| - GRCh37:
- Chr9:135779119
- GRCh38:
- Chr9:132903732
| TSC1 | R358fs, R391fs, R392fs, R587fs, R588fs, R657fs, R658fs, R703fs, R704fs, R708fs, R709fs | Tuberous sclerosis 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776976
- GRCh38:
- Chr9:132901589
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(May 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135779113-135779114
- GRCh38:
- Chr9:132903726-132903727
| TSC1 | H591fs, H661fs, H711fs, H712fs | Tuberous sclerosis 1 | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135779172-135779173
- GRCh38:
- Chr9:132903785-132903786
| TSC1 | R341*, R374*, R375*, R570*, R571*, R640*, R641*, R686*, R687*, R691*, R692* | Tuberous sclerosis 1 | Pathogenic
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781484
- GRCh38:
- Chr9:132906097
| TSC1 | A143V, A176V, A177V, A372V, A373V, A442V, A443V, A493V, A494V | Tuberous sclerosis 1 | Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135139626-140034216
| FCN1, GLT6D1, GFI1B, GPSM1, GRIN1, GTF3C4, FUT7, FCN2, GBGT1, ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 | | Rafiq syndrome, Leigh syndrome, Tuberous sclerosis 1,
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5 | Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135775735-135866437
| TSC1, GFI1B | | Tuberous sclerosis 1 | Uncertain significance
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135820391-135821434
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(Nov 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135771622-135773017
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135771184-135781738
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135798715-135798899
| TSC1 | | Tuberous sclerosis 1 | Pathogenic
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135771892
- GRCh38:
- Chr9:132896505
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786840
- GRCh38:
- Chr9:132911453
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135773006-135773007
- GRCh38:
- Chr9:132897619-132897620
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772682
- GRCh38:
- Chr9:132897295
| TSC1 | T604I, T637I, T638I, T819I, T820I, T833I, T834I, T889I, T903I, T904I, T940I, T941I, T949I, T950I, T954I, T955I | Tuberous sclerosis 1 | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135796840
- GRCh38:
- Chr9:132921453
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135797318
- GRCh38:
- Chr9:132921931
| TSC1 | V184A, V133A, V63A | Tuberous sclerosis 1 | Uncertain significance
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135780955
- GRCh38:
- Chr9:132905568
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Dec 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781161
- GRCh38:
- Chr9:132905774
| TSC1 | P481S, P251S, P480S, P550S, P551S, P284S, P602S, P285S, P601S | Tuberous sclerosis 1 | Uncertain significance
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135801051
- GRCh38:
- Chr9:132925664
| TSC1 | V96I | Tuberous sclerosis 1 | Uncertain significance
(Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776240
- GRCh38:
- Chr9:132900853
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135780949
- GRCh38:
- Chr9:132905562
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772723
- GRCh38:
- Chr9:132897336
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772154
- GRCh38:
- Chr9:132896767
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781484
- GRCh38:
- Chr9:132906097
| TSC1 | A493G, A177G, A373G, A443G, A176G, A494G, A143G, A372G, A442G | Tuberous sclerosis 1 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135773000-135773001
- GRCh38:
- Chr9:132897613-132897614
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772820
- GRCh38:
- Chr9:132897433
| TSC1 | L584V, L799V, L800V, L814V, L869V, L883V, L921V, L813V, L884V, L920V, L935V, L617V, L618V, L929V, L930V, L934V | Tuberous sclerosis 1 | Uncertain significance
(Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786090
- GRCh38:
- Chr9:132910703
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135804137
- GRCh38:
- Chr9:132928750
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135820248-135820249
- GRCh38:
- Chr9:132944861-132944862
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776994
- GRCh38:
- Chr9:132901607
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135777101
- GRCh38:
- Chr9:132901714
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781340
- GRCh38:
- Chr9:132905953
| TSC1 | K191R, K420R, K542R, K225R, K421R, K490R, K541R, K224R, K491R | Tuberous sclerosis 1 | Uncertain significance
(Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135779216
- GRCh38:
- Chr9:132903829
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776189
- GRCh38:
- Chr9:132900802
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Nov 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781331
- GRCh38:
- Chr9:132905944
| TSC1 | P227L, P424L, P494L, P544L, P545L, P423L, P194L, P228L, P493L | Tuberous sclerosis 1 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786375
- GRCh38:
- Chr9:132910988
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135802652
- GRCh38:
- Chr9:132927265
| TSC1 | Y49F | Tuberous sclerosis 1 | Uncertain significance
(Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772751
- GRCh38:
- Chr9:132897364
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786902
- GRCh38:
- Chr9:132911515
| TSC1 | P202A, P272A, P323A, P6A | Tuberous sclerosis 1 | Likely benign
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772647
- GRCh38:
- Chr9:132897260
| TSC1 | G901C, G916C, G961C, G967C, G616C, G831C, G845C, G846C, G915C, G952C, G953C, G966C, G650C, G649C, G832C, G962C | Tuberous sclerosis 1 | Uncertain significance
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135787654
- GRCh38:
- Chr9:132912267
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135787649
- GRCh38:
- Chr9:132912262
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135787671
- GRCh38:
- Chr9:132912284
| TSC1 | Y183C, Y253C, Y304C | Tuberous sclerosis 1 | Uncertain significance
(Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786062
- GRCh38:
- Chr9:132910675
| TSC1 | P265S, P266S, P70S, P336S, P36S, P335S, P386S, P387S, P69S | Tuberous sclerosis 1 | Uncertain significance
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786852
- GRCh38:
- Chr9:132911465
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135779783
- GRCh38:
- Chr9:132904396
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786397
- GRCh38:
- Chr9:132911010
| TSC1 | G378D, G61D, G257D, G327D, G28D | Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome | Uncertain significance
(May 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135786841
- GRCh38:
- Chr9:132911454
| TSC1 | Q222L, Q292L, Q26L, Q343L | Tuberous sclerosis 1 | Uncertain significance
(Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135804144
- GRCh38:
- Chr9:132928757
| TSC1 | | Tuberous sclerosis 1 | Benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786853-135786854
- GRCh38:
- Chr9:132911466-132911467
| TSC1 | T218fs, T339fs, T288fs | Tuberous sclerosis 1 | Pathogenic
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786095
- GRCh38:
- Chr9:132910708
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786928
- GRCh38:
- Chr9:132911541
| TSC1 | T263R, T314R, T193R | Tuberous sclerosis 1 | Uncertain significance
(Nov 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781358
- GRCh38:
- Chr9:132905971
| TSC1 | L485*, L536*, L484*, L185*, L414*, L415*, L218*, L219*, L535* | Tuberous sclerosis 1 | Pathogenic
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781004
- GRCh38:
- Chr9:132905617
| TSC1 | Q303R, Q336R, Q533R, Q603R, Q653R, Q337R, Q532R, Q602R, Q654R | Tuberous sclerosis 1 | Uncertain significance
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781150
- GRCh38:
- Chr9:132905763
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135797258
- GRCh38:
- Chr9:132921871
| TSC1 | R153L, R204L, R83L | Tuberous sclerosis 1 | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135797227
- GRCh38:
- Chr9:132921840
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135779054
- GRCh38:
- Chr9:132903667
| TSC1 | E609A, E610A, E725A, E731A, E380A, E413A, E679A, E726A, E414A, E680A, E730A | Tuberous sclerosis 1 | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135782142
- GRCh38:
- Chr9:132906755
| TSC1 | S350G, S420G, S472G, S121G, S421G, S471G, S154G, S155G, S351G | Tuberous sclerosis 1 | Uncertain significance
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135773007
- GRCh38:
- Chr9:132897620
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781514
- GRCh38:
- Chr9:132906127
| TSC1 | R133K, R362K, R432K, R483K, R484K, R167K, R433K, R166K, R363K | Tuberous sclerosis 1 | Uncertain significance
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772744
- GRCh38:
- Chr9:132897357
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135798851
- GRCh38:
- Chr9:132923464
| TSC1 | T131I, T10I, T80I | Tuberous sclerosis 1 | Uncertain significance
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135782241
- GRCh38:
- Chr9:132906854
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781051
- GRCh38:
- Chr9:132905664
| TSC1 | D321E, D638E, D517E, D586E, D287E, D587E, D637E, D320E, D516E | Tuberous sclerosis 1 | Uncertain significance
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135802705
- GRCh38:
- Chr9:132927318
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135796808
- GRCh38:
- Chr9:132921421
| TSC1 | V227M, V176M, V106M | Tuberous sclerosis 1 | Uncertain significance
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135782104
- GRCh38:
- Chr9:132906717
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135804168
- GRCh38:
- Chr9:132928781
| TSC1 | E31fs | Tuberous sclerosis 1 | Pathogenic
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135776975
- GRCh38:
- Chr9:132901588
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135771987
- GRCh38:
- Chr9:132896600
| TSC1 | E1029Q, E992Q, E1038Q, E1039Q, E726Q, E908Q, E993Q, E693Q, E909Q, E923Q, E978Q, E1030Q, E1043Q, E1044Q, E727Q, E922Q | Tuberous sclerosis 1 | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781483
- GRCh38:
- Chr9:132906096
| TSC1 | | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1 | Likely benign
(Feb 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:135800988
- GRCh38:
- Chr9:132925601
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135804136
- GRCh38:
- Chr9:132928749
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772750
- GRCh38:
- Chr9:132897363
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135780980
- GRCh38:
- Chr9:132905593
| TSC1 | K540T, K311T, K541T, K662T, K344T, K345T, K610T, K611T, K661T | Tuberous sclerosis 1 | Uncertain significance
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135782724
- GRCh38:
- Chr9:132907337
| TSC1 | H312N, H382N, H311N, H381N, H432N, H433N, H115N, H116N, H82N | Tuberous sclerosis 1 | Uncertain significance
(Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772722
- GRCh38:
- Chr9:132897335
| TSC1 | Q936E, Q624E, Q807E, Q927E, Q941E, Q625E, Q806E, Q890E, Q891E, Q928E, Q942E, Q591E, Q820E, Q821E, Q876E, Q937E | Tuberous sclerosis 1 | Uncertain significance
(Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135798730
- GRCh38:
- Chr9:132923343
| TSC1 | | Tuberous sclerosis 1 | Uncertain significance
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135800956
- GRCh38:
- Chr9:132925569
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778143
- GRCh38:
- Chr9:132902756
| TSC1 | I696T, I742T, I746T, I430T, I429T, I625T, I396T, I626T, I695T, I741T, I747T | Tuberous sclerosis 1 | Uncertain significance
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135778019
- GRCh38:
- Chr9:132902632
| TSC1 | E471D, E666D, E782D, E788D, E470D, E783D, E787D, E667D, E736D, E737D, E437D | Tuberous sclerosis 1 | Uncertain significance
(Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135796834
- GRCh38:
- Chr9:132921447
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135785983
- GRCh38:
- Chr9:132910596
| TSC1 | Q291P, Q362P, Q412P, Q96P, Q292P, Q62P, Q95P, Q361P, Q413P | Tuberous sclerosis 1 | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135771711
- GRCh38:
- Chr9:132896324
| TSC1 | D1014N, D1084N, D1131N, D1135N, D1136N, D1015N, D1121N, D785N, D1000N, D1001N, D1070N, D1085N, D1122N, D1130N, D818N, D819N | Tuberous sclerosis 1 | Uncertain significance
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772698
- GRCh38:
- Chr9:132897311
| TSC1 | A599T, A632T, A815T, A899T, A936T, A814T, A633T, A829T, A884T, A935T, A944T, A828T, A898T, A945T, A949T, A950T | Tuberous sclerosis 1 | Uncertain significance
(Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135798893
- GRCh38:
- Chr9:132923506
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135782724
- GRCh38:
- Chr9:132907337
| TSC1 | H116Y, H312Y, H433Y, H381Y, H432Y, H311Y, H382Y, H115Y, H82Y | Tuberous sclerosis 1 | Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135797215
- GRCh38:
- Chr9:132921828
| TSC1 | E97D, E218D, E167D | Tuberous sclerosis 1 | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772978
- GRCh38:
- Chr9:132897591
| TSC1 | A760G, A761G, A830G, A876G, A531G, A564G, A565G, A882G, A747G, A816G, A868G, A877G, A746G, A831G, A867G, A881G | Tuberous sclerosis 1 | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772561
- GRCh38:
- Chr9:132897174
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135786478
- GRCh38:
- Chr9:132911091
| TSC1 | M1T, M300T, M230T, M351T, M34T | Tuberous sclerosis 1 | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135781349-135781358
- GRCh38:
- Chr9:132905962-132905971
| TSC1 | L485fs, L535fs, L415fs, L536fs | Tuberous sclerosis 1 | Pathogenic
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135801046-135801047
- GRCh38:
- Chr9:132925659-132925660
| TSC1 | I97fs | Tuberous sclerosis 1 | Pathogenic
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135782138
- GRCh38:
- Chr9:132906751
| TSC1 | I351S, I421S, I472S, I473S, I155S, I156S, I122S, I352S, I422S | Tuberous sclerosis 1 | Uncertain significance
(Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135782209
- GRCh38:
- Chr9:132906822
| TSC1 | | Tuberous sclerosis 1 | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135797244
- GRCh38:
- Chr9:132921857
| TSC1 | M209L, M88L, M158L | Tuberous sclerosis 1 | Uncertain significance
(Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135772052
- GRCh38:
- Chr9:132896665
| TSC1 | R1007K, R1008K, R1022K, R704K, R705K, R971K, R886K, R887K, R900K, R901K, R970K, R1016K, R1017K, R671K, R1021K, R956K | Tuberous sclerosis 1 | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:135801018
- GRCh38:
- Chr9:132925631
| TSC1 | L107F | Tuberous sclerosis 1 | Uncertain significance
(Mar 2, 2022) | criteria provided, single submitter |