ClinVar for MedGen (Select 1635275) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24422501.	NM_002968.3(SALL1):c.2605C>G (p.Gln869Glu) GRCh37: Chr16:51173528 GRCh38: Chr16:51139617	SALL1	Q772E, Q869E	Townes-Brocks syndrome 1	Uncertain significance (Mar 6, 2023)	criteria provided, single submitter
Select item 24356462.	NM_002968.3(SALL1):c.104G>T (p.Arg35Leu) GRCh37: Chr16:51176029 GRCh38: Chr16:51142118	SALL1	R35L	Townes-Brocks syndrome 1	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 20725653.	NM_002968.3(SALL1):c.2269C>T (p.Arg757Cys) GRCh37: Chr16:51173864 GRCh38: Chr16:51139953	SALL1	R660C, R757C	Townes syndrome, Townes-Brocks syndrome 1	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18785384.	NM_002968.3(SALL1):c.833C>T (p.Ser278Phe) GRCh37: Chr16:51175300 GRCh38: Chr16:51141389	SALL1	S181F, S278F	Townes-Brocks syndrome 1	Uncertain significance	criteria provided, single submitter
Select item 17056805.	NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter) GRCh37: Chr16:51174905 GRCh38: Chr16:51140994	SALL1	G313, G410	Townes-Brocks syndrome 1	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17000116.	NM_002968.3(SALL1):c.2129del (p.Ile710fs) GRCh37: Chr16:51174004 GRCh38: Chr16:51140093	SALL1	I613fs, I710fs	Townes-Brocks syndrome 1	Likely pathogenic (Aug 2, 2022)	criteria provided, single submitter
Select item 16992457.	NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe) GRCh37: Chr16:51172811 GRCh38: Chr16:51138900	SALL1	V1011F, V1108F	Townes-Brocks syndrome 1	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 16988958.	NM_002968.3(SALL1):c.1778G>A (p.Ser593Asn) GRCh37: Chr16:51174355 GRCh38: Chr16:51140444	SALL1	S496N, S593N	Townes-Brocks syndrome 1	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 16935599.	NM_002968.3(SALL1):c.709C>T (p.Gln237Ter) GRCh37: Chr16:51175424 GRCh38: Chr16:51141513	SALL1	Q140, Q237	Townes-Brocks syndrome 1	Pathogenic (Jun 3, 2022)	no assertion criteria provided
Select item 168427410.	NM_002968.3(SALL1):c.721A>G (p.Ile241Val) GRCh37: Chr16:51175412 GRCh38: Chr16:51141501	SALL1	I144V, I241V	Townes-Brocks syndrome 1	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 168359911.	NM_002968.3(SALL1):c.494C>T (p.Ser165Phe) GRCh37: Chr16:51175639 GRCh38: Chr16:51141728	SALL1	S165F, S68F	Townes-Brocks syndrome 1	Uncertain significance (Jun 8, 2021)	criteria provided, single submitter
Select item 167935912.	NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer) GRCh37: Chr16:51174764-51174770 GRCh38: Chr16:51140853-51140859	SALL1		Townes-Brocks syndrome 1	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167930413.	NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) GRCh37: Chr16:51175532 GRCh38: Chr16:51141621	SALL1	Q104, Q201	Townes-Brocks syndrome 1	Pathogenic/Likely pathogenic (Aug 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167930014.	NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg) GRCh37: Chr16:51174358 GRCh38: Chr16:51140447	SALL1	K495R, K592R	Townes-Brocks syndrome 1	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 162876615.	NM_002968.3(SALL1):c.1953C>T (p.Pro651=) GRCh37: Chr16:51174180 GRCh38: Chr16:51140269	SALL1		Townes syndrome, Townes-Brocks syndrome 1	Likely benign (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162634016.	NM_002968.3(SALL1):c.618G>A (p.Ala206=) GRCh37: Chr16:51175515 GRCh38: Chr16:51141604	SALL1		Townes syndrome, Townes-Brocks syndrome 1	Likely benign (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158263317.	NM_002968.3(SALL1):c.2565T>G (p.Pro855=) GRCh37: Chr16:51173568 GRCh38: Chr16:51139657	SALL1		Townes syndrome, Townes-Brocks syndrome 1	Likely benign (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153664918.	NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) GRCh37: Chr16:51172902 GRCh38: Chr16:51138991	SALL1		Townes syndrome, Townes-Brocks syndrome 1	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151499819.	NM_002968.3(SALL1):c.2852C>T (p.Ala951Val) GRCh37: Chr16:51173281 GRCh38: Chr16:51139370	SALL1	A951V, A854V	Townes syndrome, Townes-Brocks syndrome 1	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146261420.	NM_002968.3(SALL1):c.1227C>T (p.Ile409=) GRCh37: Chr16:51174906 GRCh38: Chr16:51140995	SALL1		Townes syndrome, Townes-Brocks syndrome 1	Likely benign (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143147221.	NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) GRCh37: Chr16:51171270 GRCh38: Chr16:51137359	SALL1	N1146S, N1243S	Townes-Brocks syndrome 1, Townes syndrome	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142260022.	NM_002968.3(SALL1):c.2957T>C (p.Leu986Ser) GRCh37: Chr16:51173176 GRCh38: Chr16:51139265	SALL1	L889S, L986S	Townes-Brocks syndrome 1, Townes syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141573123.	NM_002968.3(SALL1):c.2947G>C (p.Glu983Gln) GRCh37: Chr16:51173186 GRCh38: Chr16:51139275	SALL1	E886Q, E983Q	Townes syndrome, Townes-Brocks syndrome 1	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133361724.	NM_002968.3(SALL1):c.3381del (p.Arg1128fs) GRCh37: Chr16:51172752 GRCh38: Chr16:51138841	SALL1	R1031fs, R1128fs	Townes-Brocks syndrome 1	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132882325.	NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe) GRCh37: Chr16:51173195 GRCh38: Chr16:51139284	SALL1	I883F, I980F	Townes-Brocks syndrome 1, not provided	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130930526.	NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe) GRCh37: Chr16:51171367 GRCh38: Chr16:51137456	SALL1	V1114F, V1211F	Townes-Brocks syndrome 1, not provided	Uncertain significance (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130725927.	NM_002968.3(SALL1):c.1016C>T (p.Pro339Leu) GRCh37: Chr16:51175117 GRCh38: Chr16:51141206	SALL1	P242L, P339L	Townes-Brocks syndrome 1, not provided	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130657028.	NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) GRCh37: Chr16:51171216 GRCh38: Chr16:51137305	SALL1	P1164R, P1261R	Townes-Brocks syndrome 1, not provided	Uncertain significance (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128273629.	NM_002968.3(SALL1):c.219C>T (p.Ile73=) GRCh37: Chr16:51175914 GRCh38: Chr16:51142003	SALL1		not provided, Townes syndrome, Townes-Brocks syndrome 1	Benign/Likely benign (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 128149830.	NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) GRCh37: Chr16:51172823 GRCh38: Chr16:51138912	SALL1	P1007A, P1104A	Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127049331.	NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) GRCh37: Chr16:51174568 GRCh38: Chr16:51140657	SALL1	T425M, T522M	not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126697732.	NM_002968.3(SALL1):c.2331C>T (p.Asn777=) GRCh37: Chr16:51173802 GRCh38: Chr16:51139891	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126560333.	NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) GRCh37: Chr16:51171269 GRCh38: Chr16:51137358	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122381334.	NM_002968.3(SALL1):c.1207C>T (p.Pro403Ser) GRCh37: Chr16:51174926 GRCh38: Chr16:51141015	SALL1	P306S, P403S	not provided, Townes-Brocks syndrome 1	Uncertain significance (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121479135.	NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) GRCh37: Chr16:51173874 GRCh38: Chr16:51139963	SALL1		Townes-Brocks syndrome 1, not provided	Likely benign (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119438636.	NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) GRCh37: Chr16:51172803 GRCh38: Chr16:51138892	SALL1		not provided, Townes-Brocks syndrome 1	Likely benign (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118432137.	NM_002968.3(SALL1):c.424G>C (p.Gly142Arg) GRCh37: Chr16:51175709 GRCh38: Chr16:51141798	SALL1	G142R, G45R	Townes-Brocks syndrome 1	Uncertain significance (Jul 10, 2020)	criteria provided, single submitter
Select item 117741238.	NM_002968.3(SALL1):c.1759C>A (p.Pro587Thr) GRCh37: Chr16:51174374 GRCh38: Chr16:51140463	SALL1	P490T, P587T	Townes-Brocks syndrome 1	Uncertain significance (Jan 4, 2021)	criteria provided, single submitter
Select item 104861139.	NM_002968.3(SALL1):c.269dup (p.Pro91fs) GRCh37: Chr16:51175863-51175864 GRCh38: Chr16:51141952-51141953	SALL1	P91fs	Townes-Brocks syndrome 1	Likely pathogenic (Mar 25, 2021)	criteria provided, single submitter
Select item 100653540.	NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) GRCh37: Chr16:51173045 GRCh38: Chr16:51139134	SALL1	I1030V, I933V	Townes syndrome, Townes-Brocks syndrome 1	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98823441.	NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg) GRCh37: Chr16:51173287 GRCh38: Chr16:51139376	SALL1	Q852R, Q949R	Townes-Brocks syndrome 1	Uncertain significance (Jun 11, 2020)	criteria provided, single submitter
Select item 98347742.	NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs) GRCh37: Chr16:51174767-51174768 GRCh38: Chr16:51140856-51140857	SALL1	K359fs, K456fs	Townes-Brocks syndrome 1	Pathogenic (Jul 23, 2020)	criteria provided, single submitter
Select item 98242543.	NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) GRCh37: Chr16:51171216 GRCh38: Chr16:51137305	SALL1	P1164L, P1261L	Townes-Brocks syndrome 1	Uncertain significance (Aug 26, 2020)	criteria provided, single submitter
Select item 97387644.	NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys) GRCh37: Chr16:51171151 GRCh38: Chr16:51137240	SALL1	E1186K, E1283K	Townes-Brocks syndrome 1	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 97325545.	NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter) GRCh37: Chr16:51174260 GRCh38: Chr16:51140349	SALL1	E528, E625	Townes-Brocks syndrome 1	Pathogenic (Jul 23, 2017)	criteria provided, single submitter
Select item 93200446.	NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val) GRCh37: Chr16:51171211 GRCh38: Chr16:51137300	SALL1	I1166V, I1263V	Townes-Brocks syndrome 1	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86298647.	NM_002968.3(SALL1):c.412G>A (p.Gly138Ser) GRCh37: Chr16:51175721 GRCh38: Chr16:51141810	SALL1	G41S, G138S	Townes syndrome, not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Dec 7, 2022)	criteria provided, conflicting interpretations
Select item 83001348.	NM_002968.3(SALL1):c.2287dup (p.Arg763fs) GRCh37: Chr16:51173845-51173846 GRCh38: Chr16:51139934-51139935	SALL1	R666fs, R763fs	Townes-Brocks syndrome 1	Likely pathogenic (Oct 4, 2019)	no assertion criteria provided
Select item 82998749.	NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) GRCh37: Chr16:51174083 GRCh38: Chr16:51140172	SALL1	Q587, Q684	Townes-Brocks syndrome 1	Uncertain significance (Feb 7, 2018)	criteria provided, single submitter
Select item 82991550.	NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) GRCh37: Chr16:51171162 GRCh38: Chr16:51137251	SALL1	T1182M, T1279M	Inborn genetic diseases, Townes syndrome, not provided	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82988151.	NM_002968.3(SALL1):c.2801del (p.Ser934fs) GRCh37: Chr16:51173332 GRCh38: Chr16:51139421	SALL1	S837fs, S934fs	Townes-Brocks syndrome 1	Likely pathogenic (Aug 13, 2019)	no assertion criteria provided
Select item 80748152.	NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) GRCh37: Chr16:51173443-51173444 GRCh38: Chr16:51139532-51139533	SALL1	V897fs, V800fs	Townes-Brocks syndrome 1	Pathogenic (Aug 10, 2018)	criteria provided, single submitter
Select item 77179453.	NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) GRCh37: Chr16:51175430 GRCh38: Chr16:51141519	SALL1	A235T, A138T	not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (May 28, 2020)	criteria provided, conflicting interpretations
Select item 70272854.	NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) GRCh37: Chr16:51173049 GRCh38: Chr16:51139138	SALL1		not provided, Townes-Brocks syndrome 1	Likely benign (Aug 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 70230255.	NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) GRCh37: Chr16:51175655-51175656 GRCh38: Chr16:51141744-51141745	SALL1		Townes-Brocks syndrome 1, Townes syndrome, not provided	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69398656.	NM_002968.3(SALL1):c.1514A>G (p.His505Arg) GRCh37: Chr16:51174619 GRCh38: Chr16:51140708	SALL1	H408R, H505R	Townes-Brocks syndrome 1	Uncertain significance (Aug 4, 2019)	criteria provided, single submitter
Select item 68959957.	NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) GRCh37: Chr16:51172811 GRCh38: Chr16:51138900	SALL1	V1011I, V1108I	not specified, Townes-Brocks syndrome 1	Likely benign (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 65475358.	NM_002968.3(SALL1):c.548C>A (p.Thr183Lys) GRCh37: Chr16:51175585 GRCh38: Chr16:51141674	SALL1	T183K, T86K	Townes-Brocks syndrome 1, Townes syndrome	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 63369359.	NM_002968.3(SALL1):c.602A>G (p.Gln201Arg) GRCh37: Chr16:51175531 GRCh38: Chr16:51141620	SALL1	Q201R, Q104R	not provided, VACTERL with hydrocephalus, Townes-Brocks syndrome 1	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52888360.	NM_002968.3(SALL1):c.264C>T (p.Ser88=) GRCh37: Chr16:51175869 GRCh38: Chr16:51141958	SALL1		not provided, Townes syndrome, Townes-Brocks syndrome 1	Benign/Likely benign (Aug 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52305061.	NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) GRCh37: Chr16:51175655-51175656 GRCh38: Chr16:51141744-51141745	SALL1		not provided, Townes-Brocks syndrome 1	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51660562.	NM_002968.3(SALL1):c.387C>T (p.Ala129=) GRCh37: Chr16:51175746 GRCh38: Chr16:51141835	SALL1		Townes syndrome, Townes-Brocks syndrome 1, not specified	Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49946163.	NM_002968.3(SALL1):c.361A>G (p.Arg121Gly) GRCh37: Chr16:51175772 GRCh38: Chr16:51141861	SALL1	R121G, R24G	not provided, Townes-Brocks syndrome 1	Uncertain significance (Jul 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49915564.	NM_002968.3(SALL1):c.2278C>T (p.Pro760Ser) GRCh37: Chr16:51173855 GRCh38: Chr16:51139944	SALL1	P760S, P663S	not provided, Townes-Brocks syndrome 1	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49850665.	NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) GRCh37: Chr16:51172953 GRCh38: Chr16:51139042	SALL1		Townes syndrome, not specified, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45925966.	NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe) GRCh37: Chr16:51172934 GRCh38: Chr16:51139023	SALL1	L1067F, L970F	Townes-Brocks syndrome 1, Townes syndrome	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 42611467.	NM_002968.3(SALL1):c.1108_1109del (p.Val370fs) GRCh37: Chr16:51175024-51175025 GRCh38: Chr16:51141113-51141114	SALL1	V273fs, V370fs	Townes-Brocks syndrome 1	Pathogenic (Apr 26, 2017)	criteria provided, single submitter
Select item 41846668.	NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) GRCh37: Chr16:51172718-51172719 GRCh38: Chr16:51138807-51138808	SALL1	C1042fs, C1139fs	not provided, Townes-Brocks syndrome 1, Townes syndrome	Pathogenic (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37940769.	NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) GRCh37: Chr16:51171227 GRCh38: Chr16:51137316	SALL1		not specified, Townes syndrome, Townes-Brocks syndrome 1	Likely benign (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31962270.	NM_002968.3(SALL1):c.43G>A (p.Asp15Asn) GRCh37: Chr16:51185110 GRCh38: Chr16:51151199	SALL1	D15N	Townes-Brocks syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31961771.	NM_002968.3(SALL1):c.351C>T (p.Asn117=) GRCh37: Chr16:51175782 GRCh38: Chr16:51141871	SALL1		Townes syndrome, Townes-Brocks syndrome 1, not provided	Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31961572.	NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) GRCh37: Chr16:51175655-51175656 GRCh38: Chr16:51141744-51141745	SALL1		not provided, Townes syndrome, not specified, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 31961473.	NM_002968.3(SALL1):c.537C>T (p.Leu179=) GRCh37: Chr16:51175596 GRCh38: Chr16:51141685	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31960474.	NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) GRCh37: Chr16:51172911 GRCh38: Chr16:51139000	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31959775.	NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) GRCh37: Chr16:51171056 GRCh38: Chr16:51137145	SALL1		not provided, not specified, Townes-Brocks syndrome 1, Townes syndrome	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31959376.	NM_002968.3(SALL1):c.*83GCCCC[1] GRCh37: Chr16:51170931-51170935 GRCh38: Chr16:51137020-51137024	SALL1		Townes-Brocks syndrome 1, not provided	Likely benign (Mar 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31958777.	NM_002968.3(SALL1):c.*563del GRCh37: Chr16:51170460 GRCh38: Chr16:51136549	SALL1		Townes-Brocks syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31958678.	NM_002968.3(SALL1):c.*588del GRCh37: Chr16:51170435 GRCh38: Chr16:51136524	SALL1		Townes-Brocks syndrome 1	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31958379.	NM_002968.3(SALL1):c.705_706del GRCh37: Chr16:51170317-51170318 GRCh38: Chr16:51136406-51136407	SALL1		Townes-Brocks syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31957980.	NM_002968.3(SALL1):c.*920CTT[2] GRCh37: Chr16:51170095-51170097 GRCh38: Chr16:51136184-51136186	SALL1		not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 31957681.	NM_002968.3(SALL1):c.*1033dup GRCh37: Chr16:51169989-51169990 GRCh38: Chr16:51136078-51136079	SALL1		Townes-Brocks syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31957582.	NM_002968.3(SALL1):c.*1112dup GRCh37: Chr16:51169910-51169911 GRCh38: Chr16:51135999-51136000	SALL1		Townes-Brocks syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 29006283.	NM_002968.3(SALL1):c.484G>A (p.Gly162Ser) GRCh37: Chr16:51175649 GRCh38: Chr16:51141738	SALL1	G162S, G65S	not provided, Townes-Brocks syndrome 1, Townes syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28929884.	NM_002968.3(SALL1):c.1329T>A (p.Asp443Glu) GRCh37: Chr16:51174804 GRCh38: Chr16:51140893	SALL1	D443E, D346E	not provided, Townes-Brocks syndrome 1	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28812285.	NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) GRCh37: Chr16:51171204 GRCh38: Chr16:51137293	SALL1	G1265E, G1168E	Townes syndrome, not specified, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25887786.	NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) GRCh37: Chr16:51175643-51175644 GRCh38: Chr16:51141732-51141733	SALL1		not specified, Townes syndrome, not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Jul 17, 2022)	criteria provided, conflicting interpretations
Select item 25887587.	NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) GRCh37: Chr16:51175658 GRCh38: Chr16:51141747	SALL1	S159G, S62G	not provided, not specified, Townes syndrome, Townes-Brocks syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25887488.	NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) GRCh37: Chr16:51175655-51175656 GRCh38: Chr16:51141744-51141745	SALL1		not specified, not provided, Townes syndrome, Townes-Brocks syndrome 1	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25887189.	NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) GRCh37: Chr16:51171175 GRCh38: Chr16:51137264	SALL1	V1275I, V1178I	not provided, not specified, Townes syndrome, Townes-Brocks syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25886890.	NM_002968.3(SALL1):c.3456C>T (p.His1152=) GRCh37: Chr16:51172677 GRCh38: Chr16:51138766	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25886691.	NM_002968.3(SALL1):c.2574C>T (p.Leu858=) GRCh37: Chr16:51173559 GRCh38: Chr16:51139648	SALL1		not provided, not specified, Townes syndrome, Townes-Brocks syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22434392.	NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) GRCh37: Chr16:51175656-51175664 GRCh38: Chr16:51141745-51141753	SALL1		not specified, Townes-Brocks syndrome 1, not provided, Townes syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 22434293.	NM_002968.3(SALL1):c.130G>A (p.Val44Ile) GRCh37: Chr16:51176003 GRCh38: Chr16:51142092	SALL1	V44I	not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Dec 19, 2019)	criteria provided, conflicting interpretations
Select item 21915194.	NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) GRCh37: Chr16:51172973 GRCh38: Chr16:51139062	SALL1	R1054, R957	Townes syndrome, not provided	Pathogenic/Likely pathogenic (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21851095.	NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) GRCh37: Chr16:51171126 GRCh38: Chr16:51137215	SALL1	N1291S, N1194S	Townes syndrome, not specified, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20816796.	NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) GRCh37: Chr16:51175184 GRCh38: Chr16:51141273	SALL1	P317S, P220S	not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Apr 14, 2022)	criteria provided, conflicting interpretations
Select item 19519097.	NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) GRCh37: Chr16:51173013 GRCh38: Chr16:51139102	SALL1		not specified, not provided, Townes syndrome, Townes-Brocks syndrome 1	Benign/Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19518998.	NM_002968.3(SALL1):c.2283G>C (p.Pro761=) GRCh37: Chr16:51173850 GRCh38: Chr16:51139939	SALL1		not provided, Townes-Brocks syndrome 1	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19518799.	NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) GRCh37: Chr16:51175656-51175658 GRCh38: Chr16:51141745-51141747	SALL1	S159del, S62del	Townes syndrome, not specified, not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 7436100.	NM_002968.3(SALL1):c.995del (p.Pro332fs) GRCh37: Chr16:51175138 GRCh38: Chr16:51141227	SALL1	P235fs, P332fs	Townes-Brocks syndrome 1	Pathogenic (Dec 15, 2007)	no assertion criteria provided

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