c.3375C>T (p.Asp1125=)	not provided [RCV002917176]	likely benign	19	16925368	16925368	Human		name
155945749	CV2111599	single nucleotide variant	NM_015692.5(CPAMD8):c.3756C>T (p.Ala1252=)	not provided [RCV002904751]	likely benign	19	16914687	16914687	Human		name
156139143	CV2116510	single nucleotide variant	NM_015692.5(CPAMD8):c.5166G>C (p.Pro1722=)	not provided [RCV002914840]	benign	19	16896565	16896565	Human		name
156041519	CV2117792	single nucleotide variant	NM_015692.5(CPAMD8):c.451A>G (p.Thr151Ala)	Inborn genetic diseases [RCV002923935]\|not provided [RCV002942977]	uncertain significance	19	17011499	17011499	Human	1	name
156361311	CV2119492	single nucleotide variant	NM_015692.5(CPAMD8):c.4563G>A (p.Pro1521=)	not provided [RCV002966999]	likely benign	19	16902771	16902771	Human		name
156221173	CV2144150	single nucleotide variant	NM_015692.5(CPAMD8):c.512G>A (p.Arg171Gln)	Inborn genetic diseases [RCV004614305]\|not provided [RCV003007386]	uncertain significance	19	17008552	17008552	Human	1	name
156023171	CV2145430	single nucleotide variant	NM_015692.5(CPAMD8):c.962T>C (p.Met321Thr)	not provided [RCV003018328]	uncertain significance	19	16997244	16997244	Human		name
156277921	CV2209973	single nucleotide variant	NM_015692.5(CPAMD8):c.530A>G (p.Glu177Gly)	Inborn genetic diseases [RCV002669967]\|not provided [RCV003669327]	benign\|uncertain significance	19	17008534	17008534	Human	1	name
156095394	CV2210175	single nucleotide variant	NM_015692.5(CPAMD8):c.641C>G (p.Ala214Gly)	Inborn genetic diseases [RCV002661616]	uncertain significance	19	17004305	17004305	Human	1	name
156037988	CV2218715	single nucleotide variant	NM_015692.5(CPAMD8):c.902G>A (p.Arg301Lys)	Inborn genetic diseases [RCV002692057]	likely benign	19	16997304	16997304	Human	1	name
156248676	CV2222021	single nucleotide variant	NM_015692.5(CPAMD8):c.715A>G (p.Ile239Val)	Inborn genetic diseases [RCV002713837]	uncertain significance	19	17002309	17002309	Human	1	name
156334100	CV2230867	single nucleotide variant	NM_015692.5(CPAMD8):c.314G>A (p.Arg105His)	Inborn genetic diseases [RCV002718346]	uncertain significance	19	17011711	17011711	Human	1	name
155959901	CV2252636	single nucleotide variant	NM_015692.5(CPAMD8):c.926C>G (p.Pro309Arg)	Inborn genetic diseases [RCV002816730]	uncertain significance	19	16997280	16997280	Human	1	name
156217219	CV2253845	single nucleotide variant	NM_015692.5(CPAMD8):c.685T>C (p.Phe229Leu)	Inborn genetic diseases [RCV002804483]	uncertain significance	19	17002339	17002339	Human	1	name
155901145	CV2275331	single nucleotide variant	NM_015692.5(CPAMD8):c.467T>G (p.Leu156Arg)	Inborn genetic diseases [RCV002836518]	uncertain significance	19	17011483	17011483	Human	1	name
156101407	CV2313481	single nucleotide variant	NM_015692.5(CPAMD8):c.814G>T (p.Gly272Cys)	Inborn genetic diseases [RCV002888653]	uncertain significance	19	17000467	17000467	Human	1	name
156333890	CV2333304	single nucleotide variant	NM_015692.5(CPAMD8):c.721G>A (p.Asp241Asn)	Inborn genetic diseases [RCV002964499]\|not provided [RCV005242348]	uncertain significance	19	17002303	17002303	Human	1	name
156226099	CV2352711	single nucleotide variant	NM_015692.5(CPAMD8):c.874G>A (p.Gly292Ser)	Inborn genetic diseases [RCV002986454]	uncertain significance	19	16997332	16997332	Human	1	name
156402781	CV2371608	single nucleotide variant	NM_015692.5(CPAMD8):c.641C>T (p.Ala214Val)	Inborn genetic diseases [RCV002657627]	likely benign	19	17004305	17004305	Human	1	name
155969648	CV2400776	single nucleotide variant	NM_015692.5(CPAMD8):c.917C>T (p.Ala306Val)	Inborn genetic diseases [RCV002754767]	uncertain significance	19	16997289	16997289	Human	1	name
329392705	CV2439130	single nucleotide variant	NM_015692.5(CPAMD8):c.702C>A (p.Asp234Glu)	Inborn genetic diseases [RCV003192799]	uncertain significance	19	17002322	17002322	Human	1	name
329388957	CV2469657	single nucleotide variant	NM_015692.5(CPAMD8):c.844C>T (p.Arg282Cys)	Inborn genetic diseases [RCV003216034]	uncertain significance	19	17000437	17000437	Human	1	name
401732962	CV2702310	single nucleotide variant	NM_015692.5(CPAMD8):c.971G>C (p.Ser324Thr)	Inborn genetic diseases [RCV003272185]	uncertain significance	19	16997235	16997235	Human	1	name
401893317	CV2756546	single nucleotide variant	NM_015692.5(CPAMD8):c.707C>T (p.Pro236Leu)	Inborn genetic diseases [RCV003370640]	uncertain significance	19	17002317	17002317	Human	1	name
401887527	CV2773484	single nucleotide variant	NM_015692.5(CPAMD8):c.316G>A (p.Gly106Ser)	Inborn genetic diseases [RCV003367216]	uncertain significance	19	17011709	17011709	Human	1	name
401868712	CV2782005	single nucleotide variant	NM_015692.5(CPAMD8):c.589G>A (p.Asp197Asn)	Inborn genetic diseases [RCV003360535]	uncertain significance	19	17004357	17004357	Human	1	name
401908569	CV2811790	single nucleotide variant	NM_015692.5(CPAMD8):c.4620C>T (p.Asp1540=)	not provided [RCV003423431]	likely benign	19	16902714	16902714	Human		name
401937112	CV2811791	single nucleotide variant	NM_015692.5(CPAMD8):c.3978G>A (p.Pro1326=)	not provided [RCV003415132]	likely benign	19	16907001	16907001	Human		name
401908570	CV2811792	single nucleotide variant	NM_015692.5(CPAMD8):c.3621G>A (p.Gly1207=)	not provided [RCV003423432]	likely benign	19	16921913	16921913	Human		name
401908572	CV2811793	single nucleotide variant	NM_015692.5(CPAMD8):c.3036C>T (p.Ile1012=)	not provided [RCV003423433]	likely benign	19	16929050	16929050	Human		name
401937113	CV2811794	single nucleotide variant	NM_015692.5(CPAMD8):c.3004C>T (p.Leu1002=)	not provided [RCV003415133]	likely benign	19	16929082	16929082	Human		name
405239902	CV2882691	single nucleotide variant	NM_015692.5(CPAMD8):c.3309C>T (p.Phe1103=)	not provided [RCV003557181]	likely benign	19	16928070	16928070	Human		name
402480294	CV2910920	single nucleotide variant	NM_015692.5(CPAMD8):c.3423G>A (p.Pro1141=)	not provided [RCV003572005]	likely benign	19	16925320	16925320	Human		name
402472442	CV2912194	single nucleotide variant	NM_015692.5(CPAMD8):c.3237C>T (p.Thr1079=)	not provided [RCV003570741]	likely benign	19	16928142	16928142	Human		name
405236860	CV3072698	single nucleotide variant	NM_015692.5(CPAMD8):c.959C>T (p.Ala320Val)	not provided [RCV003736047]	likely benign\|conflicting interpretations of pathogenicity	19	16997247	16997247	Human		name
405062533	CV3129560	single nucleotide variant	NM_015692.5(CPAMD8):c.5004C>T (p.Ala1668=)	not provided [RCV003832829]	likely benign	19	16897752	16897752	Human		name
405044133	CV3141532	single nucleotide variant	NM_015692.5(CPAMD8):c.4260C>T (p.Cys1420=)	not provided [RCV003831633]	likely benign	19	16903849	16903849	Human		name
405282887	CV3218406	single nucleotide variant	NM_015692.5(CPAMD8):c.3415C>A (p.Arg1139=)	CPAMD8-related disorder [RCV003957213]	likely benign	19	16925328	16925328	Human		name , trait , alternate_id
405686190	CV3235863	single nucleotide variant	NM_015692.5(CPAMD8):c.313C>A (p.Arg105Ser)	Inborn genetic diseases [RCV004372377]	uncertain significance	19	17011712	17011712	Human	1	name
405686215	CV3235867	single nucleotide variant	NM_015692.5(CPAMD8):c.367G>A (p.Val123Met)	Inborn genetic diseases [RCV004372381]	uncertain significance	19	17011658	17011658	Human	1	name
405686220	CV3235868	single nucleotide variant	NM_015692.5(CPAMD8):c.401C>T (p.Thr134Met)	Inborn genetic diseases [RCV004372382]	uncertain significance	19	17011624	17011624	Human	1	name
405686241	CV3235872	single nucleotide variant	NM_015692.5(CPAMD8):c.589G>C (p.Asp197His)	Inborn genetic diseases [RCV004372386]	uncertain significance	19	17004357	17004357	Human	1	name
405686245	CV3235873	single nucleotide variant	NM_015692.5(CPAMD8):c.709C>T (p.Arg237Trp)	Inborn genetic diseases [RCV004372387]	uncertain significance	19	17002315	17002315	Human	1	name
405854693	CV3394364	single nucleotide variant	NM_015692.5(CPAMD8):c.534G>A (p.Trp178Ter)	Anterior segment dysgenesis 8 [RCV004549016]	likely pathogenic	19	17008530	17008530	Human	1	name
407457118	CV3419561	single nucleotide variant	NM_015692.5(CPAMD8):c.548C>T (p.Pro183Leu)	Inborn genetic diseases [RCV004610955]	uncertain significance	19	17008516	17008516	Human	1	name
407456938	CV3419564	single nucleotide variant	NM_015692.5(CPAMD8):c.898G>A (p.Val300Met)	Inborn genetic diseases [RCV004610958]	uncertain significance	19	16997308	16997308	Human	1	name
596946862	CV3548696	single nucleotide variant	NM_015692.5(CPAMD8):c.343T>A (p.Phe115Ile)	not provided [RCV004810524]	uncertain significance	19	17011682	17011682	Human		name
12743334	CV362086	duplication	NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs)	Anterior segment dysgenesis 8 [RCV000416324]\|not provided [RCV003229831]	pathogenic	19	16970892	16970893	Human	1	name
597664110	CV3650943	single nucleotide variant	NM_015692.5(CPAMD8):c.346C>T (p.His116Tyr)	Inborn genetic diseases [RCV004979104]\|not provided [RCV005061683]	uncertain significance	19	17011679	17011679	Human	1	name
597664128	CV3650946	single nucleotide variant	NM_015692.5(CPAMD8):c.888C>A (p.Phe296Leu)	Inborn genetic diseases [RCV004979107]	uncertain significance	19	16997318	16997318	Human	1	name
597664150	CV3650949	single nucleotide variant	NM_015692.5(CPAMD8):c.326C>T (p.Ala109Val)	Inborn genetic diseases [RCV004979110]	uncertain significance	19	17011699	17011699	Human	1	name
597664657	CV3650956	single nucleotide variant	NM_015692.5(CPAMD8):c.379G>T (p.Gly127Cys)	Inborn genetic diseases [RCV004979117]	uncertain significance	19	17011646	17011646	Human	1	name
597664666	CV3650958	single nucleotide variant	NM_015692.5(CPAMD8):c.485A>C (p.Lys162Thr)	Inborn genetic diseases [RCV004979119]	uncertain significance	19	17011465	17011465	Human	1	name
597860218	CV3748649	single nucleotide variant	NM_015692.5(CPAMD8):c.4638C>A (p.Ala1546=)	not provided [RCV005067281]	likely benign	19	16902696	16902696	Human		name
598235260	CV3945154	single nucleotide variant	NM_015692.5(CPAMD8):c.979G>A (p.Gly327Arg)	Inborn genetic diseases [RCV005320219]	uncertain significance	19	16997227	16997227	Human	1	name
15169243	CV704843	single nucleotide variant	NM_015692.5(CPAMD8):c.964G>A (p.Val322Met)	not provided [RCV000949419]	benign	19	16997242	16997242	Human		name
15097990	CV704844	single nucleotide variant	NM_015692.5(CPAMD8):c.889G>A (p.Asp297Asn)	CPAMD8-related disorder [RCV003905784]\|not provided [RCV000958447]	benign	19	16997317	16997317	Human	1	name , trait , alternate_id
15190415	CV728008	single nucleotide variant	NM_015692.5(CPAMD8):c.4455C>T (p.Gly1485=)	not provided [RCV000888091]	benign	19	16903576	16903576	Human		name
15113692	CV728009	single nucleotide variant	NM_015692.5(CPAMD8):c.4383C>T (p.Asn1461=)	not provided [RCV000894713]	likely benign	19	16903726	16903726	Human		name
15123082	CV741684	single nucleotide variant	NM_015692.5(CPAMD8):c.3822C>T (p.Tyr1274=)	CPAMD8-related disorder [RCV003922876]\|not provided [RCV000896350]	likely benign	19	16914463	16914463	Human	1	name , trait , alternate_id
15187888	CV741689	single nucleotide variant	NM_015692.5(CPAMD8):c.808G>A (p.Val270Ile)	CPAMD8-related disorder [RCV003968365]\|not provided [RCV000909213]	benign\|likely benign	19	17000473	17000473	Human	1	name , trait , alternate_id
15134673	CV741690	single nucleotide variant	NM_015692.5(CPAMD8):c.382G>A (p.Ala128Thr)	not provided [RCV000898331]	likely benign	19	17011643	17011643	Human		name
15150758	CV756804	single nucleotide variant	NM_015692.5(CPAMD8):c.412G>T (p.Val138Leu)	not provided [RCV000923536]	benign	19	17011613	17011613	Human		name
8636668	CV91893	single nucleotide variant	NM_015692.2(CPAMD8):c.3141C>T (p.Ile1047=)	Malignant melanoma [RCV000071991]	not provided	19	16929086	16929086	Human		name
8636670	CV91895	single nucleotide variant	NM_015692.5(CPAMD8):c.938G>A (p.Arg313Gln)	Inborn genetic diseases [RCV004979122]	uncertain significance\|not provided	19	16997268	16997268	Human	1	name
126738246	CV1018523	single nucleotide variant	NM_015692.5(CPAMD8):c.1916A>G (p.Gln639Arg)	Anterior segment dysgenesis 8 [RCV001328920]	uncertain significance	19	16975251	16975251	Human	1	name
126741648	CV1021836	single nucleotide variant	NM_015692.5(CPAMD8):c.2514C>A (p.Tyr838Ter)	Anterior segment dysgenesis 8 [RCV001336306]	pathogenic	19	16947222	16947222	Human		name
150330970	CV1173200	single nucleotide variant	NM_015692.5(CPAMD8):c.1511C>T (p.Thr504Ile)	CPAMD8-related disorder [RCV003931167]\|not provided [RCV001538400]	benign	19	16980571	16980571	Human	1	name , trait , alternate_id
150434734	CV1215963	single nucleotide variant	NM_015692.5(CPAMD8):c.2207C>A (p.Pro736His)	CPAMD8-related disorder [RCV003980776]\|not provided [RCV001609152]	benign	19	16970897	16970897	Human	1	name , trait , alternate_id
150450818	CV1232723	single nucleotide variant	NM_015692.5(CPAMD8):c.1617C>A (p.Asp539Glu)	CPAMD8-related disorder [RCV003980842]\|not provided [RCV001647798]	benign	19	16977509	16977509	Human	1	name , trait , alternate_id
150468297	CV1257033	single nucleotide variant	NM_015692.5(CPAMD8):c.1637A>G (p.His546Arg)	CPAMD8-related disorder [RCV003975921]\|not provided [RCV001670679]	benign	19	16977489	16977489	Human	1	name , trait , alternate_id
152121046	CV1662127	single nucleotide variant	NM_015692.5(CPAMD8):c.1740G>C (p.Glu580Asp)	CPAMD8-related disorder [RCV003978704]\|not provided [RCV002117856]	benign	19	16977386	16977386	Human	1	name , trait , alternate_id
156413961	CV1901930	single nucleotide variant	NM_015692.5(CPAMD8):c.2075C>T (p.Thr692Met)	Inborn genetic diseases [RCV004978584]\|not provided [RCV003073518]	uncertain significance	19	16971029	16971029	Human	1	name
156232625	CV1956081	single nucleotide variant	NM_015692.5(CPAMD8):c.1615G>A (p.Asp539Asn)	not provided [RCV002575933]	uncertain significance	19	16977511	16977511	Human		name
156374905	CV1963475	single nucleotide variant	NM_015692.5(CPAMD8):c.1909G>A (p.Val637Ile)	not provided [RCV002582722]	uncertain significance	19	16975258	16975258	Human		name
156335843	CV1988285	single nucleotide variant	NM_015692.5(CPAMD8):c.2638G>A (p.Asp880Asn)	not provided [RCV002631181]	uncertain significance	19	16947098	16947098	Human		name
156008625	CV2011312	single nucleotide variant	NM_015692.5(CPAMD8):c.2385G>T (p.Glu795Asp)	not provided [RCV002690392]	uncertain significance	19	16952092	16952092	Human		name
156310344	CV2076243	single nucleotide variant	NM_015692.5(CPAMD8):c.1298T>A (p.Val433Glu)	CPAMD8-related disorder [RCV003926452]\|not provided [RCV002857624]	benign	19	16989740	16989740	Human	2	name , trait , alternate_id
156310344	CV2076243	single nucleotide variant	NM_015692.5(CPAMD8):c.1298T>A (p.Val433Glu)	CPAMD8-related disorder [RCV003926452]\|not provided [RCV002857624]	benign	19	16989740	16989741	Human	2	name , trait , alternate_id
155986363	CV2091144	single nucleotide variant	NM_015692.5(CPAMD8):c.2899C>T (p.Pro967Ser)	not provided [RCV002907944]	likely benign	19	16929187	16929187	Human		name
156041735	CV2094154	single nucleotide variant	NM_015692.5(CPAMD8):c.1253A>G (p.His418Arg)	CPAMD8-related disorder [RCV003916556]\|not provided [RCV002885837]	benign	19	16993429	16993429	Human	1	name , trait , alternate_id
155982496	CV2098220	single nucleotide variant	NM_015692.5(CPAMD8):c.2503G>A (p.Ala835Thr)	not provided [RCV002907774]	benign	19	16951974	16951974	Human		name
156083087	CV2098780	single nucleotide variant	NM_015692.5(CPAMD8):c.2467A>G (p.Ile823Val)	not provided [RCV002912767]	benign	19	16952010	16952010	Human		name
156019433	CV2110883	single nucleotide variant	NM_015692.5(CPAMD8):c.1846G>A (p.Val616Ile)	not provided [RCV002909540]	uncertain significance	19	16976064	16976064	Human		name
156226319	CV2121825	single nucleotide variant	NM_015692.5(CPAMD8):c.2807C>T (p.Pro936Leu)	not provided [RCV002958339]	likely benign	19	16938433	16938433	Human		name
155999181	CV2122762	single nucleotide variant	NM_015692.5(CPAMD8):c.2950C>T (p.Arg984Cys)	Inborn genetic diseases [RCV002975099]\|not provided [RCV002954382]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	16929136	16929136	Human	1	name
156244986	CV2126346	single nucleotide variant	NM_015692.5(CPAMD8):c.1468G>A (p.Ala490Thr)	Inborn genetic diseases [RCV002959005]\|not provided [RCV002966895]	uncertain significance	19	16980614	16980614	Human	1	name
156119955	CV2128479	single nucleotide variant	NM_015692.5(CPAMD8):c.2586G>T (p.Met862Ile)	Inborn genetic diseases [RCV004068020]\|not provided [RCV002953458]	uncertain significance	19	16947150	16947150	Human	1	name
155962158	CV2131951	single nucleotide variant	NM_015692.5(CPAMD8):c.2002C>T (p.Arg668Ter)	not provided [RCV002995210]	pathogenic	19	16975165	16975165	Human		name
155988291	CV2133348	single nucleotide variant	NM_015692.5(CPAMD8):c.2956G>A (p.Ala986Thr)	not provided [RCV002996442]	uncertain significance	19	16929130	16929130	Human		name
155984231	CV2136753	single nucleotide variant	NM_015692.5(CPAMD8):c.1954G>A (p.Val652Met)	not provided [RCV002996250]	benign	19	16975213	16975213	Human		name
156231989	CV2199704	single nucleotide variant	NM_015692.5(CPAMD8):c.1714G>A (p.Ala572Thr)	Inborn genetic diseases [RCV002645013]	uncertain significance	19	16977412	16977412	Human	1	name
156175804	CV2205276	single nucleotide variant	NM_015692.5(CPAMD8):c.2699G>A (p.Arg900Gln)	Inborn genetic diseases [RCV002665002]	uncertain significance	19	16945643	16945643	Human	1	name
156029150	CV2205934	single nucleotide variant	NM_015692.5(CPAMD8):c.1213G>A (p.Val405Met)	Inborn genetic diseases [RCV002691446]	uncertain significance	19	16993469	16993469	Human	1	name
155941689	CV2229261	single nucleotide variant	NM_015692.5(CPAMD8):c.2903T>C (p.Leu968Pro)	Inborn genetic diseases [RCV002752017]	uncertain significance	19	16929183	16929183	Human	1	name
156141376	CV2243807	single nucleotide variant	NM_015692.5(CPAMD8):c.1318A>G (p.Ser440Gly)	Inborn genetic diseases [RCV002763553]	uncertain significance	19	16989720	16989720	Human	1	name
156164085	CV2246744	single nucleotide variant	NM_015692.5(CPAMD8):c.1183A>G (p.Thr395Ala)	Inborn genetic diseases [RCV002787671]	uncertain significance	19	16993499	16993499	Human	1	name
156220479	CV2254153	single nucleotide variant	NM_015692.5(CPAMD8):c.2495G>A (p.Gly832Asp)	Inborn genetic diseases [RCV002804697]	uncertain significance	19	16951982	16951982	Human	1	name
155954814	CV2274382	single nucleotide variant	NM_015692.5(CPAMD8):c.1560T>G (p.Ile520Met)	Inborn genetic diseases [RCV002840731]	uncertain significance	19	16980522	16980522	Human	1	name
156264258	CV2282644	single nucleotide variant	NM_015692.5(CPAMD8):c.2774G>C (p.Arg925Thr)	Inborn genetic diseases [RCV002831906]	uncertain significance	19	16945568	16945568	Human	1	name
156017885	CV2302656	single nucleotide variant	NM_015692.5(CPAMD8):c.1852G>A (p.Ala618Thr)	Inborn genetic diseases [RCV002884713]	uncertain significance	19	16976058	16976058	Human	1	name
156294637	CV2302973	single nucleotide variant	NM_015692.5(CPAMD8):c.2660C>A (p.Thr887Lys)	Inborn genetic diseases [RCV002897429]	uncertain significance	19	16947076	16947076	Human	1	name
156053530	CV2312470	single nucleotide variant	NM_015692.5(CPAMD8):c.1019A>G (p.Gln340Arg)	Inborn genetic diseases [RCV002911348]	uncertain significance	19	16997187	16997187	Human	1	name
155931002	CV2362418	single nucleotide variant	NM_015692.5(CPAMD8):c.2905C>T (p.Arg969Cys)	Inborn genetic diseases [RCV002993277]	uncertain significance	19	16929181	16929181	Human	1	name
155927859	CV2365997	single nucleotide variant	NM_015692.5(CPAMD8):c.2294G>C (p.Gly765Ala)	Inborn genetic diseases [RCV002992862]\|not provided [RCV004695693]	uncertain significance	19	16952183	16952183	Human	1	name
156382523	CV2367307	single nucleotide variant	NM_015692.5(CPAMD8):c.2071G>A (p.Glu691Lys)	Inborn genetic diseases [RCV002678983]	uncertain significance	19	16971033	16971033	Human	1	name
156387089	CV2372630	single nucleotide variant	NM_015692.5(CPAMD8):c.1532G>T (p.Arg511Leu)	Inborn genetic diseases [RCV002680004]	uncertain significance	19	16980550	16980550	Human	1	name
155999296	CV2373399	single nucleotide variant	NM_015692.5(CPAMD8):c.1628C>T (p.Thr543Ile)	Inborn genetic diseases [RCV002689909]	uncertain significance	19	16977498	16977498	Human	1	name
156391670	CV2382489	single nucleotide variant	NM_015692.5(CPAMD8):c.1501C>T (p.Pro501Ser)	Inborn genetic diseases [RCV002724893]	uncertain significance	19	16980581	16980581	Human	1	name
156052069	CV2391296	single nucleotide variant	NM_015692.5(CPAMD8):c.1015G>T (p.Val339Leu)	Inborn genetic diseases [RCV002759407]	uncertain significance	19	16997191	16997191	Human	1	name
156161436	CV2398272	single nucleotide variant	NM_015692.5(CPAMD8):c.1531C>T (p.Arg511Trp)	Inborn genetic diseases [RCV002764742]	uncertain significance	19	16980551	16980551	Human	1	name
156224767	CV2399500	single nucleotide variant	NM_015692.5(CPAMD8):c.2315C>T (p.Pro772Leu)	Inborn genetic diseases [RCV002804969]	uncertain significance	19	16952162	16952162	Human	1	name
156195958	CV2400564	single nucleotide variant	NM_015692.5(CPAMD8):c.1892G>C (p.Arg631Pro)	Inborn genetic diseases [RCV002789466]\|not provided [RCV003420537]	uncertain significance	19	16976018	16976018	Human	1	name
243056952	CV2414881	single nucleotide variant	NM_015692.5(CPAMD8):c.1994C>T (p.Thr665Met)	Anterior segment dysgenesis 8 [RCV003145867]\|Inborn genetic diseases [RCV005323399]	likely benign\|uncertain significance	19	16975173	16975173	Human	2	name
329384259	CV2435006	single nucleotide variant	NM_015692.5(CPAMD8):c.2009G>A (p.Arg670Gln)	Inborn genetic diseases [RCV003188994]	uncertain significance	19	16975158	16975158	Human	1	name
329399028	CV2439242	single nucleotide variant	NM_015692.5(CPAMD8):c.2776C>T (p.Arg926Cys)	Inborn genetic diseases [RCV003196426]	uncertain significance	19	16945566	16945566	Human	1	name
329376126	CV2465156	single nucleotide variant	NM_015692.5(CPAMD8):c.2321C>T (p.Ser774Phe)	Inborn genetic diseases [RCV003211404]	uncertain significance	19	16952156	16952156	Human	1	name
329393270	CV2469239	single nucleotide variant	NM_015692.5(CPAMD8):c.1027C>G (p.Leu343Val)	Inborn genetic diseases [RCV003218101]	uncertain significance	19	16997179	16997179	Human	1	name
401752139	CV2682715	single nucleotide variant	NM_015692.5(CPAMD8):c.1717G>A (p.Asp573Asn)	Inborn genetic diseases [RCV003254229]	uncertain significance	19	16977409	16977409	Human	1	name
401740536	CV2684381	single nucleotide variant	NM_015692.5(CPAMD8):c.1472G>A (p.Arg491Gln)	Inborn genetic diseases [RCV003240686]	uncertain significance	19	16980610	16980610	Human	1	name
401728411	CV2686066	single nucleotide variant	NM_015692.5(CPAMD8):c.1814G>A (p.Arg605Gln)	Inborn genetic diseases [RCV003270593]	uncertain significance	19	16976096	16976096	Human	1	name
401773661	CV2695320	single nucleotide variant	NM_015692.5(CPAMD8):c.2777G>T (p.Arg926Leu)	Inborn genetic diseases [RCV003285477]	uncertain significance	19	16945565	16945565	Human	1	name
401783007	CV2703711	single nucleotide variant	NM_015692.5(CPAMD8):c.1958C>A (p.Ser653Tyr)	Inborn genetic diseases [RCV003266059]	uncertain significance	19	16975209	16975209	Human	1	name
401751043	CV2715847	single nucleotide variant	NM_015692.5(CPAMD8):c.2995G>A (p.Glu999Lys)	Inborn genetic diseases [RCV003295382]	uncertain significance	19	16929091	16929091	Human	1	name
401774580	CV2728203	single nucleotide variant	NM_015692.5(CPAMD8):c.1288G>A (p.Gly430Arg)	Inborn genetic diseases [RCV003305328]	uncertain significance	19	16989750	16989750	Human	1	name
401728766	CV2729795	single nucleotide variant	NM_015692.5(CPAMD8):c.1618G>A (p.Val540Met)	Inborn genetic diseases [RCV003288702]	uncertain significance	19	16977508	16977508	Human	1	name
401865794	CV2755640	single nucleotide variant	NM_015692.5(CPAMD8):c.1123C>A (p.Pro375Thr)	Inborn genetic diseases [RCV003344736]	uncertain significance	19	16993559	16993559	Human	1	name
401871426	CV2763724	single nucleotide variant	NM_015692.5(CPAMD8):c.1535C>T (p.Ala512Val)	Inborn genetic diseases [RCV003361508]	uncertain significance	19	16980547	16980547	Human	1	name
401856074	CV2764326	single nucleotide variant	NM_015692.5(CPAMD8):c.2850A>C (p.Arg950Ser)	Inborn genetic diseases [RCV003340201]\|not provided [RCV003777507]	uncertain significance	19	16929236	16929236	Human	1	name
401896070	CV2777413	single nucleotide variant	NM_015692.5(CPAMD8):c.1631C>T (p.Ser544Phe)	Inborn genetic diseases [RCV003373674]	uncertain significance	19	16977495	16977495	Human	1	name
401920546	CV2804105	deletion	NM_015692.5(CPAMD8):c.3724del (p.Gln1242fs)	CPAMD8-related disorder [RCV003402668]	likely pathogenic	19	16914719	16914719	Human		name , trait , alternate_id
401928587	CV2811796	single nucleotide variant	NM_015692.5(CPAMD8):c.2498C>A (p.Thr833Asn)	not provided [RCV003406894]	likely benign	19	16951979	16951979	Human		name
402479497	CV2853331	single nucleotide variant	NM_015692.5(CPAMD8):c.2066T>C (p.Phe689Ser)	Anterior segment dysgenesis 8 [RCV003494527]	uncertain significance	19	16975101	16975101	Human	1	name
405020190	CV2866253	single nucleotide variant	NM_015692.5(CPAMD8):c.1205G>A (p.Arg402His)	Inborn genetic diseases [RCV004614448]\|not provided [RCV003577505]	uncertain significance	19	16993477	16993477	Human	1	name
402477462	CV2914179	single nucleotide variant	NM_015692.5(CPAMD8):c.1015G>A (p.Val339Met)	not provided [RCV003571587]	likely benign	19	16997191	16997191	Human		name
405082174	CV3016991	indel	NM_015692.5(CPAMD8):c.3787-4_3787-3delinsAT	not provided [RCV003699127]	uncertain significance	19	16914501	16914502	Human		name
405060028	CV3029864	single nucleotide variant	NM_015692.5(CPAMD8):c.2777G>A (p.Arg926His)	not provided [RCV003697613]	benign	19	16945565	16945565	Human		name
405140572	CV3045432	single nucleotide variant	NM_015692.5(CPAMD8):c.2599G>A (p.Gly867Arg)	not provided [RCV003725519]	likely benign	19	16947137	16947137	Human		name
405225984	CV3142452	single nucleotide variant	NM_015692.5(CPAMD8):c.2183T>A (p.Val728Glu)	not provided [RCV003847991]	uncertain significance	19	16970921	16970921	Human		name
405268946	CV3199109	single nucleotide variant	NM_015692.5(CPAMD8):c.2209C>G (p.Pro737Ala)	CPAMD8-related disorder [RCV003912213]	likely benign	19	16970895	16970895	Human		name , trait , alternate_id
405686029	CV3235832	single nucleotide variant	NM_015692.5(CPAMD8):c.1187G>A (p.Ser396Asn)	Inborn genetic diseases [RCV004372346]	uncertain significance	19	16993495	16993495	Human	1	name
405686034	CV3235833	single nucleotide variant	NM_015692.5(CPAMD8):c.1255G>A (p.Val419Met)	Inborn genetic diseases [RCV004372347]	uncertain significance	19	16993427	16993427	Human	1	name
405686040	CV3235834	single nucleotide variant	NM_015692.5(CPAMD8):c.1352G>A (p.Ser451Asn)	Inborn genetic diseases [RCV004372348]	uncertain significance	19	16989686	16989686	Human	1	name
405686044	CV3235835	single nucleotide variant	NM_015692.5(CPAMD8):c.1750G>C (p.Glu584Gln)	Inborn genetic diseases [RCV004372349]	uncertain significance	19	16977376	16977376	Human	1	name
405686059	CV3235838	single nucleotide variant	NM_015692.5(CPAMD8):c.2006G>A (p.Arg669His)	Inborn genetic diseases [RCV004372352]	uncertain significance	19	16975161	16975161	Human	1	name
405686074	CV3235841	single nucleotide variant	NM_015692.5(CPAMD8):c.2566C>T (p.Arg856Cys)	Inborn genetic diseases [RCV004372355]	uncertain significance	19	16947170	16947170	Human	1	name
405686079	CV3235842	single nucleotide variant	NM_015692.5(CPAMD8):c.2687C>G (p.Thr896Arg)	Inborn genetic diseases [RCV004372356]	uncertain significance	19	16945655	16945655	Human	1	name
405686084	CV3235843	single nucleotide variant	NM_015692.5(CPAMD8):c.2726A>G (p.Glu909Gly)	Inborn genetic diseases [RCV004372357]	uncertain significance	19	16945616	16945616	Human	1	name
405686086	CV3235844	single nucleotide variant	NM_015692.5(CPAMD8):c.2753C>T (p.Pro918Leu)	Inborn genetic diseases [RCV004372358]	uncertain significance	19	16945589	16945589	Human	1	name
405686091	CV3235845	single nucleotide variant	NM_015692.5(CPAMD8):c.2770G>A (p.Val924Ile)	Inborn genetic diseases [RCV004372359]	likely benign	19	16945572	16945572	Human	1	name
405686097	CV3235846	single nucleotide variant	NM_015692.5(CPAMD8):c.2827G>A (p.Ala943Thr)	Inborn genetic diseases [RCV004372360]	uncertain significance	19	16938413	16938413	Human	1	name
405686101	CV3235847	single nucleotide variant	NM_015692.5(CPAMD8):c.2896C>T (p.Arg966Trp)	Inborn genetic diseases [RCV004372361]	uncertain significance	19	16929190	16929190	Human	1	name
405686108	CV3235848	single nucleotide variant	NM_015692.5(CPAMD8):c.2914C>T (p.Arg972Cys)	Inborn genetic diseases [RCV004372362]	uncertain significance	19	16929172	16929172	Human	1	name
405686113	CV3235849	single nucleotide variant	NM_015692.5(CPAMD8):c.2941A>C (p.Asn981His)	Inborn genetic diseases [RCV004372363]	uncertain significance	19	16929145	16929145	Human	1	name
407427053	CV3409262	single nucleotide variant	NM_015692.5(CPAMD8):c.2932C>T (p.Arg978Ter)	Anterior segment dysgenesis 8 [RCV004585194]	likely pathogenic	19	16929154	16929154	Human	1	name
407457212	CV3419556	single nucleotide variant	NM_015692.5(CPAMD8):c.1297G>A (p.Val433Met)	Inborn genetic diseases [RCV004610950]	uncertain significance	19	16989741	16989741	Human	1	name
407457206	CV3419559	single nucleotide variant	NM_015692.5(CPAMD8):c.1039C>T (p.Arg347Trp)	Inborn genetic diseases [RCV004610953]	uncertain significance	19	16997167	16997167	Human	1	name
407456944	CV3419570	single nucleotide variant	NM_015692.5(CPAMD8):c.1176C>A (p.Asn392Lys)	Inborn genetic diseases [RCV004610964]	uncertain significance	19	16993506	16993506	Human	1	name
407456946	CV3419571	single nucleotide variant	NM_015692.5(CPAMD8):c.2450G>A (p.Arg817His)	Inborn genetic diseases [RCV004610965]	uncertain significance	19	16952027	16952027	Human	1	name
407456953	CV3419574	single nucleotide variant	NM_015692.5(CPAMD8):c.1765G>A (p.Val589Met)	Inborn genetic diseases [RCV004610968]	uncertain significance	19	16976145	16976145	Human	1	name
407456955	CV3419575	single nucleotide variant	NM_015692.5(CPAMD8):c.2078G>A (p.Gly693Glu)	Inborn genetic diseases [RCV004610969]	uncertain significance	19	16971026	16971026	Human	1	name
408394173	CV3521763	deletion	NM_015692.5(CPAMD8):c.4396del (p.Gln1466fs)	Anterior segment dysgenesis 8 [RCV004764562]	likely pathogenic	19	16903713	16903713	Human	1	name
596947924	CV3547514	single nucleotide variant	NM_015692.5(CPAMD8):c.2609A>G (p.Glu870Gly)	not provided [RCV004811818]	likely benign	19	16947127	16947127	Human		name
597664106	CV3650942	single nucleotide variant	NM_015692.5(CPAMD8):c.2647C>T (p.Leu883Phe)	Inborn genetic diseases [RCV004979103]	uncertain significance	19	16947089	16947089	Human	1	name
597664125	CV3650945	single nucleotide variant	NM_015692.5(CPAMD8):c.2176A>G (p.Ser726Gly)	Inborn genetic diseases [RCV004979106]	uncertain significance	19	16970928	16970928	Human	1	name
597664143	CV3650948	single nucleotide variant	NM_015692.5(CPAMD8):c.1518G>C (p.Gln506His)	Inborn genetic diseases [RCV004979109]	uncertain significance	19	16980564	16980564	Human	1	name
597664156	CV3650950	single nucleotide variant	NM_015692.5(CPAMD8):c.2825G>A (p.Ser942Asn)	Inborn genetic diseases [RCV004979111]	uncertain significance	19	16938415	16938415	Human	1	name
597664163	CV3650951	single nucleotide variant	NM_015692.5(CPAMD8):c.1475G>A (p.Gly492Asp)	Inborn genetic diseases [RCV004979112]	uncertain significance	19	16980607	16980607	Human	1	name
597664182	CV3650954	single nucleotide variant	NM_015692.5(CPAMD8):c.1255G>T (p.Val419Leu)	Inborn genetic diseases [RCV004979115]	uncertain significance	19	16993427	16993427	Human	1	name
597664210	CV3650959	single nucleotide variant	NM_015692.5(CPAMD8):c.1772A>T (p.Tyr591Phe)	Inborn genetic diseases [RCV004979120]	uncertain significance	19	16976138	16976138	Human	1	name
597664217	CV3650960	single nucleotide variant	NM_015692.5(CPAMD8):c.2692T>G (p.Cys898Gly)	Inborn genetic diseases [RCV004979121]	uncertain significance	19	16945650	16945650	Human	1	name
597664233	CV3650963	single nucleotide variant	NM_015692.5(CPAMD8):c.1297G>C (p.Val433Leu)	Inborn genetic diseases [RCV004979125]	uncertain significance	19	16989741	16989741	Human	1	name
597664254	CV3650967	single nucleotide variant	NM_015692.5(CPAMD8):c.1346C>G (p.Ser449Cys)	Inborn genetic diseases [RCV004979129]	uncertain significance	19	16989692	16989692	Human	1	name
597664270	CV3650970	single nucleotide variant	NM_015692.5(CPAMD8):c.1984G>A (p.Ala662Thr)	Inborn genetic diseases [RCV004979132]	uncertain significance	19	16975183	16975183	Human	1	name
597970097	CV3791830	single nucleotide variant	NM_015692.5(CPAMD8):c.2660C>T (p.Thr887Met)	not provided [RCV005141647]	uncertain significance	19	16947076	16947076	Human		name
598235223	CV3945144	single nucleotide variant	NM_015692.5(CPAMD8):c.2003G>A (p.Arg668Gln)	Inborn genetic diseases [RCV005320211]	uncertain significance	19	16975164	16975164	Human	1	name
598235238	CV3945147	single nucleotide variant	NM_015692.5(CPAMD8):c.2449C>T (p.Arg817Cys)	Inborn genetic diseases [RCV005320214]	uncertain significance	19	16952028	16952028	Human	1	name
598235246	CV3945150	single nucleotide variant	NM_015692.5(CPAMD8):c.2759G>A (p.Gly920Glu)	Inborn genetic diseases [RCV005320216]	uncertain significance	19	16945583	16945583	Human	1	name
598235249	CV3945151	single nucleotide variant	NM_015692.5(CPAMD8):c.1087G>A (p.Val363Met)	Inborn genetic diseases [RCV005320217]	uncertain significance	19	16997119	16997119	Human	1	name
598235254	CV3945152	single nucleotide variant	NM_015692.5(CPAMD8):c.2279A>G (p.Asp760Gly)	Inborn genetic diseases [RCV005320218]	uncertain significance	19	16952198	16952198	Human	1	name
598235273	CV3945157	single nucleotide variant	NM_015692.5(CPAMD8):c.2699G>T (p.Arg900Leu)	Inborn genetic diseases [RCV005320222]	uncertain significance	19	16945643	16945643	Human	1	name
598235279	CV3945158	single nucleotide variant	NM_015692.5(CPAMD8):c.2525C>T (p.Ser842Leu)	Inborn genetic diseases [RCV005320223]	uncertain significance	19	16947211	16947211	Human	1	name
598235305	CV3945164	single nucleotide variant	NM_015692.5(CPAMD8):c.2152C>T (p.Pro718Ser)	Inborn genetic diseases [RCV005320228]	uncertain significance	19	16970952	16970952	Human	1	name
598235327	CV3945168	single nucleotide variant	NM_015692.5(CPAMD8):c.1556C>T (p.Pro519Leu)	Inborn genetic diseases [RCV005320232]	likely benign	19	16980526	16980526	Human	1	name
598235334	CV3945169	single nucleotide variant	NM_015692.5(CPAMD8):c.1996G>A (p.Ala666Thr)	Inborn genetic diseases [RCV005320233]	uncertain significance	19	16975171	16975171	Human	1	name
598235353	CV3945173	single nucleotide variant	NM_015692.5(CPAMD8):c.2847G>C (p.Glu949Asp)	Inborn genetic diseases [RCV005320237]	uncertain significance	19	16929239	16929239	Human	1	name
598235367	CV3945176	single nucleotide variant	NM_015692.5(CPAMD8):c.2338G>T (p.Gly780Cys)	Inborn genetic diseases [RCV005320240]	uncertain significance	19	16952139	16952139	Human	1	name
598235384	CV3945180	single nucleotide variant	NM_015692.5(CPAMD8):c.1866T>G (p.Ser622Arg)	Inborn genetic diseases [RCV005320244]	uncertain significance	19	16976044	16976044	Human	1	name
598235391	CV3945181	single nucleotide variant	NM_015692.5(CPAMD8):c.1402G>A (p.Glu468Lys)	Inborn genetic diseases [RCV005320245]	uncertain significance	19	16980680	16980680	Human	1	name
15170770	CV728012	single nucleotide variant	NM_015692.5(CPAMD8):c.2097C>A (p.Asp699Glu)	not provided [RCV000883531]	benign	19	16971007	16971007	Human		name
8636669	CV91894	single nucleotide variant	NM_015692.2(CPAMD8):c.1774C>T (p.Leu592Phe)	Malignant melanoma [RCV000071992]	not provided	19	16977493	16977493	Human		name
126730608	CV986102	single nucleotide variant	NM_015692.5(CPAMD8):c.1689C>A (p.Tyr563Ter)	not provided [RCV003015459]	pathogenic	19	16977437	16977437	Human		name
150498994	CV1224513	single nucleotide variant	NM_015692.5(CPAMD8):c.3466G>A (p.Val1156Ile)	CPAMD8-related disorder [RCV003984013]\|not provided [RCV001620344]	benign	19	16925277	16925277	Human	1	name , trait , alternate_id
150510840	CV1229269	single nucleotide variant	NM_015692.5(CPAMD8):c.5528A>G (p.Gln1843Arg)	not provided [RCV001637197]	benign	19	16893238	16893238	Human		name
150491478	CV1239285	single nucleotide variant	NM_015692.5(CPAMD8):c.5179G>A (p.Asp1727Asn)	not provided [RCV001654853]	benign	19	16896552	16896552	Human		name
150503427	CV1257793	single nucleotide variant	NM_015692.5(CPAMD8):c.3911C>T (p.Ala1304Val)	not provided [RCV001677481]	benign	19	16907068	16907068	Human		name
150496357	CV1272870	single nucleotide variant	NM_015692.5(CPAMD8):c.3803C>T (p.Thr1268Ile)	CPAMD8-related disorder [RCV003976004]\|not provided [RCV001688793]	benign	19	16914482	16914482	Human	1	name , trait , alternate_id
151822941	CV1448354	single nucleotide variant	NM_015692.5(CPAMD8):c.5461G>A (p.Gly1821Arg)	Inborn genetic diseases [RCV002562158]\|See cases [RCV002287515]\|not provided [RCV001934321]	uncertain significance	19	16893305	16893305	Human	1	name
153302029	CV1688031	single nucleotide variant	NM_015692.5(CPAMD8):c.3861G>C (p.Glu1287Asp)	not provided [RCV002265257]	uncertain significance	19	16914424	16914424	Human		name
156296294	CV1888661	single nucleotide variant	NM_015692.5(CPAMD8):c.5342C>G (p.Pro1781Arg)	CPAMD8-related disorder [RCV003906479]\|not provided [RCV003061677]	benign\|likely benign	19	16896260	16896260	Human	1	name , trait , alternate_id
156365866	CV1908448	single nucleotide variant	NM_015692.5(CPAMD8):c.5545G>T (p.Val1849Leu)	not provided [RCV002582059]	uncertain significance	19	16893221	16893221	Human		name
156207996	CV1913322	single nucleotide variant	NM_015692.5(CPAMD8):c.3001G>A (p.Val1001Ile)	not provided [RCV002595958]	uncertain significance	19	16929085	16929085	Human		name
156027843	CV1918960	single nucleotide variant	NM_015692.5(CPAMD8):c.3809C>T (p.Pro1270Leu)	Inborn genetic diseases [RCV004978691]\|not provided [RCV002637026]	uncertain significance	19	16914476	16914476	Human	1	name
156393358	CV1965147	deletion	NM_015692.5(CPAMD8):c.114_117del (p.Ser39fs)	not provided [RCV002584095]	pathogenic	19	17022157	17022160	Human		name
156356085	CV2001482	single nucleotide variant	NM_015692.5(CPAMD8):c.4945T>C (p.Tyr1649His)	not provided [RCV002675933]	uncertain significance	19	16897898	16897898	Human		name
156393063	CV2006146	single nucleotide variant	NM_015692.5(CPAMD8):c.5086G>A (p.Gly1696Ser)	not provided [RCV002680956]	uncertain significance	19	16896645	16896645	Human		name
155956709	CV2010479	single nucleotide variant	NM_015692.5(CPAMD8):c.3773A>T (p.Asn1258Ile)	not provided [RCV002686303]	uncertain significance	19	16914670	16914670	Human		name
156329942	CV2094722	single nucleotide variant	NM_015692.5(CPAMD8):c.3127C>A (p.Arg1043Ser)	not provided [RCV002899861]	uncertain significance	19	16928959	16928959	Human		name
156002308	CV2103405	single nucleotide variant	NM_015692.5(CPAMD8):c.5164C>A (p.Pro1722Thr)	not provided [RCV002908692]	benign	19	16896567	16896567	Human		name
156356298	CV2126082	single nucleotide variant	NM_015692.5(CPAMD8):c.4024C>T (p.Arg1342Ter)	not provided [RCV002966688]	pathogenic	19	16906955	16906955	Human		name
156032112	CV2126663	single nucleotide variant	NM_015692.5(CPAMD8):c.4562C>T (p.Pro1521Leu)	Inborn genetic diseases [RCV004068274]\|not provided [RCV002949274]	uncertain significance	19	16902772	16902772	Human	1	name
156369777	CV2194086	single nucleotide variant	NM_015692.5(CPAMD8):c.3008G>C (p.Gly1003Ala)	Inborn genetic diseases [RCV002652636]	uncertain significance	19	16929078	16929078	Human	1	name
156374372	CV2198423	single nucleotide variant	NM_015692.5(CPAMD8):c.5144A>T (p.Asp1715Val)	Inborn genetic diseases [RCV002677399]	uncertain significance	19	16896587	16896587	Human	1	name
156063254	CV2199877	single nucleotide variant	NM_015692.5(CPAMD8):c.4066G>A (p.Val1356Met)	Inborn genetic diseases [RCV002659806]	likely benign	19	16904514	16904514	Human	1	name
156337711	CV2224842	single nucleotide variant	NM_015692.5(CPAMD8):c.4650C>G (p.His1550Gln)	Inborn genetic diseases [RCV002718748]	uncertain significance	19	16902684	16902684	Human	1	name
156382292	CV2227283	single nucleotide variant	NM_015692.5(CPAMD8):c.4102G>T (p.Val1368Phe)	CPAMD8-related disorder [RCV004731496]\|Inborn genetic diseases [RCV002722749]	likely benign\|uncertain significance	19	16904478	16904478	Human	2	name , trait , alternate_id
11039563	CV223038	single nucleotide variant	NM_015692.5(CPAMD8):c.4015G>A (p.Ala1339Thr)	Breast ductal adenocarcinoma [RCV000207116]	likely pathogenic\|uncertain significance	19	16906964	16906964	Human	2	name
156358877	CV2260853	single nucleotide variant	NM_015692.5(CPAMD8):c.3956C>T (p.Ala1319Val)	Inborn genetic diseases [RCV002812512]	likely benign	19	16907023	16907023	Human	1	name
156065727	CV2270722	single nucleotide variant	NM_015692.5(CPAMD8):c.4528G>A (p.Val1510Ile)	Inborn genetic diseases [RCV002823163]	uncertain significance	19	16902806	16902806	Human	1	name
156283224	CV2288882	single nucleotide variant	NM_015692.5(CPAMD8):c.3328G>A (p.Gly1110Ser)	Inborn genetic diseases [RCV002878333]	likely benign	19	16928051	16928051	Human	1	name
156072093	CV2295939	single nucleotide variant	NM_015692.5(CPAMD8):c.3416G>A (p.Arg1139Gln)	Inborn genetic diseases [RCV002868765]	uncertain significance	19	16925327	16925327	Human	1	name
156242547	CV2306562	single nucleotide variant	NM_015692.5(CPAMD8):c.4759G>A (p.Glu1587Lys)	Inborn genetic diseases [RCV002919412]	uncertain significance	19	16901224	16901224	Human	1	name
155965546	CV2308518	single nucleotide variant	NM_015692.5(CPAMD8):c.4206G>T (p.Trp1402Cys)	Inborn genetic diseases [RCV002906441]	uncertain significance	19	16904271	16904271	Human	1	name
155967152	CV2312681	single nucleotide variant	NM_015692.5(CPAMD8):c.3319G>T (p.Val1107Phe)	Inborn genetic diseases [RCV002906589]	uncertain significance	19	16928060	16928060	Human	1	name
156347745	CV2315427	single nucleotide variant	NM_015692.5(CPAMD8):c.5152G>A (p.Ala1718Thr)	Inborn genetic diseases [RCV002939396]	uncertain significance	19	16896579	16896579	Human	1	name
156159325	CV2322729	single nucleotide variant	NM_015692.5(CPAMD8):c.3928C>T (p.Pro1310Ser)	Inborn genetic diseases [RCV002955151]	uncertain significance	19	16907051	16907051	Human	1	name
156162082	CV2323507	single nucleotide variant	NM_015692.5(CPAMD8):c.3170A>G (p.Asn1057Ser)	Inborn genetic diseases [RCV002929334]	uncertain significance	19	16928209	16928209	Human	1	name
156333053	CV2335922	single nucleotide variant	NM_015692.5(CPAMD8):c.5443C>T (p.Arg1815Trp)	Inborn genetic diseases [RCV002964404]	uncertain significance	19	16893323	16893323	Human	1	name
156221853	CV2343891	single nucleotide variant	NM_015692.5(CPAMD8):c.5306C>T (p.Thr1769Ile)	Inborn genetic diseases [RCV002986190]	uncertain significance	19	16896296	16896296	Human	1	name
155984649	CV2344843	single nucleotide variant	NM_015692.5(CPAMD8):c.5543G>A (p.Arg1848Gln)	Inborn genetic diseases [RCV002946981]	uncertain significance	19	16893223	16893223	Human	1	name
156282302	CV2348847	single nucleotide variant	NM_015692.5(CPAMD8):c.3682G>A (p.Val1228Met)	Inborn genetic diseases [RCV002989461]	uncertain significance	19	16914761	16914761	Human	1	name
156031715	CV2376397	single nucleotide variant	NM_015692.5(CPAMD8):c.5458A>G (p.Ser1820Gly)	Inborn genetic diseases [RCV002703704]	uncertain significance	19	16893308	16893308	Human	1	name
156151029	CV2377525	single nucleotide variant	NM_015692.5(CPAMD8):c.3659C>T (p.Ala1220Val)	Inborn genetic diseases [RCV002709658]	uncertain significance	19	16914784	16914784	Human	1	name
155953558	CV2379037	single nucleotide variant	NM_015692.5(CPAMD8):c.5587G>A (p.Val1863Ile)	Inborn genetic diseases [RCV002753295]	likely benign	19	16893179	16893179	Human	1	name
156204788	CV2385113	single nucleotide variant	NM_015692.5(CPAMD8):c.5073C>G (p.Phe1691Leu)	Inborn genetic diseases [RCV002743678]	uncertain significance	19	16896658	16896658	Human	1	name
155905060	CV2385674	single nucleotide variant	NM_015692.5(CPAMD8):c.3292A>T (p.Ser1098Cys)	Inborn genetic diseases [RCV002749315]	uncertain significance	19	16928087	16928087	Human	1	name
329400674	CV2438644	single nucleotide variant	NM_015692.5(CPAMD8):c.3415C>T (p.Arg1139Trp)	Inborn genetic diseases [RCV003197674]	uncertain significance	19	16925328	16925328	Human	1	name
329366834	CV2441923	single nucleotide variant	NM_015692.5(CPAMD8):c.4220G>A (p.Arg1407Gln)	Inborn genetic diseases [RCV003207972]	uncertain significance	19	16904257	16904257	Human	1	name
329360481	CV2458777	single nucleotide variant	NM_015692.5(CPAMD8):c.3251T>C (p.Met1084Thr)	Inborn genetic diseases [RCV003205024]	uncertain significance	19	16928128	16928128	Human	1	name
329376033	CV2467469	single nucleotide variant	NM_015692.5(CPAMD8):c.4547A>G (p.Glu1516Gly)	Inborn genetic diseases [RCV003211365]	uncertain significance	19	16902787	16902787	Human	1	name
329394299	CV2469800	single nucleotide variant	NM_015692.5(CPAMD8):c.5579C>T (p.Pro1860Leu)	Inborn genetic diseases [RCV003218723]	likely benign	19	16893187	16893187	Human	1	name
329847393	CV2524228	single nucleotide variant	NM_015692.5(CPAMD8):c.5521G>A (p.Ala1841Thr)	not provided [RCV003227120]	uncertain significance	19	16893245	16893245	Human		name
401752467	CV2707019	single nucleotide variant	NM_015692.5(CPAMD8):c.3620G>C (p.Gly1207Ala)	Inborn genetic diseases [RCV003277369]	uncertain significance	19	16921914	16921914	Human	1	name
401757653	CV2707896	single nucleotide variant	NM_015692.5(CPAMD8):c.3119T>C (p.Ile1040Thr)	Inborn genetic diseases [RCV003256120]	uncertain significance	19	16928967	16928967	Human	1	name
401730320	CV2711203	single nucleotide variant	NM_015692.5(CPAMD8):c.4121C>T (p.Ser1374Leu)	Inborn genetic diseases [RCV003271319]	uncertain significance	19	16904356	16904356	Human	1	name
401775168	CV2713805	single nucleotide variant	NM_015692.5(CPAMD8):c.4324G>C (p.Val1442Leu)	Inborn genetic diseases [RCV003262803]	uncertain significance	19	16903785	16903785	Human	1	name
401783099	CV2716128	single nucleotide variant	NM_015692.5(CPAMD8):c.3523G>A (p.Glu1175Lys)	Inborn genetic diseases [RCV003309311]	uncertain significance	19	16925220	16925220	Human	1	name
401761369	CV2726736	single nucleotide variant	NM_015692.5(CPAMD8):c.3181A>T (p.Ile1061Phe)	Inborn genetic diseases [RCV003299825]	uncertain significance	19	16928198	16928198	Human	1	name
401728763	CV2729792	single nucleotide variant	NM_015692.5(CPAMD8):c.3706G>A (p.Ala1236Thr)	Inborn genetic diseases [RCV003288701]\|not provided [RCV003410340]	uncertain significance	19	16914737	16914737	Human	1	name
401856076	CV2764329	single nucleotide variant	NM_015692.5(CPAMD8):c.3971G>A (p.Arg1324His)	Inborn genetic diseases [RCV003340202]	uncertain significance	19	16907008	16907008	Human	1	name
401877172	CV2764524	single nucleotide variant	NM_015692.5(CPAMD8):c.4366G>A (p.Glu1456Lys)	Inborn genetic diseases [RCV003363431]	uncertain significance	19	16903743	16903743	Human	1	name
401874000	CV2773626	single nucleotide variant	NM_015692.5(CPAMD8):c.5383G>A (p.Val1795Met)	Inborn genetic diseases [RCV003362142]	uncertain significance	19	16896219	16896219	Human	1	name
401898869	CV2792069	single nucleotide variant	NM_015692.5(CPAMD8):c.4403C>A (p.Ala1468Glu)	Inborn genetic diseases [RCV003377028]	uncertain significance	19	16903706	16903706	Human	1	name
405173567	CV2864301	single nucleotide variant	NM_015692.5(CPAMD8):c.4660A>G (p.Lys1554Glu)	not provided [RCV003542192]	benign	19	16902674	16902674	Human		name
405133818	CV3018376	single nucleotide variant	NM_015692.5(CPAMD8):c.3589T>A (p.Tyr1197Asn)	CPAMD8-related disorder [RCV004731562]\|not provided [RCV003701929]	uncertain significance	19	16921945	16921945	Human	1	name , trait , alternate_id
405190644	CV3065210	single nucleotide variant	NM_015692.5(CPAMD8):c.4572G>T (p.Met1524Ile)	not provided [RCV003729567]	uncertain significance	19	16902762	16902762	Human		name
405281290	CV3190799	single nucleotide variant	NM_015692.5(CPAMD8):c.4489G>T (p.Val1497Leu)	CPAMD8-related disorder [RCV003907233]\|Inborn genetic diseases [RCV004369760]\|not provided [RCV005101660]	likely benign\|uncertain significance	19	16902845	16902845	Human	2	name , trait , alternate_id
405706464	CV3224839	single nucleotide variant	NM_015692.5(CPAMD8):c.4710T>A (p.Asn1570Lys)	Anterior segment dysgenesis 8 [RCV003990219]	uncertain significance	19	16901273	16901273	Human	1	name
405686119	CV3235850	single nucleotide variant	NM_015692.5(CPAMD8):c.3017A>G (p.Gln1006Arg)	Inborn genetic diseases [RCV004372364]	uncertain significance	19	16929069	16929069	Human	1	name
405686122	CV3235851	single nucleotide variant	NM_015692.5(CPAMD8):c.3137T>G (p.Leu1046Arg)	Inborn genetic diseases [RCV004372365]	likely benign	19	16928949	16928949	Human	1	name
405686127	CV3235852	single nucleotide variant	NM_015692.5(CPAMD8):c.3223A>T (p.Ile1075Phe)	Inborn genetic diseases [RCV004372366]	uncertain significance	19	16928156	16928156	Human	1	name
405686133	CV3235853	single nucleotide variant	NM_015692.5(CPAMD8):c.3289G>A (p.Glu1097Lys)	Inborn genetic diseases [RCV004372367]	uncertain significance	19	16928090	16928090	Human	1	name
405686140	CV3235854	single nucleotide variant	NM_015692.5(CPAMD8):c.3532G>A (p.Asp1178Asn)	Inborn genetic diseases [RCV004372368]	uncertain significance	19	16925211	16925211	Human	1	name
405686151	CV3235856	single nucleotide variant	NM_015692.5(CPAMD8):c.3757G>A (p.Val1253Met)	Inborn genetic diseases [RCV004372370]	uncertain significance	19	16914686	16914686	Human	1	name
405686155	CV3235857	single nucleotide variant	NM_015692.5(CPAMD8):c.3779A>G (p.Asp1260Gly)	Inborn genetic diseases [RCV004372371]	uncertain significance	19	16914664	16914664	Human	1	name
405686159	CV3235858	single nucleotide variant	NM_015692.5(CPAMD8):c.3799G>A (p.Gly1267Ser)	Inborn genetic diseases [RCV004372372]	uncertain significance	19	16914486	16914486	Human	1	name
405686164	CV3235859	single nucleotide variant	NM_015692.5(CPAMD8):c.3887C>T (p.Ala1296Val)	Inborn genetic diseases [RCV004372373]	uncertain significance	19	16907092	16907092	Human	1	name
405686176	CV3235861	single nucleotide variant	NM_015692.5(CPAMD8):c.4049T>C (p.Leu1350Pro)	Inborn genetic diseases [RCV004372375]	uncertain significance	19	16904531	16904531	Human	1	name
405686203	CV3235865	single nucleotide variant	NM_015692.5(CPAMD8):c.4520A>G (p.Gln1507Arg)	Inborn genetic diseases [RCV004372379]	uncertain significance	19	16902814	16902814	Human	1	name
405686209	CV3235866	single nucleotide variant	NM_015692.5(CPAMD8):c.4538A>G (p.Gln1513Arg)	Inborn genetic diseases [RCV004372380]	uncertain significance	19	16902796	16902796	Human	1	name
405686226	CV3235869	single nucleotide variant	NM_015692.5(CPAMD8):c.5335C>T (p.Pro1779Ser)	Inborn genetic diseases [RCV004372383]	uncertain significance	19	16896267	16896267	Human	1	name
405686230	CV3235870	single nucleotide variant	NM_015692.5(CPAMD8):c.5536A>G (p.Ser1846Gly)	Inborn genetic diseases [RCV004372384]	uncertain significance	19	16893230	16893230	Human	1	name
405854692	CV3394363	single nucleotide variant	NM_015692.5(CPAMD8):c.4825C>T (p.Arg1609Ter)	Anterior segment dysgenesis 8 [RCV004549015]	likely pathogenic	19	16899498	16899498	Human	1	name
407457214	CV3419555	single nucleotide variant	NM_015692.5(CPAMD8):c.4882C>A (p.Arg1628Ser)	Inborn genetic diseases [RCV004610949]	uncertain significance	19	16897961	16897961	Human	1	name
407457208	CV3419558	single nucleotide variant	NM_015692.5(CPAMD8):c.5228G>T (p.Arg1743Leu)	Inborn genetic diseases [RCV004610952]	uncertain significance	19	16896503	16896503	Human	1	name
407457204	CV3419560	single nucleotide variant	NM_015692.5(CPAMD8):c.3734A>G (p.Gln1245Arg)	Inborn genetic diseases [RCV004610954]	uncertain significance	19	16914709	16914709	Human	1	name
407456993	CV3419563	single nucleotide variant	NM_015692.5(CPAMD8):c.4279G>A (p.Ala1427Thr)	Inborn genetic diseases [RCV004610957]	uncertain significance	19	16903830	16903830	Human	1	name
407457251	CV3419565	single nucleotide variant	NM_015692.5(CPAMD8):c.3725A>G (p.Gln1242Arg)	Inborn genetic diseases [RCV004610959]	uncertain significance	19	16914718	16914718	Human	1	name
407457250	CV3419566	single nucleotide variant	NM_015692.5(CPAMD8):c.5519C>T (p.Pro1840Leu)	Inborn genetic diseases [RCV004610960]	likely benign	19	16893247	16893247	Human	1	name
407456942	CV3419569	single nucleotide variant	NM_015692.5(CPAMD8):c.4006C>T (p.Arg1336Cys)	Inborn genetic diseases [RCV004610963]	uncertain significance	19	16906973	16906973	Human	1	name
407456948	CV3419572	single nucleotide variant	NM_015692.5(CPAMD8):c.5126G>T (p.Arg1709Leu)	Inborn genetic diseases [RCV004610966]	uncertain significance	19	16896605	16896605	Human	1	name
407456951	CV3419573	single nucleotide variant	NM_015692.5(CPAMD8):c.3538C>A (p.Leu1180Ile)	Inborn genetic diseases [RCV004610967]	uncertain significance	19	16925205	16925205	Human	1	name
408383139	CV3504698	single nucleotide variant	NM_015692.5(CPAMD8):c.4939G>T (p.Asp1647Tyr)	CPAMD8-related disorder [RCV004730403]	uncertain significance	19	16897904	16897904	Human		name , trait , alternate_id
596927938	CV3541204	single nucleotide variant	NM_015692.5(CPAMD8):c.3349C>T (p.Arg1117Ter)	Anterior segment dysgenesis 8 [RCV004797075]	likely pathogenic	19	16928030	16928030	Human	1	name
12743370	CV362085	single nucleotide variant	NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro)	Anterior segment dysgenesis 8 [RCV000416368]	pathogenic	19	16904267	16904267	Human	1	name
597664118	CV3650944	single nucleotide variant	NM_015692.5(CPAMD8):c.5623G>A (p.Gly1875Ser)	Inborn genetic diseases [RCV004979105]	uncertain significance	19	16893143	16893143	Human	1	name
597664135	CV3650947	single nucleotide variant	NM_015692.5(CPAMD8):c.4177G>A (p.Val1393Met)	Inborn genetic diseases [RCV004979108]	uncertain significance	19	16904300	16904300	Human	1	name
597664170	CV3650952	single nucleotide variant	NM_015692.5(CPAMD8):c.4558C>T (p.Arg1520Cys)	Inborn genetic diseases [RCV004979113]	uncertain significance	19	16902776	16902776	Human	1	name
597664187	CV3650955	single nucleotide variant	NM_015692.5(CPAMD8):c.3671G>C (p.Ser1224Thr)	Inborn genetic diseases [RCV004979116]	uncertain significance	19	16914772	16914772	Human	1	name
597664663	CV3650957	single nucleotide variant	NM_015692.5(CPAMD8):c.3599T>C (p.Phe1200Ser)	Inborn genetic diseases [RCV004979118]	uncertain significance	19	16921935	16921935	Human	1	name
597664222	CV3650961	single nucleotide variant	NM_015692.5(CPAMD8):c.4729C>A (p.Pro1577Thr)	Inborn genetic diseases [RCV004979123]	uncertain significance	19	16901254	16901254	Human	1	name
597664226	CV3650962	single nucleotide variant	NM_015692.5(CPAMD8):c.3579G>C (p.Gln1193His)	Inborn genetic diseases [RCV004979124]	uncertain significance	19	16921955	16921955	Human	1	name
597664237	CV3650964	single nucleotide variant	NM_015692.5(CPAMD8):c.5185G>T (p.Val1729Leu)	Inborn genetic diseases [RCV004979126]	uncertain significance	19	16896546	16896546	Human	1	name
597664243	CV3650965	single nucleotide variant	NM_015692.5(CPAMD8):c.5333C>T (p.Ala1778Val)	Inborn genetic diseases [RCV004979127]	uncertain significance	19	16896269	16896269	Human	1	name
597664248	CV3650966	single nucleotide variant	NM_015692.5(CPAMD8):c.5182G>C (p.Gly1728Arg)	Inborn genetic diseases [RCV004979128]	uncertain significance	19	16896549	16896549	Human	1	name
597664258	CV3650968	single nucleotide variant	NM_015692.5(CPAMD8):c.5389G>A (p.Asp1797Asn)	Inborn genetic diseases [RCV004979130]	uncertain significance	19	16896213	16896213	Human	1	name
597874605	CV3747456	single nucleotide variant	NM_015692.5(CPAMD8):c.3127C>T (p.Arg1043Cys)	not provided [RCV005069140]	uncertain significance	19	16928959	16928959	Human		name
598264929	CV3945148	single nucleotide variant	NM_015692.5(CPAMD8):c.5072T>A (p.Phe1691Tyr)	Inborn genetic diseases [RCV005326229]	uncertain significance	19	16896659	16896659	Human	1	name
598235242	CV3945149	single nucleotide variant	NM_015692.5(CPAMD8):c.3692G>A (p.Arg1231Gln)	Inborn genetic diseases [RCV005320215]	uncertain significance	19	16914751	16914751	Human	1	name
598235261	CV3945155	single nucleotide variant	NM_015692.5(CPAMD8):c.5161A>G (p.Asn1721Asp)	Inborn genetic diseases [RCV005320220]	likely benign	19	16896570	16896570	Human	1	name
598235284	CV3945159	single nucleotide variant	NM_015692.5(CPAMD8):c.5137G>A (p.Asp1713Asn)	Inborn genetic diseases [RCV005320224]	uncertain significance	19	16896594	16896594	Human	1	name
598264937	CV3945160	single nucleotide variant	NM_015692.5(CPAMD8):c.4981G>T (p.Val1661Phe)	Inborn genetic diseases [RCV005326231]	uncertain significance	19	16897775	16897775	Human	1	name
598235288	CV3945161	single nucleotide variant	NM_015692.5(CPAMD8):c.3508C>T (p.Pro1170Ser)	Inborn genetic diseases [RCV005320225]	uncertain significance	19	16925235	16925235	Human	1	name
598235299	CV3945163	single nucleotide variant	NM_015692.5(CPAMD8):c.5149G>A (p.Gly1717Ser)	Inborn genetic diseases [RCV005320227]	uncertain significance	19	16896582	16896582	Human	1	name
598235310	CV3945165	single nucleotide variant	NM_015692.5(CPAMD8):c.3865G>A (p.Glu1289Lys)	Inborn genetic diseases [RCV005320229]	uncertain significance	19	16907114	16907114	Human	1	name
598235315	CV3945166	single nucleotide variant	NM_015692.5(CPAMD8):c.4224T>G (p.Asn1408Lys)	Inborn genetic diseases [RCV005320230]	uncertain significance	19	16904253	16904253	Human	1	name
598235340	CV3945170	single nucleotide variant	NM_015692.5(CPAMD8):c.5566G>C (p.Gly1856Arg)	Inborn genetic diseases [RCV005320234]	uncertain significance	19	16893200	16893200	Human	1	name
598235343	CV3945171	single nucleotide variant	NM_015692.5(CPAMD8):c.4736T>C (p.Leu1579Pro)	Inborn genetic diseases [RCV005320235]	uncertain significance	19	16901247	16901247	Human	1	name
598235362	CV3945175	single nucleotide variant	NM_015692.5(CPAMD8):c.4969C>T (p.Arg1657Cys)	Inborn genetic diseases [RCV005320239]	uncertain significance	19	16897787	16897787	Human	1	name
598235371	CV3945177	single nucleotide variant	NM_015692.5(CPAMD8):c.4546G>A (p.Glu1516Lys)	Inborn genetic diseases [RCV005320241]	uncertain significance	19	16902788	16902788	Human	1	name
598235375	CV3945178	single nucleotide variant	NM_015692.5(CPAMD8):c.5641A>C (p.Thr1881Pro)	Inborn genetic diseases [RCV005320242]	uncertain significance	19	16893125	16893125	Human	1	name
598235383	CV3945179	single nucleotide variant	NM_015692.5(CPAMD8):c.4603G>T (p.Asp1535Tyr)	Inborn genetic diseases [RCV005320243]	uncertain significance	19	16902731	16902731	Human	1	name
598235398	CV3945182	single nucleotide variant	NM_015692.5(CPAMD8):c.3557G>A (p.Arg1186His)	Inborn genetic diseases [RCV005320246]	uncertain significance	19	16921977	16921977	Human	1	name
15103752	CV704842	single nucleotide variant	NM_015692.5(CPAMD8):c.3658G>A (p.Ala1220Thr)	not provided [RCV000959543]	benign	19	16914785	16914785	Human		name
15181667	CV716263	single nucleotide variant	NM_015692.5(CPAMD8):c.3166T>G (p.Ser1056Ala)	not provided [RCV000974448]	benign	19	16928213	16928213	Human		name
15159270	CV728006	single nucleotide variant	NM_015692.5(CPAMD8):c.5638A>G (p.Asn1880Asp)	not provided [RCV000881163]	benign\|likely benign	19	16893128	16893128	Human		name
15163318	CV728007	single nucleotide variant	NM_015692.5(CPAMD8):c.4858C>G (p.Arg1620Gly)	Inborn genetic diseases [RCV004973135]\|not provided [RCV000881944]	likely benign\|uncertain significance	19	16897985	16897985	Human	1	name
15121329	CV741681	single nucleotide variant	NM_015692.5(CPAMD8):c.4960G>C (p.Glu1654Gln)	not provided [RCV000896046]	likely benign	19	16897796	16897796	Human		name
15185994	CV741682	single nucleotide variant	NM_015692.5(CPAMD8):c.4598G>A (p.Arg1533Gln)	not provided [RCV000908682]	benign	19	16902736	16902736	Human		name
15175351	CV741683	single nucleotide variant	NM_015692.5(CPAMD8):c.4261G>A (p.Val1421Met)	not provided [RCV000906191]	likely benign	19	16903848	16903848	Human		name
15128065	CV741685	single nucleotide variant	NM_015692.5(CPAMD8):c.3529A>G (p.Thr1177Ala)	not provided [RCV000897209]	benign	19	16925214	16925214	Human		name
8628233	CV83377	single nucleotide variant	NM_015692.2(CPAMD8):c.4420G>C (p.Ala1474Pro)	Malignant melanoma [RCV000063457]	not provided	19	16903830	16903830	Human		name
38465885	CV920597	single nucleotide variant	NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val)	Anterior segment dysgenesis [RCV001200035]	likely pathogenic	19	16929078	16929078	Human	2	name
150537007	CV1314440	deletion	NM_015692.5(CPAMD8):c.644_647del (p.Tyr215fs)	Anterior segment dysgenesis 8 [RCV001780868]	likely pathogenic	19	17004299	17004302	Human		name

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