Sall1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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663 records found for search term Sall1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8559917	CV22476	deletion	SALL1, 2-BP DEL, 3414AT	Townes-Brocks syndrome 1 [RCV000007863]	pathogenic				Human		name
405271026	CV3218847	single nucleotide variant	NM_002968.3(SALL1):c.*9G>A	SALL1-related disorder [RCV003971600]	likely benign	16	51137103	51137103	Human		name , trait , alternate_id
11613165	CV335261	single nucleotide variant	NM_002968.2(SALL1):c.*45C>A	Townes-Brocks syndrome 1 [RCV000266009]	uncertain significance	16	51137067	51137067	Human		name
8584873	CV119450	single nucleotide variant	NM_002968.2(SALL1):c.*714A>G	Lung cancer [RCV000099970]	uncertain significance	16	51136398	51136398	Human		name
156239276	CV2183913	single nucleotide variant	NM_002968.3(SALL1):c.77-5T>A	Townes syndrome [RCV003059598]	likely benign	16	51142150	51142150	Human	1	name
405059541	CV2907493	single nucleotide variant	NM_002968.3(SALL1):c.76+5G>A	Townes syndrome [RCV003593594]	pathogenic	16	51151161	51151161	Human	1	name
11615578	CV335249	single nucleotide variant	NM_002968.2(SALL1):c.*922T>G	Townes-Brocks syndrome 1 [RCV000287374]	likely benign	16	51136190	51136190	Human		name
11656661	CV335251	single nucleotide variant	NM_002968.2(SALL1):c.*904C>T	Townes-Brocks syndrome 1 [RCV000335422]	uncertain significance	16	51136208	51136208	Human		name
11618235	CV335255	deletion	NM_002968.3(SALL1):c.*588del	Townes-Brocks syndrome 1 [RCV000312169]	benign	16	51136524	51136524	Human	1	name
11658632	CV335258	deletion	NM_002968.3(SALL1):c.*563del	Townes-Brocks syndrome 1 [RCV000350691]	uncertain significance	16	51136549	51136549	Human	1	name
11613814	CV335260	single nucleotide variant	NM_002968.2(SALL1):c.*192T>C	Townes-Brocks syndrome 1 [RCV000271928]	likely benign	16	51136920	51136920	Human		name
11619189	CV341729	single nucleotide variant	NM_002968.2(SALL1):c.*997C>A	Townes-Brocks syndrome 1 [RCV000322324]	benign	16	51136115	51136115	Human	19	name
11619189	CV341729	single nucleotide variant	NM_002968.2(SALL1):c.*997C>A	Townes-Brocks syndrome 1 [RCV000322324]	benign	16	51136115	51136116	Human	19	name
11661117	CV341739	single nucleotide variant	NM_002968.2(SALL1):c.*865A>C	Townes-Brocks syndrome 1 [RCV000373606]	uncertain significance	16	51136247	51136247	Human		name
11620502	CV341741	single nucleotide variant	NM_002968.2(SALL1):c.*646C>T	Townes-Brocks syndrome 1 [RCV000337827]	likely benign	16	51136466	51136466	Human		name
11635805	CV341744	single nucleotide variant	NM_002968.2(SALL1):c.*592G>A	Townes-Brocks syndrome 1 [RCV000398604]	uncertain significance	16	51136520	51136520	Human		name
11617726	CV341745	single nucleotide variant	NM_002968.2(SALL1):c.*550G>T	Townes-Brocks syndrome 1 [RCV000307202]	likely benign	16	51136562	51136562	Human		name
11635872	CV343239	single nucleotide variant	NM_002968.2(SALL1):c.*558A>G	Townes-Brocks syndrome 1 [RCV000408040]	uncertain significance	16	51136554	51136554	Human		name
11622743	CV343241	single nucleotide variant	NM_002968.2(SALL1):c.*437C>A	Townes-Brocks syndrome 1 [RCV000364171]	likely benign	16	51136675	51136675	Human		name
11653346	CV343242	single nucleotide variant	NM_002968.2(SALL1):c.*125C>T	Townes-Brocks syndrome 1 [RCV000310540]	uncertain significance	16	51136987	51136987	Human		name
150506990	CV1211062	single nucleotide variant	NM_002968.3(SALL1):c.77-54G>A	not provided [RCV001596180]	likely benign	16	51142199	51142199	Human		name
150511508	CV1212763	single nucleotide variant	NM_002968.3(SALL1):c.77-91A>G	not provided [RCV001597995]	benign	16	51142236	51142236	Human		name
156357137	CV2126148	single nucleotide variant	NM_002968.3(SALL1):c.76+15C>A	Townes syndrome [RCV002966740]	likely benign	16	51151151	51151151	Human	1	name
11635727	CV335246	duplication	NM_002968.3(SALL1):c.*1033dup	Townes-Brocks syndrome 1 [RCV000385156]	uncertain significance	16	51136078	51136079	Human	1	name
11635274	CV341726	duplication	NM_002968.3(SALL1):c.*1112dup	Townes-Brocks syndrome 1 [RCV000327970]	likely benign	16	51135999	51136000	Human	1	name
11634623	CV341728	single nucleotide variant	NM_002968.2(SALL1):c.*1016T>C	Townes-Brocks syndrome 1 [RCV000264916]	uncertain significance	16	51136096	51136096	Human		name
150462793	CV1263711	single nucleotide variant	NM_002968.3(SALL1):c.76+187C>T	not provided [RCV001682412]	benign	16	51150979	51150979	Human		name
12843418	CV377614	single nucleotide variant	NM_002968.3(SALL1):c.3534+5C>T	not specified [RCV000436189]	likely benign	16	51138683	51138683	Human		name
616938766	CV4015821	single nucleotide variant	NM_002968.3(SALL1):c.3534+2T>C	Townes-Brocks syndrome 1 [RCV005414373]	likely pathogenic	16	51138686	51138686	Human	1	name
150514991	CV1217343	single nucleotide variant	NM_002968.3(SALL1):c.3534+40C>G	not provided [RCV001608247]	benign	16	51138648	51138648	Human		name
329352231	CV2476639	single nucleotide variant	NM_002968.3(SALL1):c.3534+25C>T	not provided [RCV003222871]	benign\|likely benign	16	51138663	51138663	Human		name
11545036	CV255804	microsatellite	NM_002968.3(SALL1):c.76+26AC[5]	not provided [RCV001610634]\|not specified [RCV000244594]	benign\|likely benign	16	51151129	51151130	Human		name
11623950	CV341737	microsatellite	NM_002968.3(SALL1):c.*920CTT[2]	Townes-Brocks syndrome 1 [RCV000379240]\|not provided [RCV002510851]	benign\|likely benign\|uncertain significance	16	51136184	51136186	Human		name
150335077	CV1172850	single nucleotide variant	NM_002968.3(SALL1):c.3535-152C>G	not provided [RCV001540391]	likely benign	16	51137704	51137704	Human		name
150501110	CV1238318	microsatellite	NM_002968.3(SALL1):c.*83GCCCC[3]	not provided [RCV001656748]	benign	16	51137019	51137020	Human		name
150485935	CV1262196	single nucleotide variant	NM_002968.3(SALL1):c.3534+274G>C	not provided [RCV001686887]	benign	16	51138414	51138414	Human		name
11622258	CV325616	microsatellite	NM_002968.3(SALL1):c.*83GCCCC[1]	Townes-Brocks syndrome 1 [RCV000358349]\|not provided [RCV001564068]	likely benign	16	51137020	51137024	Human		name
14705906	CV668339	single nucleotide variant	NM_002968.3(SALL1):c.3535-207G>A	not provided [RCV000826350]	benign	16	51137759	51137759	Human	6	name
14705906	CV668339	single nucleotide variant	NM_002968.3(SALL1):c.3535-207G>A	not provided [RCV000826350]	benign	16	51137759	51137760	Human	6	name
11547254	CV255787	microsatellite	NM_002968.3(SALL1):c.3535-44CT[6]	not provided [RCV001610633]\|not specified [RCV000247523]	benign\|likely benign	16	51137583	51137584	Human		name
11648351	CV343237	deletion	NM_002968.3(SALL1):c.705_706del	Townes-Brocks syndrome 1 [RCV000281493]	uncertain significance	16	51136406	51136407	Human	1	name
150478560	CV1281996	deletion	NM_002968.3(SALL1):c.76+68_76+69del	not provided [RCV001714315]	benign	16	51151097	51151098	Human		name
156002769	CV2119103	single nucleotide variant	NM_002968.3(SALL1):c.9G>A (p.Arg3=)	Townes syndrome [RCV002975262]	likely benign	16	51151233	51151233	Human	1	name
405287280	CV3210587	single nucleotide variant	NM_002968.3(SALL1):c.24G>A (p.Lys8=)	SALL1-related disorder [RCV003924362]	likely benign	16	51151218	51151218	Human		name , trait , alternate_id
150446868	CV1232166	single nucleotide variant	NM_002968.3(SALL1):c.39A>G (p.Gln13=)	Townes syndrome [RCV002072990]\|not provided [RCV001646074]	benign	16	51151203	51151203	Human	1	name
152070698	CV1630518	single nucleotide variant	NM_002968.3(SALL1):c.63C>T (p.Leu21=)	SALL1-related disorder [RCV003895808]\|Townes syndrome [RCV002129582]\|not provided [RCV004704754]	likely benign	16	51151179	51151179	Human	1	name , trait , alternate_id
405186888	CV3048574	single nucleotide variant	NM_002968.3(SALL1):c.45C>T (p.Asp15=)	Townes syndrome [RCV003760211]	likely benign	16	51151197	51151197	Human	1	name
597956298	CV3787321	single nucleotide variant	NM_002968.3(SALL1):c.72A>C (p.Arg24=)	Townes syndrome [RCV005122206]	likely benign	16	51151170	51151170	Human	1	name
597950616	CV3846969	single nucleotide variant	NM_002968.3(SALL1):c.99G>A (p.Pro33=)	Townes syndrome [RCV005190140]	likely benign	16	51142123	51142123	Human	1	name
598126189	CV3886124	single nucleotide variant	NM_002968.3(SALL1):c.5C>G (p.Ser2Trp)	not provided [RCV005241927]	uncertain significance	16	51151237	51151237	Human		name
150476232	CV1271305	single nucleotide variant	NM_002968.3(SALL1):c.219C>T (p.Ile73=)	Townes syndrome [RCV002539686]\|Townes-Brocks syndrome 1 [RCV002503150]\|not provided [RCV001696128]	benign\|likely benign	16	51142003	51142003	Human	1	name
155932018	CV1919544	single nucleotide variant	NM_002968.3(SALL1):c.246C>T (p.Pro82=)	Townes syndrome [RCV002615047]	likely benign	16	51141976	51141976	Human	1	name
329351066	CV2477895	single nucleotide variant	NM_002968.3(SALL1):c.26C>G (p.Pro9Arg)	not provided [RCV003224008]	uncertain significance	16	51151216	51151216	Human		name
11551345	CV255803	single nucleotide variant	NM_002968.3(SALL1):c.129C>T (p.His43=)	Townes syndrome [RCV002518623]\|not provided [RCV001711692]\|not specified [RCV000252927]	benign\|likely benign	16	51142093	51142093	Human	1	name
401934481	CV2807944	single nucleotide variant	NM_002968.3(SALL1):c.120G>A (p.Lys40=)	not provided [RCV003411350]	likely benign	16	51142102	51142102	Human		name
405082429	CV2893509	single nucleotide variant	NM_002968.3(SALL1):c.243A>C (p.Pro81=)	Townes syndrome [RCV003595521]	likely benign	16	51141979	51141979	Human	1	name
405255732	CV3210837	single nucleotide variant	NM_002968.3(SALL1):c.270T>A (p.Pro90=)	SALL1-related disorder [RCV003939344]	likely benign	16	51141952	51141952	Human		name , trait , alternate_id
597924340	CV3863084	single nucleotide variant	NM_002968.3(SALL1):c.183C>T (p.His61=)	Townes syndrome [RCV005205572]	likely benign	16	51142039	51142039	Human	1	name
13617403	CV530183	single nucleotide variant	NM_002968.3(SALL1):c.264C>T (p.Ser88=)	Townes syndrome [RCV000634157]\|Townes-Brocks syndrome 1 [RCV002507068]\|not provided [RCV001672902]	benign\|likely benign	16	51141958	51141958	Human	1	name
13833690	CV584928	single nucleotide variant	NM_002968.3(SALL1):c.175C>T (p.Leu59=)	not provided [RCV000729023]	uncertain significance	16	51142047	51142047	Human		name
126909438	CV1036693	duplication	NM_002968.3(SALL1):c.269dup (p.Pro91fs)	Townes-Brocks syndrome 1 [RCV001353177]	likely pathogenic	16	51141952	51141953	Human	1	name
150426193	CV1185115	single nucleotide variant	NM_002968.3(SALL1):c.939G>T (p.Val313=)	SALL1-related disorder [RCV004752010]\|not provided [RCV001559038]	likely benign	16	51141283	51141283	Human	1	name , trait , alternate_id
152141571	CV1583345	single nucleotide variant	NM_002968.3(SALL1):c.618G>A (p.Ala206=)	Townes syndrome [RCV002120446]\|Townes-Brocks syndrome 1 [RCV002500181]	likely benign	16	51141604	51141604	Human	1	name
152063854	CV1644864	single nucleotide variant	NM_002968.3(SALL1):c.471C>T (p.Ser157=)	Townes syndrome [RCV002147129]	likely benign	16	51141751	51141751	Human	1	name
156021925	CV1911590	single nucleotide variant	NM_002968.3(SALL1):c.567C>G (p.Ser189=)	Townes syndrome [RCV002636749]	likely benign	16	51141655	51141655	Human	1	name
156344772	CV1970452	single nucleotide variant	NM_002968.3(SALL1):c.61C>A (p.Leu21Ile)	Townes syndrome [RCV002601470]	uncertain significance	16	51151181	51151181	Human	1	name
156214964	CV2085240	single nucleotide variant	NM_002968.3(SALL1):c.663G>C (p.Gly221=)	Townes syndrome [RCV002893952]	likely benign	16	51141559	51141559	Human	1	name
156281773	CV2186886	single nucleotide variant	NM_002968.3(SALL1):c.801T>C (p.Ser267=)	SALL1-related disorder [RCV003898711]\|Townes syndrome [RCV003044802]	likely benign	16	51141421	51141421	Human	1	name , trait , alternate_id
329350071	CV2477264	single nucleotide variant	NM_002968.3(SALL1):c.38A>C (p.Gln13Pro)	not provided [RCV003221589]	uncertain significance	16	51151204	51151204	Human		name
11550618	CV255801	single nucleotide variant	NM_002968.3(SALL1):c.390G>A (p.Pro130=)	Townes syndrome [RCV001087416]\|not provided [RCV000634154]\|not specified [RCV000251993]	benign\|likely benign	16	51141832	51141832	Human	1	name
405059831	CV2897401	single nucleotide variant	NM_002968.3(SALL1):c.648C>T (p.Cys216=)	Townes syndrome [RCV003593616]	likely benign	16	51141574	51141574	Human	1	name
405068735	CV2932275	single nucleotide variant	NM_002968.3(SALL1):c.651C>T (p.Gly217=)	Townes syndrome [RCV003594505]	likely benign	16	51141571	51141571	Human	1	name
405190923	CV2970361	single nucleotide variant	NM_002968.3(SALL1):c.549A>G (p.Thr183=)	Townes syndrome [RCV003760696]	likely benign	16	51141673	51141673	Human	1	name
405179146	CV3007654	single nucleotide variant	NM_002968.3(SALL1):c.71G>T (p.Arg24Leu)	Townes syndrome [RCV003759194]	uncertain significance	16	51151171	51151171	Human	1	name
405182437	CV3041681	single nucleotide variant	NM_002968.3(SALL1):c.819T>A (p.Gly273=)	Townes syndrome [RCV003759516]\|not specified [RCV004801383]	likely benign	16	51141403	51141403	Human	1	name
405259770	CV3195223	deletion	NM_002968.3(SALL1):c.242del (p.Pro81fs)	SALL1-related disorder [RCV003894418]	likely pathogenic	16	51141980	51141980	Human		name , trait , alternate_id
405294784	CV3211856	single nucleotide variant	NM_002968.3(SALL1):c.639A>G (p.Glu213=)	SALL1-related disorder [RCV003934681]	likely benign	16	51141583	51141583	Human		name , trait , alternate_id
11614914	CV325638	single nucleotide variant	NM_002968.3(SALL1):c.351C>T (p.Asn117=)	Townes syndrome [RCV000877917]\|Townes-Brocks syndrome 1 [RCV002504090]\|not provided [RCV001590950]	likely benign\|uncertain significance	16	51141871	51141871	Human	1	name
405852278	CV3395871	deletion	NM_002968.3(SALL1):c.252del (p.Phe85fs)	Townes-Brocks syndrome 1 [RCV004556890]	likely pathogenic	16	51141970	51141970	Human	1	name
11616891	CV341759	single nucleotide variant	NM_002968.3(SALL1):c.537C>T (p.Leu179=)	Townes syndrome [RCV002056497]\|Townes-Brocks syndrome 1 [RCV002495011]\|not provided [RCV000878015]	benign\|likely benign	16	51141685	51141685	Human	1	name
11658308	CV341772	single nucleotide variant	NM_002968.3(SALL1):c.43G>A (p.Asp15Asn)	Townes-Brocks syndrome 1 [RCV000347818]	uncertain significance	16	51151199	51151199	Human	1	name
11615209	CV343258	single nucleotide variant	NM_002968.3(SALL1):c.44A>C (p.Asp15Ala)	SALL1-related disorder [RCV003418893]	uncertain significance	16	51151198	51151198	Human		name , trait , alternate_id
407501509	CV3495605	single nucleotide variant	NM_002968.3(SALL1):c.591C>T (p.Ile197=)	not provided [RCV004697445]	uncertain significance	16	51141631	51141631	Human		name
408393139	CV3525474	single nucleotide variant	NM_002968.3(SALL1):c.98C>T (p.Pro33Leu)	not provided [RCV004771360]	uncertain significance	16	51142124	51142124	Human		name
597939477	CV3788548	single nucleotide variant	NM_002968.3(SALL1):c.825A>G (p.Leu275=)	Townes syndrome [RCV005133223]	likely benign	16	51141397	51141397	Human	1	name
597944953	CV3812852	single nucleotide variant	NM_002968.3(SALL1):c.495C>T (p.Ser165=)	Townes syndrome [RCV005159865]	likely benign	16	51141727	51141727	Human	1	name
13501881	CV465774	single nucleotide variant	NM_002968.3(SALL1):c.855A>G (p.Leu285=)	Townes syndrome [RCV001493893]	likely benign	16	51141367	51141367	Human	1	name
13537123	CV505655	single nucleotide variant	NM_002968.3(SALL1):c.387C>T (p.Ala129=)	Townes syndrome [RCV002064380]\|Townes-Brocks syndrome 1 [RCV002491295]\|not provided [RCV003420068]\|not specified [RCV000609960]	likely benign	16	51141835	51141835	Human	1	name
13837849	CV589142	single nucleotide variant	NM_002968.3(SALL1):c.411C>T (p.Ser137=)	Townes syndrome [RCV001521920]\|not provided [RCV000734381]\|not specified [RCV001816807]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51141811	51141811	Human	1	name
8627835	CV82979	single nucleotide variant	NM_002968.2(SALL1):c.624C>T (p.Ala208=)	Malignant melanoma [RCV000063059]	not provided	16	51141598	51141598	Human		name
127269492	CV1063653	duplication	NM_002968.3(SALL1):c.870dup (p.Gln291fs)	Townes syndrome [RCV001389539]	pathogenic	16	51141351	51141352	Human	1	name
127247307	CV1082088	single nucleotide variant	NM_002968.3(SALL1):c.2181A>G (p.Thr727=)	Townes syndrome [RCV001399114]	likely benign	16	51140041	51140041	Human	1	name
150333481	CV1169676	single nucleotide variant	NM_002968.3(SALL1):c.104G>A (p.Arg35His)	not provided [RCV001537357]	uncertain significance	16	51142118	51142118	Human		name
150427715	CV1188368	single nucleotide variant	NM_002968.3(SALL1):c.1872C>T (p.Ser624=)	not provided [RCV001561295]	likely benign	16	51140350	51140350	Human		name
150412641	CV1191811	single nucleotide variant	NM_002968.3(SALL1):c.1326C>T (p.Ser442=)	not provided [RCV001566978]	likely benign	16	51140896	51140896	Human		name
150442850	CV1204774	single nucleotide variant	NM_002968.3(SALL1):c.2259C>T (p.Tyr753=)	Townes syndrome [RCV005094834]\|Townes-Brocks syndrome 1 [RCV002495943]\|not provided [RCV001583881]	likely benign	16	51139963	51139963	Human	1	name
150499077	CV1254300	single nucleotide variant	NM_002968.3(SALL1):c.2331C>T (p.Asn777=)	Townes syndrome [RCV002073181]\|Townes-Brocks syndrome 1 [RCV002496001]\|not provided [RCV001676474]	benign\|likely benign	16	51139891	51139891	Human	1	name
151745947	CV1433017	single nucleotide variant	NM_002968.3(SALL1):c.1227C>T (p.Ile409=)	Townes syndrome [RCV001985727]\|Townes-Brocks syndrome 1 [RCV002479599]	likely benign	16	51140995	51140995	Human	1	name
151870686	CV1477008	single nucleotide variant	NM_002968.3(SALL1):c.268C>T (p.Pro90Ser)	Townes syndrome [RCV001925167]	uncertain significance	16	51141954	51141954	Human	1	name
151886963	CV1495987	deletion	NM_002968.3(SALL1):c.691del (p.Glu231fs)	Townes syndrome [RCV001887670]	pathogenic	16	51141531	51141531	Human	1	name
152067624	CV1566903	single nucleotide variant	NM_002968.3(SALL1):c.2565T>G (p.Pro855=)	SALL1-related disorder [RCV003893257]\|Townes syndrome [RCV002091144]\|Townes-Brocks syndrome 1 [RCV002498323]	likely benign	16	51139657	51139657	Human	1	name , trait , alternate_id
152116555	CV1645717	single nucleotide variant	NM_002968.3(SALL1):c.1854A>G (p.Pro618=)	Townes syndrome [RCV002175006]	likely benign	16	51140368	51140368	Human	1	name
152109014	CV1648410	single nucleotide variant	NM_002968.3(SALL1):c.1953C>T (p.Pro651=)	SALL1-related disorder [RCV003958843]\|Townes syndrome [RCV002116301]\|Townes-Brocks syndrome 1 [RCV002508076]	likely benign	16	51140269	51140269	Human	1	name , trait , alternate_id
152042327	CV1669989	single nucleotide variant	NM_002968.3(SALL1):c.1665C>T (p.Val555=)	Townes syndrome [RCV003089189]\|not provided [RCV002224891]	likely benign\|uncertain significance	16	51140557	51140557	Human	1	name
156195984	CV1889624	single nucleotide variant	NM_002968.3(SALL1):c.2070G>A (p.Lys690=)	Townes syndrome [RCV003084035]	likely benign	16	51140152	51140152	Human	1	name
156257406	CV1905491	single nucleotide variant	NM_002968.3(SALL1):c.1030T>C (p.Leu344=)	Townes syndrome [RCV003086321]	likely benign	16	51141192	51141192	Human	1	name
10050717	CV192350	single nucleotide variant	NM_002968.3(SALL1):c.2283G>C (p.Pro761=)	Townes-Brocks syndrome 1 [RCV002478568]\|not provided [RCV000175744]	uncertain significance	16	51139939	51139939	Human	1	name
156437314	CV1937451	single nucleotide variant	NM_002968.3(SALL1):c.2742T>C (p.Ala914=)	Townes syndrome [RCV003106846]	likely benign	16	51139480	51139480	Human	1	name
156189884	CV2016952	single nucleotide variant	NM_002968.3(SALL1):c.1350G>A (p.Lys450=)	Townes syndrome [RCV002711051]	likely benign	16	51140872	51140872	Human	1	name
156119480	CV2077617	single nucleotide variant	NM_002968.3(SALL1):c.2793G>A (p.Pro931=)	SALL1-related disorder [RCV004750778]\|Townes syndrome [RCV002871205]	likely benign	16	51139429	51139429	Human	1	name , trait , alternate_id
155980732	CV2101783	single nucleotide variant	NM_002968.3(SALL1):c.1566G>A (p.Thr522=)	Townes syndrome [RCV002907694]	likely benign	16	51140656	51140656	Human	1	name
155921297	CV2102418	single nucleotide variant	NM_002968.3(SALL1):c.109A>T (p.Thr37Ser)	Townes syndrome [RCV002903366]	uncertain significance	16	51142113	51142113	Human	1	name
156236008	CV2105046	single nucleotide variant	NM_002968.3(SALL1):c.2643A>G (p.Leu881=)	Townes syndrome [RCV002919118]	likely benign	16	51139579	51139579	Human	1	name
156127078	CV2124952	single nucleotide variant	NM_002968.3(SALL1):c.2589C>T (p.Ile863=)	Townes syndrome [RCV002953731]	likely benign	16	51139633	51139633	Human	1	name
156007872	CV2126681	single nucleotide variant	NM_002968.3(SALL1):c.2460C>T (p.Asp820=)	Townes syndrome [RCV002975487]	likely benign	16	51139762	51139762	Human	1	name
156136732	CV2141157	single nucleotide variant	NM_002968.3(SALL1):c.2436C>A (p.Ser812=)	Townes syndrome [RCV002982163]	likely benign	16	51139786	51139786	Human	1	name
156262597	CV2143419	single nucleotide variant	NM_002968.3(SALL1):c.2343G>A (p.Leu781=)	Townes syndrome [RCV003008978]	benign	16	51139879	51139879	Human	1	name
156171815	CV2166063	single nucleotide variant	NM_002968.3(SALL1):c.2046A>G (p.Ser682=)	Townes syndrome [RCV003023536]	likely benign	16	51140176	51140176	Human	1	name
8559916	CV22475	deletion	NM_002968.3(SALL1):c.995del (p.Pro332fs)	Townes-Brocks syndrome 1 [RCV000007862]	pathogenic	16	51141227	51141227	Human	1	name
12791326	CV226089	single nucleotide variant	NM_002968.3(SALL1):c.130G>A (p.Val44Ile)	Townes-Brocks syndrome 1 [RCV000416591]\|not provided [RCV001557042]	likely benign\|uncertain significance	16	51142092	51142092	Human	1	name
11350713	CV237343	single nucleotide variant	NM_002968.3(SALL1):c.292A>G (p.Met98Val)	Townes syndrome [RCV001088967]\|not provided [RCV000224272]\|not specified [RCV000246370]	benign	16	51141930	51141930	Human	1	name
243052644	CV2404430	single nucleotide variant	NM_002968.3(SALL1):c.1230A>C (p.Gly410=)	not provided [RCV003129456]	likely benign	16	51140992	51140992	Human		name
243064116	CV2410894	single nucleotide variant	NM_002968.3(SALL1):c.104G>T (p.Arg35Leu)	Townes-Brocks syndrome 1 [RCV003142733]	uncertain significance	16	51142118	51142118	Human	1	name
11549556	CV255789	single nucleotide variant	NM_002968.3(SALL1):c.2967C>T (p.Leu989=)	not specified [RCV000250570]	likely benign	16	51139255	51139255	Human		name
11543837	CV255790	single nucleotide variant	NM_002968.3(SALL1):c.2574C>T (p.Leu858=)	Townes syndrome [RCV001520814]\|Townes-Brocks syndrome 1 [RCV000391169]\|not provided [RCV001610632]\|not specified [RCV000242992]	benign	16	51139648	51139648	Human	8	name
11543837	CV255790	single nucleotide variant	NM_002968.3(SALL1):c.2574C>T (p.Leu858=)	Townes syndrome [RCV001520814]\|Townes-Brocks syndrome 1 [RCV000391169]\|not provided [RCV001610632]\|not specified [RCV000242992]	benign	16	51139648	51139649	Human	8	name
11549879	CV255791	single nucleotide variant	NM_002968.3(SALL1):c.2544A>G (p.Gln848=)	Townes syndrome [RCV001088388]\|not provided [RCV000525845]\|not specified [RCV000250989]	benign\|likely benign	16	51139678	51139678	Human	1	name
11546118	CV255792	single nucleotide variant	NM_002968.3(SALL1):c.2343G>C (p.Leu781=)	Townes syndrome [RCV000549967]\|not provided [RCV000712996]\|not specified [RCV000246046]	benign	16	51139879	51139879	Human	1	name
11551593	CV255793	single nucleotide variant	NM_002968.3(SALL1):c.2310C>T (p.Ile770=)	Townes syndrome [RCV000537361]\|not provided [RCV001636773]\|not specified [RCV000253246]	benign	16	51139912	51139912	Human	1	name
11547817	CV255794	single nucleotide variant	NM_002968.3(SALL1):c.2178G>A (p.Arg726=)	Townes syndrome [RCV001516082]\|not provided [RCV000992804]\|not specified [RCV000248259]	benign\|likely benign	16	51140044	51140044	Human	1	name
11581492	CV268157	single nucleotide variant	NM_002968.3(SALL1):c.235G>C (p.Ala79Pro)	Townes syndrome [RCV002059139]\|not provided [RCV001574061]\|not specified [RCV000304067]	benign\|likely benign	16	51141987	51141987	Human	1	name
11640285	CV268852	single nucleotide variant	NM_002968.3(SALL1):c.2373C>A (p.Gly791=)	Townes syndrome [RCV005090351]\|not provided [RCV000336180]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51139849	51139849	Human	1	name
11636725	CV269186	single nucleotide variant	NM_002968.3(SALL1):c.1398C>A (p.Ile466=)	Townes syndrome [RCV002055057]\|not provided [RCV000272933]	likely benign\|uncertain significance	16	51140824	51140824	Human	1	name
11637555	CV270333	single nucleotide variant	NM_002968.3(SALL1):c.1911G>A (p.Ala637=)	Townes syndrome [RCV002521947]\|not provided [RCV001610779]\|not specified [RCV000287936]	benign\|likely benign	16	51140311	51140311	Human	1	name
401937870	CV2803682	single nucleotide variant	NM_002968.3(SALL1):c.211G>C (p.Val71Leu)	SALL1-related disorder [RCV003416966]	uncertain significance	16	51142011	51142011	Human		name , trait , alternate_id
405077189	CV2868302	single nucleotide variant	NM_002968.3(SALL1):c.239C>A (p.Ser80Tyr)	Townes syndrome [RCV003595140]	uncertain significance	16	51141983	51141983	Human	1	name
405078474	CV2879219	single nucleotide variant	NM_002968.3(SALL1):c.2356C>A (p.Arg786=)	Townes syndrome [RCV003595156]	likely benign	16	51139866	51139866	Human	1	name
405081572	CV2893978	single nucleotide variant	NM_002968.3(SALL1):c.1716G>A (p.Thr572=)	Townes syndrome [RCV003595557]	likely benign	16	51140506	51140506	Human	1	name
405057241	CV2905360	single nucleotide variant	NM_002968.3(SALL1):c.2805G>A (p.Thr935=)	Townes syndrome [RCV003593399]	likely benign	16	51139417	51139417	Human	1	name
405193110	CV2977648	single nucleotide variant	NM_002968.3(SALL1):c.2511C>A (p.Ile837=)	Townes syndrome [RCV003760961]	likely benign	16	51139711	51139711	Human	1	name
405193555	CV2984950	single nucleotide variant	NM_002968.3(SALL1):c.1728C>A (p.Ala576=)	Townes syndrome [RCV003760985]	likely benign	16	51140494	51140494	Human	1	name
405179459	CV3022086	single nucleotide variant	NM_002968.3(SALL1):c.2535C>T (p.Asp845=)	Townes syndrome [RCV003759254]\|not specified [RCV004801380]	likely benign	16	51139687	51139687	Human	1	name
405187421	CV3059968	single nucleotide variant	NM_002968.3(SALL1):c.2862C>T (p.Ser954=)	Townes syndrome [RCV003760275]	uncertain significance	16	51139360	51139360	Human	1	name
405190202	CV3074607	single nucleotide variant	NM_002968.3(SALL1):c.1362C>T (p.Cys454=)	Townes syndrome [RCV003760615]	likely benign	16	51140860	51140860	Human	1	name
405263144	CV3189420	single nucleotide variant	NM_002968.3(SALL1):c.1527C>T (p.Asn509=)	SALL1-related disorder [RCV003896654]	likely benign	16	51140695	51140695	Human		name , trait , alternate_id
405273788	CV3198171	single nucleotide variant	NM_002968.3(SALL1):c.2643A>C (p.Leu881=)	SALL1-related disorder [RCV003901940]	likely benign	16	51139579	51139579	Human		name , trait , alternate_id
405267372	CV3202225	single nucleotide variant	NM_002968.3(SALL1):c.2928C>T (p.His976=)	SALL1-related disorder [RCV003911693]	likely benign	16	51139294	51139294	Human		name , trait , alternate_id
405271008	CV3209243	single nucleotide variant	NM_002968.3(SALL1):c.1143C>T (p.Ser381=)	SALL1-related disorder [RCV003949605]	likely benign	16	51141079	51141079	Human		name , trait , alternate_id
405276160	CV3216047	single nucleotide variant	NM_002968.3(SALL1):c.1992G>A (p.Pro664=)	SALL1-related disorder [RCV003952306]\|Townes syndrome [RCV005102903]	benign\|likely benign	16	51140230	51140230	Human	1	name , trait , alternate_id
405279279	CV3217453	single nucleotide variant	NM_002968.3(SALL1):c.2397C>T (p.Pro799=)	SALL1-related disorder [RCV003976864]\|Townes syndrome [RCV005103095]	likely benign	16	51139825	51139825	Human	1	name , trait , alternate_id
405266023	CV3220995	single nucleotide variant	NM_002968.3(SALL1):c.2121G>A (p.Glu707=)	SALL1-related disorder [RCV003969138]	likely benign	16	51140101	51140101	Human		name , trait , alternate_id
405280314	CV3222316	deletion	NM_002968.3(SALL1):c.953del (p.Pro318fs)	Townes-Brocks syndrome 1 [RCV003985198]	pathogenic	16	51141269	51141269	Human	1	name
405721456	CV3310316	single nucleotide variant	NM_002968.3(SALL1):c.2808G>A (p.Gln936=)	Inborn genetic diseases [RCV004449873]	likely benign	16	51139414	51139414	Human	1	name
405852302	CV3395895	deletion	NM_002968.3(SALL1):c.724del (p.His242fs)	Townes-Brocks syndrome 1 [RCV004556914]	likely pathogenic	16	51141498	51141498	Human	1	name
11619548	CV341754	single nucleotide variant	NM_002968.3(SALL1):c.1731C>G (p.Pro577=)	Townes syndrome [RCV003760719]	benign\|likely benign	16	51140491	51140491	Human	1	name
11618763	CV341762	single nucleotide variant	NM_002968.2(SALL1):c.263G>A (p.Ser88Asn)	Townes-Brocks syndrome 1 [RCV000317519]	likely benign	16	51141959	51141959	Human		name
11615553	CV343254	single nucleotide variant	NM_002968.3(SALL1):c.220G>A (p.Val74Ile)	SALL1-related disorder [RCV003920349]\|Townes syndrome [RCV001464389]\|not specified [RCV002248615]	likely benign\|uncertain significance	16	51142002	51142002	Human	1	name , trait , alternate_id
407514374	CV3483501	single nucleotide variant	NM_002968.3(SALL1):c.268C>A (p.Pro90Thr)	Inborn genetic diseases [RCV004674440]\|not provided [RCV004701928]	uncertain significance	16	51141954	51141954	Human	1	name
407469084	CV3483506	single nucleotide variant	NM_002968.3(SALL1):c.201A>T (p.Lys67Asn)	Inborn genetic diseases [RCV004661357]	uncertain significance	16	51142021	51142021	Human	1	name
408384654	CV3504198	deletion	NM_002968.3(SALL1):c.486del (p.Gly163fs)	SALL1-related disorder [RCV004731875]	likely pathogenic	16	51141736	51141736	Human		name , trait , alternate_id
408384359	CV3505154	deletion	NM_002968.3(SALL1):c.886del (p.Ala296fs)	SALL1-related disorder [RCV004731744]	likely pathogenic	16	51141336	51141336	Human		name , trait , alternate_id
408378241	CV3511649	single nucleotide variant	NM_002968.3(SALL1):c.2055A>G (p.Ala685=)	SALL1-related disorder [RCV004752188]	likely benign	16	51140167	51140167	Human		name , trait , alternate_id
597946524	CV3704835	single nucleotide variant	NM_002968.3(SALL1):c.2631G>A (p.Leu877=)	Townes syndrome [RCV005189108]	benign	16	51139591	51139591	Human	1	name
598208192	CV3704894	single nucleotide variant	NM_002968.3(SALL1):c.265C>T (p.Pro89Ser)	Inborn genetic diseases [RCV005270187]	uncertain significance	16	51141957	51141957	Human	1	name
12839016	CV374409	single nucleotide variant	NM_002968.3(SALL1):c.1950C>T (p.Gly650=)	SALL1-related disorder [RCV003922796]\|Townes syndrome [RCV001521068]\|not provided [RCV000428044]	benign\|likely benign	16	51140272	51140272	Human	1	name , trait , alternate_id
597953505	CV3757063	single nucleotide variant	NM_002968.3(SALL1):c.2850A>G (p.Arg950=)	Townes syndrome [RCV005079924]	likely benign	16	51139372	51139372	Human	1	name
597967661	CV3760698	single nucleotide variant	NM_002968.3(SALL1):c.2028T>C (p.Phe676=)	Townes syndrome [RCV005083265]	likely benign	16	51140194	51140194	Human	1	name
597932825	CV3789865	single nucleotide variant	NM_002968.3(SALL1):c.1251C>T (p.Asn417=)	Townes syndrome [RCV005131944]	likely benign	16	51140971	51140971	Human	1	name
597882403	CV3834062	single nucleotide variant	NM_002968.3(SALL1):c.268C>G (p.Pro90Ala)	Townes syndrome [RCV005178381]	uncertain significance	16	51141954	51141954	Human	1	name
597940696	CV3836752	single nucleotide variant	NM_002968.3(SALL1):c.1956G>A (p.Ala652=)	Townes syndrome [RCV005187772]	likely benign	16	51140266	51140266	Human	1	name
597888275	CV3839208	single nucleotide variant	NM_002968.3(SALL1):c.2922T>C (p.Ser974=)	Townes syndrome [RCV005179294]	likely benign	16	51139300	51139300	Human	1	name
597947046	CV3841798	single nucleotide variant	NM_002968.3(SALL1):c.120G>T (p.Lys40Asn)	Townes syndrome [RCV005189232]	uncertain significance	16	51142102	51142102	Human	1	name
597964680	CV3848133	single nucleotide variant	NM_002968.3(SALL1):c.2283G>A (p.Pro761=)	Townes syndrome [RCV005194012]	likely benign	16	51139939	51139939	Human	1	name
597908162	CV3853673	single nucleotide variant	NM_002968.3(SALL1):c.2214C>T (p.Ile738=)	Townes syndrome [RCV005203155]	likely benign	16	51140008	51140008	Human	1	name
597926338	CV3855354	deletion	NM_002968.3(SALL1):c.928del (p.Ile310fs)	Townes syndrome [RCV005205953]	pathogenic	16	51141294	51141294	Human	1	name
597915687	CV3860897	deletion	NM_002968.3(SALL1):c.350del (p.Asn117fs)	Townes syndrome [RCV005204260]	pathogenic	16	51141872	51141872	Human	1	name
617149592	CV4021355	single nucleotide variant	NM_002968.3(SALL1):c.235G>A (p.Ala79Thr)	not provided [RCV005425324]	likely benign	16	51141987	51141987	Human		name
13617400	CV530347	single nucleotide variant	NM_002968.3(SALL1):c.1014T>G (p.Ser338=)	Townes syndrome [RCV000634156]	likely benign	16	51141208	51141208	Human	1	name
13834613	CV585862	single nucleotide variant	NM_002968.3(SALL1):c.2223G>A (p.Arg741=)	Townes syndrome [RCV003117527]\|not provided [RCV000730177]	likely benign\|uncertain significance	16	51139999	51139999	Human	1	name
15154152	CV703732	single nucleotide variant	NM_002968.3(SALL1):c.1200G>A (p.Ser400=)	Townes syndrome [RCV002546005]\|not provided [RCV003424488]	benign	16	51141022	51141022	Human	1	name
15172201	CV740237	single nucleotide variant	NM_002968.3(SALL1):c.1485C>T (p.His495=)	not provided [RCV000905621]	likely benign	16	51140737	51140737	Human		name
38483012	CV927848	duplication	NM_002968.3(SALL1):c.750dup (p.Arg251fs)	Townes syndrome [RCV001218743]	pathogenic	16	51141471	51141472	Human	1	name
38473131	CV937485	deletion	NM_002968.3(SALL1):c.420del (p.Ser141fs)	Townes syndrome [RCV001203386]	pathogenic	16	51141802	51141802	Human	1	name
126735051	CV1000940	single nucleotide variant	NM_002968.3(SALL1):c.824T>A (p.Leu275Ter)	not provided [RCV001311449]	pathogenic	16	51141398	51141398	Human		name
127267499	CV1063650	duplication	NM_002968.3(SALL1):c.1028dup (p.Leu344fs)	Townes syndrome [RCV001381951]	pathogenic	16	51141193	51141194	Human	1	name
127241417	CV1063651	duplication	NM_002968.3(SALL1):c.1027dup (p.Ile343fs)	Townes syndrome [RCV001383646]	pathogenic	16	51141194	51141195	Human	1	name
127334047	CV1146191	single nucleotide variant	NM_002968.3(SALL1):c.3720G>A (p.Ala1240=)	Townes syndrome [RCV001490574]	likely benign	16	51137367	51137367	Human	1	name
150338403	CV1174190	single nucleotide variant	NM_002968.3(SALL1):c.424G>C (p.Gly142Arg)	Townes-Brocks syndrome 1 [RCV001542321]	uncertain significance	16	51141798	51141798	Human	1	name
150424767	CV1185114	single nucleotide variant	NM_002968.3(SALL1):c.3330T>C (p.Ser1110=)	Townes syndrome [RCV005094775]\|Townes-Brocks syndrome 1 [RCV002501899]\|not provided [RCV001557100]	likely benign	16	51138892	51138892	Human	1	name
150437429	CV1200980	single nucleotide variant	NM_002968.3(SALL1):c.592G>A (p.Glu198Lys)	not provided [RCV001583060]	uncertain significance	16	51141630	51141630	Human		name
150497377	CV1237012	single nucleotide variant	NM_002968.3(SALL1):c.3603C>T (p.Gly1201=)	SALL1-related disorder [RCV003956302]\|not provided [RCV001656076]	benign\|likely benign	16	51137484	51137484	Human	1	name , trait , alternate_id
150465661	CV1255070	single nucleotide variant	NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)	Townes syndrome [RCV002538599]\|Townes-Brocks syndrome 1 [RCV002502017]\|not provided [RCV001670243]	benign\|likely benign	16	51137358	51137358	Human	1	name
151349655	CV1325445	single nucleotide variant	NM_002968.3(SALL1):c.373A>G (p.Met125Val)	not provided [RCV001814731]	uncertain significance	16	51141849	51141849	Human		name
151831443	CV1373391	single nucleotide variant	NM_002968.3(SALL1):c.3327G>A (p.Pro1109=)	Townes syndrome [RCV001901849]\|not provided [RCV004706259]	likely benign	16	51138895	51138895	Human	1	name
152062137	CV1532933	single nucleotide variant	NM_002968.3(SALL1):c.3231C>T (p.Pro1077=)	Townes syndrome [RCV002090379]\|Townes-Brocks syndrome 1 [RCV002498112]	likely benign	16	51138991	51138991	Human	1	name
152977871	CV1671227	single nucleotide variant	NM_002968.3(SALL1):c.601C>T (p.Gln201Ter)	Townes-Brocks syndrome 1 [RCV002226901]	pathogenic\|likely pathogenic	16	51141621	51141621	Human	1	name
152979389	CV1675530	single nucleotide variant	NM_002968.3(SALL1):c.494C>T (p.Ser165Phe)	Inborn genetic diseases [RCV003308075]\|Townes-Brocks syndrome 1 [RCV002244120]	uncertain significance	16	51141728	51141728	Human	2	name
152980891	CV1676204	single nucleotide variant	NM_002968.3(SALL1):c.721A>G (p.Ile241Val)	Townes-Brocks syndrome 1 [RCV002245280]	uncertain significance	16	51141501	51141501	Human	1	name
153301761	CV1685993	single nucleotide variant	NM_002968.3(SALL1):c.709C>T (p.Gln237Ter)	Townes-Brocks syndrome 1 [RCV002260954]	pathogenic	16	51141513	51141513	Human	1	name
153348397	CV1692411	deletion	NM_002968.3(SALL1):c.2129del (p.Ile710fs)	Townes-Brocks syndrome 1 [RCV002274276]	likely pathogenic	16	51140093	51140093	Human	1	name
156210238	CV1871416	single nucleotide variant	NM_002968.3(SALL1):c.874C>T (p.Gln292Ter)	SALL1-related disorder [RCV003926655]\|Townes syndrome [RCV003058499]	pathogenic	16	51141348	51141348	Human	1	name , trait , alternate_id
156350308	CV1886134	single nucleotide variant	NM_002968.3(SALL1):c.3180C>T (p.Leu1060=)	Townes syndrome [RCV003090922]	likely benign	16	51139042	51139042	Human	1	name
155985982	CV1907674	single nucleotide variant	NM_002968.3(SALL1):c.827G>C (p.Arg276Pro)	Inborn genetic diseases [RCV004661567]\|Townes syndrome [RCV003097603]	uncertain significance	16	51141395	51141395	Human	2	name
10050718	CV192351	single nucleotide variant	NM_002968.3(SALL1):c.3120A>G (p.Thr1040=)	Townes syndrome [RCV000634155]\|Townes-Brocks syndrome 1 [RCV002492750]\|not provided [RCV001610487]\|not specified [RCV000175745]	benign\|likely benign\|uncertain significance	16	51139102	51139102	Human	1	name
155912153	CV1935300	single nucleotide variant	NM_002968.3(SALL1):c.833C>T (p.Ser278Phe)	Townes-Brocks syndrome 1 [RCV002510629]	uncertain significance	16	51141389	51141389	Human	1	name
156440825	CV1940549	single nucleotide variant	NM_002968.3(SALL1):c.868T>C (p.Ser290Pro)	Townes syndrome [RCV003110866]	uncertain significance	16	51141354	51141354	Human	1	name
156323621	CV1975320	single nucleotide variant	NM_002968.3(SALL1):c.3801C>T (p.Leu1267=)	Townes syndrome [RCV002630512]	likely benign	16	51137286	51137286	Human	1	name
156405507	CV1994440	single nucleotide variant	NM_002968.3(SALL1):c.983A>G (p.Asn328Ser)	Townes syndrome [RCV002658323]	uncertain significance	16	51141239	51141239	Human	1	name
155913660	CV2007872	single nucleotide variant	NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)	Inborn genetic diseases [RCV002700474]\|Townes syndrome [RCV002681898]	benign\|uncertain significance	16	51141723	51141723	Human	2	name
156280796	CV2011722	single nucleotide variant	NM_002968.3(SALL1):c.3630C>T (p.Pro1210=)	Townes syndrome [RCV002715292]	likely benign	16	51137457	51137457	Human	1	name
10766699	CV204430	single nucleotide variant	NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)	Townes-Brocks syndrome 1 [RCV000205374]\|not provided [RCV002291589]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	51141273	51141273	Human	1	name
156038512	CV2097866	single nucleotide variant	NM_002968.3(SALL1):c.3537A>G (p.Val1179=)	Townes syndrome [RCV002885714]	likely benign	16	51137550	51137550	Human	1	name
156250332	CV2106550	single nucleotide variant	NM_002968.3(SALL1):c.662G>A (p.Gly221Glu)	Townes syndrome [RCV002933523]\|not provided [RCV004809872]	likely benign	16	51141560	51141560	Human	1	name
155939058	CV2119681	single nucleotide variant	NM_002968.3(SALL1):c.481G>A (p.Gly161Ser)	Townes syndrome [RCV002971155]	uncertain significance	16	51141741	51141741	Human	1	name
156375507	CV2124070	single nucleotide variant	NM_002968.3(SALL1):c.3666G>A (p.Ala1222=)	Townes syndrome [RCV002942677]	likely benign	16	51137421	51137421	Human	1	name
156228030	CV2199374	single nucleotide variant	NM_002968.3(SALL1):c.406G>A (p.Gly136Ser)	Inborn genetic diseases [RCV002644762]\|Townes syndrome [RCV005099440]	uncertain significance	16	51141816	51141816	Human	2	name
8559906	CV22465	deletion	NM_002968.3(SALL1):c.1270del (p.Gln424fs)	Townes-Brocks syndrome 1 [RCV000007851]	pathogenic	16	51140952	51140952	Human	1	name
8559908	CV22467	single nucleotide variant	NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)	Townes syndrome [RCV000792529]\|Townes-Brocks syndrome 1 [RCV000007853]\|not provided [RCV003221781]	pathogenic\|likely pathogenic	16	51141396	51141396	Human	1	name
8559912	CV22471	deletion	NM_002968.3(SALL1):c.1821del (p.Leu608fs)	Townes-Brocks-branchiootorenal-like syndrome [RCV000007857]	pathogenic	16	51140401	51140401	Human	2	name
8559914	CV22473	single nucleotide variant	NM_002968.3(SALL1):c.967C>T (p.Gln323Ter)	Townes syndrome [RCV000697040]\|Townes-Brocks syndrome 1 [RCV000989601]\|Townes-Brocks-branchiootorenal-like syndrome [RCV000007859]	pathogenic	16	51141255	51141255	Human	2	name
156081571	CV2292824	single nucleotide variant	NM_002968.3(SALL1):c.368A>G (p.Glu123Gly)	Inborn genetic diseases [RCV002869289]	uncertain significance	16	51141854	51141854	Human	1	name
155942849	CV2298329	single nucleotide variant	NM_002968.3(SALL1):c.974G>T (p.Ser325Ile)	Inborn genetic diseases [RCV002879868]	uncertain significance	16	51141248	51141248	Human	1	name
155979827	CV2339214	single nucleotide variant	NM_002968.3(SALL1):c.560A>C (p.Asn187Thr)	Inborn genetic diseases [RCV002946565]	uncertain significance	16	51141662	51141662	Human	1	name
155904049	CV2353738	single nucleotide variant	NM_002968.3(SALL1):c.787G>T (p.Asp263Tyr)	Inborn genetic diseases [RCV002990205]\|SALL1-related disorder [RCV003900913]\|Townes syndrome [RCV005098995]	likely benign\|uncertain significance	16	51141435	51141435	Human	2	name , trait , alternate_id
156386250	CV2364692	single nucleotide variant	NM_002968.3(SALL1):c.839A>G (p.Asn280Ser)	Inborn genetic diseases [RCV002679822]	uncertain significance	16	51141383	51141383	Human	1	name
243050154	CV2417342	single nucleotide variant	NM_002968.3(SALL1):c.652G>A (p.Gly218Arg)	not provided [RCV003152214]	uncertain significance	16	51141570	51141570	Human		name
329361000	CV2439928	single nucleotide variant	NM_002968.3(SALL1):c.442G>A (p.Ala148Thr)	Inborn genetic diseases [RCV003180179]\|Townes syndrome [RCV003759800]	likely benign\|uncertain significance	16	51141780	51141780	Human	2	name
329351871	CV2476641	single nucleotide variant	NM_002968.3(SALL1):c.718C>T (p.Gln240Ter)	not provided [RCV003222873]	pathogenic	16	51141504	51141504	Human		name
11543502	CV255788	single nucleotide variant	NM_002968.3(SALL1):c.3456C>T (p.His1152=)	Townes syndrome [RCV001510537]\|Townes-Brocks syndrome 1 [RCV001795450]\|not provided [RCV001711694]\|not specified [RCV000242543]	benign	16	51138766	51138766	Human	8	name
11543502	CV255788	single nucleotide variant	NM_002968.3(SALL1):c.3456C>T (p.His1152=)	Townes syndrome [RCV001510537]\|Townes-Brocks syndrome 1 [RCV001795450]\|not provided [RCV001711694]\|not specified [RCV000242543]	benign	16	51138766	51138767	Human	8	name
11547952	CV255797	single nucleotide variant	NM_002968.3(SALL1):c.478G>A (p.Gly160Ser)	Townes syndrome [RCV001854962]\|not provided [RCV001696194]\|not specified [RCV000248435]	benign\|likely benign\|uncertain significance	16	51141744	51141744	Human	1	name
11544214	CV255799	single nucleotide variant	NM_002968.3(SALL1):c.475A>G (p.Ser159Gly)	Townes syndrome [RCV001515298]\|Townes-Brocks syndrome 1 [RCV002272195]\|not provided [RCV001709539]\|not specified [RCV000243488]	benign	16	51141747	51141747	Human	1	name
11544595	CV255800	single nucleotide variant	NM_002968.3(SALL1):c.472A>G (p.Ser158Gly)	SALL1-related disorder [RCV003891914]\|Townes syndrome [RCV000865465]\|not provided [RCV002274958]\|not specified [RCV000244001]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	51141750	51141750	Human	1	name , trait , alternate_id
11549787	CV255802	single nucleotide variant	NM_002968.3(SALL1):c.379G>C (p.Val127Leu)	Townes syndrome [RCV001089030]\|not provided [RCV000439131]\|not specified [RCV000250871]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	51141843	51141843	Human	4	name
11549787	CV255802	single nucleotide variant	NM_002968.3(SALL1):c.379G>C (p.Val127Leu)	Townes syndrome [RCV001089030]\|not provided [RCV000439131]\|not specified [RCV000250871]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	51141843	51141844	Human	4	name
11578634	CV266326	single nucleotide variant	NM_002968.3(SALL1):c.809C>T (p.Pro270Leu)	Townes syndrome [RCV001087010]\|not provided [RCV000514663]\|not specified [RCV000320758]	benign\|likely benign	16	51141413	51141413	Human	1	name
11640211	CV269643	single nucleotide variant	NM_002968.3(SALL1):c.986C>T (p.Thr329Ile)	Inborn genetic diseases [RCV000624031]\|Townes syndrome [RCV005090359]\|not provided [RCV000334683]	uncertain significance	16	51141236	51141236	Human	2	name
401739350	CV2708416	single nucleotide variant	NM_002968.3(SALL1):c.429C>G (p.Ser143Arg)	Inborn genetic diseases [RCV003292073]\|Townes syndrome [RCV003759803]	uncertain significance	16	51141793	51141793	Human	2	name
11581544	CV271828	single nucleotide variant	NM_002968.3(SALL1):c.3915C>T (p.Asn1305=)	Townes syndrome [RCV000872592]\|not provided [RCV001718582]\|not specified [RCV000331240]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	51137172	51137172	Human	1	name
401796713	CV2739693	single nucleotide variant	NM_002968.3(SALL1):c.325G>C (p.Asp109His)	not provided [RCV003319654]	uncertain significance	16	51141897	51141897	Human		name
11644056	CV274299	single nucleotide variant	NM_002968.3(SALL1):c.484G>A (p.Gly162Ser)	Townes syndrome [RCV002522015]\|Townes-Brocks syndrome 1 [RCV002480049]\|not provided [RCV000405577]	likely benign\|uncertain significance	16	51141738	51141738	Human	1	name
11633000	CV275509	single nucleotide variant	NM_002968.3(SALL1):c.727C>T (p.Gln243Ter)	not provided [RCV000302939]	pathogenic	16	51141495	51141495	Human		name
401932034	CV2799066	single nucleotide variant	NM_002968.3(SALL1):c.388C>G (p.Pro130Ala)	SALL1-related disorder [RCV003408598]	uncertain significance	16	51141834	51141834	Human		name , trait , alternate_id
401911679	CV2807941	single nucleotide variant	NM_002968.3(SALL1):c.559A>G (p.Asn187Asp)	not provided [RCV003426707]	uncertain significance	16	51141663	51141663	Human		name
401911680	CV2807942	single nucleotide variant	NM_002968.3(SALL1):c.534A>C (p.Gln178His)	not provided [RCV003426708]	uncertain significance	16	51141688	51141688	Human		name
401964676	CV2848809	deletion	NM_002968.3(SALL1):c.1148del (p.Leu383fs)	Townes-Brocks syndrome 1 [RCV003485011]	pathogenic	16	51141074	51141074	Human	1	name
405079087	CV2881236	single nucleotide variant	NM_002968.3(SALL1):c.3963C>T (p.Ile1321=)	Townes syndrome [RCV003595335]	likely benign	16	51137124	51137124	Human	1	name
405081357	CV2890272	single nucleotide variant	NM_002968.3(SALL1):c.972C>A (p.Ser324Arg)	Townes syndrome [RCV003595538]	uncertain significance	16	51141250	51141250	Human	1	name
405184577	CV2943358	single nucleotide variant	NM_002968.3(SALL1):c.630C>A (p.Phe210Leu)	Townes syndrome [RCV003759911]	uncertain significance	16	51141592	51141592	Human	1	name
405184583	CV2943361	single nucleotide variant	NM_002968.3(SALL1):c.419C>A (p.Ser140Tyr)	Townes syndrome [RCV003759912]	uncertain significance	16	51141803	51141803	Human	1	name
405186086	CV2950886	single nucleotide variant	NM_002968.3(SALL1):c.3966C>T (p.Val1322=)	Townes syndrome [RCV003760113]	likely benign	16	51137121	51137121	Human	1	name
405190586	CV2956004	single nucleotide variant	NM_002968.3(SALL1):c.359A>T (p.Asp120Val)	Townes syndrome [RCV003760658]	likely benign	16	51141863	51141863	Human	1	name
405262660	CV3189374	single nucleotide variant	NM_002968.3(SALL1):c.3117C>T (p.Ser1039=)	SALL1-related disorder [RCV003896608]	likely benign	16	51139105	51139105	Human		name , trait , alternate_id
405289459	CV3205187	single nucleotide variant	NM_002968.3(SALL1):c.3855C>G (p.Leu1285=)	SALL1-related disorder [RCV003961782]	likely benign	16	51137232	51137232	Human		name , trait , alternate_id
405282203	CV3216248	single nucleotide variant	NM_002968.3(SALL1):c.583G>A (p.Val195Ile)	SALL1-related disorder [RCV003956763]	likely benign	16	51141639	51141639	Human		name , trait , alternate_id
11634966	CV325620	single nucleotide variant	NM_002968.3(SALL1):c.3768G>A (p.Gln1256=)	Townes syndrome [RCV005085868]	likely benign\|uncertain significance	16	51137319	51137319	Human	1	name
11625622	CV325621	single nucleotide variant	NM_002968.2(SALL1):c.3711T>C (p.Tyr1237=)	Townes-Brocks syndrome 1 [RCV000400930]	likely benign	16	51137376	51137376	Human		name
405721492	CV3310321	single nucleotide variant	NM_002968.3(SALL1):c.682G>T (p.Ala228Ser)	Inborn genetic diseases [RCV004449878]	uncertain significance	16	51141540	51141540	Human	1	name
405721496	CV3310322	single nucleotide variant	NM_002968.3(SALL1):c.752G>A (p.Arg251His)	Inborn genetic diseases [RCV004449879]	uncertain significance	16	51141470	51141470	Human	1	name
405721506	CV3310323	single nucleotide variant	NM_002968.3(SALL1):c.976T>G (p.Ser326Ala)	Inborn genetic diseases [RCV004449880]	uncertain significance	16	51141246	51141246	Human	1	name
11617258	CV335268	single nucleotide variant	NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)	Townes syndrome [RCV000871349]\|Townes-Brocks syndrome 1 [RCV002480143]\|not provided [RCV001653564]	benign\|likely benign	16	51139000	51139000	Human	1	name
11625630	CV335278	single nucleotide variant	NM_002968.3(SALL1):c.649G>A (p.Gly217Ser)	Inborn genetic diseases [RCV003284617]\|Townes syndrome [RCV003594639]	likely benign\|uncertain significance	16	51141573	51141573	Human	2	name
407424993	CV3411029	single nucleotide variant	NM_002968.3(SALL1):c.391G>A (p.Val131Ile)	not provided [RCV004588719]	uncertain significance	16	51141831	51141831	Human		name
11612495	CV343247	single nucleotide variant	NM_002968.3(SALL1):c.3942C>T (p.Phe1314=)	SALL1-related disorder [RCV003922349]\|Townes syndrome [RCV000872924]\|Townes-Brocks syndrome 1 [RCV002504089]\|not provided [RCV001690062]\|not specified [RCV001820951]	benign\|likely benign	16	51137145	51137145	Human	1	name , trait , alternate_id
11621011	CV343252	single nucleotide variant	NM_002968.3(SALL1):c.676G>A (p.Val226Ile)	Townes syndrome [RCV005090479]\|not provided [RCV000513820]	likely benign\|uncertain significance	16	51141546	51141546	Human	1	name
11619863	CV343253	single nucleotide variant	NM_002968.3(SALL1):c.389C>T (p.Pro130Leu)	Townes syndrome [RCV002976721]\|Townes-Brocks syndrome 1 [RCV003485801]	likely benign	16	51141833	51141833	Human	1	name
407501498	CV3495604	deletion	NM_002968.3(SALL1):c.1295del (p.Asn432fs)	not provided [RCV004697444]	pathogenic	16	51140927	51140927	Human		name
408377528	CV3508771	deletion	NM_002968.3(SALL1):c.1282del (p.Ser428fs)	SALL1-related disorder [RCV004751057]	pathogenic	16	51140940	51140940	Human		name , trait , alternate_id
408377578	CV3509544	single nucleotide variant	NM_002968.3(SALL1):c.541G>A (p.Asp181Asn)	SALL1-related disorder [RCV004751092]\|Townes syndrome [RCV005103709]	uncertain significance	16	51141681	51141681	Human	1	name , trait , alternate_id
408389253	CV3529293	single nucleotide variant	NM_002968.3(SALL1):c.916C>G (p.Gln306Glu)	not provided [RCV004774115]	uncertain significance	16	51141306	51141306	Human		name
596944974	CV3543630	single nucleotide variant	NM_002968.3(SALL1):c.3756C>A (p.Ile1252=)	not provided [RCV004801752]	uncertain significance	16	51137331	51137331	Human		name
597728746	CV3594581	single nucleotide variant	NM_002968.3(SALL1):c.469A>G (p.Ser157Gly)	Inborn genetic diseases [RCV004962636]\|Townes syndrome [RCV005107819]	likely benign\|uncertain significance	16	51141753	51141753	Human	2	name
597728755	CV3594584	single nucleotide variant	NM_002968.3(SALL1):c.751C>T (p.Arg251Cys)	Inborn genetic diseases [RCV004962638]	uncertain significance	16	51141471	51141471	Human	1	name
597632231	CV3594585	single nucleotide variant	NM_002968.3(SALL1):c.755A>G (p.His252Arg)	Inborn genetic diseases [RCV004968715]	uncertain significance	16	51141467	51141467	Human	1	name
597728774	CV3594590	single nucleotide variant	NM_002968.3(SALL1):c.952C>G (p.Pro318Ala)	Inborn genetic diseases [RCV004962642]\|Townes syndrome [RCV005107820]	uncertain significance	16	51141270	51141270	Human	2	name
12742773	CV360179	duplication	NM_002968.3(SALL1):c.1763dup (p.Gly589fs)	not provided [RCV000414487]	pathogenic	16	51140458	51140459	Human		name
12843777	CV375205	single nucleotide variant	NM_002968.3(SALL1):c.3771C>T (p.Asn1257=)	Townes syndrome [RCV002524840]\|Townes-Brocks syndrome 1 [RCV002480291]\|not specified [RCV000436838]	likely benign	16	51137316	51137316	Human	1	name
597866920	CV3767672	single nucleotide variant	NM_002968.3(SALL1):c.3240G>A (p.Ser1080=)	Townes syndrome [RCV005107009]	likely benign	16	51138982	51138982	Human	1	name
597952115	CV3815702	single nucleotide variant	NM_002968.3(SALL1):c.3801C>G (p.Leu1267=)	Townes syndrome [RCV005161455]	likely benign	16	51137286	51137286	Human	1	name
597941238	CV3837041	single nucleotide variant	NM_002968.3(SALL1):c.664G>A (p.Gly222Ser)	Townes syndrome [RCV005187872]	uncertain significance	16	51141558	51141558	Human	1	name
597924248	CV3840112	single nucleotide variant	NM_002968.3(SALL1):c.647G>C (p.Cys216Ser)	Townes syndrome [RCV005184851]	uncertain significance	16	51141575	51141575	Human	1	name
616935213	CV3881696	deletion	NM_002968.3(SALL1):c.2390del (p.Pro797fs)	Townes-Brocks syndrome 1 [RCV005410980]	likely pathogenic	16	51139832	51139832	Human	1	name
598227653	CV3894533	single nucleotide variant	NM_002968.3(SALL1):c.3966C>G (p.Val1322=)	not provided [RCV005257776]	likely benign	16	51137121	51137121	Human		name
598208206	CV3906463	single nucleotide variant	NM_002968.3(SALL1):c.955A>G (p.Ile319Val)	Inborn genetic diseases [RCV005270191]	uncertain significance	16	51141267	51141267	Human	1	name
616935061	CV4009276	single nucleotide variant	NM_002968.3(SALL1):c.617C>A (p.Ala206Glu)	not provided [RCV005402448]	uncertain significance	16	51141605	51141605	Human		name
616936099	CV4016000	single nucleotide variant	NM_002968.3(SALL1):c.535C>T (p.Leu179Phe)	not provided [RCV005414864]	uncertain significance	16	51141687	51141687	Human		name
13475877	CV465770	duplication	NM_002968.3(SALL1):c.1214dup (p.Leu406fs)	Townes syndrome [RCV000548925]	pathogenic	16	51141007	51141008	Human	1	name
13472757	CV466492	deletion	NM_002968.3(SALL1):c.2256del (p.Tyr753fs)	Townes syndrome [RCV000525061]	pathogenic	16	51139966	51139966	Human	1	name
13509201	CV482101	single nucleotide variant	NM_002968.3(SALL1):c.814C>T (p.Gln272Ter)	Townes syndrome [RCV001853841]\|not provided [RCV000579178]	pathogenic	16	51141408	51141408	Human	1	name
13518779	CV486145	single nucleotide variant	NM_002968.3(SALL1):c.572T>C (p.Ile191Thr)	Townes syndrome [RCV005091524]\|not provided [RCV000585096]	uncertain significance	16	51141650	51141650	Human	1	name
13521925	CV489709	single nucleotide variant	NM_002968.3(SALL1):c.3021C>G (p.Gly1007=)	not provided [RCV000591086]	uncertain significance	16	51139201	51139201	Human		name
13518795	CV489930	single nucleotide variant	NM_002968.3(SALL1):c.3180C>A (p.Leu1060=)	Townes syndrome [RCV002062026]\|Townes-Brocks syndrome 1 [RCV002491189]\|not specified [RCV000597625]	benign\|likely benign	16	51139042	51139042	Human	1	name
13523540	CV490885	single nucleotide variant	NM_002968.3(SALL1):c.361A>G (p.Arg121Gly)	Inborn genetic diseases [RCV004024766]\|Townes-Brocks syndrome 1 [RCV002506418]\|not provided [RCV000593129]	uncertain significance	16	51141861	51141861	Human	2	name
13523305	CV493394	single nucleotide variant	NM_002968.3(SALL1):c.3750C>T (p.Asn1250=)	Townes syndrome [RCV002531097]\|not provided [RCV000592828]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51137337	51137337	Human	1	name
13617399	CV530025	deletion	NM_002968.3(SALL1):c.2356del (p.Arg786fs)	Townes syndrome [RCV000634153]	pathogenic	16	51139866	51139866	Human	1	name
13617397	CV530030	single nucleotide variant	NM_002968.3(SALL1):c.958C>T (p.Gln320Ter)	Townes syndrome [RCV000634151]	pathogenic	16	51141264	51141264	Human	1	name
13617395	CV530032	single nucleotide variant	NM_002968.3(SALL1):c.866T>A (p.Leu289Ter)	Townes syndrome [RCV000634150]	pathogenic	16	51141356	51141356	Human	1	name
13799145	CV553564	single nucleotide variant	NM_002968.3(SALL1):c.712C>T (p.Gln238Ter)	Townes syndrome [RCV001386803]\|not provided [RCV000681840]	pathogenic\|likely pathogenic	16	51141510	51141510	Human	1	name
13833300	CV584530	single nucleotide variant	NM_002968.3(SALL1):c.3270C>T (p.Asn1090=)	Townes syndrome [RCV002536411]\|not provided [RCV000728506]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51138952	51138952	Human	1	name
13833302	CV584532	single nucleotide variant	NM_002968.3(SALL1):c.3222G>C (p.Ala1074=)	not provided [RCV000728508]	uncertain significance	16	51139000	51139000	Human		name
14696597	CV622117	single nucleotide variant	NM_002968.3(SALL1):c.602A>G (p.Gln201Arg)	Townes syndrome [RCV005092338]\|Townes-Brocks syndrome 1 [RCV002501022]\|VACTERL with hydrocephalus [RCV001007926]\|not provided [RCV000782264]	uncertain significance	16	51141620	51141620	Human	2	name
14736505	CV644746	deletion	NM_002968.3(SALL1):c.1324del (p.Ser442fs)	Townes syndrome [RCV000803639]	pathogenic	16	51140898	51140898	Human	1	name
14714071	CV644747	single nucleotide variant	NM_002968.3(SALL1):c.548C>A (p.Thr183Lys)	SALL1-related disorder [RCV003975328]\|Townes syndrome [RCV000810771]\|Townes-Brocks syndrome 1 [RCV002487762]	likely benign\|uncertain significance	16	51141674	51141674	Human	1	name , trait , alternate_id
15122477	CV693890	single nucleotide variant	NM_002968.3(SALL1):c.3759C>T (p.Ser1253=)	Townes syndrome [RCV000874421]\|not provided [RCV001546381]	likely benign	16	51137328	51137328	Human	1	name
15109641	CV693891	single nucleotide variant	NM_002968.3(SALL1):c.3084A>G (p.Pro1028=)	Townes-Brocks syndrome 1 [RCV002507517]\|not provided [RCV000871943]	likely benign	16	51139138	51139138	Human	1	name
15178011	CV703733	single nucleotide variant	NM_002968.3(SALL1):c.703G>A (p.Ala235Thr)	Congenital anomaly of kidney and urinary tract [RCV001849463]\|Townes syndrome [RCV005092908]\|Townes-Brocks syndrome 1 [RCV001254690]\|not provided [RCV000951173]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51141519	51141519	Human	2	name
15172393	CV726675	single nucleotide variant	NM_002968.3(SALL1):c.3957G>A (p.Lys1319=)	Townes syndrome [RCV002065492]	likely benign	16	51137130	51137130	Human	1	name
25314806	CV818327	deletion	NM_002968.3(SALL1):c.2801del (p.Ser934fs)	Townes-Brocks syndrome 1 [RCV001029827]	likely pathogenic	16	51139421	51139421	Human	1	name
25315050	CV818328	duplication	NM_002968.3(SALL1):c.2287dup (p.Arg763fs)	Townes-Brocks syndrome 1 [RCV001029980]	likely pathogenic	16	51139934	51139935	Human	1	name
26919771	CV843963	single nucleotide variant	NM_002968.3(SALL1):c.424G>A (p.Gly142Ser)	Townes syndrome [RCV001059302]	uncertain significance	16	51141798	51141798	Human	1	name
26896011	CV843964	single nucleotide variant	NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)	Townes syndrome [RCV001069839]\|Townes-Brocks syndrome 1 [RCV002505657]\|not provided [RCV002469341]	likely benign\|uncertain significance	16	51141810	51141810	Human	1	name
38477445	CV937484	single nucleotide variant	NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)	Townes syndrome [RCV001205091]\|Townes-Brocks syndrome 1 [RCV003322867]	pathogenic\|likely pathogenic	16	51141351	51141351	Human	1	name
126745888	CV976145	single nucleotide variant	NM_002968.3(SALL1):c.477C>A (p.Ser159Arg)	Congenital anomaly of kidney and urinary tract [RCV001328262]\|Inborn genetic diseases [RCV003339574]\|SALL1-related disorder [RCV003973170]\|Townes syndrome [RCV002537723]\|not provided [RCV001587310]	likely benign\|uncertain significance	16	51141745	51141745	Human	3	name , trait , alternate_id
150338007	CV1166716	single nucleotide variant	NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr)	Townes-Brocks syndrome 1 [RCV001533179]	uncertain significance	16	51140463	51140463	Human	1	name
150418770	CV1198778	single nucleotide variant	NM_002968.3(SALL1):c.2069A>G (p.Lys690Arg)	Inborn genetic diseases [RCV003264065]\|not provided [RCV001576885]	uncertain significance	16	51140153	51140153	Human	1	name
150471385	CV1209537	single nucleotide variant	NM_002968.3(SALL1):c.2315A>G (p.Gln772Arg)	not provided [RCV001588648]	uncertain significance	16	51139907	51139907	Human		name
150508603	CV1214086	single nucleotide variant	NM_002968.3(SALL1):c.1207C>T (p.Pro403Ser)	Townes-Brocks syndrome 1 [RCV002477863]\|not provided [RCV001596607]	uncertain significance	16	51141015	51141015	Human	1	name
150456500	CV1235216	single nucleotide variant	NM_002968.3(SALL1):c.1327G>A (p.Asp443Asn)	Inborn genetic diseases [RCV004968227]\|SALL1-related disorder [RCV003900832]\|not provided [RCV001648632]	benign\|likely benign\|uncertain significance	16	51140895	51140895	Human	2	name , trait , alternate_id
150482508	CV1261632	single nucleotide variant	NM_002968.3(SALL1):c.1565C>T (p.Thr522Met)	Townes syndrome [RCV003594148]\|Townes-Brocks syndrome 1 [RCV002488463]\|not provided [RCV001686235]	benign\|likely benign	16	51140657	51140657	Human	1	name
150551060	CV1292452	single nucleotide variant	NM_002968.3(SALL1):c.2518A>G (p.Thr840Ala)	SALL1-related disorder [RCV003416416]\|not provided [RCV001754059]	uncertain significance	16	51139704	51139704	Human	1	name , trait , alternate_id
150529847	CV1293227	single nucleotide variant	NM_002968.3(SALL1):c.1037C>T (p.Ala346Val)	Townes syndrome [RCV005094929]\|not provided [RCV001756446]	uncertain significance	16	51141185	51141185	Human	1	name
150529852	CV1293228	single nucleotide variant	NM_002968.3(SALL1):c.1510C>A (p.Pro504Thr)	not provided [RCV001756447]	uncertain significance	16	51140712	51140712	Human		name
150540802	CV1298529	single nucleotide variant	NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu)	Inborn genetic diseases [RCV003375354]\|Townes-Brocks syndrome 1 [RCV002477945]\|not provided [RCV001760677]	uncertain significance	16	51141206	51141206	Human	2	name
150528009	CV1301031	single nucleotide variant	NM_002968.3(SALL1):c.2767A>G (p.Thr923Ala)	not provided [RCV001754891]	uncertain significance	16	51139455	51139455	Human		name
150552347	CV1301307	single nucleotide variant	NM_002968.3(SALL1):c.2336T>C (p.Val779Ala)	not provided [RCV001767717]	uncertain significance	16	51139886	51139886	Human		name
151236079	CV1319510	single nucleotide variant	NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe)	Townes-Brocks syndrome 1 [RCV002478028]\|not provided [RCV001797455]	uncertain significance	16	51139284	51139284	Human	1	name
151236138	CV1319569	single nucleotide variant	NM_002968.3(SALL1):c.2493C>G (p.Asp831Glu)	Inborn genetic diseases [RCV004040861]\|not provided [RCV001797514]	uncertain significance	16	51139729	51139729	Human	1	name
151351304	CV1321778	single nucleotide variant	NM_002968.3(SALL1):c.2621A>C (p.Asn874Thr)	not provided [RCV001806271]	uncertain significance	16	51139601	51139601	Human		name
151351442	CV1321810	single nucleotide variant	NM_002968.3(SALL1):c.1069G>A (p.Ala357Thr)	not provided [RCV001806480]	uncertain significance	16	51141153	51141153	Human		name
151349224	CV1324388	deletion	NM_002968.3(SALL1):c.3381del (p.Arg1128fs)	Townes-Brocks syndrome 1 [RCV001808305]	likely pathogenic	16	51138841	51138841	Human	1	name
151732594	CV1336390	single nucleotide variant	NM_002968.3(SALL1):c.1666G>A (p.Gly556Ser)	Congenital anomaly of kidney and urinary tract [RCV001849618]	likely pathogenic	16	51140556	51140556	Human	1	name
151836783	CV1371359	single nucleotide variant	NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln)	SALL1-related disorder [RCV003407946]\|Townes syndrome [RCV001921067]\|Townes-Brocks syndrome 1 [RCV002484501]	uncertain significance	16	51139275	51139275	Human	1	name , trait , alternate_id
151726996	CV1412494	single nucleotide variant	NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser)	Inborn genetic diseases [RCV004044160]\|SALL1-related disorder [RCV003416608]\|Townes syndrome [RCV001945653]\|Townes-Brocks syndrome 1 [RCV002484567]	uncertain significance	16	51139265	51139265	Human	2	name , trait , alternate_id
151828191	CV1465356	single nucleotide variant	NM_002968.3(SALL1):c.1892C>T (p.Thr631Ile)	Inborn genetic diseases [RCV004046679]\|Townes syndrome [RCV002014046]	uncertain significance	16	51140330	51140330	Human	2	name
151725895	CV1482187	single nucleotide variant	NM_002968.3(SALL1):c.2852C>T (p.Ala951Val)	Townes syndrome [RCV002020772]\|Townes-Brocks syndrome 1 [RCV002479792]	uncertain significance	16	51139370	51139370	Human	1	name
151740890	CV1500962	single nucleotide variant	NM_002968.3(SALL1):c.2461C>G (p.Leu821Val)	Townes syndrome [RCV001985232]	uncertain significance	16	51139761	51139761	Human	1	name
151798416	CV1503933	single nucleotide variant	NM_002968.3(SALL1):c.2452T>G (p.Phe818Val)	SALL1-related disorder [RCV004752119]\|Townes syndrome [RCV001973683]	uncertain significance	16	51139770	51139770	Human	1	name , trait , alternate_id
152154719	CV1667962	single nucleotide variant	NM_002968.3(SALL1):c.1441A>G (p.Ile481Val)	not provided [RCV002221856]	uncertain significance	16	51140781	51140781	Human		name
152977867	CV1671223	single nucleotide variant	NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg)	Townes-Brocks syndrome 1 [RCV002226897]	uncertain significance	16	51140447	51140447	Human	1	name
152981815	CV1677105	single nucleotide variant	NM_002968.3(SALL1):c.1301C>T (p.Thr434Ile)	not specified [RCV002248174]	uncertain significance	16	51140921	51140921	Human		name
152981816	CV1677106	single nucleotide variant	NM_002968.3(SALL1):c.1007G>C (p.Gly336Ala)	not specified [RCV002248175]	uncertain significance	16	51141215	51141215	Human		name
153345656	CV1691271	single nucleotide variant	NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn)	Townes-Brocks syndrome 1 [RCV002272752]	uncertain significance	16	51140444	51140444	Human	1	name
155266787	CV1696378	single nucleotide variant	NM_002968.3(SALL1):c.2983C>G (p.Arg995Gly)	not provided [RCV002281236]	uncertain significance	16	51139239	51139239	Human		name
155267078	CV1696489	single nucleotide variant	NM_002968.3(SALL1):c.1405C>G (p.Arg469Gly)	not provided [RCV002281347]	uncertain significance	16	51140817	51140817	Human		name
155267234	CV1696572	single nucleotide variant	NM_002968.3(SALL1):c.1112C>G (p.Ser371Ter)	not provided [RCV002281430]	pathogenic	16	51141110	51141110	Human		name
155268356	CV1701763	single nucleotide variant	NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter)	Townes-Brocks syndrome 1 [RCV002283994]	pathogenic	16	51140994	51140994	Human	1	name
155803631	CV1858194	single nucleotide variant	NM_002968.3(SALL1):c.1784C>T (p.Ser595Phe)	not provided [RCV002462503]	uncertain significance	16	51140438	51140438	Human		name
155798242	CV1860624	single nucleotide variant	NM_002968.3(SALL1):c.1732A>G (p.Ile578Val)	not provided [RCV002467266]	uncertain significance	16	51140490	51140490	Human		name
156406976	CV1878512	single nucleotide variant	NM_002968.3(SALL1):c.1954G>A (p.Ala652Thr)	Townes syndrome [RCV003070678]	uncertain significance	16	51140268	51140268	Human	1	name
156391756	CV1879666	single nucleotide variant	NM_002968.3(SALL1):c.2863G>A (p.Glu955Lys)	Townes syndrome [RCV003068108]	uncertain significance	16	51139359	51139359	Human	1	name
156244445	CV1894011	single nucleotide variant	NM_002968.3(SALL1):c.1225A>G (p.Ile409Val)	Townes syndrome [RCV003085868]	likely benign\|uncertain significance	16	51140997	51140997	Human	1	name
156378920	CV1903199	single nucleotide variant	NM_002968.3(SALL1):c.1754C>T (p.Thr585Ile)	Townes syndrome [RCV003093111]	uncertain significance	16	51140468	51140468	Human	1	name
156370803	CV1905326	single nucleotide variant	NM_002968.3(SALL1):c.2870C>G (p.Ala957Gly)	Townes syndrome [RCV003092410]	likely benign	16	51139352	51139352	Human	1	name
156288301	CV1907577	single nucleotide variant	NM_002968.3(SALL1):c.2563C>T (p.Pro855Ser)	Townes syndrome [RCV003087375]	uncertain significance	16	51139659	51139659	Human	1	name
10050714	CV192347	single nucleotide variant	NM_002968.3(SALL1):c.2549G>C (p.Ser850Thr)	not provided [RCV000175741]	uncertain significance	16	51139673	51139673	Human		name
10050716	CV192349	single nucleotide variant	NM_002968.3(SALL1):c.1144A>G (p.Ser382Gly)	not provided [RCV000175743]	uncertain significance	16	51141078	51141078	Human		name
156367769	CV1925783	single nucleotide variant	NM_002968.3(SALL1):c.2030G>C (p.Gly677Ala)	Townes syndrome [RCV002633141]	uncertain significance	16	51140192	51140192	Human	1	name
155974243	CV1974988	single nucleotide variant	NM_002968.3(SALL1):c.2130C>G (p.Ile710Met)	Townes syndrome [RCV002617319]	uncertain significance	16	51140092	51140092	Human	1	name
156160815	CV1977788	single nucleotide variant	NM_002968.3(SALL1):c.2393T>G (p.Val798Gly)	Townes syndrome [RCV002594461]\|not provided [RCV004820260]	uncertain significance	16	51139829	51139829	Human	1	name
156381909	CV1994922	single nucleotide variant	NM_002968.3(SALL1):c.2117A>G (p.Asn706Ser)	Townes syndrome [RCV002653722]\|not provided [RCV003322923]	uncertain significance	16	51140105	51140105	Human	1	name
156331321	CV2000562	single nucleotide variant	NM_002968.3(SALL1):c.2204A>G (p.Lys735Arg)	Townes syndrome [RCV002649835]	uncertain significance	16	51140018	51140018	Human	1	name
156376733	CV2024791	single nucleotide variant	NM_002968.3(SALL1):c.1199C>T (p.Ser400Leu)	Townes syndrome [RCV002721986]	likely benign	16	51141023	51141023	Human	1	name
155978465	CV2028569	single nucleotide variant	NM_002968.3(SALL1):c.1135G>T (p.Ala379Ser)	Townes syndrome [RCV002755212]\|not specified [RCV005059009]	likely benign\|uncertain significance	16	51141087	51141087	Human	1	name
155953731	CV2033264	single nucleotide variant	NM_002968.3(SALL1):c.1583A>G (p.Tyr528Cys)	Inborn genetic diseases [RCV004958730]\|Townes syndrome [RCV002730816]	uncertain significance	16	51140639	51140639	Human	2	name
156032364	CV2037013	single nucleotide variant	NM_002968.3(SALL1):c.1636C>G (p.Pro546Ala)	Townes syndrome [RCV002781163]	uncertain significance	16	51140586	51140586	Human	1	name
155908072	CV2052483	single nucleotide variant	NM_002968.3(SALL1):c.1417G>T (p.Gly473Ter)	Townes syndrome [RCV002837503]	pathogenic	16	51140805	51140805	Human	1	name
156219408	CV2107230	single nucleotide variant	NM_002968.3(SALL1):c.1955C>T (p.Ala652Val)	Townes syndrome [RCV002918501]	uncertain significance	16	51140267	51140267	Human	1	name
156016506	CV2114474	single nucleotide variant	NM_002968.3(SALL1):c.2018A>G (p.Lys673Arg)	Townes syndrome [RCV002909393]	uncertain significance	16	51140204	51140204	Human	1	name
155940107	CV2119769	single nucleotide variant	NM_002968.3(SALL1):c.1556A>G (p.Asn519Ser)	Townes syndrome [RCV002971222]	uncertain significance	16	51140666	51140666	Human	1	name
156249125	CV2119865	single nucleotide variant	NM_002968.3(SALL1):c.1210A>C (p.Ser404Arg)	Townes syndrome [RCV002959144]\|not provided [RCV003128957]	uncertain significance	16	51141012	51141012	Human	1	name
156250250	CV2130011	single nucleotide variant	NM_002968.3(SALL1):c.2105C>T (p.Ala702Val)	Townes syndrome [RCV002959184]	likely benign	16	51140117	51140117	Human	1	name
156364403	CV2130494	single nucleotide variant	NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys)	Inborn genetic diseases [RCV004068309]\|Townes syndrome [RCV002967193]\|Townes-Brocks syndrome 1 [RCV003138418]	uncertain significance	16	51139953	51139953	Human	2	name
156027222	CV2131395	single nucleotide variant	NM_002968.3(SALL1):c.1589T>G (p.Met530Arg)	Townes syndrome [RCV002976444]	uncertain significance	16	51140633	51140633	Human	1	name
156143875	CV2134298	single nucleotide variant	NM_002968.3(SALL1):c.1921G>A (p.Val641Ile)	Townes syndrome [RCV002982414]	uncertain significance	16	51140301	51140301	Human	1	name
10449977	CV215518	single nucleotide variant	NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp)	Townes syndrome [RCV000871312]\|not provided [RCV001675668]\|not specified [RCV000203210]	likely pathogenic\|benign\|likely benign	16	51140344	51140344	Human	1	name
156126405	CV2158471	single nucleotide variant	NM_002968.3(SALL1):c.1948G>A (p.Gly650Ser)	Inborn genetic diseases [RCV003022002]\|Townes syndrome [RCV003022003]\|not provided [RCV003427545]	likely benign\|uncertain significance	16	51140274	51140274	Human	2	name
156062254	CV2203497	single nucleotide variant	NM_002968.3(SALL1):c.1807A>G (p.Arg603Gly)	Inborn genetic diseases [RCV002659749]	uncertain significance	16	51140415	51140415	Human	1	name
156191633	CV2223118	single nucleotide variant	NM_002968.3(SALL1):c.1217T>C (p.Leu406Ser)	Inborn genetic diseases [RCV002742879]	uncertain significance	16	51141005	51141005	Human	1	name
156291030	CV2226268	single nucleotide variant	NM_002968.3(SALL1):c.2923A>G (p.Ser975Gly)	Inborn genetic diseases [RCV002747777]	uncertain significance	16	51139299	51139299	Human	1	name
8559907	CV22466	single nucleotide variant	NM_002968.3(SALL1):c.1115C>A (p.Ser372Ter)	Townes-Brocks syndrome 1 [RCV000007852]	pathogenic	16	51141107	51141107	Human	1	name
8559909	CV22468	single nucleotide variant	NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter)	Townes-Brocks syndrome 1 [RCV000007854]\|not provided [RCV005416318]	pathogenic	16	51141107	51141107	Human	1	name
8559915	CV22474	single nucleotide variant	NM_002968.3(SALL1):c.1256T>A (p.Leu419Ter)	Townes-Brocks syndrome 1 [RCV000007860]	pathogenic	16	51140966	51140966	Human	1	name
155985972	CV2247923	single nucleotide variant	NM_002968.3(SALL1):c.2186C>A (p.Thr729Asn)	Inborn genetic diseases [RCV002778135]	uncertain significance	16	51140036	51140036	Human	1	name
156206027	CV2311505	single nucleotide variant	NM_002968.3(SALL1):c.2273C>A (p.Ala758Asp)	Inborn genetic diseases [RCV002893454]\|not provided [RCV005414669]	uncertain significance	16	51139949	51139949	Human	1	name
156159699	CV2322761	single nucleotide variant	NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp)	Inborn genetic diseases [RCV002955176]\|Townes syndrome [RCV003594313]	likely benign\|uncertain significance	16	51139718	51139718	Human	2	name
156266101	CV2329582	single nucleotide variant	NM_002968.3(SALL1):c.2968T>C (p.Phe990Leu)	Inborn genetic diseases [RCV002960053]	uncertain significance	16	51139254	51139254	Human	1	name
156255806	CV2359484	single nucleotide variant	NM_002968.3(SALL1):c.1257G>T (p.Leu419Phe)	Inborn genetic diseases [RCV002988254]\|not provided [RCV004725620]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51140965	51140965	Human	1	name
156209479	CV2370113	single nucleotide variant	NM_002968.3(SALL1):c.2873A>G (p.Asn958Ser)	Inborn genetic diseases [RCV003006696]\|Townes-Brocks syndrome 1 [RCV005399218]	uncertain significance	16	51139349	51139349	Human	2	name
243051727	CV2415963	single nucleotide variant	NM_002968.3(SALL1):c.2605C>G (p.Gln869Glu)	Townes-Brocks syndrome 1 [RCV003148587]	uncertain significance	16	51139617	51139617	Human	1	name
329363527	CV2442267	single nucleotide variant	NM_002968.3(SALL1):c.1771G>A (p.Val591Ile)	Inborn genetic diseases [RCV003181342]	uncertain significance	16	51140451	51140451	Human	1	name
329397400	CV2460235	single nucleotide variant	NM_002968.3(SALL1):c.1027A>G (p.Ile343Val)	Inborn genetic diseases [RCV003195509]	uncertain significance	16	51141195	51141195	Human	1	name
329352285	CV2476640	single nucleotide variant	NM_002968.3(SALL1):c.2986G>A (p.Gly996Ser)	not provided [RCV003222872]	likely benign	16	51139236	51139236	Human		name
11545284	CV255795	single nucleotide variant	NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu)	SALL1-related disorder [RCV003891913]\|Townes syndrome [RCV000864308]\|not provided [RCV001711693]\|not specified [RCV000244926]	benign\|likely benign	16	51140318	51140318	Human	1	name , trait , alternate_id
11640128	CV265912	single nucleotide variant	NM_002968.3(SALL1):c.1025A>C (p.Asn342Thr)	not provided [RCV000331820]	uncertain significance	16	51141197	51141197	Human		name
329954009	CV2669350	single nucleotide variant	NM_002968.3(SALL1):c.2112C>A (p.Asp704Glu)	not provided [RCV003231857]	uncertain significance	16	51140110	51140110	Human		name
11578921	CV268862	single nucleotide variant	NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn)	Inborn genetic diseases [RCV002519157]\|SALL1-related disorder [RCV003967740]\|Townes syndrome [RCV003758745]\|not provided [RCV000864422]\|not specified [RCV000301654]	benign\|likely benign\|uncertain significance	16	51140900	51140900	Human	2	name , trait , alternate_id
11636864	CV268968	single nucleotide variant	NM_002968.3(SALL1):c.2825C>A (p.Pro942His)	not provided [RCV001288382]\|not specified [RCV000276120]	likely benign\|uncertain significance	16	51139397	51139397	Human		name
401734916	CV2690713	single nucleotide variant	NM_002968.3(SALL1):c.2360T>C (p.Met787Thr)	Inborn genetic diseases [RCV003249613]	uncertain significance	16	51139862	51139862	Human	1	name
11639098	CV270600	single nucleotide variant	NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser)	Inborn genetic diseases [RCV005268584]\|SALL1-related disorder [RCV003977782]\|Townes syndrome [RCV003114449]\|not provided [RCV001610780]\|not specified [RCV000315235]	benign\|likely benign\|uncertain significance	16	51140319	51140319	Human	2	name , trait , alternate_id
401752280	CV2706796	single nucleotide variant	NM_002968.3(SALL1):c.1895A>G (p.Asn632Ser)	Inborn genetic diseases [RCV003277306]	likely benign	16	51140327	51140327	Human	1	name
401744023	CV2722364	single nucleotide variant	NM_002968.3(SALL1):c.2170C>T (p.His724Tyr)	Inborn genetic diseases [RCV003293210]	uncertain significance	16	51140052	51140052	Human	1	name
401763735	CV2725276	single nucleotide variant	NM_002968.3(SALL1):c.2941A>G (p.Ile981Val)	Inborn genetic diseases [RCV003258312]	uncertain significance	16	51139281	51139281	Human	1	name
11637632	CV273535	single nucleotide variant	NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu)	Townes-Brocks syndrome 1 [RCV002502147]\|not provided [RCV000289286]	uncertain significance	16	51140893	51140893	Human	1	name
11638849	CV273934	single nucleotide variant	NM_002968.3(SALL1):c.1715C>T (p.Thr572Met)	Townes syndrome [RCV002518098]\|not provided [RCV000311105]	conflicting interpretations of pathogenicity\|uncertain significance	16	51140507	51140507	Human	1	name
401798733	CV2739460	single nucleotide variant	NM_002968.3(SALL1):c.1663G>T (p.Val555Phe)	not provided [RCV003319108]	uncertain significance	16	51140559	51140559	Human		name
401797062	CV2740010	single nucleotide variant	NM_002968.3(SALL1):c.1240G>T (p.Glu414Ter)	Townes syndrome [RCV003319972]	pathogenic	16	51140982	51140982	Human	1	name
401796528	CV2740693	single nucleotide variant	NM_002968.3(SALL1):c.1160C>T (p.Ala387Val)	not provided [RCV003321363]	uncertain significance	16	51141062	51141062	Human		name
401869469	CV2772413	single nucleotide variant	NM_002968.3(SALL1):c.2633C>A (p.Ala878Glu)	Inborn genetic diseases [RCV003345810]	uncertain significance	16	51139589	51139589	Human	1	name
401877796	CV2786794	single nucleotide variant	NM_002968.3(SALL1):c.2627G>A (p.Gly876Asp)	Inborn genetic diseases [RCV003383898]	uncertain significance	16	51139595	51139595	Human	1	name
401936366	CV2800699	single nucleotide variant	NM_002968.3(SALL1):c.1867A>G (p.Lys623Glu)	SALL1-related disorder [RCV003414347]	uncertain significance	16	51140355	51140355	Human		name , trait , alternate_id
401934922	CV2800734	single nucleotide variant	NM_002968.3(SALL1):c.1568G>A (p.Ser523Asn)	SALL1-related disorder [RCV003412359]	uncertain significance	16	51140654	51140654	Human		name , trait , alternate_id
401933960	CV2802474	single nucleotide variant	NM_002968.3(SALL1):c.1991C>T (p.Pro664Leu)	SALL1-related disorder [RCV003410842]\|Townes syndrome [RCV003594667]	uncertain significance	16	51140231	51140231	Human	1	name , trait , alternate_id
401911675	CV2807937	single nucleotide variant	NM_002968.3(SALL1):c.2431G>C (p.Gly811Arg)	not provided [RCV003426704]	uncertain significance	16	51139791	51139791	Human		name
401934480	CV2807938	single nucleotide variant	NM_002968.3(SALL1):c.2070G>C (p.Lys690Asn)	not provided [RCV003411349]	uncertain significance	16	51140152	51140152	Human		name
401911676	CV2807939	single nucleotide variant	NM_002968.3(SALL1):c.1252T>G (p.Ser418Ala)	not provided [RCV003426705]	uncertain significance	16	51140970	51140970	Human		name
405074437	CV2859631	single nucleotide variant	NM_002968.3(SALL1):c.1309G>T (p.Glu437Ter)	Townes syndrome [RCV003594962]	pathogenic	16	51140913	51140913	Human	1	name
405073971	CV2862201	single nucleotide variant	NM_002968.3(SALL1):c.2582C>T (p.Ser861Leu)	Townes syndrome [RCV003594907]	uncertain significance	16	51139640	51139640	Human	1	name
405071255	CV2864102	single nucleotide variant	NM_002968.3(SALL1):c.1183C>T (p.Gln395Ter)	Townes syndrome [RCV003594741]	pathogenic	16	51141039	51141039	Human	1	name
405077532	CV2879734	single nucleotide variant	NM_002968.3(SALL1):c.2929G>A (p.Ala977Thr)	Inborn genetic diseases [RCV005273718]\|Townes syndrome [RCV003595195]\|not provided [RCV004794646]	likely benign\|uncertain significance	16	51139293	51139293	Human	2	name
405080688	CV2882787	single nucleotide variant	NM_002968.3(SALL1):c.2104G>A (p.Ala702Thr)	Townes syndrome [RCV003595476]	uncertain significance	16	51140118	51140118	Human	1	name
405078705	CV2891073	single nucleotide variant	NM_002968.3(SALL1):c.2780A>G (p.Gln927Arg)	Townes syndrome [RCV003595301]	uncertain significance	16	51139442	51139442	Human	1	name
405067852	CV2928496	single nucleotide variant	NM_002968.3(SALL1):c.1871G>A (p.Ser624Asn)	Townes syndrome [RCV003594442]	likely benign	16	51140351	51140351	Human	1	name
405184830	CV2937444	single nucleotide variant	NM_002968.3(SALL1):c.2416A>G (p.Met806Val)	Townes syndrome [RCV003759941]	uncertain significance	16	51139806	51139806	Human	1	name
405185223	CV2941959	single nucleotide variant	NM_002968.3(SALL1):c.2195G>A (p.Arg732Lys)	Townes syndrome [RCV003760012]	uncertain significance	16	51140027	51140027	Human	1	name
405192341	CV2974280	single nucleotide variant	NM_002968.3(SALL1):c.1234A>G (p.Thr412Ala)	Townes syndrome [RCV003760740]	uncertain significance	16	51140988	51140988	Human	1	name
405192881	CV2977219	single nucleotide variant	NM_002968.3(SALL1):c.2555C>G (p.Ser852Cys)	Townes syndrome [RCV003760935]	uncertain significance	16	51139667	51139667	Human	1	name
405192779	CV2980752	single nucleotide variant	NM_002968.3(SALL1):c.2882C>T (p.Ser961Phe)	Townes syndrome [RCV003760922]	uncertain significance	16	51139340	51139340	Human	1	name
405172891	CV2991610	single nucleotide variant	NM_002968.3(SALL1):c.2800A>G (p.Ser934Gly)	Townes syndrome [RCV003758329]	uncertain significance	16	51139422	51139422	Human	1	name
405173182	CV2993596	single nucleotide variant	NM_002968.3(SALL1):c.1763C>A (p.Pro588Gln)	Townes syndrome [RCV003758449]	uncertain significance	16	51140459	51140459	Human	1	name
405189171	CV3070518	single nucleotide variant	NM_002968.3(SALL1):c.2027T>C (p.Phe676Ser)	Townes syndrome [RCV003760488]	uncertain significance	16	51140195	51140195	Human	1	name
405189795	CV3076588	single nucleotide variant	NM_002968.3(SALL1):c.1329T>G (p.Asp443Glu)	Townes syndrome [RCV003760569]	uncertain significance	16	51140893	51140893	Human	1	name
405056100	CV3077292	single nucleotide variant	NM_002968.3(SALL1):c.1306T>G (p.Phe436Val)	Townes syndrome [RCV003761139]	uncertain significance	16	51140916	51140916	Human	1	name
405064701	CV3144765	single nucleotide variant	NM_002968.3(SALL1):c.1458C>G (p.Phe486Leu)	Townes syndrome [RCV003850542]	uncertain significance	16	51140764	51140764	Human	1	name
402464609	CV3177080	single nucleotide variant	NM_002968.3(SALL1):c.1364C>G (p.Ala455Gly)	Townes syndrome [RCV003872711]\|not specified [RCV005240972]	likely benign\|uncertain significance	16	51140858	51140858	Human	1	name
405261354	CV3186173	single nucleotide variant	NM_002968.3(SALL1):c.2803A>T (p.Thr935Ser)	not provided [RCV003885249]	likely benign	16	51139419	51139419	Human		name
405262782	CV3189412	single nucleotide variant	NM_002968.3(SALL1):c.2638C>G (p.Gln880Glu)	SALL1-related disorder [RCV003896646]	uncertain significance	16	51139584	51139584	Human		name , trait , alternate_id
405264748	CV3190078	single nucleotide variant	NM_002968.3(SALL1):c.1610C>G (p.Pro537Arg)	SALL1-related disorder [RCV003897117]	uncertain significance	16	51140612	51140612	Human		name , trait , alternate_id
405257445	CV3201512	single nucleotide variant	NM_002968.3(SALL1):c.1837G>A (p.Glu613Lys)	SALL1-related disorder [RCV003892293]	uncertain significance	16	51140385	51140385	Human		name , trait , alternate_id
11620071	CV325631	single nucleotide variant	NM_002968.3(SALL1):c.2008T>C (p.Phe670Leu)	SALL1-related disorder [RCV003968465]\|not provided [RCV001680962]	benign\|likely benign	16	51140214	51140214	Human	1	name , trait , alternate_id
405721411	CV3310310	single nucleotide variant	NM_002968.3(SALL1):c.1093G>T (p.Val365Phe)	Inborn genetic diseases [RCV004449867]	uncertain significance	16	51141129	51141129	Human	1	name
405721418	CV3310311	single nucleotide variant	NM_002968.3(SALL1):c.1106C>T (p.Ala369Val)	Inborn genetic diseases [RCV004449868]	uncertain significance	16	51141116	51141116	Human	1	name
405721431	CV3310313	single nucleotide variant	NM_002968.3(SALL1):c.1594A>G (p.Ile532Val)	Inborn genetic diseases [RCV004449870]	uncertain significance	16	51140628	51140628	Human	1	name
405721439	CV3310314	single nucleotide variant	NM_002968.3(SALL1):c.2044T>C (p.Ser682Pro)	Inborn genetic diseases [RCV004449871]	uncertain significance	16	51140178	51140178	Human	1	name
405721449	CV3310315	single nucleotide variant	NM_002968.3(SALL1):c.2536G>A (p.Ala846Thr)	Inborn genetic diseases [RCV004449872]	uncertain significance	16	51139686	51139686	Human	1	name
405721464	CV3310317	single nucleotide variant	NM_002968.3(SALL1):c.2924G>A (p.Ser975Asn)	Inborn genetic diseases [RCV004449874]	uncertain significance	16	51139298	51139298	Human	1	name
11616705	CV335274	single nucleotide variant	NM_002968.2(SALL1):c.2557T>G (p.Ser853Ala)	Townes-Brocks syndrome 1 [RCV000297267]	uncertain significance	16	51139665	51139665	Human		name
11612691	CV335275	single nucleotide variant	NM_002968.2(SALL1):c.2399A>G (p.Asp800Gly)	Townes-Brocks syndrome 1 [RCV000261863]	uncertain significance	16	51139823	51139823	Human		name
407424792	CV3410933	single nucleotide variant	NM_002968.3(SALL1):c.2282C>T (p.Pro761Leu)	not provided [RCV004588623]\|not specified [RCV005059585]	uncertain significance	16	51139940	51139940	Human		name
407427568	CV3411944	single nucleotide variant	NM_002968.3(SALL1):c.2804C>T (p.Thr935Met)	SALL1-related disorder [RCV004750969]\|not provided [RCV004592115]	uncertain significance	16	51139418	51139418	Human	1	name , trait , alternate_id
407429261	CV3413672	single nucleotide variant	NM_002968.3(SALL1):c.1606A>T (p.Lys536Ter)	Townes-Brocks syndrome 1 [RCV004595081]	pathogenic	16	51140616	51140616	Human	1	name
11624812	CV341758	single nucleotide variant	NM_002968.3(SALL1):c.1006G>A (p.Gly336Ser)	Inborn genetic diseases [RCV005269222]\|Townes syndrome [RCV005208052]	likely benign\|uncertain significance	16	51141216	51141216	Human	2	name
11624236	CV343248	single nucleotide variant	NM_002968.2(SALL1):c.1502A>G (p.Glu501Gly)	Townes-Brocks syndrome 1 [RCV000383660]	uncertain significance	16	51140720	51140720	Human		name
11657236	CV343249	single nucleotide variant	NM_002968.2(SALL1):c.1321A>G (p.Thr441Ala)	Townes-Brocks syndrome 1 [RCV000339917]	uncertain significance	16	51140901	51140901	Human		name
407514183	CV3483500	single nucleotide variant	NM_002968.3(SALL1):c.1910C>T (p.Ala637Val)	Inborn genetic diseases [RCV004674439]	uncertain significance	16	51140312	51140312	Human	1	name
407514187	CV3483502	single nucleotide variant	NM_002968.3(SALL1):c.2450A>G (p.Asn817Ser)	Inborn genetic diseases [RCV004674441]	uncertain significance	16	51139772	51139772	Human	1	name
407469078	CV3483504	single nucleotide variant	NM_002968.3(SALL1):c.2365A>G (p.Met789Val)	Inborn genetic diseases [RCV004661355]	uncertain significance	16	51139857	51139857	Human	1	name
407469085	CV3483507	single nucleotide variant	NM_002968.3(SALL1):c.1631C>G (p.Thr544Ser)	Inborn genetic diseases [RCV004661358]	uncertain significance	16	51140591	51140591	Human	1	name
407506876	CV3496202	duplication	NM_002968.3(SALL1):c.3153dup (p.Gln1052fs)	not provided [RCV004698043]	likely pathogenic	16	51139068	51139069	Human		name
407573669	CV3498036	single nucleotide variant	NM_002968.3(SALL1):c.2222G>A (p.Arg741Gln)	not provided [RCV004702022]	uncertain significance	16	51140000	51140000	Human		name
408384707	CV3503365	single nucleotide variant	NM_002968.3(SALL1):c.2778G>A (p.Met926Ile)	SALL1-related disorder [RCV004732038]	uncertain significance	16	51139444	51139444	Human		name , trait , alternate_id
408378885	CV3517431	single nucleotide variant	NM_002968.3(SALL1):c.1786G>A (p.Gly596Arg)	SALL1-related disorder [RCV004752488]	uncertain significance	16	51140436	51140436	Human		name , trait , alternate_id
408390401	CV3519306	single nucleotide variant	NM_002968.3(SALL1):c.2814C>G (p.Phe938Leu)	not provided [RCV004762615]	uncertain significance	16	51139408	51139408	Human		name
408394725	CV3522046	single nucleotide variant	NM_002968.3(SALL1):c.1741A>C (p.Ser581Arg)	Townes-Brocks syndrome 1 [RCV004764834]	uncertain significance	16	51140481	51140481	Human	1	name
408389504	CV3529402	single nucleotide variant	NM_002968.3(SALL1):c.1532A>G (p.Tyr511Cys)	not provided [RCV004774224]	uncertain significance	16	51140690	51140690	Human		name
596929436	CV3531065	single nucleotide variant	NM_002968.3(SALL1):c.2804C>G (p.Thr935Arg)	not provided [RCV004779639]	uncertain significance	16	51139418	51139418	Human		name
596944393	CV3543382	single nucleotide variant	NM_002968.3(SALL1):c.2428A>G (p.Thr810Ala)	not provided [RCV004801503]	uncertain significance	16	51139794	51139794	Human		name
597632228	CV3594580	single nucleotide variant	NM_002968.3(SALL1):c.1839A>C (p.Glu613Asp)	Inborn genetic diseases [RCV004968714]	uncertain significance	16	51140383	51140383	Human	1	name
597728751	CV3594583	single nucleotide variant	NM_002968.3(SALL1):c.2849G>C (p.Arg950Thr)	Inborn genetic diseases [RCV004962637]	uncertain significance	16	51139373	51139373	Human	1	name
597728764	CV3594588	single nucleotide variant	NM_002968.3(SALL1):c.2753C>A (p.Ala918Asp)	Inborn genetic diseases [RCV004962640]	uncertain significance	16	51139469	51139469	Human	1	name
597728769	CV3594589	single nucleotide variant	NM_002968.3(SALL1):c.2003A>G (p.Glu668Gly)	Inborn genetic diseases [RCV004962641]	uncertain significance	16	51140219	51140219	Human	1	name
597632238	CV3594591	single nucleotide variant	NM_002968.3(SALL1):c.2816A>G (p.His939Arg)	Inborn genetic diseases [RCV004968717]	uncertain significance	16	51139406	51139406	Human	1	name
597632241	CV3594593	single nucleotide variant	NM_002968.3(SALL1):c.2791C>G (p.Pro931Ala)	Inborn genetic diseases [RCV004968718]	uncertain significance	16	51139431	51139431	Human	1	name
597728779	CV3594594	single nucleotide variant	NM_002968.3(SALL1):c.1868A>G (p.Lys623Arg)	Inborn genetic diseases [RCV004962643]	uncertain significance	16	51140354	51140354	Human	1	name
597632243	CV3594595	single nucleotide variant	NM_002968.3(SALL1):c.2699A>G (p.Asn900Ser)	Inborn genetic diseases [RCV004968719]\|Townes syndrome [RCV005107821]	uncertain significance	16	51139523	51139523	Human	2	name
12742684	CV360289	single nucleotide variant	NM_002968.3(SALL1):c.1393C>T (p.Gln465Ter)	not provided [RCV000414232]	pathogenic	16	51140829	51140829	Human		name
597930267	CV3704821	single nucleotide variant	NM_002968.3(SALL1):c.2920T>C (p.Ser974Pro)	Townes syndrome [RCV005206567]\|not provided [RCV005422587]	uncertain significance	16	51139302	51139302	Human	1	name
598208212	CV3704833	single nucleotide variant	NM_002968.3(SALL1):c.2645A>T (p.Gln882Leu)	Inborn genetic diseases [RCV005270193]	uncertain significance	16	51139577	51139577	Human	1	name
597886258	CV3704865	single nucleotide variant	NM_002968.3(SALL1):c.1052C>T (p.Pro351Leu)	Townes syndrome [RCV005150582]	uncertain significance	16	51141170	51141170	Human	1	name
597867679	CV3739129	single nucleotide variant	NM_002968.3(SALL1):c.1276A>G (p.Arg426Gly)	Townes syndrome [RCV005068196]	uncertain significance	16	51140946	51140946	Human	1	name
597849336	CV3746689	single nucleotide variant	NM_002968.3(SALL1):c.2338G>A (p.Val780Ile)	Townes syndrome [RCV005066086]	uncertain significance	16	51139884	51139884	Human	1	name
12845989	CV375206	single nucleotide variant	NM_002968.3(SALL1):c.1405C>T (p.Arg469Cys)	not provided [RCV000440800]	uncertain significance	16	51140817	51140817	Human		name
597890627	CV3762899	single nucleotide variant	NM_002968.3(SALL1):c.2828G>C (p.Ser943Thr)	Townes syndrome [RCV005110672]	uncertain significance	16	51139394	51139394	Human	1	name
597918196	CV3767986	single nucleotide variant	NM_002968.3(SALL1):c.1214C>T (p.Pro405Leu)	Townes syndrome [RCV005114787]	uncertain significance	16	51141008	51141008	Human	1	name
597887633	CV3787515	single nucleotide variant	NM_002968.3(SALL1):c.1199C>A (p.Ser400Ter)	Townes syndrome [RCV005125081]	pathogenic	16	51141023	51141023	Human	1	name
597960664	CV3794716	single nucleotide variant	NM_002968.3(SALL1):c.1757G>A (p.Ser586Asn)	Townes syndrome [RCV005138621]	uncertain significance	16	51140465	51140465	Human	1	name
597975596	CV3828592	single nucleotide variant	NM_002968.3(SALL1):c.2831T>C (p.Ile944Thr)	Townes syndrome [RCV005169221]	uncertain significance	16	51139391	51139391	Human	1	name
597926817	CV3836840	single nucleotide variant	NM_002968.3(SALL1):c.1664T>A (p.Val555Asp)	Townes syndrome [RCV005185191]	uncertain significance	16	51140558	51140558	Human	1	name
597921385	CV3839437	single nucleotide variant	NM_002968.3(SALL1):c.1828G>C (p.Glu610Gln)	Townes syndrome [RCV005184369]	likely benign	16	51140394	51140394	Human	1	name
597935965	CV3845342	single nucleotide variant	NM_002968.3(SALL1):c.2384A>G (p.Asn795Ser)	Townes syndrome [RCV005186655]	likely benign	16	51139838	51139838	Human	1	name
597905341	CV3846516	single nucleotide variant	NM_002968.3(SALL1):c.2002G>A (p.Glu668Lys)	Townes syndrome [RCV005181943]	uncertain significance	16	51140220	51140220	Human	1	name
597889996	CV3856070	single nucleotide variant	NM_002968.3(SALL1):c.2801G>A (p.Ser934Asn)	Townes syndrome [RCV005200315]	uncertain significance	16	51139421	51139421	Human	1	name
598125017	CV3883773	deletion	NM_002968.3(SALL1):c.3417del (p.Cys1139fs)	not provided [RCV005236128]	likely pathogenic	16	51138805	51138805	Human		name
598124733	CV3885362	single nucleotide variant	NM_002968.3(SALL1):c.1033G>A (p.Ala345Thr)	not specified [RCV005239939]	uncertain significance	16	51141189	51141189	Human		name
598127366	CV3888157	single nucleotide variant	NM_002968.3(SALL1):c.2494T>C (p.Cys832Arg)	not provided [RCV005242843]	uncertain significance	16	51139728	51139728	Human		name
598172584	CV3890850	single nucleotide variant	NM_002968.3(SALL1):c.2357G>A (p.Arg786Gln)	not provided [RCV005251703]	uncertain significance	16	51139865	51139865	Human		name
598159998	CV3897200	single nucleotide variant	NM_002968.3(SALL1):c.2882C>G (p.Ser961Cys)	not provided [RCV005368174]	uncertain significance	16	51139340	51139340	Human		name
598208198	CV3906461	single nucleotide variant	NM_002968.3(SALL1):c.2372G>A (p.Gly791Asp)	Inborn genetic diseases [RCV005270189]	uncertain significance	16	51139850	51139850	Human	1	name
598208203	CV3906462	single nucleotide variant	NM_002968.3(SALL1):c.1528C>A (p.Pro510Thr)	Inborn genetic diseases [RCV005270190]	uncertain significance	16	51140694	51140694	Human	1	name
598208209	CV3906464	single nucleotide variant	NM_002968.3(SALL1):c.1078G>A (p.Ala360Thr)	Inborn genetic diseases [RCV005270192]	uncertain significance	16	51141144	51141144	Human	1	name
598177053	CV4008234	single nucleotide variant	NM_002968.3(SALL1):c.2125A>T (p.Ile709Phe)	Townes-Brocks syndrome 1 [RCV005393750]	uncertain significance	16	51140097	51140097	Human	1	name
617150739	CV4019207	single nucleotide variant	NM_002968.3(SALL1):c.2063C>T (p.Thr688Met)	not provided [RCV005423615]	uncertain significance	16	51140159	51140159	Human		name
13515825	CV490579	single nucleotide variant	NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser)	Townes-Brocks syndrome 1 [RCV002282256]\|not provided [RCV000594770]	uncertain significance	16	51139944	51139944	Human	1	name
13832462	CV582957	single nucleotide variant	NM_002968.3(SALL1):c.2909T>C (p.Leu970Ser)	not provided [RCV000723151]	uncertain significance	16	51139313	51139313	Human		name
13837127	CV588412	single nucleotide variant	NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr)	Townes syndrome [RCV003758920]\|not provided [RCV000733436]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51139632	51139632	Human	1	name
14696593	CV622116	single nucleotide variant	NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)	Townes syndrome [RCV002535705]\|not provided [RCV000782252]\|not specified [RCV002249483]	benign\|likely benign\|uncertain significance	16	51140484	51140484	Human	1	name
15017053	CV681810	single nucleotide variant	NM_002968.3(SALL1):c.1514A>G (p.His505Arg)	Townes-Brocks syndrome 1 [RCV000855402]	uncertain significance	16	51140708	51140708	Human	1	name
15165006	CV740238	single nucleotide variant	NM_002968.3(SALL1):c.1022T>C (p.Met341Thr)	not provided [RCV000904128]	likely benign	16	51141200	51141200	Human		name
15146250	CV785296	single nucleotide variant	NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr)	Inborn genetic diseases [RCV002550579]\|Townes syndrome [RCV001423298]\|not provided [RCV000983808]	benign\|likely benign\|uncertain significance	16	51139470	51139470	Human	2	name
38597652	CV801909	single nucleotide variant	NM_002968.3(SALL1):c.1762C>T (p.Pro588Ser)	Inborn genetic diseases [RCV002551715]\|Microcephaly [RCV001252901]	uncertain significance	16	51140460	51140460	Human	3	name
25318617	CV805887	duplication	NM_002968.3(SALL1):c.2409dup (p.Glu804Ter)	not provided [RCV001008730]	likely pathogenic	16	51139812	51139813	Human		name
25315001	CV818329	single nucleotide variant	NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)	Townes-Brocks syndrome 1 [RCV001029950]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	16	51140172	51140172	Human	1	name
8627834	CV82978	single nucleotide variant	NM_002968.2(SALL1):c.1015C>T (p.Pro339Ser)	Malignant melanoma [RCV000063058]	not provided	16	51141207	51141207	Human		name
8635833	CV91056	single nucleotide variant	NM_002968.2(SALL1):c.2395C>T (p.Pro799Ser)	Malignant melanoma [RCV000071154]	not provided	16	51139827	51139827	Human		name
38464606	CV961625	single nucleotide variant	NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter)	Townes-Brocks syndrome 1 [RCV001249670]	pathogenic	16	51140349	51140349	Human	1	name
126745891	CV976144	single nucleotide variant	NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg)	Congenital anomaly of kidney and urinary tract [RCV001328263]\|Townes-Brocks syndrome 1 [RCV002471076]	uncertain significance	16	51139376	51139376	Human	2	name
150336949	CV1172851	single nucleotide variant	NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu)	Inborn genetic diseases [RCV003355515]\|SALL1-related disorder [RCV003948575]\|Townes syndrome [RCV002570646]\|not provided [RCV001541299]	benign\|likely benign\|uncertain significance	16	51138900	51138900	Human	2	name , trait , alternate_id
150461405	CV1206456	single nucleotide variant	NM_002968.3(SALL1):c.3068A>C (p.His1023Pro)	not provided [RCV001586857]	uncertain significance	16	51139154	51139154	Human		name
150478336	CV1207648	single nucleotide variant	NM_002968.3(SALL1):c.3242T>C (p.Leu1081Ser)	not provided [RCV001589924]	likely benign	16	51138980	51138980	Human		name
150449660	CV1215138	single nucleotide variant	NM_002968.3(SALL1):c.3380C>T (p.Pro1127Leu)	not provided [RCV001611728]	benign	16	51138842	51138842	Human		name
150486348	CV1251345	single nucleotide variant	NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val)	Townes syndrome [RCV002073148]\|not provided [RCV001674016]	benign\|likely benign	16	51137422	51137422	Human	1	name
150471924	CV1270173	single nucleotide variant	NM_002968.3(SALL1):c.3963C>G (p.Ile1321Met)	Inborn genetic diseases [RCV004953002]\|not provided [RCV001695461]	benign\|uncertain significance	16	51137124	51137124	Human	1	name
150448649	CV1270492	single nucleotide variant	NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala)	SALL1-related disorder [RCV003976010]\|Townes syndrome [RCV002073251]\|Townes-Brocks syndrome 1 [RCV002496012]\|not provided [RCV001691630]	benign\|likely benign	16	51138912	51138912	Human	1	name , trait , alternate_id
150546121	CV1291927	single nucleotide variant	NM_002968.3(SALL1):c.3808G>A (p.Gly1270Arg)	not specified [RCV001732882]	uncertain significance	16	51137279	51137279	Human		name
150555179	CV1296004	single nucleotide variant	NM_002968.3(SALL1):c.3623G>A (p.Gly1208Asp)	not provided [RCV001772513]	uncertain significance	16	51137464	51137464	Human		name
150554125	CV1296513	single nucleotide variant	NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg)	SALL1-related disorder [RCV003968532]\|Townes syndrome [RCV003594149]\|Townes-Brocks syndrome 1 [RCV002496093]\|not provided [RCV001770750]	uncertain significance	16	51137305	51137305	Human	1	name , trait , alternate_id
150551445	CV1297369	single nucleotide variant	NM_002968.3(SALL1):c.3173C>G (p.Ser1058Cys)	not provided [RCV001767051]	uncertain significance	16	51139049	51139049	Human		name
150550010	CV1300004	single nucleotide variant	NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe)	Townes syndrome [RCV005094996]\|Townes-Brocks syndrome 1 [RCV002488566]\|not provided [RCV001765474]	uncertain significance	16	51137456	51137456	Human	1	name
151749619	CV1357194	single nucleotide variant	NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys)	Townes syndrome [RCV001872121]	uncertain significance	16	51137244	51137244	Human	1	name
151811267	CV1371358	single nucleotide variant	NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg)	Inborn genetic diseases [RCV002557708]\|SALL1-related disorder [RCV003416597]\|Townes syndrome [RCV001933223]	uncertain significance	16	51137197	51137197	Human	2	name , trait , alternate_id
151780934	CV1490770	single nucleotide variant	NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser)	Inborn genetic diseases [RCV004656753]\|Townes syndrome [RCV001972074]\|Townes-Brocks syndrome 1 [RCV002491983]	uncertain significance	16	51137359	51137359	Human	2	name
151811535	CV1506751	single nucleotide variant	NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp)	Townes syndrome [RCV001918658]	uncertain significance	16	51138813	51138813	Human	1	name
153346256	CV1691619	single nucleotide variant	NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe)	Townes-Brocks syndrome 1 [RCV002273102]	uncertain significance	16	51138900	51138900	Human	1	name
155265680	CV1695826	single nucleotide variant	NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn)	Inborn genetic diseases [RCV003096316]\|Townes syndrome [RCV003759095]\|not provided [RCV002280558]	uncertain significance	16	51137402	51137402	Human	2	name
156115329	CV2104598	single nucleotide variant	NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe)	Townes syndrome [RCV002927600]	uncertain significance	16	51138875	51138875	Human	1	name
156308193	CV2109301	single nucleotide variant	NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu)	Townes syndrome [RCV002922925]\|not provided [RCV004786777]	uncertain significance	16	51138785	51138785	Human	1	name
156260218	CV2113667	single nucleotide variant	NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys)	Townes syndrome [RCV002933853]	uncertain significance	16	51137150	51137150	Human	1	name
156037332	CV2124587	single nucleotide variant	NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile)	Townes syndrome [RCV002923769]	uncertain significance	16	51139127	51139127	Human	1	name
10449743	CV215517	single nucleotide variant	NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser)	Townes syndrome [RCV000540322]\|Townes-Brocks syndrome 1 [RCV000292562]\|not provided [RCV000992805]\|not specified [RCV000202832]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	51137215	51137215	Human	1	name
10766755	CV216957	single nucleotide variant	NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter)	Townes syndrome [RCV000634152]\|Townes-Brocks syndrome 1 [RCV000203506]\|not provided [RCV002305462]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	16	51139062	51139062	Human	1	name
155981210	CV2212208	single nucleotide variant	NM_002968.3(SALL1):c.3781C>T (p.Pro1261Ser)	Inborn genetic diseases [RCV002688385]	uncertain significance	16	51137306	51137306	Human	1	name
156111796	CV2353368	single nucleotide variant	NM_002968.3(SALL1):c.3737C>T (p.Ala1246Val)	Inborn genetic diseases [RCV002980648]	uncertain significance	16	51137350	51137350	Human	1	name
156220146	CV2393687	single nucleotide variant	NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg)	Inborn genetic diseases [RCV002744674]\|Townes syndrome [RCV003594316]	uncertain significance	16	51137391	51137391	Human	2	name
329396089	CV2463246	single nucleotide variant	NM_002968.3(SALL1):c.3832C>G (p.Leu1278Val)	Inborn genetic diseases [RCV003219399]\|Townes syndrome [RCV005101320]	uncertain significance	16	51137255	51137255	Human	2	name
11543124	CV255786	single nucleotide variant	NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile)	Townes syndrome [RCV001520813]\|Townes-Brocks syndrome 1 [RCV000349793]\|not provided [RCV001640526]\|not specified [RCV000242039]	benign	16	51137264	51137264	Human	1	name
401759251	CV2690840	single nucleotide variant	NM_002968.3(SALL1):c.3868C>T (p.Pro1290Ser)	Inborn genetic diseases [RCV003280100]	uncertain significance	16	51137219	51137219	Human	1	name
401763093	CV2720192	single nucleotide variant	NM_002968.3(SALL1):c.3875C>A (p.Ala1292Asp)	Inborn genetic diseases [RCV003300438]	uncertain significance	16	51137212	51137212	Human	1	name
401738767	CV2721970	single nucleotide variant	NM_002968.3(SALL1):c.3658G>A (p.Asp1220Asn)	Inborn genetic diseases [RCV003273824]	uncertain significance	16	51137429	51137429	Human	1	name
11636573	CV272205	single nucleotide variant	NM_002968.3(SALL1):c.3305A>G (p.Asp1102Gly)	not provided [RCV000271174]	uncertain significance	16	51138917	51138917	Human		name
11581869	CV272359	single nucleotide variant	NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)	SALL1-related disorder [RCV003977796]\|Townes syndrome [RCV000870809]\|Townes-Brocks syndrome 1 [RCV000387972]\|not provided [RCV001711861]\|not specified [RCV000348679]	benign\|likely benign	16	51137293	51137293	Human	1	name , trait , alternate_id
401751699	CV2727109	single nucleotide variant	NM_002968.3(SALL1):c.3005C>T (p.Ala1002Val)	Inborn genetic diseases [RCV003295588]	uncertain significance	16	51139217	51139217	Human	1	name
401871569	CV2749560	single nucleotide variant	NM_002968.3(SALL1):c.3620G>T (p.Gly1207Val)	not provided [RCV003332688]	uncertain significance	16	51137467	51137467	Human		name
401882826	CV2788609	single nucleotide variant	NM_002968.3(SALL1):c.3338T>C (p.Leu1113Pro)	Inborn genetic diseases [RCV003385917]	uncertain significance	16	51138884	51138884	Human	1	name
401911673	CV2807936	single nucleotide variant	NM_002968.3(SALL1):c.3845T>C (p.Leu1282Pro)	not provided [RCV003426703]	uncertain significance	16	51137242	51137242	Human		name
404977637	CV2850940	single nucleotide variant	NM_002968.3(SALL1):c.3245C>T (p.Ser1082Leu)	Townes-Brocks syndrome 1 [RCV003486228]	uncertain significance	16	51138977	51138977	Human	1	name
405077692	CV2872691	single nucleotide variant	NM_002968.3(SALL1):c.3373G>T (p.Ala1125Ser)	Townes syndrome [RCV003595208]	uncertain significance	16	51138849	51138849	Human	1	name
405059558	CV2907495	single nucleotide variant	NM_002968.3(SALL1):c.3209A>G (p.Asn1070Ser)	Townes syndrome [RCV003593595]	uncertain significance	16	51139013	51139013	Human	1	name
405061368	CV2909341	single nucleotide variant	NM_002968.3(SALL1):c.3802G>A (p.Gly1268Ser)	Townes syndrome [RCV003593750]	uncertain significance	16	51137285	51137285	Human	1	name
405173083	CV3000423	single nucleotide variant	NM_002968.3(SALL1):c.3648G>A (p.Met1216Ile)	Townes syndrome [RCV003758437]	uncertain significance	16	51137439	51137439	Human	1	name
405181565	CV3036032	single nucleotide variant	NM_002968.3(SALL1):c.3000C>G (p.Asn1000Lys)	Townes syndrome [RCV003759497]	uncertain significance	16	51139222	51139222	Human	1	name
404979013	CV3127725	single nucleotide variant	NM_002968.3(SALL1):c.3617T>C (p.Leu1206Pro)	Townes syndrome [RCV003825757]	uncertain significance	16	51137470	51137470	Human	1	name
405024550	CV3139494	single nucleotide variant	NM_002968.3(SALL1):c.3928C>T (p.Arg1310Cys)	Townes syndrome [RCV003830137]	uncertain significance	16	51137159	51137159	Human	1	name
405718183	CV3227705	single nucleotide variant	NM_002968.3(SALL1):c.3278T>G (p.Val1093Gly)	Townes-Brocks syndrome 1 [RCV003992046]	uncertain significance	16	51138944	51138944	Human	1	name
11618724	CV325617	single nucleotide variant	NM_002968.2(SALL1):c.3929G>A (p.Arg1310His)	Townes-Brocks syndrome 1 [RCV000317442]	uncertain significance	16	51137158	51137158	Human		name
11635417	CV325622	single nucleotide variant	NM_002968.2(SALL1):c.3424A>G (p.Thr1142Ala)	Townes-Brocks syndrome 1 [RCV000347610]	uncertain significance	16	51138798	51138798	Human		name
405721472	CV3310318	single nucleotide variant	NM_002968.3(SALL1):c.3271G>A (p.Gly1091Ser)	Inborn genetic diseases [RCV004449875]	uncertain significance	16	51138951	51138951	Human	1	name
405721484	CV3310320	single nucleotide variant	NM_002968.3(SALL1):c.3886G>A (p.Gly1296Ser)	Inborn genetic diseases [RCV004449877]\|Townes syndrome [RCV005104675]	uncertain significance	16	51137201	51137201	Human	2	name
11619241	CV335264	single nucleotide variant	NM_002968.3(SALL1):c.3947A>G (p.Glu1316Gly)	Inborn genetic diseases [RCV002802575]\|not provided [RCV004765715]	uncertain significance	16	51137140	51137140	Human	1	name
11657763	CV335267	single nucleotide variant	NM_002968.2(SALL1):c.3713C>A (p.Ala1238Glu)	Townes-Brocks syndrome 1 [RCV000344108]	uncertain significance	16	51137374	51137374	Human		name
405867368	CV3394325	single nucleotide variant	NM_002968.3(SALL1):c.3856C>T (p.Gln1286Ter)	Townes-Brocks syndrome 1 [RCV004566442]	likely pathogenic	16	51137231	51137231	Human	1	name
407428387	CV3410194	single nucleotide variant	NM_002968.3(SALL1):c.3681T>G (p.Ser1227Arg)	not specified [RCV004587801]	uncertain significance	16	51137406	51137406	Human		name
11624805	CV341753	single nucleotide variant	NM_002968.3(SALL1):c.3277G>A (p.Val1093Met)	Inborn genetic diseases [RCV004661354]	uncertain significance	16	51138945	51138945	Human	1	name
11623976	CV343245	single nucleotide variant	NM_002968.2(SALL1):c.3947A>C (p.Glu1316Ala)	Townes-Brocks syndrome 1 [RCV000380134]	uncertain significance	16	51137140	51137140	Human		name
407469081	CV3483505	single nucleotide variant	NM_002968.3(SALL1):c.3878C>A (p.Pro1293His)	Inborn genetic diseases [RCV004661356]	uncertain significance	16	51137209	51137209	Human	1	name
407469088	CV3483508	single nucleotide variant	NM_002968.3(SALL1):c.3328T>C (p.Ser1110Pro)	Inborn genetic diseases [RCV004661359]	uncertain significance	16	51138894	51138894	Human	1	name
408377511	CV3508528	single nucleotide variant	NM_002968.3(SALL1):c.3725C>A (p.Ser1242Tyr)	SALL1-related disorder [RCV004751044]	uncertain significance	16	51137362	51137362	Human		name , trait , alternate_id
408390616	CV3519446	single nucleotide variant	NM_002968.3(SALL1):c.3402C>G (p.His1134Gln)	not provided [RCV004762755]	uncertain significance	16	51138820	51138820	Human		name
596927408	CV3541075	single nucleotide variant	NM_002968.3(SALL1):c.3008G>T (p.Cys1003Phe)	Townes-Brocks syndrome 1 [RCV004796945]	uncertain significance	16	51139214	51139214	Human	1	name
597728760	CV3594586	single nucleotide variant	NM_002968.3(SALL1):c.3858G>T (p.Gln1286His)	Inborn genetic diseases [RCV004962639]	uncertain significance	16	51137229	51137229	Human	1	name
597632234	CV3594587	single nucleotide variant	NM_002968.3(SALL1):c.3902C>T (p.Ala1301Val)	Inborn genetic diseases [RCV004968716]	uncertain significance	16	51137185	51137185	Human	1	name
12742303	CV360251	single nucleotide variant	NM_002968.3(SALL1):c.3154C>T (p.Gln1052Ter)	not provided [RCV000413349]	likely pathogenic	16	51139068	51139068	Human		name
12840129	CV374407	single nucleotide variant	NM_002968.3(SALL1):c.3157A>C (p.Met1053Leu)	not provided [RCV000430109]	uncertain significance	16	51139065	51139065	Human		name
597848993	CV3762285	single nucleotide variant	NM_002968.3(SALL1):c.3334C>T (p.Pro1112Ser)	not specified [RCV005087705]	uncertain significance	16	51138888	51138888	Human		name
597940541	CV3836714	single nucleotide variant	NM_002968.3(SALL1):c.3680G>T (p.Ser1227Ile)	Townes syndrome [RCV005187734]	uncertain significance	16	51137407	51137407	Human	1	name
598227644	CV3894532	single nucleotide variant	NM_002968.3(SALL1):c.3470C>G (p.Thr1157Ser)	not provided [RCV005257775]	uncertain significance	16	51138752	51138752	Human		name
598208189	CV3906459	single nucleotide variant	NM_002968.3(SALL1):c.3673T>G (p.Ser1225Ala)	Inborn genetic diseases [RCV005270186]	uncertain significance	16	51137414	51137414	Human	1	name
12893919	CV409646	single nucleotide variant	NM_002968.3(SALL1):c.3326C>T (p.Pro1109Leu)	not provided [RCV000480807]	likely pathogenic	16	51138896	51138896	Human		name
12906679	CV415497	single nucleotide variant	NM_002968.3(SALL1):c.3938G>A (p.Arg1313His)	Inborn genetic diseases [RCV002526035]\|Townes syndrome [RCV001212454]\|not provided [RCV000489514]	benign\|uncertain significance	16	51137149	51137149	Human	2	name
13473204	CV445586	single nucleotide variant	NM_002968.3(SALL1):c.3601G>A (p.Gly1201Ser)	not provided [RCV000519326]	uncertain significance	16	51137486	51137486	Human		name
13479940	CV466495	single nucleotide variant	NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe)	Townes syndrome [RCV000550746]\|Townes-Brocks syndrome 1 [RCV003139757]	likely benign\|uncertain significance	16	51139023	51139023	Human	1	name
13822081	CV574086	single nucleotide variant	NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln)	Inborn genetic diseases [RCV003163206]\|Townes syndrome [RCV000696783]	uncertain significance	16	51137503	51137503	Human	2	name
21404692	CV677284	single nucleotide variant	NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile)	SALL1-related disorder [RCV004751754]\|Townes-Brocks syndrome 1 [RCV002478943]\|not specified [RCV001002753]	likely benign	16	51138900	51138900	Human	1	name , trait , alternate_id
21075394	CV797339	single nucleotide variant	NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile)	Inborn genetic diseases [RCV002549932]\|Townes syndrome [RCV002067616]\|not provided [RCV000996269]	likely benign\|uncertain significance	16	51137123	51137123	Human	2	name
25314865	CV818326	single nucleotide variant	NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met)	Inborn genetic diseases [RCV002552026]\|Townes syndrome [RCV002552027]\|Townes-Brocks syndrome 1 [RCV001029863]\|not provided [RCV001566703]	uncertain significance	16	51137251	51137251	Human	2	name
8627831	CV82975	single nucleotide variant	NM_002968.2(SALL1):c.3674C>T (p.Ser1225Leu)	Malignant melanoma [RCV000063055]	not provided	16	51137413	51137413	Human		name
8627832	CV82976	single nucleotide variant	NM_002968.3(SALL1):c.3239C>T (p.Ser1080Leu)	Inborn genetic diseases [RCV003271345]	uncertain significance\|not provided	16	51138983	51138983	Human	1	name
8627833	CV82977	single nucleotide variant	NM_002968.2(SALL1):c.3116C>T (p.Ser1039Phe)	Malignant melanoma [RCV000063057]	not provided	16	51139106	51139106	Human		name
8635831	CV91054	single nucleotide variant	NM_002968.2(SALL1):c.3629C>T (p.Pro1210Leu)	Malignant melanoma [RCV000071152]	not provided	16	51137458	51137458	Human		name
8635832	CV91055	single nucleotide variant	NM_002968.2(SALL1):c.3356C>T (p.Ser1119Phe)	Malignant melanoma [RCV000071153]	not provided	16	51138866	51138866	Human		name
38463440	CV919661	single nucleotide variant	NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val)	Townes-Brocks syndrome 1 [RCV001199084]	uncertain significance	16	51137300	51137300	Human	1	name
38466621	CV962178	single nucleotide variant	NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys)	Townes-Brocks syndrome 1 [RCV001250545]	uncertain significance	16	51137240	51137240	Human	1	name
40815899	CV970546	single nucleotide variant	NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu)	Townes-Brocks syndrome 1 [RCV001262006]	uncertain significance	16	51137305	51137305	Human	1	name
126729602	CV996975	single nucleotide variant	NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val)	Townes syndrome [RCV001303592]\|Townes-Brocks syndrome 1 [RCV002499565]	uncertain significance	16	51139134	51139134	Human	1	name
127237832	CV1063652	duplication	NM_002968.3(SALL1):c.881_893dup (p.Leu299fs)	Townes syndrome [RCV001382908]	pathogenic	16	51141328	51141329	Human	1	name
150421509	CV1195072	microsatellite	NM_002968.3(SALL1):c.565_566dup (p.Val190fs)	not provided [RCV001570574]	pathogenic	16	51141655	51141656	Human		name
155641526	CV1709825	microsatellite	NM_002968.3(SALL1):c.478GGC[3] (p.Gly163del)	SALL1-related disorder [RCV003943349]\|Townes syndrome [RCV005096082]\|not provided [RCV002292925]	likely benign\|uncertain significance	16	51141733	51141735	Human		name , trait , alternate_id
10050715	CV192348	microsatellite	NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del)	Townes syndrome [RCV001513382]\|Townes-Brocks syndrome 1 [RCV000369147]\|not provided [RCV001706124]\|not specified [RCV000246493]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51141745	51141747	Human		name
156313953	CV2089506	deletion	NM_002968.3(SALL1):c.878_887del (p.Leu293fs)	Townes syndrome [RCV002898877]	pathogenic	16	51141335	51141344	Human	1	name
156134222	CV2169365	duplication	NM_002968.3(SALL1):c.469_512dup (p.Ile172fs)	Townes syndrome [RCV003022290]	pathogenic	16	51141709	51141710	Human	1	name
8559913	CV22472	deletion	NM_002968.3(SALL1):c.792_793del (p.Leu264fs)	Townes-Brocks syndrome 1 [RCV000007858]	pathogenic	16	51141429	51141430	Human	1	name
11552321	CV255796	microsatellite	NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup)	Townes syndrome [RCV000533357]\|Townes-Brocks syndrome 1 [RCV000356333]\|not provided [RCV001711558]\|not specified [RCV000254222]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51141732	51141733	Human		name
11633381	CV264711	microsatellite	NM_002968.3(SALL1):c.870_871dup (p.Gln291fs)	Townes syndrome [RCV001386756]\|not provided [RCV000335508]	pathogenic	16	51141350	51141351	Human		name
401911677	CV2807940	deletion	NM_002968.3(SALL1):c.633_634del (p.Gln212fs)	not provided [RCV003426706]	pathogenic	16	51141588	51141589	Human		name
597631293	CV3552666	deletion	NM_002968.3(SALL1):c.868_872del (p.Ser290fs)	not provided [RCV004823366]	pathogenic	16	51141350	51141354	Human		name
597861379	CV3880875	deletion	NM_002968.3(SALL1):c.952_953del (p.Pro318fs)	Townes-Brocks syndrome 1 [RCV005229703]	pathogenic	16	51141269	51141270	Human	1	name
150414777	CV1191812	microsatellite	NM_002968.3(SALL1):c.1113ATC[1] (p.Ser375del)	Townes syndrome [RCV002573203]\|not provided [RCV001567690]	likely benign\|uncertain significance	16	51141104	51141106	Human		name
11550201	CV255798	microsatellite	NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup)	Townes syndrome [RCV000552954]\|Townes-Brocks syndrome 1 [RCV000612233]\|not provided [RCV001573351]\|not specified [RCV000251431]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	51141744	51141745	Human		name
127263765	CV1063649	microsatellite	NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs)	Townes syndrome [RCV001381054]	pathogenic	16	51140798	51140799	Human		name
8559910	CV22469	deletion	NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs)	Townes-Brocks syndrome 1 [RCV000007855]	pathogenic	16	51140944	51140945	Human	1	name
8559911	CV22470	microsatellite	NM_002968.3(SALL1):c.1347_1348del (p.His449fs)	Townes-Brocks syndrome 1 [RCV000007856]	pathogenic	16	51140874	51140875	Human		name
401935012	CV2798118	deletion	NM_002968.3(SALL1):c.2225_2226del (p.Ala742fs)	SALL1-related disorder [RCV003412428]	likely pathogenic	16	51139996	51139997	Human		name , trait , alternate_id
405867472	CV2842827	deletion	NM_002968.3(SALL1):c.2283_2284del (p.Leu762fs)	Townes-Brocks syndrome 1 [RCV004577631]	pathogenic	16	51139938	51139939	Human	1	name
405172582	CV2996067	duplication	NM_002968.3(SALL1):c.2325_2331dup (p.Ala778fs)	Townes syndrome [RCV003758373]	pathogenic	16	51139890	51139891	Human	1	name
616938759	CV4015814	deletion	NM_002968.3(SALL1):c.1174_1175del (p.Leu392fs)	Townes-Brocks syndrome 1 [RCV005414366]	likely pathogenic	16	51141047	51141048	Human	1	name
616938760	CV4015815	deletion	NM_002968.3(SALL1):c.1384_1385del (p.Ser462fs)	Townes-Brocks syndrome 1 [RCV005414367]	pathogenic	16	51140837	51140838	Human	1	name
12893544	CV409647	deletion	NM_002968.3(SALL1):c.1380_1381del (p.Ser460fs)	not provided [RCV000479335]	pathogenic	16	51140841	51140842	Human		name
12906308	CV414718	deletion	NM_002968.3(SALL1):c.1108_1109del (p.Val370fs)	Townes-Brocks syndrome 1 [RCV000489064]	pathogenic	16	51141113	51141114	Human	1	name
21074847	CV798700	duplication	NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)	Townes-Brocks syndrome 1 [RCV000995629]	pathogenic	16	51139532	51139533	Human	1	name
25318287	CV805886	deletion	NM_002968.3(SALL1):c.2712_2715del (p.Gly906fs)	not provided [RCV001008523]	likely pathogenic	16	51139507	51139510	Human		name
11632778	CV264951	duplication	NM_002968.3(SALL1):c.3099_3105dup (p.Arg1036fs)	not provided [RCV000287226]	pathogenic	16	51139116	51139117	Human		name
405171085	CV2987273	deletion	NM_002968.3(SALL1):c.3128_3129del (p.Asn1043fs)	Townes syndrome [RCV003758218]	pathogenic	16	51139093	51139094	Human	1	name
616938975	CV4015303	duplication	NM_002968.3(SALL1):c.3019_3032dup (p.Cys1012fs)	not provided [RCV005412813]	pathogenic	16	51139189	51139190	Human		name
12895518	CV409645	deletion	NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs)	Inborn genetic diseases [RCV005268622]\|SALL1-related disorder [RCV004751556]\|Townes syndrome [RCV000526857]\|Townes-Brocks syndrome 1 [RCV000007863]\|not provided [RCV000486755]	pathogenic	16	51138807	51138808	Human	2	name , trait , alternate_id
14738737	CV644745	deletion	NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs)	Townes syndrome [RCV000821059]	pathogenic	16	51139214	51139217	Human	1	name
617151543	CV4018119	indel	NM_002968.3(SALL1):c.829_830delinsTA (p.Thr277Ter)	Townes-Brocks syndrome 1 [RCV005417909]	pathogenic	16	51141392	51141393	Human		name
13831965	CV582462	deletion	NM_002968.3(SALL1):c.253_258del (p.Phe85_Ser86del)	not provided [RCV000722650]	uncertain significance	16	51141964	51141969	Human		name
41407699	CV971544	insertion	NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs)	Townes-Brocks syndrome 1 [RCV001290092]	pathogenic	16	51140856	51140857	Human	1	name
155802787	CV1857776	microsatellite	NM_002968.3(SALL1):c.448AGC[6] (p.Ser156_Ser159del)	not provided [RCV002461625]	likely benign	16	51141745	51141756	Human		name
156091066	CV2093048	microsatellite	NM_002968.3(SALL1):c.448AGC[8] (p.Ser158_Ser159del)	Townes syndrome [RCV002926682]	likely benign	16	51141745	51141750	Human		name
11577902	CV226088	microsatellite	NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)	Townes syndrome [RCV001413895]\|Townes-Brocks syndrome 1 [RCV000269733]\|not provided [RCV000871207]\|not specified [RCV000322345]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51141745	51141753	Human		name
126909800	CV1038443	microsatellite	NM_002968.3(SALL1):c.448AGC[16] (p.Ser154_Ser159dup)	Townes-Brocks syndrome 1 [RCV004546639]\|not provided [RCV001354092]	uncertain significance	16	51141744	51141745	Human		name
150450114	CV1254071	indel	NM_002968.3(SALL1):c.2573_2574delinsAA (p.Leu858Gln)	not provided [RCV001667708]	benign	16	51139648	51139649	Human		name
156037279	CV2097800	deletion	NM_002968.3(SALL1):c.460_480del (p.Ser154_Gly160del)	Townes syndrome [RCV002885661]	uncertain significance	16	51141742	51141762	Human	1	name
11664838	CV335283	microsatellite	NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup)	Townes syndrome [RCV000872954]\|Townes-Brocks syndrome 1 [RCV000393511]\|not provided [RCV001712032]\|not specified [RCV000403758]	benign\|uncertain significance	16	51141744	51141745	Human		name
15106504	CV693892	microsatellite	NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)	Townes syndrome [RCV000871313]\|Townes-Brocks syndrome 1 [RCV002478980]\|not provided [RCV001573512]\|not specified [RCV001529319]	benign\|likely benign	16	51141744	51141745	Human		name
15127994	CV740236	duplication	NM_002968.3(SALL1):c.2798_2803dup (p.Asn933_Ser934dup)	SALL1-related disorder [RCV004751791]\|Townes syndrome [RCV002540155]	likely benign	16	51139418	51139419	Human	1	name , trait , alternate_id
150500467	CV1234645	insertion	NM_002968.3(SALL1):c.475_476insAGC (p.Ser159delinsLysArg)	not provided [RCV001656612]	benign	16	51141746	51141747	Human		name
401946849	CV2831651	duplication	NM_002968.3(SALL1):c.1705_1707dup (p.Phe569_Ile570insPhe)	Townes-Brocks syndrome 1 [RCV003445316]	uncertain significance	16	51140514	51140515	Human	1	name
405260455	CV3204114	microsatellite	NM_002968.3(SALL1):c.478GGC[6] (p.Gly163_Ser164insGlyGly)	SALL1-related disorder [RCV003943984]\|Townes syndrome [RCV005101852]	likely benign\|uncertain significance	16	51141732	51141733	Human		name , trait , alternate_id
10048148	CV192352	insertion	NM_002968.2(SALL1):c.477_478insAGC (p.Ser159_Gly160insSer)	not specified [RCV000175746]	likely benign	16	51141744	51141745	Human		name
401903218	CV2807943	insertion	NM_002968.3(SALL1):c.480_481insAGC (p.Gly160_Gly161insSer)	not provided [RCV003419328]	uncertain significance	16	51141741	51141742	Human		name
150542089	CV1302484	indel	NM_002968.3(SALL1):c.463_475delinsG (p.Ser155_Ser159delinsGly)	not provided [RCV001761174]	uncertain significance	16	51141747	51141759	Human		name
155267100	CV1696500	indel	NM_002968.3(SALL1):c.469_475delinsG (p.Ser157_Ser159delinsGly)	not provided [RCV002281358]	uncertain significance	16	51141747	51141753	Human		name
405267738	CV3202634	indel	NM_002968.3(SALL1):c.472_475delinsG (p.Ser158_Ser159delinsGly)	SALL1-related disorder [RCV003911855]	likely benign	16	51141747	51141750	Human		name , trait , alternate_id
598238180	CV3893361	indel	NM_002968.3(SALL1):c.475delinsGGCGGCG (p.Ser159delinsGlyGlyGly)	not provided [RCV005256094]	uncertain significance	16	51141747	51141747	Human		name
11641077	CV266996	insertion	NM_002968.3(SALL1):c.477_478insAGCGGC (p.Ser159_Gly160insSerGly)	Townes syndrome [RCV003105844]\|not provided [RCV000766499]\|not specified [RCV000350628]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	51141744	51141745	Human	1	name
405158023	CV3152628	insertion	NM_002968.3(SALL1):c.477_478insAGCACC (p.Ser159_Gly160insSerThr)	Townes syndrome [RCV003840555]	uncertain significance	16	51141744	51141745	Human	1	name
408380667	CV3501662	duplication	NM_002968.3(SALL1):c.400_411dup (p.Ser137_Gly138insLysSerGlySer)	not provided [RCV004729190]	uncertain significance	16	51141810	51141811	Human		name
13832364	CV582858	microsatellite	NM_002968.2(SALL1):c.466_477dup (p.Ser159_Gly160insSerSerSerSer)	SALL1-related disorder [RCV004751679]\|Townes syndrome [RCV002533071]\|not provided [RCV000723051]\|not specified [RCV000730806]	benign\|likely benign\|uncertain significance	16	51141744	51141745	Human		name , trait , alternate_id
405855102	CV3395699	indel	NM_002968.3(SALL1):c.731_737delinsAGAA (p.Leu244_Leu246delinsGlnLys)	Townes-Brocks syndrome 1 [RCV004555962]	uncertain significance	16	51141485	51141491	Human		name
152977923	CV1671282	indel	NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer)	Townes-Brocks syndrome 1 [RCV002226956]	pathogenic	16	51140853	51140859	Human		name
13529220	CV513634	insertion	NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly)	Townes-Brocks syndrome 1 [RCV000626257]\|not provided [RCV002285382]	uncertain significance	16	51141744	51141745	Human	1	name
150332698	CV1169675	indel	NM_002968.3(SALL1):c.388_391delinsTTTGCTAACAAAGCGGCAGCGGCACTT (p.Pro130fs)	not provided [RCV001537002]	pathogenic	16	51141831	51141834	Human		name
596939987	CV3550736	insertion	NM_002968.3(SALL1):c.477_478insAGCAGCAGCGGC (p.Ser159_Gly160insSerSerSerGly)	not provided [RCV004814636]	uncertain significance	16	51141744	51141745	Human		name

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