Cdon Variant Search Result - Rat Genome Database

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751 records found for search term Cdon

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
28908137	CV867534	single nucleotide variant	NM_016952.5(CDON):c.-65C>T	Holoprosencephaly 11 [RCV001107652]	uncertain significance	11	126063229	126063229	Human	1	name
28908140	CV867535	single nucleotide variant	NM_016952.5(CDON):c.-71C>T	Holoprosencephaly 11 [RCV001107653]	uncertain significance	11	126063235	126063235	Human	1	name
598242233	CV3892772	single nucleotide variant	NM_016952.5(CDON):c.-62+1G>A	not provided [RCV005254605]	uncertain significance	11	126063225	126063225	Human		name
11609535	CV313195	single nucleotide variant	NM_001378964.1(CDON):c.-51A>C	Holoprosencephaly 11 [RCV000369315]\|not provided [RCV001653484]	benign\|likely benign	11	126023527	126023527	Human	1	name
11620139	CV325472	single nucleotide variant	NM_001378964.1(CDON):c.-48G>A	Holoprosencephaly 11 [RCV000333280]	likely benign\|uncertain significance	11	126023524	126023524	Human	1	name
11614247	CV325476	single nucleotide variant	NM_001378964.1(CDON):c.-57C>T	Holoprosencephaly 11 [RCV000275431]\|not provided [RCV001594936]	benign\|likely benign	11	126023533	126023533	Human	1	name
11624149	CV326398	single nucleotide variant	NM_001378964.1(CDON):c.*12C>T	Holoprosencephaly 11 [RCV000382148]	benign\|likely benign	11	125960930	125960930	Human	1	name
28907055	CV867533	single nucleotide variant	NM_001378964.1(CDON):c.-21T>C	Holoprosencephaly 11 [RCV001107001]	uncertain significance	11	126023497	126023497	Human	1	name
156029088	CV2058996	single nucleotide variant	NM_001378964.1(CDON):c.77-4G>C	Holoprosencephaly 11 [RCV002795972]	likely benign	11	126021524	126021524	Human	1	name
11601809	CV313172	single nucleotide variant	NM_001378964.1(CDON):c.*983A>G	Holoprosencephaly 11 [RCV000285310]	benign\|likely benign	11	125959959	125959959	Human	1	name
11653536	CV313178	single nucleotide variant	NM_001378964.1(CDON):c.*863C>T	Holoprosencephaly 11 [RCV000311382]	uncertain significance	11	125960079	125960079	Human	1	name
11662433	CV319272	single nucleotide variant	NM_001378964.1(CDON):c.*249G>A	Holoprosencephaly 11 [RCV000385724]	uncertain significance	11	125960693	125960693	Human	1	name
11606124	CV319273	single nucleotide variant	NM_001378964.1(CDON):c.*140A>G	Holoprosencephaly 11 [RCV000327701]\|not provided [RCV001683221]	benign\|likely benign	11	125960802	125960802	Human	1	name
11625963	CV325420	single nucleotide variant	NM_001378964.1(CDON):c.*864G>A	Holoprosencephaly 11 [RCV000404914]	benign\|uncertain significance	11	125960078	125960078	Human	1	name
11620181	CV325422	single nucleotide variant	NM_001378964.1(CDON):c.*601T>A	Holoprosencephaly 11 [RCV000333679]	benign\|uncertain significance	11	125960341	125960341	Human	1	name
11621880	CV325435	single nucleotide variant	NM_001378964.1(CDON):c.*589C>T	Holoprosencephaly 11 [RCV000353500]	benign\|likely benign	11	125960353	125960353	Human	1	name
11619957	CV325436	single nucleotide variant	NM_001378964.1(CDON):c.*278T>C	Holoprosencephaly 11 [RCV000331256]\|not provided [RCV001618525]	benign\|likely benign	11	125960664	125960664	Human	1	name
11620934	CV326343	single nucleotide variant	NM_001378964.1(CDON):c.*916G>A	Holoprosencephaly 11 [RCV000342550]	benign\|likely benign	11	125960026	125960026	Human	1	name
11625944	CV326353	single nucleotide variant	NM_001378964.1(CDON):c.*911T>C	Holoprosencephaly 11 [RCV000404626]	benign\|likely benign	11	125960031	125960031	Human	1	name
11617812	CV326367	single nucleotide variant	NM_001378964.1(CDON):c.*897T>C	Holoprosencephaly 11 [RCV000307816]	benign\|likely benign	11	125960045	125960045	Human	1	name
11622791	CV326371	single nucleotide variant	NM_001378964.1(CDON):c.*871C>T	Holoprosencephaly 11 [RCV000364724]	benign\|uncertain significance	11	125960071	125960071	Human	1	name
11623108	CV326385	single nucleotide variant	NM_001378964.1(CDON):c.*696T>C	Holoprosencephaly 11 [RCV000368383]	benign\|uncertain significance	11	125960246	125960246	Human	1	name
11614367	CV326386	duplication	NM_001378964.1(CDON):c.*609dup	Holoprosencephaly sequence [RCV000276222]	uncertain significance	11	125960332	125960333	Human	3	name
11614359	CV326393	single nucleotide variant	NM_001378964.1(CDON):c.*369G>A	Holoprosencephaly 11 [RCV000276211]	uncertain significance	11	125960573	125960573	Human	1	name
11613919	CV326397	single nucleotide variant	NM_001378964.1(CDON):c.*215C>T	Holoprosencephaly 11 [RCV000272578]	uncertain significance	11	125960727	125960727	Human	1	name
408391354	CV3523159	duplication	NM_001378964.1(CDON):c.76+2dup	not provided [RCV004770531]	uncertain significance	11	126023398	126023399	Human		name
28906565	CV867507	single nucleotide variant	NM_001378964.1(CDON):c.*712C>T	Holoprosencephaly 11 [RCV001106729]	uncertain significance	11	125960230	125960230	Human	1	name
28906567	CV867508	single nucleotide variant	NM_001378964.1(CDON):c.*689C>T	Holoprosencephaly 11 [RCV001106730]	uncertain significance	11	125960253	125960253	Human	1	name
28906570	CV867509	single nucleotide variant	NM_001378964.1(CDON):c.*544C>A	Holoprosencephaly 11 [RCV001106731]	uncertain significance	11	125960398	125960398	Human	1	name
28906572	CV867510	single nucleotide variant	NM_001378964.1(CDON):c.*354G>A	Holoprosencephaly 11 [RCV001106732]	uncertain significance	11	125960588	125960588	Human	1	name
28910104	CV867511	single nucleotide variant	NM_001378964.1(CDON):c.*293A>G	Holoprosencephaly 11 [RCV001108894]	uncertain significance	11	125960649	125960649	Human	1	name
28910106	CV867512	single nucleotide variant	NM_001378964.1(CDON):c.*167A>G	Holoprosencephaly 11 [RCV001108895]	benign	11	125960775	125960775	Human	1	name
28910108	CV867513	single nucleotide variant	NM_001378964.1(CDON):c.*136T>C	Holoprosencephaly 11 [RCV001108896]	uncertain significance	11	125960806	125960806	Human	1	name
150467017	CV1255836	single nucleotide variant	NM_001378964.1(CDON):c.77-30T>A	not provided [RCV001670470]	benign	11	126021550	126021550	Human		name
150492976	CV1267052	single nucleotide variant	NM_001378964.1(CDON):c.76+85G>C	not provided [RCV001688079]	benign	11	126023316	126023316	Human		name
150464314	CV1273286	single nucleotide variant	NM_001378964.1(CDON):c.77-67G>A	not provided [RCV001694043]	benign	11	126021587	126021587	Human		name
151350474	CV1325592	single nucleotide variant	NM_001378964.1(CDON):c.640+5G>A	not provided [RCV001814879]	uncertain significance	11	126018325	126018325	Human		name
152120682	CV1576237	deletion	NM_001378964.1(CDON):c.76+14del	Holoprosencephaly 11 [RCV002198009]	likely benign	11	126023387	126023387	Human	1	name
152151892	CV1658936	single nucleotide variant	NM_001378964.1(CDON):c.76+16G>A	Holoprosencephaly 11 [RCV002139643]	likely benign	11	126023385	126023385	Human	1	name
155265073	CV1704586	single nucleotide variant	NM_001378964.1(CDON):c.928+1G>A	not provided [RCV002284802]	uncertain significance	11	126017087	126017087	Human		name
155267768	CV1705140	single nucleotide variant	NM_001378964.1(CDON):c.76+43T>C	not provided [RCV002285745]	likely benign	11	126023358	126023358	Human		name
155797109	CV1863181	single nucleotide variant	NM_001378964.1(CDON):c.640+1G>A	Holoprosencephaly 11 [RCV002470455]	uncertain significance	11	126018329	126018329	Human	1	name
156216466	CV2253770	single nucleotide variant	NM_001378964.1(CDON):c.928+4A>T	Inborn genetic diseases [RCV002804437]	uncertain significance	11	126017084	126017084	Human	1	name
11543098	CV254055	single nucleotide variant	NM_001378964.1(CDON):c.76+21G>A	not provided [RCV001668550]\|not specified [RCV000242009]	benign	11	126023380	126023380	Human		name
405193189	CV2946861	single nucleotide variant	NM_001378964.1(CDON):c.77-16G>A	Holoprosencephaly 11 [RCV003641127]	likely benign	11	126021536	126021536	Human	1	name
11663192	CV313128	single nucleotide variant	NM_001378964.1(CDON):c.*3916G>A	Holoprosencephaly 11 [RCV000393265]	uncertain significance	11	125957026	125957026	Human	1	name
11603480	CV313133	single nucleotide variant	NM_001378964.1(CDON):c.*3884T>G	Holoprosencephaly 11 [RCV000300393]\|not provided [RCV004708198]	benign	11	125957058	125957058	Human	1	name
11605530	CV313135	single nucleotide variant	NM_001378964.1(CDON):c.*3765C>T	Holoprosencephaly 11 [RCV000320687]\|not provided [RCV004706820]	benign	11	125957177	125957177	Human	1	name
11602675	CV313137	single nucleotide variant	NM_001378964.1(CDON):c.*3221A>G	Holoprosencephaly 11 [RCV000292779]	likely benign	11	125957721	125957721	Human	1	name
11664220	CV313141	single nucleotide variant	NM_001378964.1(CDON):c.*3104T>C	Holoprosencephaly 11 [RCV000403530]	uncertain significance	11	125957838	125957838	Human	1	name
11608904	CV313143	single nucleotide variant	NM_001378964.1(CDON):c.*2749C>G	Holoprosencephaly 11 [RCV000361107]\|not provided [RCV003422247]	benign\|likely benign	11	125958193	125958193	Human	1	name
11599860	CV313146	single nucleotide variant	NM_001378964.1(CDON):c.*2740T>C	Holoprosencephaly 11 [RCV000268895]\|not provided [RCV004706824]	benign	11	125958202	125958202	Human	1	name
11603163	CV313150	single nucleotide variant	NM_001378964.1(CDON):c.*2377T>C	Holoprosencephaly 11 [RCV000297481]\|not provided [RCV004693016]	uncertain significance	11	125958565	125958565	Human	1	name
11650105	CV313160	single nucleotide variant	NM_001378964.1(CDON):c.*2101A>G	Holoprosencephaly 11 [RCV000290976]	uncertain significance	11	125958841	125958841	Human	1	name
11606294	CV313163	single nucleotide variant	NM_001378964.1(CDON):c.*2097G>A	Holoprosencephaly 11 [RCV000329646]	benign\|likely benign	11	125958845	125958845	Human	1	name
11610796	CV313164	single nucleotide variant	NM_001378964.1(CDON):c.*2003C>G	Holoprosencephaly 11 [RCV000386523]\|not provided [RCV004706826]	benign\|likely benign	11	125958939	125958939	Human	1	name
11600963	CV313167	single nucleotide variant	NM_001378964.1(CDON):c.*1307T>G	Holoprosencephaly 11 [RCV000278229]	benign\|likely benign	11	125959635	125959635	Human	1	name
11661183	CV313168	single nucleotide variant	NM_001378964.1(CDON):c.*1211A>G	Holoprosencephaly 11 [RCV000373994]	uncertain significance	11	125959731	125959731	Human	1	name
11608902	CV319179	single nucleotide variant	NM_001378964.1(CDON):c.*3628C>G	Holoprosencephaly 11 [RCV000361403]	benign\|likely benign	11	125957314	125957314	Human	1	name
11610421	CV319184	single nucleotide variant	NM_001378964.1(CDON):c.*3490T>C	Holoprosencephaly 11 [RCV000381235]\|not provided [RCV004706821]	benign	11	125957452	125957452	Human	1	name
11650221	CV319185	single nucleotide variant	NM_001378964.1(CDON):c.*3481C>T	Holoprosencephaly 11 [RCV000291527]	uncertain significance	11	125957461	125957461	Human	1	name
11658857	CV319186	single nucleotide variant	NM_001378964.1(CDON):c.*3210A>G	Holoprosencephaly 11 [RCV000352313]	uncertain significance	11	125957732	125957732	Human	1	name
11612323	CV319188	single nucleotide variant	NM_001378964.1(CDON):c.*3176C>G	Holoprosencephaly 11 [RCV000406926]	likely benign	11	125957766	125957766	Human	1	name
11656643	CV319189	single nucleotide variant	NM_001378964.1(CDON):c.*3133A>T	Holoprosencephaly 11 [RCV000335003]	uncertain significance	11	125957809	125957809	Human	1	name
11609155	CV319198	single nucleotide variant	NM_001378964.1(CDON):c.*2717C>T	Holoprosencephaly 11 [RCV000364450]	benign\|likely benign	11	125958225	125958225	Human	1	name
11600276	CV319205	single nucleotide variant	NM_001378964.1(CDON):c.*2705C>T	Holoprosencephaly 11 [RCV000272283]	uncertain significance	11	125958237	125958237	Human	1	name
11651084	CV319212	single nucleotide variant	NM_001378964.1(CDON):c.*2580G>C	Holoprosencephaly 11 [RCV000296626]	uncertain significance	11	125958362	125958362	Human	1	name
11600666	CV319214	single nucleotide variant	NM_001378964.1(CDON):c.*2379T>C	Holoprosencephaly 11 [RCV000275442]\|not provided [RCV004706825]	benign\|likely benign	11	125958563	125958563	Human	1	name
11599020	CV319243	single nucleotide variant	NM_001378964.1(CDON):c.*2373C>T	Holoprosencephaly 11 [RCV000262033]	uncertain significance	11	125958569	125958569	Human	1	name
11662160	CV319253	single nucleotide variant	NM_001378964.1(CDON):c.*2195G>A	Holoprosencephaly 11 [RCV000383210]	uncertain significance	11	125958747	125958747	Human	1	name
11608231	CV319259	single nucleotide variant	NM_001378964.1(CDON):c.*1816C>T	Holoprosencephaly 11 [RCV000352691]\|not provided [RCV004693018]	uncertain significance	11	125959126	125959126	Human	1	name
11663180	CV319262	single nucleotide variant	NM_001378964.1(CDON):c.*1803C>T	Holoprosencephaly 11 [RCV000393070]	uncertain significance	11	125959139	125959139	Human	1	name
11664138	CV319263	single nucleotide variant	NM_001378964.1(CDON):c.*1736C>T	Holoprosencephaly 11 [RCV000402909]	uncertain significance	11	125959206	125959206	Human	1	name
11655862	CV319265	single nucleotide variant	NM_001378964.1(CDON):c.*1429C>T	Holoprosencephaly 11 [RCV000328322]	uncertain significance	11	125959513	125959513	Human	1	name
11609294	CV319266	single nucleotide variant	NM_001378964.1(CDON):c.*1332T>G	Holoprosencephaly 11 [RCV000366603]\|not provided [RCV004708201]	benign\|likely benign	11	125959610	125959610	Human	1	name
11662714	CV319269	duplication	NM_001378964.1(CDON):c.*1310dup	Holoprosencephaly sequence [RCV000388553]	uncertain significance	11	125959631	125959632	Human	3	name
11605206	CV319271	single nucleotide variant	NM_001378964.1(CDON):c.*1216G>A	Holoprosencephaly 11 [RCV000316919]	uncertain significance	11	125959726	125959726	Human	1	name
11612344	CV319330	single nucleotide variant	NM_001378964.1(CDON):c.350-9A>G	Holoprosencephaly 11 [RCV000407726]	uncertain significance	11	126019774	126019774	Human	1	name
11618410	CV325328	single nucleotide variant	NM_001378964.1(CDON):c.*3972C>G	Holoprosencephaly 11 [RCV000313388]	likely benign	11	125956970	125956970	Human	1	name
11621953	CV325329	single nucleotide variant	NM_001378964.1(CDON):c.*3919T>C	Holoprosencephaly 11 [RCV000354259]	likely benign	11	125957023	125957023	Human	1	name
11622043	CV325340	single nucleotide variant	NM_001378964.1(CDON):c.*3862G>T	Holoprosencephaly 11 [RCV000355323]\|not provided [RCV004708199]	benign\|likely benign	11	125957080	125957080	Human	1	name
11613101	CV325350	single nucleotide variant	NM_001378964.1(CDON):c.*3830G>A	Holoprosencephaly 11 [RCV000265253]	benign\|likely benign	11	125957112	125957112	Human	1	name
11617079	CV325356	single nucleotide variant	NM_001378964.1(CDON):c.*3076T>A	Holoprosencephaly 11 [RCV000300691]\|not provided [RCV004706822]	benign\|likely benign	11	125957866	125957866	Human	1	name
11662721	CV325359	single nucleotide variant	NM_001378964.1(CDON):c.*2640A>G	Holoprosencephaly 11 [RCV000388665]	uncertain significance	11	125958302	125958302	Human	1	name
11616466	CV325385	single nucleotide variant	NM_001378964.1(CDON):c.*1933A>G	Holoprosencephaly 11 [RCV000294656]\|not provided [RCV004708200]	benign	11	125959009	125959009	Human	1	name
11648194	CV325392	single nucleotide variant	NM_001378964.1(CDON):c.*1800A>G	Holoprosencephaly 11 [RCV000280112]	uncertain significance	11	125959142	125959142	Human	1	name
11656954	CV325402	single nucleotide variant	NM_001378964.1(CDON):c.*1745A>G	Holoprosencephaly 11 [RCV000337519]	uncertain significance	11	125959197	125959197	Human	1	name
11622409	CV325403	single nucleotide variant	NM_001378964.1(CDON):c.*1589G>A	Holoprosencephaly 11 [RCV000359759]	uncertain significance	11	125959353	125959353	Human	1	name
11625833	CV325406	single nucleotide variant	NM_001378964.1(CDON):c.*1572A>G	Holoprosencephaly 11 [RCV000403178]	uncertain significance	11	125959370	125959370	Human	1	name
11659970	CV325409	single nucleotide variant	NM_001378964.1(CDON):c.*1508A>G	Holoprosencephaly sequence [RCV000362748]	uncertain significance	11	125959434	125959434	Human	3	name
11615036	CV325411	single nucleotide variant	NM_001378964.1(CDON):c.*1151C>T	Holoprosencephaly 11 [RCV000281819]	uncertain significance	11	125959791	125959791	Human	1	name
11620600	CV325417	single nucleotide variant	NM_001378964.1(CDON):c.*1061T>C	Holoprosencephaly 11 [RCV000338948]	benign\|likely benign	11	125959881	125959881	Human	1	name
11626151	CV325418	single nucleotide variant	NM_001378964.1(CDON):c.*1016C>T	Holoprosencephaly 11 [RCV000407900]	benign\|likely benign	11	125959926	125959926	Human	1	name
11650058	CV326193	single nucleotide variant	NM_001378964.1(CDON):c.*4097A>G	Holoprosencephaly 11 [RCV000290683]	uncertain significance	11	125956845	125956845	Human	1	name
11621440	CV326213	single nucleotide variant	NM_001378964.1(CDON):c.*4080G>A	Holoprosencephaly 11 [RCV000348488]	benign\|likely benign	11	125956862	125956862	Human	1	name
11625981	CV326221	single nucleotide variant	NM_001378964.1(CDON):c.*4052C>T	Holoprosencephaly 11 [RCV000405135]\|not provided [RCV004708197]	benign\|likely benign	11	125956890	125956890	Human	1	name
11645681	CV326230	single nucleotide variant	NM_001378964.1(CDON):c.*3610C>T	Holoprosencephaly 11 [RCV000266648]	uncertain significance	11	125957332	125957332	Human	1	name
11619644	CV326231	single nucleotide variant	NM_001378964.1(CDON):c.*3424T>C	Holoprosencephaly 11 [RCV000327722]	benign\|likely benign	11	125957518	125957518	Human	1	name
11624494	CV326234	single nucleotide variant	NM_001378964.1(CDON):c.*3409T>G	Holoprosencephaly 11 [RCV000386919]	benign\|likely benign	11	125957533	125957533	Human	1	name
11614815	CV326239	single nucleotide variant	NM_001378964.1(CDON):c.*3141A>G	Holoprosencephaly 11 [RCV000279914]\|not provided [RCV003422246]	benign\|likely benign	11	125957801	125957801	Human	1	name
11622266	CV326240	single nucleotide variant	NM_001378964.1(CDON):c.*2992T>C	Holoprosencephaly 11 [RCV000357794]	benign\|likely benign	11	125957950	125957950	Human	1	name
11625289	CV326250	single nucleotide variant	NM_001378964.1(CDON):c.*2830A>G	Holoprosencephaly 11 [RCV000397244]\|not provided [RCV004706823]	benign	11	125958112	125958112	Human	1	name
11652326	CV326254	single nucleotide variant	NM_001378964.1(CDON):c.*2769G>A	Holoprosencephaly 11 [RCV000304182]	uncertain significance	11	125958173	125958173	Human	1	name
11619480	CV326260	single nucleotide variant	NM_001378964.1(CDON):c.*2734G>A	Holoprosencephaly 11 [RCV000326122]	benign\|likely benign	11	125958208	125958208	Human	1	name
11655966	CV326261	single nucleotide variant	NM_001378964.1(CDON):c.*2698T>C	Holoprosencephaly 11 [RCV000329701]	uncertain significance	11	125958244	125958244	Human	1	name
11618670	CV326262	single nucleotide variant	NM_001378964.1(CDON):c.*2573G>A	Holoprosencephaly 11 [RCV000316518]	benign\|likely benign	11	125958369	125958369	Human	1	name
11623977	CV326330	single nucleotide variant	NM_001378964.1(CDON):c.*2291T>C	Holoprosencephaly 11 [RCV000379741]	benign\|likely benign	11	125958651	125958651	Human	1	name
11619523	CV326332	single nucleotide variant	NM_001378964.1(CDON):c.*2264C>T	Holoprosencephaly 11 [RCV000326307]	benign\|uncertain significance	11	125958678	125958678	Human	1	name
11617270	CV326336	single nucleotide variant	NM_001378964.1(CDON):c.*1661C>T	Holoprosencephaly 11 [RCV000302582]	uncertain significance	11	125959281	125959281	Human	1	name
11652570	CV326337	single nucleotide variant	NM_001378964.1(CDON):c.*1517G>T	Holoprosencephaly 11 [RCV000305672]	uncertain significance	11	125959425	125959425	Human	1	name
11646490	CV326338	duplication	NM_001378964.1(CDON):c.*1506dup	Holoprosencephaly sequence [RCV000270917]	uncertain significance	11	125959435	125959436	Human	3	name
11647104	CV326342	single nucleotide variant	NM_001378964.1(CDON):c.*1327T>G	Holoprosencephaly 11 [RCV000274344]	uncertain significance	11	125959615	125959615	Human	1	name
597948004	CV3852403	single nucleotide variant	NM_001378964.1(CDON):c.349+4A>G	Holoprosencephaly 11 [RCV005189481]	uncertain significance	11	126021244	126021244	Human	1	name
15146700	CV787720	single nucleotide variant	NM_001378964.1(CDON):c.349+3G>A	Holoprosencephaly 11 [RCV001456380]	likely benign	11	126021245	126021245	Human	1	name
28903802	CV867477	single nucleotide variant	NM_001378964.1(CDON):c.*4063G>T	Holoprosencephaly 11 [RCV001105296]	uncertain significance	11	125956879	125956879	Human	1	name
28903805	CV867478	single nucleotide variant	NM_001378964.1(CDON):c.*4007G>A	Holoprosencephaly 11 [RCV001105297]	uncertain significance	11	125956935	125956935	Human	1	name
28903808	CV867479	single nucleotide variant	NM_001378964.1(CDON):c.*4000C>T	Holoprosencephaly 11 [RCV001105298]	benign	11	125956942	125956942	Human	1	name
28906067	CV867480	single nucleotide variant	NM_001378964.1(CDON):c.*3971G>A	Holoprosencephaly 11 [RCV001106425]	uncertain significance	11	125956971	125956971	Human	1	name
28906069	CV867481	single nucleotide variant	NM_001378964.1(CDON):c.*3777G>A	Holoprosencephaly 11 [RCV001106426]	benign	11	125957165	125957165	Human	1	name
28909797	CV867482	single nucleotide variant	NM_001378964.1(CDON):c.*3655T>C	Holoprosencephaly 11 [RCV001108635]	uncertain significance	11	125957287	125957287	Human	1	name
28909800	CV867483	single nucleotide variant	NM_001378964.1(CDON):c.*3514A>G	Holoprosencephaly 11 [RCV001108636]	benign	11	125957428	125957428	Human	1	name
28899646	CV867484	single nucleotide variant	NM_001378964.1(CDON):c.*3294A>G	Holoprosencephaly 11 [RCV001103458]	uncertain significance	11	125957648	125957648	Human	1	name
28899648	CV867485	single nucleotide variant	NM_001378964.1(CDON):c.*3269G>C	Holoprosencephaly 11 [RCV001103459]	uncertain significance	11	125957673	125957673	Human	1	name
28899650	CV867486	single nucleotide variant	NM_001378964.1(CDON):c.*3235G>A	Holoprosencephaly 11 [RCV001103460]	uncertain significance	11	125957707	125957707	Human	1	name
28903990	CV867487	single nucleotide variant	NM_001378964.1(CDON):c.*3060C>T	Holoprosencephaly 11 [RCV001105383]	uncertain significance	11	125957882	125957882	Human	1	name
28903993	CV867488	single nucleotide variant	NM_001378964.1(CDON):c.*2999C>T	Holoprosencephaly 11 [RCV001105384]	uncertain significance	11	125957943	125957943	Human	1	name
28903995	CV867489	single nucleotide variant	NM_001378964.1(CDON):c.*2933C>T	Holoprosencephaly 11 [RCV001105385]	uncertain significance	11	125958009	125958009	Human	1	name
28903998	CV867490	single nucleotide variant	NM_001378964.1(CDON):c.*2847G>T	Holoprosencephaly 11 [RCV001105386]	uncertain significance	11	125958095	125958095	Human	1	name
28906241	CV867491	single nucleotide variant	NM_001378964.1(CDON):c.*2760A>G	Holoprosencephaly 11 [RCV001106521]\|not provided [RCV004693642]	uncertain significance	11	125958182	125958182	Human	1	name
28906242	CV867492	single nucleotide variant	NM_001378964.1(CDON):c.*2755A>G	Holoprosencephaly 11 [RCV001106522]	uncertain significance	11	125958187	125958187	Human	1	name
28909908	CV867493	single nucleotide variant	NM_001378964.1(CDON):c.*2730A>G	Holoprosencephaly 11 [RCV001108704]	uncertain significance	11	125958212	125958212	Human	1	name
28899858	CV867494	single nucleotide variant	NM_001378964.1(CDON):c.*2375C>T	Holoprosencephaly 11 [RCV001103545]	uncertain significance	11	125958567	125958567	Human	1	name
28899862	CV867495	single nucleotide variant	NM_001378964.1(CDON):c.*2349A>C	Holoprosencephaly 11 [RCV001103546]\|not provided [RCV004693608]	uncertain significance	11	125958593	125958593	Human	1	name
28899864	CV867496	single nucleotide variant	NM_001378964.1(CDON):c.*2347T>C	Holoprosencephaly 11 [RCV001103547]\|not provided [RCV004707529]	benign	11	125958595	125958595	Human	1	name
28899868	CV867497	single nucleotide variant	NM_001378964.1(CDON):c.*2345T>A	Holoprosencephaly 11 [RCV001103548]\|not provided [RCV004709020]	benign	11	125958597	125958597	Human	1	name
28899870	CV867498	single nucleotide variant	NM_001378964.1(CDON):c.*2339T>A	Holoprosencephaly 11 [RCV001103549]	uncertain significance	11	125958603	125958603	Human	1	name
28904205	CV867499	single nucleotide variant	NM_001378964.1(CDON):c.*2057G>A	Holoprosencephaly 11 [RCV001105470]	uncertain significance	11	125958885	125958885	Human	1	name
28904208	CV867500	single nucleotide variant	NM_001378964.1(CDON):c.*2024C>T	Holoprosencephaly 11 [RCV001105471]	benign	11	125958918	125958918	Human	1	name
28906407	CV867501	single nucleotide variant	NM_001378964.1(CDON):c.*1874G>T	Holoprosencephaly 11 [RCV001106634]	uncertain significance	11	125959068	125959068	Human	1	name
28906410	CV867502	single nucleotide variant	NM_001378964.1(CDON):c.*1834G>A	Holoprosencephaly 11 [RCV001106635]	uncertain significance	11	125959108	125959108	Human	1	name
28906411	CV867503	single nucleotide variant	NM_001378964.1(CDON):c.*1805A>G	Holoprosencephaly 11 [RCV001106636]\|not provided [RCV004693644]	uncertain significance	11	125959137	125959137	Human	1	name
28910004	CV867504	single nucleotide variant	NM_001378964.1(CDON):c.*1671G>A	Holoprosencephaly 11 [RCV001108791]	benign	11	125959271	125959271	Human	1	name
28910005	CV867505	single nucleotide variant	NM_001378964.1(CDON):c.*1457G>A	Holoprosencephaly 11 [RCV001108792]	likely benign	11	125959485	125959485	Human	1	name
28900044	CV867506	single nucleotide variant	NM_001378964.1(CDON):c.*1062C>T	Holoprosencephaly 11 [RCV001103638]	uncertain significance	11	125959880	125959880	Human	1	name
28907047	CV868618	single nucleotide variant	NM_001378964.1(CDON):c.77-11T>C	Holoprosencephaly 11 [RCV001106998]	conflicting interpretations of pathogenicity\|uncertain significance	11	126021531	126021531	Human	1	name
150333265	CV1172209	single nucleotide variant	NM_001378964.1(CDON):c.76+243A>T	not provided [RCV001539399]	benign	11	126023158	126023158	Human		name
150406150	CV1191170	single nucleotide variant	NM_001378964.1(CDON):c.76+211C>T	not provided [RCV001564606]	likely benign	11	126023190	126023190	Human		name
150511403	CV1212736	single nucleotide variant	NM_001378964.1(CDON):c.-61-71A>G	not provided [RCV001597967]	benign	11	126023608	126023608	Human		name
150505344	CV1222868	single nucleotide variant	NM_001378964.1(CDON):c.-61-66C>T	not provided [RCV001621802]	benign	11	126023603	126023603	Human		name
150438972	CV1247655	single nucleotide variant	NM_001378964.1(CDON):c.77-291A>G	not provided [RCV001666022]	benign	11	126021811	126021811	Human		name
150462150	CV1264695	single nucleotide variant	NM_001378964.1(CDON):c.350-95G>A	not provided [RCV001682319]	benign	11	126019860	126019860	Human		name
150458475	CV1269642	single nucleotide variant	NM_001378964.1(CDON):c.76+220A>G	not provided [RCV001693182]	benign	11	126023181	126023181	Human		name
150450572	CV1272401	deletion	NM_001378964.1(CDON):c.76+251del	not provided [RCV001691882]	benign	11	126023150	126023150	Human		name
150448616	CV1275564	single nucleotide variant	NM_001378964.1(CDON):c.77-179C>T	not provided [RCV001708019]	benign	11	126021699	126021699	Human		name
152032010	CV1546188	single nucleotide variant	NM_001378964.1(CDON):c.3631+9G>A	CDON-related disorder [RCV003970938]\|Holoprosencephaly 11 [RCV002124672]	benign\|likely benign	11	125961715	125961715	Human	1	name , trait , alternate_id
152102654	CV1579078	single nucleotide variant	NM_001378964.1(CDON):c.2544+7A>G	Holoprosencephaly 11 [RCV002079191]	likely benign	11	125994864	125994864	Human	1	name
152078658	CV1632162	single nucleotide variant	NM_001378964.1(CDON):c.350-19G>A	Holoprosencephaly 11 [RCV002130557]\|not provided [RCV004707783]	benign	11	126019784	126019784	Human	1	name
156245604	CV1890301	single nucleotide variant	NM_001378964.1(CDON):c.2026+6T>G	Holoprosencephaly 11 [RCV003085911]	uncertain significance	11	126003896	126003896	Human	1	name
156101158	CV2011596	single nucleotide variant	NM_001378964.1(CDON):c.2159-9C>T	Holoprosencephaly 11 [RCV002695312]	likely benign	11	125997419	125997419	Human	1	name
156193938	CV2024258	single nucleotide variant	NM_001378964.1(CDON):c.1553-9T>C	Holoprosencephaly 11 [RCV002711178]	likely benign	11	126006066	126006066	Human	1	name
156090842	CV2056997	single nucleotide variant	NM_001378964.1(CDON):c.641-19A>G	Holoprosencephaly 11 [RCV002824176]	likely benign	11	126017394	126017394	Human	1	name
156293953	CV2152832	single nucleotide variant	NM_001378964.1(CDON):c.3357-2A>G	Holoprosencephaly 11 [RCV003010082]	uncertain significance	11	125962000	125962000	Human	1	name
11549301	CV254048	single nucleotide variant	NM_001378964.1(CDON):c.641-41G>A	not provided [RCV001707592]\|not specified [RCV000250232]	benign	11	126017416	126017416	Human		name
11546019	CV254049	single nucleotide variant	NM_001378964.1(CDON):c.640+12G>A	Holoprosencephaly 11 [RCV000287721]\|not provided [RCV001597020]\|not specified [RCV000245917]	benign\|likely benign	11	126018318	126018318	Human	1	name
11543637	CV254050	single nucleotide variant	NM_001378964.1(CDON):c.496+50T>C	not provided [RCV001640554]\|not specified [RCV000242727]	benign	11	126019569	126019569	Human		name
11549543	CV254051	single nucleotide variant	NM_001378964.1(CDON):c.496+45C>T	not provided [RCV001709548]\|not specified [RCV000250555]	benign	11	126019574	126019574	Human	1	name
11549543	CV254051	single nucleotide variant	NM_001378964.1(CDON):c.496+45C>T	not provided [RCV001709548]\|not specified [RCV000250555]	benign	11	126019574	126019575	Human	1	name
11547740	CV254053	single nucleotide variant	NM_001378964.1(CDON):c.350-13T>C	Holoprosencephaly 11 [RCV000302864]\|not provided [RCV001651218]\|not specified [RCV000248161]	benign\|likely benign	11	126019778	126019778	Human	1	name
11543996	CV254054	duplication	NM_001378964.1(CDON):c.349+39dup	not provided [RCV001636801]\|not specified [RCV000243197]	benign	11	126021208	126021209	Human		name
329953077	CV2669786	single nucleotide variant	NM_001378964.1(CDON):c.1552+1G>A	not provided [RCV003234410]	uncertain significance	11	126010340	126010340	Human		name
401829930	CV2747597	single nucleotide variant	NM_001378964.1(CDON):c.2650+1G>T	not provided [RCV003329063]	uncertain significance	11	125994283	125994283	Human		name
405193027	CV2936321	single nucleotide variant	NM_001378964.1(CDON):c.497-20G>T	Holoprosencephaly 11 [RCV003641111]	likely benign	11	126018493	126018493	Human	1	name
405189177	CV3029671	single nucleotide variant	NM_001378964.1(CDON):c.349+14T>C	Holoprosencephaly 11 [RCV003640602]	likely benign	11	126021234	126021234	Human	1	name
405191746	CV3032706	single nucleotide variant	NM_001378964.1(CDON):c.2774-4C>T	Holoprosencephaly 11 [RCV003640731]	likely benign	11	125984097	125984097	Human	1	name
405094180	CV3164142	single nucleotide variant	NM_001378964.1(CDON):c.349+17C>T	Holoprosencephaly 11 [RCV003852457]	likely benign	11	126021231	126021231	Human	1	name
405235766	CV3168605	single nucleotide variant	NM_001378964.1(CDON):c.640+10T>C	Holoprosencephaly 11 [RCV003866079]	likely benign	11	126018320	126018320	Human	1	name
11662350	CV319338	deletion	NM_001378964.1(CDON):c.-61-15del	Holoprosencephaly sequence [RCV000385114]	uncertain significance	11	126023552	126023552	Human	3	name
11615099	CV326402	single nucleotide variant	NM_001378964.1(CDON):c.2159-8G>A	CDON-related disorder [RCV003920247]\|Holoprosencephaly 11 [RCV000282665]	likely benign\|uncertain significance	11	125997418	125997418	Human	1	name , trait , alternate_id
597851533	CV3803781	single nucleotide variant	NM_001378964.1(CDON):c.2773+9A>G	Holoprosencephaly 11 [RCV005145498]	likely benign	11	125989628	125989628	Human	1	name
15108345	CV730745	single nucleotide variant	NM_001378964.1(CDON):c.1199-8T>C	not provided [RCV000893652]	likely benign	11	126010702	126010702	Human		name
15169397	CV744563	single nucleotide variant	NM_001378964.1(CDON):c.2158+7A>C	not provided [RCV000905049]	likely benign	11	126001712	126001712	Human		name
15161182	CV759946	single nucleotide variant	NM_001378964.1(CDON):c.1553-8C>G	not provided [RCV000925633]	likely benign	11	126006065	126006065	Human		name
15134913	CV787630	single nucleotide variant	NM_001378964.1(CDON):c.2159-6G>C	not provided [RCV000981831]	likely benign	11	125997416	125997416	Human		name
28904662	CV868616	single nucleotide variant	NM_001378964.1(CDON):c.3276+1G>T	Holoprosencephaly 11 [RCV001105684]	conflicting interpretations of pathogenicity\|uncertain significance	11	125981048	125981048	Human	1	name
28901392	CV868617	single nucleotide variant	NM_001378964.1(CDON):c.350-11A>G	Holoprosencephaly 11 [RCV001104226]	benign\|likely benign	11	126019776	126019776	Human	1	name
150410462	CV1191169	single nucleotide variant	NM_001378964.1(CDON):c.3276+27C>T	not provided [RCV001566065]	likely benign	11	125981022	125981022	Human		name
150505299	CV1213494	single nucleotide variant	NM_001378964.1(CDON):c.349+240G>A	not provided [RCV001595750]	benign	11	126021008	126021008	Human		name
150462383	CV1214637	single nucleotide variant	NM_001378964.1(CDON):c.640+248A>G	not provided [RCV001613630]	benign	11	126018082	126018082	Human		name
150469339	CV1219057	single nucleotide variant	NM_001378964.1(CDON):c.929-186G>A	not provided [RCV001614809]	benign	11	126015696	126015696	Human		name
150505262	CV1222848	single nucleotide variant	NM_001378964.1(CDON):c.640+230G>C	not provided [RCV001621782]	benign	11	126018100	126018100	Human		name
150505340	CV1222867	deletion	NM_001378964.1(CDON):c.350-161del	not provided [RCV001621801]	benign	11	126019926	126019926	Human		name
150507331	CV1226565	duplication	NM_001378964.1(CDON):c.349+256dup	not provided [RCV001635933]	benign	11	126020991	126020992	Human		name
150516783	CV1227238	single nucleotide variant	NM_001378964.1(CDON):c.3276+63G>C	not provided [RCV001639338]	benign	11	125980986	125980986	Human		name
150434732	CV1231165	single nucleotide variant	NM_001378964.1(CDON):c.496+256T>C	not provided [RCV001643809]	benign	11	126019363	126019363	Human		name
150435571	CV1233892	single nucleotide variant	NM_001378964.1(CDON):c.928+243A>G	not provided [RCV001644019]	benign	11	126016845	126016845	Human		name
150500722	CV1238235	single nucleotide variant	NM_001378964.1(CDON):c.-61-120G>A	not provided [RCV001656665]	benign	11	126023657	126023657	Human		name
150444726	CV1249460	single nucleotide variant	NM_001378964.1(CDON):c.2363-66T>C	not provided [RCV001666893]	benign	11	125995118	125995118	Human		name
150473787	CV1252464	single nucleotide variant	NM_001378964.1(CDON):c.929-326G>A	not provided [RCV001671666]	benign	11	126015836	126015836	Human		name
150446088	CV1261309	single nucleotide variant	NM_001378964.1(CDON):c.2158+60G>T	not provided [RCV001679983]	benign	11	126001659	126001659	Human		name
150475849	CV1263561	single nucleotide variant	NM_001378964.1(CDON):c.350-330G>C	not provided [RCV001685084]	benign	11	126020095	126020095	Human		name
150441079	CV1267018	single nucleotide variant	NM_001378964.1(CDON):c.2996-76A>G	not provided [RCV001690454]	benign	11	125981405	125981405	Human		name
150463688	CV1273188	single nucleotide variant	NM_001378964.1(CDON):c.349+309C>T	not provided [RCV001693945]	benign	11	126020939	126020939	Human		name
150452058	CV1276677	single nucleotide variant	NM_001378964.1(CDON):c.2995+70T>C	not provided [RCV001708466]	benign	11	125983802	125983802	Human		name
150446133	CV1278268	single nucleotide variant	NM_001378964.1(CDON):c.497-244A>G	not provided [RCV001707411]	benign	11	126018717	126018717	Human		name
150442847	CV1287792	deletion	NM_001378964.1(CDON):c.350-234del	not provided [RCV001725513]	benign	11	126019999	126019999	Human		name
152082133	CV1551853	single nucleotide variant	NM_001378964.1(CDON):c.1198+15C>T	Holoprosencephaly 11 [RCV002092990]	likely benign	11	126015226	126015226	Human	1	name
156290062	CV2192300	single nucleotide variant	NM_001378964.1(CDON):c.2995+16A>G	Holoprosencephaly 11 [RCV003045105]	likely benign	11	125983856	125983856	Human	1	name
11546947	CV254038	single nucleotide variant	NM_001378964.1(CDON):c.2996-48G>T	not provided [RCV001675742]\|not specified [RCV000247126]	benign	11	125981377	125981377	Human		name
11550768	CV254040	single nucleotide variant	NM_001378964.1(CDON):c.2545-42A>G	not provided [RCV001651216]\|not specified [RCV000252182]	benign	11	125994431	125994431	Human		name
11543592	CV254042	single nucleotide variant	NM_001378964.1(CDON):c.2362+49C>A	Holoprosencephaly 11 [RCV001579287]\|not provided [RCV001660335]\|not specified [RCV000242663]	benign	11	125997158	125997158	Human	1	name
401910273	CV2809996	single nucleotide variant	NM_001378964.1(CDON):c.3631+43A>T	not provided [RCV003424902]	likely benign	11	125961681	125961681	Human		name
401914306	CV2830666	single nucleotide variant	NM_001378964.1(CDON):c.3631+11C>T	not provided [RCV003442404]	uncertain significance	11	125961713	125961713	Human		name
405027302	CV2869504	single nucleotide variant	NM_001378964.1(CDON):c.3277-15C>T	Holoprosencephaly 11 [RCV003529093]	likely benign	11	125978398	125978398	Human	1	name
405202262	CV3075536	single nucleotide variant	NM_001378964.1(CDON):c.1553-16C>G	Holoprosencephaly 11 [RCV003642202]	likely benign	11	126006073	126006073	Human	1	name
11611365	CV313183	single nucleotide variant	NM_001378964.1(CDON):c.2026+15C>T	Holoprosencephaly 11 [RCV000393679]	likely benign\|uncertain significance	11	126003887	126003887	Human	1	name
11660548	CV319216	microsatellite	NM_001378964.1(CDON):c.*2379CA[3]	Holoprosencephaly sequence [RCV000367690]	uncertain significance	11	125958563	125958564	Human		name
405261424	CV3221468	single nucleotide variant	NM_001378964.1(CDON):c.2996-31C>T	CDON-related disorder [RCV003966946]	likely benign	11	125981360	125981360	Human		name , trait , alternate_id
11648994	CV325365	microsatellite	NM_001378964.1(CDON):c.*2381CA[3]	Holoprosencephaly sequence [RCV000285015]	uncertain significance	11	125958561	125958562	Human		name
11657522	CV325370	microsatellite	NM_001378964.1(CDON):c.*2381CA[5]	Holoprosencephaly sequence [RCV000341864]\|not provided [RCV004693008]	uncertain significance	11	125958561	125958562	Human		name
11620508	CV325458	single nucleotide variant	NM_001378964.1(CDON):c.2159-14G>A	Holoprosencephaly 11 [RCV000337582]	conflicting interpretations of pathogenicity\|uncertain significance	11	125997424	125997424	Human	1	name
11652839	CV326266	microsatellite	NM_001378964.1(CDON):c.*2379CA[6]	Holoprosencephaly sequence [RCV000306895]\|not provided [RCV004693009]	uncertain significance	11	125958563	125958564	Human		name
11622720	CV326404	single nucleotide variant	NM_001378964.1(CDON):c.1851+14G>A	Holoprosencephaly 11 [RCV000363464]\|not provided [RCV001690005]	benign\|likely benign	11	126005745	126005745	Human	1	name
15126178	CV695498	single nucleotide variant	NM_001378964.1(CDON):c.3631+10G>A	Holoprosencephaly 11 [RCV000875076]	likely benign	11	125961714	125961714	Human	1	name
150330909	CV1169439	single nucleotide variant	NM_001378964.1(CDON):c.2996-187T>C	not provided [RCV001536209]	benign	11	125981516	125981516	Human		name
150418381	CV1180778	single nucleotide variant	NM_001378964.1(CDON):c.2544+229G>A	not provided [RCV001550576]	likely benign	11	125994642	125994642	Human		name
150410278	CV1191168	single nucleotide variant	NM_001378964.1(CDON):c.3276+294C>T	not provided [RCV001565965]	likely benign	11	125980755	125980755	Human		name
150406851	CV1194459	single nucleotide variant	NM_001378964.1(CDON):c.2158+126A>G	not provided [RCV001572153]	likely benign	11	126001593	126001593	Human		name
150421170	CV1198154	single nucleotide variant	NM_001378964.1(CDON):c.1199-346T>C	not provided [RCV001577923]	likely benign	11	126011040	126011040	Human		name
150447928	CV1201957	single nucleotide variant	NM_001378964.1(CDON):c.1851+224T>A	not provided [RCV001584826]	likely benign	11	126005535	126005535	Human		name
150503302	CV1212452	single nucleotide variant	NM_001378964.1(CDON):c.2995+208A>G	not provided [RCV001595327]	benign	11	125983664	125983664	Human		name
150509016	CV1214192	single nucleotide variant	NM_001378964.1(CDON):c.1852-187C>G	not provided [RCV001596713]	benign	11	126004263	126004263	Human		name
150461816	CV1214559	single nucleotide variant	NM_001378964.1(CDON):c.3356+163C>T	not provided [RCV001613552]	benign	11	125978141	125978141	Human		name
150445515	CV1215507	single nucleotide variant	NM_001378964.1(CDON):c.2363-209A>G	not provided [RCV001611100]	benign	11	125995261	125995261	Human		name
150515048	CV1217362	single nucleotide variant	NM_001378964.1(CDON):c.3356+210C>A	not provided [RCV001608266]	benign	11	125978094	125978094	Human		name
150457234	CV1219589	single nucleotide variant	NM_001378964.1(CDON):c.2158+313T>C	not provided [RCV001612805]	benign	11	126001406	126001406	Human		name
150479145	CV1221456	single nucleotide variant	NM_001378964.1(CDON):c.1198+135G>T	not provided [RCV001616535]	benign	11	126015106	126015106	Human		name
150481303	CV1222138	single nucleotide variant	NM_001378964.1(CDON):c.2158+161A>G	not provided [RCV001616936]	benign	11	126001558	126001558	Human		name
150484018	CV1222403	single nucleotide variant	NM_001378964.1(CDON):c.3632-150C>T	not provided [RCV001617406]	benign	11	125961255	125961255	Human		name
150504948	CV1222771	single nucleotide variant	NM_001378964.1(CDON):c.3631+212A>G	not provided [RCV001621705]	benign	11	125961512	125961512	Human	1	name
150504948	CV1222771	single nucleotide variant	NM_001378964.1(CDON):c.3631+212A>G	not provided [RCV001621705]	benign	11	125961512	125961513	Human	1	name
150501465	CV1223712	single nucleotide variant	NM_001378964.1(CDON):c.2362+276A>G	not provided [RCV001620833]	benign	11	125996931	125996931	Human		name
150511797	CV1228348	single nucleotide variant	NM_001378964.1(CDON):c.1851+140C>T	not provided [RCV001637480]	benign	11	126005619	126005619	Human		name
150462862	CV1234974	single nucleotide variant	NM_001378964.1(CDON):c.2650+185G>T	not provided [RCV001649556]	benign	11	125994099	125994099	Human		name
150463072	CV1235003	single nucleotide variant	NM_001378964.1(CDON):c.2026+158C>A	not provided [RCV001649585]	benign	11	126003744	126003744	Human		name
150477399	CV1240024	single nucleotide variant	NM_001378964.1(CDON):c.3277-141T>G	not provided [RCV001652202]	benign	11	125978524	125978524	Human		name
150457424	CV1248782	single nucleotide variant	NM_001378964.1(CDON):c.3276+179T>G	not provided [RCV001668958]	benign	11	125980870	125980870	Human		name
150445210	CV1249539	single nucleotide variant	NM_001378964.1(CDON):c.3277-228G>A	not provided [RCV001666972]	benign	11	125978611	125978611	Human		name
150447162	CV1250785	deletion	NM_001378964.1(CDON):c.2027-218del	not provided [RCV001667290]	benign	11	126002068	126002068	Human		name
150489703	CV1250905	single nucleotide variant	NM_001378964.1(CDON):c.3277-204A>G	not provided [RCV001674572]	benign	11	125978587	125978587	Human		name
150471669	CV1253396	single nucleotide variant	NM_001378964.1(CDON):c.2027-210T>C	not provided [RCV001671309]	benign	11	126002060	126002060	Human		name
150504602	CV1255271	single nucleotide variant	NM_001378964.1(CDON):c.2773+125C>A	not provided [RCV001677718]	benign	11	125989512	125989512	Human		name
150492783	CV1257422	single nucleotide variant	NM_001378964.1(CDON):c.2651-129A>G	not provided [RCV001675095]	benign	11	125989888	125989888	Human		name
150485994	CV1262208	single nucleotide variant	NM_001378964.1(CDON):c.1851+100A>T	not provided [RCV001686899]	benign	11	126005659	126005659	Human		name
150477272	CV1262478	single nucleotide variant	NM_001378964.1(CDON):c.1851+256G>A	not provided [RCV001685291]	benign	11	126005503	126005503	Human		name
150458740	CV1265180	single nucleotide variant	NM_001378964.1(CDON):c.2158+234A>G	not provided [RCV001681814]	benign	11	126001485	126001485	Human		name
150466939	CV1268857	single nucleotide variant	NM_001378964.1(CDON):c.2995+244T>A	not provided [RCV001694554]	benign	11	125983628	125983628	Human		name
150445074	CV1269376	single nucleotide variant	NM_001378964.1(CDON):c.1552+173G>A	not provided [RCV001691063]	benign	11	126010168	126010168	Human		name
150445624	CV1269465	single nucleotide variant	NM_001378964.1(CDON):c.1198+232C>T	not provided [RCV001691153]	benign	11	126015009	126015009	Human		name
150448574	CV1270481	single nucleotide variant	NM_001378964.1(CDON):c.2545-206C>G	not provided [RCV001691619]	benign	11	125994595	125994595	Human		name
150485774	CV1273879	single nucleotide variant	NM_001378964.1(CDON):c.2026+175C>T	not provided [RCV001698804]	benign	11	126003727	126003727	Human		name
150454957	CV1277100	single nucleotide variant	NM_001378964.1(CDON):c.2027-215C>G	not provided [RCV001708892]	benign	11	126002065	126002065	Human		name
150481492	CV1279763	single nucleotide variant	NM_001378964.1(CDON):c.3277-243A>T	not provided [RCV001714856]	benign	11	125978626	125978626	Human		name
150510261	CV1286758	single nucleotide variant	NM_001378964.1(CDON):c.2651-136T>G	not provided [RCV001720993]	benign	11	125989895	125989895	Human		name
11648388	CV313147	microsatellite	NM_001378964.1(CDON):c.*2377TA[12]	Holoprosencephaly sequence [RCV000281475]	uncertain significance	11	125958547	125958548	Human		name
11635503	CV313159	microsatellite	NM_001378964.1(CDON):c.*2351CA[14]	Holoprosencephaly sequence [RCV000357883]	uncertain significance	11	125958565	125958566	Human		name
11635065	CV319238	microsatellite	NM_001378964.1(CDON):c.*2351CA[16]	Holoprosencephaly sequence [RCV000300797]\|not provided [RCV004693017]	uncertain significance	11	125958565	125958566	Human		name
11661099	CV325361	microsatellite	NM_001378964.1(CDON):c.*2377TA[10]	Holoprosencephaly sequence [RCV000373447]	uncertain significance	11	125958547	125958548	Human		name
11635881	CV325382	microsatellite	NM_001378964.1(CDON):c.*2351CA[17]	Holoprosencephaly sequence [RCV000406014]\|not provided [RCV004693015]	uncertain significance	11	125958565	125958566	Human		name
11659070	CV326306	microsatellite	NM_001378964.1(CDON):c.*2351CA[12]	Holoprosencephaly sequence [RCV000354715]	uncertain significance	11	125958566	125958567	Human		name
11609734	CV319328	microsatellite	NM_001378964.1(CDON):c.1553-17TC[3]	Holoprosencephaly 11 [RCV002522186]\|Holoprosencephaly sequence [RCV000371944]\|not provided [RCV003456391]	benign\|likely benign\|uncertain significance	11	126006065	126006068	Human		name
405290930	CV3197185	microsatellite	NM_001378964.1(CDON):c.1553-17TC[6]	CDON-related disorder [RCV003984748]	likely benign	11	126006064	126006065	Human		name , trait , alternate_id
11620002	CV325410	microsatellite	NM_001378964.1(CDON):c.*1311GTTT[2]	Holoprosencephaly sequence [RCV000331646]\|not provided [RCV003422248]	benign\|likely benign	11	125959620	125959623	Human		name
11547336	CV254041	microsatellite	NM_001378964.1(CDON):c.2363-37GTT[3]	not provided [RCV001597018]\|not specified [RCV000247623]	benign\|likely benign	11	125995078	125995080	Human		name
11546996	CV254056	single nucleotide variant	NM_001378964.1(CDON):c.9G>A (p.Pro3=)	Holoprosencephaly 11 [RCV000538404]\|not provided [RCV004706731]\|not specified [RCV000247186]	benign	11	126023468	126023468	Human	1	name
11655532	CV313136	deletion	NM_001378964.1(CDON):c.3522_3523del	Holoprosencephaly sequence [RCV000326335]	uncertain significance	11	125957419	125957420	Human	3	name
11653855	CV319217	deletion	NM_001378964.1(CDON):c.2373_2378del	Holoprosencephaly sequence [RCV000313468]\|not provided [RCV004693010]	uncertain significance	11	125958564	125958569	Human	3	name
11606387	CV319336	deletion	NM_001378964.1(CDON):c.-61-9_-61-7del	Holoprosencephaly sequence [RCV000330493]	uncertain significance	11	126023544	126023546	Human	3	name
11613514	CV325383	deletion	NM_001378964.1(CDON):c.2283_2285del	Holoprosencephaly sequence [RCV000268823]	uncertain significance	11	125958657	125958659	Human	3	name
597902775	CV3804555	single nucleotide variant	NM_001378964.1(CDON):c.21C>G (p.Pro7=)	Holoprosencephaly 11 [RCV005152990]	likely benign	11	126023456	126023456	Human	1	name
8626947	CV82091	single nucleotide variant	NM_016952.4(CDON):c.855C>T (p.Ser285=)	Malignant melanoma [RCV000062170]	not provided	11	126017161	126017161	Human		name
126914026	CV1047104	deletion	NM_001378964.1(CDON):c.2363-5_2363-4del	Holoprosencephaly 11 [RCV001359388]	uncertain significance	11	125995056	125995057	Human	1	name
11635457	CV313156	insertion	NM_001378964.1(CDON):c.*2376AC[2]ATA[1]	Holoprosencephaly sequence [RCV000346401]	uncertain significance	11	125958565	125958566	Human	3	name
11635176	CV313158	insertion	NM_001378964.1(CDON):c.*2376AC[5]ATA[1]	Holoprosencephaly sequence [RCV000311459]	uncertain significance	11	125958565	125958566	Human	3	name
11635472	CV319235	insertion	NM_001378964.1(CDON):c.*2376AC[6]ATA[1]	Holoprosencephaly sequence [RCV000349940]	uncertain significance	11	125958565	125958566	Human	3	name
11657180	CV325363	insertion	NM_001378964.1(CDON):c.2380_2381insCA	Holoprosencephaly sequence [RCV000338907]	uncertain significance	11	125958561	125958562	Human	3	name
11644362	CV325471	single nucleotide variant	NM_001378964.1(CDON):c.39T>C (p.Tyr13=)	Holoprosencephaly 11 [RCV000259474]	uncertain significance	11	126023438	126023438	Human	1	name
11653412	CV326264	insertion	NM_001378964.1(CDON):c.2378_2379insCA	Holoprosencephaly sequence [RCV000310692]	uncertain significance	11	125958563	125958564	Human	3	name
11635867	CV326300	insertion	NM_001378964.1(CDON):c.*2376AC[4]ATA[1]	Holoprosencephaly sequence [RCV000402941]\|not provided [RCV004693014]	uncertain significance	11	125958565	125958566	Human	3	name
405743020	CV3293104	single nucleotide variant	NM_001378964.1(CDON):c.8C>T (p.Pro3Leu)	Inborn genetic diseases [RCV004431025]	uncertain significance	11	126023469	126023469	Human	1	name
597935126	CV3777166	single nucleotide variant	NM_001378964.1(CDON):c.87T>G (p.Pro29=)	Holoprosencephaly 11 [RCV005117325]	likely benign	11	126021510	126021510	Human	1	name
597924926	CV3778041	single nucleotide variant	NM_001378964.1(CDON):c.81G>A (p.Leu27=)	Holoprosencephaly 11 [RCV005130765]	likely benign	11	126021516	126021516	Human	1	name
28907053	CV867532	single nucleotide variant	NM_001378964.1(CDON):c.30A>G (p.Thr10=)	Holoprosencephaly 11 [RCV001107000]	uncertain significance	11	126023447	126023447	Human	1	name
38460025	CV919338	single nucleotide variant	NM_001378964.1(CDON):c.7C>T (p.Pro3Ser)	Holoprosencephaly 11 [RCV001196303]\|Inborn genetic diseases [RCV004609648]	uncertain significance	11	126023470	126023470	Human	2	name
156142347	CV2106127	single nucleotide variant	NM_001378964.1(CDON):c.25T>G (p.Cys9Gly)	Holoprosencephaly 11 [RCV002928601]	uncertain significance	11	126023452	126023452	Human	1	name
401910277	CV2810000	single nucleotide variant	NM_001378964.1(CDON):c.225T>C (p.Val75=)	not provided [RCV003424906]	likely benign	11	126021372	126021372	Human		name
405742968	CV3293096	single nucleotide variant	NM_001378964.1(CDON):c.202T>C (p.Leu68=)	Inborn genetic diseases [RCV004431017]	likely benign	11	126021395	126021395	Human	1	name
597654984	CV3648712	single nucleotide variant	NM_001378964.1(CDON):c.20C>T (p.Pro7Leu)	Inborn genetic diseases [RCV004976302]	likely benign	11	126023457	126023457	Human	1	name
597910290	CV3806584	single nucleotide variant	NM_001378964.1(CDON):c.192C>T (p.Asn64=)	Holoprosencephaly 11 [RCV005154151]	likely benign	11	126021405	126021405	Human	1	name
15130345	CV768295	single nucleotide variant	NM_001378964.1(CDON):c.108C>T (p.Leu36=)	Holoprosencephaly 11 [RCV001461780]	likely benign	11	126021489	126021489	Human	1	name
28901394	CV867530	single nucleotide variant	NM_001378964.1(CDON):c.244C>T (p.Leu82=)	CDON-related disorder [RCV003918680]\|Holoprosencephaly 11 [RCV001104227]	benign\|likely benign	11	126021353	126021353	Human	1	name , trait , alternate_id
8633927	CV89143	single nucleotide variant	NM_016952.4(CDON):c.628C>T (p.Leu210Phe)	Malignant melanoma [RCV000069240]	not provided	11	126018342	126018342	Human		name
8642666	CV101650	single nucleotide variant	NM_001378964.1(CDON):c.330T>C (p.Pro110=)	Holoprosencephaly 11 [RCV000554211]\|not provided [RCV001682782]\|not specified [RCV000081796]	benign\|likely benign	11	126021267	126021267	Human	1	name
150488145	CV1208208	duplication	NM_001378964.1(CDON):c.349+255_349+256dup	not provided [RCV001592068]	likely benign	11	126020991	126020992	Human		name
150453490	CV1231832	deletion	NM_001378964.1(CDON):c.2362+57_2362+62del	not provided [RCV001648139]	benign	11	125997145	125997150	Human		name
150488778	CV1265302	microsatellite	NM_001378964.1(CDON):c.2996-45_2996-42del	CDON-related disorder [RCV003975960]\|not provided [RCV001687338]	benign	11	125981371	125981374	Human		name , trait , alternate_id
150472919	CV1272568	deletion	NM_001378964.1(CDON):c.2996-36_2996-23del	not provided [RCV001695624]	benign	11	125981352	125981365	Human		name
151750416	CV1359076	single nucleotide variant	NM_001378964.1(CDON):c.50C>A (p.Thr17Lys)	Holoprosencephaly 11 [RCV001969134]	uncertain significance	11	126023427	126023427	Human	1	name
152101965	CV1578968	single nucleotide variant	NM_001378964.1(CDON):c.789A>C (p.Ala263=)	Holoprosencephaly 11 [RCV002079113]	likely benign	11	126017227	126017227	Human	1	name
156296287	CV1894313	single nucleotide variant	NM_001378964.1(CDON):c.891A>G (p.Gly297=)	Holoprosencephaly 11 [RCV003087706]	likely benign	11	126017125	126017125	Human	1	name
156084718	CV2170484	single nucleotide variant	NM_001378964.1(CDON):c.65C>G (p.Ser22Cys)	Holoprosencephaly 11 [RCV003038007]	uncertain significance	11	126023412	126023412	Human	1	name
243055075	CV2407238	duplication	NM_001378964.1(CDON):c.101dup (p.Pro35fs)	Holoprosencephaly 11 [RCV003144788]	uncertain significance	11	126021495	126021496	Human	1	name
405027006	CV2880115	single nucleotide variant	NM_001378964.1(CDON):c.711C>T (p.Ser237=)	Holoprosencephaly 11 [RCV003529070]	likely benign	11	126017305	126017305	Human	1	name
405031972	CV2899274	single nucleotide variant	NM_001378964.1(CDON):c.67G>T (p.Val23Leu)	Holoprosencephaly 11 [RCV003529505]	uncertain significance	11	126023410	126023410	Human	1	name
405197383	CV2997642	single nucleotide variant	NM_001378964.1(CDON):c.531G>A (p.Gln177=)	CDON-related disorder [RCV003956462]\|Holoprosencephaly 11 [RCV003641683]	likely benign	11	126018439	126018439	Human	1	name , trait , alternate_id
405219423	CV3154182	single nucleotide variant	NM_001378964.1(CDON):c.774C>T (p.Asp258=)	Holoprosencephaly 11 [RCV003846874]	likely benign	11	126017242	126017242	Human	1	name
11661501	CV319213	insertion	NM_001378964.1(CDON):c.2380_2381insCACA	Holoprosencephaly sequence [RCV000377052]\|not provided [RCV004693007]	uncertain significance	11	125958561	125958562	Human	3	name
11659076	CV319334	single nucleotide variant	NM_001378964.1(CDON):c.94A>G (p.Thr32Ala)	Holoprosencephaly 11 [RCV000354318]	uncertain significance	11	126021503	126021503	Human	1	name
11634943	CV326271	insertion	NM_001378964.1(CDON):c.2376_2377insCATA	Holoprosencephaly sequence [RCV000288917]\|not provided [RCV004693013]	uncertain significance	11	125958565	125958566	Human	3	name
597957918	CV3755200	single nucleotide variant	NM_001378964.1(CDON):c.747G>A (p.Pro249=)	Holoprosencephaly 11 [RCV005080870]	likely benign	11	126017269	126017269	Human	1	name
598193459	CV3940380	single nucleotide variant	NM_001378964.1(CDON):c.40G>A (p.Val14Ile)	Inborn genetic diseases [RCV005312986]	uncertain significance	11	126023437	126023437	Human	1	name
15141266	CV687720	single nucleotide variant	NM_001378964.1(CDON):c.726G>A (p.Glu242=)	CDON-related disorder [RCV003938270]\|Holoprosencephaly 11 [RCV002062262]	benign\|likely benign	11	126017290	126017290	Human	1	name , trait , alternate_id
15183283	CV737844	single nucleotide variant	NM_001378964.1(CDON):c.846G>A (p.Pro282=)	Holoprosencephaly 11 [RCV000908026]	likely benign	11	126017170	126017170	Human	1	name
15115661	CV737845	single nucleotide variant	NM_001378964.1(CDON):c.309C>T (p.Ile103=)	Holoprosencephaly 11 [RCV002539432]	likely benign	11	126021288	126021288	Human	1	name
15200398	CV752527	single nucleotide variant	NM_001378964.1(CDON):c.999C>T (p.Cys333=)	Holoprosencephaly 11 [RCV002065840]	likely benign	11	126015440	126015440	Human	1	name
15122157	CV752528	single nucleotide variant	NM_001378964.1(CDON):c.939C>A (p.Ser313=)	not provided [RCV000918603]	likely benign	11	126015500	126015500	Human		name
15099113	CV768293	single nucleotide variant	NM_001378964.1(CDON):c.897A>C (p.Val299=)	not provided [RCV000936424]	likely benign	11	126017119	126017119	Human		name
15174941	CV768294	single nucleotide variant	NM_001378964.1(CDON):c.792A>G (p.Pro264=)	not provided [RCV000928557]	likely benign	11	126017224	126017224	Human		name
15143820	CV783907	single nucleotide variant	NM_001378964.1(CDON):c.952C>T (p.Leu318=)	Holoprosencephaly 11 [RCV000983390]	likely benign	11	126015487	126015487	Human	1	name
8626946	CV82090	single nucleotide variant	NM_016952.4(CDON):c.1729C>T (p.Pro577Ser)	Malignant melanoma [RCV000062169]	not provided	11	126005881	126005881	Human		name
28907051	CV867531	single nucleotide variant	NM_001378964.1(CDON):c.46C>T (p.Leu16Phe)	Holoprosencephaly 11 [RCV001106999]	uncertain significance	11	126023431	126023431	Human	1	name
8642665	CV101649	single nucleotide variant	NM_001378964.1(CDON):c.223G>A (p.Val75Ile)	Holoprosencephaly 11 [RCV000403980]\|not provided [RCV001636648]\|not specified [RCV000081795]	benign	11	126021374	126021374	Human	1	name
127302994	CV1142003	single nucleotide variant	NM_001378964.1(CDON):c.2268C>T (p.Val756=)	Holoprosencephaly 11 [RCV001479114]	likely benign	11	125997301	125997301	Human	1	name
127321494	CV1156644	single nucleotide variant	NM_001378964.1(CDON):c.2535A>G (p.Leu845=)	Holoprosencephaly 11 [RCV001523085]	benign	11	125994880	125994880	Human	1	name
150508169	CV1229574	microsatellite	NM_001378964.1(CDON):c.2996-114GTGTGCGT[2]	not provided [RCV001636152]	benign	11	125981420	125981427	Human		name
150521127	CV1290869	single nucleotide variant	NM_001378964.1(CDON):c.136G>T (p.Val46Leu)	not provided [RCV001732507]	uncertain significance	11	126021461	126021461	Human		name
150549349	CV1294833	duplication	NM_001378964.1(CDON):c.363dup (p.Gly122fs)	not provided [RCV001752325]	uncertain significance	11	126019751	126019752	Human		name
151788423	CV1419848	single nucleotide variant	NM_001378964.1(CDON):c.2205A>G (p.Thr735=)	Holoprosencephaly 11 [RCV001951800]	likely benign\|uncertain significance	11	125997364	125997364	Human	1	name
152155688	CV1560998	single nucleotide variant	NM_001378964.1(CDON):c.1254C>T (p.Asp418=)	Holoprosencephaly 11 [RCV002102893]	likely benign	11	126010639	126010639	Human	1	name
152047201	CV1561566	single nucleotide variant	NM_001378964.1(CDON):c.1485G>A (p.Ala495=)	Holoprosencephaly 11 [RCV002108484]	likely benign	11	126010408	126010408	Human	1	name
152161272	CV1606133	single nucleotide variant	NM_001378964.1(CDON):c.2307A>G (p.Ala769=)	Holoprosencephaly 11 [RCV002180977]	likely benign	11	125997262	125997262	Human	1	name
152113729	CV1665460	single nucleotide variant	NM_001378964.1(CDON):c.1746A>T (p.Ile582=)	Holoprosencephaly 11 [RCV002097192]	likely benign	11	126005864	126005864	Human	1	name
155803842	CV1858408	single nucleotide variant	NM_001378964.1(CDON):c.192C>G (p.Asn64Lys)	not provided [RCV002462718]	uncertain significance	11	126021405	126021405	Human		name
156274215	CV1880493	single nucleotide variant	NM_001378964.1(CDON):c.101A>C (p.Glu34Ala)	Holoprosencephaly 11 [RCV003060829]\|Inborn genetic diseases [RCV004070430]	likely benign\|uncertain significance	11	126021496	126021496	Human	2	name
156359915	CV1904292	single nucleotide variant	NM_001378964.1(CDON):c.1227G>A (p.Thr409=)	Holoprosencephaly 11 [RCV002581653]	likely benign	11	126010666	126010666	Human	1	name
156446937	CV1948623	single nucleotide variant	NM_001378964.1(CDON):c.1365G>A (p.Ser455=)	Holoprosencephaly 11 [RCV003118459]	likely benign	11	126010528	126010528	Human	1	name
156116448	CV1995584	single nucleotide variant	NM_001378964.1(CDON):c.1389A>C (p.Ser463=)	Holoprosencephaly 11 [RCV002640141]	likely benign	11	126010504	126010504	Human	1	name
155917322	CV2029945	single nucleotide variant	NM_001378964.1(CDON):c.2001C>T (p.Ala667=)	Holoprosencephaly 11 [RCV002750531]	likely benign	11	126003927	126003927	Human	1	name
156036186	CV2030029	single nucleotide variant	NM_001378964.1(CDON):c.2286G>A (p.Arg762=)	Holoprosencephaly 11 [RCV002736005]	benign	11	125997283	125997283	Human	1	name
155996700	CV2091946	single nucleotide variant	NM_001378964.1(CDON):c.1485G>C (p.Ala495=)	Holoprosencephaly 11 [RCV002908422]	likely benign	11	126010408	126010408	Human	1	name
155940674	CV2119815	single nucleotide variant	NM_001378964.1(CDON):c.2868C>A (p.Thr956=)	Holoprosencephaly 11 [RCV002971260]\|not provided [RCV004584986]	benign\|likely benign	11	125983999	125983999	Human	1	name
156037326	CV2120015	single nucleotide variant	NM_001378964.1(CDON):c.173G>A (p.Arg58His)	Holoprosencephaly 11 [RCV002962627]\|Inborn genetic diseases [RCV002949477]\|not specified [RCV003491180]	likely benign\|uncertain significance	11	126021424	126021424	Human	2	name
155953725	CV2123687	single nucleotide variant	NM_001378964.1(CDON):c.2091C>G (p.Pro697=)	Holoprosencephaly 11 [RCV002972006]	likely benign	11	126001786	126001786	Human	1	name
155954567	CV2123745	single nucleotide variant	NM_001378964.1(CDON):c.2631C>T (p.Tyr877=)	Holoprosencephaly 11 [RCV002972052]	likely benign	11	125994303	125994303	Human	1	name
156149872	CV2213028	single nucleotide variant	NM_001378964.1(CDON):c.110C>G (p.Ser37Cys)	Inborn genetic diseases [RCV002697575]	uncertain significance	11	126021487	126021487	Human	1	name
11543970	CV254044	single nucleotide variant	NM_001378964.1(CDON):c.2037G>A (p.Ala679=)	Holoprosencephaly 11 [RCV000352649]\|not provided [RCV001668548]\|not specified [RCV000243165]	benign	11	126001840	126001840	Human	1	name
11549981	CV254045	single nucleotide variant	NM_001378964.1(CDON):c.1671G>A (p.Lys557=)	Holoprosencephaly 11 [RCV000320676]\|not provided [RCV001550900]\|not specified [RCV000251134]	benign\|likely benign	11	126005939	126005939	Human	1	name
11545316	CV254046	single nucleotide variant	NM_001378964.1(CDON):c.1296G>A (p.Pro432=)	Holoprosencephaly 11 [RCV000870860]\|not provided [RCV001610696]\|not specified [RCV000244969]	benign\|likely benign	11	126010597	126010597	Human	1	name
401931959	CV2801835	duplication	NM_001378964.1(CDON):c.403dup (p.Ser135fs)	CDON-related disorder [RCV003408572]	uncertain significance	11	126019711	126019712	Human		name , trait , alternate_id
405024439	CV2859755	single nucleotide variant	NM_001378964.1(CDON):c.193G>A (p.Gly65Arg)	Holoprosencephaly 11 [RCV003528851]	uncertain significance	11	126021404	126021404	Human	1	name
405027920	CV2870296	single nucleotide variant	NM_001378964.1(CDON):c.2091C>T (p.Pro697=)	Holoprosencephaly 11 [RCV003529142]	likely benign	11	126001786	126001786	Human	1	name
405016805	CV2931065	single nucleotide variant	NM_001378964.1(CDON):c.202T>A (p.Leu68Met)	Holoprosencephaly 11 [RCV003527815]	uncertain significance	11	126021395	126021395	Human	1	name
405199739	CV3057044	single nucleotide variant	NM_001378964.1(CDON):c.1002C>T (p.Asp334=)	Holoprosencephaly 11 [RCV003642014]	likely benign	11	126015437	126015437	Human	1	name
11634640	CV313151	microsatellite	NM_001378964.1(CDON):c.*2376AC[3]AT[3]A[1]	Holoprosencephaly sequence [RCV000262814]\|not provided [RCV004693011]	uncertain significance	11	125958565	125958566	Human		name
11634849	CV313155	microsatellite	NM_001378964.1(CDON):c.*2376AC[4]AT[2]A[1]	Holoprosencephaly sequence [RCV000285496]	uncertain significance	11	125958565	125958566	Human		name
11603064	CV313193	single nucleotide variant	NM_001378964.1(CDON):c.1500C>T (p.Cys500=)	Holoprosencephaly 11 [RCV000296261]	benign\|likely benign	11	126010393	126010393	Human	1	name
405262675	CV3189380	single nucleotide variant	NM_001378964.1(CDON):c.2211C>T (p.Val737=)	CDON-related disorder [RCV003896614]	likely benign	11	125997358	125997358	Human		name , trait , alternate_id
11635642	CV319218	microsatellite	NM_001378964.1(CDON):c.*2376AC[2]AT[3]A[1]	Holoprosencephaly sequence [RCV000373788]	uncertain significance	11	125958565	125958566	Human		name
11635695	CV319229	microsatellite	NM_001378964.1(CDON):c.*2376AC[3]AT[2]A[1]	Holoprosencephaly sequence [RCV000377322]\|not provided [RCV004693012]	uncertain significance	11	125958565	125958566	Human		name
11635413	CV319231	microsatellite	NM_001378964.1(CDON):c.*2376AC[5]AT[2]A[1]	Holoprosencephaly sequence [RCV000342781]	uncertain significance	11	125958565	125958566	Human		name
11608841	CV319317	single nucleotide variant	NM_001378964.1(CDON):c.1818G>T (p.Leu606=)	Holoprosencephaly 11 [RCV000865509]	benign\|likely benign	11	126005792	126005792	Human	1	name
11608558	CV319321	single nucleotide variant	NM_001378964.1(CDON):c.1665G>A (p.Pro555=)	Holoprosencephaly 11 [RCV000356747]	likely benign\|uncertain significance	11	126005945	126005945	Human	1	name
11603379	CV319333	single nucleotide variant	NM_001378964.1(CDON):c.197A>G (p.Lys66Arg)	Holoprosencephaly 11 [RCV001001875]\|not provided [RCV001706452]	benign\|likely benign	11	126021400	126021400	Human	1	name
405269003	CV3201178	single nucleotide variant	NM_001378964.1(CDON):c.2685G>A (p.Gln895=)	CDON-related disorder [RCV003899284]	likely benign	11	125989725	125989725	Human		name , trait , alternate_id
405289762	CV3213322	single nucleotide variant	NM_001378964.1(CDON):c.1824C>A (p.Ile608=)	CDON-related disorder [RCV003961952]	likely benign	11	126005786	126005786	Human		name , trait , alternate_id
405265956	CV3215769	single nucleotide variant	NM_001378964.1(CDON):c.1782C>T (p.Tyr594=)	CDON-related disorder [RCV003946925]	likely benign	11	126005828	126005828	Human		name , trait , alternate_id
405278070	CV3216429	single nucleotide variant	NM_001378964.1(CDON):c.1710C>T (p.Asn570=)	CDON-related disorder [RCV003954370]\|Holoprosencephaly 11 [RCV005102936]	likely benign	11	126005900	126005900	Human	1	name , trait , alternate_id
405655037	CV3228442	deletion	NM_001378964.1(CDON):c.993del (p.Phe331fs)	not specified [RCV003995177]	uncertain significance	11	126015446	126015446	Human		name
11635688	CV325372	microsatellite	NM_001378964.1(CDON):c.*2376AC[8]AT[2]A[1]	Holoprosencephaly sequence [RCV000381025]	uncertain significance	11	125958565	125958566	Human		name
11618287	CV325462	single nucleotide variant	NM_001378964.1(CDON):c.1977C>T (p.Ser659=)	Holoprosencephaly 11 [RCV000312269]	benign\|likely benign\|uncertain significance	11	126003951	126003951	Human	1	name
407425548	CV3409586	single nucleotide variant	NM_001378964.1(CDON):c.1467T>A (p.Ala489=)	not provided [RCV004585518]	likely benign	11	126010426	126010426	Human		name
407460619	CV3418672	single nucleotide variant	NM_001378964.1(CDON):c.170C>G (p.Thr57Ser)	Inborn genetic diseases [RCV004612373]	uncertain significance	11	126021427	126021427	Human	1	name
407574135	CV3498484	single nucleotide variant	NM_001378964.1(CDON):c.2754G>A (p.Val918=)	not specified [RCV004702959]	likely benign	11	125989656	125989656	Human		name
596943211	CV3542831	single nucleotide variant	NM_001378964.1(CDON):c.2343A>G (p.Glu781=)	not provided [RCV004798415]	uncertain significance	11	125997226	125997226	Human		name
596945798	CV3548070	single nucleotide variant	NM_001378964.1(CDON):c.1425C>T (p.Phe475=)	not provided [RCV004809401]	likely benign	11	126010468	126010468	Human		name
597960501	CV3746167	single nucleotide variant	NM_001378964.1(CDON):c.1863G>A (p.Gly621=)	Holoprosencephaly 11 [RCV005081415]	likely benign	11	126004065	126004065	Human	1	name
597840218	CV3756051	single nucleotide variant	NM_001378964.1(CDON):c.2199A>G (p.Ser733=)	Holoprosencephaly 11 [RCV005086323]	likely benign	11	125997370	125997370	Human	1	name
597865480	CV3792649	single nucleotide variant	NM_001378964.1(CDON):c.1200C>T (p.Asp400=)	Holoprosencephaly 11 [RCV005147456]	likely benign	11	126010693	126010693	Human	1	name
597974996	CV3798666	single nucleotide variant	NM_001378964.1(CDON):c.2313A>G (p.Glu771=)	Holoprosencephaly 11 [RCV005144254]	likely benign	11	125997256	125997256	Human	1	name
597931533	CV3827116	single nucleotide variant	NM_001378964.1(CDON):c.2232G>A (p.Arg744=)	Holoprosencephaly 11 [RCV005157129]	likely benign	11	125997337	125997337	Human	1	name
598125618	CV3885851	single nucleotide variant	NM_001378964.1(CDON):c.283T>C (p.Tyr95His)	not provided [RCV005241654]	uncertain significance	11	126021314	126021314	Human		name
598159564	CV3897114	single nucleotide variant	NM_001378964.1(CDON):c.253C>A (p.Leu85Ile)	not provided [RCV005368088]	uncertain significance	11	126021344	126021344	Human		name
15142274	CV687719	single nucleotide variant	NM_001378964.1(CDON):c.1263T>C (p.Phe421=)	Holoprosencephaly 11 [RCV001107564]	likely benign	11	126010630	126010630	Human	1	name
15143105	CV692957	single nucleotide variant	NM_001378964.1(CDON):c.2139T>C (p.Asp713=)	Holoprosencephaly 11 [RCV002064898]	benign	11	126001738	126001738	Human	1	name
15117362	CV692960	single nucleotide variant	NM_001378964.1(CDON):c.1302G>A (p.Pro434=)	Holoprosencephaly 11 [RCV001107563]\|not provided [RCV000873486]	likely benign	11	126010591	126010591	Human	1	name
15113263	CV692961	single nucleotide variant	NM_001378964.1(CDON):c.1089C>T (p.Asn363=)	CDON-related disorder [RCV003955691]\|Holoprosencephaly 11 [RCV001457726]	likely benign	11	126015350	126015350	Human	1	name , trait , alternate_id
15107599	CV692962	single nucleotide variant	NM_001378964.1(CDON):c.1069C>A (p.Arg357=)	CDON-related disorder [RCV004740473]\|Holoprosencephaly 11 [RCV002064677]\|not provided [RCV000871537]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	126015370	126015370	Human	1	name , trait , alternate_id
15192547	CV701651	single nucleotide variant	NM_001378964.1(CDON):c.1041C>T (p.His347=)	CDON-related disorder [RCV003978276]\|Holoprosencephaly 11 [RCV000955104]\|not provided [RCV004705968]	likely benign	11	126015398	126015398	Human	1	name , trait , alternate_id
15193442	CV752526	single nucleotide variant	NM_001378964.1(CDON):c.1347A>G (p.Pro449=)	not provided [RCV000910840]	likely benign	11	126010546	126010546	Human		name
15116082	CV768292	single nucleotide variant	NM_001378964.1(CDON):c.1233A>C (p.Pro411=)	not provided [RCV000939602]	likely benign	11	126010660	126010660	Human		name
28907854	CV867520	single nucleotide variant	NM_001378964.1(CDON):c.2859G>T (p.Gly953=)	CDON-related disorder [RCV003963050]\|Holoprosencephaly 11 [RCV001107452]	likely benign\|uncertain significance	11	125984008	125984008	Human	1	name , trait , alternate_id
28907855	CV867521	single nucleotide variant	NM_001378964.1(CDON):c.2836T>C (p.Leu946=)	Holoprosencephaly 11 [RCV001107453]\|not provided [RCV003425933]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	125984031	125984031	Human	1	name
28907857	CV867522	single nucleotide variant	NM_001378964.1(CDON):c.2763C>T (p.Cys921=)	Holoprosencephaly 11 [RCV001107454]	conflicting interpretations of pathogenicity\|uncertain significance	11	125989647	125989647	Human	1	name
28900430	CV867526	single nucleotide variant	NM_001378964.1(CDON):c.2403T>C (p.Tyr801=)	Holoprosencephaly 11 [RCV001103830]	uncertain significance	11	125995012	125995012	Human	1	name
34891422	CV904552	single nucleotide variant	NM_001378964.1(CDON):c.1890G>C (p.Thr630=)	not provided [RCV001172055]	likely benign	11	126004038	126004038	Human		name
127287654	CV1121147	single nucleotide variant	NM_001378964.1(CDON):c.3576C>T (p.Asp1192=)	Holoprosencephaly 11 [RCV001450180]	likely benign	11	125961779	125961779	Human	1	name
150491057	CV1222695	insertion	NM_001378964.1(CDON):c.350-236_350-235insAA	not provided [RCV001618755]	benign	11	126020000	126020001	Human		name
150509435	CV1229888	microsatellite	NM_001378964.1(CDON):c.2158+201_2158+202del	not provided [RCV001636468]	benign	11	126001517	126001518	Human		name
151878652	CV1409921	single nucleotide variant	NM_001378964.1(CDON):c.371C>T (p.Ser124Phe)	Holoprosencephaly 11 [RCV001940715]\|Inborn genetic diseases [RCV004044026]	uncertain significance	11	126019744	126019744	Human	2	name
151739579	CV1412803	single nucleotide variant	NM_001378964.1(CDON):c.305G>A (p.Ser102Asn)	Holoprosencephaly 11 [RCV001926335]	uncertain significance	11	126021292	126021292	Human	1	name
151870485	CV1417054	single nucleotide variant	NM_001378964.1(CDON):c.620G>A (p.Gly207Asp)	Holoprosencephaly 11 [RCV001998267]	uncertain significance	11	126018350	126018350	Human	1	name
151783737	CV1474478	single nucleotide variant	NM_001378964.1(CDON):c.469C>T (p.Arg157Trp)	Holoprosencephaly 11 [RCV001930681]	uncertain significance	11	126019646	126019646	Human	1	name
152041480	CV1568422	single nucleotide variant	NM_001378964.1(CDON):c.3099C>T (p.His1033=)	CDON-related disorder [RCV003958701]\|Holoprosencephaly 11 [RCV002107804]	likely benign	11	125981226	125981226	Human	1	name , trait , alternate_id
9692769	CV177003	single nucleotide variant	NM_001378964.1(CDON):c.401A>C (p.Lys134Thr)	not provided [RCV000152961]	uncertain significance	11	126019714	126019714	Human		name
155727586	CV1773776	single nucleotide variant	NM_001378964.1(CDON):c.811T>G (p.Leu271Val)	Holoprosencephaly 11 [RCV002301545]	uncertain significance	11	126017205	126017205	Human	1	name
155671500	CV1775997	single nucleotide variant	NM_001378964.1(CDON):c.552G>C (p.Glu184Asp)	Holoprosencephaly 11 [RCV002297429]	uncertain significance	11	126018418	126018418	Human	1	name
155750138	CV1779603	single nucleotide variant	NM_001378964.1(CDON):c.866C>T (p.Ser289Phe)	Holoprosencephaly 11 [RCV002305391]	uncertain significance	11	126017150	126017150	Human	1	name
155797297	CV1859278	single nucleotide variant	NM_001378964.1(CDON):c.976G>T (p.Gly326Cys)	not provided [RCV002464906]	uncertain significance	11	126015463	126015463	Human		name
156126863	CV1889108	single nucleotide variant	NM_001378964.1(CDON):c.979G>A (p.Ala327Thr)	Holoprosencephaly 11 [RCV003081672]	uncertain significance	11	126015460	126015460	Human	1	name
155971937	CV2062526	single nucleotide variant	NM_001378964.1(CDON):c.953T>C (p.Leu318Pro)	Holoprosencephaly 11 [RCV002842119]	uncertain significance	11	126015486	126015486	Human	1	name
156184585	CV2102607	single nucleotide variant	NM_001378964.1(CDON):c.746C>T (p.Pro249Leu)	Holoprosencephaly 11 [RCV002917256]\|not provided [RCV003427517]	uncertain significance	11	126017270	126017270	Human	1	name
156229847	CV2235008	single nucleotide variant	NM_001378964.1(CDON):c.931C>T (p.His311Tyr)	Inborn genetic diseases [RCV002767582]	uncertain significance	11	126015508	126015508	Human	1	name
155999229	CV2261067	single nucleotide variant	NM_001378964.1(CDON):c.877G>A (p.Gly293Arg)	Inborn genetic diseases [RCV002794362]	uncertain significance	11	126017139	126017139	Human	1	name
156094634	CV2310029	single nucleotide variant	NM_001378964.1(CDON):c.809G>T (p.Arg270Met)	Inborn genetic diseases [RCV002888240]	uncertain significance	11	126017207	126017207	Human	1	name
243055067	CV2407239	single nucleotide variant	NM_001378964.1(CDON):c.644C>G (p.Pro215Arg)	Holoprosencephaly 11 [RCV003144789]\|Inborn genetic diseases [RCV004246116]	likely benign\|uncertain significance	11	126017372	126017372	Human	2	name
11546372	CV254033	single nucleotide variant	NM_001378964.1(CDON):c.3549C>T (p.Val1183=)	Holoprosencephaly 11 [RCV000339200]\|not provided [RCV001668549]\|not specified [RCV000246379]	benign	11	125961806	125961806	Human	2	name
11546372	CV254033	single nucleotide variant	NM_001378964.1(CDON):c.3549C>T (p.Val1183=)	Holoprosencephaly 11 [RCV000339200]\|not provided [RCV001668549]\|not specified [RCV000246379]	benign	11	125961806	125961807	Human	2	name
11547802	CV254035	single nucleotide variant	NM_001378964.1(CDON):c.3294G>A (p.Thr1098=)	Holoprosencephaly 11 [RCV000406665]\|not provided [RCV001651217]\|not specified [RCV000248241]	benign	11	125978366	125978366	Human	1	name
11544368	CV254036	single nucleotide variant	NM_001378964.1(CDON):c.3165T>C (p.Asn1055=)	Holoprosencephaly 11 [RCV000368917]\|not provided [RCV001618452]\|not specified [RCV000243699]	benign	11	125981160	125981160	Human	1	name
11550396	CV254037	single nucleotide variant	NM_001378964.1(CDON):c.3039C>T (p.Asn1013=)	Holoprosencephaly 11 [RCV000365454]\|not provided [RCV001618451]\|not specified [RCV000251705]	benign	11	125981286	125981286	Human	1	name
11545941	CV254052	single nucleotide variant	NM_001378964.1(CDON):c.484G>A (p.Glu162Lys)	Holoprosencephaly 11 [RCV000342822]\|not provided [RCV001651219]\|not specified [RCV000245816]	benign\|likely benign	11	126019631	126019631	Human	2	name
11545941	CV254052	single nucleotide variant	NM_001378964.1(CDON):c.484G>A (p.Glu162Lys)	Holoprosencephaly 11 [RCV000342822]\|not provided [RCV001651219]\|not specified [RCV000245816]	benign\|likely benign	11	126019631	126019632	Human	2	name
329954712	CV2670641	single nucleotide variant	NM_001378964.1(CDON):c.442C>T (p.Pro148Ser)	not provided [RCV003235909]	uncertain significance	11	126019673	126019673	Human		name
401830347	CV2748073	single nucleotide variant	NM_001378964.1(CDON):c.581A>G (p.Tyr194Cys)	not provided [RCV003329680]	uncertain significance	11	126018389	126018389	Human		name
401934044	CV2802685	single nucleotide variant	NM_001378964.1(CDON):c.985G>A (p.Val329Ile)	CDON-related disorder [RCV003410903]	uncertain significance	11	126015454	126015454	Human		name , trait , alternate_id
401910272	CV2809995	single nucleotide variant	NM_001378964.1(CDON):c.3783C>A (p.Pro1261=)	not provided [RCV003424901]	likely benign	11	125960954	125960954	Human		name
401910276	CV2809999	single nucleotide variant	NM_001378964.1(CDON):c.765G>A (p.Trp255Ter)	not provided [RCV003424905]	uncertain significance	11	126017251	126017251	Human		name
401917185	CV2829709	single nucleotide variant	NM_001378964.1(CDON):c.774C>A (p.Asp258Glu)	not provided [RCV003443753]	uncertain significance	11	126017242	126017242	Human		name
405030050	CV2892878	single nucleotide variant	NM_001378964.1(CDON):c.844C>A (p.Pro282Thr)	Holoprosencephaly 11 [RCV003529324]	uncertain significance	11	126017172	126017172	Human	1	name
405034077	CV2897457	single nucleotide variant	NM_001378964.1(CDON):c.441C>G (p.Asn147Lys)	Holoprosencephaly 11 [RCV003529680]	uncertain significance	11	126019674	126019674	Human	1	name
405017973	CV2929710	single nucleotide variant	NM_001378964.1(CDON):c.359A>G (p.Asp120Gly)	Holoprosencephaly 11 [RCV003527931]	uncertain significance	11	126019756	126019756	Human	1	name
405193867	CV2948906	single nucleotide variant	NM_001378964.1(CDON):c.3762G>T (p.Pro1254=)	Holoprosencephaly 11 [RCV003641206]	likely benign	11	125960975	125960975	Human	1	name
405194415	CV2954394	single nucleotide variant	NM_001378964.1(CDON):c.379C>G (p.His127Asp)	Holoprosencephaly 11 [RCV003641268]	uncertain significance	11	126019736	126019736	Human	1	name
405187913	CV3006641	single nucleotide variant	NM_001378964.1(CDON):c.896T>C (p.Val299Ala)	Holoprosencephaly 11 [RCV003640454]	uncertain significance	11	126017120	126017120	Human	1	name
405201077	CV3075360	single nucleotide variant	NM_001378964.1(CDON):c.775G>A (p.Gly259Arg)	Holoprosencephaly 11 [RCV003642199]	uncertain significance	11	126017241	126017241	Human	1	name
405201878	CV3076694	single nucleotide variant	NM_001378964.1(CDON):c.968T>C (p.Val323Ala)	Holoprosencephaly 11 [RCV003642296]	uncertain significance	11	126015471	126015471	Human	1	name
11635243	CV319219	microsatellite	NM_001378964.1(CDON):c.2376_2377insCATATA	Holoprosencephaly sequence [RCV000320315]	uncertain significance	11	125958565	125958566	Human		name
11610229	CV319279	single nucleotide variant	NM_001378964.1(CDON):c.3588C>T (p.Asp1196=)	CDON-related disorder [RCV003940148]\|Holoprosencephaly 11 [RCV000870979]	benign\|likely benign	11	125961767	125961767	Human	1	name , trait , alternate_id
11606797	CV319280	single nucleotide variant	NM_001378964.1(CDON):c.3297C>T (p.Ala1099=)	Holoprosencephaly 11 [RCV000335640]	uncertain significance	11	125978363	125978363	Human	1	name
405259250	CV3194660	single nucleotide variant	NM_001378964.1(CDON):c.3027A>T (p.Gly1009=)	CDON-related disorder [RCV003894052]	likely benign	11	125981298	125981298	Human		name , trait , alternate_id
11620941	CV325440	single nucleotide variant	NM_001378964.1(CDON):c.3603C>A (p.Gly1201=)	Holoprosencephaly 11 [RCV000342588]	uncertain significance	11	125961752	125961752	Human	1	name
11651555	CV325441	single nucleotide variant	NM_001378964.1(CDON):c.3312C>T (p.Asp1104=)	Holoprosencephaly 11 [RCV000299415]	uncertain significance	11	125978348	125978348	Human	1	name
405743006	CV3293102	single nucleotide variant	NM_001378964.1(CDON):c.680A>G (p.His227Arg)	Inborn genetic diseases [RCV004431023]	uncertain significance	11	126017336	126017336	Human	1	name
405743015	CV3293103	single nucleotide variant	NM_001378964.1(CDON):c.845C>T (p.Pro282Leu)	Inborn genetic diseases [RCV004431024]	likely benign	11	126017171	126017171	Human	1	name
407460603	CV3418667	single nucleotide variant	NM_001378964.1(CDON):c.596A>G (p.His199Arg)	Inborn genetic diseases [RCV004612368]	likely benign	11	126018374	126018374	Human	1	name
407460628	CV3418675	single nucleotide variant	NM_001378964.1(CDON):c.596A>T (p.His199Leu)	Inborn genetic diseases [RCV004612376]	uncertain significance	11	126018374	126018374	Human	1	name
408381800	CV3524006	single nucleotide variant	NM_001378964.1(CDON):c.501T>G (p.Asn167Lys)	not provided [RCV004766404]	uncertain significance	11	126018469	126018469	Human		name
597865419	CV3742320	single nucleotide variant	NM_001378964.1(CDON):c.3111A>G (p.Leu1037=)	Holoprosencephaly 11 [RCV005067936]	likely benign	11	125981214	125981214	Human	1	name
597964899	CV3750992	single nucleotide variant	NM_001378964.1(CDON):c.3511T>C (p.Leu1171=)	Holoprosencephaly 11 [RCV005082554]	likely benign	11	125961844	125961844	Human	1	name
597972857	CV3790783	single nucleotide variant	NM_001378964.1(CDON):c.3762G>A (p.Pro1254=)	Holoprosencephaly 11 [RCV005142998]	likely benign	11	125960975	125960975	Human	1	name
597951296	CV3815331	single nucleotide variant	NM_001378964.1(CDON):c.980C>T (p.Ala327Val)	Holoprosencephaly 11 [RCV005161281]	uncertain significance	11	126015459	126015459	Human	1	name
597842009	CV3825627	duplication	NM_001378964.1(CDON):c.1757dup (p.Gln587fs)	Holoprosencephaly 11 [RCV005172310]	uncertain significance	11	126005852	126005853	Human	1	name
598126411	CV3886256	single nucleotide variant	NM_001378964.1(CDON):c.875C>A (p.Ala292Glu)	not provided [RCV005242059]	uncertain significance	11	126017141	126017141	Human		name
598215296	CV3890819	single nucleotide variant	NM_001378964.1(CDON):c.587C>T (p.Pro196Leu)	not provided [RCV005251672]	uncertain significance	11	126018383	126018383	Human		name
598240709	CV3940377	single nucleotide variant	NM_001378964.1(CDON):c.931C>A (p.His311Asn)	Inborn genetic diseases [RCV005321426]	uncertain significance	11	126015508	126015508	Human	1	name
598193466	CV3940384	single nucleotide variant	NM_001378964.1(CDON):c.721T>G (p.Leu241Val)	Inborn genetic diseases [RCV005312988]	uncertain significance	11	126017295	126017295	Human	1	name
598193471	CV3940385	single nucleotide variant	NM_001378964.1(CDON):c.836G>A (p.Ser279Asn)	Inborn genetic diseases [RCV005312989]	uncertain significance	11	126017180	126017180	Human	1	name
12899275	CV408300	single nucleotide variant	NM_001378964.1(CDON):c.983C>T (p.Thr328Ile)	not provided [RCV000479834]	uncertain significance	11	126015456	126015456	Human		name
12900118	CV408301	single nucleotide variant	NM_001378964.1(CDON):c.791C>A (p.Pro264Gln)	Holoprosencephaly 11 [RCV001103943]\|Inborn genetic diseases [RCV002525909]\|not provided [RCV000481702]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	126017225	126017225	Human	2	name
13622290	CV526130	single nucleotide variant	NM_001378964.1(CDON):c.881A>G (p.Asn294Ser)	Holoprosencephaly 11 [RCV000649536]	uncertain significance	11	126017135	126017135	Human	1	name
14693464	CV620392	duplication	NM_001378964.1(CDON):c.2960dup (p.Cys987fs)	Holoprosencephaly 11 [RCV000779051]	uncertain significance	11	125983906	125983907	Human		name
15040511	CV625776	single nucleotide variant	NM_001378964.1(CDON):c.622C>T (p.Arg208Ter)	Congenital ocular coloboma [RCV000856830]	likely pathogenic	11	126018348	126018348	Human	1	name
14712521	CV639817	single nucleotide variant	NM_001378964.1(CDON):c.634G>T (p.Val212Leu)	Holoprosencephaly 11 [RCV000821138]	uncertain significance	11	126018336	126018336	Human	1	name
15108707	CV692954	single nucleotide variant	NM_001378964.1(CDON):c.3459T>C (p.Ser1153=)	CDON-related disorder [RCV003938306]\|Holoprosencephaly 11 [RCV002064679]	benign	11	125961896	125961896	Human	1	name , trait , alternate_id
15183244	CV701650	single nucleotide variant	NM_001378964.1(CDON):c.3726A>C (p.Thr1242=)	Holoprosencephaly 11 [RCV000952418]\|not provided [RCV003424492]	benign\|likely benign	11	125961011	125961011	Human	1	name
15182020	CV712699	single nucleotide variant	NM_001378964.1(CDON):c.3489C>T (p.Ser1163=)	not provided [RCV000974533]	likely benign	11	125961866	125961866	Human		name
15131907	CV712700	single nucleotide variant	NM_001378964.1(CDON):c.3213C>T (p.Ser1071=)	Holoprosencephaly 11 [RCV002066389]	likely benign	11	125981112	125981112	Human	1	name
15108223	CV712701	single nucleotide variant	NM_001378964.1(CDON):c.3120C>T (p.Gly1040=)	CDON-related disorder [RCV003897938]\|Holoprosencephaly 11 [RCV003640946]	likely benign	11	125981205	125981205	Human	1	name , trait , alternate_id
15114070	CV737843	single nucleotide variant	NM_001378964.1(CDON):c.3516G>A (p.Pro1172=)	Holoprosencephaly 11 [RCV005092650]	likely benign	11	125961839	125961839	Human	1	name
15163635	CV752524	single nucleotide variant	NM_001378964.1(CDON):c.3477A>G (p.Val1159=)	not provided [RCV000926176]	likely benign	11	125961878	125961878	Human		name
15144882	CV752525	single nucleotide variant	NM_001378964.1(CDON):c.3156G>A (p.Lys1052=)	Holoprosencephaly 11 [RCV000922445]	benign	11	125981169	125981169	Human	1	name
15138432	CV783905	single nucleotide variant	NM_001378964.1(CDON):c.3771C>T (p.Val1257=)	not provided [RCV000982470]	likely benign	11	125960966	125960966	Human		name
28901389	CV867529	single nucleotide variant	NM_001378964.1(CDON):c.424A>T (p.Arg142Trp)	Holoprosencephaly 11 [RCV001104225]\|Inborn genetic diseases [RCV004609627]	uncertain significance	11	126019691	126019691	Human	2	name
38460390	CV919336	deletion	NM_001378964.1(CDON):c.2238del (p.Asn746fs)	Holoprosencephaly 11 [RCV001196512]	uncertain significance	11	125997331	125997331	Human	1	name
126761036	CV1009575	single nucleotide variant	NM_001378964.1(CDON):c.1718G>A (p.Gly573Asp)	Holoprosencephaly 11 [RCV001318517]	uncertain significance	11	126005892	126005892	Human	1	name
126738505	CV1017402	single nucleotide variant	NM_001378964.1(CDON):c.1717G>A (p.Gly573Ser)	Holoprosencephaly 11 [RCV001328974]	uncertain significance	11	126005893	126005893	Human		name
126919832	CV1047105	single nucleotide variant	NM_001378964.1(CDON):c.2191A>G (p.Thr731Ala)	Holoprosencephaly 11 [RCV001373453]	uncertain significance	11	125997378	125997378	Human	1	name
126908298	CV1052697	single nucleotide variant	NM_001378964.1(CDON):c.1109T>C (p.Val370Ala)	Peripheral precocious puberty [RCV001374425]	uncertain significance	11	126015330	126015330	Human	1	name
150337512	CV1165984	single nucleotide variant	NM_001378964.1(CDON):c.2083A>G (p.Lys695Glu)	not provided [RCV001532673]	uncertain significance	11	126001794	126001794	Human		name
150550996	CV1292381	single nucleotide variant	NM_001378964.1(CDON):c.2189C>T (p.Ser730Phe)	not provided [RCV001753988]	uncertain significance	11	125997380	125997380	Human		name
150533462	CV1294222	single nucleotide variant	NM_001378964.1(CDON):c.1136A>G (p.Gln379Arg)	not provided [RCV001758240]	uncertain significance	11	126015303	126015303	Human		name
150553227	CV1298264	single nucleotide variant	NM_001378964.1(CDON):c.2056G>T (p.Ala686Ser)	not provided [RCV001768878]	uncertain significance	11	126001821	126001821	Human		name
151776393	CV1342588	single nucleotide variant	NM_001378964.1(CDON):c.2770A>G (p.Lys924Glu)	Holoprosencephaly 11 [RCV001988724]\|not provided [RCV003426276]	likely benign\|uncertain significance	11	125989640	125989640	Human	1	name
151824310	CV1349575	single nucleotide variant	NM_001378964.1(CDON):c.2071G>T (p.Val691Leu)	Holoprosencephaly 11 [RCV001934449]	uncertain significance	11	126001806	126001806	Human	1	name
151873521	CV1359678	single nucleotide variant	NM_001378964.1(CDON):c.1025A>G (p.Asn342Ser)	CDON-related disorder [RCV003913479]\|Holoprosencephaly 11 [RCV002019247]\|Inborn genetic diseases [RCV002642017]	likely benign\|uncertain significance	11	126015414	126015414	Human	2	name , trait , alternate_id
151846132	CV1395232	single nucleotide variant	NM_001378964.1(CDON):c.1404G>T (p.Leu468Phe)	Holoprosencephaly 11 [RCV001995358]	uncertain significance	11	126010489	126010489	Human	1	name
151892862	CV1411527	single nucleotide variant	NM_001378964.1(CDON):c.1664C>T (p.Pro555Leu)	Holoprosencephaly 11 [RCV001944554]	uncertain significance	11	126005946	126005946	Human	1	name
151748215	CV1411981	single nucleotide variant	NM_001378964.1(CDON):c.2230C>T (p.Arg744Trp)	Holoprosencephaly 11 [RCV001927230]	uncertain significance	11	125997339	125997339	Human	1	name
151769833	CV1460327	single nucleotide variant	NM_001378964.1(CDON):c.2624G>A (p.Ser875Asn)	Holoprosencephaly 11 [RCV001863969]\|not provided [RCV003327526]	uncertain significance	11	125994310	125994310	Human	1	name
151869666	CV1475258	single nucleotide variant	NM_001378964.1(CDON):c.1255G>A (p.Gly419Arg)	Holoprosencephaly 11 [RCV001960256]\|not provided [RCV004694030]	uncertain significance	11	126010638	126010638	Human	1	name
151788276	CV1487270	single nucleotide variant	NM_001378964.1(CDON):c.1951T>C (p.Tyr651His)	Holoprosencephaly 11 [RCV001897922]\|Inborn genetic diseases [RCV003348581]	uncertain significance	11	126003977	126003977	Human	2	name
151838050	CV1487316	single nucleotide variant	NM_001378964.1(CDON):c.1699C>T (p.Pro567Ser)	Holoprosencephaly 11 [RCV001935771]	uncertain significance	11	126005911	126005911	Human	1	name
151710784	CV1500762	single nucleotide variant	NM_001378964.1(CDON):c.1220T>C (p.Ile407Thr)	Holoprosencephaly 11 [RCV002001918]\|Holoprosencephaly spectrum disorder [RCV002260523]	uncertain significance	11	126010673	126010673	Human	2	name
155642247	CV1706203	single nucleotide variant	NM_001378964.1(CDON):c.1099A>T (p.Ile367Phe)	not provided [RCV002287066]	uncertain significance	11	126015340	126015340	Human		name
155748787	CV1772343	single nucleotide variant	NM_001378964.1(CDON):c.2282T>C (p.Met761Thr)	Holoprosencephaly 11 [RCV002303918]	uncertain significance	11	125997287	125997287	Human	1	name
155737830	CV1774629	single nucleotide variant	NM_001378964.1(CDON):c.2467T>C (p.Ser823Pro)	Holoprosencephaly 11 [RCV002302083]	uncertain significance	11	125994948	125994948	Human	1	name
155720940	CV1776424	single nucleotide variant	NM_001378964.1(CDON):c.1387T>A (p.Ser463Thr)	Holoprosencephaly 11 [RCV002296698]	uncertain significance	11	126010506	126010506	Human	1	name
155803577	CV1858139	single nucleotide variant	NM_001378964.1(CDON):c.1133A>G (p.Tyr378Cys)	not provided [RCV002462448]	uncertain significance	11	126015306	126015306	Human		name
155803626	CV1858189	deletion	NM_001378964.1(CDON):c.3474del (p.Val1159fs)	not provided [RCV002462498]	uncertain significance	11	125961881	125961881	Human		name
155800794	CV1860284	single nucleotide variant	NM_001378964.1(CDON):c.1177G>A (p.Gly393Arg)	Holoprosencephaly 11 [RCV002466925]	uncertain significance	11	126015262	126015262	Human	1	name
156384125	CV1883404	single nucleotide variant	NM_001378964.1(CDON):c.2036C>A (p.Ala679Glu)	Holoprosencephaly 11 [RCV003093536]	likely benign	11	126001841	126001841	Human	1	name
155966810	CV1892289	single nucleotide variant	NM_001378964.1(CDON):c.1989A>T (p.Glu663Asp)	Holoprosencephaly 11 [RCV003074972]\|Inborn genetic diseases [RCV004963399]	uncertain significance	11	126003939	126003939	Human	2	name
156386029	CV1893958	single nucleotide variant	NM_001378964.1(CDON):c.2092G>A (p.Val698Ile)	Holoprosencephaly 11 [RCV003093693]	uncertain significance	11	126001785	126001785	Human	1	name
10049749	CV190887	single nucleotide variant	NM_001378964.1(CDON):c.1855G>C (p.Asp619His)	Holoprosencephaly 11 [RCV001089394]\|Inborn genetic diseases [RCV002516603]\|not provided [RCV000512644]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	126004073	126004073	Human	2	name
156441583	CV1940906	single nucleotide variant	NM_001378964.1(CDON):c.2467T>G (p.Ser823Ala)	Holoprosencephaly 11 [RCV003111911]	uncertain significance	11	125994948	125994948	Human	1	name
156243990	CV1973331	single nucleotide variant	NM_001378964.1(CDON):c.2546A>C (p.Tyr849Ser)	Holoprosencephaly 11 [RCV002597241]	uncertain significance	11	125994388	125994388	Human	1	name
156327654	CV1982313	single nucleotide variant	NM_001378964.1(CDON):c.1280A>G (p.Asn427Ser)	Holoprosencephaly 11 [RCV002649646]	uncertain significance	11	126010613	126010613	Human	1	name
156266160	CV2030466	single nucleotide variant	NM_001378964.1(CDON):c.2348G>A (p.Arg783His)	CDON-related disorder [RCV003418602]\|Holoprosencephaly 11 [RCV002746478]	uncertain significance	11	125997221	125997221	Human	1	name , trait , alternate_id
155979078	CV2073259	single nucleotide variant	NM_001378964.1(CDON):c.1320C>G (p.Asp440Glu)	Holoprosencephaly 11 [RCV002842428]	uncertain significance	11	126010573	126010573	Human	1	name
155926477	CV2099606	single nucleotide variant	NM_001378964.1(CDON):c.1687G>T (p.Val563Leu)	Holoprosencephaly 11 [RCV002903598]	uncertain significance	11	126005923	126005923	Human	1	name
156218867	CV2107199	single nucleotide variant	NM_001378964.1(CDON):c.2278C>T (p.Arg760Trp)	Holoprosencephaly 11 [RCV002918478]\|Inborn genetic diseases [RCV002918479]	uncertain significance	11	125997291	125997291	Human	2	name
156133729	CV2118869	single nucleotide variant	NM_001378964.1(CDON):c.1943C>T (p.Ser648Phe)	Holoprosencephaly 11 [RCV002953973]	uncertain significance	11	126003985	126003985	Human	1	name
156137722	CV2141299	single nucleotide variant	NM_001378964.1(CDON):c.1123G>T (p.Val375Phe)	Holoprosencephaly 11 [RCV002982199]	uncertain significance	11	126015316	126015316	Human	1	name
156084822	CV2205615	single nucleotide variant	NM_001378964.1(CDON):c.1157T>C (p.Ile386Thr)	Inborn genetic diseases [RCV002661004]	uncertain significance	11	126015282	126015282	Human	1	name
156126645	CV2223700	single nucleotide variant	NM_001378964.1(CDON):c.2279G>T (p.Arg760Leu)	Inborn genetic diseases [RCV002708191]\|not provided [RCV003229938]	uncertain significance	11	125997290	125997290	Human	1	name
156171366	CV2247441	single nucleotide variant	NM_001378964.1(CDON):c.1846C>T (p.Arg616Ter)	Inborn genetic diseases [RCV002788075]	uncertain significance	11	126005764	126005764	Human	1	name
156007525	CV2289147	single nucleotide variant	NM_001378964.1(CDON):c.1298T>C (p.Val433Ala)	Inborn genetic diseases [RCV002865904]	uncertain significance	11	126010595	126010595	Human	1	name
156198105	CV2293645	single nucleotide variant	NM_001378964.1(CDON):c.1529A>G (p.Gln510Arg)	Inborn genetic diseases [RCV002874651]	uncertain significance	11	126010364	126010364	Human	1	name
156175564	CV2317244	single nucleotide variant	NM_001378964.1(CDON):c.2213A>G (p.Tyr738Cys)	Inborn genetic diseases [RCV002916813]	uncertain significance	11	125997356	125997356	Human	1	name
155922333	CV2350812	single nucleotide variant	NM_001378964.1(CDON):c.1771C>T (p.Pro591Ser)	Inborn genetic diseases [RCV002992131]	uncertain significance	11	126005839	126005839	Human	1	name
156198601	CV2365142	single nucleotide variant	NM_001378964.1(CDON):c.1484C>T (p.Ala495Val)	Inborn genetic diseases [RCV002985061]	uncertain significance	11	126010409	126010409	Human	1	name
156059972	CV2383591	single nucleotide variant	NM_001378964.1(CDON):c.2383G>A (p.Val795Ile)	Holoprosencephaly 11 [RCV003143570]\|Inborn genetic diseases [RCV002693359]	likely benign\|uncertain significance	11	125995032	125995032	Human	2	name
243050693	CV2419664	single nucleotide variant	NM_001378964.1(CDON):c.1810G>T (p.Gly604Cys)	not provided [RCV003156596]	uncertain significance	11	126005800	126005800	Human		name
329351147	CV2477946	single nucleotide variant	NM_001378964.1(CDON):c.2075G>T (p.Gly692Val)	not provided [RCV003224059]	uncertain significance	11	126001802	126001802	Human		name
11544736	CV254039	single nucleotide variant	NM_001378964.1(CDON):c.2623A>G (p.Ser875Gly)	CDON-related disorder [RCV003891954]\|Holoprosencephaly 11 [RCV000541610]\|not provided [RCV001539580]	benign\|likely benign	11	125994311	125994311	Human	1	name , trait , alternate_id
11547429	CV254043	single nucleotide variant	NM_001378964.1(CDON):c.2057C>T (p.Ala686Val)	Holoprosencephaly 11 [RCV000373562]\|not provided [RCV001640553]\|not specified [RCV000247746]	benign\|likely benign	11	126001820	126001820	Human	1	name
11551374	CV254047	single nucleotide variant	NM_001378964.1(CDON):c.1051C>G (p.Pro351Ala)	Holoprosencephaly 11 [RCV000528237]\|not provided [RCV002285297]\|not specified [RCV000252968]	benign\|likely benign	11	126015388	126015388	Human	1	name
329953444	CV2668423	single nucleotide variant	NM_001378964.1(CDON):c.2665C>A (p.His889Asn)	not provided [RCV003230076]	uncertain significance	11	125989745	125989745	Human		name
329953896	CV2669235	single nucleotide variant	NM_001378964.1(CDON):c.1442G>A (p.Gly481Asp)	not provided [RCV003231740]	uncertain significance	11	126010451	126010451	Human		name
401724906	CV2672333	single nucleotide variant	NM_001378964.1(CDON):c.2839G>C (p.Gly947Arg)	not provided [RCV003239234]	uncertain significance	11	125984028	125984028	Human		name
401721089	CV2673596	single nucleotide variant	NM_001378964.1(CDON):c.1439C>T (p.Ala480Val)	Inborn genetic diseases [RCV003244300]	uncertain significance	11	126010454	126010454	Human	1	name
401734825	CV2706550	single nucleotide variant	NM_001378964.1(CDON):c.1449C>G (p.Ser483Arg)	Inborn genetic diseases [RCV003272724]	uncertain significance	11	126010444	126010444	Human	1	name
401777327	CV2721680	single nucleotide variant	NM_001378964.1(CDON):c.2849G>A (p.Gly950Glu)	Inborn genetic diseases [RCV003263512]	uncertain significance	11	125984018	125984018	Human	1	name
401798984	CV2741559	single nucleotide variant	NM_001378964.1(CDON):c.1780T>C (p.Tyr594His)	not provided [RCV003322967]	uncertain significance	11	126005830	126005830	Human		name
401830352	CV2748078	single nucleotide variant	NM_001378964.1(CDON):c.1135C>T (p.Gln379Ter)	not provided [RCV003329685]	uncertain significance	11	126015304	126015304	Human		name
401856458	CV2752524	single nucleotide variant	NM_001378964.1(CDON):c.2474G>A (p.Arg825His)	Holoprosencephaly 11 [RCV003340862]	uncertain significance	11	125994941	125994941	Human	1	name
401890941	CV2768838	single nucleotide variant	NM_001378964.1(CDON):c.2723A>G (p.Asn908Ser)	Inborn genetic diseases [RCV003369192]	uncertain significance	11	125989687	125989687	Human	1	name
401921380	CV2804582	single nucleotide variant	NM_001378964.1(CDON):c.1568A>G (p.Asn523Ser)	CDON-related disorder [RCV003402932]	uncertain significance	11	126006042	126006042	Human		name , trait , alternate_id
401910274	CV2809997	single nucleotide variant	NM_001378964.1(CDON):c.2936T>C (p.Ile979Thr)	not provided [RCV003424903]	uncertain significance	11	125983931	125983931	Human		name
401910275	CV2809998	single nucleotide variant	NM_001378964.1(CDON):c.1757C>A (p.Pro586Gln)	not provided [RCV003424904]	uncertain significance	11	126005853	126005853	Human		name
404977248	CV2849795	single nucleotide variant	NM_001378964.1(CDON):c.1576G>T (p.Ala526Ser)	Holoprosencephaly 11 [RCV003486035]	uncertain significance	11	126006034	126006034	Human	1	name
405030405	CV2886652	single nucleotide variant	NM_001378964.1(CDON):c.1619G>T (p.Arg540Ile)	Holoprosencephaly 11 [RCV003529377]	uncertain significance	11	126005991	126005991	Human	1	name
405029295	CV2889104	single nucleotide variant	NM_001378964.1(CDON):c.1619G>C (p.Arg540Thr)	Holoprosencephaly 11 [RCV003529283]	uncertain significance	11	126005991	126005991	Human	1	name
405031169	CV2893203	single nucleotide variant	NM_001378964.1(CDON):c.2128G>C (p.Val710Leu)	Holoprosencephaly 11 [RCV003529356]	uncertain significance	11	126001749	126001749	Human	1	name
405035263	CV2906664	single nucleotide variant	NM_001378964.1(CDON):c.2953G>A (p.Ala985Thr)	Holoprosencephaly 11 [RCV003529599]	uncertain significance	11	125983914	125983914	Human	1	name
405033800	CV2907644	single nucleotide variant	NM_001378964.1(CDON):c.2672T>C (p.Ile891Thr)	Holoprosencephaly 11 [RCV003529656]	uncertain significance	11	125989738	125989738	Human	1	name
405194022	CV2949275	single nucleotide variant	NM_001378964.1(CDON):c.2258C>T (p.Ala753Val)	Holoprosencephaly 11 [RCV003641223]	uncertain significance	11	125997311	125997311	Human	1	name
405196143	CV2976513	single nucleotide variant	NM_001378964.1(CDON):c.2711T>A (p.Met904Lys)	Holoprosencephaly 11 [RCV003641499]	uncertain significance	11	125989699	125989699	Human	1	name
405187680	CV3013088	single nucleotide variant	NM_001378964.1(CDON):c.2492A>G (p.His831Arg)	Holoprosencephaly 11 [RCV003640427]	uncertain significance	11	125994923	125994923	Human	1	name
405190086	CV3032099	single nucleotide variant	NM_001378964.1(CDON):c.1234G>T (p.Val412Leu)	Holoprosencephaly 11 [RCV003640713]\|Inborn genetic diseases [RCV005323535]	uncertain significance	11	126010659	126010659	Human	2	name
405190144	CV3040766	single nucleotide variant	NM_001378964.1(CDON):c.2242G>A (p.Gly748Ser)	Holoprosencephaly 11 [RCV003640720]	uncertain significance	11	125997327	125997327	Human	1	name
405191197	CV3050878	single nucleotide variant	NM_001378964.1(CDON):c.2074G>A (p.Gly692Ser)	Holoprosencephaly 11 [RCV003640858]\|Inborn genetic diseases [RCV004963780]	uncertain significance	11	126001803	126001803	Human	2	name
405200373	CV3058372	single nucleotide variant	NM_001378964.1(CDON):c.1808A>G (p.Asp603Gly)	Holoprosencephaly 11 [RCV003642089]	uncertain significance	11	126005802	126005802	Human	1	name
405200504	CV3061608	single nucleotide variant	NM_001378964.1(CDON):c.2420G>A (p.Ser807Asn)	Holoprosencephaly 11 [RCV003642106]	uncertain significance	11	125994995	125994995	Human	1	name
405200429	CV3068719	single nucleotide variant	NM_001378964.1(CDON):c.1373G>A (p.Arg458Gln)	Holoprosencephaly 11 [RCV003642096]	uncertain significance	11	126010520	126010520	Human	1	name
405202416	CV3074728	single nucleotide variant	NM_001378964.1(CDON):c.1043A>G (p.Asn348Ser)	Holoprosencephaly 11 [RCV003642344]	uncertain significance	11	126015396	126015396	Human	1	name
11599679	CV313182	single nucleotide variant	NM_001378964.1(CDON):c.2392A>G (p.Ile798Val)	Holoprosencephaly 11 [RCV000873692]	benign\|likely benign	11	125995023	125995023	Human	1	name
11605242	CV313184	single nucleotide variant	NM_001378964.1(CDON):c.1603G>A (p.Ala535Thr)	Holoprosencephaly 11 [RCV000536262]\|not provided [RCV001653483]	benign\|likely benign	11	126006007	126006007	Human	1	name
11612345	CV313194	single nucleotide variant	NM_001378964.1(CDON):c.1000G>C (p.Asp334His)	Holoprosencephaly 11 [RCV000407731]	uncertain significance	11	126015439	126015439	Human	1	name
11610379	CV319286	single nucleotide variant	NM_001378964.1(CDON):c.2429C>G (p.Ser810Cys)	Holoprosencephaly sequence [RCV000380663]	uncertain significance	11	125994986	125994986	Human	3	name
11605681	CV319288	single nucleotide variant	NM_001378964.1(CDON):c.2279G>A (p.Arg760Gln)	CDON-related disorder [RCV003920246]\|Holoprosencephaly 11 [RCV000870491]	benign\|likely benign	11	125997290	125997290	Human	1	name , trait , alternate_id
11610122	CV319289	single nucleotide variant	NM_001378964.1(CDON):c.2239G>A (p.Gly747Arg)	Holoprosencephaly 11 [RCV000377098]	uncertain significance	11	125997330	125997330	Human	1	name
11607859	CV319294	single nucleotide variant	NM_001378964.1(CDON):c.1940C>T (p.Pro647Leu)	Holoprosencephaly 11 [RCV000348456]\|not provided [RCV004705211]	benign\|likely benign\|uncertain significance	11	126003988	126003988	Human	1	name
11611136	CV319313	single nucleotide variant	NM_001378964.1(CDON):c.1889C>T (p.Thr630Met)	Holoprosencephaly 11 [RCV000390567]\|Inborn genetic diseases [RCV003343767]	likely benign\|uncertain significance	11	126004039	126004039	Human	2	name
11604012	CV319316	single nucleotide variant	NM_001378964.1(CDON):c.1826A>G (p.Asn609Ser)	Holoprosencephaly 11 [RCV000525030]\|Inborn genetic diseases [RCV002520695]	likely benign\|uncertain significance	11	126005784	126005784	Human	2	name
11644808	CV319322	single nucleotide variant	NM_001378964.1(CDON):c.1654A>G (p.Ser552Gly)	Holoprosencephaly 11 [RCV000262034]	uncertain significance	11	126005956	126005956	Human	1	name
11606425	CV319329	single nucleotide variant	NM_001378964.1(CDON):c.1414C>G (p.Pro472Ala)	CDON-related disorder [RCV003930282]\|Holoprosencephaly 11 [RCV000331298]\|not provided [RCV004705212]	benign\|likely benign\|uncertain significance	11	126010479	126010479	Human	1	name , trait , alternate_id
405655040	CV3228443	single nucleotide variant	NM_001378964.1(CDON):c.2504C>T (p.Thr835Ile)	not specified [RCV003995178]	uncertain significance	11	125994911	125994911	Human		name
11619499	CV325452	single nucleotide variant	NM_001378964.1(CDON):c.2462G>A (p.Arg821His)	CDON-related disorder [RCV003920245]\|Holoprosencephaly 11 [RCV000877156]\|Inborn genetic diseases [RCV004021502]\|not provided [RCV003422250]	benign\|likely benign\|uncertain significance	11	125994953	125994953	Human	2	name , trait , alternate_id
11616093	CV325463	single nucleotide variant	NM_001378964.1(CDON):c.1253A>T (p.Asp418Val)	Holoprosencephaly 11 [RCV000291413]	likely benign\|uncertain significance	11	126010640	126010640	Human	1	name
11614706	CV326403	single nucleotide variant	NM_001378964.1(CDON):c.2051C>G (p.Thr684Ser)	CDON-related disorder [RCV003920248]\|Holoprosencephaly 11 [RCV001087774]\|not provided [RCV000514212]	benign\|likely benign	11	126001826	126001826	Human	1	name , trait , alternate_id
11613516	CV326409	single nucleotide variant	NM_001378964.1(CDON):c.1847G>A (p.Arg616Gln)	Holoprosencephaly 11 [RCV000268824]\|Inborn genetic diseases [RCV002522185]	likely benign\|uncertain significance	11	126005763	126005763	Human	2	name
11613130	CV326411	single nucleotide variant	NM_001378964.1(CDON):c.1741A>G (p.Ile581Val)	Holoprosencephaly 11 [RCV000265457]\|not specified [RCV003387830]	uncertain significance	11	126005869	126005869	Human	1	name
405742943	CV3293092	single nucleotide variant	NM_001378964.1(CDON):c.1304T>C (p.Val435Ala)	Inborn genetic diseases [RCV004431013]	uncertain significance	11	126010589	126010589	Human	1	name
405742949	CV3293093	single nucleotide variant	NM_001378964.1(CDON):c.1412A>C (p.Glu471Ala)	Inborn genetic diseases [RCV004431014]	uncertain significance	11	126010481	126010481	Human	1	name
405742955	CV3293094	single nucleotide variant	NM_001378964.1(CDON):c.1474C>A (p.Gln492Lys)	Inborn genetic diseases [RCV004431015]	uncertain significance	11	126010419	126010419	Human	1	name
405742963	CV3293095	single nucleotide variant	NM_001378964.1(CDON):c.1582A>G (p.Thr528Ala)	Inborn genetic diseases [RCV004431016]	uncertain significance	11	126006028	126006028	Human	1	name
405742974	CV3293097	single nucleotide variant	NM_001378964.1(CDON):c.2243G>A (p.Gly748Asp)	Inborn genetic diseases [RCV004431018]	uncertain significance	11	125997326	125997326	Human	1	name
405742981	CV3293098	single nucleotide variant	NM_001378964.1(CDON):c.2416C>T (p.Arg806Trp)	Inborn genetic diseases [RCV004431019]	uncertain significance	11	125994999	125994999	Human	1	name
405742990	CV3293099	single nucleotide variant	NM_001378964.1(CDON):c.2854G>A (p.Val952Met)	Inborn genetic diseases [RCV004431020]	likely benign	11	125984013	125984013	Human	1	name
407460610	CV3418669	single nucleotide variant	NM_001378964.1(CDON):c.2459A>G (p.Asn820Ser)	Inborn genetic diseases [RCV004612370]	likely benign	11	125994956	125994956	Human	1	name
407460614	CV3418670	single nucleotide variant	NM_001378964.1(CDON):c.2128G>A (p.Val710Ile)	Inborn genetic diseases [RCV004612371]	uncertain significance	11	126001749	126001749	Human	1	name
407460615	CV3418671	single nucleotide variant	NM_001378964.1(CDON):c.2543C>G (p.Thr848Arg)	Inborn genetic diseases [RCV004612372]	uncertain significance	11	125994872	125994872	Human	1	name
407460631	CV3418676	single nucleotide variant	NM_001378964.1(CDON):c.1963A>G (p.Met655Val)	Inborn genetic diseases [RCV004612377]	uncertain significance	11	126003965	126003965	Human	1	name
407495692	CV3496559	single nucleotide variant	NM_001378964.1(CDON):c.1133A>T (p.Tyr378Phe)	not provided [RCV004696760]	uncertain significance	11	126015306	126015306	Human		name
408369290	CV3502775	single nucleotide variant	NM_001378964.1(CDON):c.2065C>T (p.Pro689Ser)	not provided [RCV004723896]	uncertain significance	11	126001812	126001812	Human		name
408390367	CV3519357	single nucleotide variant	NM_001378964.1(CDON):c.2764G>T (p.Glu922Ter)	not provided [RCV004762666]	uncertain significance	11	125989646	125989646	Human		name
408388332	CV3520732	single nucleotide variant	NM_001378964.1(CDON):c.2374A>G (p.Lys792Glu)	not provided [RCV004761565]	uncertain significance	11	125995041	125995041	Human		name
408391849	CV3523467	single nucleotide variant	NM_001378964.1(CDON):c.1834T>C (p.Phe612Leu)	not provided [RCV004770841]	uncertain significance	11	126005776	126005776	Human		name
408387018	CV3524348	single nucleotide variant	NM_001378964.1(CDON):c.2768C>T (p.Thr923Ile)	not provided [RCV004768222]	uncertain significance	11	125989642	125989642	Human		name
408390755	CV3527715	single nucleotide variant	NM_001378964.1(CDON):c.1817T>A (p.Leu606Gln)	not provided [RCV004774984]	uncertain significance	11	126005793	126005793	Human		name
408392718	CV3528257	single nucleotide variant	NM_001378964.1(CDON):c.2619T>G (p.Asn873Lys)	not provided [RCV004776025]	uncertain significance	11	125994315	125994315	Human		name
408385505	CV3528540	single nucleotide variant	NM_001378964.1(CDON):c.2963T>C (p.Leu988Pro)	not provided [RCV004772372]	uncertain significance	11	125983904	125983904	Human		name
408389247	CV3529290	single nucleotide variant	NM_001378964.1(CDON):c.1404G>C (p.Leu468Phe)	not provided [RCV004774112]	uncertain significance	11	126010489	126010489	Human		name
597654995	CV3648714	single nucleotide variant	NM_001378964.1(CDON):c.1464G>T (p.Gln488His)	Inborn genetic diseases [RCV004976304]	uncertain significance	11	126010429	126010429	Human	1	name
597655004	CV3648716	single nucleotide variant	NM_001378964.1(CDON):c.2036C>T (p.Ala679Val)	Inborn genetic diseases [RCV004976305]	likely benign	11	126001841	126001841	Human	1	name
597631640	CV3648717	single nucleotide variant	NM_001378964.1(CDON):c.1167G>A (p.Met389Ile)	Inborn genetic diseases [RCV004967755]	likely benign	11	126015272	126015272	Human	1	name
597655007	CV3648718	single nucleotide variant	NM_001378964.1(CDON):c.1924T>G (p.Leu642Val)	Inborn genetic diseases [RCV004976306]	uncertain significance	11	126004004	126004004	Human	1	name
597631642	CV3648720	single nucleotide variant	NM_001378964.1(CDON):c.1754C>G (p.Pro585Arg)	Inborn genetic diseases [RCV004967756]	uncertain significance	11	126005856	126005856	Human	1	name
597655020	CV3648721	single nucleotide variant	NM_001378964.1(CDON):c.1202G>A (p.Gly401Asp)	Inborn genetic diseases [RCV004976308]	uncertain significance	11	126010691	126010691	Human	1	name
597716814	CV3733295	single nucleotide variant	NM_001378964.1(CDON):c.1757C>G (p.Pro586Arg)	not provided [RCV005052485]	uncertain significance	11	126005853	126005853	Human		name
597952822	CV3756925	single nucleotide variant	NM_001378964.1(CDON):c.1511A>G (p.Asn504Ser)	Holoprosencephaly 11 [RCV005079786]	uncertain significance	11	126010382	126010382	Human	1	name
597894934	CV3781819	single nucleotide variant	NM_001378964.1(CDON):c.2496T>G (p.Ile832Met)	Holoprosencephaly 11 [RCV005126247]	uncertain significance	11	125994919	125994919	Human	1	name
597969712	CV3791684	single nucleotide variant	NM_001378964.1(CDON):c.2974C>T (p.Arg992Cys)	Holoprosencephaly 11 [RCV005141501]	uncertain significance	11	125983893	125983893	Human	1	name
597954832	CV3796087	single nucleotide variant	NM_001378964.1(CDON):c.1769C>G (p.Thr590Arg)	Holoprosencephaly 11 [RCV005136904]	uncertain significance	11	126005841	126005841	Human	1	name
597870120	CV3803575	single nucleotide variant	NM_001378964.1(CDON):c.1201G>A (p.Gly401Ser)	Holoprosencephaly 11 [RCV005148173]	uncertain significance	11	126010692	126010692	Human	1	name
597876932	CV3813294	single nucleotide variant	NM_001378964.1(CDON):c.1435C>G (p.Gln479Glu)	Holoprosencephaly 11 [RCV005149230]	uncertain significance	11	126010458	126010458	Human	1	name
597957726	CV3814442	single nucleotide variant	NM_001378964.1(CDON):c.2495T>A (p.Ile832Asn)	Holoprosencephaly 11 [RCV005162773]	uncertain significance	11	125994920	125994920	Human	1	name
597939479	CV3836458	single nucleotide variant	NM_001378964.1(CDON):c.2492A>T (p.His831Leu)	Holoprosencephaly 11 [RCV005187479]	uncertain significance	11	125994923	125994923	Human	1	name
597964649	CV3837753	single nucleotide variant	NM_001378964.1(CDON):c.2779C>T (p.Arg927Cys)	Holoprosencephaly 11 [RCV005193735]	uncertain significance	11	125984088	125984088	Human	1	name
598126849	CV3882307	single nucleotide variant	NM_001378964.1(CDON):c.2131C>A (p.Leu711Ile)	not provided [RCV005233858]	uncertain significance	11	126001746	126001746	Human		name
598124563	CV3885259	single nucleotide variant	NM_001378964.1(CDON):c.2961C>A (p.Cys987Ter)	not specified [RCV005239836]	uncertain significance	11	125983906	125983906	Human		name
598243546	CV3895027	single nucleotide variant	NM_001378964.1(CDON):c.2449G>A (p.Gly817Arg)	Holoprosencephaly 11 [RCV005365553]	uncertain significance	11	125994966	125994966	Human	1	name
598193433	CV3940372	single nucleotide variant	NM_001378964.1(CDON):c.1711G>A (p.Ala571Thr)	Inborn genetic diseases [RCV005312980]	likely benign	11	126005899	126005899	Human	1	name
598193439	CV3940374	single nucleotide variant	NM_001378964.1(CDON):c.2231G>A (p.Arg744Gln)	Inborn genetic diseases [RCV005312982]	uncertain significance	11	125997338	125997338	Human	1	name
598193444	CV3940375	single nucleotide variant	NM_001378964.1(CDON):c.2264A>G (p.Lys755Arg)	Inborn genetic diseases [RCV005312983]	uncertain significance	11	125997305	125997305	Human	1	name
598240704	CV3940376	single nucleotide variant	NM_001378964.1(CDON):c.2575A>G (p.Ile859Val)	Inborn genetic diseases [RCV005321425]	uncertain significance	11	125994359	125994359	Human	1	name
598193454	CV3940379	single nucleotide variant	NM_001378964.1(CDON):c.1748T>G (p.Leu583Arg)	Inborn genetic diseases [RCV005312985]	uncertain significance	11	126005862	126005862	Human	1	name
598193463	CV3940383	single nucleotide variant	NM_001378964.1(CDON):c.1600G>A (p.Ala534Thr)	Inborn genetic diseases [RCV005312987]	uncertain significance	11	126006010	126006010	Human	1	name
8602314	CV39704	single nucleotide variant	NM_001378964.1(CDON):c.2065C>G (p.Pro689Ala)	Holoprosencephaly 11 [RCV000023726]\|not provided [RCV000419072]	pathogenic\|likely pathogenic	11	126001812	126001812	Human	1	name
8602315	CV39705	single nucleotide variant	NM_001378964.1(CDON):c.2339T>A (p.Val780Glu)	Holoprosencephaly 11 [RCV000023727]	pathogenic	11	125997230	125997230	Human	1	name
8602316	CV39706	single nucleotide variant	NM_001378964.1(CDON):c.2368A>G (p.Thr790Ala)	Holoprosencephaly 11 [RCV000023728]	pathogenic	11	125995047	125995047	Human	1	name
8568556	CV39707	single nucleotide variant	NM_001378964.1(CDON):c.2818A>C (p.Ser940Arg)	Holoprosencephaly 11 [RCV000023729]\|not specified [RCV002247389]	pathogenic\|uncertain significance	11	125984049	125984049	Human	1	name
13211553	CV425911	single nucleotide variant	NM_001378964.1(CDON):c.1663C>T (p.Pro555Ser)	not provided [RCV000497604]	uncertain significance	11	126005947	126005947	Human		name
13479752	CV444747	single nucleotide variant	NM_001378964.1(CDON):c.2441A>G (p.Gln814Arg)	not provided [RCV000521038]	uncertain significance	11	125994974	125994974	Human		name
13532301	CV511904	single nucleotide variant	NM_001378964.1(CDON):c.1956A>C (p.Glu652Asp)	Inborn genetic diseases [RCV000624071]	uncertain significance	11	126003972	126003972	Human	1	name
13622291	CV525984	single nucleotide variant	NM_001378964.1(CDON):c.1310G>A (p.Arg437His)	Holoprosencephaly 11 [RCV000649537]\|not provided [RCV005411527]	benign\|uncertain significance	11	126010583	126010583	Human	1	name
13622292	CV526482	single nucleotide variant	NM_001378964.1(CDON):c.2923G>A (p.Val975Ile)	Holoprosencephaly 11 [RCV000649538]\|Inborn genetic diseases [RCV005306113]\|not provided [RCV002285389]	benign\|likely benign	11	125983944	125983944	Human	2	name
13838323	CV589625	deletion	NM_001378964.1(CDON):c.2996delA (p.Lys999fs)	Holoprosencephaly 11 [RCV002272340]\|not provided [RCV000734985]	uncertain significance	11	125981328	125981328	Human	1	name
15144558	CV692956	single nucleotide variant	NM_001378964.1(CDON):c.2567A>G (p.Asn856Ser)	Holoprosencephaly 11 [RCV000878239]	likely benign\|conflicting interpretations of pathogenicity	11	125994367	125994367	Human	1	name
15113273	CV692958	single nucleotide variant	NM_001378964.1(CDON):c.1906A>G (p.Ser636Gly)	Holoprosencephaly 11 [RCV001105774]	likely benign	11	126004022	126004022	Human	1	name
15111861	CV692959	single nucleotide variant	NM_001378964.1(CDON):c.1426G>A (p.Val476Ile)	Holoprosencephaly 11 [RCV002064704]\|Inborn genetic diseases [RCV004027808]	likely benign	11	126010467	126010467	Human	2	name
15188743	CV724289	single nucleotide variant	NM_001378964.1(CDON):c.2432G>A (p.Arg811His)	CDON-related disorder [RCV003968071]\|Holoprosencephaly 11 [RCV002065530]	likely benign	11	125994983	125994983	Human	1	name , trait , alternate_id
15146752	CV783906	single nucleotide variant	NM_001378964.1(CDON):c.1364C>T (p.Ser455Leu)	Holoprosencephaly 11 [RCV002549613]\|Inborn genetic diseases [RCV004973225]	likely benign	11	126010529	126010529	Human	2	name
28900693	CV801875	single nucleotide variant	NM_001378964.1(CDON):c.1057C>T (p.His353Tyr)	Holoprosencephaly 11 [RCV001103942]\|Microcephaly [RCV001252855]	likely benign\|uncertain significance	11	126015382	126015382	Human	3	name
26914225	CV838106	single nucleotide variant	NM_001378964.1(CDON):c.2027A>G (p.Glu676Gly)	Holoprosencephaly 11 [RCV001054830]	uncertain significance	11	126001850	126001850	Human	1	name
26887889	CV838107	single nucleotide variant	NM_001378964.1(CDON):c.1387T>C (p.Ser463Pro)	Holoprosencephaly 11 [RCV001045051]\|Inborn genetic diseases [RCV002553118]	likely benign\|uncertain significance	11	126010506	126010506	Human	2	name
26913006	CV838108	single nucleotide variant	NM_001378964.1(CDON):c.1102A>G (p.Ser368Gly)	Holoprosencephaly 11 [RCV001039761]\|Inborn genetic diseases [RCV003259042]	uncertain significance	11	126015337	126015337	Human	2	name
28907859	CV867523	single nucleotide variant	NM_001378964.1(CDON):c.2758A>G (p.Ile920Val)	Holoprosencephaly 11 [RCV001107455]	uncertain significance	11	125989652	125989652	Human	1	name
28907861	CV867524	single nucleotide variant	NM_001378964.1(CDON):c.2543C>T (p.Thr848Met)	Holoprosencephaly 11 [RCV001107456]	uncertain significance	11	125994872	125994872	Human	1	name
28900426	CV867525	single nucleotide variant	NM_001378964.1(CDON):c.2442A>C (p.Gln814His)	Holoprosencephaly 11 [RCV001103829]	uncertain significance	11	125994973	125994973	Human	1	name
28900433	CV867527	single nucleotide variant	NM_001378964.1(CDON):c.2071G>A (p.Val691Met)	Holoprosencephaly 11 [RCV001103831]	uncertain significance	11	126001806	126001806	Human	1	name
28908015	CV867528	single nucleotide variant	NM_001378964.1(CDON):c.1501G>A (p.Glu501Lys)	Holoprosencephaly 11 [RCV001107562]	likely benign	11	126010392	126010392	Human	1	name
34891420	CV904551	single nucleotide variant	NM_001378964.1(CDON):c.2761T>C (p.Cys921Arg)	Holoprosencephaly 11 [RCV003640960]\|not provided [RCV001172054]	uncertain significance	11	125989649	125989649	Human	1	name
38462792	CV919337	single nucleotide variant	NM_001378964.1(CDON):c.1819C>T (p.Pro607Ser)	Holoprosencephaly 11 [RCV001198688]	uncertain significance	11	126005791	126005791	Human	1	name
38459852	CV956425	single nucleotide variant	NM_001378964.1(CDON):c.1978G>A (p.Ala660Thr)	Holoprosencephaly 11 [RCV001246635]\|Inborn genetic diseases [RCV005306366]	likely benign\|uncertain significance	11	126003950	126003950	Human	2	name
39458194	CV966657	single nucleotide variant	NM_001378964.1(CDON):c.2764G>A (p.Glu922Lys)	Pituitary stalk interruption syndrome [RCV001257286]	pathogenic	11	125989646	125989646	Human	1	name
126756809	CV994382	single nucleotide variant	NM_001378964.1(CDON):c.2149C>T (p.His717Tyr)	Holoprosencephaly 11 [RCV001308226]	uncertain significance	11	126001728	126001728	Human	1	name
126913842	CV1047102	single nucleotide variant	NM_001378964.1(CDON):c.3499G>C (p.Asp1167His)	Holoprosencephaly 11 [RCV001370258]	uncertain significance	11	125961856	125961856	Human	1	name
126908019	CV1047103	single nucleotide variant	NM_001378964.1(CDON):c.3059C>A (p.Thr1020Asn)	Holoprosencephaly 11 [RCV001367496]	uncertain significance	11	125981266	125981266	Human	1	name
150545441	CV1293808	single nucleotide variant	NM_001378964.1(CDON):c.3004C>G (p.Pro1002Ala)	not provided [RCV001762989]	uncertain significance	11	125981321	125981321	Human		name
150531039	CV1299250	single nucleotide variant	NM_001378964.1(CDON):c.3554C>A (p.Thr1185Asn)	not provided [RCV001756943]	uncertain significance	11	125961801	125961801	Human		name
151800342	CV1365770	single nucleotide variant	NM_001378964.1(CDON):c.3776A>T (p.Gln1259Leu)	Holoprosencephaly 11 [RCV001917659]	uncertain significance	11	125960961	125960961	Human	1	name
151863953	CV1374532	single nucleotide variant	NM_001378964.1(CDON):c.3515C>A (p.Pro1172Gln)	Holoprosencephaly 11 [RCV001884304]	uncertain significance	11	125961840	125961840	Human	1	name
151851403	CV1391848	single nucleotide variant	NM_001378964.1(CDON):c.3784C>T (p.Arg1262Trp)	Holoprosencephaly 11 [RCV002033225]	uncertain significance	11	125960953	125960953	Human	1	name
151773601	CV1427824	single nucleotide variant	NM_001378964.1(CDON):c.3100G>A (p.Gly1034Arg)	Holoprosencephaly 11 [RCV001915215]\|Inborn genetic diseases [RCV003247119]	likely benign\|uncertain significance	11	125981225	125981225	Human	2	name
153000294	CV1682959	single nucleotide variant	NM_001378964.1(CDON):c.3343C>T (p.Arg1115Ter)	See cases [RCV002252969]	uncertain significance	11	125978317	125978317	Human		name
153301977	CV1689391	single nucleotide variant	NM_001378964.1(CDON):c.3125T>G (p.Leu1042Arg)	not provided [RCV002267341]	uncertain significance	11	125981200	125981200	Human		name
155266441	CV1698946	single nucleotide variant	NM_001378964.1(CDON):c.3334C>T (p.Arg1112Ter)	Holoprosencephaly 11 [RCV002282799]	uncertain significance	11	125978326	125978326	Human	1	name
155642498	CV1706278	single nucleotide variant	NM_001378964.1(CDON):c.3472C>T (p.Pro1158Ser)	not provided [RCV002287142]	uncertain significance	11	125961883	125961883	Human		name
156058471	CV1879901	single nucleotide variant	NM_001378964.1(CDON):c.3560G>A (p.Arg1187His)	CDON-related disorder [RCV003418730]\|Holoprosencephaly 11 [RCV003053255]\|Inborn genetic diseases [RCV003367969]	likely benign\|uncertain significance	11	125961795	125961795	Human	2	name , trait , alternate_id
156240877	CV1882443	single nucleotide variant	NM_001378964.1(CDON):c.3258T>A (p.His1086Gln)	Holoprosencephaly 11 [RCV003085738]\|Inborn genetic diseases [RCV003085737]	likely benign\|uncertain significance	11	125981067	125981067	Human	2	name
156102419	CV1916973	single nucleotide variant	NM_001378964.1(CDON):c.3335G>A (p.Arg1112Gln)	Holoprosencephaly 11 [RCV002592324]	uncertain significance	11	125978325	125978325	Human	1	name
156441613	CV1940935	single nucleotide variant	NM_001378964.1(CDON):c.3698C>G (p.Pro1233Arg)	Holoprosencephaly 11 [RCV003111941]	uncertain significance	11	125961039	125961039	Human	1	name
155934527	CV2063703	single nucleotide variant	NM_001378964.1(CDON):c.3367A>G (p.Lys1123Glu)	Holoprosencephaly 11 [RCV002838978]\|Inborn genetic diseases [RCV004966132]	uncertain significance	11	125961988	125961988	Human	2	name
156034597	CV2097656	single nucleotide variant	NM_001378964.1(CDON):c.3244G>A (p.Val1082Met)	Holoprosencephaly 11 [RCV002885551]\|Inborn genetic diseases [RCV004966138]	uncertain significance	11	125981081	125981081	Human	2	name
156343908	CV2099891	single nucleotide variant	NM_001378964.1(CDON):c.3689T>A (p.Ile1230Asn)	Holoprosencephaly 11 [RCV002900638]\|Inborn genetic diseases [RCV004066172]	uncertain significance	11	125961048	125961048	Human	2	name
156263649	CV2100797	single nucleotide variant	NM_001378964.1(CDON):c.3349A>G (p.Asn1117Asp)	Holoprosencephaly 11 [RCV002877359]	uncertain significance	11	125978311	125978311	Human	1	name
156220633	CV2107293	single nucleotide variant	NM_001378964.1(CDON):c.3614C>T (p.Pro1205Leu)	Holoprosencephaly 11 [RCV002918548]\|Inborn genetic diseases [RCV004066229]	uncertain significance	11	125961741	125961741	Human	2	name
155983787	CV2163287	single nucleotide variant	NM_001378964.1(CDON):c.3761C>T (p.Pro1254Leu)	Holoprosencephaly 11 [RCV003034003]	uncertain significance	11	125960976	125960976	Human	1	name
155922925	CV2217515	single nucleotide variant	NM_001378964.1(CDON):c.3344G>T (p.Arg1115Leu)	Inborn genetic diseases [RCV002683111]	uncertain significance	11	125978316	125978316	Human	1	name
155980684	CV2272752	single nucleotide variant	NM_001378964.1(CDON):c.3332G>A (p.Cys1111Tyr)	Inborn genetic diseases [RCV002818549]	likely benign	11	125978328	125978328	Human	1	name
156264322	CV2312074	single nucleotide variant	NM_001378964.1(CDON):c.3113C>A (p.Thr1038Asn)	Inborn genetic diseases [RCV002920702]	uncertain significance	11	125981212	125981212	Human	1	name
329349956	CV2430711	single nucleotide variant	NM_001378964.1(CDON):c.3515C>T (p.Pro1172Leu)	Inborn genetic diseases [RCV003178174]\|not provided [RCV003222486]	uncertain significance	11	125961840	125961840	Human	1	name
329378157	CV2459073	single nucleotide variant	NM_001378964.1(CDON):c.3296C>T (p.Ala1099Val)	Inborn genetic diseases [RCV003212059]	uncertain significance	11	125978364	125978364	Human	1	name
11552357	CV254031	single nucleotide variant	NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn)	Holoprosencephaly 1 [RCV000988764]\|Holoprosencephaly 11 [RCV000287810]\|not provided [RCV001618453]\|not specified [RCV000254270]	benign	11	125961075	125961075	Human	3	name
11548588	CV254032	single nucleotide variant	NM_001378964.1(CDON):c.3559C>T (p.Arg1187Cys)	Holoprosencephaly 11 [RCV000873249]\|not provided [RCV004703551]\|not specified [RCV000249282]	benign\|likely benign	11	125961796	125961796	Human	1	name
11552436	CV254034	single nucleotide variant	NM_001378964.1(CDON):c.3526G>A (p.Val1176Ile)	Holoprosencephaly 11 [RCV000525825]\|not provided [RCV001597019]\|not specified [RCV000254375]	benign\|likely benign	11	125961829	125961829	Human	1	name
401740521	CV2679744	single nucleotide variant	NM_001378964.1(CDON):c.3667A>C (p.Ile1223Leu)	Inborn genetic diseases [RCV003251247]	uncertain significance	11	125961070	125961070	Human	1	name
401725718	CV2687209	single nucleotide variant	NM_001378964.1(CDON):c.3437G>A (p.Gly1146Asp)	Inborn genetic diseases [RCV003245948]	likely benign	11	125961918	125961918	Human	1	name
401758051	CV2704145	single nucleotide variant	NM_001378964.1(CDON):c.3463G>T (p.Val1155Leu)	Inborn genetic diseases [RCV003256260]	uncertain significance	11	125961892	125961892	Human	1	name
401891321	CV2779353	single nucleotide variant	NM_001378964.1(CDON):c.3502T>A (p.Cys1168Ser)	Inborn genetic diseases [RCV003369408]	uncertain significance	11	125961853	125961853	Human	1	name
401907128	CV2800106	single nucleotide variant	NM_001378964.1(CDON):c.3505G>A (p.Gly1169Ser)	CDON-related disorder [RCV003397242]	uncertain significance	11	125961850	125961850	Human		name , trait , alternate_id
401906058	CV2802285	single nucleotide variant	NM_001378964.1(CDON):c.3203G>A (p.Gly1068Glu)	CDON-related disorder [RCV003420994]	uncertain significance	11	125981122	125981122	Human		name , trait , alternate_id
401933967	CV2802486	single nucleotide variant	NM_001378964.1(CDON):c.3185A>C (p.Asn1062Thr)	CDON-related disorder [RCV003410850]	uncertain significance	11	125981140	125981140	Human		name , trait , alternate_id
401926152	CV2803427	single nucleotide variant	NM_001378964.1(CDON):c.3390C>G (p.Ser1130Arg)	CDON-related disorder [RCV003405863]	uncertain significance	11	125961965	125961965	Human		name , trait , alternate_id
401932661	CV2804335	single nucleotide variant	NM_001378964.1(CDON):c.3214G>A (p.Gly1072Arg)	CDON-related disorder [RCV003408748]	uncertain significance	11	125981111	125981111	Human		name , trait , alternate_id
404977249	CV2849796	single nucleotide variant	NM_001378964.1(CDON):c.3011G>C (p.Gly1004Ala)	Holoprosencephaly 11 [RCV003486036]	uncertain significance	11	125981314	125981314	Human	1	name
405026271	CV2875883	single nucleotide variant	NM_001378964.1(CDON):c.3243C>A (p.His1081Gln)	Holoprosencephaly 11 [RCV003529014]	uncertain significance	11	125981082	125981082	Human	1	name
405026963	CV2880016	single nucleotide variant	NM_001378964.1(CDON):c.3463G>A (p.Val1155Met)	Holoprosencephaly 11 [RCV003529067]	uncertain significance	11	125961892	125961892	Human	1	name
405034314	CV2908047	single nucleotide variant	NM_001378964.1(CDON):c.3323G>A (p.Cys1108Tyr)	Holoprosencephaly 11 [RCV003529700]	uncertain significance	11	125978337	125978337	Human	1	name
405188219	CV3017299	single nucleotide variant	NM_001378964.1(CDON):c.3551C>T (p.Pro1184Leu)	Holoprosencephaly 11 [RCV003640490]	uncertain significance	11	125961804	125961804	Human	1	name
405200077	CV3067884	single nucleotide variant	NM_001378964.1(CDON):c.3764C>T (p.Thr1255Ile)	Holoprosencephaly 11 [RCV003642054]	uncertain significance	11	125960973	125960973	Human	1	name
405103173	CV3119635	single nucleotide variant	NM_001378964.1(CDON):c.3263A>G (p.His1088Arg)	Holoprosencephaly 11 [RCV003811897]	uncertain significance	11	125981062	125981062	Human	1	name
11604933	CV313179	single nucleotide variant	NM_001378964.1(CDON):c.3190A>G (p.Ser1064Gly)	Holoprosencephaly 11 [RCV000865355]\|Inborn genetic diseases [RCV004609353]\|not provided [RCV003422249]	likely benign\|uncertain significance	11	125981135	125981135	Human	2	name
405240468	CV3176745	single nucleotide variant	NM_001378964.1(CDON):c.3164A>G (p.Asn1055Ser)	Holoprosencephaly 11 [RCV003867183]	uncertain significance	11	125981161	125981161	Human	1	name
11614155	CV325451	single nucleotide variant	NM_001378964.1(CDON):c.3061A>G (p.Thr1021Ala)	Holoprosencephaly 11 [RCV000274333]	uncertain significance	11	125981264	125981264	Human	1	name
11618126	CV326400	single nucleotide variant	NM_001378964.1(CDON):c.3040G>A (p.Gly1014Arg)	Holoprosencephaly 11 [RCV000310695]	uncertain significance	11	125981285	125981285	Human	1	name
405742996	CV3293100	single nucleotide variant	NM_001378964.1(CDON):c.3022C>A (p.Gln1008Lys)	Inborn genetic diseases [RCV004431021]\|not specified [RCV004701907]	uncertain significance	11	125981303	125981303	Human	1	name
407460606	CV3418668	single nucleotide variant	NM_001378964.1(CDON):c.3523A>G (p.Ser1175Gly)	Inborn genetic diseases [RCV004612369]	likely benign	11	125961832	125961832	Human	1	name
407460626	CV3418674	single nucleotide variant	NM_001378964.1(CDON):c.3485C>G (p.Thr1162Ser)	Inborn genetic diseases [RCV004612375]	uncertain significance	11	125961870	125961870	Human	1	name
408370787	CV3513867	single nucleotide variant	NM_001378964.1(CDON):c.3199G>T (p.Gly1067Ter)	CDON-related disorder [RCV004740113]	uncertain significance	11	125981126	125981126	Human		name , trait , alternate_id
597654988	CV3648713	single nucleotide variant	NM_001378964.1(CDON):c.3664A>G (p.Asn1222Asp)	Inborn genetic diseases [RCV004976303]	uncertain significance	11	125961073	125961073	Human	1	name
597655014	CV3648719	single nucleotide variant	NM_001378964.1(CDON):c.3236G>C (p.Arg1079Thr)	Inborn genetic diseases [RCV004976307]	uncertain significance	11	125981089	125981089	Human	1	name
597655029	CV3648722	single nucleotide variant	NM_001378964.1(CDON):c.3260C>T (p.Pro1087Leu)	Inborn genetic diseases [RCV004976309]	uncertain significance	11	125981065	125981065	Human	1	name
597888758	CV3784369	single nucleotide variant	NM_001378964.1(CDON):c.3443A>G (p.Glu1148Gly)	Holoprosencephaly 11 [RCV005125357]	uncertain significance	11	125961912	125961912	Human	1	name
597889539	CV3788111	single nucleotide variant	NM_001378964.1(CDON):c.3249T>G (p.Asp1083Glu)	Holoprosencephaly 11 [RCV005125469]\|Inborn genetic diseases [RCV005311182]	uncertain significance	11	125981076	125981076	Human	2	name
597974886	CV3798565	single nucleotide variant	NM_001378964.1(CDON):c.3395C>G (p.Pro1132Arg)	Holoprosencephaly 11 [RCV005144153]	uncertain significance	11	125961960	125961960	Human	1	name
597877063	CV3825725	single nucleotide variant	NM_001378964.1(CDON):c.3160C>A (p.Pro1054Thr)	Holoprosencephaly 11 [RCV005177599]	uncertain significance	11	125981165	125981165	Human	1	name
597924241	CV3840111	single nucleotide variant	NM_001378964.1(CDON):c.3757A>G (p.Ser1253Gly)	Holoprosencephaly 11 [RCV005184850]	uncertain significance	11	125960980	125960980	Human	1	name
597917418	CV3842081	single nucleotide variant	NM_001378964.1(CDON):c.3736C>T (p.Pro1246Ser)	Holoprosencephaly 11 [RCV005183756]	uncertain significance	11	125961001	125961001	Human	1	name
12858998	CV389148	single nucleotide variant	NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu)	Abnormal brain morphology [RCV000454331]\|not provided [RCV000513511]\|not specified [RCV002248665]	likely pathogenic\|uncertain significance\|no classifications from unflagged records	11	125961960	125961960	Human	1	name
598193429	CV3940371	single nucleotide variant	NM_001378964.1(CDON):c.3238A>G (p.Thr1080Ala)	Inborn genetic diseases [RCV005312979]	uncertain significance	11	125981087	125981087	Human	1	name
598193449	CV3940378	single nucleotide variant	NM_001378964.1(CDON):c.3211T>C (p.Ser1071Pro)	Inborn genetic diseases [RCV005312984]	uncertain significance	11	125981114	125981114	Human	1	name
598240712	CV3940381	single nucleotide variant	NM_001378964.1(CDON):c.3127A>T (p.Ser1043Cys)	Inborn genetic diseases [RCV005321427]	uncertain significance	11	125981198	125981198	Human	1	name
598240723	CV3940386	single nucleotide variant	NM_001378964.1(CDON):c.3010G>A (p.Gly1004Arg)	Inborn genetic diseases [RCV005321429]	uncertain significance	11	125981315	125981315	Human	1	name
617154205	CV4022465	single nucleotide variant	NM_001378964.1(CDON):c.3144C>G (p.His1048Gln)	not provided [RCV005429822]	uncertain significance	11	125981181	125981181	Human		name
15107574	CV692953	single nucleotide variant	NM_001378964.1(CDON):c.3706G>A (p.Glu1236Lys)	CDON-related disorder [RCV003920404]\|Holoprosencephaly 11 [RCV000871533]\|Inborn genetic diseases [RCV004027787]	likely benign	11	125961031	125961031	Human	2	name , trait , alternate_id
15108674	CV692955	single nucleotide variant	NM_001378964.1(CDON):c.3191G>A (p.Ser1064Asn)	CDON-related disorder [RCV003920407]\|Holoprosencephaly 11 [RCV000871737]	benign\|likely benign	11	125981134	125981134	Human	1	name , trait , alternate_id
28900247	CV867514	single nucleotide variant	NM_001378964.1(CDON):c.3754G>C (p.Asp1252His)	Holoprosencephaly 11 [RCV001103735]\|Inborn genetic diseases [RCV004978012]	likely benign\|conflicting interpretations of pathogenicity	11	125960983	125960983	Human	2	name
28900249	CV867515	single nucleotide variant	NM_001378964.1(CDON):c.3710G>T (p.Gly1237Val)	Holoprosencephaly 11 [RCV001103736]	uncertain significance	11	125961027	125961027	Human	1	name
28900252	CV867516	single nucleotide variant	NM_001378964.1(CDON):c.3602G>A (p.Gly1201Asp)	Holoprosencephaly 11 [RCV001103737]\|Inborn genetic diseases [RCV002558040]\|not provided [RCV004812381]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	125961753	125961753	Human	2	name
28904660	CV867517	single nucleotide variant	NM_001378964.1(CDON):c.3574G>A (p.Asp1192Asn)	Holoprosencephaly 11 [RCV001105683]	likely benign\|conflicting interpretations of pathogenicity	11	125961781	125961781	Human	1	name
28906708	CV867518	single nucleotide variant	NM_001378964.1(CDON):c.3137A>G (p.Tyr1046Cys)	Holoprosencephaly 11 [RCV001106809]	uncertain significance	11	125981188	125981188	Human	1	name
28906709	CV867519	single nucleotide variant	NM_001378964.1(CDON):c.3130A>G (p.Ser1044Gly)	Holoprosencephaly 11 [RCV001106810]	uncertain significance	11	125981195	125981195	Human	1	name
38462121	CV919335	single nucleotide variant	NM_001378964.1(CDON):c.3389G>A (p.Ser1130Asn)	Holoprosencephaly 11 [RCV001198198]	uncertain significance	11	125961966	125961966	Human	1	name
126738504	CV1017403	microsatellite	NM_001378964.1(CDON):c.1544_1545del (p.Leu515fs)	Holoprosencephaly 11 [RCV003641990]	pathogenic\|uncertain significance	11	126010348	126010349	Human		name
150556465	CV1303150	deletion	NM_001378964.1(CDON):c.2336_2337del (p.Ser779fs)	not provided [RCV001774343]	uncertain significance	11	125997232	125997233	Human		name
151868381	CV1419166	deletion	NM_001378964.1(CDON):c.3622_3631del (p.Phe1208fs)	Holoprosencephaly 11 [RCV001960112]	uncertain significance	11	125961724	125961733	Human	1	name
329350282	CV2477315	deletion	NM_001378964.1(CDON):c.3010_3014del (p.Gly1004fs)	not provided [RCV003221640]	uncertain significance	11	125981311	125981315	Human		name
405198242	CV3000460	deletion	NM_001378964.1(CDON):c.2562_2564del (p.Asn856del)	Holoprosencephaly 11 [RCV003641809]	uncertain significance	11	125994370	125994372	Human	1	name
11644366	CV325374	indel	NM_001378964.1(CDON):c.*2377delinsCACACACACACACAC	Holoprosencephaly sequence [RCV000259485]	uncertain significance	11	125958565	125958565	Human		name
38492039	CV926152	insertion	NM_001378964.1(CDON):c.2400_2401insAA (p.Tyr801fs)	Holoprosencephaly 11 [RCV001223266]	uncertain significance	11	125995014	125995015	Human	1	name
151754804	CV1391428	duplication	NM_001378964.1(CDON):c.23_25dup (p.Leu8_Cys9insLeu)	Holoprosencephaly 11 [RCV001969562]	uncertain significance	11	126023451	126023452	Human	1	name
11655097	CV319251	indel	NM_001378964.1(CDON):c.2345_2349delinsAACACACACAC	Holoprosencephaly sequence [RCV000322933]	uncertain significance	11	125958593	125958597	Human		name
11657980	CV326269	indel	NM_001378964.1(CDON):c.2377_2379delinsCACACACACAC	Holoprosencephaly sequence [RCV000345432]	uncertain significance	11	125958563	125958565	Human		name
11654423	CV326303	indel	NM_001378964.1(CDON):c.*2377delinsCACACACACACACACAC	Holoprosencephaly sequence [RCV000316997]	uncertain significance	11	125958565	125958565	Human		name
11645460	CV326321	indel	NM_001378964.1(CDON):c.2345_2349delinsAACACACACACAC	Holoprosencephaly sequence [RCV000265456]	uncertain significance	11	125958593	125958597	Human		name
151788639	CV1374045	deletion	NM_001378964.1(CDON):c.1494del (p.Lys497_Tyr498insTer)	Holoprosencephaly 11 [RCV001951822]\|not provided [RCV004591638]	uncertain significance	11	126010399	126010399	Human	1	name
11664252	CV313149	indel	NM_001378964.1(CDON):c.2377_2379delinsCACACACACACACAC	Holoprosencephaly sequence [RCV000403861]	uncertain significance	11	125958563	125958565	Human		name
155996096	CV1986899	deletion	NM_001378964.1(CDON):c.3318_3325del (p.Leu1106_Glu1107insTer)	Holoprosencephaly 11 [RCV002618238]\|not provided [RCV003151899]	uncertain significance	11	125978335	125978342	Human	1	name
405031902	CV2899131	insertion	NM_001378964.1(CDON):c.3197_3198insATTGAATGGGAGCCTAAA (p.Leu1065_Asn1066insLysLeuAsnGlySerLeu)	Holoprosencephaly 11 [RCV003529500]	uncertain significance	11	125981127	125981128	Human	1	name

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