| - GRCh37:
- Chr9:135771602-135804279
- GRCh38:
- Chr9:132896215-132928892
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Aug 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135771602-135779861
- GRCh38:
- Chr9:132896215-132904474
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135771616-135804265
- GRCh38:
- Chr9:132896229-132928878
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Dec 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772680
- GRCh38:
- Chr9:132897293
| TSC1 | Q956*, Q835*, Q905*, Q955* | not provided | Pathogenic
(Apr 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772695
- GRCh38:
- Chr9:132897308
| TSC1 | Q634*, Q936*, Q951*, Q600*, Q816*, Q885*, Q900*, Q945*, Q830*, Q946*, Q633*, Q815*, Q829*, Q899*, Q937*, Q950* | Tuberous sclerosis 1 | Pathogenic
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772722
- GRCh38:
- Chr9:132897335
| TSC1 | Q806*, Q876*, Q941*, Q624*, Q807*, Q821*, Q928*, Q591*, Q625*, Q937*, Q942*, Q820*, Q890*, Q891*, Q927*, Q936* | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772728
- GRCh38:
- Chr9:132897341
| TSC1 | Q939*, Q889*, Q940*, Q819* | Tuberous sclerosis syndrome, Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772733
- GRCh38:
- Chr9:132897346
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772734
- GRCh38:
- Chr9:132897347
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Sep 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772808
- GRCh38:
- Chr9:132897421
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Feb 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772809
- GRCh38:
- Chr9:132897422
| TSC1 | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772817
- GRCh38:
- Chr9:132897430
| TSC1 | Q936*, Q885*, Q815*, Q935* | Tuberous sclerosis 1, not provided | Pathogenic/Likely pathogenic
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772847
- GRCh38:
- Chr9:132897460
| TSC1 | Q926*, Q925*, Q875*, Q805* | Tuberous sclerosis 1, Lymphangiomyomatosis, Tuberous sclerosis 1,
Isolated focal cortical dysplasia type II | Pathogenic
(Feb 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772851-135772852
- GRCh38:
- Chr9:132897464-132897465
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772852
- GRCh38:
- Chr9:132897465
| TSC1 | L924fs, L803fs, L873fs, L923fs | not provided | Pathogenic
(Apr 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772876-135772880
- GRCh38:
- Chr9:132897489-132897493
| TSC1 | H864fs, H915fs, H794fs, H914fs | Tuberous sclerosis 1 | Pathogenic
(Jul 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772878-135772879
- GRCh38:
- Chr9:132897491-132897492
| TSC1 | H864fs, H794fs, H914fs, H915fs | Tuberous sclerosis 1 | Pathogenic
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772902
- GRCh38:
- Chr9:132897515
| TSC1 | K786fs, K907fs, K856fs, K906fs | Tuberous sclerosis 1 | Pathogenic
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772906-135772907
- GRCh38:
- Chr9:132897519-132897520
| TSC1 | Q905fs, Q855fs, Q785fs, Q906fs | Tuberous sclerosis 1 | Pathogenic
(Dec 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772907
- GRCh38:
- Chr9:132897520
| TSC1 | Q906*, Q785*, Q855*, Q905* | not provided, Tuberous sclerosis 1 | Pathogenic
(Dec 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772923-135772924
- GRCh38:
- Chr9:132897536-132897537
| TSC1 | L781fs, L851fs, L901fs, L902fs | not provided | Likely pathogenic
(Apr 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772925
- GRCh38:
- Chr9:132897538
| TSC1 | Q900*, Q779*, Q899*, Q849* | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1, not provided
| Pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772931
- GRCh38:
- Chr9:132897544
| TSC1 | Q898*, Q847*, Q897*, Q777* | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1 | Pathogenic
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772934
- GRCh38:
- Chr9:132897547
| TSC1 | Q897*, Q776*, Q846*, Q896* | not provided, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
| Pathogenic
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772943
- GRCh38:
- Chr9:132897556
| TSC1 | H843fs, H893fs, H894fs, H773fs | Tuberous sclerosis 1 | Pathogenic
(Oct 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772947-135772948
- GRCh38:
- Chr9:132897560-132897561
| TSC1 | R841fs, R891fs, R892fs, R771fs | Tuberous sclerosis 1 | Pathogenic
(Sep 25, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772949
- GRCh38:
- Chr9:132897562
| TSC1 | R771fs, R841fs, R891fs, R892fs | Tuberous sclerosis 1 | Pathogenic
(Jan 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772949
- GRCh38:
- Chr9:132897562
| TSC1 | R841*, R771*, R891*, R892* | Tuberous sclerosis 1 | Pathogenic
(May 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772949-135772952
- GRCh38:
- Chr9:132897562-132897565
| TSC1 | N770fs, N840fs, N890fs, N891fs | Tuberous sclerosis 1 | Pathogenic
(Jun 9, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:135772950-135772951
- GRCh38:
- Chr9:132897563-132897564
| TSC1 | N840fs, N770fs, N890fs, N891fs | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1 | Pathogenic
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772950-135772951
- GRCh38:
- Chr9:132897563-132897564
| TSC1 | N840fs, N770fs, N890fs, N891fs | Tuberous sclerosis 1 | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772951
- GRCh38:
- Chr9:132897564
| TSC1 | N890fs, N770fs, N840fs, N891fs | Tuberous sclerosis 1 | Pathogenic
(Nov 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772967
- GRCh38:
- Chr9:132897580
| TSC1 | K886*, K765*, K885*, K835* | not provided | Pathogenic
(May 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772974
- GRCh38:
- Chr9:132897587
| TSC1 | Y763fs, Y833fs, Y883fs, Y884fs | Tuberous sclerosis 1 | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772982
- GRCh38:
- Chr9:132897595
| TSC1 | K881*, K830*, K760*, K880* | not provided | Pathogenic
(Sep 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772983
- GRCh38:
- Chr9:132897596
| TSC1 | M759fs, M829fs, M879fs, M880fs | not provided | Pathogenic
(Jan 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772988
- GRCh38:
- Chr9:132897601
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Feb 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772991
- GRCh38:
- Chr9:132897604
| TSC1 | E757*, E827*, E877*, E878* | not provided | Pathogenic
(Dec 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772997
- GRCh38:
- Chr9:132897610
| TSC1 | E876*, E825*, E875*, E755* | not provided, Tuberous sclerosis 1 | Pathogenic
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772998
- GRCh38:
- Chr9:132897611
| TSC1 | | Tuberous sclerosis 1 | Pathogenic/Likely pathogenic
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135772999
- GRCh38:
- Chr9:132897612
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772999
- GRCh38:
- Chr9:132897612
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135775735
- GRCh38:
- Chr9:132900348
| TSC1 | | not provided, Tuberous sclerosis 1 | Pathogenic/Likely pathogenic
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776102-135787844
- GRCh38:
- Chr9:132900715-132912457
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776115
- GRCh38:
- Chr9:132900728
| TSC1 | S820*, S870*, S871*, S750* | Tuberous sclerosis 1 | Pathogenic
(Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776122
- GRCh38:
- Chr9:132900735
| TSC1 | K748*, K868*, K818*, K869* | Tuberous sclerosis 1 | Pathogenic
(Feb 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776128
- GRCh38:
- Chr9:132900741
| TSC1 | Q746*, Q816*, Q866*, Q867* | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1 | Pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776134
- GRCh38:
- Chr9:132900747
| TSC1 | Q865*, Q814*, Q744*, Q864* | not provided, Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
| Pathogenic
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776137
- GRCh38:
- Chr9:132900750
| TSC1 | E863*, E864*, E743*, E813* | Tuberous sclerosis 1 | Pathogenic
(Apr 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776145
- GRCh38:
- Chr9:132900758
| TSC1 | L740fs, L810fs, L860fs, L861fs | Tuberous sclerosis 1 | Pathogenic
(Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776158
- GRCh38:
- Chr9:132900771
| TSC1 | E806fs, E736fs, E856fs | not provided | Pathogenic
(Oct 17, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776161-135776182
- GRCh38:
- Chr9:132900774-132900795
| TSC1 | N728fs, N848fs, N849fs, N798fs | Tuberous sclerosis 1 | Pathogenic
(Apr 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776165-135776168
- GRCh38:
- Chr9:132900778-132900781
| TSC1 | L732fs, L802fs, L852fs | Tuberous sclerosis 1 | Pathogenic
(Sep 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776167-135776168
- GRCh38:
- Chr9:132900780-132900781
| TSC1 | V733fs, V803fs, V853fs, V854fs | Tuberous sclerosis 1 | Pathogenic
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776171
- GRCh38:
- Chr9:132900784
| TSC1 | L732fs, L852fs, L802fs, L853fs | Tuberous sclerosis 1 | Pathogenic
(Jun 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776175-135776181
- GRCh38:
- Chr9:132900788-132900794
| TSC1 | N848fs, N728fs, N798fs, N849fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776176
- GRCh38:
- Chr9:132900789
| TSC1 | Q851*, Q850*, Q730*, Q800* | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1 | Pathogenic
(Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776180
- GRCh38:
- Chr9:132900793
| TSC1 | N728fs, N798fs, N848fs, N849fs | Tuberous sclerosis 1 | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776197
- GRCh38:
- Chr9:132900810
| TSC1 | Q844*, Q793*, Q843*, Q723* | Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776203
- GRCh38:
- Chr9:132900816
| TSC1 | Q842*, Q791*, Q721*, Q841* | not provided, Tuberous sclerosis 1 | Pathogenic
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776209-135776212
- GRCh38:
- Chr9:132900822-132900825
| TSC1 | E788fs, E839fs, E838fs, E718fs | Tuberous sclerosis 1, not provided | Pathogenic
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776215-135776218
- GRCh38:
- Chr9:132900828-132900831
| TSC1 | N716fs, N837fs, N786fs, N836fs | not provided, Lymphangiomyomatosis, Tuberous sclerosis 1,
Seizure, Multiple renal cysts, Cortical tubers
| Pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776216-135776217
- GRCh38:
- Chr9:132900829-132900830
| TSC1 | N716fs, N837fs, N836fs, N786fs | Tuberous sclerosis 1 | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776220
- GRCh38:
- Chr9:132900833
| TSC1 | S836*, S715*, S785*, S835* | Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776225
- GRCh38:
- Chr9:132900838
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135776226
- GRCh38:
- Chr9:132900839
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776875-135778432
- GRCh38:
- Chr9:132901488-132903045
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776967-135776974
- GRCh38:
- Chr9:132901580-132901587
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776980-135776981
- GRCh38:
- Chr9:132901593-132901594
| TSC1 | Q712fs, Q782fs, Q832fs, Q833fs | not provided | Pathogenic
(Jan 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776988-135776991
- GRCh38:
- Chr9:132901601-132901604
| TSC1 | S708fs, S778fs, S828fs, S829fs | not provided | Pathogenic
(Dec 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776990
- GRCh38:
- Chr9:132901603
| TSC1 | Q830*, Q709*, Q779*, Q829* | Tuberous sclerosis 1 | Pathogenic
(Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776997-135776998
- GRCh38:
- Chr9:132901610-132901611
| TSC1 | L707fs, L777fs, L827fs, L828fs | Tuberous sclerosis 1, not provided | Pathogenic
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135777007-135777008
- GRCh38:
- Chr9:132901620-132901621
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Sep 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777032
- GRCh38:
- Chr9:132901645
| TSC1 | K695*, K765*, K815*, K816* | Tuberous sclerosis syndrome | Pathogenic
(Apr 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777038
- GRCh38:
- Chr9:132901651
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777077
- GRCh38:
- Chr9:132901690
| TSC1 | E801*, E800*, E680*, E750* | not provided | Pathogenic
(Mar 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777087-135777160
- GRCh38:
- Chr9:132901700-132901773
| TSC1 | | not provided | Likely pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777087
- GRCh38:
- Chr9:132901700
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777405-135779558
- GRCh38:
- Chr9:132902018-132904171
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777991
- GRCh38:
- Chr9:132902604
| TSC1 | | Tuberous sclerosis 1 | Likely pathogenic
(Oct 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777994
- GRCh38:
- Chr9:132902607
| TSC1 | Q797*, Q676*, Q746*, Q796* | not provided, Lymphangiomyomatosis, Isolated focal cortical dysplasia type II,
Tuberous sclerosis 1, Tuberous sclerosis 1 | Pathogenic
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135778003
- GRCh38:
- Chr9:132902616
| TSC1 | Q794*, Q743*, Q793*, Q673* | not provided, Tuberous sclerosis 1 | Pathogenic
(Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135778009
- GRCh38:
- Chr9:132902622
| TSC1 | Q787*, Q791*, Q670*, Q740*, Q792*, Q441*, Q474*, Q671*, Q741*, Q786*, Q475* | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778021
- GRCh38:
- Chr9:132902634
| TSC1 | E788*, E667*, E737*, E787* | Tuberous sclerosis 1 | Pathogenic
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778022-135778023
- GRCh38:
- Chr9:132902635-132902636
| TSC1 | E786fs, E736fs, E787fs, E666fs | Tuberous sclerosis 1 | Pathogenic
(Jul 31, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778023
- GRCh38:
- Chr9:132902636
| TSC1 | E786fs, E787fs, E736fs, E666fs | Tuberous sclerosis 1 | Pathogenic
(Oct 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778027
- GRCh38:
- Chr9:132902640
| TSC1 | R786*, R735*, R785*, R665* | not provided, Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
| Pathogenic
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135778036
- GRCh38:
- Chr9:132902649
| TSC1 | Q783*, Q732*, Q662*, Q782* | Tuberous sclerosis 1 | Pathogenic
(Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135778040-135778043
- GRCh38:
- Chr9:132902653-132902656
| TSC1 | R659fs, R729fs, R779fs, R780fs | Tuberous sclerosis 1 | Pathogenic
(Nov 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778040-135778041
- GRCh38:
- Chr9:132902653-132902654
| TSC1 | L781fs, L782fs, L661fs, L731fs | Tuberous sclerosis 1 | Pathogenic
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778042
- GRCh38:
- Chr9:132902655
| TSC1 | Q781*, Q660*, Q730*, Q780* | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1, Isolated focal cortical dysplasia type II,
Lymphangiomyomatosis, Tuberous sclerosis 1 | Pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135778045
- GRCh38:
- Chr9:132902658
| TSC1 | R780*, R659*, R779*, R729* | not provided, Tuberous sclerosis 1 | Pathogenic/Likely pathogenic
(Oct 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135778053-135778062
- GRCh38:
- Chr9:132902666-132902675
| TSC1 | K653fs, K773fs, K774fs, K723fs | Lymphangiomyomatosis | Pathogenic
(May 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778054
- GRCh38:
- Chr9:132902667
| TSC1 | S656fs, S726fs, S777fs, S776fs | Lymphangiomyomatosis | Pathogenic
(Nov 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778078-135778079
- GRCh38:
- Chr9:132902691-132902692
| TSC1 | D768*, D769*, D648*, D718* | Tuberous sclerosis 1 | Pathogenic
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778080-135778107
- GRCh38:
- Chr9:132902693-132902720
| TSC1 | A638fs, A758fs, A708fs, A759fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778090-135778091
- GRCh38:
- Chr9:132902703-132902704
| TSC1 | Q714fs, Q765fs, Q644fs, Q764fs | not provided | Pathogenic
(Feb 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778090
- GRCh38:
- Chr9:132902703
| TSC1 | Q765*, Q644*, Q714*, Q764* | Tuberous sclerosis 1, not provided | Pathogenic
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135778096
- GRCh38:
- Chr9:132902709
| TSC1 | Q763*, Q642*, Q712*, Q762* | Tuberous sclerosis 1 | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778100
- GRCh38:
- Chr9:132902713
| TSC1 | Y761*, Y640*, Y710*, Y760* | not provided | Pathogenic
(Feb 13, 2017) | criteria provided, single submitter |