TSC2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4173641.	NC_000016.10:g.(?_2048587)_(2065635_?)del GRCh37: Chr16:2098588-2115636 GRCh38: Chr16:2048587-2065635	TSC2		Tuberous sclerosis 2	Pathogenic (Sep 27, 2016)	criteria provided, single submitter
Select item 6617342.	NC_000016.10:g.(?_2048596)_(2074415_?)del GRCh37: Chr16:2098597-2124416 GRCh38: Chr16:2048596-2074415	TSC2		Tuberous sclerosis 2	Pathogenic (Jul 31, 2018)	criteria provided, single submitter
Select item 4678333.	NC_000016.10:g.(?_2048596)_(2048773_?)del GRCh37: Chr16:2098597-2098774 GRCh38: Chr16:2048596-2048773	TSC2		Tuberous sclerosis 2	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 5361134.	NC_000016.10:g.(?_2048610)_(2088616_?)del GRCh37: Chr16:2098611-2138617 GRCh38: Chr16:2048610-2088616	TSC2		Tuberous sclerosis 2	Pathogenic (Nov 30, 2017)	criteria provided, single submitter
Select item 5938125.	NM_000548.5(TSC2):c.3G>T (p.Met1Ile) GRCh37: Chr16:2098619 GRCh38: Chr16:2048618	TSC2	M1I, M12I	not provided	Likely pathogenic (Sep 12, 2017)	criteria provided, single submitter
Select item 8173026.	NM_000548.5(TSC2):c.11dup (p.Thr5fs) GRCh37: Chr16:2098625-2098626 GRCh38: Chr16:2048624-2048625	TSC2	T5fs, T16fs	not provided	Likely pathogenic (Jan 7, 2021)	criteria provided, single submitter
Select item 8383707.	NM_000548.5(TSC2):c.13del (p.Thr5fs) GRCh37: Chr16:2098628 GRCh38: Chr16:2048627	TSC2	T16fs, T5fs	Tuberous sclerosis 2	Pathogenic (Apr 15, 2019)	criteria provided, single submitter
Select item 13528778.	NM_000548.5(TSC2):c.16dup (p.Ser6fs) GRCh37: Chr16:2098630-2098631 GRCh38: Chr16:2048629-2048630	TSC2	S17fs, S6fs	Tuberous sclerosis 2	Pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 14567219.	NM_000548.5(TSC2):c.20_21del (p.Lys7fs) GRCh37: Chr16:2098635-2098636 GRCh38: Chr16:2048634-2048635	TSC2	K18fs, K7fs	Tuberous sclerosis 2	Pathogenic (Dec 20, 2021)	criteria provided, single submitter
Select item 4959910.	NM_000548.5(TSC2):c.21del (p.Asp8fs) GRCh37: Chr16:2098635 GRCh38: Chr16:2048634	TSC2	D19fs, D8fs	not provided	Pathogenic (Oct 23, 2019)	criteria provided, single submitter
Select item 145842711.	NM_000548.5(TSC2):c.22del (p.Asp8fs) GRCh37: Chr16:2098638 GRCh38: Chr16:2048637	TSC2	D8fs, D19fs	Tuberous sclerosis 2	Pathogenic (Jul 9, 2022)	criteria provided, single submitter
Select item 6531312.	NM_000548.5(TSC2):c.26C>G (p.Ser9Ter) GRCh37: Chr16:2098642 GRCh38: Chr16:2048641	TSC2	S9, S20	Tuberous sclerosis 2	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 39751513.	NC_000016.9:g.(?_2098645)_(2130379_2131595)del GRCh37: Chr16:2098645-2131595 GRCh38: Chr16:2048644-2081594	TSC2		Tuberous sclerosis 2	Pathogenic (Jun 30, 2016)	criteria provided, single submitter
Select item 20778914.	NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) GRCh37: Chr16:2098647 GRCh38: Chr16:2048646	TSC2		not provided	Pathogenic (Oct 3, 2014)	criteria provided, single submitter
Select item 1239415.	NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) GRCh37: Chr16:2098650 GRCh38: Chr16:2048649	TSC2	K12, K23	Tuberous sclerosis 2	Pathogenic (Jan 1, 1996)	no assertion criteria provided
Select item 94394716.	NM_000548.5(TSC2):c.41del (p.Lys14fs) GRCh37: Chr16:2098656 GRCh38: Chr16:2048655	TSC2	K14fs, K25fs	Tuberous sclerosis 2	Pathogenic (Apr 9, 2019)	criteria provided, single submitter
Select item 21725217.	NM_000548.5(TSC2):c.45dup (p.Lys16Ter) GRCh37: Chr16:2098658-2098659 GRCh38: Chr16:2048657-2048658	TSC2	K16, K27	Tuberous sclerosis 2	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6494318.	NM_000548.5(TSC2):c.45_51del (p.Lys16fs) GRCh37: Chr16:2098659-2098665 GRCh38: Chr16:2048658-2048664	TSC2	K27fs, K16fs	Tuberous sclerosis 2	Pathogenic (Jul 10, 2020)	criteria provided, single submitter
Select item 81781019.	NM_000548.5(TSC2):c.87_105del (p.Ser30fs) GRCh37: Chr16:2098700-2098718 GRCh38: Chr16:2048699-2048717	TSC2	S30fs, S41fs	not provided	Pathogenic (Sep 18, 2018)	criteria provided, single submitter
Select item 210710920.	NM_000548.5(TSC2):c.96_106del (p.Glu32fs) GRCh37: Chr16:2098708-2098718 GRCh38: Chr16:2048707-2048717	TSC2	E32fs, E43fs	Tuberous sclerosis 2	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 86177821.	NM_000548.5(TSC2):c.105_106del (p.Gln35fs) GRCh37: Chr16:2098720-2098721 GRCh38: Chr16:2048719-2048720	TSC2	Q35fs, Q46fs	Tuberous sclerosis 2	Pathogenic (Mar 26, 2019)	criteria provided, single submitter
Select item 202385622.	NM_000548.5(TSC2):c.107_108insCTGGTAAAC (p.Thr36_Glu37insTrpTer) GRCh37: Chr16:2098721-2098722 GRCh38: Chr16:2048720-2048721	TSC2		Tuberous sclerosis 2	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 243025523.	NM_000548.5(TSC2):c.109G>T (p.Glu37Ter) GRCh37: Chr16:2098725 GRCh38: Chr16:2048724	TSC2	E37, E48	Tuberous sclerosis 2	Likely pathogenic (Jan 4, 2023)	criteria provided, single submitter
Select item 45194324.	NM_000548.5(TSC2):c.113_114dup (p.Ile39fs) GRCh37: Chr16:2098727-2098728 GRCh38: Chr16:2048726-2048727	TSC2	I39fs, I50fs	not provided	Pathogenic (Sep 15, 2017)	criteria provided, single submitter
Select item 84590725.	NM_000548.5(TSC2):c.114_115insC (p.Ile39fs) GRCh37: Chr16:2098730-2098731 GRCh38: Chr16:2048729-2048730	TSC2	I39fs, I50fs	Tuberous sclerosis 2	Pathogenic (Jan 13, 2019)	criteria provided, single submitter
Select item 209591826.	NM_000548.5(TSC2):c.116_123dup (p.Ala42fs) GRCh37: Chr16:2098731-2098732 GRCh38: Chr16:2048730-2048731	TSC2	A53fs, A42fs	Tuberous sclerosis 2	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 6511327.	NM_000548.5(TSC2):c.120del (p.Thr41fs) GRCh37: Chr16:2098736 GRCh38: Chr16:2048735	TSC2	T41fs, T52fs	Tuberous sclerosis 2	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 41940828.	NM_000548.5(TSC2):c.131_132del (p.Ile44fs) GRCh37: Chr16:2098746-2098747 GRCh38: Chr16:2048745-2048746	TSC2	I44fs, I55fs	not provided	Pathogenic (Jul 16, 2015)	criteria provided, single submitter
Select item 117634229.	NM_000548.5(TSC2):c.132dup (p.Leu45fs) GRCh37: Chr16:2098747-2098748 GRCh38: Chr16:2048746-2048747	TSC2	L45fs, L56fs	not provided	Pathogenic (Mar 1, 2021)	criteria provided, single submitter
Select item 4915130.	NM_000548.5(TSC2):c.133_136del (p.Leu45fs) GRCh37: Chr16:2098748-2098751 GRCh38: Chr16:2048747-2048750	TSC2	L45fs, L56fs	Tuberous sclerosis 2, not provided	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37366431.	NM_000548.5(TSC2):c.134_138+1delinsC GRCh37: Chr16:2098750-2098755 GRCh38: Chr16:2048749-2048754	TSC2		not provided	Pathogenic (Nov 22, 2016)	criteria provided, single submitter
Select item 46786532.	NM_000548.5(TSC2):c.136_138+1del GRCh37: Chr16:2098751-2098754 GRCh38: Chr16:2048750-2048753	TSC2		Tuberous sclerosis 2	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 4967533.	NM_000548.5(TSC2):c.138_138+1del GRCh37: Chr16:2098751-2098752 GRCh38: Chr16:2048750-2048751	TSC2		not provided, Tuberous sclerosis 2	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5018834.	NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) GRCh37: Chr16:2098752 GRCh38: Chr16:2048751	TSC2	R46, R57	Tuberous sclerosis 2	Pathogenic (Apr 9, 2020)	criteria provided, single submitter
Select item 4915535.	NM_000548.5(TSC2):c.138+2T>C GRCh37: Chr16:2098756 GRCh38: Chr16:2048755	TSC2		not provided, Tuberous sclerosis 2	Pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106993536.	NM_000548.5(TSC2):c.138+5G>C GRCh37: Chr16:2098759 GRCh38: Chr16:2048758	TSC2		Tuberous sclerosis 2	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 5019237.	NM_000548.5(TSC2):c.138+5G>A GRCh37: Chr16:2098759 GRCh38: Chr16:2048758	TSC2		Lymphangiomyomatosis, Isolated focal cortical dysplasia type II, Tuberous sclerosis 2, not provided, Tuberous sclerosis 2	Pathogenic/Likely pathogenic (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58381838.	NC_000016.9:g.(?_2100381)_(2115656_?)dup GRCh37: Chr16:2100381-2115656 GRCh38: Chr16:2050380-2065655	TSC2		Tuberous sclerosis 2	Pathogenic (May 25, 2018)	criteria provided, single submitter
Select item 65466039.	NC_000016.10:g.(?_2050390)_(2050496_?)del GRCh37: Chr16:2100391-2100497 GRCh38: Chr16:2050390-2050496	TSC2		Tuberous sclerosis 2	Pathogenic (Oct 29, 2018)	criteria provided, single submitter
Select item 86304340.	NM_000548.5(TSC2):c.139-2A>G GRCh37: Chr16:2100399 GRCh38: Chr16:2050398	TSC2		Tuberous sclerosis 2	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 57957641.	NM_000548.5(TSC2):c.139-1G>A GRCh37: Chr16:2100400 GRCh38: Chr16:2050399	TSC2		Tuberous sclerosis 2	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44872042.	NM_000548.5(TSC2):c.139G>T (p.Glu47Ter) GRCh37: Chr16:2100401 GRCh38: Chr16:2050400	TSC2	E47, E58	not provided	Pathogenic (Feb 20, 2017)	criteria provided, single submitter
Select item 177616443.	NM_000548.5(TSC2):c.160_161delinsG (p.Leu54fs) GRCh37: Chr16:2100422-2100423 GRCh38: Chr16:2050421-2050422	TSC2	L5fs, L65fs, L54fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 3, 2020)	criteria provided, single submitter
Select item 201170044.	NM_000548.5(TSC2):c.208del (p.Thr70fs) GRCh37: Chr16:2100466 GRCh38: Chr16:2050465	TSC2	T21fs, T70fs, T81fs	Tuberous sclerosis 2	Pathogenic (Jun 28, 2022)	criteria provided, single submitter
Select item 178774945.	NM_000548.5(TSC2):c.220G>T (p.Glu74Ter) GRCh37: Chr16:2100482 GRCh38: Chr16:2050481	TSC2	E85, E74, E25*	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 26, 2017)	criteria provided, single submitter
Select item 62619646.	NM_000548.5(TSC2):c.225+1G>A GRCh37: Chr16:2100488 GRCh38: Chr16:2050487	TSC2		Isolated focal cortical dysplasia type II, Lymphangiomyomatosis, Tuberous sclerosis 2, Tuberous sclerosis 2	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66068647.	NC_000016.10:g.(?_2053322)_(2057459_?)del GRCh37: Chr16:2103323-2107460 GRCh38: Chr16:2053322-2057459	TSC2		Tuberous sclerosis 2	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 4920048.	NM_000548.5(TSC2):c.226-2A>G GRCh37: Chr16:2103341 GRCh38: Chr16:2053340	TSC2		Tuberous sclerosis 2	Pathogenic (Sep 3, 2013)	criteria provided, single submitter
Select item 6518049.	NM_000548.5(TSC2):c.226-1G>A GRCh37: Chr16:2103342 GRCh38: Chr16:2053341	TSC2		Tuberous sclerosis 2	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 178861650.	NM_000548.5(TSC2):c.226_228delinsTAA (p.His76Ter) GRCh37: Chr16:2103343-2103345 GRCh38: Chr16:2053342-2053344	TSC2	H76, H87, H27*	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 14, 2020)	criteria provided, single submitter
Select item 41736551.	NC_000016.10:g.(?_2053342)_(2060813_?)del GRCh37: Chr16:2103343-2110814 GRCh38: Chr16:2053342-2060813	TSC2		Tuberous sclerosis 2	Pathogenic (Apr 7, 2016)	criteria provided, single submitter
Select item 6491352.	NM_000548.5(TSC2):c.245G>A (p.Trp82Ter) GRCh37: Chr16:2103362 GRCh38: Chr16:2053361	TSC2	W82, W33, W93*	Tuberous sclerosis 2	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 58096353.	NM_000548.5(TSC2):c.246G>A (p.Trp82Ter) GRCh37: Chr16:2103363 GRCh38: Chr16:2053362	TSC2	W82, W33, W93*	Tuberous sclerosis 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 201440254.	NM_000548.5(TSC2):c.248del (p.Lys83fs) GRCh37: Chr16:2103364 GRCh38: Chr16:2053363	TSC2	K83fs, K94fs, K34fs	Tuberous sclerosis 2	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 202743055.	NM_000548.5(TSC2):c.252_304del (p.Val85fs) GRCh37: Chr16:2103367-2103419 GRCh38: Chr16:2053366-2053418	TSC2	V96fs, V36fs, V85fs	Tuberous sclerosis 2	Pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 203363156.	NM_000548.5(TSC2):c.267_268delinsTT (p.Leu89_Gln90delinsPheTer) GRCh37: Chr16:2103384-2103385 GRCh38: Chr16:2053383-2053384	TSC2		Tuberous sclerosis 2	Pathogenic (Oct 1, 2022)	criteria provided, single submitter
Select item 4973857.	NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) GRCh37: Chr16:2103385 GRCh38: Chr16:2053384	TSC2	Q90, Q41, Q101*	not provided, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome	Pathogenic (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209711258.	NM_000548.5(TSC2):c.294dup (p.His99fs) GRCh37: Chr16:2103409-2103410 GRCh38: Chr16:2053408-2053409	TSC2	H110fs, H50fs, H99fs	Tuberous sclerosis 2	Pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 85912459.	NM_000548.5(TSC2):c.311T>C (p.Leu104Pro) GRCh37: Chr16:2103428 GRCh38: Chr16:2053427	TSC2	L104P, L115P, L55P	Tuberous sclerosis 2	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 85630860.	NM_000548.5(TSC2):c.322dup (p.Ile108fs) GRCh37: Chr16:2103438-2103439 GRCh38: Chr16:2053437-2053438	TSC2	I59fs, I119fs, I108fs	Tuberous sclerosis 2	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 42358861.	NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) GRCh37: Chr16:2103445 GRCh38: Chr16:2053444	TSC2	Q110, Q121, Q61*	Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58685462.	NM_000548.5(TSC2):c.329del (p.Gln110fs) GRCh37: Chr16:2103446 GRCh38: Chr16:2053445	TSC2	Q110fs, Q61fs, Q121fs	not provided	Pathogenic (Jun 4, 2018)	criteria provided, single submitter
Select item 65672063.	NM_000548.5(TSC2):c.335_336+14del GRCh37: Chr16:2103448-2103463 GRCh38: Chr16:2053447-2053462	TSC2		Tuberous sclerosis 2	Likely pathogenic (Oct 22, 2018)	criteria provided, single submitter
Select item 210960264.	NM_000548.5(TSC2):c.336+1G>T GRCh37: Chr16:2103454 GRCh38: Chr16:2053453	TSC2	V64L, V113L	Tuberous sclerosis 2	Pathogenic/Likely pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53593565.	NM_000548.5(TSC2):c.336+1G>C GRCh37: Chr16:2103454 GRCh38: Chr16:2053453	TSC2		Tuberous sclerosis 2	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 5006466.	NM_000548.5(TSC2):c.336+1G>A GRCh37: Chr16:2103454 GRCh38: Chr16:2053453	TSC2		Tuberous sclerosis 2	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 38883267.	NM_000548.5(TSC2):c.336+5G>C GRCh37: Chr16:2103458 GRCh38: Chr16:2053457	TSC2		Tuberous sclerosis 2, not provided	Pathogenic/Likely pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 211361268.	NM_000548.5(TSC2):c.337-2A>C GRCh37: Chr16:2104295 GRCh38: Chr16:2054294	TSC2		Tuberous sclerosis 2	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 6503869.	NM_000548.5(TSC2):c.337-1G>A GRCh37: Chr16:2104296 GRCh38: Chr16:2054295	TSC2		Tuberous sclerosis 2, not provided	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4925370.	NM_000548.5(TSC2):c.337-1G>T GRCh37: Chr16:2104296 GRCh38: Chr16:2054295	TSC2		Hereditary cancer-predisposing syndrome	Pathogenic (May 21, 2018)	criteria provided, single submitter
Select item 6503371.	NM_000548.5(TSC2):c.340G>T (p.Glu114Ter) GRCh37: Chr16:2104300 GRCh38: Chr16:2054299	TSC2	E114, E65, E125, E77	Tuberous sclerosis 2	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 57955272.	NM_000548.5(TSC2):c.347del (p.Leu116fs) GRCh37: Chr16:2104305 GRCh38: Chr16:2054304	TSC2	L67fs, L116fs, L127fs, L79fs	Tuberous sclerosis 2	Pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 4926273.	NM_000548.5(TSC2):c.352dup (p.Val118fs) GRCh37: Chr16:2104307-2104308 GRCh38: Chr16:2054306-2054307	TSC2	V81fs, V69fs, V129fs, V118fs	Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, not provided	Pathogenic (Nov 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145171574.	NM_000548.5(TSC2):c.352del (p.Val118fs) GRCh37: Chr16:2104308 GRCh38: Chr16:2054307	TSC2	V129fs, V81fs, V118fs, V69fs	Tuberous sclerosis 2	Pathogenic (Oct 7, 2021)	criteria provided, single submitter
Select item 138576175.	NM_000548.5(TSC2):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAGCCCTCTTCTTT (p.Lys125delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer) GRCh37: Chr16:2104317-2104318 GRCh38: Chr16:2054316-2054317	TSC2		Tuberous sclerosis 2	Pathogenic (Sep 19, 2021)	criteria provided, single submitter
Select item 42980576.	NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) GRCh37: Chr16:2104318 GRCh38: Chr16:2054317	TSC2	R120, R131, R71, R83	Tuberous sclerosis 2, not provided	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23097477.	NM_000548.5(TSC2):c.360_361del (p.Arg120fs) GRCh37: Chr16:2104318-2104319 GRCh38: Chr16:2054317-2054318	TSC2	R131fs, R120fs, R71fs, R83fs	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 23, 2015)	criteria provided, single submitter
Select item 92951078.	NM_000548.5(TSC2):c.364del (p.Leu122fs) GRCh37: Chr16:2104322 GRCh38: Chr16:2054321	TSC2	L122fs, L133fs, L73fs, L85fs	Tuberous sclerosis 2	Pathogenic (Jun 11, 2020)	no assertion criteria provided
Select item 80314779.	NM_000548.5(TSC2):c.400G>T (p.Glu134Ter) GRCh37: Chr16:2104360 GRCh38: Chr16:2054359	TSC2	E145, E85, E134, E97	Tuberous sclerosis 2	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 48904680.	NM_000548.5(TSC2):c.412G>T (p.Glu138Ter) GRCh37: Chr16:2104372 GRCh38: Chr16:2054371	TSC2	E138, E149, E89, E101	not provided	Pathogenic (Aug 10, 2017)	criteria provided, single submitter
Select item 40598581.	NM_000548.5(TSC2):c.421G>T (p.Glu141Ter) GRCh37: Chr16:2104381 GRCh38: Chr16:2054380	TSC2	E141, E92, E104, E152	Tuberous sclerosis 2	Pathogenic (Jun 27, 2016)	criteria provided, single submitter
Select item 37361782.	NM_000548.5(TSC2):c.428del (p.Phe143fs) GRCh37: Chr16:2104385 GRCh38: Chr16:2054384	TSC2	F154fs, F143fs, F94fs, F106fs	not provided	Pathogenic (Nov 25, 2016)	criteria provided, single submitter
Select item 4988783.	NM_000548.5(TSC2):c.440_441del (p.Thr147fs) GRCh37: Chr16:2104398-2104399 GRCh38: Chr16:2054397-2054398	TSC2	T110fs, T158fs, T147fs, T98fs	Tuberous sclerosis 2	Pathogenic (Jun 7, 2019)	criteria provided, single submitter
Select item 53589284.	NM_000548.5(TSC2):c.440C>A (p.Thr147Lys) GRCh37: Chr16:2104400 GRCh38: Chr16:2054399	TSC2	T147K, T158K, T98K, T110K	Tuberous sclerosis 2	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 210555485.	NM_000548.5(TSC2):c.472G>T (p.Glu158Ter) GRCh37: Chr16:2104432 GRCh38: Chr16:2054431	TSC2	E109, R9S, E169, E188, E121, E139, E158	Tuberous sclerosis 2	Pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 53591386.	NM_000548.5(TSC2):c.475G>T (p.Glu159Ter) GRCh37: Chr16:2104435 GRCh38: Chr16:2054434	TSC2	E159, E170, E110, E122	Tuberous sclerosis 2	Pathogenic (Dec 15, 2017)	criteria provided, single submitter
Select item 4931987.	NM_000548.5(TSC2):c.478C>G (p.Leu160Val) GRCh37: Chr16:2104438 GRCh38: Chr16:2054437	TSC2	L160V, L171V, L111V, L123V	not provided	Likely pathogenic (May 10, 2017)	criteria provided, single submitter
Select item 107712888.	NM_000548.5(TSC2):c.481+1G>A GRCh37: Chr16:2104442 GRCh38: Chr16:2054441	TSC2		Cortical tubers, Focal cortical dysplasia, Tuberous sclerosis 2	Pathogenic (Jul 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4932189.	NM_000548.5(TSC2):c.481+1G>T GRCh37: Chr16:2104442 GRCh38: Chr16:2054441	TSC2		Tuberous sclerosis syndrome	Pathogenic (Jun 15, 2018)	criteria provided, single submitter
Select item 6498890.	NM_000548.5(TSC2):c.481+5G>A GRCh37: Chr16:2104446 GRCh38: Chr16:2054445	TSC2		Tuberous sclerosis 2	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 4982591.	NM_000548.5(TSC2):c.481+5G>T GRCh37: Chr16:2104446 GRCh38: Chr16:2054445	TSC2		not provided	Pathogenic (Feb 1, 2017)	criteria provided, single submitter
Select item 44978692.	NM_000548.5(TSC2):c.482-1G>A GRCh37: Chr16:2105402 GRCh38: Chr16:2055401	TSC2		not provided	Pathogenic (Aug 10, 2016)	criteria provided, single submitter
Select item 4982693.	NM_000548.5(TSC2):c.482-1G>C GRCh37: Chr16:2105402 GRCh38: Chr16:2055401	TSC2		Tuberous sclerosis 2	Likely pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 4987994.	NM_000548.5(TSC2):c.488_489del (p.Phe163fs) GRCh37: Chr16:2105408-2105409 GRCh38: Chr16:2055407-2055408	TSC2	F114fs, F163fs, F126fs, F174fs	not provided, Tuberous sclerosis 2	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4981995.	NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) GRCh37: Chr16:2105417 GRCh38: Chr16:2055416	TSC2	Q166, Q177, Q117, Q129	not provided, Tuberous sclerosis 2	Pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 201937496.	NM_000548.5(TSC2):c.501_508del (p.Trp167fs) GRCh37: Chr16:2105420-2105427 GRCh38: Chr16:2055419-2055426	TSC2	W118fs, W178fs, W130fs, W167fs	Tuberous sclerosis 2	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 43012997.	NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) GRCh37: Chr16:2105421 GRCh38: Chr16:2055420	TSC2	W167, W178, W118, W130	Tuberous sclerosis 2, not provided	Pathogenic (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93027798.	NM_000548.5(TSC2):c.501G>A (p.Trp167Ter) GRCh37: Chr16:2105422 GRCh38: Chr16:2055421	TSC2	W130, W178, W118, W167	Lymphangiomyomatosis	Pathogenic (Nov 14, 2018)	criteria provided, single submitter
Select item 81712999.	NM_000548.5(TSC2):c.506del (p.Asp169fs) GRCh37: Chr16:2105427 GRCh38: Chr16:2055426	TSC2	D120fs, D169fs, D132fs, D180fs	not provided	Pathogenic (Jul 3, 2018)	criteria provided, single submitter
Select item 2102073100.	NM_000548.5(TSC2):c.515dup (p.Leu172fs) GRCh37: Chr16:2105434-2105435 GRCh38: Chr16:2055433-2055434	TSC2	L135fs, L123fs, L172fs, L183fs	Tuberous sclerosis 2	Pathogenic (Feb 22, 2022)	criteria provided, single submitter

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