Chd1 Variant Search Result - Rat Genome Database

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570 records found for search term Chd1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
596920775	CV3534252	single nucleotide variant	NM_001270.4(CHD1):c.*8T>C	not specified [RCV004783471]	uncertain significance	5	98856372	98856372	Human		name
408393425	CV3528466	single nucleotide variant	NM_001270.4(CHD1):c.54-7A>G	not provided [RCV004776234]	uncertain significance	5	98905105	98905105	Human		name
405289334	CV3205068	single nucleotide variant	NM_001270.4(CHD1):c.256-4A>G	CHD1-related disorder [RCV003961680]	likely benign	5	98903912	98903912	Human		name , trait , alternate_id
596920403	CV3534586	single nucleotide variant	NM_001270.4(CHD1):c.860-5T>C	not specified [RCV004782147]	uncertain significance	5	98899710	98899710	Human		name
153346473	CV1691751	single nucleotide variant	NM_001270.4(CHD1):c.3571+5C>T	Pilarowski-Bjornsson syndrome [RCV002273234]	uncertain significance	5	98873588	98873588	Human	1	name
243055295	CV2407314	single nucleotide variant	NM_001270.4(CHD1):c.2964+3A>G	Pilarowski-Bjornsson syndrome [RCV003144864]\|not provided [RCV003434704]	likely benign\|uncertain significance	5	98881276	98881276	Human	1	name
401936267	CV2803037	single nucleotide variant	NM_001270.4(CHD1):c.4577-7C>A	CHD1-related disorder [RCV003414270]	uncertain significance	5	98858397	98858397	Human		name , trait , alternate_id
401917796	CV2827909	single nucleotide variant	NM_001270.4(CHD1):c.3572-4C>A	not provided [RCV003429715]	uncertain significance	5	98872559	98872559	Human		name
401916597	CV2831194	single nucleotide variant	NM_001270.4(CHD1):c.4576+5G>A	not provided [RCV003443463]	uncertain significance	5	98858959	98858959	Human		name
407574128	CV3498477	microsatellite	NM_001270.4(CHD1):c.-11AAT[1]	not specified [RCV004702952]	uncertain significance	5	98926392	98926394	Human		name
408391322	CV3521293	single nucleotide variant	NM_001270.4(CHD1):c.3571+1G>A	not provided [RCV004763115]	uncertain significance	5	98873592	98873592	Human		name
598124526	CV3885237	single nucleotide variant	NM_001270.4(CHD1):c.4577-6T>C	not specified [RCV005239814]	uncertain significance	5	98858396	98858396	Human		name
598231045	CV3886408	single nucleotide variant	NM_001270.4(CHD1):c.3237+1G>A	Pilarowski-Bjornsson syndrome [RCV005255852]	uncertain significance	5	98879551	98879551	Human	1	name
598129168	CV3888461	single nucleotide variant	NM_001270.4(CHD1):c.1801-7T>C	not provided [RCV005244635]	uncertain significance	5	98893613	98893613	Human		name
616933885	CV4011857	single nucleotide variant	NM_001270.4(CHD1):c.1085+2T>G	not specified [RCV005408406]	uncertain significance	5	98899478	98899478	Human		name
617152955	CV4018512	single nucleotide variant	NM_001270.4(CHD1):c.3060+5A>T	not specified [RCV005418773]	uncertain significance	5	98881071	98881071	Human		name
126732046	CV1020133	single nucleotide variant	NM_001270.4(CHD1):c.4427+17T>G	Pilarowski-Bjornsson syndrome [RCV001333896]	uncertain significance	5	98863391	98863391	Human	1	name
150453446	CV1260515	single nucleotide variant	NM_001270.4(CHD1):c.1991+16A>G	not provided [RCV001681007]	benign	5	98893400	98893400	Human		name
401875464	CV2749946	single nucleotide variant	NM_001270.4(CHD1):c.2569-11A>G	Pilarowski-Bjornsson syndrome [RCV003333354]	likely pathogenic\|uncertain significance	5	98883248	98883248	Human	1	name
408384704	CV3526918	microsatellite	NM_001270.2(CHD1):c.4250_4251dup	not provided [RCV004772231]	uncertain significance	5	98863583	98863584	Human		name
329350997	CV2477827	deletion	NM_001270.4(CHD1):c.587+5_587+6del	not provided [RCV003223940]	uncertain significance	5	98901180	98901181	Human		name
597664117	CV3732496	deletion	NM_001270.4(CHD1):c.2805_2867+17del	not provided [RCV005003965]	uncertain significance	5	98881958	98882037	Human		name
156440030	CV2401714	deletion	NM_001270.4(CHD1):c.3978+3_3978+6del	not provided [RCV003110002]	uncertain significance	5	98870681	98870684	Human		name
401964282	CV2843602	single nucleotide variant	NM_001270.4(CHD1):c.204T>C (p.Thr68=)	not specified [RCV003479945]	likely benign	5	98904948	98904948	Human		name
152103037	CV1667370	single nucleotide variant	NM_001270.4(CHD1):c.396C>T (p.Ser132=)	CHD1-related disorder [RCV003951341]\|not provided [RCV002214357]	likely benign	5	98902941	98902941	Human	1	name , trait , alternate_id
156053282	CV2192541	single nucleotide variant	NM_001270.4(CHD1):c.31A>G (p.Arg11Gly)	not provided [RCV003036986]	likely benign\|uncertain significance	5	98926356	98926356	Human		name
329352942	CV2476953	single nucleotide variant	NM_001270.4(CHD1):c.732G>A (p.Glu244=)	not provided [RCV003223185]	likely benign	5	98900938	98900938	Human		name
401917799	CV2827918	single nucleotide variant	NM_001270.4(CHD1):c.456T>C (p.Ser152=)	not provided [RCV003429718]	likely benign	5	98901317	98901317	Human		name
401914968	CV2827919	single nucleotide variant	NM_001270.4(CHD1):c.336A>G (p.Gln112=)	not provided [RCV003428575]	likely benign	5	98903828	98903828	Human		name
401914970	CV2827920	single nucleotide variant	NM_001270.4(CHD1):c.318A>G (p.Gln106=)	not provided [RCV003428576]	likely benign	5	98903846	98903846	Human		name
405294970	CV3215016	single nucleotide variant	NM_001270.4(CHD1):c.828A>G (p.Arg276=)	CHD1-related disorder [RCV003936866]	likely benign	5	98900842	98900842	Human		name , trait , alternate_id
407495744	CV3496564	single nucleotide variant	NM_001270.4(CHD1):c.42T>G (p.Ser14Arg)	not provided [RCV004696765]	uncertain significance	5	98926345	98926345	Human		name
597797825	CV3656230	single nucleotide variant	NM_001270.4(CHD1):c.92G>C (p.Gly31Ala)	not specified [RCV004904496]	uncertain significance	5	98905060	98905060	Human		name
597797846	CV3656238	single nucleotide variant	NM_001270.4(CHD1):c.88T>A (p.Ser30Thr)	not specified [RCV004904503]	uncertain significance	5	98905064	98905064	Human		name
126737433	CV1016610	single nucleotide variant	NM_001270.4(CHD1):c.205T>C (p.Ser69Pro)	Pilarowski-Bjornsson syndrome [RCV001328746]	uncertain significance	5	98904947	98904947	Human	1	name
126732043	CV1020134	single nucleotide variant	NM_001270.4(CHD1):c.271C>T (p.Pro91Ser)	Pilarowski-Bjornsson syndrome [RCV001333895]	uncertain significance	5	98903893	98903893	Human	1	name
126741702	CV1020135	single nucleotide variant	NM_001270.4(CHD1):c.242T>C (p.Val81Ala)	Pilarowski-Bjornsson syndrome [RCV001336321]	uncertain significance	5	98904910	98904910	Human	1	name
150450882	CV1220790	insertion	NM_001270.4(CHD1):c.2497-31_2497-30insA	not provided [RCV001611884]	benign	5	98885679	98885680	Human		name
151353432	CV1326558	single nucleotide variant	NM_001270.4(CHD1):c.2862A>G (p.Pro954=)	not provided [RCV001816398]	likely benign	5	98881980	98881980	Human		name
151353433	CV1326559	single nucleotide variant	NM_001270.4(CHD1):c.178A>G (p.Ser60Gly)	not provided [RCV001816399]	uncertain significance	5	98904974	98904974	Human		name
155642025	CV1710022	single nucleotide variant	NM_001270.4(CHD1):c.208C>T (p.Arg70Ter)	not provided [RCV002293122]	uncertain significance	5	98904944	98904944	Human		name
155730639	CV1780854	single nucleotide variant	NM_001270.4(CHD1):c.179G>A (p.Ser60Asn)	not specified [RCV002308643]	uncertain significance	5	98904973	98904973	Human		name
155803561	CV1858123	single nucleotide variant	NM_001270.4(CHD1):c.101C>T (p.Ser34Leu)	not provided [RCV002462432]	uncertain significance	5	98905051	98905051	Human		name
156061780	CV2320245	single nucleotide variant	NM_001270.4(CHD1):c.263A>T (p.Lys88Ile)	not specified [RCV004169862]	uncertain significance	5	98903901	98903901	Human		name
243055742	CV2416057	duplication	NM_001270.4(CHD1):c.643dup (p.Ser215fs)	Pilarowski-Bjornsson syndrome [RCV003149117]	likely pathogenic	5	98901026	98901027	Human	1	name
401915001	CV2827913	single nucleotide variant	NM_001270.4(CHD1):c.2235C>T (p.Thr745=)	CHD1-related disorder [RCV003919202]\|not provided [RCV003428571]	benign\|likely benign	5	98889184	98889184	Human	1	name , trait , alternate_id
401917800	CV2827921	single nucleotide variant	NM_001270.4(CHD1):c.286G>A (p.Val96Ile)	CHD1-related disorder [RCV003939004]\|not provided [RCV003429719]	benign	5	98903878	98903878	Human	1	name , trait , alternate_id
401916097	CV2829388	single nucleotide variant	NM_001270.4(CHD1):c.278T>G (p.Ile93Ser)	not provided [RCV003443237]	uncertain significance	5	98903886	98903886	Human		name
401913047	CV2830166	single nucleotide variant	NM_001270.4(CHD1):c.160T>G (p.Ser54Ala)	not provided [RCV003441381]	uncertain significance	5	98904992	98904992	Human		name
405265410	CV3185634	single nucleotide variant	NM_001270.4(CHD1):c.2958G>A (p.Glu986=)	not provided [RCV003886198]	likely benign	5	98881285	98881285	Human		name
405280168	CV3200282	single nucleotide variant	NM_001270.4(CHD1):c.1779T>C (p.Tyr593=)	CHD1-related disorder [RCV003977185]	likely benign	5	98894618	98894618	Human		name , trait , alternate_id
405287497	CV3210670	single nucleotide variant	NM_001270.4(CHD1):c.1725A>G (p.Glu575=)	CHD1-related disorder [RCV003924434]	likely benign	5	98894672	98894672	Human		name , trait , alternate_id
405709171	CV3225600	deletion	NM_001270.4(CHD1):c.490del (p.Ser164fs)	Pilarowski-Bjornsson syndrome [RCV003990657]	likely pathogenic	5	98901283	98901283	Human	1	name
408380554	CV3523584	single nucleotide variant	NM_001270.4(CHD1):c.191C>G (p.Ser64Cys)	not provided [RCV004765982]	uncertain significance	5	98904961	98904961	Human		name
596920663	CV3534114	single nucleotide variant	NM_001270.4(CHD1):c.1197T>C (p.Asn399=)	not specified [RCV004783332]	likely benign	5	98898424	98898424	Human		name
597797834	CV3656233	single nucleotide variant	NM_001270.4(CHD1):c.253G>C (p.Glu85Gln)	Complex neurodevelopmental disorder [RCV005365359]\|not specified [RCV004904499]	likely benign\|uncertain significance	5	98904899	98904899	Human	1	name
598121860	CV3885766	single nucleotide variant	NM_001270.4(CHD1):c.1800G>A (p.Lys600=)	Hypotonia [RCV005241283]	uncertain significance	5	98894597	98894597	Human	2	name
598256626	CV3940799	single nucleotide variant	NM_001270.4(CHD1):c.240A>C (p.Lys80Asn)	not specified [RCV005324244]	uncertain significance	5	98904912	98904912	Human		name
617152180	CV4018317	single nucleotide variant	NM_001270.4(CHD1):c.1293A>G (p.Lys431=)	not specified [RCV005418577]	uncertain significance	5	98898328	98898328	Human		name
617153077	CV4021050	single nucleotide variant	NM_001270.4(CHD1):c.1284C>G (p.Leu428=)	not provided [RCV005428803]	likely benign	5	98898337	98898337	Human		name
15192561	CV721611	single nucleotide variant	NM_001270.4(CHD1):c.1371A>G (p.Leu457=)	Pilarowski-Bjornsson syndrome [RCV002487945]\|not provided [RCV000888697]	benign\|likely benign	5	98897315	98897315	Human	1	name
150495048	CV1204936	single nucleotide variant	NM_001270.4(CHD1):c.429G>C (p.Lys143Asn)	not provided [RCV001593428]	uncertain significance	5	98902908	98902908	Human		name
150508321	CV1244803	single nucleotide variant	NM_001270.4(CHD1):c.309G>C (p.Lys103Asn)	not provided [RCV001659052]	uncertain significance	5	98903855	98903855	Human		name
150540747	CV1298469	single nucleotide variant	NM_001270.4(CHD1):c.674A>G (p.Tyr225Cys)	not provided [RCV001760617]	uncertain significance	5	98900996	98900996	Human		name
150531271	CV1299361	single nucleotide variant	NM_001270.4(CHD1):c.560A>G (p.Lys187Arg)	not provided [RCV001757054]	uncertain significance	5	98901213	98901213	Human		name
155268115	CV1701589	single nucleotide variant	NM_001270.4(CHD1):c.461C>T (p.Ser154Leu)	Pilarowski-Bjornsson syndrome [RCV002283817]	uncertain significance	5	98901312	98901312	Human	1	name
155265984	CV1704859	single nucleotide variant	NM_001270.4(CHD1):c.472T>C (p.Ser158Pro)	not specified [RCV002285104]	uncertain significance	5	98901301	98901301	Human		name
155799247	CV1862422	single nucleotide variant	NM_001270.4(CHD1):c.679A>G (p.Asn227Asp)	Pilarowski-Bjornsson syndrome [RCV002471828]	likely benign\|uncertain significance	5	98900991	98900991	Human	1	name
156166094	CV1866890	single nucleotide variant	NM_001270.4(CHD1):c.698G>A (p.Arg233His)	Pilarowski-Bjornsson syndrome [RCV004784065]\|not provided [RCV002508442]	uncertain significance	5	98900972	98900972	Human	1	name
156025292	CV2242221	single nucleotide variant	NM_001270.4(CHD1):c.547G>A (p.Glu183Lys)	not specified [RCV004111253]	uncertain significance	5	98901226	98901226	Human		name
156047985	CV2271690	single nucleotide variant	NM_001270.4(CHD1):c.503A>G (p.Glu168Gly)	not specified [RCV004130539]	uncertain significance	5	98901270	98901270	Human		name
156025534	CV2273987	single nucleotide variant	NM_001270.4(CHD1):c.646T>A (p.Ser216Thr)	not specified [RCV004134379]	uncertain significance	5	98901024	98901024	Human		name
156233653	CV2273988	single nucleotide variant	NM_001270.4(CHD1):c.647C>G (p.Ser216Cys)	not specified [RCV004134380]	uncertain significance	5	98901023	98901023	Human		name
156275741	CV2318370	single nucleotide variant	NM_001270.4(CHD1):c.404C>T (p.Ser135Leu)	not specified [RCV004179530]	uncertain significance	5	98902933	98902933	Human		name
243055141	CV2407301	single nucleotide variant	NM_001270.4(CHD1):c.607A>C (p.Lys203Gln)	Pilarowski-Bjornsson syndrome [RCV003144851]	uncertain significance	5	98901063	98901063	Human	1	name
243055150	CV2407306	single nucleotide variant	NM_001270.4(CHD1):c.362G>T (p.Gly121Val)	Pilarowski-Bjornsson syndrome [RCV003144856]	uncertain significance	5	98903802	98903802	Human	1	name
243055153	CV2407308	single nucleotide variant	NM_001270.4(CHD1):c.966G>A (p.Trp322Ter)	Pilarowski-Bjornsson syndrome [RCV003144858]	uncertain significance	5	98899599	98899599	Human	1	name
243055155	CV2407309	single nucleotide variant	NM_001270.4(CHD1):c.788T>C (p.Val263Ala)	Pilarowski-Bjornsson syndrome [RCV003144859]\|not specified [RCV004897798]	uncertain significance	5	98900882	98900882	Human	1	name
243055160	CV2407312	single nucleotide variant	NM_001270.4(CHD1):c.458G>A (p.Gly153Glu)	Pilarowski-Bjornsson syndrome [RCV003144862]	uncertain significance	5	98901315	98901315	Human	1	name
329400610	CV2438561	single nucleotide variant	NM_001270.4(CHD1):c.361G>A (p.Gly121Arg)	not specified [RCV004261742]	uncertain significance	5	98903803	98903803	Human		name
401778150	CV2700643	single nucleotide variant	NM_001270.4(CHD1):c.482G>A (p.Gly161Asp)	not specified [RCV004313367]	uncertain significance	5	98901291	98901291	Human		name
401762170	CV2722671	single nucleotide variant	NM_001270.4(CHD1):c.401A>G (p.Asp134Gly)	not specified [RCV004325118]	uncertain significance	5	98902936	98902936	Human		name
401757402	CV2734996	single nucleotide variant	NM_001270.4(CHD1):c.473C>T (p.Ser158Phe)	not specified [RCV004333700]	uncertain significance	5	98901300	98901300	Human		name
401889475	CV2756617	single nucleotide variant	NM_001270.4(CHD1):c.657T>G (p.Asp219Glu)	not specified [RCV004345139]	likely benign	5	98901013	98901013	Human		name
401877493	CV2790189	single nucleotide variant	NM_001270.4(CHD1):c.533C>T (p.Thr178Ile)	not specified [RCV004364111]	uncertain significance	5	98901240	98901240	Human		name
401915256	CV2827902	single nucleotide variant	NM_001270.4(CHD1):c.4854T>C (p.Asn1618=)	CHD1-related disorder [RCV003929139]\|not provided [RCV003428566]	likely benign	5	98856659	98856659	Human	1	name , trait , alternate_id
401917793	CV2827905	single nucleotide variant	NM_001270.4(CHD1):c.4194A>G (p.Glu1398=)	not provided [RCV003429712]	likely benign	5	98868549	98868549	Human		name
401917794	CV2827906	single nucleotide variant	NM_001270.4(CHD1):c.3993G>A (p.Arg1331=)	not provided [RCV003429713]	likely benign	5	98869868	98869868	Human		name
401915039	CV2827907	single nucleotide variant	NM_001270.4(CHD1):c.3921C>T (p.Asp1307=)	CHD1-related disorder [RCV003954194]\|not provided [RCV003428568]	likely benign	5	98870744	98870744	Human	1	name , trait , alternate_id
401917795	CV2827908	single nucleotide variant	NM_001270.4(CHD1):c.3582C>T (p.Leu1194=)	not provided [RCV003429714]	likely benign	5	98872545	98872545	Human		name
401915033	CV2827910	single nucleotide variant	NM_001270.4(CHD1):c.3507A>G (p.Gly1169=)	CHD1-related disorder [RCV003966411]\|not provided [RCV003428569]	likely benign	5	98873657	98873657	Human	1	name , trait , alternate_id
401914962	CV2827914	single nucleotide variant	NM_001270.4(CHD1):c.895G>A (p.Ala299Thr)	not provided [RCV003428572]	likely benign	5	98899670	98899670	Human		name
401914964	CV2827915	single nucleotide variant	NM_001270.4(CHD1):c.673T>C (p.Tyr225His)	not provided [RCV003428573]\|not specified [RCV004364604]	likely benign\|uncertain significance	5	98900997	98900997	Human		name
401917798	CV2827916	single nucleotide variant	NM_001270.4(CHD1):c.592A>G (p.Lys198Glu)	not provided [RCV003429717]	uncertain significance	5	98901078	98901078	Human		name
401914966	CV2827917	single nucleotide variant	NM_001270.4(CHD1):c.572G>C (p.Arg191Thr)	not provided [RCV003428574]	benign	5	98901201	98901201	Human		name
401916997	CV2829607	single nucleotide variant	NM_001270.4(CHD1):c.391G>C (p.Asp131His)	not provided [RCV003443651]	uncertain significance	5	98902946	98902946	Human		name
401944745	CV2840536	single nucleotide variant	NM_001270.4(CHD1):c.4182G>A (p.Thr1394=)	not provided [RCV003457438]	likely benign	5	98868561	98868561	Human		name
401944744	CV2840538	single nucleotide variant	NM_001270.4(CHD1):c.3930C>A (p.Ile1310=)	not provided [RCV003457439]	likely benign	5	98870735	98870735	Human		name
405867215	CV2842764	single nucleotide variant	NM_001270.4(CHD1):c.4221A>G (p.Glu1407=)	EBV-positive nodal T- and NK-cell lymphoma [RCV004558121]	likely benign	5	98868522	98868522	Human		name
405289251	CV3218178	single nucleotide variant	NM_001270.4(CHD1):c.398A>G (p.Asp133Gly)	CHD1-related disorder [RCV003983580]\|not specified [RCV005323636]	likely benign\|uncertain significance	5	98902939	98902939	Human	1	name , trait , alternate_id
405293117	CV3221282	single nucleotide variant	NM_001270.4(CHD1):c.4008T>G (p.Ala1336=)	CHD1-related disorder [RCV003966805]	likely benign	5	98869853	98869853	Human		name , trait , alternate_id
405282092	CV3224759	single nucleotide variant	NM_001270.4(CHD1):c.656A>T (p.Asp219Val)	Pilarowski-Bjornsson syndrome [RCV003989097]	uncertain significance	5	98901014	98901014	Human	1	name
405691097	CV3227486	single nucleotide variant	NM_001270.4(CHD1):c.527A>G (p.Asp176Gly)	Pilarowski-Bjornsson syndrome [RCV003991831]	uncertain significance	5	98901246	98901246	Human	1	name
407428672	CV3410342	single nucleotide variant	NM_001270.4(CHD1):c.629A>G (p.Lys210Arg)	not specified [RCV004587949]	likely benign	5	98901041	98901041	Human		name
407427713	CV3412012	single nucleotide variant	NM_001270.4(CHD1):c.727A>G (p.Lys243Glu)	not provided [RCV004592183]	uncertain significance	5	98900943	98900943	Human		name
407429118	CV3413505	duplication	NM_001270.4(CHD1):c.2112dup (p.Ser705fs)	Pilarowski-Bjornsson syndrome [RCV004594913]	uncertain significance	5	98892592	98892593	Human	1	name
408386758	CV3518528	indel	NM_001270.4(CHD1):c.1710+3_1710+4delinsC	not provided [RCV004760846]	uncertain significance	5	98896222	98896223	Human		name
596922683	CV3530046	single nucleotide variant	NM_001270.4(CHD1):c.403T>G (p.Ser135Ala)	not provided [RCV004776645]	uncertain significance	5	98902934	98902934	Human		name
596920591	CV3534065	single nucleotide variant	NM_001270.4(CHD1):c.830T>G (p.Phe277Cys)	not specified [RCV004783283]	uncertain significance	5	98900840	98900840	Human		name
596928987	CV3540685	single nucleotide variant	NM_001270.4(CHD1):c.841C>T (p.Arg281Trp)	not provided [RCV004795013]	likely pathogenic	5	98900829	98900829	Human		name
596943333	CV3542887	single nucleotide variant	NM_001270.4(CHD1):c.753T>A (p.Asp251Glu)	not provided [RCV004798471]	uncertain significance	5	98900917	98900917	Human		name
596947368	CV3548921	single nucleotide variant	NM_001270.4(CHD1):c.3501A>G (p.Arg1167=)	not provided [RCV004811245]	likely benign	5	98873663	98873663	Human		name
597797828	CV3656231	single nucleotide variant	NM_001270.4(CHD1):c.344A>G (p.Gln115Arg)	not specified [RCV004904497]	uncertain significance	5	98903820	98903820	Human		name
597797849	CV3656239	single nucleotide variant	NM_001270.4(CHD1):c.493G>C (p.Glu165Gln)	not specified [RCV004904504]	uncertain significance	5	98901280	98901280	Human		name
597736971	CV3718639	single nucleotide variant	NM_001270.4(CHD1):c.682G>T (p.Asp228Tyr)	Pilarowski-Bjornsson syndrome [RCV005037722]	uncertain significance	5	98900988	98900988	Human	1	name
597848956	CV3762276	single nucleotide variant	NM_001270.4(CHD1):c.3661T>C (p.Leu1221=)	not specified [RCV005087696]	likely benign	5	98872466	98872466	Human		name
598123757	CV3884708	single nucleotide variant	NM_001270.4(CHD1):c.3516A>G (p.Val1172=)	not specified [RCV005238314]	likely benign	5	98873648	98873648	Human		name
598126059	CV3886048	single nucleotide variant	NM_001270.4(CHD1):c.723C>G (p.Ser241Arg)	not provided [RCV005241851]	uncertain significance	5	98900947	98900947	Human		name
598129160	CV3888453	single nucleotide variant	NM_001270.4(CHD1):c.874A>G (p.Thr292Ala)	not provided [RCV005244627]	uncertain significance	5	98899691	98899691	Human		name
598160087	CV3897217	single nucleotide variant	NM_001270.4(CHD1):c.803A>C (p.Glu268Ala)	not provided [RCV005368191]	uncertain significance	5	98900867	98900867	Human		name
598256634	CV3940800	single nucleotide variant	NM_001270.4(CHD1):c.790C>T (p.Pro264Ser)	not specified [RCV005324245]	uncertain significance	5	98900880	98900880	Human		name
598256678	CV3940807	single nucleotide variant	NM_001270.4(CHD1):c.729G>C (p.Lys243Asn)	not specified [RCV005324252]	uncertain significance	5	98900941	98900941	Human		name
598256682	CV3940808	single nucleotide variant	NM_001270.4(CHD1):c.374A>T (p.Asp125Val)	not specified [RCV005324253]	uncertain significance	5	98902963	98902963	Human		name
616938213	CV4013116	single nucleotide variant	NM_001270.4(CHD1):c.746A>G (p.Lys249Arg)	not provided [RCV005410583]	uncertain significance	5	98900924	98900924	Human		name
616939868	CV4014415	single nucleotide variant	NM_001270.4(CHD1):c.860C>T (p.Ala287Val)	not provided [RCV005413909]	uncertain significance	5	98899705	98899705	Human		name
617152535	CV4017937	single nucleotide variant	NM_001270.4(CHD1):c.340C>T (p.His114Tyr)	Pilarowski-Bjornsson syndrome [RCV005417727]	uncertain significance	5	98903824	98903824	Human	1	name
617153343	CV4018574	single nucleotide variant	NM_001270.4(CHD1):c.4500T>C (p.Ala1500=)	not specified [RCV005418836]	likely benign	5	98859996	98859996	Human		name
617149580	CV4018803	single nucleotide variant	NM_001270.4(CHD1):c.834G>A (p.Met278Ile)	not provided [RCV005422715]	uncertain significance	5	98900836	98900836	Human		name
12899726	CV406782	single nucleotide variant	NM_001270.4(CHD1):c.421A>G (p.Arg141Gly)	Pilarowski-Bjornsson syndrome [RCV000505805]\|not provided [RCV000480833]	pathogenic\|uncertain significance	5	98902916	98902916	Human	1	name
14697897	CV623288	single nucleotide variant	NM_001270.4(CHD1):c.470C>G (p.Pro157Arg)	Pilarowski-Bjornsson syndrome [RCV000786919]	uncertain significance	5	98901303	98901303	Human	1	name
15156885	CV710082	single nucleotide variant	NM_001270.4(CHD1):c.4855T>C (p.Leu1619=)	CHD1-related disorder [RCV003905970]\|not provided [RCV000969201]	benign\|likely benign	5	98856658	98856658	Human	1	name , trait , alternate_id
15100803	CV765399	single nucleotide variant	NM_001270.4(CHD1):c.4512G>A (p.Arg1504=)	not provided [RCV000936685]	likely benign	5	98859984	98859984	Human		name
40815260	CV970817	single nucleotide variant	NM_001270.4(CHD1):c.662A>T (p.Asp221Val)	Pilarowski-Bjornsson syndrome [RCV001262558]\|not specified [RCV003490160]	uncertain significance	5	98901008	98901008	Human	1	name
40889622	CV972649	single nucleotide variant	NM_001270.4(CHD1):c.530A>G (p.Glu177Gly)	Neurodevelopmental abnormality [RCV001264681]	likely benign	5	98901243	98901243	Human	2	name
150540894	CV1298585	single nucleotide variant	NM_001270.4(CHD1):c.2780A>T (p.Lys927Ile)	not provided [RCV001760733]	uncertain significance	5	98882062	98882062	Human		name
150553663	CV1303984	single nucleotide variant	NM_001270.4(CHD1):c.1970T>C (p.Leu657Pro)	not provided [RCV001769369]	uncertain significance	5	98893437	98893437	Human		name
150554618	CV1304334	single nucleotide variant	NM_001270.4(CHD1):c.2092G>A (p.Val698Ile)	not provided [RCV001771304]	uncertain significance	5	98892613	98892613	Human		name
152035165	CV1670101	single nucleotide variant	NM_001270.4(CHD1):c.2887G>T (p.Glu963Ter)	not provided [RCV002223635]	uncertain significance	5	98881356	98881356	Human		name
152981583	CV1676901	single nucleotide variant	NM_001270.4(CHD1):c.2983A>G (p.Ile995Val)	not specified [RCV002247968]	benign	5	98881153	98881153	Human		name
153305167	CV1687566	single nucleotide variant	NM_001270.4(CHD1):c.2321A>T (p.Tyr774Phe)	not provided [RCV002263387]	benign\|likely benign	5	98889098	98889098	Human		name
153346457	CV1691733	single nucleotide variant	NM_001270.4(CHD1):c.2353C>T (p.Arg785Cys)	Pilarowski-Bjornsson syndrome [RCV002273216]	uncertain significance	5	98888231	98888231	Human	1	name
155265267	CV1704722	single nucleotide variant	NM_001270.4(CHD1):c.1379G>C (p.Arg460Thr)	not provided [RCV002284938]	uncertain significance	5	98897307	98897307	Human		name
155642744	CV1706375	single nucleotide variant	NM_001270.4(CHD1):c.1992G>T (p.Lys664Asn)	Pilarowski-Bjornsson syndrome [RCV002287231]	likely benign	5	98892713	98892713	Human	1	name
155642559	CV1707480	single nucleotide variant	NM_001270.4(CHD1):c.2042A>G (p.Tyr681Cys)	Pilarowski-Bjornsson syndrome [RCV002288410]	uncertain significance	5	98892663	98892663	Human	1	name
155644516	CV1708684	single nucleotide variant	NM_001270.4(CHD1):c.1493A>G (p.Lys498Arg)	Pilarowski-Bjornsson syndrome [RCV002291231]	uncertain significance	5	98897193	98897193	Human	1	name
155644906	CV1708859	single nucleotide variant	NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)	Pilarowski-Bjornsson syndrome [RCV002291456]	likely pathogenic	5	98893429	98893429	Human	1	name
155795761	CV1861491	single nucleotide variant	NM_001270.4(CHD1):c.1547C>A (p.Thr516Lys)	not provided [RCV002469773]	uncertain significance	5	98896389	98896389	Human		name
155959583	CV1936457	single nucleotide variant	NM_001270.4(CHD1):c.2839G>A (p.Val947Ile)	not provided [RCV002512273]	uncertain significance	5	98882003	98882003	Human		name
155920682	CV2350549	single nucleotide variant	NM_001270.4(CHD1):c.1814G>A (p.Gly605Asp)	not specified [RCV004204905]	uncertain significance	5	98893593	98893593	Human		name
156434871	CV2403165	single nucleotide variant	NM_001270.4(CHD1):c.2455A>G (p.Ile819Val)	not provided [RCV003127121]	uncertain significance	5	98888129	98888129	Human		name
243063752	CV2405234	single nucleotide variant	NM_001270.4(CHD1):c.1807C>G (p.Leu603Val)	Pilarowski-Bjornsson syndrome [RCV003142367]	uncertain significance	5	98893600	98893600	Human	1	name
243055138	CV2407299	single nucleotide variant	NM_001270.4(CHD1):c.2606T>C (p.Leu869Pro)	Pilarowski-Bjornsson syndrome [RCV003144849]	uncertain significance	5	98883200	98883200	Human	1	name
243055139	CV2407300	single nucleotide variant	NM_001270.4(CHD1):c.1177C>T (p.Arg393Cys)	Pilarowski-Bjornsson syndrome [RCV003144850]	uncertain significance	5	98898673	98898673	Human	1	name
243055142	CV2407302	single nucleotide variant	NM_001270.4(CHD1):c.2434C>G (p.Gln812Glu)	Pilarowski-Bjornsson syndrome [RCV003144852]	uncertain significance	5	98888150	98888150	Human	1	name
243055148	CV2407305	single nucleotide variant	NM_001270.4(CHD1):c.2336C>T (p.Ala779Val)	Pilarowski-Bjornsson syndrome [RCV003144855]	uncertain significance	5	98889083	98889083	Human	1	name
243055151	CV2407307	single nucleotide variant	NM_001270.4(CHD1):c.1082G>T (p.Arg361Ile)	Pilarowski-Bjornsson syndrome [RCV003144857]	uncertain significance	5	98899483	98899483	Human	1	name
329398074	CV2464751	single nucleotide variant	NM_001270.4(CHD1):c.2452G>C (p.Asp818His)	not specified [RCV004284714]	uncertain significance	5	98888132	98888132	Human		name
329393314	CV2466836	single nucleotide variant	NM_001270.4(CHD1):c.2321A>G (p.Tyr774Cys)	not specified [RCV004280777]	uncertain significance	5	98889098	98889098	Human		name
329953984	CV2669326	single nucleotide variant	NM_001270.4(CHD1):c.1279G>C (p.Ala427Pro)	not provided [RCV003231833]	uncertain significance	5	98898342	98898342	Human		name
329954966	CV2670898	single nucleotide variant	NM_001270.4(CHD1):c.1501A>G (p.Ser501Gly)	not provided [RCV003236166]	uncertain significance	5	98896435	98896435	Human		name
401749852	CV2694774	single nucleotide variant	NM_001270.4(CHD1):c.2882A>G (p.Asn961Ser)	not specified [RCV004298858]	uncertain significance	5	98881361	98881361	Human		name
401720654	CV2737289	single nucleotide variant	NM_001270.4(CHD1):c.1697A>G (p.Asn566Ser)	not provided [RCV003314228]	uncertain significance	5	98896239	98896239	Human		name
401741889	CV2738873	single nucleotide variant	NM_001270.4(CHD1):c.2143A>G (p.Arg715Gly)	not provided [RCV003318267]	uncertain significance	5	98892562	98892562	Human		name
401830749	CV2748397	single nucleotide variant	NM_001270.4(CHD1):c.2870C>T (p.Ser957Phe)	not provided [RCV003330006]	uncertain significance	5	98881373	98881373	Human		name
401872143	CV2749639	single nucleotide variant	NM_001270.4(CHD1):c.1341A>T (p.Lys447Asn)	not provided [RCV003332767]	uncertain significance	5	98898280	98898280	Human		name
401860418	CV2752242	single nucleotide variant	NM_001270.4(CHD1):c.2979T>A (p.Asp993Glu)	Pilarowski-Bjornsson syndrome [RCV003336647]	uncertain significance	5	98881157	98881157	Human	1	name
401880831	CV2763155	single nucleotide variant	NM_001270.4(CHD1):c.1574A>G (p.His525Arg)	not specified [RCV004336198]	uncertain significance	5	98896362	98896362	Human		name
401912686	CV2800749	single nucleotide variant	NM_001270.4(CHD1):c.1426C>T (p.His476Tyr)	CHD1-related disorder [RCV003399933]	uncertain significance	5	98897260	98897260	Human		name , trait , alternate_id
401909065	CV2803810	single nucleotide variant	NM_001270.4(CHD1):c.2499A>C (p.Arg833Ser)	CHD1-related disorder [RCV003397762]	uncertain significance	5	98885647	98885647	Human		name , trait , alternate_id
401915031	CV2827912	single nucleotide variant	NM_001270.4(CHD1):c.2896T>G (p.Ser966Ala)	Pilarowski-Bjornsson syndrome [RCV004784155]\|not provided [RCV003428570]	likely benign\|uncertain significance	5	98881347	98881347	Human	1	name
404998008	CV2849805	single nucleotide variant	NM_001270.4(CHD1):c.1165C>A (p.Gln389Lys)	Pilarowski-Bjornsson syndrome [RCV003492972]	uncertain significance	5	98898685	98898685	Human	1	name
405270122	CV3187620	single nucleotide variant	NM_001270.4(CHD1):c.1391T>A (p.Val464Glu)	not provided [RCV003887704]	uncertain significance	5	98897295	98897295	Human		name
405267535	CV3198415	single nucleotide variant	NM_001270.4(CHD1):c.1388T>C (p.Phe463Ser)	CHD1-related disorder [RCV003911785]	uncertain significance	5	98897298	98897298	Human		name , trait , alternate_id
405287642	CV3217841	single nucleotide variant	NM_001270.4(CHD1):c.2302C>T (p.Pro768Ser)	CHD1-related disorder [RCV003981964]	uncertain significance	5	98889117	98889117	Human		name , trait , alternate_id
405281256	CV3223989	single nucleotide variant	NM_001270.4(CHD1):c.1733A>C (p.His578Pro)	not specified [RCV003988368]	uncertain significance	5	98894664	98894664	Human		name
405660723	CV3300648	single nucleotide variant	NM_001270.4(CHD1):c.1748G>A (p.Arg583Gln)	not specified [RCV004438951]	uncertain significance	5	98894649	98894649	Human		name
405660726	CV3300649	single nucleotide variant	NM_001270.4(CHD1):c.2851G>C (p.Gly951Arg)	not specified [RCV004438952]	uncertain significance	5	98881991	98881991	Human		name
405854666	CV3392564	single nucleotide variant	NM_001270.4(CHD1):c.1066G>T (p.Asp356Tyr)	Pilarowski-Bjornsson syndrome [RCV004527559]	uncertain significance	5	98899499	98899499	Human	1	name
407424821	CV3410962	single nucleotide variant	NM_001270.4(CHD1):c.2479C>T (p.Arg827Cys)	not provided [RCV004588652]	uncertain significance	5	98888105	98888105	Human		name
407450545	CV3425640	single nucleotide variant	NM_001270.4(CHD1):c.1322T>A (p.Phe441Tyr)	not specified [RCV004607711]	uncertain significance	5	98898299	98898299	Human		name
407573998	CV3498347	single nucleotide variant	NM_001270.4(CHD1):c.1292A>G (p.Lys431Arg)	not specified [RCV004702822]	uncertain significance	5	98898329	98898329	Human		name
408365530	CV3500005	single nucleotide variant	NM_001270.4(CHD1):c.1710G>T (p.Met570Ile)	not provided [RCV004722048]	uncertain significance	5	98896226	98896226	Human		name
408388855	CV3520932	single nucleotide variant	NM_001270.4(CHD1):c.1148A>G (p.Asp383Gly)	not provided [RCV004761765]	uncertain significance	5	98898702	98898702	Human		name
408390906	CV3521098	duplication	NM_001270.4(CHD1):c.3960dup (p.Glu1321fs)	not provided [RCV004762920]	uncertain significance	5	98870704	98870705	Human		name
408386519	CV3522561	single nucleotide variant	NM_001270.4(CHD1):c.2026G>T (p.Gly676Cys)	not provided [RCV004767921]	uncertain significance	5	98892679	98892679	Human		name
408381925	CV3526646	single nucleotide variant	NM_001270.4(CHD1):c.1732C>T (p.His578Tyr)	not provided [RCV004771959]	uncertain significance	5	98894665	98894665	Human		name
408385883	CV3528726	deletion	NM_001270.4(CHD1):c.4301del (p.Pro1434fs)	not provided [RCV004772559]	uncertain significance	5	98863534	98863534	Human		name
596921378	CV3535000	single nucleotide variant	NM_001270.4(CHD1):c.1692C>A (p.Asp564Glu)	not provided [RCV004784558]	uncertain significance	5	98896244	98896244	Human		name
596928995	CV3540693	single nucleotide variant	NM_001270.4(CHD1):c.1899T>A (p.Phe633Leu)	not provided [RCV004795021]	uncertain significance	5	98893508	98893508	Human		name
596929038	CV3540736	single nucleotide variant	NM_001270.4(CHD1):c.2501T>C (p.Leu834Ser)	not provided [RCV004795064]	uncertain significance	5	98885645	98885645	Human		name
596943900	CV3543062	single nucleotide variant	NM_001270.4(CHD1):c.1063A>T (p.Lys355Ter)	not provided [RCV004798647]	uncertain significance	5	98899502	98899502	Human		name
596938663	CV3549715	single nucleotide variant	NM_001270.4(CHD1):c.1505G>T (p.Cys502Phe)	not provided [RCV004812755]	uncertain significance	5	98896431	98896431	Human		name
596938800	CV3549824	single nucleotide variant	NM_001270.4(CHD1):c.2087G>A (p.Arg696His)	not provided [RCV004812865]	uncertain significance	5	98892618	98892618	Human		name
596939927	CV3550684	single nucleotide variant	NM_001270.4(CHD1):c.1895A>T (p.Asp632Val)	not provided [RCV004814584]	uncertain significance	5	98893512	98893512	Human		name
597797831	CV3656232	single nucleotide variant	NM_001270.4(CHD1):c.1730C>T (p.Thr577Met)	not specified [RCV004904498]	likely benign	5	98894667	98894667	Human		name
597797852	CV3656240	single nucleotide variant	NM_001270.4(CHD1):c.1334A>C (p.Gln445Pro)	not specified [RCV004904505]	uncertain significance	5	98898287	98898287	Human		name
597797855	CV3656241	single nucleotide variant	NM_001270.4(CHD1):c.1706A>G (p.Asn569Ser)	not specified [RCV004904506]	uncertain significance	5	98896230	98896230	Human		name
597668339	CV3732764	single nucleotide variant	NM_001270.4(CHD1):c.1825G>C (p.Ala609Pro)	not provided [RCV005004596]	uncertain significance	5	98893582	98893582	Human		name
597715553	CV3733198	single nucleotide variant	NM_001270.4(CHD1):c.2939C>T (p.Pro980Leu)	not provided [RCV005052387]	uncertain significance	5	98881304	98881304	Human		name
597720345	CV3733581	single nucleotide variant	NM_001270.4(CHD1):c.2011T>C (p.Phe671Leu)	not provided [RCV005052772]	uncertain significance	5	98892694	98892694	Human		name
597834052	CV3735166	single nucleotide variant	NM_001270.4(CHD1):c.2104G>A (p.Val702Met)	not provided [RCV005054899]	uncertain significance	5	98892601	98892601	Human		name
597925192	CV3863437	single nucleotide variant	NM_001270.4(CHD1):c.2425A>T (p.Ile809Phe)	not provided [RCV005205762]	uncertain significance	5	98888159	98888159	Human		name
598126744	CV3882200	deletion	NM_001270.4(CHD1):c.5095del (p.Ser1699fs)	not provided [RCV005233751]	uncertain significance	5	98856418	98856418	Human		name
598122895	CV3890045	deletion	NM_001270.4(CHD1):c.4055del (p.Lys1352fs)	not provided [RCV005250564]	uncertain significance	5	98869806	98869806	Human		name
598256640	CV3940801	single nucleotide variant	NM_001270.4(CHD1):c.1421G>C (p.Gly474Ala)	not specified [RCV005324246]	uncertain significance	5	98897265	98897265	Human		name
598256657	CV3940804	single nucleotide variant	NM_001270.4(CHD1):c.2480G>A (p.Arg827His)	not specified [RCV005324249]	uncertain significance	5	98888104	98888104	Human		name
616933708	CV4011670	single nucleotide variant	NM_001270.4(CHD1):c.2357G>C (p.Ser786Thr)	not specified [RCV005408219]	uncertain significance	5	98888227	98888227	Human		name
616939209	CV4015539	single nucleotide variant	NM_001270.4(CHD1):c.1366G>T (p.Val456Leu)	not provided [RCV005413051]	uncertain significance	5	98897320	98897320	Human		name
617152542	CV4017933	single nucleotide variant	NM_001270.4(CHD1):c.1671T>G (p.Asn557Lys)	Pilarowski-Bjornsson syndrome [RCV005417723]	uncertain significance	5	98896265	98896265	Human	1	name
617152540	CV4017934	single nucleotide variant	NM_001270.4(CHD1):c.1876C>G (p.Leu626Val)	Pilarowski-Bjornsson syndrome [RCV005417724]	uncertain significance	5	98893531	98893531	Human	1	name
617152539	CV4017935	single nucleotide variant	NM_001270.4(CHD1):c.2842C>G (p.Leu948Val)	Pilarowski-Bjornsson syndrome [RCV005417725]	uncertain significance	5	98882000	98882000	Human	1	name
617154182	CV4022427	single nucleotide variant	NM_001270.4(CHD1):c.2227G>T (p.Gly743Cys)	not provided [RCV005429784]	uncertain significance	5	98889192	98889192	Human		name
13435684	CV432450	single nucleotide variant	NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln)	Pilarowski-Bjornsson syndrome [RCV000505806]\|not provided [RCV000509117]	pathogenic\|not provided	5	98893554	98893554	Human	1	name
13435687	CV432452	single nucleotide variant	NM_001270.4(CHD1):c.1379G>A (p.Arg460Lys)	Pilarowski-Bjornsson syndrome [RCV000505811]	pathogenic	5	98897307	98897307	Human	1	name
15130652	CV710083	single nucleotide variant	NM_001270.4(CHD1):c.2006A>T (p.Glu669Val)	not provided [RCV000964470]	benign\|likely benign	5	98892699	98892699	Human		name
38462738	CV918985	single nucleotide variant	NM_001270.4(CHD1):c.2848A>G (p.Thr950Ala)	Pilarowski-Bjornsson syndrome [RCV001196608]	uncertain significance	5	98881994	98881994	Human	1	name
126737452	CV1016607	single nucleotide variant	NM_001270.4(CHD1):c.4792T>C (p.Tyr1598His)	Pilarowski-Bjornsson syndrome [RCV001328749]\|not specified [RCV004897674]	uncertain significance	5	98856721	98856721	Human	1	name
126737446	CV1016608	single nucleotide variant	NM_001270.4(CHD1):c.4551G>T (p.Leu1517Phe)	Pilarowski-Bjornsson syndrome [RCV001328748]	uncertain significance	5	98858989	98858989	Human	1	name
126737438	CV1016609	single nucleotide variant	NM_001270.4(CHD1):c.3335G>T (p.Arg1112Leu)	Pilarowski-Bjornsson syndrome [RCV001328747]	uncertain significance	5	98876461	98876461	Human	1	name
150417420	CV1180068	single nucleotide variant	NM_001270.4(CHD1):c.4289A>G (p.Gln1430Arg)	not provided [RCV001550118]	uncertain significance	5	98863546	98863546	Human		name
150453389	CV1203791	single nucleotide variant	NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter)	Pilarowski-Bjornsson syndrome [RCV001591747]	uncertain significance	5	98856663	98856663	Human	1	name
150551120	CV1292513	single nucleotide variant	NM_001270.4(CHD1):c.3541A>G (p.Lys1181Glu)	not provided [RCV001754120]	uncertain significance	5	98873623	98873623	Human		name
150549651	CV1297168	single nucleotide variant	NM_001270.4(CHD1):c.3346C>T (p.Arg1116Trp)	not provided [RCV001765266]	uncertain significance	5	98876450	98876450	Human		name
150551772	CV1297564	single nucleotide variant	NM_001270.4(CHD1):c.3788T>C (p.Ile1263Thr)	not provided [RCV001767248]	uncertain significance	5	98872124	98872124	Human		name
150534180	CV1300454	single nucleotide variant	NM_001270.4(CHD1):c.3112A>G (p.Arg1038Gly)	not provided [RCV001758582]	uncertain significance	5	98879677	98879677	Human		name
150554854	CV1304600	single nucleotide variant	NM_001270.4(CHD1):c.3363G>T (p.Glu1121Asp)	not provided [RCV001771570]	uncertain significance	5	98876433	98876433	Human		name
151234661	CV1320399	single nucleotide variant	NM_001270.4(CHD1):c.3502C>G (p.Leu1168Val)	not provided [RCV001800023]	uncertain significance	5	98873662	98873662	Human		name
151349481	CV1325414	single nucleotide variant	NM_001270.4(CHD1):c.3834G>A (p.Met1278Ile)	not provided [RCV001814700]	uncertain significance	5	98872078	98872078	Human		name
151353431	CV1326557	single nucleotide variant	NM_001270.4(CHD1):c.3259G>A (p.Gly1087Arg)	not provided [RCV001816397]	uncertain significance	5	98876537	98876537	Human		name
151662358	CV1333057	single nucleotide variant	NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg)	Pilarowski-Bjornsson syndrome [RCV001837290]\|not provided [RCV004720952]	uncertain significance	5	98869863	98869863	Human	1	name
152978344	CV1671535	single nucleotide variant	NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr)	Pilarowski-Bjornsson syndrome [RCV002227640]	uncertain significance	5	98856537	98856537	Human	1	name
152999798	CV1683358	single nucleotide variant	NM_001270.4(CHD1):c.4957A>G (p.Lys1653Glu)	See cases [RCV002252542]	uncertain significance	5	98856556	98856556	Human		name
153346830	CV1694226	single nucleotide variant	NM_001270.4(CHD1):c.3737C>T (p.Ala1246Val)	Neurodevelopmental disorder [RCV002277642]	uncertain significance	5	98872175	98872175	Human	1	name
153348138	CV1695187	single nucleotide variant	NM_001270.4(CHD1):c.4298G>A (p.Arg1433Lys)	not provided [RCV002279118]	uncertain significance	5	98863537	98863537	Human		name
155265532	CV1695674	single nucleotide variant	NM_001270.4(CHD1):c.3798T>G (p.Tyr1266Ter)	not provided [RCV002280405]	uncertain significance	5	98872114	98872114	Human		name
155266642	CV1699210	single nucleotide variant	NM_001270.4(CHD1):c.4880C>T (p.Ser1627Phe)	not provided [RCV002283005]	uncertain significance	5	98856633	98856633	Human		name
155644917	CV1710463	single nucleotide variant	NM_001270.4(CHD1):c.4017T>G (p.Asn1339Lys)	not provided [RCV002293759]	uncertain significance	5	98869844	98869844	Human		name
155714669	CV1760369	single nucleotide variant	NM_001270.4(CHD1):c.4132A>G (p.Arg1378Gly)	not provided [RCV002300876]	uncertain significance	5	98868611	98868611	Human		name
155721526	CV1781317	single nucleotide variant	NM_001270.4(CHD1):c.3125A>T (p.Asn1042Ile)	not provided [RCV002306393]	uncertain significance	5	98879664	98879664	Human		name
155804099	CV1858647	single nucleotide variant	NM_001270.4(CHD1):c.4886C>G (p.Ser1629Cys)	Pilarowski-Bjornsson syndrome [RCV002463421]	uncertain significance	5	98856627	98856627	Human	1	name
155798873	CV1862210	single nucleotide variant	NM_001270.4(CHD1):c.3547A>G (p.Ser1183Gly)	Pilarowski-Bjornsson syndrome [RCV002471614]	uncertain significance	5	98873617	98873617	Human	1	name
156312859	CV2196426	single nucleotide variant	NM_001270.4(CHD1):c.4609G>A (p.Asp1537Asn)	not specified [RCV004073729]	uncertain significance	5	98858358	98858358	Human		name
156042188	CV2215747	single nucleotide variant	NM_001270.4(CHD1):c.4641T>A (p.Asp1547Glu)	not specified [RCV004095355]	uncertain significance	5	98858326	98858326	Human		name
156243919	CV2231554	single nucleotide variant	NM_001270.4(CHD1):c.5042A>G (p.Gln1681Arg)	not specified [RCV004096612]	uncertain significance	5	98856471	98856471	Human		name
156197599	CV2259281	single nucleotide variant	NM_001270.4(CHD1):c.4913G>A (p.Arg1638Gln)	not specified [RCV004122297]	uncertain significance	5	98856600	98856600	Human		name
156054392	CV2269578	single nucleotide variant	NM_001270.4(CHD1):c.5122C>T (p.Arg1708Trp)	not provided [RCV004697259]\|not specified [RCV004124678]	uncertain significance	5	98856391	98856391	Human		name
155915974	CV2281831	single nucleotide variant	NM_001270.4(CHD1):c.3544G>T (p.Asp1182Tyr)	not specified [RCV004136840]	uncertain significance	5	98873620	98873620	Human		name
156296983	CV2297631	single nucleotide variant	NM_001270.4(CHD1):c.5026A>G (p.Arg1676Gly)	not specified [RCV004155326]	uncertain significance	5	98856487	98856487	Human		name
156191855	CV2356908	single nucleotide variant	NM_001270.4(CHD1):c.3365A>G (p.Asn1122Ser)	not specified [RCV004204283]	uncertain significance	5	98876431	98876431	Human		name
156084584	CV2366076	single nucleotide variant	NM_001270.4(CHD1):c.4399A>G (p.Asn1467Asp)	not provided [RCV005242362]\|not specified [RCV004210114]	uncertain significance	5	98863436	98863436	Human		name
156348153	CV2375649	single nucleotide variant	NM_001270.4(CHD1):c.4579G>A (p.Val1527Met)	CHD1-related disorder [RCV003918999]\|not specified [RCV004226126]	likely benign\|uncertain significance	5	98858388	98858388	Human	1	name , trait , alternate_id
156196573	CV2400638	single nucleotide variant	NM_001270.4(CHD1):c.4679G>A (p.Arg1560Gln)	not provided [RCV003434689]\|not specified [RCV004242323]	likely benign\|uncertain significance	5	98858288	98858288	Human		name
156451223	CV2402612	single nucleotide variant	NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)	Pilarowski-Bjornsson syndrome [RCV003123418]	likely pathogenic	5	98879656	98879656	Human	1	name
156434963	CV2403217	single nucleotide variant	NM_001270.4(CHD1):c.4706G>A (p.Ser1569Asn)	not provided [RCV003127173]	uncertain significance	5	98858261	98858261	Human		name
243055144	CV2407303	single nucleotide variant	NM_001270.4(CHD1):c.3941G>T (p.Ser1314Ile)	Pilarowski-Bjornsson syndrome [RCV003144853]	uncertain significance	5	98870724	98870724	Human	1	name
243055157	CV2407310	single nucleotide variant	NM_001270.4(CHD1):c.4753C>T (p.His1585Tyr)	Pilarowski-Bjornsson syndrome [RCV003144860]	uncertain significance	5	98858214	98858214	Human	1	name
243055158	CV2407311	single nucleotide variant	NM_001270.4(CHD1):c.4552A>C (p.Asn1518His)	Pilarowski-Bjornsson syndrome [RCV003144861]	uncertain significance	5	98858988	98858988	Human	1	name
243055162	CV2407313	single nucleotide variant	NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)	Pilarowski-Bjornsson syndrome [RCV003144863]	uncertain significance	5	98858321	98858321	Human	1	name
243052246	CV2416118	single nucleotide variant	NM_001270.4(CHD1):c.3499C>T (p.Arg1167Ter)	not provided [RCV003149178]	uncertain significance	5	98873665	98873665	Human		name
329397327	CV2460154	single nucleotide variant	NM_001270.4(CHD1):c.4370A>G (p.His1457Arg)	not specified [RCV004273257]	uncertain significance	5	98863465	98863465	Human		name
329402911	CV2462008	single nucleotide variant	NM_001270.4(CHD1):c.5051C>T (p.Pro1684Leu)	not specified [RCV004272190]	uncertain significance	5	98856462	98856462	Human		name
329953151	CV2669863	single nucleotide variant	NM_001270.4(CHD1):c.4850C>T (p.Ser1617Leu)	not provided [RCV003234487]\|not specified [RCV004701028]	uncertain significance	5	98856663	98856663	Human		name
401736148	CV2689269	single nucleotide variant	NM_001270.4(CHD1):c.3917C>G (p.Ala1306Gly)	not specified [RCV004306108]	uncertain significance	5	98870748	98870748	Human		name
401747582	CV2691627	single nucleotide variant	NM_001270.4(CHD1):c.5105A>G (p.Glu1702Gly)	not specified [RCV004305444]	uncertain significance	5	98856408	98856408	Human		name
401781500	CV2726542	single nucleotide variant	NM_001270.4(CHD1):c.4931G>A (p.Arg1644Gln)	not specified [RCV004328723]	uncertain significance	5	98856582	98856582	Human		name
401828290	CV2744650	single nucleotide variant	NM_001270.4(CHD1):c.4343G>C (p.Arg1448Thr)	not provided [RCV003328049]	uncertain significance	5	98863492	98863492	Human		name
401830250	CV2747976	single nucleotide variant	NM_001270.4(CHD1):c.3907C>T (p.Gln1303Ter)	not provided [RCV003329583]	uncertain significance	5	98870758	98870758	Human		name
401854262	CV2749870	single nucleotide variant	NM_001270.4(CHD1):c.4712C>G (p.Ser1571Cys)	Pilarowski-Bjornsson syndrome [RCV003333263]	uncertain significance	5	98858255	98858255	Human	1	name
401882212	CV2774741	single nucleotide variant	NM_001270.4(CHD1):c.4465G>A (p.Asp1489Asn)	not specified [RCV004343841]	uncertain significance	5	98860031	98860031	Human		name
401919333	CV2794865	single nucleotide variant	NM_001270.4(CHD1):c.3575G>A (p.Gly1192Asp)	not specified [RCV003388540]	uncertain significance	5	98872552	98872552	Human		name
401922940	CV2796582	single nucleotide variant	NM_001270.4(CHD1):c.3247A>G (p.Asn1083Asp)	CHD1-related disorder [RCV003404202]	uncertain significance	5	98876549	98876549	Human		name , trait , alternate_id
401915264	CV2827899	single nucleotide variant	NM_001270.4(CHD1):c.5102C>T (p.Pro1701Leu)	not provided [RCV003428563]	uncertain significance	5	98856411	98856411	Human		name
401915261	CV2827900	single nucleotide variant	NM_001270.4(CHD1):c.4958A>C (p.Lys1653Thr)	not provided [RCV003428564]\|not specified [RCV005323431]	likely benign\|uncertain significance	5	98856555	98856555	Human		name
401915258	CV2827901	single nucleotide variant	NM_001270.4(CHD1):c.4949C>T (p.Thr1650Met)	CHD1-related disorder [RCV003954192]\|not provided [RCV003428565]	benign\|likely benign	5	98856564	98856564	Human	1	name , trait , alternate_id
401917792	CV2827903	single nucleotide variant	NM_001270.4(CHD1):c.4741A>G (p.Asn1581Asp)	not provided [RCV003429711]	uncertain significance	5	98858226	98858226	Human		name
401915140	CV2827904	single nucleotide variant	NM_001270.4(CHD1):c.4681C>T (p.His1561Tyr)	CHD1-related disorder [RCV003954193]\|Complex neurodevelopmental disorder [RCV005356436]\|not provided [RCV003428567]	benign\|likely benign	5	98858286	98858286	Human	2	name , trait , alternate_id
401917797	CV2827911	single nucleotide variant	NM_001270.4(CHD1):c.3227G>A (p.Cys1076Tyr)	not provided [RCV003429716]	uncertain significance	5	98879562	98879562	Human		name
401916992	CV2829605	single nucleotide variant	NM_001270.4(CHD1):c.4294G>C (p.Asp1432His)	not provided [RCV003443649]	uncertain significance	5	98863541	98863541	Human		name
401913335	CV2830330	single nucleotide variant	NM_001270.4(CHD1):c.3980G>C (p.Gly1327Ala)	not provided [RCV003441545]	uncertain significance	5	98869881	98869881	Human		name
401914886	CV2830876	single nucleotide variant	NM_001270.4(CHD1):c.4402C>A (p.Pro1468Thr)	not provided [RCV003442615]	uncertain significance	5	98863433	98863433	Human		name
401947092	CV2832295	single nucleotide variant	NM_001270.4(CHD1):c.4760A>G (p.Asp1587Gly)	Pilarowski-Bjornsson syndrome [RCV003447820]	uncertain significance	5	98858207	98858207	Human	1	name
401944173	CV2840539	single nucleotide variant	NM_001270.4(CHD1):c.3355C>G (p.Pro1119Ala)	not provided [RCV003457129]	uncertain significance	5	98876441	98876441	Human		name
405867216	CV2842765	single nucleotide variant	NM_001270.4(CHD1):c.4684C>T (p.Gln1562Ter)	EBV-positive nodal T- and NK-cell lymphoma [RCV004558122]	likely benign	5	98858283	98858283	Human		name
401963729	CV2843280	single nucleotide variant	NM_001270.4(CHD1):c.4574C>T (p.Pro1525Leu)	not specified [RCV003479622]	uncertain significance	5	98858966	98858966	Human		name
405262549	CV3184974	single nucleotide variant	NM_001270.4(CHD1):c.3380G>A (p.Ser1127Asn)	not provided [RCV003885538]	likely benign	5	98876416	98876416	Human		name
405265352	CV3198841	single nucleotide variant	NM_001270.4(CHD1):c.4562T>C (p.Val1521Ala)	CHD1-related disorder [RCV003897385]	likely benign	5	98858978	98858978	Human		name , trait , alternate_id
405283921	CV3200429	single nucleotide variant	NM_001270.4(CHD1):c.4535A>G (p.Asp1512Gly)	CHD1-related disorder [RCV003979461]	likely benign	5	98859005	98859005	Human		name , trait , alternate_id
405690500	CV3227351	single nucleotide variant	NM_001270.4(CHD1):c.3514G>T (p.Val1172Leu)	Pilarowski-Bjornsson syndrome [RCV003991695]	uncertain significance	5	98873650	98873650	Human	1	name
405692094	CV3227636	single nucleotide variant	NM_001270.4(CHD1):c.4385T>A (p.Leu1462Gln)	Pilarowski-Bjornsson syndrome [RCV003991982]	uncertain significance	5	98863450	98863450	Human	1	name
405660730	CV3300650	single nucleotide variant	NM_001270.4(CHD1):c.3132G>C (p.Glu1044Asp)	not specified [RCV004438953]	uncertain significance	5	98879657	98879657	Human		name
405660733	CV3300651	single nucleotide variant	NM_001270.4(CHD1):c.3739G>A (p.Ala1247Thr)	not specified [RCV004438954]	uncertain significance	5	98872173	98872173	Human		name
405660736	CV3300652	single nucleotide variant	NM_001270.4(CHD1):c.4177A>G (p.Ile1393Val)	not specified [RCV004438955]	uncertain significance	5	98868566	98868566	Human		name
405660740	CV3300653	single nucleotide variant	NM_001270.4(CHD1):c.4224G>C (p.Glu1408Asp)	not specified [RCV004438956]	uncertain significance	5	98868519	98868519	Human		name
405660743	CV3300654	single nucleotide variant	NM_001270.4(CHD1):c.4958A>G (p.Lys1653Arg)	not specified [RCV004438957]	uncertain significance	5	98856555	98856555	Human		name
405873132	CV3398414	single nucleotide variant	NM_001270.4(CHD1):c.3148G>T (p.Asp1050Tyr)	not provided [RCV004575910]	uncertain significance	5	98879641	98879641	Human		name
407429562	CV3413972	single nucleotide variant	NM_001270.4(CHD1):c.3608G>A (p.Arg1203Gln)	Pilarowski-Bjornsson syndrome [RCV004595382]	uncertain significance	5	98872519	98872519	Human	1	name
407450549	CV3425641	single nucleotide variant	NM_001270.4(CHD1):c.4656G>T (p.Gln1552His)	not specified [RCV004607712]	uncertain significance	5	98858311	98858311	Human		name
407450552	CV3425642	single nucleotide variant	NM_001270.4(CHD1):c.4070C>G (p.Pro1357Arg)	not specified [RCV004607713]	uncertain significance	5	98869791	98869791	Human		name
408384998	CV3506723	single nucleotide variant	NM_001270.4(CHD1):c.4623G>C (p.Arg1541Ser)	CHD1-related disorder [RCV004732299]	uncertain significance	5	98858344	98858344	Human		name , trait , alternate_id
408380371	CV3514500	single nucleotide variant	NM_001270.4(CHD1):c.3334C>T (p.Arg1112Cys)	CHD1-related disorder [RCV004754124]	uncertain significance	5	98876462	98876462	Human		name , trait , alternate_id
408379227	CV3516435	single nucleotide variant	NM_001270.4(CHD1):c.4692T>G (p.Asp1564Glu)	CHD1-related disorder [RCV004752604]	uncertain significance	5	98858275	98858275	Human		name , trait , alternate_id
408389051	CV3522878	single nucleotide variant	NM_001270.4(CHD1):c.4496A>T (p.His1499Leu)	not provided [RCV004769259]	uncertain significance	5	98860000	98860000	Human		name
408387862	CV3527239	single nucleotide variant	NM_001270.4(CHD1):c.3254G>T (p.Ser1085Ile)	not provided [RCV004773541]	uncertain significance	5	98876542	98876542	Human		name
596921322	CV3534885	single nucleotide variant	NM_001270.4(CHD1):c.3895G>A (p.Ala1299Thr)	not provided [RCV004784443]	uncertain significance	5	98870770	98870770	Human		name
596921790	CV3535416	single nucleotide variant	NM_001270.4(CHD1):c.4324G>T (p.Glu1442Ter)	Pilarowski-Bjornsson syndrome [RCV004784971]	uncertain significance	5	98863511	98863511	Human	1	name
596946094	CV3550379	single nucleotide variant	NM_001270.4(CHD1):c.5081C>G (p.Ser1694Ter)	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy [RCV004818920]	uncertain significance	5	98856432	98856432	Human	1	name
597648277	CV3551702	single nucleotide variant	NM_001270.4(CHD1):c.4595A>G (p.Glu1532Gly)	not provided [RCV004820415]	uncertain significance	5	98858372	98858372	Human		name
597797822	CV3656229	single nucleotide variant	NM_001270.4(CHD1):c.3229G>A (p.Ala1077Thr)	not specified [RCV004904495]	uncertain significance	5	98879560	98879560	Human		name
597797839	CV3656236	single nucleotide variant	NM_001270.4(CHD1):c.3589G>A (p.Val1197Met)	not specified [RCV004904501]	uncertain significance	5	98872538	98872538	Human		name
597797843	CV3656237	single nucleotide variant	NM_001270.4(CHD1):c.4539A>C (p.Gln1513His)	not specified [RCV004904502]	uncertain significance	5	98859001	98859001	Human		name
597797858	CV3656242	single nucleotide variant	NM_001270.4(CHD1):c.3623A>C (p.Gln1208Pro)	not specified [RCV004904507]	uncertain significance	5	98872504	98872504	Human		name
597853494	CV3762327	single nucleotide variant	NM_001270.4(CHD1):c.3085G>A (p.Glu1029Lys)	not specified [RCV005088243]	uncertain significance	5	98879704	98879704	Human		name
597854191	CV3762446	single nucleotide variant	NM_001270.4(CHD1):c.4930C>G (p.Arg1644Gly)	not specified [RCV005088362]	uncertain significance	5	98856583	98856583	Human		name
597855324	CV3762694	single nucleotide variant	NM_001270.4(CHD1):c.3436G>C (p.Glu1146Gln)	not specified [RCV005088612]	uncertain significance	5	98875076	98875076	Human		name
597831769	CV3863922	single nucleotide variant	NM_001270.4(CHD1):c.3271A>G (p.Arg1091Gly)	Pilarowski-Bjornsson syndrome [RCV005208336]	uncertain significance	5	98876525	98876525	Human	1	name
597845974	CV3880543	single nucleotide variant	NM_001270.4(CHD1):c.4267C>T (p.Pro1423Ser)	not provided [RCV005227431]	uncertain significance	5	98863568	98863568	Human		name
598125534	CV3881677	single nucleotide variant	NM_001270.4(CHD1):c.4417C>T (p.Gln1473Ter)	Pilarowski-Bjornsson syndrome [RCV005232580]	uncertain significance	5	98863418	98863418	Human	1	name
598126531	CV3881980	single nucleotide variant	NM_001270.4(CHD1):c.3260G>C (p.Gly1087Ala)	not provided [RCV005233532]	uncertain significance	5	98876536	98876536	Human		name
598126944	CV3882384	single nucleotide variant	NM_001270.4(CHD1):c.4015A>C (p.Asn1339His)	not provided [RCV005233935]	uncertain significance	5	98869846	98869846	Human		name
598174779	CV3890926	single nucleotide variant	NM_001270.4(CHD1):c.3508G>T (p.Glu1170Ter)	not provided [RCV005251779]	uncertain significance	5	98873656	98873656	Human		name
598200289	CV3892641	single nucleotide variant	NM_001270.4(CHD1):c.3292T>C (p.Ser1098Pro)	not provided [RCV005254474]	uncertain significance	5	98876504	98876504	Human		name
598159186	CV3897038	single nucleotide variant	NM_001270.4(CHD1):c.3823A>T (p.Met1275Leu)	not provided [RCV005368012]	uncertain significance	5	98872089	98872089	Human		name
598256621	CV3940798	single nucleotide variant	NM_001270.4(CHD1):c.4912C>T (p.Arg1638Trp)	not specified [RCV005324243]	uncertain significance	5	98856601	98856601	Human		name
598256645	CV3940802	single nucleotide variant	NM_001270.4(CHD1):c.4409A>G (p.Gln1470Arg)	not specified [RCV005324247]	uncertain significance	5	98863426	98863426	Human		name
598256664	CV3940805	single nucleotide variant	NM_001270.4(CHD1):c.3172G>C (p.Glu1058Gln)	not specified [RCV005324250]	uncertain significance	5	98879617	98879617	Human		name
598256671	CV3940806	single nucleotide variant	NM_001270.4(CHD1):c.4594G>A (p.Glu1532Lys)	not specified [RCV005324251]	uncertain significance	5	98858373	98858373	Human		name
616935368	CV4009489	single nucleotide variant	NM_001270.4(CHD1):c.5126A>C (p.Lys1709Thr)	not provided [RCV005402661]	uncertain significance	5	98856387	98856387	Human		name
616934162	CV4012142	single nucleotide variant	NM_001270.4(CHD1):c.4038A>C (p.Lys1346Asn)	not specified [RCV005409176]	uncertain significance	5	98869823	98869823	Human		name
616938614	CV4015074	single nucleotide variant	NM_001270.4(CHD1):c.3287C>T (p.Ser1096Phe)	Pilarowski-Bjornsson syndrome [RCV005412091]	uncertain significance	5	98876509	98876509	Human	1	name
616936229	CV4016249	single nucleotide variant	NM_001270.4(CHD1):c.3266G>C (p.Arg1089Pro)	not provided [RCV005415115]	uncertain significance	5	98876530	98876530	Human		name
617152533	CV4017938	single nucleotide variant	NM_001270.4(CHD1):c.3694C>A (p.Pro1232Thr)	Pilarowski-Bjornsson syndrome [RCV005417728]	uncertain significance	5	98872433	98872433	Human	1	name
13435685	CV432451	single nucleotide variant	NM_001270.4(CHD1):c.5123G>A (p.Arg1708Gln)	Pilarowski-Bjornsson syndrome [RCV000505807]\|not provided [RCV002291279]	pathogenic\|uncertain significance	5	98856390	98856390	Human	1	name
14697893	CV623287	single nucleotide variant	NM_001270.4(CHD1):c.4894C>G (p.Arg1632Gly)	Pilarowski-Bjornsson syndrome [RCV000786915]	uncertain significance	5	98856619	98856619	Human	1	name
15174723	CV699223	single nucleotide variant	NM_001270.4(CHD1):c.4033A>G (p.Ile1345Val)	Pilarowski-Bjornsson syndrome [RCV002488031]\|not provided [RCV000950407]	benign\|likely benign	5	98869828	98869828	Human	1	name
40888414	CV971420	single nucleotide variant	NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile)	Pilarowski-Bjornsson syndrome [RCV004799513]	uncertain significance	5	98879676	98879676	Human	1	name
42723767	CV984672	single nucleotide variant	NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg)	Pilarowski-Bjornsson syndrome [RCV001291783]\|not provided [RCV004774377]	uncertain significance	5	98876459	98876459	Human	1	name
401797719	CV2741067	microsatellite	NM_001270.4(CHD1):c.666AGA[1] (p.Glu223del)	not provided [RCV003322231]	conflicting interpretations of pathogenicity\|uncertain significance	5	98900999	98901001	Human		name
408368361	CV3500606	microsatellite	NM_001270.4(CHD1):c.608AGA[1] (p.Lys204del)	Pilarowski-Bjornsson syndrome [RCV004723704]	uncertain significance	5	98901057	98901059	Human		name
401944170	CV2840537	microsatellite	NM_001270.4(CHD1):c.4067CTC[1] (p.Pro1357del)	not provided [RCV003457128]	likely benign	5	98869789	98869791	Human		name
596941168	CV3542401	deletion	NM_001270.4(CHD1):c.1633_1636del (p.Trp545fs)	Pilarowski-Bjornsson syndrome [RCV004797671]	uncertain significance	5	98896300	98896303	Human	1	name
596942384	CV3542591	deletion	NM_001270.4(CHD1):c.1132_1144del (p.Gln378fs)	See cases [RCV004798175]	likely pathogenic	5	98898706	98898718	Human		name
596946455	CV3548275	microsatellite	NM_001270.4(CHD1):c.4011GAA[1] (p.Lys1338del)	not provided [RCV004810100]	uncertain significance	5	98869845	98869847	Human		name
596940243	CV3550849	duplication	NM_001270.4(CHD1):c.1757_1758dup (p.Asn587fs)	not provided [RCV004814749]	uncertain significance	5	98894638	98894639	Human		name
150415361	CV1197433	deletion	NM_001270.4(CHD1):c.4388_4389del (p.Lys1463fs)	not provided [RCV001575365]	uncertain significance	5	98863446	98863447	Human		name
156170684	CV1867072	deletion	NM_001270.4(CHD1):c.4199_4203del (p.Val1400fs)	not provided [RCV002508624]	uncertain significance	5	98868540	98868544	Human		name
407427923	CV3412221	duplication	NM_001270.4(CHD1):c.3344_3350dup (p.Ile1118fs)	not provided [RCV004592392]	uncertain significance	5	98876445	98876446	Human		name
13611368	CV514516	insertion	NM_001270.4(CHD1):c.1807_1808insA (p.Leu603fs)	not provided [RCV000627474]	uncertain significance	5	98893599	98893600	Human		name
150501822	CV1241044	deletion	NM_001270.4(CHD1):c.5050_5052del (p.Pro1684del)	not provided [RCV001656940]	benign	5	98856461	98856463	Human		name
597843638	CV3735957	deletion	NM_001270.4(CHD1):c.2614_2617del (p.Ile871_Asn872insTer)	not provided [RCV005065306]	uncertain significance	5	98883189	98883192	Human		name
329953887	CV2669226	indel	NM_001270.4(CHD1):c.1218_1219delinsGT (p.Tyr406_Pro407delinsTer)	not provided [RCV003231730]	uncertain significance	5	98898402	98898403	Human		name
151663583	CV1334049	indel	NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp)	Pilarowski-Bjornsson syndrome [RCV001839223]	uncertain significance	5	98900932	98900935	Human		name
150499349	CV1254344	single nucleotide variant	NM_004284.6(CHD1L):c.*130=	not provided [RCV001676518]	benign	1	147295639	147295639	Human		name
150438687	CV1247210	single nucleotide variant	NM_004284.6(CHD1L):c.*163G>A	not provided [RCV001665979]	benign	1	147295672	147295672	Human		name
150515172	CV1228754	single nucleotide variant	NM_004284.6(CHD1L):c.128-185=	not provided [RCV001638743]	benign	1	147252438	147252438	Human		name
150509595	CV1229933	single nucleotide variant	NM_004284.6(CHD1L):c.988+100=	not provided [RCV001636513]	benign	1	147267618	147267618	Human		name
150457290	CV1237052	single nucleotide variant	NM_004284.6(CHD1L):c.2321-75=	not provided [RCV001648731]	benign	1	147291407	147291407	Human		name
150492527	CV1238193	single nucleotide variant	NM_004284.6(CHD1L):c.1085+39=	not provided [RCV001655039]	benign	1	147268917	147268917	Human		name
150485413	CV1250222	single nucleotide variant	NM_004284.6(CHD1L):c.1385+22=	not provided [RCV001673835]	benign	1	147275490	147275490	Human		name
150493756	CV1267212	single nucleotide variant	NM_004284.6(CHD1L):c.576+250=	not provided [RCV001688240]	benign	1	147260168	147260168	Human		name
150489725	CV1279211	single nucleotide variant	NM_004284.6(CHD1L):c.127+108=	not provided [RCV001716349]	benign	1	147242938	147242938	Human		name
15132699	CV778729	duplication	NM_004284.6(CHD1L):c.495-4dup	CHD1L-related disorder [RCV003926245]\|not provided [RCV000964821]	benign	1	147259832	147259833	Human		name , trait , alternate_id
150332060	CV1163377	variation	NM_004284.6(CHD1L):c.1854+224=	not provided [RCV001528062]	benign	1	147284723	147284723	Human		name
150331616	CV1163378	variation	NM_004284.6(CHD1L):c.2391+181=	not provided [RCV001527876]	benign	1	147291733	147291733	Human		name
150333708	CV1168768	single nucleotide variant	NM_004284.6(CHD1L):c.462+11G>A	not provided [RCV001537463]	benign	1	147255938	147255938	Human		name
150504131	CV1212621	single nucleotide variant	NM_004284.6(CHD1L):c.2222-8T>C	not provided [RCV001595496]	benign	1	147287627	147287627	Human		name
150501508	CV1213375	single nucleotide variant	NM_004284.6(CHD1L):c.463-37A>G	not provided [RCV001594787]	benign	1	147256494	147256494	Human		name
150508067	CV1213936	single nucleotide variant	NM_004284.6(CHD1L):c.1385+101=	not provided [RCV001596457]	benign	1	147275569	147275569	Human		name
150477374	CV1218617	single nucleotide variant	NM_004284.6(CHD1L):c.1086-242=	not provided [RCV001616244]	benign	1	147270690	147270690	Human		name
150451222	CV1220832	single nucleotide variant	NM_004284.6(CHD1L):c.240+18G>A	not provided [RCV001611926]	benign	1	147252753	147252753	Human		name
150482858	CV1223494	single nucleotide variant	NM_004284.6(CHD1L):c.896-17T>C	not provided [RCV001617207]	benign	1	147267409	147267409	Human		name
150515992	CV1227734	single nucleotide variant	NM_004284.6(CHD1L):c.2320+116=	not provided [RCV001639009]	benign	1	147287849	147287849	Human		name
150500091	CV1235852	single nucleotide variant	NM_004284.6(CHD1L):c.2019-256=	not provided [RCV001656535]	benign	1	147286042	147286042	Human		name
150437214	CV1237830	single nucleotide variant	NM_004284.6(CHD1L):c.2391+297=	not provided [RCV001644328]	benign	1	147291849	147291849	Human		name
150501434	CV1238396	single nucleotide variant	NM_004284.6(CHD1L):c.2392-167=	not provided [RCV001656826]	benign	1	147293441	147293441	Human		name
150445290	CV1248280	single nucleotide variant	NM_004284.6(CHD1L):c.2391+204=	not provided [RCV001666986]	benign	1	147291756	147291756	Human		name
150457875	CV1248849	single nucleotide variant	NM_004284.6(CHD1L):c.348-80G>T	not provided [RCV001669025]	benign	1	147255733	147255733	Human		name
150493108	CV1267079	single nucleotide variant	NM_004284.6(CHD1L):c.2321-299=	not provided [RCV001688106]	benign	1	147291183	147291183	Human		name
150464849	CV1268509	single nucleotide variant	NM_004284.6(CHD1L):c.1539+146=	not provided [RCV001694205]	benign	1	147276403	147276403	Human		name
150466426	CV1277403	single nucleotide variant	NM_004284.6(CHD1L):c.1160-221=	not provided [RCV001710698]	benign	1	147271950	147271950	Human		name
150446060	CV1278256	duplication	NM_004284.6(CHD1L):c.463-22dup	not provided [RCV001707399]	benign	1	147256507	147256508	Human		name
405269542	CV3201710	deletion	NM_004284.6(CHD1L):c.1706-6del	CHD1L-related disorder [RCV003899617]	likely benign	1	147284344	147284344	Human		name , trait , alternate_id
405291547	CV3205838	single nucleotide variant	NM_004284.6(CHD1L):c.1386-2A>G	CHD1L-related disorder [RCV003963961]	likely benign	1	147276102	147276102	Human		name , trait , alternate_id
405287384	CV3210609	single nucleotide variant	NM_004284.6(CHD1L):c.896-10T>A	CHD1L-related disorder [RCV003924381]	likely benign	1	147267416	147267416	Human		name , trait , alternate_id
405282478	CV3212950	deletion	NM_004284.6(CHD1L):c.896-10del	CHD1L-related disorder [RCV003957064]	likely benign	1	147267408	147267408	Human		name , trait , alternate_id
13520558	CV495053	single nucleotide variant	NM_004284.6(CHD1L):c.1086-2A>C	not provided [RCV000598731]	uncertain significance	1	147270930	147270930	Human		name
150334264	CV1170572	single nucleotide variant	NM_004284.6(CHD1L):c.348-290G>A	not provided [RCV001539931]	benign	1	147255523	147255523	Human		name
150337505	CV1170573	single nucleotide variant	NM_004284.6(CHD1L):c.348-255T>C	not provided [RCV001541695]	benign	1	147255558	147255558	Human		name
150508976	CV1214182	single nucleotide variant	NM_004284.6(CHD1L):c.739+305G>T	not provided [RCV001596703]	benign	1	147264889	147264889	Human		name
150456564	CV1219504	single nucleotide variant	NM_004284.6(CHD1L):c.2506+48C>G	not provided [RCV001612719]	benign	1	147293770	147293770	Human		name
150450748	CV1220776	single nucleotide variant	NM_004284.6(CHD1L):c.740-248A>C	not provided [RCV001611870]	benign	1	147265684	147265684	Human		name
150451604	CV1220885	single nucleotide variant	NM_004284.6(CHD1L):c.128-275A>G	not provided [RCV001611979]	benign	1	147252348	147252348	Human		name
150482158	CV1221007	single nucleotide variant	NM_004284.6(CHD1L):c.2019-52G>A	not provided [RCV001617092]	benign	1	147286246	147286246	Human	1	name
150482158	CV1221007	single nucleotide variant	NM_004284.6(CHD1L):c.2019-52G>A	not provided [RCV001617092]	benign	1	147286246	147286247	Human	1	name
150484203	CV1222441	deletion	NM_004284.6(CHD1L):c.1854+53del	not provided [RCV001617444]	benign	1	147284549	147284549	Human		name
150466849	CV1240479	single nucleotide variant	NM_004284.6(CHD1L):c.740-101G>C	not provided [RCV001650240]	benign	1	147265831	147265831	Human		name
150508636	CV1244881	single nucleotide variant	NM_004284.6(CHD1L):c.2616-50A>G	not provided [RCV001659132]	benign	1	147295381	147295381	Human		name
150446596	CV1250688	single nucleotide variant	NM_004284.6(CHD1L):c.348-340C>T	not provided [RCV001667193]	benign	1	147255473	147255473	Human		name
150490767	CV1251082	single nucleotide variant	NM_004284.6(CHD1L):c.462+181G>A	not provided [RCV001674750]	benign	1	147256108	147256108	Human		name
150459813	CV1253007	single nucleotide variant	NM_004284.6(CHD1L):c.577-270T>C	not provided [RCV001669335]	benign	1	147264152	147264152	Human		name
150479106	CV1258201	single nucleotide variant	NM_004284.6(CHD1L):c.128-337C>T	not provided [RCV001685617]	benign	1	147252286	147252286	Human		name
150475181	CV1271156	single nucleotide variant	NM_004284.6(CHD1L):c.241-349T>C	not provided [RCV001695979]	benign	1	147254521	147254521	Human		name
150474028	CV1272268	single nucleotide variant	NM_004284.6(CHD1L):c.576+241C>T	not provided [RCV001695806]	benign	1	147260159	147260159	Human		name
150463305	CV1276206	single nucleotide variant	NM_004284.6(CHD1L):c.740-234G>T	not provided [RCV001710151]	benign	1	147265698	147265698	Human		name
150512257	CV1284901	single nucleotide variant	NM_004284.6(CHD1L):c.347+215G>A	not provided [RCV001721770]	benign	1	147255191	147255191	Human		name
150334259	CV1170574	duplication	NM_004284.6(CHD1L):c.1386-307dup	not provided [RCV001539926]	benign	1	147275796	147275797	Human		name
150503220	CV1212431	single nucleotide variant	NM_004284.6(CHD1L):c.2321-180A>C	not provided [RCV001595306]	benign	1	147291302	147291302	Human		name
150441008	CV1220251	single nucleotide variant	NM_004284.6(CHD1L):c.1385+288G>T	not provided [RCV001610235]	benign	1	147275756	147275756	Human		name
150496078	CV1225235	single nucleotide variant	NM_004284.6(CHD1L):c.1706-240A>G	not provided [RCV001619713]	benign	1	147284111	147284111	Human		name
150515682	CV1227635	single nucleotide variant	NM_004284.6(CHD1L):c.2506+211C>T	not provided [RCV001638909]	benign	1	147293933	147293933	Human		name
150433220	CV1230451	single nucleotide variant	NM_004284.6(CHD1L):c.2321-179G>A	not provided [RCV001643396]	benign	1	147291303	147291303	Human		name
150430464	CV1230893	single nucleotide variant	NM_004284.6(CHD1L):c.1540-289C>A	not provided [RCV001641442]	benign	1	147279737	147279737	Human		name
150510561	CV1242418	single nucleotide variant	NM_004284.6(CHD1L):c.1159+252G>A	not provided [RCV001660768]	benign	1	147271257	147271257	Human		name
150444837	CV1249475	single nucleotide variant	NM_004284.6(CHD1L):c.1271-125G>A	not provided [RCV001666908]	benign	1	147275229	147275229	Human		name
150447083	CV1261471	single nucleotide variant	NM_004284.6(CHD1L):c.2221+198A>T	not provided [RCV001680145]	benign	1	147286698	147286698	Human		name
150490974	CV1267701	single nucleotide variant	NM_004284.6(CHD1L):c.1386-307G>A	not provided [RCV001687725]	benign	1	147275797	147275797	Human		name
150442125	CV1287673	single nucleotide variant	NM_001348451.2(CHD1L):c.-89-9992=	not provided [RCV001725393]	benign	1	147242631	147242631	Human		name
150481760	CV1222219	single nucleotide variant	NM_001348451.2(CHD1L):c.-89-10018=	not provided [RCV001617017]	benign	1	147242605	147242605	Human		name
150486452	CV1234598	single nucleotide variant	NM_001348451.2(CHD1L):c.-89-10060C>T	not provided [RCV001654021]	benign	1	147242563	147242563	Human		name
150437585	CV1249894	single nucleotide variant	NM_001348451.2(CHD1L):c.-89-10182G>T	not provided [RCV001665808]	benign	1	147242441	147242441	Human		name
150453000	CV1231774	duplication	NM_004284.6(CHD1L):c.2507-23_2507-22dup	not provided [RCV001648081]	benign	1	147294385	147294386	Human		name
150454809	CV1277070	deletion	NM_004284.6(CHD1L):c.1539+85_1539+87del	not provided [RCV001708862]	benign	1	147276341	147276343	Human		name
150469071	CV1259596	duplication	NM_004284.6(CHD1L):c.1386-307_1386-305dup	not provided [RCV001683897]	benign	1	147275794	147275795	Human		name
150512033	CV1284846	duplication	NM_004284.6(CHD1L):c.1386-307_1386-306dup	not provided [RCV001721715]	benign	1	147275795	147275796	Human		name
152135993	CV1560520	single nucleotide variant	NM_004284.6(CHD1L):c.1551A>G (p.Ile517Met)	CHD1L-related disorder [RCV003418384]\|not provided [RCV002137548]\|not specified [RCV002246682]	benign\|likely benign\|uncertain significance	1	147280037	147280037	Human		name , trait , alternate_id
152091325	CV1616169	single nucleotide variant	NM_004284.6(CHD1L):c.2295A>G (p.Ile765Met)	CHD1L-related disorder [RCV003971032]\|not provided [RCV002114114]	likely benign	1	147287708	147287708	Human		name , trait , alternate_id
156398088	CV2204194	single nucleotide variant	NM_004284.6(CHD1L):c.1781A>C (p.Gln594Pro)	CHD1L-related disorder [RCV003404141]\|not specified [RCV004076990]	uncertain significance	1	147284426	147284426	Human		name , trait , alternate_id
401913868	CV2799144	single nucleotide variant	NM_004284.6(CHD1L):c.1782A>T (p.Gln594His)	CHD1L-related disorder [RCV003400287]	uncertain significance	1	147284427	147284427	Human		name , trait , alternate_id
401928394	CV2809198	single nucleotide variant	NM_004284.6(CHD1L):c.1962A>G (p.Arg654=)	CHD1L-related disorder [RCV004754987]\|not provided [RCV003406796]	likely benign	1	147285431	147285431	Human		name , trait , alternate_id
405273991	CV3194951	single nucleotide variant	NM_004284.6(CHD1L):c.2176C>A (p.His726Asn)	CHD1L-related disorder [RCV003902193]\|not specified [RCV005323629]	uncertain significance	1	147286455	147286455	Human		name , trait , alternate_id
405286266	CV3196617	single nucleotide variant	NM_004284.6(CHD1L):c.849A>C (p.Ser283=)	CHD1L-related disorder [RCV003981460]	benign	1	147266041	147266041	Human		name , trait , alternate_id
405273814	CV3198269	single nucleotide variant	NM_004284.6(CHD1L):c.2175C>G (p.Thr725=)	CHD1L-related disorder [RCV003902037]	likely benign	1	147286454	147286454	Human		name , trait , alternate_id
405258452	CV3203813	single nucleotide variant	NM_004284.6(CHD1L):c.23G>T (p.Ser8Ile)	CHD1L-related disorder [RCV003941985]	likely benign	1	147242726	147242726	Human		name , trait , alternate_id
405275393	CV3204816	single nucleotide variant	NM_004284.6(CHD1L):c.1259G>A (p.Ser420Asn)	CHD1L-related disorder [RCV003952189]	uncertain significance	1	147272270	147272270	Human		name , trait , alternate_id
405289305	CV3205096	single nucleotide variant	NM_004284.6(CHD1L):c.1323T>C (p.Ser441=)	CHD1L-related disorder [RCV003961706]	benign	1	147275406	147275406	Human		name , trait , alternate_id
405267122	CV3205307	single nucleotide variant	NM_004284.6(CHD1L):c.1647G>A (p.Gln549=)	CHD1L-related disorder [RCV003947327]	likely benign	1	147280133	147280133	Human		name , trait , alternate_id
405286387	CV3205324	single nucleotide variant	NM_004284.6(CHD1L):c.36A>G (p.Gln12=)	CHD1L-related disorder [RCV003959521]	likely benign	1	147242739	147242739	Human		name , trait , alternate_id
405290743	CV3207602	single nucleotide variant	NM_004284.6(CHD1L):c.171C>T (p.Leu57=)	CHD1L-related disorder [RCV003927171]	likely benign	1	147252666	147252666	Human		name , trait , alternate_id
405256062	CV3208619	single nucleotide variant	NM_004284.6(CHD1L):c.1988G>A (p.Arg663Lys)	CHD1L-related disorder [RCV003939689]	likely benign	1	147285457	147285457	Human		name , trait , alternate_id
408383967	CV3506198	single nucleotide variant	NM_004284.6(CHD1L):c.111G>A (p.Arg37=)	CHD1L-related disorder [RCV004731443]	likely benign	1	147242814	147242814	Human		name , trait , alternate_id
14350111	CV590815	deletion	NM_004284.6(CHD1L):c.1929del (p.Arg643fs)	CHD1L-related disorder [RCV004754554]\|Short stature [RCV000736171]\|not provided [RCV003489850]	pathogenic\|uncertain significance	1	147285398	147285398	Human	2	name , trait , alternate_id
15132708	CV706655	single nucleotide variant	NM_004284.6(CHD1L):c.2277C>T (p.Ser759=)	CHD1L-related disorder [RCV003926246]\|not provided [RCV000964822]	benign	1	147287690	147287690	Human		name , trait , alternate_id
15201734	CV745651	single nucleotide variant	NM_004284.6(CHD1L):c.1A>T (p.Met1Leu)	CHD1L-related disorder [RCV003923189]\|not provided [RCV000913227]	likely benign	1	147242704	147242704	Human		name , trait , alternate_id
150516937	CV1227376	single nucleotide variant	NM_004284.6(CHD1L):c.39= (p.Ala13=)	not provided [RCV001639477]	benign	1	147242742	147242742	Human		name
150439137	CV1264929	single nucleotide variant	NM_004284.6(CHD1L):c.39C>T (p.Ala13=)	not provided [RCV001678922]	benign	1	147242742	147242742	Human		name
597797882	CV3656250	single nucleotide variant	NM_004284.6(CHD1L):c.7C>T (p.Arg3Cys)	not specified [RCV004904515]	uncertain significance	1	147242710	147242710	Human		name
401777555	CV2704147	single nucleotide variant	NM_004284.6(CHD1L):c.17C>G (p.Ala6Gly)	not specified [RCV004311163]	uncertain significance	1	147242720	147242720	Human		name
14399912	CV613521	single nucleotide variant	NM_004284.6(CHD1L):c.234C>T (p.Thr78=)	Abnormality of the urinary system [RCV000766280]	uncertain significance	1	147252729	147252729	Human	2	name
150445371	CV1248293	single nucleotide variant	NM_004284.6(CHD1L):c.74G>C (p.Arg25Pro)	not provided [RCV001666999]	benign	1	147242777	147242777	Human		name
150446453	CV1278317	single nucleotide variant	NM_004284.6(CHD1L):c.588C>T (p.Val196=)	not provided [RCV001707460]	benign	1	147264433	147264433	Human		name
155963021	CV2388334	single nucleotide variant	NM_004284.6(CHD1L):c.35A>G (p.Gln12Arg)	not provided [RCV004691557]\|not specified [RCV004234785]	uncertain significance	1	147242738	147242738	Human		name
401720071	CV2705638	single nucleotide variant	NM_004284.6(CHD1L):c.47T>A (p.Phe16Tyr)	not specified [RCV004318496]	uncertain significance	1	147242750	147242750	Human		name
405660787	CV3300668	single nucleotide variant	NM_004284.6(CHD1L):c.28G>C (p.Gly10Arg)	not specified [RCV004438971]	uncertain significance	1	147242731	147242731	Human		name
407450578	CV3425650	single nucleotide variant	NM_004284.6(CHD1L):c.34C>A (p.Gln12Lys)	not specified [RCV004607721]	uncertain significance	1	147242737	147242737	Human		name
407450586	CV3425654	single nucleotide variant	NM_004284.6(CHD1L):c.86C>T (p.Ala29Val)	not specified [RCV004607725]	uncertain significance	1	147242789	147242789	Human		name
598128307	CV3887507	single nucleotide variant	NM_004284.6(CHD1L):c.990T>A (p.Gly330=)	not provided [RCV005243680]	likely benign	1	147268783	147268783	Human		name
598213415	CV3940817	single nucleotide variant	NM_004284.6(CHD1L):c.37G>T (p.Ala13Ser)	not specified [RCV005316332]	uncertain significance	1	147242740	147242740	Human		name
598213420	CV3940818	single nucleotide variant	NM_004284.6(CHD1L):c.31G>T (p.Gly11Cys)	not specified [RCV005316333]	uncertain significance	1	147242734	147242734	Human		name
15161876	CV706654	single nucleotide variant	NM_004284.6(CHD1L):c.672C>G (p.Leu224=)	not provided [RCV000970167]	benign	1	147264517	147264517	Human		name
15188291	CV731681	single nucleotide variant	NM_004284.6(CHD1L):c.606C>T (p.Thr202=)	not provided [RCV000909328]	benign	1	147264451	147264451	Human		name
404989283	CV2849806	duplication	NM_004284.6(CHD1L):c.676dup (p.Ser226fs)	not provided [RCV003490554]	uncertain significance	1	147264517	147264518	Human		name
405660770	CV3300663	single nucleotide variant	NM_004284.6(CHD1L):c.226G>T (p.Gly76Trp)	not specified [RCV004438966]	uncertain significance	1	147252721	147252721	Human		name
405660777	CV3300665	single nucleotide variant	NM_004284.6(CHD1L):c.236G>T (p.Cys79Phe)	not specified [RCV004438968]	uncertain significance	1	147252731	147252731	Human		name
407455863	CV3415765	single nucleotide variant	NM_004284.6(CHD1L):c.2323C>T (p.Leu775=)	not provided [RCV004598641]	likely benign	1	147291484	147291484	Human		name
407450576	CV3425649	single nucleotide variant	NM_004284.6(CHD1L):c.139C>T (p.Arg47Cys)	not specified [RCV004607720]	uncertain significance	1	147252634	147252634	Human		name
407450580	CV3425651	single nucleotide variant	NM_004284.6(CHD1L):c.112C>A (p.Gln38Lys)	not specified [RCV004607722]	uncertain significance	1	147242815	147242815	Human		name
407450582	CV3425652	single nucleotide variant	NM_004284.6(CHD1L):c.117G>C (p.Trp39Cys)	not specified [RCV004607723]	uncertain significance	1	147242820	147242820	Human		name
596947637	CV3547217	single nucleotide variant	NM_004284.6(CHD1L):c.178C>T (p.Arg60Cys)	not provided [RCV004811521]\|not specified [RCV005323670]	likely benign\|uncertain significance	1	147252673	147252673	Human		name
598213450	CV3940823	single nucleotide variant	NM_004284.6(CHD1L):c.100C>A (p.Gln34Lys)	not specified [RCV005316338]	uncertain significance	1	147242803	147242803	Human		name
15184861	CV696055	single nucleotide variant	NM_004284.6(CHD1L):c.1623C>A (p.Ile541=)	not provided [RCV000952811]	benign	1	147280109	147280109	Human		name
15190083	CV696057	single nucleotide variant	NM_004284.6(CHD1L):c.1986G>A (p.Lys662=)	not provided [RCV000954371]	benign	1	147285455	147285455	Human		name
150453432	CV1203799	single nucleotide variant	NM_004284.6(CHD1L):c.459T>G (p.Tyr153Ter)	not provided [RCV001591755]	uncertain significance	1	147255924	147255924	Human		name
155926679	CV2230662	single nucleotide variant	NM_004284.6(CHD1L):c.413A>C (p.Gln138Pro)	not specified [RCV004097610]	uncertain significance	1	147255878	147255878	Human		name
156063811	CV2240183	single nucleotide variant	NM_004284.6(CHD1L):c.869A>G (p.Tyr290Cys)	not specified [RCV004110941]	uncertain significance	1	147266061	147266061	Human		name
156085133	CV2249308	single nucleotide variant	NM_004284.6(CHD1L):c.624C>G (p.Asn208Lys)	not specified [RCV004118330]	uncertain significance	1	147264469	147264469	Human		name
156196410	CV2259179	single nucleotide variant	NM_004284.6(CHD1L):c.719T>C (p.Ile240Thr)	not specified [RCV004120419]	uncertain significance	1	147264564	147264564	Human		name
12791310	CV226070	single nucleotide variant	NM_004284.6(CHD1L):c.707G>A (p.Arg236His)	Congenital anomaly of kidney and urinary tract [RCV000416565]\|not provided [RCV000994092]	uncertain significance	1	147264552	147264552	Human	1	name
156363190	CV2330581	single nucleotide variant	NM_004284.6(CHD1L):c.983T>G (p.Phe328Cys)	not specified [RCV004181135]	uncertain significance	1	147267513	147267513	Human		name
156083471	CV2330686	single nucleotide variant	NM_004284.6(CHD1L):c.433C>T (p.Arg145Cys)	not specified [RCV004185755]	uncertain significance	1	147255898	147255898	Human		name
156161669	CV2398289	single nucleotide variant	NM_004284.6(CHD1L):c.605C>T (p.Thr202Ile)	not specified [RCV004235197]	uncertain significance	1	147264450	147264450	Human		name
329372040	CV2442870	single nucleotide variant	NM_004284.6(CHD1L):c.307C>T (p.Pro103Ser)	not specified [RCV004253478]	uncertain significance	1	147254936	147254936	Human		name
11642999	CV263937	single nucleotide variant	NM_004284.6(CHD1L):c.834A>G (p.Ile278Met)	not provided [RCV000385994]	uncertain significance	1	147266026	147266026	Human		name
401865268	CV2754170	single nucleotide variant	NM_004284.6(CHD1L):c.463A>T (p.Ile155Phe)	not specified [RCV004334362]	uncertain significance	1	147256531	147256531	Human		name
401859315	CV2771529	single nucleotide variant	NM_004284.6(CHD1L):c.587T>C (p.Val196Ala)	not specified [RCV004348559]	uncertain significance	1	147264432	147264432	Human		name
401876161	CV2789315	single nucleotide variant	NM_004284.6(CHD1L):c.829G>A (p.Val277Met)	not specified [RCV004365338]	uncertain significance	1	147266021	147266021	Human		name
401942797	CV2839866	single nucleotide variant	NM_004284.6(CHD1L):c.812C>T (p.Pro271Leu)	not provided [RCV003456653]	uncertain significance	1	147266004	147266004	Human		name
404989294	CV2849807	single nucleotide variant	NM_004284.6(CHD1L):c.762G>T (p.Leu254Phe)	not provided [RCV003490555]	uncertain significance	1	147265954	147265954	Human		name
404989857	CV2849808	deletion	NM_004284.6(CHD1L):c.2364del (p.Glu789fs)	not provided [RCV003490556]	uncertain significance	1	147291523	147291523	Human		name
405660793	CV3300670	single nucleotide variant	NM_004284.6(CHD1L):c.608G>C (p.Gly203Ala)	not specified [RCV004438973]	uncertain significance	1	147264453	147264453	Human		name
405660796	CV3300671	single nucleotide variant	NM_004284.6(CHD1L):c.665C>T (p.Pro222Leu)	not specified [RCV004438974]	uncertain significance	1	147264510	147264510	Human		name
405660799	CV3300672	single nucleotide variant	NM_004284.6(CHD1L):c.835T>C (p.Tyr279His)	not specified [RCV004438975]	uncertain significance	1	147266027	147266027	Human		name
407450555	CV3425643	single nucleotide variant	NM_004284.6(CHD1L):c.641A>G (p.Tyr214Cys)	not specified [RCV004607714]	uncertain significance	1	147264486	147264486	Human		name
407450563	CV3425645	single nucleotide variant	NM_004284.6(CHD1L):c.458A>T (p.Tyr153Phe)	not specified [RCV004607716]	uncertain significance	1	147255923	147255923	Human		name
407450567	CV3425646	single nucleotide variant	NM_004284.6(CHD1L):c.997C>A (p.Pro333Thr)	not specified [RCV004607717]	uncertain significance	1	147268790	147268790	Human		name
597797893	CV3656254	single nucleotide variant	NM_004284.6(CHD1L):c.790G>C (p.Ala264Pro)	not specified [RCV004904519]	uncertain significance	1	147265982	147265982	Human		name
597797899	CV3656256	single nucleotide variant	NM_004284.6(CHD1L):c.498C>G (p.Phe166Leu)	not specified [RCV004904521]	uncertain significance	1	147259840	147259840	Human		name
598223149	CV3893969	single nucleotide variant	NM_004284.6(CHD1L):c.607G>A (p.Gly203Arg)	not provided [RCV005257212]	uncertain significance	1	147264452	147264452	Human		name
598213408	CV3940816	single nucleotide variant	NM_004284.6(CHD1L):c.914C>T (p.Thr305Met)	not specified [RCV005316331]	likely benign	1	147267444	147267444	Human		name
598213433	CV3940820	single nucleotide variant	NM_004284.6(CHD1L):c.646C>T (p.Leu216Phe)	not specified [RCV005316335]	uncertain significance	1	147264491	147264491	Human		name
150489295	CV1250528	single nucleotide variant	NM_004284.6(CHD1L):c.2228C>G (p.Ser743Cys)	not provided [RCV001674491]	benign	1	147287641	147287641	Human		name
150516141	CV1287229	single nucleotide variant	NM_004284.6(CHD1L):c.1050C>G (p.His350Gln)	not provided [RCV001723225]	benign	1	147268843	147268843	Human		name
152117548	CV1538896	single nucleotide variant	NM_004284.6(CHD1L):c.2479A>G (p.Ile827Val)	not provided [RCV002175135]	likely benign	1	147293695	147293695	Human		name
152134129	CV1590350	single nucleotide variant	NM_004284.6(CHD1L):c.2098G>A (p.Gly700Arg)	not provided [RCV002218477]	benign\|likely benign	1	147286377	147286377	Human		name
152978581	CV1671783	single nucleotide variant	NM_004284.6(CHD1L):c.1954G>A (p.Ala652Thr)	Decreased total neutrophil count [RCV002227882]	likely benign	1	147285423	147285423	Human	3	name
156400937	CV2213599	single nucleotide variant	NM_004284.6(CHD1L):c.2218G>A (p.Val740Ile)	not specified [RCV004089686]	uncertain significance	1	147286497	147286497	Human		name
12791825	CV226071	single nucleotide variant	NM_004284.6(CHD1L):c.2206A>G (p.Ile736Val)	Congenital anomaly of kidney and urinary tract [RCV000416573]	uncertain significance	1	147286485	147286485	Human	1	name
12791829	CV226072	single nucleotide variant	NM_004284.6(CHD1L):c.2278G>A (p.Ala760Thr)	Congenital anomaly of kidney and urinary tract [RCV000416594]	uncertain significance	1	147287691	147287691	Human	1	name
156151037	CV2268923	single nucleotide variant	NM_004284.6(CHD1L):c.2395G>T (p.Ala799Ser)	not specified [RCV004128335]	uncertain significance	1	147293611	147293611	Human		name
156258978	CV2277790	single nucleotide variant	NM_004284.6(CHD1L):c.1825G>A (p.Glu609Lys)	not specified [RCV004147217]	uncertain significance	1	147284470	147284470	Human		name
156244668	CV2283365	single nucleotide variant	NM_004284.6(CHD1L):c.1081T>C (p.Ser361Pro)	not specified [RCV004146019]	uncertain significance	1	147268874	147268874	Human		name
155930829	CV2297087	single nucleotide variant	NM_004284.6(CHD1L):c.1706A>G (p.Lys569Arg)	not specified [RCV004150996]	uncertain significance	1	147284351	147284351	Human		name
156168545	CV2299440	single nucleotide variant	NM_004284.6(CHD1L):c.2240G>T (p.Gly747Val)	not specified [RCV004154524]	uncertain significance	1	147287653	147287653	Human		name
155909826	CV2303468	single nucleotide variant	NM_004284.6(CHD1L):c.2524C>T (p.Arg842Cys)	not specified [RCV004161581]	uncertain significance	1	147294426	147294426	Human		name
156261469	CV2314731	single nucleotide variant	NM_004284.6(CHD1L):c.2180C>G (p.Pro727Arg)	not specified [RCV004170874]	uncertain significance	1	147286459	147286459	Human		name
155907462	CV2354431	single nucleotide variant	NM_004284.6(CHD1L):c.1415G>A (p.Arg472Gln)	not specified [RCV004200379]	uncertain significance	1	147276133	147276133	Human		name
156259163	CV2366220	single nucleotide variant	NM_004284.6(CHD1L):c.2453C>T (p.Ala818Val)	not specified [RCV004210238]	uncertain significance	1	147293669	147293669	Human		name
155933466	CV2372282	single nucleotide variant	NM_004284.6(CHD1L):c.1595C>T (p.Thr532Ile)	not specified [RCV004217057]	uncertain significance	1	147280081	147280081	Human		name
156033111	CV2376558	single nucleotide variant	NM_004284.6(CHD1L):c.2452G>A (p.Ala818Thr)	not specified [RCV004220722]	uncertain significance	1	147293668	147293668	Human		name
401721221	CV2673641	single nucleotide variant	NM_004284.6(CHD1L):c.1843A>T (p.Asn615Tyr)	not specified [RCV004282375]	uncertain significance	1	147284488	147284488	Human		name
401758219	CV2678276	single nucleotide variant	NM_004284.6(CHD1L):c.2518C>T (p.Leu840Phe)	not specified [RCV004290273]	uncertain significance	1	147294420	147294420	Human		name
401759805	CV2698634	single nucleotide variant	NM_004284.6(CHD1L):c.2218G>C (p.Val740Leu)	not specified [RCV004299110]	uncertain significance	1	147286497	147286497	Human		name
401778390	CV2714692	single nucleotide variant	NM_004284.6(CHD1L):c.2657A>T (p.Gln886Leu)	not specified [RCV004320268]	uncertain significance	1	147295472	147295472	Human		name
401737089	CV2717941	single nucleotide variant	NM_004284.6(CHD1L):c.1597A>G (p.Met533Val)	not specified [RCV004321899]	uncertain significance	1	147280083	147280083	Human		name
401737337	CV2718074	single nucleotide variant	NM_004284.6(CHD1L):c.1337A>G (p.Gln446Arg)	not specified [RCV004315795]	uncertain significance	1	147275420	147275420	Human		name
401889459	CV2756595	single nucleotide variant	NM_004284.6(CHD1L):c.1469C>T (p.Thr490Ile)	not specified [RCV004345118]	uncertain significance	1	147276187	147276187	Human		name
401881196	CV2784554	single nucleotide variant	NM_004284.6(CHD1L):c.2212C>A (p.His738Asn)	not specified [RCV004358710]	uncertain significance	1	147286491	147286491	Human		name
401894528	CV2788330	single nucleotide variant	NM_004284.6(CHD1L):c.2266G>C (p.Glu756Gln)	not specified [RCV004352910]	uncertain significance	1	147287679	147287679	Human		name
405660753	CV3300657	single nucleotide variant	NM_004284.6(CHD1L):c.1519G>A (p.Ala507Thr)	not specified [RCV004438960]	uncertain significance	1	147276237	147276237	Human		name
405660759	CV3300659	single nucleotide variant	NM_004284.6(CHD1L):c.1723T>C (p.Phe575Leu)	not specified [RCV004438962]	uncertain significance	1	147284368	147284368	Human		name
405660762	CV3300660	single nucleotide variant	NM_004284.6(CHD1L):c.2024C>T (p.Ala675Val)	not specified [RCV004438963]	uncertain significance	1	147286303	147286303	Human		name
405660764	CV3300661	single nucleotide variant	NM_004284.6(CHD1L):c.2073G>C (p.Glu691Asp)	not specified [RCV004438964]	uncertain significance	1	147286352	147286352	Human		name
405660767	CV3300662	single nucleotide variant	NM_004284.6(CHD1L):c.2240G>C (p.Gly747Ala)	not specified [RCV004438965]	uncertain significance	1	147287653	147287653	Human		name
405660774	CV3300664	single nucleotide variant	NM_004284.6(CHD1L):c.2296T>A (p.Tyr766Asn)	not specified [RCV004438967]	uncertain significance	1	147287709	147287709	Human		name
405660780	CV3300666	single nucleotide variant	NM_004284.6(CHD1L):c.2606C>A (p.Pro869Gln)	not specified [RCV004438969]	uncertain significance	1	147294508	147294508	Human		name
405660783	CV3300667	single nucleotide variant	NM_004284.6(CHD1L):c.2647C>T (p.Leu883Phe)	not specified [RCV004438970]	uncertain significance	1	147295462	147295462	Human		name
407457993	CV3416275	single nucleotide variant	NM_004284.6(CHD1L):c.2284C>G (p.Pro762Ala)	not provided [RCV004599153]	uncertain significance	1	147287697	147287697	Human		name
407450559	CV3425644	single nucleotide variant	NM_004284.6(CHD1L):c.2417G>A (p.Arg806His)	not specified [RCV004607715]	uncertain significance	1	147293633	147293633	Human		name
407450572	CV3425648	single nucleotide variant	NM_004284.6(CHD1L):c.1093C>T (p.Arg365Trp)	not specified [RCV004607719]	uncertain significance	1	147270939	147270939	Human		name
407450584	CV3425653	single nucleotide variant	NM_004284.6(CHD1L):c.1402C>G (p.Arg468Gly)	not specified [RCV004607724]	uncertain significance	1	147276120	147276120	Human		name
12740860	CV359208	single nucleotide variant	NM_004284.6(CHD1L):c.1832G>A (p.Arg611Gln)	not specified [RCV000413329]	uncertain significance	1	147284477	147284477	Human		name
597797864	CV3656244	single nucleotide variant	NM_004284.6(CHD1L):c.2174C>T (p.Thr725Ile)	not specified [RCV004904509]	uncertain significance	1	147286453	147286453	Human		name
597797867	CV3656245	single nucleotide variant	NM_004284.6(CHD1L):c.1566G>C (p.Leu522Phe)	not specified [RCV004904510]	uncertain significance	1	147280052	147280052	Human		name
597797870	CV3656246	single nucleotide variant	NM_004284.6(CHD1L):c.2194G>A (p.Glu732Lys)	not specified [RCV004904511]	uncertain significance	1	147286473	147286473	Human		name
597798165	CV3656247	single nucleotide variant	NM_004284.6(CHD1L):c.2077G>A (p.Glu693Lys)	not specified [RCV004904512]	uncertain significance	1	147286356	147286356	Human		name
597797876	CV3656248	single nucleotide variant	NM_004284.6(CHD1L):c.1932G>T (p.Gln644His)	not specified [RCV004904513]	uncertain significance	1	147285401	147285401	Human		name
597797879	CV3656249	single nucleotide variant	NM_004284.6(CHD1L):c.1544G>T (p.Ser515Ile)	not specified [RCV004904514]	uncertain significance	1	147280030	147280030	Human		name
597797885	CV3656251	single nucleotide variant	NM_004284.6(CHD1L):c.1763A>G (p.Asp588Gly)	not specified [RCV004904516]	uncertain significance	1	147284408	147284408	Human		name
597797890	CV3656253	single nucleotide variant	NM_004284.6(CHD1L):c.1236G>C (p.Gln412His)	not specified [RCV004904518]	uncertain significance	1	147272247	147272247	Human		name
597797896	CV3656255	single nucleotide variant	NM_004284.6(CHD1L):c.1369C>T (p.Arg457Cys)	not specified [RCV004904520]	uncertain significance	1	147275452	147275452	Human		name
598256686	CV3940809	single nucleotide variant	NM_004284.6(CHD1L):c.2376C>G (p.Asn792Lys)	not specified [RCV005324254]	uncertain significance	1	147291537	147291537	Human		name
598264335	CV3940810	single nucleotide variant	NM_004284.6(CHD1L):c.2461G>A (p.Glu821Lys)	not specified [RCV005326107]	uncertain significance	1	147293677	147293677	Human		name
598256691	CV3940811	single nucleotide variant	NM_004284.6(CHD1L):c.1885A>G (p.Thr629Ala)	not specified [RCV005324255]	uncertain significance	1	147285354	147285354	Human		name
598256697	CV3940812	single nucleotide variant	NM_004284.6(CHD1L):c.1640A>G (p.Asp547Gly)	not specified [RCV005324256]	uncertain significance	1	147280126	147280126	Human		name
598213400	CV3940815	single nucleotide variant	NM_004284.6(CHD1L):c.1703G>T (p.Gly568Val)	not specified [RCV005316330]	uncertain significance	1	147280189	147280189	Human		name
598213426	CV3940819	single nucleotide variant	NM_004284.6(CHD1L):c.1896G>T (p.Lys632Asn)	not specified [RCV005316334]	uncertain significance	1	147285365	147285365	Human		name
598213444	CV3940822	single nucleotide variant	NM_004284.6(CHD1L):c.1458A>T (p.Lys486Asn)	not specified [RCV005316337]	uncertain significance	1	147276176	147276176	Human		name
12901233	CV404903	single nucleotide variant	NM_004284.6(CHD1L):c.2179C>A (p.Pro727Thr)	not provided [RCV000484211]\|not specified [RCV004023208]	uncertain significance	1	147286458	147286458	Human		name
12906081	CV413246	single nucleotide variant	NM_004284.6(CHD1L):c.1886C>A (p.Thr629Asn)	not provided [RCV000488392]\|not specified [RCV004023227]	uncertain significance	1	147285355	147285355	Human		name
13483451	CV442614	single nucleotide variant	NM_004284.6(CHD1L):c.2117A>G (p.Glu706Gly)	not provided [RCV000522058]	uncertain significance	1	147286396	147286396	Human		name
13487185	CV442615	single nucleotide variant	NM_004284.6(CHD1L):c.2386G>T (p.Asp796Tyr)	not provided [RCV000523146]	uncertain significance	1	147291547	147291547	Human		name
13515797	CV490475	single nucleotide variant	NM_004284.6(CHD1L):c.2410C>T (p.Gln804Ter)	not provided [RCV000911849]\|not specified [RCV000594735]	likely benign	1	147293626	147293626	Human		name
13522792	CV490480	single nucleotide variant	NM_004284.6(CHD1L):c.2040C>A (p.Asn680Lys)	not provided [RCV000592190]	uncertain significance	1	147286319	147286319	Human		name
13833457	CV584691	single nucleotide variant	NM_004284.6(CHD1L):c.1840C>T (p.Arg614Ter)	not provided [RCV000728724]	uncertain significance	1	147284485	147284485	Human		name
15165306	CV696056	single nucleotide variant	NM_004284.6(CHD1L):c.1946A>C (p.Glu649Ala)	not provided [RCV000948556]	benign	1	147285415	147285415	Human		name
15184864	CV696058	single nucleotide variant	NM_004284.6(CHD1L):c.2653T>G (p.Ser885Ala)	not provided [RCV000952812]	benign	1	147295468	147295468	Human	1	name
15184864	CV696058	single nucleotide variant	NM_004284.6(CHD1L):c.2653T>G (p.Ser885Ala)	not provided [RCV000952812]	benign	1	147295468	147295469	Human	1	name
15157957	CV706656	single nucleotide variant	NM_004284.6(CHD1L):c.2328T>A (p.Ser776Arg)	not provided [RCV000969409]	benign	1	147291489	147291489	Human		name
15099800	CV745652	single nucleotide variant	NM_004284.6(CHD1L):c.1598T>C (p.Met533Thr)	not provided [RCV000914510]	likely benign	1	147280084	147280084	Human		name
21071729	CV794410	single nucleotide variant	NM_004284.6(CHD1L):c.2686G>A (p.Val896Met)	not provided [RCV000994093]\|not specified [RCV004897658]	uncertain significance	1	147295501	147295501	Human		name
28897111	CV858838	single nucleotide variant	NM_004284.6(CHD1L):c.1097T>C (p.Val366Ala)	not provided [RCV001092897]	uncertain significance	1	147270943	147270943	Human		name
126908713	CV969889	single nucleotide variant	NM_004284.6(CHD1L):c.1256T>C (p.Leu419Pro)	Hereditary breast ovarian cancer syndrome [RCV001374538]	uncertain significance	1	147272267	147272267	Human	1	name

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