Sall2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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159 records found for search term Sall2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405266451	CV3201994	single nucleotide variant	NM_001364564.1(SALL2):c.*496A>C	SALL2-related disorder [RCV003911478]	likely benign	14	21522208	21522208	Human		name , trait , alternate_id
405260329	CV3209159	single nucleotide variant	NM_001364564.1(SALL2):c.*657C>T	SALL2-related disorder [RCV003943863]	likely benign	14	21522047	21522047	Human		name , trait , alternate_id
598203848	CV3896543	deletion	NM_001364564.1(SALL2):c.*634del	Coloboma, ocular, autosomal recessive [RCV005356768]	uncertain significance	14	21522070	21522070	Human	1	name
152160785	CV1568519	variation	NM_001364564.1(SALL2):c.358= (p.Ser120=)	not provided [RCV002203394]	benign	14	21525364	21525364	Human		name
152084845	CV1554960	variation	NM_001364564.1(SALL2):c.2230= (p.Arg744=)	not provided [RCV002211902]	benign	14	21523492	21523492	Human		name
156261585	CV1977570	single nucleotide variant	NM_001364564.1(SALL2):c.225C>T (p.Ala75=)	not provided [RCV002597798]	likely benign	14	21525497	21525497	Human		name
402501098	CV2872882	single nucleotide variant	NM_001364564.1(SALL2):c.144C>T (p.Leu48=)	not provided [RCV003545883]	likely benign	14	21525578	21525578	Human		name
405282390	CV3212890	single nucleotide variant	NM_001364564.1(SALL2):c.23G>A (p.Ser8Asn)	SALL2-related disorder [RCV003957014]	benign	14	21526105	21526105	Human		name , trait , alternate_id
597925978	CV3808780	single nucleotide variant	NM_001364564.1(SALL2):c.222G>A (p.Ser74=)	not provided [RCV005156295]	likely benign	14	21525500	21525500	Human		name
9481112	CV153684	single nucleotide variant	NM_001364564.1(SALL2):c.79G>T (p.Glu27Ter)	Coloboma, ocular, autosomal recessive [RCV000133468]	pathogenic	14	21525643	21525643	Human	1	name
156413752	CV1979121	single nucleotide variant	NM_001364564.1(SALL2):c.927T>C (p.Asp309=)	not provided [RCV002608935]	likely benign	14	21524795	21524795	Human		name
156272905	CV2018501	single nucleotide variant	NM_001364564.1(SALL2):c.405C>T (p.Gly135=)	not provided [RCV002715043]	likely benign	14	21525317	21525317	Human		name
405154731	CV3068798	single nucleotide variant	NM_001364564.1(SALL2):c.642G>A (p.Thr214=)	SALL2-related disorder [RCV003966638]\|not provided [RCV003726664]	likely benign	14	21525080	21525080	Human	1	name , trait , alternate_id
405055909	CV3151401	single nucleotide variant	NM_001364564.1(SALL2):c.747C>T (p.Ser249=)	not provided [RCV003849810]	likely benign	14	21524975	21524975	Human		name
405290055	CV3206134	single nucleotide variant	NM_001364564.1(SALL2):c.930G>A (p.Gln310=)	SALL2-related disorder [RCV003962156]	likely benign	14	21524792	21524792	Human		name , trait , alternate_id
407469106	CV3483516	single nucleotide variant	NM_001364564.1(SALL2):c.74C>G (p.Ala25Gly)	not specified [RCV004661365]	uncertain significance	14	21525648	21525648	Human		name
597910154	CV3770331	single nucleotide variant	NM_001364564.1(SALL2):c.498G>A (p.Pro166=)	not provided [RCV005113632]	likely benign	14	21525224	21525224	Human		name
15178217	CV769722	single nucleotide variant	NM_001364564.1(SALL2):c.825T>C (p.Leu275=)	not provided [RCV000929345]	likely benign	14	21524897	21524897	Human		name
8635152	CV90374	single nucleotide variant	NM_005407.2(SALL2):c.2761C>T (p.Pro921Ser)	Malignant melanoma [RCV000070472]	not provided	14	21522967	21522967	Human		name
152093126	CV1631907	single nucleotide variant	NM_001364564.1(SALL2):c.218C>G (p.Ser73Cys)	not provided [RCV002132291]	benign	14	21525504	21525504	Human		name
156136793	CV1911024	single nucleotide variant	NM_001364564.1(SALL2):c.2118G>A (p.Gln706=)	SALL2-related disorder [RCV003936600]\|not provided [RCV002623512]	benign\|likely benign	14	21523604	21523604	Human	1	name , trait , alternate_id
155986292	CV2091136	single nucleotide variant	NM_001364564.1(SALL2):c.2226G>A (p.Gly742=)	not provided [RCV002907941]	benign	14	21523496	21523496	Human		name
156333548	CV2091137	single nucleotide variant	NM_001364564.1(SALL2):c.1734G>A (p.Glu578=)	not provided [RCV002900075]	benign	14	21523988	21523988	Human		name
329353754	CV2439656	single nucleotide variant	NM_001364564.1(SALL2):c.134C>T (p.Thr45Ile)	not provided [RCV005101243]\|not specified [RCV004255671]	uncertain significance	14	21525588	21525588	Human		name
329372916	CV2451726	single nucleotide variant	NM_001364564.1(SALL2):c.275C>G (p.Thr92Arg)	not specified [RCV004274632]	uncertain significance	14	21525447	21525447	Human		name
401735004	CV2688680	single nucleotide variant	NM_001364564.1(SALL2):c.251A>C (p.His84Pro)	not specified [RCV004301619]	uncertain significance	14	21525471	21525471	Human		name
401910297	CV2810252	single nucleotide variant	NM_001364564.1(SALL2):c.1738T>C (p.Leu580=)	not provided [RCV003424926]	likely benign	14	21523984	21523984	Human		name
405095132	CV2878431	single nucleotide variant	NM_001364564.1(SALL2):c.2205C>T (p.Ser735=)	not provided [RCV003550088]	likely benign	14	21523517	21523517	Human		name
405237505	CV3081002	single nucleotide variant	NM_001364564.1(SALL2):c.2442G>A (p.Ala814=)	not provided [RCV003736175]	likely benign	14	21523280	21523280	Human		name
405273983	CV3194943	single nucleotide variant	NM_001364564.1(SALL2):c.292C>G (p.Pro98Ala)	SALL2-related disorder [RCV003902185]	likely benign	14	21525430	21525430	Human		name , trait , alternate_id
405275669	CV3199426	single nucleotide variant	NM_001364564.1(SALL2):c.2223C>T (p.Ser741=)	SALL2-related disorder [RCV003916834]	likely benign	14	21523499	21523499	Human		name , trait , alternate_id
405280185	CV3200288	single nucleotide variant	NM_001364564.1(SALL2):c.2907C>T (p.Pro969=)	SALL2-related disorder [RCV003977190]	likely benign	14	21522815	21522815	Human		name , trait , alternate_id
405721575	CV3310332	single nucleotide variant	NM_001364564.1(SALL2):c.209C>T (p.Pro70Leu)	not specified [RCV004449889]	uncertain significance	14	21525513	21525513	Human		name
405721588	CV3310334	single nucleotide variant	NM_001364564.1(SALL2):c.227C>T (p.Ser76Phe)	not specified [RCV004449891]	uncertain significance	14	21525495	21525495	Human		name
405721594	CV3310335	single nucleotide variant	NM_001364564.1(SALL2):c.271G>A (p.Asp91Asn)	not specified [RCV004449892]	uncertain significance	14	21525451	21525451	Human		name
408367114	CV3513936	single nucleotide variant	NM_001364564.1(SALL2):c.1836C>T (p.Ala612=)	SALL2-related disorder [RCV004757841]	likely benign	14	21523886	21523886	Human		name , trait , alternate_id
597735338	CV3594599	single nucleotide variant	NM_001364564.1(SALL2):c.221C>T (p.Ser74Leu)	not specified [RCV004863644]	uncertain significance	14	21525501	21525501	Human		name
597735369	CV3594604	single nucleotide variant	NM_001364564.1(SALL2):c.285C>A (p.Ser95Arg)	not specified [RCV004863649]	uncertain significance	14	21525437	21525437	Human		name
597735402	CV3594609	single nucleotide variant	NM_001364564.1(SALL2):c.290C>G (p.Pro97Arg)	not specified [RCV004863654]	uncertain significance	14	21525432	21525432	Human		name
597930359	CV3745835	single nucleotide variant	NM_001364564.1(SALL2):c.2028C>T (p.Phe676=)	not provided [RCV005075820]	likely benign	14	21523694	21523694	Human		name
597943058	CV3847406	single nucleotide variant	NM_001364564.1(SALL2):c.254A>G (p.Asn85Ser)	not provided [RCV005188325]	uncertain significance	14	21525468	21525468	Human		name
597959029	CV3848585	single nucleotide variant	NM_001364564.1(SALL2):c.1377C>T (p.Ala459=)	not provided [RCV005192286]	likely benign	14	21524345	21524345	Human		name
598208255	CV3906476	single nucleotide variant	NM_001364564.1(SALL2):c.274A>G (p.Thr92Ala)	not specified [RCV005270205]	likely benign	14	21525448	21525448	Human		name
15139262	CV714059	single nucleotide variant	NM_001364564.1(SALL2):c.2052T>C (p.Ala684=)	not provided [RCV000965934]	benign	14	21523670	21523670	Human		name
15182432	CV714060	single nucleotide variant	NM_001364564.1(SALL2):c.1530G>C (p.Val510=)	not provided [RCV000974630]	benign	14	21524192	21524192	Human		name
15193718	CV725615	single nucleotide variant	NM_001364564.1(SALL2):c.1446C>T (p.Leu482=)	not provided [RCV000889024]	benign	14	21524276	21524276	Human		name
15128690	CV769721	single nucleotide variant	NM_001364564.1(SALL2):c.1209C>T (p.Val403=)	not provided [RCV000941758]	likely benign	14	21524513	21524513	Human		name
126737262	CV1021189	single nucleotide variant	NM_001364564.1(SALL2):c.662C>T (p.Pro221Leu)	Coloboma, ocular, autosomal recessive [RCV001335267]	uncertain significance	14	21525060	21525060	Human	1	name
156415123	CV1983194	single nucleotide variant	NM_001364564.1(SALL2):c.488C>A (p.Pro163Gln)	not provided [RCV002609522]	uncertain significance	14	21525234	21525234	Human		name
156334003	CV2230850	single nucleotide variant	NM_001364564.1(SALL2):c.305C>T (p.Ser102Phe)	not specified [RCV004092331]	uncertain significance	14	21525417	21525417	Human		name
155932204	CV2232017	single nucleotide variant	NM_001364564.1(SALL2):c.733C>T (p.Pro245Ser)	not specified [RCV004093071]	uncertain significance	14	21524989	21524989	Human		name
155963906	CV2308326	single nucleotide variant	NM_001364564.1(SALL2):c.685A>T (p.Thr229Ser)	not specified [RCV004164812]	uncertain significance	14	21525037	21525037	Human		name
155967929	CV2312773	single nucleotide variant	NM_001364564.1(SALL2):c.406G>C (p.Gly136Arg)	not specified [RCV004169489]	uncertain significance	14	21525316	21525316	Human		name
156074904	CV2331703	single nucleotide variant	NM_001364564.1(SALL2):c.641C>A (p.Thr214Lys)	not specified [RCV004184331]	uncertain significance	14	21525081	21525081	Human		name
155993838	CV2377318	single nucleotide variant	NM_001364564.1(SALL2):c.310G>A (p.Val104Met)	not provided [RCV005099118]\|not specified [RCV004225501]	uncertain significance	14	21525412	21525412	Human		name
329362268	CV2466230	single nucleotide variant	NM_001364564.1(SALL2):c.991C>T (p.Leu331Phe)	not specified [RCV004279865]	uncertain significance	14	21524731	21524731	Human		name
401722788	CV2703502	single nucleotide variant	NM_001364564.1(SALL2):c.880C>T (p.His294Tyr)	not specified [RCV004317683]	uncertain significance	14	21524842	21524842	Human		name
405076251	CV2873219	single nucleotide variant	NM_001364564.1(SALL2):c.656C>G (p.Ala219Gly)	SALL2-related disorder [RCV003946674]\|not provided [RCV003548764]	likely benign	14	21525066	21525066	Human	1	name , trait , alternate_id
405183966	CV2909823	single nucleotide variant	NM_001364564.1(SALL2):c.493C>A (p.Pro165Thr)	not provided [RCV003564191]	uncertain significance	14	21525229	21525229	Human		name
405222000	CV3056871	single nucleotide variant	NM_001364564.1(SALL2):c.905C>T (p.Pro302Leu)	not provided [RCV003733451]	uncertain significance	14	21524817	21524817	Human		name
405214453	CV3143131	single nucleotide variant	NM_001364564.1(SALL2):c.878G>C (p.Ser293Thr)	not provided [RCV003846294]	uncertain significance	14	21524844	21524844	Human		name
405292055	CV3207866	single nucleotide variant	NM_001364564.1(SALL2):c.641C>T (p.Thr214Met)	SALL2-related disorder [RCV003929541]	likely benign	14	21525081	21525081	Human		name , trait , alternate_id
405721612	CV3310337	single nucleotide variant	NM_001364564.1(SALL2):c.347G>A (p.Gly116Glu)	not specified [RCV004449894]	uncertain significance	14	21525375	21525375	Human		name
405721618	CV3310338	single nucleotide variant	NM_001364564.1(SALL2):c.532C>A (p.Pro178Thr)	not specified [RCV004449895]	uncertain significance	14	21525190	21525190	Human		name
405721625	CV3310339	single nucleotide variant	NM_001364564.1(SALL2):c.553C>T (p.Arg185Trp)	not specified [RCV004449896]	uncertain significance	14	21525169	21525169	Human		name
407469103	CV3483515	single nucleotide variant	NM_001364564.1(SALL2):c.644T>C (p.Val215Ala)	not specified [RCV004661364]	uncertain significance	14	21525078	21525078	Human		name
597735356	CV3594602	single nucleotide variant	NM_001364564.1(SALL2):c.410G>A (p.Gly137Asp)	not specified [RCV004863647]	uncertain significance	14	21525312	21525312	Human		name
597735395	CV3594608	single nucleotide variant	NM_001364564.1(SALL2):c.812C>A (p.Ala271Asp)	not specified [RCV004863653]	uncertain significance	14	21524910	21524910	Human		name
598208225	CV3906468	single nucleotide variant	NM_001364564.1(SALL2):c.971G>A (p.Gly324Glu)	not specified [RCV005270197]	uncertain significance	14	21524751	21524751	Human		name
598208233	CV3906470	single nucleotide variant	NM_001364564.1(SALL2):c.812C>T (p.Ala271Val)	not specified [RCV005270199]	uncertain significance	14	21524910	21524910	Human		name
598208244	CV3906473	single nucleotide variant	NM_001364564.1(SALL2):c.638A>T (p.Gln213Leu)	not specified [RCV005270202]	uncertain significance	14	21525084	21525084	Human		name
598208248	CV3906474	single nucleotide variant	NM_001364564.1(SALL2):c.554G>T (p.Arg185Leu)	not specified [RCV005270203]	uncertain significance	14	21525168	21525168	Human		name
15160775	CV702808	single nucleotide variant	NM_001364564.1(SALL2):c.358T>C (p.Ser120Pro)	not provided [RCV000947552]	benign	14	21525364	21525364	Human		name
15106882	CV714061	single nucleotide variant	NM_001364564.1(SALL2):c.497C>T (p.Pro166Leu)	not provided [RCV000960172]	benign	14	21525225	21525225	Human		name
152035617	CV1670176	single nucleotide variant	NM_001364564.1(SALL2):c.1028C>G (p.Pro343Arg)	not provided [RCV002223710]	uncertain significance	14	21524694	21524694	Human		name
156403600	CV1885843	single nucleotide variant	NM_001364564.1(SALL2):c.2267C>G (p.Pro756Arg)	not provided [RCV003069508]	benign	14	21523455	21523455	Human		name
156330148	CV1954032	single nucleotide variant	NM_001364564.1(SALL2):c.1259G>A (p.Arg420Gln)	not provided [RCV002579951]	uncertain significance	14	21524463	21524463	Human		name
156322916	CV1992351	single nucleotide variant	NM_001364564.1(SALL2):c.2945C>T (p.Pro982Leu)	not provided [RCV002649369]\|not specified [RCV004066599]	uncertain significance	14	21522777	21522777	Human		name
156154511	CV2098645	single nucleotide variant	NM_001364564.1(SALL2):c.2712G>C (p.Glu904Asp)	SALL2-related disorder [RCV003963387]\|not provided [RCV002890767]	benign	14	21523010	21523010	Human	1	name , trait , alternate_id
156333556	CV2112907	single nucleotide variant	NM_001364564.1(SALL2):c.2959T>C (p.Ser987Pro)	SALL2-related disorder [RCV003963444]\|not provided [RCV002938501]	benign\|likely benign	14	21522763	21522763	Human	1	name , trait , alternate_id
156391558	CV2118739	single nucleotide variant	NM_001364564.1(SALL2):c.2263T>C (p.Ser755Pro)	not provided [RCV002943957]	uncertain significance	14	21523459	21523459	Human		name
156004883	CV2126514	single nucleotide variant	NM_001364564.1(SALL2):c.1841C>T (p.Thr614Ile)	not provided [RCV002975357]\|not specified [RCV004068264]	uncertain significance	14	21523881	21523881	Human		name
156240834	CV2177109	single nucleotide variant	NM_001364564.1(SALL2):c.2735A>G (p.Glu912Gly)	not provided [RCV003043437]	uncertain significance	14	21522987	21522987	Human		name
156232051	CV2199708	single nucleotide variant	NM_001364564.1(SALL2):c.2962A>G (p.Ile988Val)	not specified [RCV004072439]	uncertain significance	14	21522760	21522760	Human		name
156071924	CV2201294	single nucleotide variant	NM_001364564.1(SALL2):c.2431G>A (p.Gly811Arg)	not specified [RCV004077428]	uncertain significance	14	21523291	21523291	Human		name
156367250	CV2203490	single nucleotide variant	NM_001364564.1(SALL2):c.1625C>T (p.Thr542Met)	not specified [RCV004072700]	uncertain significance	14	21524097	21524097	Human		name
156237757	CV2206966	single nucleotide variant	NM_001364564.1(SALL2):c.1795C>T (p.Arg599Trp)	not specified [RCV004085587]	uncertain significance	14	21523927	21523927	Human		name
155978453	CV2215032	single nucleotide variant	NM_001364564.1(SALL2):c.2126G>A (p.Arg709Gln)	not specified [RCV004084802]	uncertain significance	14	21523596	21523596	Human		name
156280653	CV2224200	single nucleotide variant	NM_001364564.1(SALL2):c.2712G>T (p.Glu904Asp)	not specified [RCV004096043]	uncertain significance	14	21523010	21523010	Human		name
155943112	CV2244909	single nucleotide variant	NM_001364564.1(SALL2):c.2206G>A (p.Glu736Lys)	not specified [RCV004104660]	uncertain significance	14	21523516	21523516	Human		name
156171638	CV2247460	single nucleotide variant	NM_001364564.1(SALL2):c.1427T>G (p.Val476Gly)	not specified [RCV004108787]	uncertain significance	14	21524295	21524295	Human		name
155968903	CV2262053	single nucleotide variant	NM_001364564.1(SALL2):c.2848C>T (p.Arg950Trp)	not specified [RCV004126530]	uncertain significance	14	21522874	21522874	Human		name
156336218	CV2270637	single nucleotide variant	NM_001364564.1(SALL2):c.2027T>C (p.Phe676Ser)	not specified [RCV004137851]	uncertain significance	14	21523695	21523695	Human		name
156198678	CV2312939	single nucleotide variant	NM_001364564.1(SALL2):c.1458G>T (p.Glu486Asp)	not specified [RCV004159450]	uncertain significance	14	21524264	21524264	Human		name
156275601	CV2351849	single nucleotide variant	NM_001364564.1(SALL2):c.1631C>T (p.Thr544Ile)	not specified [RCV004197993]	uncertain significance	14	21524091	21524091	Human		name
155999451	CV2373418	single nucleotide variant	NM_001364564.1(SALL2):c.2473A>G (p.Ser825Gly)	not specified [RCV004220118]	uncertain significance	14	21523249	21523249	Human		name
156225112	CV2390486	single nucleotide variant	NM_001364564.1(SALL2):c.2441C>T (p.Ala814Val)	not specified [RCV004239025]	uncertain significance	14	21523281	21523281	Human		name
329367472	CV2427426	single nucleotide variant	NM_001364564.1(SALL2):c.1862C>T (p.Ser621Leu)	not specified [RCV004248278]	uncertain significance	14	21523860	21523860	Human		name
329399041	CV2439277	single nucleotide variant	NM_001364564.1(SALL2):c.1121G>A (p.Arg374His)	not specified [RCV004255557]	uncertain significance	14	21524601	21524601	Human		name
329402676	CV2451218	single nucleotide variant	NM_001364564.1(SALL2):c.2017C>T (p.Arg673Cys)	not specified [RCV004270132]	uncertain significance	14	21523705	21523705	Human		name
329397553	CV2463851	single nucleotide variant	NM_001364564.1(SALL2):c.1924C>T (p.Arg642Trp)	not specified [RCV004279931]	uncertain significance	14	21523798	21523798	Human		name
401862660	CV2762309	single nucleotide variant	NM_001364564.1(SALL2):c.1702A>G (p.Thr568Ala)	not specified [RCV004335425]	uncertain significance	14	21524020	21524020	Human		name
401865108	CV2768671	single nucleotide variant	NM_001364564.1(SALL2):c.2264C>T (p.Ser755Leu)	not specified [RCV004344519]	uncertain significance	14	21523458	21523458	Human		name
401888257	CV2788217	single nucleotide variant	NM_001364564.1(SALL2):c.2908C>T (p.His970Tyr)	not specified [RCV004352824]	uncertain significance	14	21522814	21522814	Human		name
405203464	CV2858327	single nucleotide variant	NM_001364564.1(SALL2):c.1799A>G (p.Gln600Arg)	not provided [RCV003551644]	likely benign	14	21523923	21523923	Human		name
405019815	CV2866240	single nucleotide variant	NM_001364564.1(SALL2):c.2108C>T (p.Thr703Ile)	not provided [RCV003577496]	likely benign	14	21523614	21523614	Human		name
405022336	CV2877512	single nucleotide variant	NM_001364564.1(SALL2):c.2165C>T (p.Ala722Val)	not provided [RCV003577711]	likely benign	14	21523557	21523557	Human		name
402490473	CV2948841	single nucleotide variant	NM_001364564.1(SALL2):c.2225G>C (p.Gly742Ala)	not provided [RCV003660401]	uncertain significance	14	21523497	21523497	Human		name
405243124	CV2974878	single nucleotide variant	NM_001364564.1(SALL2):c.2005A>T (p.Arg669Trp)	not provided [RCV003684515]	uncertain significance	14	21523717	21523717	Human		name
402510031	CV3042476	single nucleotide variant	NM_001364564.1(SALL2):c.2852C>A (p.Ala951Asp)	not provided [RCV003715610]	uncertain significance	14	21522870	21522870	Human		name
404988349	CV3131804	single nucleotide variant	NM_001364564.1(SALL2):c.1087C>T (p.Pro363Ser)	not provided [RCV003826932]	uncertain significance	14	21524635	21524635	Human		name
402486109	CV3171272	single nucleotide variant	NM_001364564.1(SALL2):c.2018G>A (p.Arg673His)	not provided [RCV003876299]\|not specified [RCV004858009]	uncertain significance	14	21523704	21523704	Human		name
405254000	CV3174928	single nucleotide variant	NM_001364564.1(SALL2):c.1272G>C (p.Lys424Asn)	not provided [RCV003871380]	uncertain significance	14	21524450	21524450	Human		name
405721513	CV3310324	single nucleotide variant	NM_001364564.1(SALL2):c.1207G>A (p.Val403Ile)	not specified [RCV004449881]	uncertain significance	14	21524515	21524515	Human		name
405721520	CV3310325	single nucleotide variant	NM_001364564.1(SALL2):c.1378G>A (p.Glu460Lys)	not specified [RCV004449882]	uncertain significance	14	21524344	21524344	Human		name
405721527	CV3310326	single nucleotide variant	NM_001364564.1(SALL2):c.1634G>A (p.Arg545His)	not specified [RCV004449883]	uncertain significance	14	21524088	21524088	Human		name
405721536	CV3310327	single nucleotide variant	NM_001364564.1(SALL2):c.1638G>A (p.Met546Ile)	not specified [RCV004449884]	uncertain significance	14	21524084	21524084	Human		name
405721545	CV3310328	single nucleotide variant	NM_001364564.1(SALL2):c.1811C>T (p.Ala604Val)	not specified [RCV004449885]	uncertain significance	14	21523911	21523911	Human		name
405721552	CV3310329	single nucleotide variant	NM_001364564.1(SALL2):c.1907G>A (p.Arg636Gln)	not specified [RCV004449886]	uncertain significance	14	21523815	21523815	Human		name
405721567	CV3310331	single nucleotide variant	NM_001364564.1(SALL2):c.1933C>T (p.Arg645Cys)	not specified [RCV004449888]	uncertain significance	14	21523789	21523789	Human		name
405721582	CV3310333	single nucleotide variant	NM_001364564.1(SALL2):c.2159G>T (p.Gly720Val)	not specified [RCV004449890]	uncertain significance	14	21523563	21523563	Human		name
405721602	CV3310336	single nucleotide variant	NM_001364564.1(SALL2):c.2984C>A (p.Pro995His)	not specified [RCV004449893]	uncertain significance	14	21522738	21522738	Human		name
407469091	CV3483509	single nucleotide variant	NM_001364564.1(SALL2):c.1381G>A (p.Glu461Lys)	not specified [RCV004661360]	uncertain significance	14	21524341	21524341	Human		name
407469094	CV3483511	single nucleotide variant	NM_001364564.1(SALL2):c.2807C>T (p.Pro936Leu)	not provided [RCV005103426]\|not specified [RCV004661361]	uncertain significance	14	21522915	21522915	Human		name
407469097	CV3483512	single nucleotide variant	NM_001364564.1(SALL2):c.1796G>A (p.Arg599Gln)	not specified [RCV004661362]	uncertain significance	14	21523926	21523926	Human		name
407514190	CV3483513	single nucleotide variant	NM_001364564.1(SALL2):c.2224G>A (p.Gly742Arg)	not specified [RCV004674444]	uncertain significance	14	21523498	21523498	Human		name
407469100	CV3483514	single nucleotide variant	NM_001364564.1(SALL2):c.2294A>G (p.Glu765Gly)	not specified [RCV004661363]	uncertain significance	14	21523428	21523428	Human		name
407469108	CV3483517	single nucleotide variant	NM_001364564.1(SALL2):c.2621C>T (p.Ala874Val)	not specified [RCV004661366]	uncertain significance	14	21523101	21523101	Human		name
407469112	CV3483518	single nucleotide variant	NM_001364564.1(SALL2):c.2891T>A (p.Val964Glu)	not specified [RCV004661367]	uncertain significance	14	21522831	21522831	Human		name
597735319	CV3594596	single nucleotide variant	NM_001364564.1(SALL2):c.1934G>A (p.Arg645His)	not specified [RCV004863641]	uncertain significance	14	21523788	21523788	Human		name
597735325	CV3594597	single nucleotide variant	NM_001364564.1(SALL2):c.2057G>A (p.Arg686Gln)	not specified [RCV004863642]	uncertain significance	14	21523665	21523665	Human		name
597735331	CV3594598	single nucleotide variant	NM_001364564.1(SALL2):c.2734G>A (p.Glu912Lys)	not specified [RCV004863643]	uncertain significance	14	21522988	21522988	Human		name
597735350	CV3594601	single nucleotide variant	NM_001364564.1(SALL2):c.2566G>T (p.Gly856Cys)	not specified [RCV004863646]	uncertain significance	14	21523156	21523156	Human		name
597735363	CV3594603	single nucleotide variant	NM_001364564.1(SALL2):c.2806C>A (p.Pro936Thr)	not specified [RCV004863648]	uncertain significance	14	21522916	21522916	Human		name
597735376	CV3594605	single nucleotide variant	NM_001364564.1(SALL2):c.2633C>G (p.Thr878Ser)	not specified [RCV004863650]	uncertain significance	14	21523089	21523089	Human		name
597735382	CV3594606	single nucleotide variant	NM_001364564.1(SALL2):c.2639A>G (p.Glu880Gly)	not specified [RCV004863651]	uncertain significance	14	21523083	21523083	Human		name
597735389	CV3594607	single nucleotide variant	NM_001364564.1(SALL2):c.2434A>T (p.Thr812Ser)	not specified [RCV004863652]	uncertain significance	14	21523288	21523288	Human		name
597735408	CV3594610	single nucleotide variant	NM_001364564.1(SALL2):c.2911G>A (p.Gly971Ser)	not specified [RCV004863655]	uncertain significance	14	21522811	21522811	Human		name
597735415	CV3594611	single nucleotide variant	NM_001364564.1(SALL2):c.2327C>G (p.Thr776Ser)	not specified [RCV004863656]	uncertain significance	14	21523395	21523395	Human		name
597735421	CV3594612	single nucleotide variant	NM_001364564.1(SALL2):c.1415G>C (p.Arg472Pro)	not specified [RCV004863657]	uncertain significance	14	21524307	21524307	Human		name
597735427	CV3594613	single nucleotide variant	NM_001364564.1(SALL2):c.1543G>A (p.Val515Met)	not specified [RCV004863658]	uncertain significance	14	21524179	21524179	Human		name
597735434	CV3594614	single nucleotide variant	NM_001364564.1(SALL2):c.2171C>T (p.Pro724Leu)	not specified [RCV004863659]	uncertain significance	14	21523551	21523551	Human		name
597951038	CV3847087	single nucleotide variant	NM_001364564.1(SALL2):c.1415G>A (p.Arg472His)	not provided [RCV005190259]	uncertain significance	14	21524307	21524307	Human		name
597882933	CV3857646	single nucleotide variant	NM_001364564.1(SALL2):c.2968T>A (p.Ser990Thr)	not provided [RCV005199273]	uncertain significance	14	21522754	21522754	Human		name
597866135	CV3857754	single nucleotide variant	NM_001364564.1(SALL2):c.2861A>G (p.Lys954Arg)	not provided [RCV005196701]	uncertain significance	14	21522861	21522861	Human		name
598208215	CV3906465	single nucleotide variant	NM_001364564.1(SALL2):c.2501C>T (p.Ser834Phe)	not specified [RCV005270194]	uncertain significance	14	21523221	21523221	Human		name
598208221	CV3906467	single nucleotide variant	NM_001364564.1(SALL2):c.2117A>G (p.Gln706Arg)	not specified [RCV005270196]	uncertain significance	14	21523605	21523605	Human		name
598208229	CV3906469	single nucleotide variant	NM_001364564.1(SALL2):c.2293G>A (p.Glu765Lys)	not specified [RCV005270198]	uncertain significance	14	21523429	21523429	Human		name
598208236	CV3906471	single nucleotide variant	NM_001364564.1(SALL2):c.1514C>T (p.Ala505Val)	not specified [RCV005270200]	uncertain significance	14	21524208	21524208	Human		name
598208240	CV3906472	single nucleotide variant	NM_001364564.1(SALL2):c.1922C>T (p.Pro641Leu)	not specified [RCV005270201]	uncertain significance	14	21523800	21523800	Human		name
15163824	CV702807	single nucleotide variant	NM_001364564.1(SALL2):c.2230C>G (p.Arg744Gly)	not provided [RCV000948185]	benign	14	21523492	21523492	Human		name
15139255	CV714058	single nucleotide variant	NM_001364564.1(SALL2):c.2513C>G (p.Pro838Arg)	SALL2-related disorder [RCV004757348]\|not provided [RCV000965933]	benign	14	21523209	21523209	Human	1	name , trait , alternate_id
15162402	CV725614	single nucleotide variant	NM_001364564.1(SALL2):c.1459A>G (p.Ser487Gly)	not provided [RCV000881750]	benign	14	21524263	21524263	Human		name
15107298	CV753975	single nucleotide variant	NM_001364564.1(SALL2):c.2507C>T (p.Pro836Leu)	SALL2-related disorder [RCV003933044]\|not provided [RCV000915926]	benign	14	21523215	21523215	Human	1	name , trait , alternate_id
597948422	CV3800956	microsatellite	NM_001364564.1(SALL2):c.2286GGA[2] (p.Glu767del)	not provided [RCV005135356]	uncertain significance	14	21523428	21523430	Human		name
243064117	CV2410895	microsatellite	NM_001364564.1(SALL2):c.2286GGA[1] (p.Glu766_Glu767del)	Coloboma, ocular, autosomal recessive [RCV003142734]	uncertain significance	14	21523428	21523433	Human		name
405216876	CV3055582	microsatellite	NM_001364564.1(SALL2):c.777CTCTTC[1] (p.Ser262_Ser263del)	not provided [RCV003732661]	uncertain significance	14	21524934	21524939	Human		name
597877735	CV3763172	deletion	NM_001364564.1(SALL2):c.2313_2321del (p.Glu771_Glu773del)	not provided [RCV005108767]	uncertain significance	14	21523401	21523409	Human		name
597852841	CV3758613	microsatellite	NM_001364564.1(SALL2):c.765CTC[7] (p.Ser263_Gly264insSerSer)	not provided [RCV005088174]	uncertain significance	14	21524942	21524943	Human		name

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