Total 4025 pathogenic variants reported for Tuberous Sclerosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) SNV
Germline
Chr9:132912446 Pathogenic Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Single Submitter
CA008189 rs_118203447

3 SubmittersRCV000005404RCV000042356

NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) SNV
Germline
Chr9:132903665 Conflicting classifications of pathogenicity Focal cortical dysplasia of Taylor type 2B
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA006123 rs_118203657

32 SubmittersRCV000005409RCV000005410RCV000054851RCV000034607RCV000118692RCV000129684RCV000278906

NM_000368.5(TSC1):c.671T>G (p.Met224Arg) SNV
Germline
Chr9:132921429 Likely pathogenic Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA008014 rs_118203426

4 SubmittersRCV000005411RCV000042336

NM_000368.5(TSC1):c.539T>C (p.Leu180Pro) SNV
Germline
Chr9:132921943 Pathogenic Tuberous sclerosis 1
Tuberous sclerosis syndrome
No Assertion Criteria Provided
CA007706 rs_118203396

2 SubmittersRCV000005412RCV000042306

NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) SNV
Germline
Chr16:2087897 Pathogenic Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA021526 rs_45483392

19 SubmittersRCV000013201RCV000055436RCV000043065RCV000493720RCV002496339RCV002345240RCV004734515

NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) SNV
Germline
Chr16:2048649 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
No Assertion Criteria Provided
CA019229 rs_45512692

2 SubmittersRCV000013202RCV000042837

NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) SNV
Germline
Chr16:2064341 Pathogenic Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA015026 rs_45517179

13 SubmittersRCV000013204RCV000055539RCV000043399RCV000517734RCV000768350RCV002390103

NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) SNV
Germline/somatic
Chr16:2070571 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA015920 rs_28934872

20 SubmittersRCV000013205RCV000042946RCV000055317RCV000414340RCV000491426RCV000768118

NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) SNV
Germline
Chr16:2072293 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
No Assertion Criteria Provided
CA016832 rs_45517214

2 SubmittersRCV000013207RCV000042452

NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) SNV
Germline
Chr16:2063042 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA014795 rs_121964862

4 SubmittersRCV000013208RCV000042413RCV001839481

NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) SNV
Germline/somatic
Chr16:2060790 Pathogenic Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA013758 rs_45517148

7 SubmittersRCV000042986RCV000055263RCV000497801RCV001194675

NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) SNV
Germline
Chr16:2084965 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA020573 rs_45516293

11 SubmittersRCV000013210RCV000043266RCV000492813RCV002316192RCV003460465

NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) SNV
Germline
Chr16:2076142 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
TSC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA017951 rs_45517259

16 SubmittersRCV000013212RCV000042875RCV000221069RCV000255572RCV002482858RCV004532330

NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) SNV
Germline
Chr16:2076141 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA017942 rs_45517258

18 SubmittersRCV000013213RCV000042962RCV000482063RCV001536008RCV002426499

NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) SNV
Germline
Chr16:2076141 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA017936 rs_45517258

4 SubmittersRCV000013214RCV000042482RCV003441714

NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) SNV
Germline
Chr16:2062561 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Single Submitter
CA014401 rs_45515894

3 SubmittersRCV000013216RCV000043450

NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) SNV
Germline
Chr9:132927290 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA004496 rs_118203334

8 SubmittersRCV000034600RCV000054854RCV001010401RCV001086659RCV005049400

NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) SNV
Germline
Chr9:132906118 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
not specified
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Primitive neuroectodermal tumor
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA004868 rs_118203532

17 SubmittersRCV000034602RCV000054845RCV000189811RCV000319085RCV000568490RCV000761004RCV001085737

NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) SNV
Germline
Chr9:132905618 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA005650 rs_75820036

19 SubmittersRCV000034604RCV000054846RCV000186670RCV000234486RCV000570330

NM_000368.5(TSC1):c.2066G>A (p.Arg689His) SNV
Germline
Chr9:132903793 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA005883 rs_200827913

6 SubmittersRCV000034605RCV000163566RCV001083067RCV003996171

NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) SNV
Germline
Chr9:132903784 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA005908 rs_199755731

13 SubmittersRCV000034606RCV000163280RCV000317696RCV000515239RCV001083195RCV003934882RCV005401291

NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) SNV
Germline
Chr9:132896627 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA007165 rs_118203742

23 SubmittersRCV000034609RCV000054850RCV000130763RCV000122196RCV000297382RCV001080484

NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) SNV
Germline
Chr9:132896302 Conflicting classifications of pathogenicity Condition: not provided
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA007363 rs_201867031

9 SubmittersRCV000034611RCV000274136RCV000572666RCV001081625RCV005401292

NM_000368.5(TSC1):c.851G>A (p.Arg284His) SNV
Germline
Chr9:132912344 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA008318 rs_151309813

9 SubmittersRCV000034612RCV001080486RCV001017939RCV006547511

NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) SNV
Germline
Chr16:2060764 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Colorectal cancer
Melanoma
Criteria Provided
Conflicting Classifications
CA013675 rs_150195368

19 SubmittersRCV000034641RCV000055595RCV000122202RCV000163628RCV000230505RCV000714826RCV005888942RCV005888940RCV005888938RCV005888939RCV005888941

NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) SNV
Germline
Chr16:2062557 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Hirschsprung disease, susceptibility to, 1
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA014394 rs_45484298

28 SubmittersRCV000034643RCV000054863RCV000122204RCV000163424RCV000201296RCV000227708RCV004528161RCV005394204

NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) SNV
Germline
Chr16:2062579 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Criteria Provided
Conflicting Classifications
CA014447 rs_45486591

14 SubmittersRCV000034644RCV000054865RCV000569820RCV001083058RCV005434617

NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) SNV
Germline
Chr16:2064286 Conflicting classifications of pathogenicity Condition: not provided
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA014912 rs_200532154

6 SubmittersRCV000034645RCV000190067RCV000644164RCV002390139

NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) SNV
Germline
Chr16:2071609 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA016233 rs_45509392

18 SubmittersRCV000034648RCV000054861RCV000562486RCV000989423RCV004534722RCV004998130

NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) SNV
Germline
Chr16:2074320 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA017492 rs_45517238

23 SubmittersRCV000034649RCV000054857RCV000163390RCV000176271RCV000989426

NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) SNV
Germline
Chr16:2080197 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA019154 rs_45517294

20 SubmittersRCV000034650RCV000055184RCV000122226RCV000163263RCV000989431RCV004541070RCV005394206

NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) SNV
Germline
Chr16:2083700 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA019668 rs_45517319

29 SubmittersRCV000034653RCV000054864RCV000122229RCV000129666RCV000231518RCV005394207

NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) SNV
Germline
Chr16:2084268 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA019876 rs_201979616

10 SubmittersRCV000034656RCV000215282RCV001081977RCV006547512

NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) SNV
Germline
Chr16:2084447 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA020096 rs_45517333

16 SubmittersRCV000034657RCV000054871RCV000566784RCV000606975RCV000768352RCV001082570RCV004534723

NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) SNV
Germline
Chr16:2088545 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA022408 rs_45517419

25 SubmittersRCV000034663RCV000054855RCV000122242RCV000130722RCV000202756RCV004534724

NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) SNV
Germline
Chr16:2088554 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA022424 rs_200140994

9 SubmittersRCV000034664RCV000567483RCV001088019RCV004534725RCV006547513

NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu) SNV
Germline
Chr16:2088604 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA022504 rs_200004126

8 SubmittersRCV000034666RCV001024070RCV001081523RCV006547514

NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) SNV
Germline
Chr16:2058820 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA023120 rs_201144475

7 SubmittersRCV000034667RCV001084556RCV002257374RCV003996175

NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter) SNV
Germline
Chr9:132911481 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA004269 rs_118203481

2 SubmittersRCV000041973RCV003505083

NM_000368.5(TSC1):c.1029+1G>A SNV
Germline
Chr9:132911452 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA004316 rs_118203485

5 SubmittersRCV000041976RCV001204448RCV002477137RCV004018918

NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) SNV
Germline
Chr9:132911102 Pathogenic Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA004355 rs_118203491

5 SubmittersRCV000041982RCV001531750RCV002514164RCV003372612

NM_000368.5(TSC1):c.1047A>G (p.Pro349=) SNV
Germline
Chr9:132911096 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA004363 rs_118203492

12 SubmittersRCV000041983RCV000472218RCV000564589RCV001167269RCV001697066RCV006258940

NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) SNV
Germline
Chr9:132910584 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA004523 rs_77464996

13 SubmittersRCV000041999RCV000055012RCV000422201RCV001010542RCV000988278RCV001165673RCV004745176

NM_000368.5(TSC1):c.1333+13C>T SNV
Germline
Chr9:132907288 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA004654 rs_118203516

7 SubmittersRCV000042011RCV000420716RCV002490586RCV002054841RCV004017339

NM_000368.5(TSC1):c.1438+6G>A SNV
Germline
Chr9:132906725 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA004815 rs_118203530

14 SubmittersRCV000042029RCV000227291RCV000385329RCV001083129RCV001727548RCV002256017

NM_000368.5(TSC1):c.1439-2A>G SNV
Germline
Chr9:132906141 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA004828 rs_118203531

2 SubmittersRCV000042030RCV001208859

NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) SNV
Germline
Chr9:132906080 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA004940 rs_118203537

14 SubmittersRCV000042038RCV000254845RCV000474016RCV001199095RCV002390180RCV004795960

NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter) SNV
Germline
Chr9:132906077 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA004963 rs_118203539

2 SubmittersRCV000042041RCV006461279

NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) SNV
Germline
Chr9:132906053 Pathogenic Malignant tumor of urinary bladder
Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA004986 rs_118203542

19 SubmittersRCV000055036RCV000042043RCV000189847RCV000201132RCV000515319RCV002390181RCV004745177

NM_000368.5(TSC1):c.153A>C (p.Glu51Asp) SNV
Germline
Chr9:132927258 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA005036 rs_118203342

9 SubmittersRCV000042047RCV000461171RCV001011985RCV004721251RCV004745178RCV005890293

NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) SNV
Germline
Chr9:132905999 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA005069 rs_118203549

6 SubmittersRCV000042051RCV000054972RCV000578889RCV000660336

NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) SNV
Germline
Chr9:132927248 Pathogenic Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA005119 rs_118203343

4 SubmittersRCV000042055RCV000054965RCV001852863RCV004797774

NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter) SNV
Germline
Chr9:132905753 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA005447 rs_118203587

2 SubmittersRCV000042090RCV003505086

NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) SNV
Germline
Chr9:132927229 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA005453 rs_118203345

3 SubmittersRCV000042091RCV001380989RCV002286701

NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) SNV
Germline
Chr9:132905618 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA005658 rs_75820036

8 SubmittersRCV000042109RCV000713908RCV000698745RCV002415486

NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) SNV
Germline
Chr9:132905615 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA005663 rs_118203606

5 SubmittersRCV000042110RCV000189852RCV002415487RCV003505087

NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) SNV
Germline
Chr9:132905604 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA005685 rs_118203608

9 SubmittersRCV000042112RCV000841758RCV001056632RCV002255265RCV005042124

NM_000368.5(TSC1):c.1997+1G>A SNV
Germline
Chr9:132905580 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA005710 rs_118203610

4 SubmittersRCV000042114RCV000189849RCV002514165

NM_000368.5(TSC1):c.1997+1G>C SNV
Germline
Chr9:132905580 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA005716 rs_118203610

2 SubmittersRCV000042115RCV005862746

NM_000368.5(TSC1):c.1998-1G>C SNV
Germline
Chr9:132904455 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA005737 rs_118203614

2 SubmittersRCV000042118RCV001058298

NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter) SNV
Germline
Chr9:132904446 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA005764 rs_118203617

2 SubmittersRCV000042121RCV001203717

NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter) SNV
Germline
Chr9:132904424 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA005793 rs_118203621

3 SubmittersRCV000042125RCV003326117

NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) SNV
Germline
Chr9:132904413 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA005810 rs_118203623

6 SubmittersRCV000042127RCV000226639RCV002256018

NM_000368.5(TSC1):c.2041+2T>C SNV
Germline
Chr9:132904409 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA005827 rs_118203625

2 SubmittersRCV000042130RCV002415488

NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser) SNV
Germline
Chr9:132904411 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA005830 rs_118203624

2 SubmittersRCV000042131RCV002415489

NM_000368.5(TSC1):c.2042-2A>G SNV
Germline
Chr9:132903819 Likely pathogenic Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA005836 rs_118203628

3 SubmittersRCV000042132RCV003460554RCV003886371

NM_000368.5(TSC1):c.2042-5A>G SNV
Germline
Chr9:132903822 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA005839 rs_118203627

5 SubmittersRCV000042133RCV000568333RCV001222573RCV005416325

NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter) SNV
Germline
Chr9:132903805 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA005869 rs_118203629

2 SubmittersRCV000042134RCV004696653

NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) SNV
Germline
Chr9:132903785 Pathogenic Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA005901 rs_118203631

21 SubmittersRCV000042136RCV000054891RCV000201087RCV000413998RCV000763190RCV002415490

NM_000368.5(TSC1):c.211-1G>A SNV
Germline
Chr9:132925740 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006045 rs_118203353

3 SubmittersRCV000042153RCV000686570RCV005890295

NM_000368.5(TSC1):c.211-2A>C SNV
Germline
Chr9:132925741 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006053 rs_118203352

4 SubmittersRCV000042154RCV000201170

NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) SNV
Germline
Chr9:132903747 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Single Submitter
CA006056 rs_118203646

3 SubmittersRCV000042157RCV001199387RCV003311670

NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter) SNV
Germline
Chr9:132903728 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006063 rs_118203647

2 SubmittersRCV000042158RCV000688704

NM_000368.5(TSC1):c.215T>C (p.Leu72Pro) SNV
Germline
Chr9:132925735 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006084 rs_118203354

2 SubmittersRCV000042163RCV005089382

NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) SNV
Germline/somatic
Chr9:132902769 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA006160 rs_118203661

10 SubmittersRCV000042172RCV000414029RCV001199388RCV003332093RCV006287149

NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter) SNV
Germline
Chr9:132902747 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA006178 rs_118203662

3 SubmittersRCV000042173RCV000993362

NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter) SNV
Germline
Chr9:132902746 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006184 rs_118203663

2 SubmittersRCV000042174RCV002513613

NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) SNV
Germline
Chr9:132902713 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA006227 rs_118203668

5 SubmittersRCV000042180RCV000422886RCV001199389RCV005502745

NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) SNV
Germline
Chr9:132902711 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA006241 rs_118203670

21 SubmittersRCV000042182RCV000130869RCV000189820RCV000270998RCV000713909RCV001083830

NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter) SNV
Germline
Chr9:132902709 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006248 rs_118203671

2 SubmittersRCV000042183RCV001223370

NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) SNV
Germline
Chr9:132902703 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006259 rs_118203673

4 SubmittersRCV000042185RCV000523745RCV001384743

NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter) SNV
Germline
Chr9:132902697 Pathogenic Tuberous sclerosis syndrome
TSC1-related disorder
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006274 rs_118203675

3 SubmittersRCV000042187RCV003915004RCV004795961

NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter) SNV
Germline
Chr9:132902664 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA006315 rs_118203679

2 SubmittersRCV000042191

NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) SNV
Germline
Chr9:132902655 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006322 rs_118203680

5 SubmittersRCV000042192RCV000473593RCV002426584RCV002054843

NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) SNV
Germline
Chr9:132902649 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006332 rs_118203681

4 SubmittersRCV000042193RCV001199390

NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) SNV
Germline
Chr9:132902640 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Seizure
Cardiac rhabdomyoma
Hamartoma
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA006339 rs_118203682

17 SubmittersRCV000042194RCV000201048RCV000491852RCV000415379RCV000519452RCV005042125

NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter) SNV
Germline
Chr9:132902634 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006362 rs_118203685

2 SubmittersRCV000042197RCV000793708

NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter) SNV
Germline
Chr9:132901690 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006392 rs_118203687

3 SubmittersRCV000042200RCV000481095RCV005089383

NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr) SNV
Germline
Chr9:132901671 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA006415 rs_118203690

5 SubmittersRCV000042203RCV000642006RCV002483037RCV003298084

NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter) SNV
Germline/somatic
Chr9:132901594 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Malignant tumor of urinary bladder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA006516 rs_118203700

4 SubmittersRCV000042214RCV003332094RCV004998134

NM_000368.5(TSC1):c.2503-2A>G SNV
Germline
Chr9:132900839 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006547 rs_118203704

2 SubmittersRCV000042218RCV000988273

NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) SNV
Germline
Chr9:132900833 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA006565 rs_118203706

4 SubmittersRCV000042220RCV000796200RCV001015787

NM_000368.5(TSC1):c.2626-2A>G SNV
Germline
Chr9:132897612 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA006734 rs_118203717

4 SubmittersRCV000042233RCV000793960RCV004700311

NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) SNV
Germline
Chr9:132897547 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006867 rs_118203727

4 SubmittersRCV000042242RCV000255974RCV000490863RCV001797598

NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) SNV
Germline
Chr9:132897544 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006876 rs_118203728

4 SubmittersRCV000042243RCV000491065RCV000538905

NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) SNV
Germline
Chr9:132897520 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA006937 rs_118203732

5 SubmittersRCV000042246RCV000660339RCV000627233

NM_000368.5(TSC1):c.272C>A (p.Ser91Ter) SNV
Germline
Chr9:132925678 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA006946 rs_118203361

2 SubmittersRCV000042248

NM_000368.5(TSC1):c.2781G>A (p.Lys927=) SNV
Germline
Chr9:132897455 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA006995 rs_118203733

6 SubmittersRCV000042250RCV000473022RCV002256020

NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) SNV
Germline
Chr9:132897430 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA007024 rs_118203735

6 SubmittersRCV000042253RCV000760329RCV001253033

NM_000368.5(TSC1):c.308G>A (p.Trp103Ter) SNV
Germline
Chr9:132925642 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA007151 rs_118203364

2 SubmittersRCV000042263RCV001852866

NM_000368.5(TSC1):c.309G>A (p.Trp103Ter) SNV
Germline
Chr9:132925641 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA007158 rs_118203365

3 SubmittersRCV000042264RCV001380988RCV005502746

NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) SNV
Germline
Chr9:132896546 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA007223 rs_118203745

14 SubmittersRCV000042266RCV000189827RCV000227692RCV000563572RCV001093203RCV001167647RCV003915005

NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) SNV
Germline
Chr9:132896408 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA007317 rs_118203753

8 SubmittersRCV000042274RCV000189829RCV000642032RCV001019989RCV004546423

NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) SNV
Germline
Chr9:132925600 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA007394 rs_118203368

3 SubmittersRCV000042278RCV001068129

NM_000368.5(TSC1):c.363+1G>A SNV
Germline
Chr9:132925586 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA007428 rs_118203372

2 SubmittersRCV000042280RCV000812045

NM_000368.5(TSC1):c.363+1G>T SNV
Germline
Chr9:132925586 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA007434 rs_118203372

3 SubmittersRCV000042281RCV001378743

NM_000368.5(TSC1):c.364-1G>C SNV
Germline
Chr9:132923493 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA007466 rs_118203376

2 SubmittersRCV000042286RCV001210529

NM_000368.5(TSC1):c.397G>T (p.Val133Phe) SNV
Germline
Chr9:132923459 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA007570 rs_118203381

3 SubmittersRCV000042291RCV001214207RCV006287151

NM_000368.5(TSC1):c.433C>T (p.Gln145Ter) SNV
Germline
Chr9:132923423 Pathogenic Tuberous sclerosis syndrome
TSC1-related disorder
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA007587 rs_118203382

5 SubmittersRCV000042292RCV003894875RCV003505089RCV006555383

NM_000368.5(TSC1):c.445C>T (p.Gln149Ter) SNV
Germline
Chr9:132923411 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA007594 rs_118203384

3 SubmittersRCV000042294RCV000552517

NM_000368.5(TSC1):c.491G>A (p.Trp164Ter) SNV
Germline
Chr9:132923365 Pathogenic Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Criteria Provided
Single Submitter
CA007633 rs_118203387

2 SubmittersRCV000042297RCV000189835

NM_000368.5(TSC1):c.508+1G>C SNV
Germline
Chr9:132923347 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA007656 rs_118203390

3 SubmittersRCV000042300RCV001064764RCV006255324

NM_000368.5(TSC1):c.509-15G>A SNV
Germline
Chr9:132921988 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA007664 rs_118203391

3 SubmittersRCV000042301RCV000616375RCV001852867

NM_000368.5(TSC1):c.532G>A (p.Val178Ile) SNV
Germline
Chr9:132921950 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Isolated focal cortical dysplasia type II
TSC1-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA007701 rs_118203395

20 SubmittersRCV000042305RCV000122198RCV000164135RCV000228124RCV000724965RCV001165738RCV003964895RCV005394249

NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) SNV
Germline
Chr9:132921914 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
not specified
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA007757 rs_118203400

15 SubmittersRCV000042310RCV000130555RCV000225932RCV001703930RCV001727549RCV003915006

NM_000368.5(TSC1):c.569G>C (p.Arg190Pro) SNV
Germline
Chr9:132921913 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA007774 rs_118203402

2 SubmittersRCV000042311RCV000442086

NM_000368.5(TSC1):c.572T>A (p.Leu191His) SNV
Germline
Chr9:132921910 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA007782 rs_118203403

3 SubmittersRCV000042313RCV001852868RCV005502747

NM_000368.5(TSC1):c.572T>G (p.Leu191Arg) SNV
Germline
Chr9:132921910 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA007790 rs_118203403

2 SubmittersRCV000042314RCV002266912

NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter) SNV
Germline
Chr9:132921897 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA007821 rs_118203407

2 SubmittersRCV000042317RCV004018919

NM_000368.5(TSC1):c.598G>A (p.Val200Ile) SNV
Germline
Chr9:132921884 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA007868 rs_118203410

8 SubmittersRCV000042320RCV000441826RCV000687950RCV001169731RCV002258784RCV003407416

NM_000368.5(TSC1):c.647T>C (p.Phe216Ser) SNV
Germline
Chr9:132921835 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA007933 rs_118203416

3 SubmittersRCV000042326RCV000641989

NM_000368.5(TSC1):c.663+1G>A SNV
Germline
Chr9:132921818 Pathogenic/Likely pathogenic Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA007957 rs_118203419

4 SubmittersRCV000042329RCV000484162RCV000686448

NM_000368.5(TSC1):c.664-15A>G SNV
Germline
Chr9:132921451 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney
Criteria Provided
Multiple Submitters
No Conflicts
CA007987 rs_118203422

7 SubmittersRCV000042332RCV001257304RCV001659983RCV002362663RCV005890296

NM_000368.5(TSC1):c.664-1G>A SNV
Germline
Chr9:132921437 Pathogenic/Likely pathogenic Malignant tumor of urinary bladder
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA007993 rs_118203423

5 SubmittersRCV000042333RCV000296063RCV000819722RCV006268096

NM_000368.5(TSC1):c.664-1G>C SNV
Germline
Chr9:132921437 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA007999 rs_118203423

2 SubmittersRCV000042334RCV000201068

NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) SNV
Germline
Chr9:132921418 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA008021 rs_118203427

11 SubmittersRCV000042337RCV000201126RCV000189836RCV000515416RCV004018920

NM_000368.5(TSC1):c.694G>T (p.Glu232Ter) SNV
Germline
Chr9:132921406 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA008043 rs_118203429

3 SubmittersRCV000042338RCV001852869RCV005600631

NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) SNV
Germline
Chr9:132921367 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA008088 rs_118203434

16 SubmittersRCV000042345RCV000201189RCV000255397RCV000491872

NM_000368.5(TSC1):c.737+1G>A SNV
Germline
Chr9:132921362 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA008095 rs_118203438

6 SubmittersRCV000042346RCV000189839RCV001052124

NM_000368.5(TSC1):c.737+3A>G SNV
Germline
Chr9:132921360 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA008108 rs_118203439

9 SubmittersRCV000042347RCV000189840RCV000561720RCV000660331

NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) SNV
Germline
Chr9:132921363 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA008124 rs_118203436

5 SubmittersRCV000042348RCV000724695RCV000821093

NM_000368.5(TSC1):c.738-2A>G SNV
Germline
Chr9:132912459 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA008143 rs_118203440

4 SubmittersRCV000042351RCV001221738

NM_000368.5(TSC1):c.749T>G (p.Leu250Ter) SNV
Germline
Chr9:132912446 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA008193 rs_118203447

2 SubmittersRCV000042357RCV006461281

NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) SNV
Germline
Chr9:132912423 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA008208 rs_118203450

4 SubmittersRCV000042361RCV001008650RCV001797599

NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter) SNV
Germline
Chr9:132912370 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA008254 rs_118203454

2 SubmittersRCV000042365RCV000542283

NM_000368.5(TSC1):c.838C>T (p.Gln280Ter) SNV
Germline
Chr9:132912357 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA008302 rs_118203458

2 SubmittersRCV000042369RCV005859483

NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter) SNV
Germline
Chr9:132912304 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA008344 rs_118203461

2 SubmittersRCV000042373RCV000054984RCV001852871

NM_000368.5(TSC1):c.901C>T (p.Gln301Ter) SNV
Germline
Chr9:132912294 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA008364 rs_118203463

4 SubmittersRCV000042374RCV000703930RCV005051745

NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter) SNV
Germline
Chr9:132912283 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA008375 rs_118203466

2 SubmittersRCV000042377RCV003153241

NM_000368.5(TSC1):c.913+1G>A SNV
Germline
Chr9:132912281 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA008382 rs_118203470

5 SubmittersRCV000042379RCV001090692RCV001852872

NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) SNV
Germline
Chr9:132912282 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA008396 rs_118203468

3 SubmittersRCV000042380RCV000432455RCV002371859

NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) SNV
Germline
Chr9:132911509 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA008473 rs_118203474

5 SubmittersRCV000042385RCV000201208RCV000255408

NM_000548.5(TSC2):c.1029C>T (p.Thr343=) SNV
Germline
Chr16:2060723 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA013612 rs_45468201

3 SubmittersRCV000042392RCV003764714

NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) SNV
Germline
Chr16:2060779 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA013704 rs_137854345

3 SubmittersRCV000042395RCV000413741RCV001065226

NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) SNV
Germline
Chr16:2060805 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA013813 rs_45469099

4 SubmittersRCV000042397RCV000644081RCV000760655

NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) SNV
Germline
Chr16:2062982 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA014613 rs_45517169

12 SubmittersRCV000042408RCV000201131RCV000441085RCV004798759RCV004943735RCV004795963

NM_000548.5(TSC2):c.138+2T>C SNV
Germline
Chr16:2048755 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA014657 rs_137854226

4 SubmittersRCV000042410RCV000518195RCV001852874

NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter) SNV
Germline
Chr16:2063050 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014804 rs_45514794

2 SubmittersRCV000042414RCV005620895

NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) SNV
Germline
Chr16:2064305 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA014935 rs_45517177

3 SubmittersRCV000042417RCV001056606RCV003162356

NM_000548.5(TSC2):c.1778A>G (p.His593Arg) SNV
Germline
Chr16:2070517 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA015696 rs_45517198

5 SubmittersRCV000042429RCV001298722RCV001565367

NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter) SNV
Germline
Chr16:2070522 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015705 rs_45517199

4 SubmittersRCV000042430RCV000993366RCV003511983

NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) SNV
Germline
Chr16:2070531 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015786 rs_45517201

3 SubmittersRCV000042431RCV001852875

NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly) SNV
Germline
Chr16:2070570 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015905 rs_45469298

3 SubmittersRCV000042433RCV001388105

NM_000548.5(TSC2):c.1860G>A (p.Leu620=) SNV
Germline
Chr16:2071530 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA016057 rs_45492397

13 SubmittersRCV000042436RCV000125656RCV000570009RCV000726515RCV001084136RCV004528235

NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter) SNV
Germline
Chr16:2071932 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA016676 rs_45517210

3 SubmittersRCV000042447RCV001852876RCV003231112

NM_000548.5(TSC2):c.2221-1G>C SNV
Germline
Chr16:2072848 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016978 rs_45517218

3 SubmittersRCV000042454RCV004783731RCV005255559

NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) SNV
Germline
Chr16:2072853 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Single Submitter
CA017007 rs_45517220

3 SubmittersRCV000042456RCV004700312RCV004541218

NM_000548.5(TSC2):c.226-2A>G SNV
Germline
Chr16:2053340 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017124 rs_45517096

2 SubmittersRCV000042457RCV000201113

NM_000548.5(TSC2):c.2356-1G>A SNV
Germline
Chr16:2074199 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA017248 rs_45481704

5 SubmittersRCV000042462RCV000520834RCV001250498RCV002444496

NM_000548.5(TSC2):c.2356-2A>C SNV
Germline
Chr16:2074198 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017255 rs_45517229

2 SubmittersRCV000042463RCV000201046

NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter) SNV
Germline
Chr16:2074251 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017379 rs_45517234

2 SubmittersRCV000042465RCV001202863

NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys) SNV
Germline
Chr16:2074284 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017424 rs_45485395

2 SubmittersRCV000042467RCV006461282

NM_000548.5(TSC2):c.251C>T (p.Ala84Val) SNV
Germline
Chr16:2053367 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Sarcoma
Criteria Provided
Conflicting Classifications
CA017545 rs_35660529

16 SubmittersRCV000042470RCV000055051RCV000589638RCV000575144RCV001084150RCV001729369RCV005890297

NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter) SNV
Germline
Chr16:2076089 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017829 rs_45475594

3 SubmittersRCV000042480RCV003114222RCV006461283

NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys) SNV
Germline
Chr16:2076546 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA018204 rs_45517269

7 SubmittersRCV000042492RCV000556585RCV002433524RCV004734592RCV005016328

NM_000548.5(TSC2):c.2887G>A (p.Val963Met) SNV
Germline
Chr16:2077647 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA018311 rs_45517275

11 SubmittersRCV000042494RCV000460965RCV001016860RCV001563228RCV002271386

NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter) SNV
Germline
Chr16:2079039 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018343 rs_45438592

4 SubmittersRCV000042495RCV002433525RCV006461284

NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) SNV
Germline
Chr16:2079159 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA018490 rs_45465195

11 SubmittersRCV000042499RCV000404065RCV000462671RCV002483039RCV004537161

NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) SNV
Germline
Chr16:2079160 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA018497 rs_45491698

7 SubmittersRCV000042500RCV000201071RCV005255560

NM_000548.5(TSC2):c.3131+1G>A SNV
Germline
Chr16:2079197 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018580 rs_45506401

5 SubmittersRCV000042503RCV000520072RCV001063941RCV004795964

NM_000548.5(TSC2):c.3132-1G>C SNV
Germline
Chr16:2079275 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Lung cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA018622 rs_45443096

5 SubmittersRCV000042504RCV001536134RCV005890301

NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg) SNV
Germline
Chr16:2079356 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018689 rs_45498892

2 SubmittersRCV000042506RCV002513616

NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu) SNV
Germline
Chr16:2079396 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA018744 rs_45517286

4 SubmittersRCV000042507RCV000229678RCV003343620

NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) SNV
Germline
Chr16:2079615 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Single Submitter
CA018915 rs_137854253

3 SubmittersRCV000042511RCV000801625RCV004537162

NM_000548.5(TSC2):c.337-1G>T SNV
Germline
Chr16:2054295 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019020 rs_45517105

3 SubmittersRCV000042512RCV002453337RCV005089386

NM_000548.5(TSC2):c.3397+1G>A SNV
Germline
Chr16:2079670 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019073 rs_137854208

5 SubmittersRCV000042515RCV001225613RCV002490589RCV005620338

NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) SNV
Germline
Chr16:2080179 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019122 rs_45451497

11 SubmittersRCV000042516RCV000190075RCV000201090RCV000491678RCV002483040

NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu) SNV
Germline
Chr16:2080197 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA019160 rs_45517294

4 SubmittersRCV000042518RCV001020293RCV001057920

NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) SNV
Germline
Chr16:2080299 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019253 rs_45517297

4 SubmittersRCV000042522RCV000481829RCV000694582

NM_000548.5(TSC2):c.3610+1G>A SNV
Germline
Chr16:2080378 Pathogenic Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019341 rs_45517299

7 SubmittersRCV000042523RCV000055354RCV001045249RCV001508402

NM_000548.5(TSC2):c.3610+6G>A SNV
Germline
Chr16:2080383 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Intellectual disability
Criteria Provided
Conflicting Classifications
CA019357 rs_45517301

21 SubmittersRCV000042525RCV000125673RCV000726033RCV001081073RCV002255266RCV005625246

NM_000548.5(TSC2):c.3611-9C>T SNV
Germline
Chr16:2081586 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA019379 rs_45517304

4 SubmittersRCV000042526RCV000529964RCV004998135

NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter) SNV
Germline
Chr16:2081646 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019446 rs_45517305

2 SubmittersRCV000042528RCV000543360

NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) SNV
Germline
Chr16:2081669 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019470 rs_45517306

6 SubmittersRCV000042529RCV000760363RCV001036695

NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) SNV
Germline
Chr16:2081707 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA019510 rs_45486193

15 SubmittersRCV000042530RCV000163886RCV000713929RCV001082224

NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) SNV
Germline
Chr16:2084245 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA019836 rs_45462593

10 SubmittersRCV000042541RCV000457664RCV001703933RCV002354223RCV004537163RCV006258941

NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter) SNV
Germline
Chr16:2084512 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020204 rs_45517334

2 SubmittersRCV000042550RCV002513618

NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) SNV
Germline
Chr16:2084571 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA020293 rs_45517338

9 SubmittersRCV000042552RCV000562910RCV000713934RCV001079491

NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter) SNV
Germline
Chr16:2084577 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA020316 rs_45517339

2 SubmittersRCV000042553RCV002273945

NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) SNV
Germline
Chr16:2084964 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020569 rs_45517348

9 SubmittersRCV000042560RCV000553662RCV000627231RCV002477138RCV003380406

NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) SNV
Germline
Chr16:2085233 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020707 rs_45517352

5 SubmittersRCV000042565RCV000190034RCV001042432

NM_000548.5(TSC2):c.4663-1G>A SNV
Germline
Chr16:2086192 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020864 rs_45517358

2 SubmittersRCV000042572RCV001388268

NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) SNV
Germline
Chr16:2086257 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA020954 rs_45437192

9 SubmittersRCV000042577RCV000545050RCV001022958RCV001697037RCV004734593

NM_000548.5(TSC2):c.478C>G (p.Leu160Val) SNV
Germline
Chr16:2054437 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA021005 rs_45517109

2 SubmittersRCV000042579RCV000518124

NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro) SNV
Germline
Chr16:2086320 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021009 rs_45517370

2 SubmittersRCV000042580RCV005089387

NM_000548.5(TSC2):c.481+1G>T SNV
Germline
Chr16:2054441 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA021010 rs_45488500

2 SubmittersRCV000042581

NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) SNV
Germline
Chr16:2086359 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021071 rs_45517371

3 SubmittersRCV000042583RCV000268236RCV002513619

NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) SNV
Germline
Chr16:2086376 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Thyroid cancer, nonmedullary, 1
Criteria Provided
Multiple Submitters
No Conflicts
CA021087 rs_45455296

8 SubmittersRCV000042586RCV000470698RCV001091866RCV005890309

NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr) SNV
Germline
Chr16:2086740 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA021147 rs_45446901

4 SubmittersRCV000042587RCV001383217RCV004724772RCV005502749

NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) SNV
Germline
Chr16:2086793 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA021233 rs_35282988

18 SubmittersRCV000042591RCV000125693RCV000163430RCV000227843RCV001579733RCV005394252

NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) SNV
Germline
Chr16:2086800 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021270 rs_45485092

5 SubmittersRCV000042593RCV001042053

NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys) SNV
Germline/somatic
Chr16:2086831 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Everolimus response
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA021378 rs_45501091

4 SubmittersRCV000042594RCV000590964RCV002336158RCV006461286

NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) SNV
Germline
Chr16:2086834 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA021383 rs_45517382

8 SubmittersRCV000042595RCV000359328RCV000543686RCV002336159

NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe) SNV
Germline
Chr16:2086840 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA021398 rs_45517383

4 SubmittersRCV000042596RCV001242240RCV006277681

NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) SNV
Germline
Chr16:2087866 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021488 rs_45448101

5 SubmittersRCV000042600RCV000302325RCV001048099

NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys) SNV
Germline
Chr16:2087916 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA021576 rs_45476793

2 SubmittersRCV000042602RCV003298086

NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro) SNV
Germline
Chr16:2087923 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA021580 rs_45517387

2 SubmittersRCV000042603RCV004998136

NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr) SNV
Germline
Chr16:2087941 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021630 rs_137854882

2 SubmittersRCV000042604RCV000553605

NM_000548.5(TSC2):c.5069-18A>G SNV
Germline
Chr16:2088030 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021636 rs_45484794

3 SubmittersRCV000042605RCV001068320

NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) SNV
Germline
Chr16:2088089 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA021746 rs_45474691

6 SubmittersRCV000042608RCV000441153RCV000565772RCV001079156

NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg) SNV
Germline
Chr16:2088105 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA021789 rs_45517393

2 SubmittersRCV000042610RCV000517378

NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) SNV
Germline
Chr16:2088119 Pathogenic Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA021852 rs_45517396

5 SubmittersRCV000042611RCV000506833RCV000793317RCV006258942

NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) SNV
Germline
Chr16:2088129 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021894 rs_45517398

4 SubmittersRCV000042612RCV000190040RCV001797601

NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter) SNV
Germline
Chr16:2088285 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA022169 rs_137854219

3 SubmittersRCV000042622RCV000388680RCV001852882

NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) SNV
Germline
Chr16:2088286 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA022177 rs_45517411

5 SubmittersRCV000042623RCV000493371RCV000802438

NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) SNV
Germline
Chr16:2088320 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA022307 rs_45517414

8 SubmittersRCV000042627RCV000271618RCV001797602RCV002313736RCV005394253

NM_000548.5(TSC2):c.593T>C (p.Met198Thr) SNV
Germline
Chr16:2055513 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA022610 rs_45517114

7 SubmittersRCV000042635RCV000455251RCV001370970RCV004018921

NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) SNV
Germline
Chr16:2055518 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA022625 rs_45517115

2 SubmittersRCV000042636

NM_000548.5(TSC2):c.599+1G>A SNV
Germline
Chr16:2055520 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA022627 rs_45460895

4 SubmittersRCV000042637RCV002513622RCV005502750

NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) SNV
Germline
Chr16:2056242 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA022720 rs_45517118

10 SubmittersRCV000042639RCV000644252RCV002490591RCV002354224RCV003466894RCV004998137

NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) SNV
Germline
Chr16:2056242 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022725 rs_45517118

2 SubmittersRCV000042640RCV000201082

NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) SNV
Germline
Chr16:2056731 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA022910 rs_137854123

9 SubmittersRCV000042644RCV000554931RCV000612409RCV002288539RCV002381326RCV003460556

NM_000548.5(TSC2):c.774+2T>A SNV
Germline
Chr16:2056771 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA022955 rs_45517129

2 SubmittersRCV000042645RCV002307378

NM_000548.5(TSC2):c.849-1G>A SNV
Germline
Chr16:2058746 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA023038 rs_45506396

5 SubmittersRCV000042648RCV000439973RCV001039254RCV002444497

NM_000548.5(TSC2):c.976-15G>A SNV
Germline
Chr16:2060655 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
TSC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA023219 rs_45517150

10 SubmittersRCV000042656RCV000189971RCV000465503RCV002483043RCV004537165

NM_000548.5(TSC2):c.976-1G>A SNV
Germline
Chr16:2060669 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA023222 rs_45451199

2 SubmittersRCV000042657RCV000644206

NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) SNV
Germline
Chr16:2058778 Pathogenic Lymphangiomyomatosis
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA023075 rs_45517139

3 SubmittersRCV000042662RCV002513623RCV003333730

NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) SNV
Germline
Chr16:2058809 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA023109 rs_45517140

4 SubmittersRCV000042665RCV003150939RCV004537166RCV005089389

NM_000548.5(TSC2):c.648+1G>A SNV
Germline
Chr16:2056245 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA022731 rs_45488893

5 SubmittersRCV000042670RCV000201164

NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) SNV
Germline
Chr16:2056653 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA022760 rs_45517119

6 SubmittersRCV000042671RCV000520962RCV000699187

NM_000548.5(TSC2):c.5160+1G>A SNV
Germline
Chr16:2088140 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA021915 rs_45517399

7 SubmittersRCV000042685RCV000201137RCV000485999RCV002496673

NM_000548.5(TSC2):c.5160+1G>T SNV
Germline
Chr16:2088140 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA021925 rs_45517399

3 SubmittersRCV000042687RCV000441636RCV005502752

NM_000548.5(TSC2):c.5160+5G>A SNV
Germline
Chr16:2088144 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021966 rs_45515392

2 SubmittersRCV000042689RCV001852885

NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter) SNV
Germline
Chr16:2087907 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021559 rs_45467993

2 SubmittersRCV000042697RCV001852886

NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) SNV
Germline
Chr16:2087929 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021591 rs_45517388

5 SubmittersRCV000042700RCV000713942RCV003326118

NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu) SNV
Germline
Chr16:2087938 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA021601 rs_137854315

4 SubmittersRCV000042701RCV000822377RCV002336160RCV004998139

NM_000548.5(TSC2):c.5068+9G>A SNV
Germline
Chr16:2087950 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Uterine corpus endometrial carcinoma
Cholangiocarcinoma
Criteria Provided
Conflicting Classifications
CA021623 rs_45445593

11 SubmittersRCV000042702RCV000177971RCV000724754RCV001079713RCV005890311RCV005890310

NM_000548.5(TSC2):c.5068G>C (p.Asp1690His) SNV
Germline
Chr16:2087941 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021629 rs_137854882

2 SubmittersRCV000042703RCV003626600

NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter) SNV
Germline
Chr16:2088274 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Single Submitter
CA022148 rs_45517410

2 SubmittersRCV001781366RCV000042713

NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) SNV
Germline
Chr16:2086825 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021368 rs_45471896

5 SubmittersRCV000042718RCV001557106RCV002514167RCV003224798

NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) SNV
Germline
Chr16:2086313 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA021000 rs_45517369

4 SubmittersRCV000042724RCV001508405RCV001852888RCV003162357

NM_000548.5(TSC2):c.4989+1G>A SNV
Germline
Chr16:2086872 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021454 rs_45517386

5 SubmittersRCV000042728RCV000201203

NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) SNV
Germline/somatic
Chr16:2088293 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Subependymal giant-cell astrocytoma
Criteria Provided
Multiple Submitters
No Conflicts
CA022213 rs_45517412

16 SubmittersRCV000042731RCV000190076RCV000201065RCV000491169RCV000763368RCV004537168RCV006253750

NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) SNV
Germline
Chr16:2085239 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA020719 rs_45514391

8 SubmittersRCV000042733RCV000644318RCV001022730RCV001697067RCV004537169

NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter) SNV
Germline
Chr16:2085266 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020763 rs_45495796

2 SubmittersRCV000042735RCV005089390

NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter) SNV
Germline
Chr16:2085280 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020767 rs_45455897

3 SubmittersRCV000042736RCV001831715

NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) SNV
Germline/somatic
Chr16:2085306 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Subependymal giant-cell astrocytoma
Criteria Provided
Multiple Submitters
No Conflicts
CA020809 rs_45517355

5 SubmittersRCV000042739RCV000412893RCV001036250RCV006253751

NM_000548.5(TSC2):c.4662G>A (p.Gln1554=) SNV
Germline
Chr16:2085322 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020851 rs_137854880

3 SubmittersRCV000042745RCV001224625

NM_000548.5(TSC2):c.4662G>T (p.Gln1554His) SNV
Germline
Chr16:2085322 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020857 rs_137854880

3 SubmittersRCV000042746RCV001232925

NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr) SNV
Germline
Chr16:2084711 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020509 rs_45517344

5 SubmittersRCV000042750RCV001852889RCV003441731

NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg) SNV
Germline
Chr16:2084712 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020517 rs_45497997

3 SubmittersRCV000042751RCV002326760RCV003511986

NM_000548.5(TSC2):c.4494-1G>A SNV
Germline
Chr16:2084950 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020543 rs_45517346

2 SubmittersRCV000042752RCV000660348

NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) SNV
Germline
Chr16:2084360 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA019994 rs_137854045

4 SubmittersRCV000042757RCV001062658RCV005644497

NM_000548.5(TSC2):c.4509G>T (p.Gln1503His) SNV
Germline
Chr16:2084966 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020576 rs_45517349

2 SubmittersRCV000042758RCV002250506

NM_000548.5(TSC2):c.3884-17C>G SNV
Germline
Chr16:2083678 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA019629 rs_45517317

13 SubmittersRCV000042773RCV000125680RCV000210793RCV001579953RCV001797604RCV005890312

NM_000548.5(TSC2):c.3884-2A>T SNV
Germline
Chr16:2083693 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019641 rs_137854053

2 SubmittersRCV000042775RCV003626601

NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter) SNV
Germline
Chr16:2084520 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020214 rs_45517335

2 SubmittersRCV000042776RCV001070626

NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys) SNV
Germline
Chr16:2086242 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020940 rs_45478894

2 SubmittersRCV000042778RCV001852890

NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) SNV
Germline
Chr16:2083767 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019742 rs_45517322

6 SubmittersRCV000042782RCV000541237RCV000764029RCV001021518

NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) SNV
Germline
Chr16:2084540 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020269 rs_45517337

6 SubmittersRCV000042784RCV000201035RCV000521569

NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) SNV
Germline
Chr16:2080377 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019365 rs_1555511663

3 SubmittersRCV000042787RCV000660346RCV004760356

NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) SNV
Germline
Chr16:2081606 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA019409 rs_45482795

4 SubmittersRCV000042789RCV000254034RCV001069687

NM_000548.5(TSC2):c.4044C>T (p.His1348=) SNV
Germline
Chr16:2084266 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA019871 rs_137854084

12 SubmittersRCV000042797RCV000607727RCV000731867RCV001086992RCV002256025RCV004537170

NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn) SNV
Germline
Chr16:2079147 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018473 rs_45517280

2 SubmittersRCV000042807RCV005089391

NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter) SNV
Germline
Chr16:2081734 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019518 rs_45517308

2 SubmittersRCV000042809RCV000810322

NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) SNV
Germline
Chr16:2081734 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019521 rs_45517308

5 SubmittersRCV000042810RCV002266913

NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) SNV
Germline
Chr16:2080196 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA019149 rs_45487691

13 SubmittersRCV000042813RCV000163685RCV000228389RCV001171694RCV005434620

NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) SNV
Germline
Chr16:2084318 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019945 rs_45517327

4 SubmittersRCV000042815RCV000201169RCV000760364

NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) SNV
Germline
Chr16:2084327 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
not specified
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA019949 rs_45517328

18 SubmittersRCV000042816RCV000565844RCV000726579RCV001082851RCV003488361RCV004541222

NM_000548.5(TSC2):c.2743-1G>A SNV
Germline
Chr16:2076490 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA018023 rs_45517263

4 SubmittersRCV000042820RCV000701173RCV002433526RCV005222728

NM_000548.5(TSC2):c.2743-1G>C SNV
Germline
Chr16:2076490 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018028 rs_45517263

3 SubmittersRCV000042821RCV001569044RCV002288540

NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) SNV
Germline
Chr16:2079284 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA018645 rs_45517284

15 SubmittersRCV000042825RCV000122221RCV000163970RCV000727358RCV001086743RCV004541223

NM_000548.5(TSC2):c.2546-1G>A SNV
Germline
Chr16:2075798 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA017640 rs_45468292

2 SubmittersRCV000042829RCV000523003

NM_000548.5(TSC2):c.2546-1G>C SNV
Germline
Chr16:2075798 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017646 rs_45468292

2 SubmittersRCV000042830RCV000812597

NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter) SNV
Germline
Chr16:2080276 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA019240 rs_45517296

2 SubmittersRCV000042839

NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) SNV
Germline
Chr16:2076075 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA017805 rs_45476100

6 SubmittersRCV000042841RCV001252981RCV002255124

NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter) SNV
Germline
Chr16:2074224 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA017333 rs_45517233

2 SubmittersRCV000042844RCV002288541

NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) SNV
Germline
Chr16:2076094 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA017841 rs_137854155

5 SubmittersRCV000042847RCV000201152RCV002433527

NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) SNV
Germline
Chr16:2074267 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017395 rs_45489791

2 SubmittersRCV000042848RCV001250499

NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter) SNV
Germline
Chr16:2079409 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018787 rs_45517288

3 SubmittersRCV000042850RCV003231113RCV003511987

NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser) SNV
Germline
Chr16:2076118 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA017895 rs_45517255

2 SubmittersRCV000042856RCV000336828

NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) SNV
Germline
Chr16:2072296 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
TSC2-related disorder
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA016844 rs_45517215

13 SubmittersRCV000042858RCV000129683RCV000227547RCV001703935RCV004734595RCV004998140RCV005394257

NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro) SNV
Germline
Chr16:2072353 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA016935 rs_45464093

2 SubmittersRCV000042862RCV004998141

NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly) SNV
Germline
Chr16:2071552 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA016143 rs_45437797

8 SubmittersRCV000042864RCV000707631RCV001013512RCV003151740RCV005237465RCV005016330

NM_000548.5(TSC2):c.1717-1G>A SNV
Germline
Chr16:2070455 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015534 rs_45517192

3 SubmittersRCV000042880RCV002266914

NM_000548.5(TSC2):c.1790A>G (p.His597Arg) SNV
Germline
Chr16:2070529 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015754 rs_137854322

3 SubmittersRCV000042891RCV002513625

NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter) SNV
Germline
Chr16:2071920 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016621 rs_45517209

3 SubmittersRCV000042894RCV002253206RCV001852892

NM_000548.5(TSC2):c.1444-2A>G SNV
Germline
Chr16:2064270 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA014879 rs_45517174

4 SubmittersRCV000042895RCV000201016RCV000498319

NM_000548.5(TSC2):c.1479C>T (p.Leu493=) SNV
Germline
Chr16:2064307 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA014952 rs_137854145

8 SubmittersRCV000042897RCV000456547RCV001011795RCV001575129

NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter) SNV
Germline
Chr16:2064320 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014978 rs_45517178

2 SubmittersRCV000042899RCV002266915

NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) SNV
Germline/somatic
Chr16:2070570 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Subependymal giant-cell astrocytoma
Criteria Provided
Multiple Submitters
No Conflicts
CA015914 rs_45469298

12 SubmittersRCV000042905RCV000189989RCV000491813RCV000539587RCV000768117RCV006253752

NM_000548.5(TSC2):c.1599+1G>A SNV
Germline
Chr16:2064428 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA015195 rs_45517182

4 SubmittersRCV000042908RCV000201163RCV000490888RCV002472947

NM_000548.5(TSC2):c.1599+2T>C SNV
Germline
Chr16:2064429 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA015210 rs_45517183

2 SubmittersRCV000042909RCV000491391

NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter) SNV
Germline
Chr16:2062587 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014477 rs_45491095

2 SubmittersRCV000042913RCV001388103

NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) SNV
Germline
Chr16:2060754 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA013658 rs_45469896

4 SubmittersRCV000042918RCV000713913RCV001382877

NM_000548.5(TSC2):c.1839+6G>A SNV
Germline
Chr16:2070584 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Intellectual disability
Criteria Provided
Conflicting Classifications
CA015966 rs_45517204

20 SubmittersRCV000042920RCV000233074RCV000349195RCV000513698RCV002255268RCV005625247

NM_000548.5(TSC2):c.138+1G>A SNV
Germline
Chr16:2048754 Likely pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA014645 rs_45517091

2 SubmittersRCV000042923

NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys) SNV
Germline
Chr16:2061893 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA013922 rs_45465395

3 SubmittersRCV000042935RCV002513627

NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) SNV
Germline
Chr16:2061961 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA014047 rs_45457701

4 SubmittersRCV000042938RCV001382878RCV004528236RCV005251050

NM_000548.5(TSC2):c.2295C>T (p.Ala765=) SNV
Germline
Chr16:2072923 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA017160 rs_45509500

10 SubmittersRCV000042939RCV000731964RCV001081090RCV002256027RCV002281730

NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) SNV
Germline
Chr16:2072956 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA017191 rs_45517225

5 SubmittersRCV000042941RCV000407429RCV001194681RCV005016331

NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) SNV
Germline
Chr16:2061980 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA014118 rs_137854298

6 SubmittersRCV000042942RCV000201010RCV002468995

NM_000548.5(TSC2):c.1257+2T>C SNV
Germline
Chr16:2062010 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014221 rs_45509697

3 SubmittersRCV000042945RCV000722173

NM_000548.5(TSC2):c.1837C>T (p.Gln613Ter) SNV
Germline
Chr16:2070576 Pathogenic Tuberous sclerosis syndrome
Lymphangiomyomatosis
Condition: not provided
Criteria Provided
Single Submitter
CA015927 rs_45480292

2 SubmittersRCV000042947RCV000055587RCV005627340

NM_000548.5(TSC2):c.1599G>A (p.Lys533=) SNV
Germline
Chr16:2064427 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA015223 rs_1555502589

3 SubmittersRCV000042949RCV001056287RCV006257261

NM_000548.5(TSC2):c.1361+1G>A SNV
Germline
Chr16:2062601 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA014515 rs_45517164

3 SubmittersRCV000042956RCV001725958RCV005089393

NM_000548.5(TSC2):c.2355+1G>A SNV
Germline
Chr16:2072984 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017233 rs_45517227

2 SubmittersRCV000042975RCV000800581

NM_000548.5(TSC2):c.2355+2T>C SNV
Germline
Chr16:2072985 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA017242 rs_45517228

3 SubmittersRCV000042977RCV000800582RCV006287155

NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser) SNV
Germline
Chr16:2077613 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA018279 rs_45517273

3 SubmittersRCV000042983RCV001208145RCV002433528

NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp) SNV
Germline
Chr16:2071511 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA016019 rs_45454398

3 SubmittersRCV000042985RCV002514169RCV005625248

NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) SNV
Germline
Chr16:2074254 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017384 rs_137853995

5 SubmittersRCV000042990RCV000189999RCV000201105

NM_000548.5(TSC2):c.2098-1G>A SNV
Germline
Chr16:2072240 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA016712 rs_45517212

5 SubmittersRCV000042995RCV000229589RCV000482722RCV005286019

NM_000548.5(TSC2):c.2098-2A>G SNV
Germline
Chr16:2072239 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016720 rs_45501596

4 SubmittersRCV000042996RCV002415491RCV003155053

NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) SNV
Germline
Chr16:2079164 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018520 rs_45464800

4 SubmittersRCV000042999RCV000760362RCV000806140

NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter) SNV
Germline
Chr16:2079164 Pathogenic Tuberous sclerosis syndrome
TSC2-related disorder
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018525 rs_45464800

4 SubmittersRCV000043000RCV004734598RCV002285261RCV002266916

NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) SNV
Germline
Chr16:2072251 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA016778 rs_45517213

7 SubmittersRCV000043001RCV000201180RCV004798760RCV004808563RCV005251051

NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter) SNV
Germline
Chr16:2072252 Pathogenic Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA016786 rs_45462192

2 SubmittersRCV000043002RCV000055536RCV005089394

NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) SNV
Germline
Chr16:2053384 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017893 rs_45517099

8 SubmittersRCV000043003RCV000381969RCV000491603RCV000707342

NM_000548.5(TSC2):c.1443+4C>T SNV
Germline
Chr16:2063057 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Dystonia, early-onset, and/or spastic paraplegia
Criteria Provided
Conflicting Classifications
CA014832 rs_45517172

14 SubmittersRCV000043007RCV000189887RCV000565280RCV000989418RCV002262603RCV005625249

NM_000548.5(TSC2):c.1443G>A (p.Glu481=) SNV
Germline
Chr16:2063053 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014840 rs_137854876

2 SubmittersRCV000043008RCV003511991

NM_000548.5(TSC2):c.2742+1G>A SNV
Germline
Chr16:2076171 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017990 rs_45517262

2 SubmittersRCV000043011RCV002513628

NM_000548.5(TSC2):c.3132-1G>A SNV
Germline
Chr16:2079275 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018616 rs_45443096

2 SubmittersRCV000043014RCV001379864

NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) SNV
Germline
Chr16:2074321 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA017496 rs_45517239

4 SubmittersRCV000043016RCV000473440RCV004566811

NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) SNV
Germline
Chr16:2080243 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA019197 rs_45473098

9 SubmittersRCV000043020RCV000177445RCV000565521RCV000724630RCV001086436RCV005394260

NM_000548.5(TSC2):c.1117C>T (p.Gln373Ter) SNV
Germline
Chr16:2060811 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA013824 rs_45458694

2 SubmittersRCV000043024RCV004783734

NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) SNV
Germline
Chr16:2080365 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
TSC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA019313 rs_45438205

23 SubmittersRCV000043035RCV000190021RCV000190880RCV002453340RCV002490595RCV004537174

NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) SNV
Germline
Chr16:2071535 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Gastric cancer
Criteria Provided
Conflicting Classifications
CA016094 rs_45517206

11 SubmittersRCV000043039RCV000233524RCV001013448RCV001703938RCV004734599RCV005890314

NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) SNV
Germline
Chr16:2071535 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA016103 rs_45517206

5 SubmittersRCV000043040RCV000713916RCV001379863RCV005761954

NM_000548.5(TSC2):c.4005+1G>T SNV
Germline
Chr16:2083817 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019809 rs_45517324

5 SubmittersRCV000043043RCV001171696RCV001377312

NM_000548.5(TSC2):c.2546-2A>G SNV
Germline
Chr16:2075797 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017648 rs_45517246

4 SubmittersRCV000043045RCV000176373RCV001380264

NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter) SNV
Germline
Chr16:2076533 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA018189 rs_45517268

2 SubmittersRCV000043047RCV005434621

NM_000548.5(TSC2):c.4570-66G>A SNV
Germline
Chr16:2085164 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA020695 rs_45496499

4 SubmittersRCV000043048RCV000983809RCV002054853RCV002257385

NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) SNV
Germline
Chr16:2086202 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020888 rs_45517360

10 SubmittersRCV000043059RCV001054560RCV001200217RCV003162358

NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter) SNV
Germline
Chr16:2079624 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA018941 rs_45496291

4 SubmittersRCV000043062RCV001280880RCV005434622

NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) SNV
Germline
Chr16:2084351 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019981 rs_45517329

6 SubmittersRCV000043066RCV001390822RCV003460557RCV004812298

NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) SNV
Germline
Chr16:2084396 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA020033 rs_45517330

10 SubmittersRCV000043072RCV000760365RCV000660347RCV004584339

NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu) SNV
Germline
Chr16:2084441 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA020086 rs_45517332

3 SubmittersRCV000043078RCV001852896RCV002326761

NM_000548.5(TSC2):c.2221-2A>G SNV
Germline
Chr16:2072847 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA016997 rs_45502196

2 SubmittersRCV000043081RCV000694650

NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) SNV
Germline
Chr16:2055416 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021413 rs_45517111

4 SubmittersRCV000043085RCV000351808RCV002513629

NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter) SNV
Germline
Chr16:2086309 Pathogenic Tuberous sclerosis syndrome
TSC2-related disorder
No Assertion Criteria Provided
CA020994 rs_45517368

2 SubmittersRCV000043086RCV004537176

NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) SNV
Germline
Chr16:2084477 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020121 rs_45437193

5 SubmittersRCV000043087RCV000760367RCV001852897RCV002326762

NM_000548.5(TSC2):c.481+5G>T SNV
Germline
Chr16:2054445 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA021024 rs_137854135

2 SubmittersRCV000043091RCV001091437

NM_000548.5(TSC2):c.482-1G>C SNV
Germline
Chr16:2055401 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021029 rs_137854306

2 SubmittersRCV000043092RCV002514170

NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) SNV
Germline
Chr16:2079667 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA019071 rs_137854074

2 SubmittersRCV000043094RCV000414024

NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) SNV
Germline
Chr16:2084577 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA020322 rs_45517339

6 SubmittersRCV000043095RCV000190032RCV001022345RCV001088217

NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly) SNV
Germline
Chr16:2084582 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA020332 rs_137854366

4 SubmittersRCV000043096RCV001050539RCV001022358

NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) SNV
Germline
Chr16:2088293 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022207 rs_45517412

2 SubmittersRCV000043100RCV001249601

NM_000548.5(TSC2):c.3816G>A (p.Val1272=) SNV
Germline
Chr16:2082437 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA019584 rs_45517314

8 SubmittersRCV000043101RCV000540094RCV001021220RCV001249117

NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter) SNV
Germline
Chr16:2084498 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA020176 rs_45449094

2 SubmittersRCV000043102RCV006456648

NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter) SNV
Germline
Chr16:2086360 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021078 rs_45517372

2 SubmittersRCV000043107RCV001047663

NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) SNV
Germline
Chr16:2076572 Pathogenic Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA018233 rs_45517270

6 SubmittersRCV000043109RCV000506994RCV001040727RCV004799760

NM_000548.5(TSC2):c.2639+10C>T SNV
Germline
Chr16:2075902 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA017749 rs_137854378

9 SubmittersRCV000043110RCV000456709RCV000603883RCV001080378

NM_000548.5(TSC2):c.2639+1G>C SNV
Germline
Chr16:2075893 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Single Submitter
CA017760 rs_45517252

2 SubmittersRCV000201066RCV000043111

NM_000548.5(TSC2):c.538C>G (p.Leu180Val) SNV
Germline
Chr16:2055458 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Condition: not provided
Seizure
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA022465 rs_45485591

14 SubmittersRCV000043112RCV000419036RCV000729019RCV000781951RCV000989415RCV001024017

NM_000548.5(TSC2):c.5161-1G>T SNV
Germline
Chr16:2088226 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022018 rs_45517404

2 SubmittersRCV000043114RCV003511993

NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter) SNV
Germline
Chr16:2085280 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020771 rs_45455897

4 SubmittersRCV000043115RCV001215383RCV004724774RCV006434421

NM_000548.5(TSC2):c.4990-6G>A SNV
Germline
Chr16:2087857 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA021478 rs_137853987

3 SubmittersRCV000043117RCV000644345RCV004998142

NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter) SNV
Germline
Chr16:2087907 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA021563 rs_45467993

3 SubmittersRCV000043118RCV000795199RCV005420523

NM_000548.5(TSC2):c.3883+5C>T SNV
Germline
Chr16:2082509 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA019611 rs_45448994

7 SubmittersRCV000043121RCV000477446RCV000491182RCV004537177

NM_000548.5(TSC2):c.4569+12C>T SNV
Germline
Chr16:2085038 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA020659 rs_45517350

5 SubmittersRCV000043122RCV000514983RCV000608845RCV002054855

NM_000548.5(TSC2):c.4849+1G>A SNV
Germline
Chr16:2086380 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA021094 rs_45517375

3 SubmittersRCV000043130RCV000644240RCV002336161

NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro) SNV
Germline
Chr16:2085321 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA020835 rs_45473296

3 SubmittersRCV000043132RCV003511994RCV005089395

NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) SNV
Germline
Chr16:2088251 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA022096 rs_45517409

14 SubmittersRCV000043133RCV000459372RCV000567321RCV001697038RCV004703197RCV004541227

NM_000548.5(TSC2):c.5069-1G>C SNV
Germline
Chr16:2088047 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021646 rs_45517389

2 SubmittersRCV000043134RCV001852899

NM_000548.5(TSC2):c.3398-1G>A SNV
Germline
Chr16:2080164 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA019095 rs_45517293

2 SubmittersRCV000043137RCV002453342

NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro) SNV
Germline
Chr16:2079145 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018468 rs_45438192

2 SubmittersRCV000043140RCV001216513

NM_000548.5(TSC2):c.599+2T>G SNV
Germline
Chr16:2055521 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022631 rs_45484992

2 SubmittersRCV000043142RCV001037420

NM_000548.5(TSC2):c.599+5G>A SNV
Germline
Chr16:2055524 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA022643 rs_45463996

3 SubmittersRCV000043143RCV000792508RCV006274985

NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) SNV
Germline
Chr16:2086788 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA021203 rs_45482398

9 SubmittersRCV000043146RCV000189937RCV000644309RCV001023245

NM_000548.5(TSC2):c.603G>C (p.Met201Ile) SNV
Germline
Chr16:2056199 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA022680 rs_45506197

6 SubmittersRCV000043148RCV000691597RCV001024832

NM_000548.5(TSC2):c.618C>A (p.Cys206Ter) SNV
Germline
Chr16:2056214 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA022690 rs_45498496

2 SubmittersRCV000043149

NM_000548.5(TSC2):c.681C>T (p.Cys227=) SNV
Germline
Chr16:2056676 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA022794 rs_45443205

12 SubmittersRCV000043158RCV000427770RCV000571297RCV000727275RCV001082427RCV004537178

NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) SNV
Germline
Chr16:2056725 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA022889 rs_137854101

2 SubmittersRCV000043163RCV000478154

NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) SNV
Germline
Chr16:2054388 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
See cases
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA020223 rs_137854406

8 SubmittersRCV000043165RCV000431983RCV000476314RCV002287356RCV002326763

NM_000548.5(TSC2):c.600-1G>A SNV
Germline
Chr16:2056195 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022665 rs_45517117

2 SubmittersRCV000043169RCV000685234

NM_000548.5(TSC2):c.600-2A>G SNV
Germline
Chr16:2056194 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022669 rs_45468592

2 SubmittersRCV000043170RCV002283449

NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) SNV
Germline
Chr16:2086809 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA021298 rs_45517379

2 SubmittersRCV000043177RCV000478359

NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) SNV
Germline
Chr16:2088095 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
See cases
Criteria Provided
Conflicting Classifications
CA021761 rs_45517391

16 SubmittersRCV000043179RCV000189943RCV000512881RCV000571102RCV001082733RCV002222154

NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) SNV
Germline
Chr16:2056754 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA022915 rs_45517125

3 SubmittersRCV000043181RCV003311672RCV005089397

NM_000548.5(TSC2):c.774+1G>A SNV
Germline
Chr16:2056770 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA022937 rs_45517128

5 SubmittersRCV000043186RCV000423250RCV001037395

NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) SNV
Germline
Chr16:2057121 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA022990 rs_45517131

2 SubmittersRCV000043188RCV000523170

NM_000548.5(TSC2):c.848+1G>A SNV
Germline
Chr16:2057179 Pathogenic Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA023022 rs_45466296

4 SubmittersRCV000201109RCV000190083RCV000043189

NM_000548.5(TSC2):c.848+281C>T SNV
Germline
Chr16:2057459 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA023025 rs_45517132

9 SubmittersRCV000043190RCV000457139RCV001197516RCV002243690RCV002444498

NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) SNV
Germline
Chr16:2084654 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA020460 rs_45517343

7 SubmittersRCV000043192RCV000474980RCV001022469RCV001086757

NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter) SNV
Germline/somatic
Chr16:2084661 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Neoplasm
Criteria Provided
Single Submitter
CA020472 rs_45446594

3 SubmittersRCV000043193RCV001852900RCV005229859

NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu) SNV
Germline
Chr16:2088105 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA021795 rs_45517393

4 SubmittersRCV000043196RCV000693889RCV004700315

NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) SNV
Germline
Chr16:2088117 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA021840 rs_45517395

13 SubmittersRCV000043197RCV000129852RCV000254730RCV000459221RCV000763367

NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) SNV
Germline
Chr16:2088117 Likely pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Single Submitter
CA021846 rs_45517395

2 SubmittersRCV000201077RCV000043198

NM_000548.5(TSC2):c.5161-1G>A SNV
Germline
Chr16:2088226 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA022008 rs_45517404

4 SubmittersRCV000043210RCV000472098RCV001027854

NM_000548.5(TSC2):c.5161-1G>C SNV
Germline
Chr16:2088226 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA022014 rs_45517404

6 SubmittersRCV000043211RCV001281110RCV005621865

NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter) SNV
Germline
Chr16:2058870 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA023189 rs_45517143

2 SubmittersRCV000043213RCV000462556

NM_000548.5(TSC2):c.975+1G>A SNV
Germline
Chr16:2058874 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA023203 rs_137854200

3 SubmittersRCV000043215RCV003128238

NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) SNV
Germline
Chr16:2088233 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified
Criteria Provided
Conflicting Classifications
CA022058 rs_45517408

3 SubmittersRCV000043216RCV001366989RCV002247426

NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) SNV
Germline
Chr16:2088236 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA022073 rs_45472701

4 SubmittersRCV000043217RCV000201008RCV002336162

NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) SNV
Germline
Chr16:2086265 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020963 rs_45503995

3 SubmittersRCV000043223RCV002298454

NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) SNV
Germline
Chr16:2088294 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA022218 rs_45507199

19 SubmittersRCV000043227RCV000201149RCV000190035RCV002336163RCV004734600RCV005394264

NM_000548.5(TSC2):c.5228G>C (p.Arg1743Pro) SNV
Germline
Chr16:2088294 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022224 rs_45507199

2 SubmittersRCV000043228RCV003511996

NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro) SNV
Germline
Chr16:2088297 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA022245 rs_45517413

2 SubmittersRCV000043229RCV003311673

NM_000548.5(TSC2):c.4849+12C>T SNV
Germline
Chr16:2086391 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lung lymphangioleiomyomatosis
not specified
Criteria Provided
Conflicting Classifications
CA021088 rs_45517373

7 SubmittersRCV000043230RCV001650883RCV002256028RCV002054857RCV005357283RCV005430951

NM_000548.5(TSC2):c.4850-1G>A SNV
Germline
Chr16:2086731 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021116 rs_45517377

2 SubmittersRCV000043232RCV002514172

NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) SNV
Germline
Chr16:2086769 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA021191 rs_137854152

11 SubmittersRCV000043239RCV000431036RCV000464259RCV000564650RCV004541228

NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp) SNV
Germline
Chr16:2086807 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA021290 rs_137854343

4 SubmittersRCV000043245RCV001238557RCV002345329RCV004998143

NM_000548.5(TSC2):c.775-1G>A SNV
Germline
Chr16:2057104 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022965 rs_45454192

2 SubmittersRCV000043251RCV001237072

NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter) SNV
Germline
Chr16:2084619 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020377 rs_45517341

2 SubmittersRCV000043254RCV002513631

NM_000548.5(TSC2):c.4989+1G>T SNV
Germline
Chr16:2086872 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021467 rs_45517386

2 SubmittersRCV000043259RCV005089398

NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys) SNV
Germline
Chr16:2081702 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019506 rs_137854353

3 SubmittersRCV000043283RCV000537246RCV003162359

NM_000548.5(TSC2):c.5068+1G>A SNV
Germline
Chr16:2087942 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA021612 rs_45445199

7 SubmittersRCV000043292RCV001222160RCV001795037RCV005502754

NM_000548.5(TSC2):c.4662+1G>A SNV
Germline
Chr16:2085323 Pathogenic Tuberous sclerosis syndrome
Severe intellectual disability
Infantile spasms
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020846 rs_45514095

4 SubmittersRCV000043297RCV000415345RCV001198320RCV003511998

NM_000548.5(TSC2):c.395C>G (p.Ser132Cys) SNV
Germline
Chr16:2054354 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019748 rs_137854391

6 SubmittersRCV000043300RCV000421754RCV000464621RCV002354225

NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) SNV
Germline
Chr16:2055497 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA022584 rs_45517112

4 SubmittersRCV000043305RCV003485532RCV005089399

NM_000548.5(TSC2):c.3132-2A>C SNV
Germline
Chr16:2079274 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018628 rs_45517282

2 SubmittersRCV000043314RCV002513632

NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) SNV
Germline
Chr16:2086215 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020902 rs_45517362

4 SubmittersRCV000043318RCV000989438RCV000713940RCV002336165

NM_000548.5(TSC2):c.4689C>T (p.Ser1563=) SNV
Germline
Chr16:2086219 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA020905 rs_45517363

6 SubmittersRCV000043319RCV001503285RCV003298087RCV005241337

NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp) SNV
Germline
Chr16:2086230 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA020917 rs_45517364

3 SubmittersRCV000043320RCV002336166RCV006253753

NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) SNV
Germline
Chr16:2079398 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018749 rs_45517287

3 SubmittersRCV000043321RCV003511999

NM_000548.5(TSC2):c.3284+1G>A SNV
Germline
Chr16:2079429 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA018811 rs_45517289

6 SubmittersRCV000043323RCV000690660RCV000728085

NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) SNV
Germline
Chr16:2079428 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA018827 rs_1555510754

6 SubmittersRCV000043324RCV001042713RCV002321537RCV003313034

NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter) SNV
Germline
Chr16:2079627 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018947 rs_45517292

2 SubmittersRCV000043329RCV001230710

NM_000548.5(TSC2):c.336+1G>A SNV
Germline
Chr16:2053453 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA018966 rs_45517102

3 SubmittersRCV000043330RCV000476030RCV003332095

NM_000548.5(TSC2):c.336+2T>G SNV
Germline
Chr16:2053454 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA018982 rs_45505995

2 SubmittersRCV000043331RCV003233097

NM_000548.5(TSC2):c.5069-2A>G SNV
Germline
Chr16:2088046 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021662 rs_45487291

3 SubmittersRCV000043332RCV000815382

NM_000548.5(TSC2):c.3397+5G>A SNV
Germline
Chr16:2079674 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA019083 rs_45501492

3 SubmittersRCV000043341RCV000190074RCV002514174

NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) SNV
Germline
Chr16:2075802 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017661 rs_45517248

3 SubmittersRCV000043343RCV000491444RCV001852902

NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) SNV
Germline
Chr16:2075838 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA017697 rs_45517249

10 SubmittersRCV000043344RCV000612238RCV001087230RCV002255269

NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter) SNV
Germline
Chr16:2075843 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA017705 rs_45517250

5 SubmittersRCV000043346RCV001211580RCV002247427

NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) SNV
Germline
Chr16:2080209 Pathogenic Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA019175 rs_45477491

5 SubmittersRCV000043353RCV000055289RCV000478926RCV000644112RCV005394266

NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu) SNV
Germline
Chr16:2080243 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019201 rs_45473098

6 SubmittersRCV000043355RCV000477075RCV000568240

NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) SNV
Germline
Chr16:2080258 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA019211 rs_45448801

15 SubmittersRCV000043356RCV000228930RCV000567364RCV001699111RCV001727553RCV004537179

NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter) SNV
Germline
Chr16:2076128 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017927 rs_45517257

2 SubmittersRCV000043359RCV001054715

NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro) SNV
Germline
Chr16:2086263 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020960 rs_45517367

3 SubmittersRCV000043361RCV000820413

NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg) SNV
Germline
Chr16:2086281 Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020979 rs_137854203

3 SubmittersRCV000043362RCV002326765RCV002514176

NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) SNV
Germline
Chr16:2086292 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020985 rs_45479192

6 SubmittersRCV000043363RCV000201115RCV000991340

NM_000548.5(TSC2):c.2742G>A (p.Lys914=) SNV
Germline
Chr16:2076170 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018006 rs_137854877

3 SubmittersRCV000043370RCV000657885RCV005089400

NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg) SNV
Germline
Chr16:2071923 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA016629 rs_45483301

2 SubmittersRCV000043372RCV000807899

NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) SNV
Germline
Chr16:2071924 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016643 rs_45486196

4 SubmittersRCV000043373RCV000490930RCV001240824

NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter) SNV
Germline
Chr16:2080341 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019287 rs_45517298

2 SubmittersRCV000043376RCV001852903

NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) SNV
Germline
Chr16:2072337 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA016897 rs_45517216

5 SubmittersRCV000043385RCV000484682RCV000811066RCV002426589

NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro) SNV
Germline
Chr16:2072341 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016906 rs_45517217

3 SubmittersRCV000043386RCV002273946

NM_000548.5(TSC2):c.2220+1G>T SNV
Germline
Chr16:2072364 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA016946 rs_137854361

3 SubmittersRCV000043387RCV000722174

NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln) SNV
Germline
Chr16:2084535 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA020250 rs_45448791

6 SubmittersRCV000043391RCV000543604RCV001022275RCV004700316

NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys) SNV
Germline
Chr16:2084546 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA020286 rs_45469392

7 SubmittersRCV000043392RCV000536583RCV001022298RCV004537180

NM_000548.5(TSC2):c.1444-1G>A SNV
Germline
Chr16:2064271 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA014864 rs_45515902

3 SubmittersRCV000043394RCV002514178

NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) SNV
Germline
Chr16:2072879 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA017090 rs_45517222

12 SubmittersRCV000043398RCV000201032RCV000519394RCV000763365RCV002444499RCV004566812

NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) SNV
Germline
Chr16:2072981 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017226 rs_45517226

5 SubmittersRCV000043411RCV000760361RCV003512001

NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter) SNV
Germline
Chr16:2065580 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA015421 rs_45471596

2 SubmittersRCV000043413RCV001852905

NM_000548.5(TSC2):c.1716+1G>A SNV
Germline
Chr16:2065636 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA015487 rs_45517190

3 SubmittersRCV000043415RCV003332096RCV002399402

NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) SNV
Germline
Chr16:2081595 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019384 rs_45462194

5 SubmittersRCV000043416RCV000201026RCV000414012

NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter) SNV
Germline
Chr16:2074214 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA017308 rs_45517232

3 SubmittersRCV000043424RCV001852907RCV002453343

NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) SNV
Germline
Chr16:2070532 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA015795 rs_45509791

5 SubmittersRCV000043430RCV000473316RCV004948152RCV006449963

NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter) SNV
Germline
Chr16:2070533 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA015804 rs_45509094

3 SubmittersRCV000043431RCV003512002RCV003114226

NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) SNV
Germline
Chr16:2061884 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA013884 rs_45517154

11 SubmittersRCV000043432RCV000572792RCV000842561RCV001084867RCV004734601

NM_000548.5(TSC2):c.300G>A (p.Ala100=) SNV
Germline
Chr16:2053416 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA018399 rs_45517100

13 SubmittersRCV000043438RCV000163268RCV000251650RCV000724097RCV001082842

NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) SNV
Germline
Chr16:2062000 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA014169 rs_45517158

3 SubmittersRCV000043443RCV000660342

NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) SNV
Germline
Chr16:2062006 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014179 rs_45517159

2 SubmittersRCV000043444RCV000201101

NM_000548.5(TSC2):c.1839+1G>T SNV
Germline
Chr16:2070579 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015948 rs_45438400

3 SubmittersRCV000043446RCV000498860RCV003512003

NM_000548.5(TSC2):c.1293G>A (p.Ala431=) SNV
Germline
Chr16:2062532 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA014379 rs_45517162

10 SubmittersRCV000043449RCV000163730RCV000476624RCV001707517

NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) SNV
Germline
Chr16:2074291 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA017430 rs_45517236

5 SubmittersRCV000043451RCV000430436RCV001705694

NM_000548.5(TSC2):c.1362-10C>A SNV
Germline
Chr16:2062962 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA014539 rs_45446697

11 SubmittersRCV000043454RCV000535683RCV001797054RCV002381328RCV003466896RCV004528239

NM_000548.5(TSC2):c.1362-2A>G SNV
Germline
Chr16:2062970 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014545 rs_45517165

2 SubmittersRCV000043455RCV001388104

NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) SNV
Germline
Chr16:2048751 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014603 rs_137854266

2 SubmittersRCV000043457RCV002470737

NM_000548.5(TSC2):c.1947-2A>G SNV
Germline
Chr16:2071782 Pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA016294 rs_45517207

2 SubmittersRCV000043459RCV004678604

NM_000548.5(TSC2):c.138+5G>A SNV
Germline/somatic
Chr16:2048758 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Neoplasm
Criteria Provided
Multiple Submitters
No Conflicts
CA014690 rs_45481400

6 SubmittersRCV000043461RCV001380069RCV001843466RCV002496685RCV004668763

NM_000548.5(TSC2):c.1385G>A (p.Arg462His) SNV
Germline
Chr16:2062995 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA014699 rs_45494392

7 SubmittersRCV000043462RCV000528206RCV001562608RCV002390182RCV003466897

NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) SNV
Germline
Chr16:2063007 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014733 rs_45481199

2 SubmittersRCV000043463RCV000807349

NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) SNV
Germline
Chr16:2063007 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA014742 rs_45481199

2 SubmittersRCV000043464RCV000482403

NM_000368.5(TSC1):c.853T>G (p.Phe285Val) SNV
Germline
Chr9:132912342 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Kidney failure
Criteria Provided
Conflicting Classifications
CA008327 rs_377076733

12 SubmittersRCV000054874RCV000122199RCV000465974RCV000568811RCV001618239RCV005625256

NM_000368.5(TSC1):c.325C>T (p.Gln109Ter) SNV
Germline
Chr9:132925625 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA007276 rs_397514774

4 SubmittersRCV000054876RCV000823533RCV002307386

NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) SNV
Germline
Chr9:132925690 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006706 rs_397514776

4 SubmittersRCV000054878RCV000305404RCV004018978RCV003505092

NM_000368.5(TSC1):c.397G>A (p.Val133Ile) SNV
Germline
Chr9:132923459 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA007561 rs_118203381

8 SubmittersRCV000054879RCV000456358RCV000782214RCV002371892RCV005049413

NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) SNV
Germline
Chr9:132902724 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006205 rs_397514783

5 SubmittersRCV000054888RCV000428655RCV000705433

NM_000368.5(TSC1):c.395G>A (p.Gly132Asp) SNV
Germline
Chr9:132923461 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA007549 rs_397514784

3 SubmittersRCV000054889RCV002513715RCV006287157

NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) SNV
Germline
Chr9:132903779 Pathogenic Malignant tumor of urinary bladder
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA005924 rs_397514789

3 SubmittersRCV000054918RCV000054897RCV002267724RCV002509195

NM_000368.5(TSC1):c.2077G>C (p.Asp693His) SNV
Germline
Chr9:132903782 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA005916 rs_397514800

10 SubmittersRCV000054914RCV000564681RCV000724243RCV001083507RCV003407435

NM_000368.5(TSC1):c.508+1G>A SNV
Germline
Chr9:132923347 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA007652 rs_118203390

2 SubmittersRCV000054919RCV002291555

NM_000368.5(TSC1):c.1439-1G>A SNV
Germline
Chr9:132906140 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA004817 rs_397514804

3 SubmittersRCV000054925RCV001039771RCV001781387

NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) SNV
Germline
Chr9:132896294 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA007378 rs_397514806

10 SubmittersRCV000054927RCV000831184RCV001084718RCV001020306RCV003398644RCV005042170

NM_000368.5(TSC1):c.915G>A (p.Gly305=) SNV
Germline
Chr9:132911567 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA008416 rs_397515293

10 SubmittersRCV000054929RCV000526995RCV001018932RCV001570973RCV005437966

NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) SNV
Germline
Chr9:132911475 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA004301 rs_397514808

6 SubmittersRCV000054930RCV000215128RCV000465854

NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) SNV
Germline
Chr9:132927229 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA005458 rs_118203345

2 SubmittersRCV000054934RCV000461024

NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly) SNV
Germline
Chr9:132901660 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA006430 rs_397514814

3 SubmittersRCV000054939RCV000641963RCV005042171

NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter) SNV
Germline
Chr9:132905702 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA005496 rs_397514815

2 SubmittersRCV000054940RCV002515741

NM_000368.5(TSC1):c.211-1G>T SNV
Germline
Chr9:132925740 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA006049 rs_118203353

2 SubmittersRCV000054944RCV000797052

NM_000368.5(TSC1):c.1141+1G>T SNV
Germline
Chr9:132911001 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA004442 rs_397514819

2 SubmittersRCV000054948RCV001508280

NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter) SNV
Germline
Chr9:132903668 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006117 rs_397514820

3 SubmittersRCV000054949RCV001389750

NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) SNV
Germline
Chr9:132910603 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Craniopharyngioma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA004502 rs_397514840

6 SubmittersRCV000054977RCV000474632RCV000761088RCV002362687

NM_000368.5(TSC1):c.2041+1G>A SNV
Germline
Chr9:132904410 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA005819 rs_397514842

4 SubmittersRCV000054979RCV000201001

NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter) SNV
Germline
Chr9:132905819 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA005369 rs_397514846

2 SubmittersRCV000054983RCV001250493

NM_000368.5(TSC1):c.2626-1G>A SNV
Germline
Chr9:132897611 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA006719 rs_397514847

5 SubmittersRCV000054985RCV001250494RCV006250247

NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) SNV
Germline
Chr9:132897227 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA007103 rs_397514859

9 SubmittersRCV000055001RCV000724068RCV001081160RCV002316209

NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) SNV
Germline
Chr9:132902607 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA006376 rs_397514862

6 SubmittersRCV000055004RCV000413404RCV000551066RCV002496733

NM_000368.5(TSC1):c.346T>G (p.Leu116Val) SNV
Germline
Chr9:132925604 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Autism spectrum disorder
not specified
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 1
TSC1-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA007386 rs_199620268

19 SubmittersRCV000055005RCV000055027RCV000122184RCV000163292RCV000372436RCV000725839RCV001080106RCV003934997RCV005394288

NM_000368.5(TSC1):c.1922C>A (p.Pro641His) SNV
Germline
Chr9:132905656 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA005606 rs_397514863

8 SubmittersRCV000055006RCV000555785RCV001013706RCV006258994

NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) SNV
Germline
Chr9:132896343 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA007340 rs_200200869

14 SubmittersRCV000055007RCV000193910RCV000234681RCV000296323RCV000563418RCV003884344RCV005394289

NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) SNV
Germline
Chr9:132911059 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA004402 rs_397514864

8 SubmittersRCV000055009RCV000217275RCV000642024RCV000725515

NM_000368.5(TSC1):c.542A>C (p.His181Pro) SNV
Germline
Chr9:132921940 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Single Submitter
CA007715 rs_397515294

2 SubmittersRCV000055010RCV002273951

NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) SNV
Germline
Chr9:132912329 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA008332 rs_397514867

4 SubmittersRCV000055015RCV000201058

NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) SNV
Germline
Chr9:132897538 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA006903 rs_397514871

4 SubmittersRCV000055019RCV000201112RCV002426611RCV002508192

NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter) SNV
Germline
Chr9:132903731 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA006060 rs_397514874

2 SubmittersRCV000055023RCV000521121

NM_000368.5(TSC1):c.737+1G>T SNV
Germline
Chr9:132921362 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA008101 rs_118203438

3 SubmittersRCV000055031RCV000498128RCV002381356

NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) SNV
Germline
Chr9:132923383 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA007609 rs_118203385

4 SubmittersRCV000055032RCV003480047RCV002513716

NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) SNV
Germline
Chr9:132897460 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA006974 rs_397514879

4 SubmittersRCV000055038RCV001853084RCV002496734RCV005638414

NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) SNV
Germline
Chr16:2082492 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA019604 rs_201135184

9 SubmittersRCV000055045RCV000164851RCV000475134RCV001703956

NM_000548.5(TSC2):c.1656A>G (p.Ala552=) SNV
Germline
Chr16:2065575 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA015413 rs_373515515

9 SubmittersRCV000055049RCV000989419RCV001012581

NM_000548.5(TSC2):c.912G>A (p.Trp304Ter) SNV
Germline
Chr16:2058810 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA023112 rs_397514884

2 SubmittersRCV000055050RCV005089451

NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter) SNV
Germline
Chr16:2086343 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA021019 rs_397514888

5 SubmittersRCV000055057RCV001069066RCV006445485

NM_000548.5(TSC2):c.1257+2T>G SNV
Germline
Chr16:2062010 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA014229 rs_45509697

2 SubmittersRCV000055064RCV000516685

NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) SNV
Germline
Chr16:2061972 Likely pathogenic Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Single Submitter
CA014091 rs_397514897

2 SubmittersRCV000055071RCV003460649

NM_000548.5(TSC2):c.599+3A>G SNV
Germline
Chr16:2055522 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA022636 rs_397514899

8 SubmittersRCV000055073RCV000557913RCV001529485RCV002354246RCV003466926

NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) SNV
Germline
Chr16:2080249 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019204 rs_397514901

5 SubmittersRCV000055075RCV000644377RCV002453368

NM_000548.5(TSC2):c.3814+1G>A SNV
Germline
Chr16:2081799 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019560 rs_397514902

2 SubmittersRCV000055076RCV001853085

NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) SNV
Germline
Chr16:2064275 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA014898 rs_397515297

4 SubmittersRCV000055085RCV000201103RCV000491130

NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) SNV
Germline
Chr16:2076116 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017887 rs_397514913

2 SubmittersRCV000055089RCV000233779

NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) SNV
Germline
Chr16:2071534 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
TSC2-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA016088 rs_397514914

14 SubmittersRCV000055090RCV000574001RCV000644057RCV001562207RCV004537239

NM_000548.5(TSC2):c.1840-2A>G SNV
Germline
Chr16:2071508 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA015992 rs_45517205

4 SubmittersRCV000055096RCV001853086RCV004589546RCV004798765

NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) SNV
Germline
Chr16:2079326 Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA018665 rs_397514919

2 SubmittersRCV000055098RCV000491308

NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro) SNV
Germline
Chr16:2064411 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA015160 rs_397514922

3 SubmittersRCV000055102RCV003441735RCV003512005

NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter) SNV
Germline
Chr16:2064335 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA014993 rs_397514929

2 SubmittersRCV000055110RCV001575872

NM_000548.5(TSC2):c.245G>A (p.Trp82Ter) SNV
Germline
Chr16:2053361 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017462 rs_397514933

2 SubmittersRCV000055114RCV001853087

NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) SNV
Germline
Chr16:2074375 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017563 rs_397515303

3 SubmittersRCV000055123RCV001253278

NM_000548.5(TSC2):c.4006-2A>G SNV
Germline
Chr16:2084226 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA019821 rs_397514941

3 SubmittersRCV000055124RCV001241710RCV002247449

NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) SNV
Germline
Chr16:2079649 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA019052 rs_397514945

10 SubmittersRCV000055129RCV000465863RCV001020133RCV001697040RCV004799769

NM_000548.5(TSC2):c.170G>A (p.Arg57His) SNV
Germline
Chr16:2050431 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA015456 rs_397514949

5 SubmittersRCV000055135RCV000472366RCV002399416RCV003482235

NM_000548.5(TSC2):c.1840-1G>A SNV
Germline/somatic
Chr16:2071509 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA015975 rs_397514953

2 SubmittersRCV000055139RCV002266919

NM_000548.5(TSC2):c.1281C>G (p.Ile427Met) SNV
Germline
Chr16:2062520 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA014342 rs_45478892

7 SubmittersRCV000055143RCV000463226RCV001010730RCV002490630RCV004998177

NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser) SNV
Germline
Chr16:2083754 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019722 rs_397514916

3 SubmittersRCV000055150RCV001853088RCV002371894

NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile) SNV
Germline
Chr16:2071592 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA016207 rs_397514964

3 SubmittersRCV000055155RCV005089453RCV006287159

NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) SNV
Germline
Chr16:2060734 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA013642 rs_367963898

8 SubmittersRCV000055159RCV001009773RCV001079443

NM_000548.5(TSC2):c.2859C>T (p.Pro953=) SNV
Germline
Chr16:2077619 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA018284 rs_397514968

9 SubmittersRCV000055161RCV000527425RCV001088583RCV002433550

NM_000548.5(TSC2):c.975+1G>T SNV
Germline
Chr16:2058874 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA023206 rs_137854200

2 SubmittersRCV000055163RCV000989416

NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter) SNV
Germline
Chr16:2079582 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018873 rs_397514978

3 SubmittersRCV000055175RCV000814891

NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) SNV
Germline
Chr16:2081607 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019419 rs_397514979

2 SubmittersRCV000055176RCV000460919

NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) SNV
Germline
Chr16:2064320 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA014970 rs_45517178

7 SubmittersRCV000055190RCV000189888RCV001853090RCV002390202RCV003480048RCV005016352

NM_000548.5(TSC2):c.481+5G>A SNV
Germline
Chr16:2054445 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021022 rs_137854135

2 SubmittersRCV000055192RCV001039974

NM_000548.5(TSC2):c.1564C>T (p.His522Tyr) SNV
Germline
Chr16:2064392 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA015081 rs_397514991

3 SubmittersRCV000055196RCV000547543RCV003298099

NM_000548.5(TSC2):c.2370C>A (p.Tyr790Ter) SNV
Germline
Chr16:2074214 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017302 rs_45517232

2 SubmittersRCV000055199RCV005089454

NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) SNV
Germline
Chr16:2064342 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA015034 rs_376285784

6 SubmittersRCV000055200RCV000688733RCV001011980RCV001085948

NM_000548.5(TSC2):c.1946+1G>C SNV
Germline
Chr16:2071617 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA016266 rs_397514994

2 SubmittersRCV000055202RCV006461334

NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter) SNV
Germline
Chr16:2084300 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019910 rs_397514997

2 SubmittersRCV000055207RCV002513717

NM_000548.5(TSC2):c.3884-1G>C SNV
Germline
Chr16:2083694 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019636 rs_137854079

5 SubmittersRCV000055209RCV001508404RCV001250501

NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter) SNV
Germline
Chr16:2084246 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019843 rs_397515003

3 SubmittersRCV000055216RCV001387404RCV004998178

NM_000548.5(TSC2):c.734G>A (p.Arg245His) SNV
Germline
Chr16:2056729 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA022905 rs_397515011

11 SubmittersRCV000055226RCV000234531RCV000248644RCV000570250

NM_000548.5(TSC2):c.4787G>T (p.Gly1596Val) SNV
Germline
Chr16:2086317 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA021002 rs_397515014

2 SubmittersRCV000055229RCV005252721

NM_000548.5(TSC2):c.700G>T (p.Glu234Ter) SNV
Germline
Chr16:2056695 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022813 rs_397515018

2 SubmittersRCV000055233RCV006461335

NM_000548.5(TSC2):c.3814+1G>C SNV
Germline
Chr16:2081799 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA019563 rs_397514902

2 SubmittersRCV000055237RCV003114236

NM_000548.5(TSC2):c.340G>T (p.Glu114Ter) SNV
Germline
Chr16:2054299 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019116 rs_397515021

2 SubmittersRCV000055238RCV002515743

NM_000548.5(TSC2):c.337-1G>A SNV
Germline
Chr16:2054295 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA019014 rs_45517105

5 SubmittersRCV000055243RCV000518372RCV000553650

NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter) SNV
Germline
Chr16:2084390 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Cervical cancer
Criteria Provided
Single Submitter
CA020028 rs_397515033

3 SubmittersRCV000055256RCV003441736RCV005890369

NM_000548.5(TSC2):c.585C>A (p.Ile195=) SNV
Germline
Chr16:2055505 Likely pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA022589 rs_397515309

2 SubmittersRCV000055257

NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter) SNV
Germline
Chr16:2084252 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
No Assertion Criteria Provided
CA019846 rs_397515035

2 SubmittersRCV000055259RCV001194685

NM_000548.5(TSC2):c.187C>T (p.Gln63Ter) SNV
Germline
Chr16:2050448 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA016129 rs_397515039

2 SubmittersRCV000055264RCV005600634

NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) SNV
Germline
Chr16:2076498 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA018086 rs_397515046

9 SubmittersRCV000055272RCV000574785RCV000533205RCV001531839

NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro) SNV
Germline
Chr16:2076093 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017834 rs_397515054

2 SubmittersRCV000055281RCV001853092

NM_000548.5(TSC2):c.1678G>A (p.Val560Met) SNV
Germline
Chr16:2065597 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA015425 rs_141631268

10 SubmittersRCV000055282RCV000562096RCV000765264RCV000782250RCV001080544

NM_000548.5(TSC2):c.573C>T (p.Leu191=) SNV
Germline
Chr16:2055493 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA022574 rs_397515059

8 SubmittersRCV000055288RCV000552561RCV001024464RCV004772835

NM_000548.5(TSC2):c.1754G>A (p.Arg585His) SNV
Germline
Chr16:2070493 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA015651 rs_397515063

9 SubmittersRCV000055294RCV000544349RCV000567865

NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter) SNV
Germline
Chr16:2084972 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA020588 rs_45471791

3 SubmittersRCV000055298RCV001281109

NM_000548.5(TSC2):c.1257+1G>A SNV
Germline
Chr16:2062009 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA014198 rs_397515066

5 SubmittersRCV000055300RCV000680620

NM_000548.5(TSC2):c.849-1G>C SNV
Germline
Chr16:2058746 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA023041 rs_45506396

3 SubmittersRCV000055302RCV000660341

NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro) SNV
Germline
Chr16:2085303 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020803 rs_397515070

2 SubmittersRCV000055306RCV003512006

NM_000548.5(TSC2):c.2742+5G>A SNV
Germline
Chr16:2076175 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018002 rs_397515076

2 SubmittersRCV000055312RCV001853093

NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) SNV
Germline
Chr16:2056218 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA022695 rs_374410454

10 SubmittersRCV000055314RCV000533936RCV001553178RCV002255276

NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) SNV
Germline
Chr16:2075885 Conflicting classifications of pathogenicity Autism spectrum disorder
Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA017740 rs_397515077

10 SubmittersRCV000055380RCV000055315RCV000189909RCV000562671RCV000644061RCV004998179

NM_000548.5(TSC2):c.190A>G (p.Ile64Val) SNV
Germline
Chr16:2050451 Conflicting classifications of pathogenicity Autism spectrum disorder
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA016191 rs_397515081

8 SubmittersRCV000055320RCV000644085RCV001118864RCV002408557RCV003466927

NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) SNV
Germline
Chr16:2079380 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA018734 rs_397515087

4 SubmittersRCV000055329RCV000190073RCV001853094RCV002496738

NM_000548.5(TSC2):c.973C>T (p.Gln325Ter) SNV
Germline
Chr16:2058871 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA023195 rs_397515097

5 SubmittersRCV000055343RCV002371895RCV002250551RCV005434624

NM_000548.5(TSC2):c.1599+5G>A SNV
Germline
Chr16:2064432 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA015213 rs_397515100

4 SubmittersRCV000055346RCV001012363RCV000816898

NM_000548.5(TSC2):c.225+2T>A SNV
Germline
Chr16:2050488 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017093 rs_397515105

2 SubmittersRCV000055351RCV005089455

NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) SNV
Germline
Chr16:2058808 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA023104 rs_397515108

11 SubmittersRCV000055358RCV000795349RCV001562466RCV002054888RCV002371896RCV004528260

NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) SNV
Germline
Chr16:2088051 Conflicting classifications of pathogenicity Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA021670 rs_397515110

8 SubmittersRCV000055361RCV000644174RCV002336202RCV003996478RCV004537241RCV005007983RCV005054153

NM_000548.5(TSC2):c.1361+2T>C SNV
Germline
Chr16:2062602 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014520 rs_397515301

2 SubmittersRCV000055366RCV003985724

NM_000548.5(TSC2):c.4850-2A>C SNV
Germline
Chr16:2086730 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021121 rs_397515315

2 SubmittersRCV000055367RCV006436422

NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe) SNV
Germline
Chr16:2087890 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA021508 rs_45490993

3 SubmittersRCV000055369RCV001342211RCV002336203

NM_000548.5(TSC2):c.226-1G>A SNV
Germline
Chr16:2053341 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA017118 rs_397515134

5 SubmittersRCV000055397RCV001379463RCV004018982RCV004537243RCV005429221

NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser) SNV
Germline
Chr16:2070558 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA015864 rs_45517203

3 SubmittersRCV000055401RCV002513720RCV003380408

NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) SNV
Germline
Chr16:2060727 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA013622 rs_397515146

7 SubmittersRCV000055413RCV000539242RCV000765261RCV001355778

NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser) SNV
Germline
Chr16:2084711 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA020513 rs_45517344

3 SubmittersRCV000055424RCV001230160RCV003332112

NM_000548.5(TSC2):c.1840-3C>G SNV
Germline
Chr16:2071507 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016005 rs_397515154

3 SubmittersRCV000055428RCV001853095

NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) SNV
Germline
Chr16:2086839 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021390 rs_397515159

2 SubmittersRCV000055434RCV000989440

NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) SNV
Germline
Chr16:2088134 Conflicting classifications of pathogenicity Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA021901 rs_201206500

7 SubmittersRCV000055435RCV000468508RCV000572428RCV003162430RCV003996480

NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) SNV
Germline
Chr16:2060695 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA013517 rs_45484892

4 SubmittersRCV000055437RCV001730486RCV002381358

NM_000548.5(TSC2):c.2197C>G (p.Leu733Val) SNV
Germline
Chr16:2072340 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016903 rs_397515163

3 SubmittersRCV000055442RCV002051805

NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) SNV
Germline
Chr16:2053408 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA018319 rs_372321790

10 SubmittersRCV000055443RCV000573567RCV000989413RCV001555447

NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) SNV
Germline
Chr16:2084955 Conflicting classifications of pathogenicity Lymphangiomyomatosis
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA020558 rs_397515167

7 SubmittersRCV000055449RCV000166370RCV000518605RCV000813618RCV003996481

NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter) SNV
Germline
Chr16:2080348 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA019307 rs_397515168

3 SubmittersRCV000055451RCV003512007RCV006449975

NM_000548.5(TSC2):c.3611-2A>T SNV
Germline
Chr16:2081593 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA019377 rs_397515169

2 SubmittersRCV000055453RCV003886372

NM_000548.5(TSC2):c.5160+2T>C SNV
Germline/somatic
Chr16:2088141 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA021940 rs_397515170

4 SubmittersRCV000722175RCV000055455RCV000579195

NM_000548.5(TSC2):c.4928A>G (p.Asn1643Ser) SNV
Germline
Chr16:2086810 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021305 rs_45517380

2 SubmittersRCV000055457RCV006461337

NM_000548.5(TSC2):c.774+1G>T SNV
Germline
Chr16:2056770 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022944 rs_45517128

2 SubmittersRCV000055458RCV002513722

NM_000548.5(TSC2):c.4859A>G (p.His1620Arg) SNV
Germline/somatic
Chr16:2086741 Likely pathogenic Tuberous sclerosis syndrome
Everolimus response
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA021150 rs_397515177

3 SubmittersRCV000055464RCV000590930RCV002513723

NM_000548.5(TSC2):c.3284+1G>C SNV
Germline
Chr16:2079429 Pathogenic Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018815 rs_45517289

3 SubmittersRCV000055466RCV005016353RCV005089456

NM_000548.5(TSC2):c.976-14G>A SNV
Germline
Chr16:2060656 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA023216 rs_397515186

2 SubmittersRCV000055477RCV006461339

NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) SNV
Germline
Chr16:2062537 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA014387 rs_397515187

6 SubmittersRCV000055478RCV000475576RCV001010823

NM_000548.5(TSC2):c.2220+1G>A SNV
Germline
Chr16:2072364 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA016941 rs_137854361

3 SubmittersRCV000055480RCV004998181RCV005089457

NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro) SNV
Germline
Chr16:2060713 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA013603 rs_397515192

3 SubmittersRCV000055485RCV001221077

NM_000548.5(TSC2):c.2640-1G>A SNV
Germline
Chr16:2076067 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA017781 rs_397515203

3 SubmittersRCV000055498RCV000518987RCV001853097

NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) SNV
Germline
Chr16:2062582 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA014458 rs_397515206

4 SubmittersRCV000055502RCV000760985

NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) SNV
Germline
Chr16:2079341 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA018667 rs_397515207

4 SubmittersRCV000055504RCV000498705RCV002298458

NM_000548.5(TSC2):c.3G>A (p.Met1Ile) SNV
Germline
Chr16:2048618 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA019804 rs_397515208

2 SubmittersRCV000055506RCV003512008

NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) SNV
Germline
Chr16:2083800 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Autism spectrum disorder
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA019782 rs_397515209

12 SubmittersRCV000055604RCV000055507RCV000190025RCV000458400RCV000571810RCV001703964RCV004542721

NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) SNV
Germline
Chr16:2087908 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA021570 rs_370404391

12 SubmittersRCV000055511RCV000163808RCV000189940RCV000585252RCV001081308RCV004537246

NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu) SNV
Germline
Chr16:2088294 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022229 rs_45507199

2 SubmittersRCV000055513RCV001814036

NM_000548.5(TSC2):c.2743-9C>G SNV
Germline
Chr16:2076482 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018065 rs_397515319

3 SubmittersRCV000055522RCV000490107RCV000816368

NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) SNV
Germline
Chr16:2086750 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021153 rs_397515220

4 SubmittersRCV000055523RCV000413607RCV001854154

NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr) SNV
Germline
Chr16:2084715 Likely pathogenic Tuberous sclerosis syndrome
TSC2-related disorder
See cases
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020540 rs_137854879

4 SubmittersRCV000055526RCV004537247RCV004584341RCV006456665

NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys) SNV
Germline
Chr16:2079196 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018596 rs_397515302

2 SubmittersRCV000055531RCV001388145

NM_000548.5(TSC2):c.26C>G (p.Ser9Ter) SNV
Germline
Chr16:2048641 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017918 rs_397515228

2 SubmittersRCV000055535RCV001248431

NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val) SNV
Germline
Chr16:2086230 Likely pathogenic Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA020919 rs_45517364

2 SubmittersRCV000055542RCV005055554

NM_000548.5(TSC2):c.2113G>A (p.Val705Met) SNV
Germline
Chr16:2072256 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA016792 rs_397515241

8 SubmittersRCV000055552RCV000494277RCV000660343RCV002415509

NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) SNV
Germline
Chr16:2084670 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA020481 rs_370114027

8 SubmittersRCV000055556RCV000475203RCV000566285RCV000831461

NM_000548.5(TSC2):c.1789C>T (p.His597Tyr) SNV
Germline
Chr16:2070528 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Single Submitter
CA015730 rs_397515246

3 SubmittersRCV000055558RCV001824119RCV005016354

NM_000548.5(TSC2):c.1946+2T>C SNV
Germline
Chr16:2071618 Pathogenic Tuberous sclerosis syndrome
Condition: not provided
Uterine corpus endometrial carcinoma
Nonpapillary renal cell carcinoma
Criteria Provided
Single Submitter
CA016272 rs_397515247

4 SubmittersRCV000055559RCV001580377RCV005890372RCV005890371

NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) SNV
Germline
Chr16:2056651 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA022749 rs_397515249

4 SubmittersRCV000055561RCV001053191RCV004700354

NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly) SNV
Germline
Chr16:2079148 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA018479 rs_397515255

2 SubmittersRCV000055568RCV006612212

NM_000548.5(TSC2):c.1443+1G>T SNV
Germline
Chr16:2063054 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA014818 rs_397515257

2 SubmittersRCV000055570RCV000466789

NM_000548.5(TSC2):c.340G>A (p.Glu114Lys) SNV
Germline
Chr16:2054299 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019111 rs_397515021

6 SubmittersRCV000055573RCV000227736RCV001020231

NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys) SNV
Germline
Chr16:2062994 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA014666 rs_397515261

6 SubmittersRCV000055574RCV000703585RCV003298102RCV005429222

NM_000548.5(TSC2):c.2545+2T>C SNV
Germline
Chr16:2074391 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA017604 rs_397515262

2 SubmittersRCV000055575RCV003512010

NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu) SNV
Germline
Chr16:2084364 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA020000 rs_397515264

4 SubmittersRCV000055577RCV000475654RCV003162432

NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) SNV
Germline
Chr16:2084358 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA019991 rs_137854065

14 SubmittersRCV000055582RCV000575789RCV000731274RCV001083321RCV004537249RCV005890373

NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro) SNV
Germline
Chr16:2088230 Likely pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA022052 rs_397515270

2 SubmittersRCV000055584RCV005089460

NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) SNV
Germline
Chr16:2088102 Likely pathogenic Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA021783 rs_397515274

2 SubmittersRCV000055589RCV002345361

NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter) SNV
Germline
Chr16:2086237 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA020928 rs_397515277

2 SubmittersRCV000055592RCV002513725

NM_000548.5(TSC2):c.4850-2A>G SNV
Germline
Chr16:2086730 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021123 rs_397515315

3 SubmittersRCV000055594RCV001250762

NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile) SNV
Germline
Chr16:2079347 Pathogenic Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA018678 rs_397515284

3 SubmittersRCV000055605RCV001042510

NM_000548.5(TSC2):c.454C>G (p.His152Asp) SNV
Germline
Chr16:2054413 Conflicting classifications of pathogenicity Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA020642 rs_397515285

9 SubmittersRCV000055607RCV000465969RCV000575914RCV001557660RCV003996482

NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) SNV
Germline
Chr16:2071846 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Epilepsy
Criteria Provided
Conflicting Classifications
CA016425 rs_397515288

14 SubmittersRCV000055611RCV000189898RCV000204401RCV000567608RCV004542724RCV005625258

NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter) SNV
Germline
Chr1:173909689 Pathogenic Tuberous sclerosis 2
Hereditary antithrombin deficiency
Reviewed By Expert Panel
CA150667 rs_483352856

3 SubmittersRCV000087276RCV001857426

NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr) SNV
Germline
Chr1:173910875 Likely pathogenic Tuberous sclerosis 2
Hereditary antithrombin deficiency
Criteria Provided
Single Submitter
CA150697 rs_483352854

2 SubmittersRCV000087290RCV002514538

NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) SNV
Germline
Chr9:132906800 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA004748 rs_587778722

10 SubmittersRCV000122188RCV000475364RCV000562597RCV001704038RCV003153402RCV003997359

NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) SNV
Germline
Chr9:132905657 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA005597 rs_374222196

13 SubmittersRCV000122190RCV000163665RCV000725780RCV001080054RCV003945105RCV005401329

NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) SNV
Germline
Chr9:132896590 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA007195 rs_587778726

9 SubmittersRCV000122195RCV000545661RCV001707532RCV002321603RCV003997360

NM_000548.5(TSC2):c.1066G>C (p.Val356Leu) SNV
Germline
Chr16:2060760 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA013667 rs_587778728

8 SubmittersRCV000122203RCV000471776RCV000561439RCV001537839RCV006547618

NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) SNV
Germline
Chr16:2065519 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA015286 rs_587778729

9 SubmittersRCV000122207RCV000951521RCV001012373RCV001117452RCV003237731

NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) SNV
Germline
Chr16:2070559 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA015881 rs_397515296

11 SubmittersRCV000122208RCV000464888RCV000561143RCV001086928RCV003997361

NM_000548.5(TSC2):c.1912G>A (p.Val638Met) SNV
Germline
Chr16:2071582 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA016199 rs_587778730

7 SubmittersRCV000122210RCV000807299RCV001013672RCV003997362RCV004542921RCV006259028

NM_000548.5(TSC2):c.2768C>G (p.Ser923Cys) SNV
Germline
Chr16:2076516 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA018139 rs_587778731

7 SubmittersRCV000122215RCV000817259RCV002256079RCV003148650RCV003447498RCV003997363

NM_000548.5(TSC2):c.595G>C (p.Val199Leu) SNV
Germline
Chr16:2055515 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA022614 rs_587778733

4 SubmittersRCV000122219RCV000810100RCV006287162RCV005016422

NM_000548.5(TSC2):c.846C>A (p.Asp282Glu) SNV
Germline
Chr16:2057176 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA023019 rs_587778734

5 SubmittersRCV000122220RCV000550508RCV001017849RCV003997364

NM_000548.5(TSC2):c.3542C>T (p.Thr1181Met) SNV
Germline
Chr16:2080309 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA019264 rs_373481458

6 SubmittersRCV000122224RCV000820253RCV001020564

NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) SNV
Germline
Chr16:2083773 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA019757 rs_587778736

10 SubmittersRCV000122228RCV000644076RCV001556535RCV003298144RCV003460863RCV003997365

NM_000548.5(TSC2):c.3963G>C (p.Glu1321Asp) SNV
Germline
Chr16:2083774 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA019763 rs_587778737

7 SubmittersRCV000122230RCV000644130RCV001021539RCV003997366

NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) SNV
Germline
Chr16:2084229 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA019831 rs_148527903

14 SubmittersRCV000122231RCV000227253RCV000350281RCV000490949RCV000858996RCV004542922

NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) SNV
Germline
Chr16:2084328 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA019956 rs_587778738

10 SubmittersRCV000122232RCV000564577RCV000644340RCV004734661RCV006547622

NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr) SNV
Germline
Chr16:2084687 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA020493 rs_587778740

5 SubmittersRCV000122237RCV000706466RCV001022523RCV004804120

NM_000548.5(TSC2):c.4901G>A (p.Arg1634His) SNV
Germline
Chr16:2086783 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA021194 rs_201694466

8 SubmittersRCV000122239RCV000477100RCV000572602RCV005243120RCV006547623

NM_000368.5(TSC1):c.201A>G (p.Pro67=) SNV
Germline
Chr9:132927210 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA005771 rs_371555137

13 SubmittersRCV000125623RCV000567969RCV001082445RCV000731870RCV003997434

NM_000368.5(TSC1):c.2502+18A>C SNV
Germline
Chr9:132901571 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA006521 rs_200908079

6 SubmittersRCV000125632RCV002055588RCV003221814RCV002498608RCV004017412

NM_000548.5(TSC2):c.2742+4G>A SNV
Germline
Chr16:2076174 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA017999 rs_587781683

6 SubmittersRCV000129846RCV000473206RCV000610131RCV006547626

NM_000548.5(TSC2):c.3323C>T (p.Ala1108Val) SNV
Germline
Chr16:2079595 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA018885 rs_587781782

5 SubmittersRCV000130032RCV000836828RCV001087672RCV003997543

NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr) SNV
Germline
Chr16:2072885 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA017108 rs_574205203

6 SubmittersRCV000130092RCV000530366RCV004528853RCV006547628

NM_000368.5(TSC1):c.941C>T (p.Thr314Met) SNV
Germline
Chr9:132911541 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA008439 rs_373454700

10 SubmittersRCV000130736RCV000726223RCV000764813RCV001084392RCV003998074

NM_000548.5(TSC2):c.1785G>A (p.Gln595=) SNV
Germline
Chr16:2070524 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA015710 rs_150352976

7 SubmittersRCV000155581RCV001013173RCV001400507RCV005641515

NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) SNV
Germline
Chr9:132896322 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA007356 rs_751398082

7 SubmittersRCV000164106RCV000463228RCV003474851RCV003995315RCV006456757

NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) SNV
Germline
Chr9:132896706 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA007132 rs_142954164

7 SubmittersRCV000166118RCV000733529RCV001082367RCV006547707

NM_000368.5(TSC1):c.2922C>T (p.Leu974=) SNV
Germline
Chr9:132897237 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
TSC1-related disorder
Tuberous sclerosis syndrome
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA007094 rs_769389702

12 SubmittersRCV000163671RCV000231914RCV001165537RCV001704175RCV003945275RCV003995270RCV004782266RCV005394590

NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) SNV
Germline
Chr9:132902684 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA006280 rs_760208449

5 SubmittersRCV000164860RCV000983928RCV003995371

NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) SNV
Germline
Chr9:132903794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA005878 rs_202241429

8 SubmittersRCV000164473RCV000439211RCV001086626RCV006547702

NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) SNV
Germline
Chr9:132903802 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA005874 rs_786201465

4 SubmittersRCV000163698RCV000641974RCV004804718

NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) SNV
Germline
Chr9:132905827 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA005341 rs_786203799

4 SubmittersRCV000167260RCV001167197RCV001167198

NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) SNV
Germline
Chr9:132905893 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA005191 rs_377185303

8 SubmittersRCV000165896RCV000468971RCV001721075RCV001818385RCV006547706

NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg) SNV
Germline
Chr9:132905998 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA005092 rs_767708806

6 SubmittersRCV000163699RCV000641964RCV003995272RCV005042325

NM_000368.5(TSC1):c.379G>A (p.Val127Ile) SNV
Germline
Chr9:132923477 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA007499 rs_372215435

6 SubmittersRCV000163960RCV000241553RCV000766818RCV001079421RCV006547700

NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) SNV
Germline
Chr16:2055480 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA022534 rs_45505405

9 SubmittersRCV000163373RCV000190050RCV000765260RCV001086110RCV003995252

NM_000548.5(TSC2):c.629C>T (p.Ala210Val) SNV
Germline
Chr16:2056225 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA022710 rs_764925296

7 SubmittersRCV000167112RCV000233190RCV001721086RCV003995559

NM_000548.5(TSC2):c.944C>T (p.Ser315Leu) SNV
Germline
Chr16:2058842 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA023151 rs_202082319

6 SubmittersRCV000166873RCV000553448RCV001762388RCV003995539

NM_000548.5(TSC2):c.1095C>T (p.Ile365=) SNV
Germline
Chr16:2060789 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA013749 rs_757135168

10 SubmittersRCV000163999RCV000227075RCV001118950RCV001548088

NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) SNV
Germline
Chr16:2061995 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA014143 rs_374936223

15 SubmittersRCV000163295RCV000189884RCV000726305RCV001120921RCV001081464RCV004544488

NM_000548.5(TSC2):c.1588A>G (p.Ile530Val) SNV
Germline
Chr16:2064416 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA015168 rs_786203470

5 SubmittersRCV000166788RCV000536283RCV003995532

NM_000548.5(TSC2):c.1883G>A (p.Arg628His) SNV
Germline
Chr16:2071553 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA016151 rs_774895427

5 SubmittersRCV000165847RCV000531841RCV001548583RCV003995458

NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) SNV
Germline
Chr16:2071908 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA016553 rs_760489473

11 SubmittersRCV000163633RCV000189993RCV000230256RCV002053949RCV003995264

NM_000548.5(TSC2):c.2153G>A (p.Arg718His) SNV
Germline
Chr16:2072296 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA016838 rs_45517215

6 SubmittersRCV000166299RCV000469825RCV001589035RCV006547709

NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) SNV
Germline
Chr16:2075837 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA017691 rs_759837836

12 SubmittersRCV000164859RCV000407000RCV001086946RCV004734759RCV005434662RCV006547704

NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys) SNV
Germline
Chr16:2080302 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA019256 rs_45483391

6 SubmittersRCV000163457RCV000430228RCV001083093RCV003995258

NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) SNV
Germline
Chr16:2081761 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA019542 rs_786202178

7 SubmittersRCV000164873RCV000316816RCV001047638RCV001668323

NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu) SNV
Germline
Chr16:2084984 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA020614 rs_775919951

4 SubmittersRCV000167342RCV001230620RCV001753574

NM_000548.5(TSC2):c.5265C>T (p.Cys1755=) SNV
Germline
Chr16:2088451 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA022344 rs_141449031

8 SubmittersRCV000163649RCV000473465RCV001555340RCV004535079RCV006547698

NM_000548.5(TSC2):c.*5G>A SNV
Germline
Chr16:2088615 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA022652 rs_201342697

5 SubmittersRCV000163706RCV001547283RCV001797646RCV004535080

NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) SNV
Germline
Chr17:31233191 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
NF1-related disorder
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA191008 rs_140523180

10 SubmittersRCV000164457RCV000473108RCV000614422RCV004552890RCV004998319RCV005625346

NM_000548.5(TSC2):c.855C>T (p.Tyr285=) SNV
Germline
Chr16:2058753 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA023053 rs_794726983

5 SubmittersRCV000173708RCV000644400RCV002408753

NM_000548.5(TSC2):c.1258-10C>G SNV
Germline
Chr16:2062487 Conflicting classifications of pathogenicity not specified
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA014237 rs_794727093

4 SubmittersRCV000174493RCV000724618RCV001082397

NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) SNV
Germline
Chr9:132897582 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA006799 rs_200514807

6 SubmittersRCV000176157RCV000571983RCV001088675RCV003995681

NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) SNV
Germline
Chr9:132896452 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA007291 rs_550526986

8 SubmittersRCV000642039RCV000724617RCV003298222RCV003995684RCV004745256RCV003474931

NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn) SNV
Germline
Chr9:132896383 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA007333 rs_764140399

2 SubmittersRCV000176367RCV001852173

NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) SNV
Germline
Chr16:2084299 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA019905 rs_150999168

10 SubmittersRCV000189925RCV000724257RCV001021817RCV001082491RCV003996568RCV004537450

NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) SNV
Germline
Chr16:2086276 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA020975 rs_751305758

7 SubmittersRCV000177897RCV000223618RCV000724475RCV001081235RCV006547723

NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) SNV
Germline
Chr16:2086801 Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA021276 rs_794727602

2 SubmittersRCV000594599RCV001852204

NM_000548.5(TSC2):c.573C>G (p.Leu191=) SNV
Germline
Chr16:2055493 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA022569 rs_397515059

6 SubmittersRCV000179331RCV001085605RCV003298225RCV003996580

NM_000548.5(TSC2):c.493C>T (p.Leu165=) SNV
Germline
Chr16:2055413 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA021361 rs_758521946

9 SubmittersRCV000179332RCV000563723RCV001084292RCV003996581

NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) SNV
Germline
Chr9:132896261 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319266 rs_796053451

6 SubmittersRCV000189830RCV000697883RCV001020374RCV003996853

NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys) SNV
Germline
Chr9:132896441 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036377 rs_779599439

7 SubmittersRCV000189863RCV001019673RCV001085451RCV003996859

NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe) SNV
Germline
Chr9:132896597 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA319263 rs_747162992

4 SubmittersRCV000189826RCV001852519RCV002321766RCV003895230

NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) SNV
Germline
Chr9:132896600 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319317 rs_796053462

8 SubmittersRCV000189860RCV001079866RCV002256098RCV003996858

NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) SNV
Germline
Chr9:132896605 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035967 rs_148931779

7 SubmittersRCV000189859RCV001080753RCV001018741RCV001818461RCV005401372

NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) SNV
Germline
Chr9:132896607 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Epilepsy
Criteria Provided
Conflicting Classifications
CA035953 rs_753374839

11 SubmittersRCV000225953RCV000341814RCV001705062RCV002257479RCV003416119RCV004804807RCV005625416

NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile) SNV
Germline
Chr9:132896644 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319312 rs_796053450

6 SubmittersRCV000189858RCV000557141RCV004678635RCV006547786

NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) SNV
Germline
Chr9:132896644 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319258 rs_796053450

5 SubmittersRCV000189824RCV000803859RCV002321765RCV006547783

NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln) SNV
Germline
Chr9:132896650 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA319309 rs_796053461

8 SubmittersRCV000233178RCV000561979RCV001705063RCV003996857RCV004745259

NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) SNV
Germline
Chr9:132896735 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035493 rs_780224196

7 SubmittersRCV000570020RCV000727040RCV001323564RCV005402879

NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) SNV
Germline
Chr9:132897233 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319252 rs_796053448

7 SubmittersRCV000189822RCV000819696RCV001017516RCV003488444RCV006547782

NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) SNV
Germline
Chr9:132902621 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Ovarian cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA319304 rs_796053460

5 SubmittersRCV000189855RCV000558000RCV003153464RCV002453702

NM_000368.5(TSC1):c.2209-9C>G SNV
Germline
Chr9:132902796 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031961 rs_118203660

8 SubmittersRCV000189819RCV000233096RCV000266169RCV001705061RCV002256097RCV005402877

NM_000368.5(TSC1):c.2115G>A (p.Glu705=) SNV
Germline
Chr9:132903744 Conflicting classifications of pathogenicity not specified
Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031535 rs_142662480

9 SubmittersRCV000189818RCV000732642RCV001081924RCV002314772RCV003947587RCV004804806

NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) SNV
Germline
Chr9:132904426 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030669 rs_748901883

8 SubmittersRCV000189817RCV001083108RCV001014108RCV003996852

NM_000368.5(TSC1):c.1943T>C (p.Val648Ala) SNV
Germline
Chr9:132905635 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030214 rs_771341361

6 SubmittersRCV000782213RCV001013799RCV001082729RCV005042405RCV006547781

NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) SNV
Germline
Chr9:132905803 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029749 rs_775869914

8 SubmittersRCV000726144RCV001013102RCV001079404RCV004703452RCV006547780

NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser) SNV
Germline
Chr9:132905857 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029589 rs_548002938

9 SubmittersRCV000189813RCV000574453RCV001082340RCV005042404RCV006547779

NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln) SNV
Germline
Chr9:132906028 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029018 rs_371908551

6 SubmittersRCV000189848RCV001012122RCV001078761RCV003401036RCV006547785

NM_000368.5(TSC1):c.1332A>G (p.Ser444=) SNV
Germline
Chr9:132907302 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028083 rs_773003016

9 SubmittersRCV000189846RCV000574822RCV001087970RCV003895232RCV003996856

NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) SNV
Germline
Chr9:132911046 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA027020 rs_763915012

5 SubmittersRCV000189810RCV000225784RCV001017276RCV001355439

NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) SNV
Germline
Chr9:132911089 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA319235 rs_796053447

6 SubmittersRCV000189809RCV000228527RCV002399706RCV003996851RCV005042403

NM_000368.5(TSC1):c.1051A>G (p.Met351Val) SNV
Germline
Chr9:132911092 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319232 rs_781312535

7 SubmittersRCV000473657RCV000575230RCV001705059RCV003996850

NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) SNV
Germline
Chr9:132911536 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039888 rs_535868591

9 SubmittersRCV000189844RCV001089004RCV002257480RCV003895231RCV006547784

NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) SNV
Germline
Chr9:132912297 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319286 rs_796053456

6 SubmittersRCV000189843RCV000642034RCV002372157RCV003996855

NM_000368.5(TSC1):c.772G>A (p.Glu258Lys) SNV
Germline
Chr9:132912423 Conflicting classifications of pathogenicity Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038893 rs_118203450

8 SubmittersRCV000189841RCV000376049RCV000641992RCV002399707RCV004804808

NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) SNV
Germline
Chr9:132928784 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319269 rs_796053452

8 SubmittersRCV000189831RCV000230335RCV000575687RCV003955133RCV003996854

NM_000548.5(TSC2):c.-30+1G>C SNV
Germline
Chr16:2048066 Conflicting classifications of pathogenicity Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319562 rs_587778004

6 SubmittersRCV000190049RCV002500581RCV003485553RCV003468875RCV005361100

NM_000548.5(TSC2):c.101A>C (p.Lys34Thr) SNV
Germline
Chr16:2048716 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA027975 rs_777988634

8 SubmittersRCV000189880RCV000475609RCV001009700RCV003996860RCV004734839

NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) SNV
Germline
Chr16:2048721 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA028094 rs_757113497

6 SubmittersRCV000189881RCV000467572RCV002314773RCV006259150

NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) SNV
Germline
Chr16:2050413 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030988 rs_772617064

8 SubmittersRCV000468262RCV000575026RCV001705072RCV003996890

NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) SNV
Germline
Chr16:2050474 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036834 rs_766200310

7 SubmittersRCV000190013RCV001079014RCV002426919RCV003150973RCV006547799

NM_000548.5(TSC2):c.226C>T (p.His76Tyr) SNV
Germline
Chr16:2053342 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA038111 rs_574779350

11 SubmittersRCV000367424RCV000470663RCV000565361RCV001721240RCV004703455

NM_000548.5(TSC2):c.325G>A (p.Val109Met) SNV
Germline
Chr16:2053441 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA045030 rs_369932305

6 SubmittersRCV000189956RCV000233520RCV002321769RCV003996875

NM_000548.5(TSC2):c.339C>T (p.Gly113=) SNV
Germline
Chr16:2054298 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA046718 rs_368451664

6 SubmittersRCV000189957RCV000644068RCV002256100

NM_000548.5(TSC2):c.362C>G (p.Ala121Gly) SNV
Germline
Chr16:2054321 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047888 rs_767755750

8 SubmittersRCV000546990RCV000575342RCV002469054RCV003477648RCV003996898

NM_000548.5(TSC2):c.431A>G (p.Lys144Arg) SNV
Germline
Chr16:2054390 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA050850 rs_769286175

6 SubmittersRCV000189958RCV000229518RCV002327021RCV003996876RCV006259153

NM_000548.5(TSC2):c.577G>A (p.Glu193Lys) SNV
Germline
Chr16:2055497 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055433 rs_45517112

5 SubmittersRCV000189961RCV000219746RCV000698793RCV003996877

NM_000548.5(TSC2):c.583A>G (p.Ile195Val) SNV
Germline
Chr16:2055503 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055442 rs_148325559

11 SubmittersRCV000189962RCV000205768RCV000573793RCV002500580RCV004537593RCV005401373

NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) SNV
Germline
Chr16:2056705 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056182 rs_139060277

9 SubmittersRCV000190052RCV000227699RCV001026051RCV004537600RCV005401375

NM_000548.5(TSC2):c.718A>G (p.Ile240Val) SNV
Germline
Chr16:2056713 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA319418 rs_796053482

5 SubmittersRCV000801305RCV002372160RCV003996879RCV004567390RCV005016537

NM_000548.5(TSC2):c.782G>A (p.Arg261Gln) SNV
Germline
Chr16:2057112 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA319570 rs_45502703

8 SubmittersRCV000190055RCV000572337RCV001084043RCV003996899RCV005016545

NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe) SNV
Germline
Chr16:2060698 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA027958 rs_45517144

6 SubmittersRCV000694942RCV001009666

NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) SNV
Germline
Chr16:2060775 Conflicting classifications of pathogenicity Condition: not provided
Autism spectrum disorder
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA319427 rs_796053483

10 SubmittersRCV000189974RCV000754678RCV000812345RCV002257481RCV003462292RCV003996880RCV005016538

NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) SNV
Germline
Chr16:2060790 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA028150 rs_45517148

10 SubmittersRCV000230966RCV000568549RCV001118951RCV001721235RCV005016539

NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) SNV
Germline
Chr16:2062497 Pathogenic Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA319432 rs_796053484

5 SubmittersRCV000189977RCV001051912RCV003996881

NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) SNV
Germline
Chr16:2062546 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319435 rs_796053485

6 SubmittersRCV000189978RCV000572652RCV001085727RCV003468874RCV006547795

NM_000548.5(TSC2):c.1365C>T (p.Ser455=) SNV
Germline
Chr16:2062975 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA029711 rs_34567401

10 SubmittersRCV000227320RCV001011055RCV001721230RCV003996862RCV004539757RCV004703453

NM_000548.5(TSC2):c.1381G>A (p.Val461Met) SNV
Germline
Chr16:2062991 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319441 rs_796053486

5 SubmittersRCV000189980RCV000549657RCV003380512RCV003996883

NM_000548.5(TSC2):c.1534C>G (p.Leu512Val) SNV
Germline
Chr16:2064362 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031024 rs_772834557

6 SubmittersRCV000189982RCV001083877RCV001012067RCV005401374

NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) SNV
Germline
Chr16:2064405 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031106 rs_376573446

12 SubmittersRCV000189889RCV000564968RCV000557687RCV000768351RCV001200210RCV006547788

NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) SNV
Germline
Chr16:2064422 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA319449 rs_149222396

7 SubmittersRCV000189983RCV000802377RCV001012313RCV003996884RCV005016540

NM_000548.5(TSC2):c.1599+19G>A SNV
Germline
Chr16:2064446 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA031258 rs_777632769

3 SubmittersRCV000189890RCV001852521RCV005016534

NM_000548.5(TSC2):c.1600-14C>A SNV
Germline
Chr16:2065505 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Sarcoma
Criteria Provided
Conflicting Classifications
CA319352 rs_45517185

6 SubmittersRCV000189891RCV002054240RCV003996863RCV005892207

NM_000548.5(TSC2):c.1610G>A (p.Arg537His) SNV
Germline
Chr16:2065529 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031730 rs_372681603

6 SubmittersRCV000189985RCV001012413RCV001088401RCV005016541RCV006547796

NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) SNV
Germline
Chr16:2065580 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA032083 rs_45471596

8 SubmittersRCV000189986RCV001083566RCV002256101RCV003996885

NM_000548.5(TSC2):c.1751C>T (p.Thr584Met) SNV
Germline
Chr16:2070490 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033300 rs_751147419

7 SubmittersRCV000644256RCV001012959RCV001705065RCV003996865

NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg) SNV
Germline
Chr16:2070535 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA033543 rs_45517202

5 SubmittersRCV000189988RCV001236049RCV004948202

NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) SNV
Germline
Chr16:2071585 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034455 rs_766451267

12 SubmittersRCV000570781RCV000557012RCV001705070RCV003155114RCV003996886

NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) SNV
Germline
Chr16:2071586 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA034463 rs_753932484

7 SubmittersRCV000535602RCV000509149RCV000566813RCV001705071RCV004734842

NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) SNV
Germline
Chr16:2071909 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036218 rs_370553131

6 SubmittersRCV000189994RCV001014296RCV001083287RCV003996887

NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) SNV
Germline
Chr16:2072865 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037685 rs_767770242

7 SubmittersRCV000189995RCV000563688RCV001086435RCV004804810

NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) SNV
Germline
Chr16:2072874 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037732 rs_766442736

7 SubmittersRCV000189996RCV000563830RCV001087821RCV001117540

NM_000548.5(TSC2):c.2287C>T (p.His763Tyr) SNV
Germline
Chr16:2072915 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA038145 rs_758234726

5 SubmittersRCV000814544RCV002444770RCV003153465RCV004567388

NM_000548.5(TSC2):c.2356-15T>A SNV
Germline
Chr16:2074185 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA038667 rs_189674303

8 SubmittersRCV000189906RCV001117542RCV001797671RCV003114344

NM_000548.5(TSC2):c.2356-5T>G SNV
Germline
Chr16:2074195 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319473 rs_796053488

5 SubmittersRCV000189998RCV000823285RCV002444771RCV003996888

NM_000548.5(TSC2):c.2357G>A (p.Arg786His) SNV
Germline
Chr16:2074201 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319589 rs_796053511

5 SubmittersRCV000190071RCV000700685RCV002444772RCV006547807

NM_000548.5(TSC2):c.2416G>A (p.Val806Met) SNV
Germline
Chr16:2074260 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA319361 rs_796053473

7 SubmittersRCV000189907RCV000525436RCV001015274RCV003996866RCV003462291RCV004734841

NM_000548.5(TSC2):c.2539C>T (p.Leu847=) SNV
Germline
Chr16:2074383 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA039428 rs_377300009

12 SubmittersRCV000189908RCV000229912RCV000565055RCV001119146RCV003390918RCV004537589

NM_000548.5(TSC2):c.2639+1G>A SNV
Germline
Chr16:2075893 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA319483 rs_45517252

6 SubmittersRCV000190003RCV001797674

NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr) SNV
Germline
Chr16:2076106 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319484 rs_796053491

5 SubmittersRCV000190005RCV000644168RCV002426918RCV006547797

NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys) SNV
Germline
Chr16:2076129 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA319592 rs_796053512

6 SubmittersRCV000231440RCV001016356RCV003884383

NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) SNV
Germline
Chr16:2076140 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA041007 rs_137920189

10 SubmittersRCV000203097RCV000567626RCV001705067RCV004537590RCV006547790

NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) SNV
Germline
Chr16:2076504 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA041783 rs_780057014

7 SubmittersRCV000190007RCV001016513RCV001086210RCV003996889RCV005016542

NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly) SNV
Germline
Chr16:2079033 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA043555 rs_753730009

4 SubmittersRCV000189913RCV000807950RCV001017697

NM_000548.5(TSC2):c.2971A>G (p.Ile991Val) SNV
Germline
Chr16:2079036 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319491 rs_369524855

4 SubmittersRCV001044377RCV002433859RCV003462293RCV006547798

NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) SNV
Germline
Chr16:2079051 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043628 rs_139753238

9 SubmittersRCV000231299RCV000561234RCV001705073RCV003996891

NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) SNV
Germline
Chr16:2079289 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA319501 rs_796053492

14 SubmittersRCV000190014RCV000562972RCV000766975RCV001085820RCV003462294RCV003996892RCV004528972RCV005016543

NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) SNV
Germline
Chr16:2079324 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA319583 rs_796053509

4 SubmittersRCV000190069RCV000801616

NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg) SNV
Germline
Chr16:2079370 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA044834 rs_747910305

5 SubmittersRCV000531095RCV000765271RCV002321770RCV005411365

NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) SNV
Germline
Chr16:2079415 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319506 rs_796053493

6 SubmittersRCV000190017RCV001085830RCV001019560RCV004537596RCV006547800

NM_000548.5(TSC2):c.3326C>T (p.Pro1109Leu) SNV
Germline
Chr16:2079598 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA319368 rs_796053474

6 SubmittersRCV000189915RCV000490959RCV000546326RCV004998399RCV005016535

NM_000548.5(TSC2):c.3374G>A (p.Arg1125Gln) SNV
Germline
Chr16:2079646 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA319371 rs_796053475

5 SubmittersRCV000542085RCV001020126RCV001705069

NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro) SNV
Germline
Chr16:2080192 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA319595 rs_796053513

4 SubmittersRCV000190077RCV000644198RCV002453704

NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val) SNV
Germline
Chr16:2080195 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319512 rs_796053495

5 SubmittersRCV000468447RCV001020274RCV001721236RCV006547801

NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu) SNV
Germline
Chr16:2080299 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA319515 rs_45517297

4 SubmittersRCV000190020RCV000551233RCV001020544

NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val) SNV
Germline
Chr16:2080332 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319374 rs_796053476

5 SubmittersRCV000469044RCV001020619RCV001721231RCV006547791

NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter) SNV
Germline
Chr16:2081608 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA319518 rs_796053496

2 SubmittersRCV000190022RCV002517023

NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) SNV
Germline
Chr16:2083750 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA049654 rs_149340262

6 SubmittersRCV000535896RCV001021475RCV001705074RCV003996893

NM_000548.5(TSC2):c.4029G>C (p.Glu1343Asp) SNV
Germline
Chr16:2084251 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050218 rs_752502287

6 SubmittersRCV000189924RCV001053943RCV002372158RCV006439755

NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) SNV
Germline
Chr16:2084252 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050233 rs_397515035

10 SubmittersRCV000713931RCV001087396RCV002257482RCV003996894

NM_000548.5(TSC2):c.4067G>A (p.Gly1356Asp) SNV
Germline
Chr16:2084289 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050325 rs_747104864

7 SubmittersRCV000644243RCV001021792RCV004700576RCV003996895

NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) SNV
Germline
Chr16:2084316 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050423 rs_377123510

10 SubmittersRCV000471216RCV000567838RCV001082119RCV003479052RCV006547792

NM_000548.5(TSC2):c.4198G>A (p.Asp1400Asn) SNV
Germline
Chr16:2084420 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA319383 rs_762368225

3 SubmittersRCV000189928RCV001852522RCV003298247

NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) SNV
Germline
Chr16:2084445 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA050682 rs_202068995

12 SubmittersRCV000491452RCV000713933RCV001087398RCV003996896RCV005434690

NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln) SNV
Germline
Chr16:2084448 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050701 rs_768684515

7 SubmittersRCV000915945RCV001022088RCV001721232RCV003996869

NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) SNV
Germline
Chr16:2084534 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050835 rs_778925833

6 SubmittersRCV000190079RCV000695662RCV001022271RCV003462296RCV003996900

NM_000548.5(TSC2):c.4385C>G (p.Thr1462Ser) SNV
Germline
Chr16:2084607 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051006 rs_373018205

5 SubmittersRCV000934634RCV001022397RCV001427433RCV004804809

NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) SNV
Germline
Chr16:2084648 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA051101 rs_376946970

7 SubmittersRCV000189932RCV000218843RCV000458406RCV003996870RCV004808617

NM_000548.5(TSC2):c.4447A>G (p.Arg1483Gly) SNV
Germline
Chr16:2084669 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051170 rs_199644840

7 SubmittersRCV000527710RCV001022496RCV001721238RCV004537598RCV006547803

NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr) SNV
Germline
Chr16:2085237 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319534 rs_796053498

5 SubmittersRCV000475369RCV000574084RCV006547804

NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser) SNV
Germline
Chr16:2086259 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA319537 rs_796053499

5 SubmittersRCV000190037RCV001307603RCV004020298RCV004567392

NM_000548.5(TSC2):c.4850-3C>T SNV
Germline
Chr16:2086729 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319392 rs_397514982

3 SubmittersRCV002646640RCV004066701RCV006546057

NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) SNV
Germline
Chr16:2086782 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
not specified
Criteria Provided
Conflicting Classifications
CA053034 rs_760457821

10 SubmittersRCV000725350RCV001314556RCV002336506RCV004804811RCV005008120RCV005418006

NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) SNV
Germline
Chr16:2087871 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA053452 rs_757221445

8 SubmittersRCV000189938RCV000575063RCV001088052RCV003996871RCV005016536

NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr) SNV
Germline
Chr16:2087912 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA053573 rs_150558493

6 SubmittersRCV000190039RCV001084596RCV002336507RCV005008121RCV006554490

NM_000548.5(TSC2):c.5095G>A (p.Val1699Met) SNV
Germline
Chr16:2088074 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA053941 rs_370864445

8 SubmittersRCV000189942RCV000473026RCV000570790RCV003996872RCV004537592

NM_000548.5(TSC2):c.5120A>G (p.Asn1707Ser) SNV
Germline
Chr16:2088099 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA054000 rs_772439098

7 SubmittersRCV000462184RCV001721233RCV002336505RCV003996873RCV004539758

NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) SNV
Germline
Chr16:2088121 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA054054 rs_147147042

15 SubmittersRCV000189947RCV000232905RCV000572198RCV001117884RCV003237758RCV004539759

NM_000548.5(TSC2):c.5186G>A (p.Arg1729His) SNV
Germline
Chr16:2088252 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054348 rs_760395277

8 SubmittersRCV000230273RCV001023681RCV001721239RCV004539760RCV006547808

NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) SNV
Germline
Chr16:2088318 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054581 rs_373365980

10 SubmittersRCV000190042RCV001084515RCV002257483RCV003153466RCV004537599RCV006547805

NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser) SNV
Germline
Chr16:2088447 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054821 rs_762320484

6 SubmittersRCV000190043RCV000468026RCV001023818RCV004804812

NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) SNV
Germline
Chr16:2088452 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA054884 rs_375075952

11 SubmittersRCV000561869RCV000713943RCV001083713RCV003996897RCV004734843RCV005016544

NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) SNV
Germline
Chr16:2088533 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055186 rs_777166275

6 SubmittersRCV000190045RCV001084324RCV002345684RCV006554491

NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu) SNV
Germline
Chr16:2088575 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA319402 rs_796053479

6 SubmittersRCV000189951RCV000696799RCV002345683RCV004567389RCV006554489

NM_000368.5(TSC1):c.1794C>T (p.Ser598=) SNV
Germline
Chr9:132905784 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA348664 rs_766438395

11 SubmittersRCV000828746RCV001087929RCV001002398RCV001013195RCV003897453RCV003997652RCV005042448

NM_000548.5(TSC2):c.2838-6C>T SNV
Germline
Chr16:2077592 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042365 rs_528706539

5 SubmittersRCV000205443RCV000372271

NM_000548.5(TSC2):c.4617A>G (p.Ser1539=) SNV
Germline
Chr16:2085277 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051956 rs_201038907

7 SubmittersRCV000205870RCV001022787RCV003997655

NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) SNV
Germline
Chr16:2071911 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA036245 rs_201769220

9 SubmittersRCV000211466RCV000542869RCV001580472RCV002415885

NM_000548.5(TSC2):c.3002G>A (p.Gly1001Glu) SNV
Germline
Chr16:2079067 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043736 rs_368878445

7 SubmittersRCV000218870RCV000477004RCV000574771RCV003153493RCV006547835

NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) SNV
Germline
Chr9:132896434 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10578822 rs_876660132

6 SubmittersRCV000213461RCV000799771RCV001562491RCV004804915

NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) SNV
Germline
Chr9:132911085 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10578830 rs_876660024

5 SubmittersRCV000217823RCV000817344RCV003998005

NM_000368.5(TSC1):c.932C>G (p.Pro311Arg) SNV
Germline
Chr9:132911550 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039782 rs_776158460

7 SubmittersRCV000221166RCV000966584RCV003417788RCV003997921

NM_000368.5(TSC1):c.287T>C (p.Val96Ala) SNV
Germline
Chr9:132925663 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA034878 rs_370243092

3 SubmittersRCV000220036RCV001041403

NM_000548.5(TSC2):c.17G>A (p.Ser6Asn) SNV
Germline
Chr16:2048632 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033570 rs_758239066

6 SubmittersRCV000213113RCV000537615RCV006547836

NM_000548.5(TSC2):c.849-4T>C SNV
Germline
Chr16:2058743 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056565 rs_752614339

7 SubmittersRCV000221547RCV000644217RCV004532807RCV003998594

NM_000548.5(TSC2):c.1367A>G (p.Glu456Gly) SNV
Germline
Chr16:2062977 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10579874 rs_876659386

4 SubmittersRCV000213492RCV000473388RCV004804888

NM_000548.5(TSC2):c.2038C>T (p.Arg680Trp) SNV
Germline
Chr16:2071875 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10579879 rs_876658578

6 SubmittersRCV000218035RCV000644083RCV003225044RCV003997840

NM_000548.5(TSC2):c.2050G>A (p.Val684Met) SNV
Germline
Chr16:2071887 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Dilated cardiomyopathy 1D
Criteria Provided
Conflicting Classifications
CA036058 rs_779275341

6 SubmittersRCV000214376RCV000482513RCV001337723RCV003997895RCV005863056

NM_000548.5(TSC2):c.2098-5C>G SNV
Germline
Chr16:2072236 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036619 rs_369072310

7 SubmittersRCV000213658RCV000828151RCV001089356RCV003998018

NM_000548.5(TSC2):c.2098-3C>T SNV
Germline
Chr16:2072238 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA10579880 rs_876660489

2 SubmittersRCV000218505RCV001854696

NM_000548.5(TSC2):c.2180C>T (p.Pro727Leu) SNV
Germline
Chr16:2072323 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA036994 rs_767086409

3 SubmittersRCV000223317RCV001216217

NM_000548.5(TSC2):c.2365G>A (p.Val789Ile) SNV
Germline
Chr16:2074209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA038777 rs_779472379

9 SubmittersRCV000215219RCV000458155RCV001119143RCV003153501

NM_000548.5(TSC2):c.3281C>G (p.Ser1094Trp) SNV
Germline
Chr16:2079425 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA045126 rs_397514887

6 SubmittersRCV000221766RCV001341323RCV002251447RCV006547846RCV005016606

NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu) SNV
Germline
Chr16:2083792 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10579897 rs_876659087

4 SubmittersRCV000216974RCV000644390RCV006547841

NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) SNV
Germline
Chr16:2084319 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA050437 rs_755461310

6 SubmittersRCV000219391RCV000296255RCV000473048

NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) SNV
Germline
Chr16:2084359 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050539 rs_769653533

8 SubmittersRCV000216161RCV000423949RCV000551307RCV001117775

NM_000548.5(TSC2):c.5258G>A (p.Arg1753Gln) SNV
Germline
Chr16:2088324 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054609 rs_749487441

4 SubmittersRCV000221971RCV000799356RCV003998556

NM_000368.5(TSC1):c.3426C>T (p.Pro1142=) SNV
Germline
Chr9:132896304 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA036933 rs_758286878

5 SubmittersRCV000231359RCV002256133RCV006259313

NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) SNV
Germline
Chr9:132896314 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10582619 rs_764018144

6 SubmittersRCV000228446RCV001020245RCV003998779

NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn) SNV
Germline
Chr9:132896605 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10582622 rs_148931779

6 SubmittersRCV000229859RCV001589171RCV002321855RCV003390983RCV006547858

NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val) SNV
Germline
Chr9:132896725 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035584 rs_202121327

8 SubmittersRCV000229256RCV000563268RCV001169542RCV001568881RCV003998777

NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) SNV
Germline
Chr9:132897191 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035148 rs_200398750

8 SubmittersRCV000226388RCV000573300RCV001169544RCV001536549RCV003998776

NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) SNV
Germline
Chr9:132901668 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA032629 rs_756514375

9 SubmittersRCV000233834RCV001015473RCV001545419RCV002500758RCV003947749RCV006547857

NM_000368.5(TSC1):c.2195A>G (p.His732Arg) SNV
Germline
Chr9:132903664 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10582624 rs_878853964

5 SubmittersRCV000229210RCV001014736RCV004804948

NM_000368.5(TSC1):c.1998-1G>T SNV
Germline
Chr9:132904455 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10582626 rs_118203614

2 SubmittersRCV000228255RCV005502770

NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) SNV
Germline
Chr9:132907358 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027960 rs_765695557

10 SubmittersRCV000407254RCV000726384RCV001010703RCV001081666RCV006547853

NM_000368.5(TSC1):c.1257C>G (p.Pro419=) SNV
Germline
Chr9:132910577 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027496 rs_369642207

10 SubmittersRCV000233351RCV000565586RCV000606055RCV002503890RCV003430779RCV003998770

NM_000368.5(TSC1):c.1256C>A (p.Pro419His) SNV
Germline
Chr9:132910578 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10582630 rs_878853959

7 SubmittersRCV000229298RCV001010360RCV001813773RCV003469148RCV003998769

NM_000368.5(TSC1):c.1105C>A (p.Leu369Met) SNV
Germline
Chr9:132911038 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10582631 rs_118203496

3 SubmittersRCV000228703RCV003165601RCV004998511

NM_000368.5(TSC1):c.850C>T (p.Arg284Cys) SNV
Germline
Chr9:132912345 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039166 rs_140544652

8 SubmittersRCV000231351RCV001017933RCV001575957RCV003407768RCV006547864

NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) SNV
Germline
Chr9:132912376 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA039098 rs_148756522

7 SubmittersRCV000227461RCV000270939RCV000566627RCV003998781RCV006259314

NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) SNV
Germline
Chr9:132912386 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10582634 rs_878853968

8 SubmittersRCV000230751RCV001027171RCV003237786RCV003475059RCV003998780

NM_000368.5(TSC1):c.479G>A (p.Arg160His) SNV
Germline
Chr9:132923377 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037559 rs_749979841

9 SubmittersRCV000361865RCV001084683RCV001023070RCV003153524RCV006547859

NM_000548.5(TSC2):c.148A>G (p.Met50Val) SNV
Germline
Chr16:2050409 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hypertrophic cardiomyopathy 7
Criteria Provided
Conflicting Classifications
CA030828 rs_140618379

10 SubmittersRCV000243799RCV000726243RCV001011846RCV001086583RCV003998803RCV005863060

NM_000548.5(TSC2):c.566G>A (p.Cys189Tyr) SNV
Germline
Chr16:2055486 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055403 rs_764218079

4 SubmittersRCV000227485RCV001024387RCV006547886

NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) SNV
Germline
Chr16:2056228 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583283 rs_878854120

5 SubmittersRCV000230979RCV001025142RCV003469154RCV003998842

NM_000548.5(TSC2):c.775-5C>T SNV
Germline
Chr16:2057100 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA10583285 rs_181827303

8 SubmittersRCV000232338RCV001026786RCV001086775RCV001117342RCV004532856

NM_000548.5(TSC2):c.833A>G (p.His278Arg) SNV
Germline
Chr16:2057163 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583286 rs_397515266

7 SubmittersRCV000231955RCV001534673RCV002256137RCV003998843

NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) SNV
Germline
Chr16:2058759 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056597 rs_192567788

10 SubmittersRCV000231494RCV000608375RCV001018094RCV002500763RCV004532858RCV006547888

NM_000548.5(TSC2):c.921C>G (p.His307Gln) SNV
Germline
Chr16:2058819 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
not specified
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583287 rs_878854121

10 SubmittersRCV000226468RCV001550647RCV002372261RCV003463661RCV003317165RCV004532859RCV003998844

NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) SNV
Germline
Chr16:2058827 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583288 rs_878854122

5 SubmittersRCV000229314RCV002372262RCV003237787RCV003998845

NM_000548.5(TSC2):c.941A>G (p.Asn314Ser) SNV
Germline
Chr16:2058839 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583289 rs_878854123

3 SubmittersRCV000233295RCV002257539

NM_000548.5(TSC2):c.947C>A (p.Pro316Gln) SNV
Germline
Chr16:2058845 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056703 rs_751490043

6 SubmittersRCV000226007RCV001019379RCV001770191RCV003998846

NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln) SNV
Germline
Chr16:2061964 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA028805 rs_765622787

5 SubmittersRCV000226213RCV000568157RCV005016622

NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) SNV
Germline
Chr16:2062983 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583294 rs_878854077

8 SubmittersRCV000231211RCV000765262RCV001011245RCV001589172RCV003998801

NM_000548.5(TSC2):c.1599+10G>A SNV
Germline
Chr16:2064437 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA031188 rs_376692777

9 SubmittersRCV000225781RCV000435819RCV001117451RCV002257536RCV004541373

NM_000548.5(TSC2):c.1600-10C>T SNV
Germline
Chr16:2065509 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
TSC2-related disorder
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA031489 rs_768188836

9 SubmittersRCV000228846RCV000609241RCV003998804RCV004734880RCV004017530

NM_000548.5(TSC2):c.1613C>T (p.Ser538Phe) SNV
Germline
Chr16:2065532 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA10583296 rs_201334685

5 SubmittersRCV000226536RCV002282073RCV002399815RCV003998805RCV005016623

NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro) SNV
Germline
Chr16:2071510 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA10583299 rs_397515199

1 SubmittersRCV000227968

NM_000548.5(TSC2):c.1979G>A (p.Ser660Asn) SNV
Germline
Chr16:2071816 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035397 rs_754504918

5 SubmittersRCV000228024RCV000732670RCV002417999RCV003998806

NM_000548.5(TSC2):c.2023G>A (p.Ala675Thr) SNV
Germline
Chr16:2071860 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Ovarian cancer
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583300 rs_764840082

3 SubmittersRCV000228760RCV003153525RCV003165605

NM_000548.5(TSC2):c.2035G>A (p.Val679Met) SNV
Germline
Chr16:2071872 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA035939 rs_746315218

10 SubmittersRCV000231534RCV000571411RCV000605322RCV002478840RCV003477796RCV003998807RCV004532842

NM_000548.5(TSC2):c.2047T>C (p.Ser683Pro) SNV
Germline
Chr16:2071884 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10583302 rs_878854080

7 SubmittersRCV000232288RCV001014180RCV003998809RCV003311720

NM_000548.5(TSC2):c.2098-5C>T SNV
Germline
Chr16:2072236 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA036644 rs_369072310

6 SubmittersRCV000232656RCV000564614RCV000616624

NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) SNV
Germline
Chr16:2072310 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583305 rs_764725850

9 SubmittersRCV000564827RCV000596298RCV001084101RCV003998811

NM_000548.5(TSC2):c.2167A>T (p.Ile723Phe) SNV
Germline
Chr16:2072310 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583306 rs_764725850

2 SubmittersRCV000227175RCV002429100

NM_000548.5(TSC2):c.2273C>G (p.Ser758Cys) SNV
Germline
Chr16:2072901 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583307 rs_45517223

7 SubmittersRCV000230681RCV002261015RCV002315685RCV003998813

NM_000548.5(TSC2):c.2358C>T (p.Arg786=) SNV
Germline
Chr16:2074202 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA038732 rs_372834284

10 SubmittersRCV000234151RCV001015280RCV001117543RCV001697299

NM_000548.5(TSC2):c.2520C>T (p.Ala840=) SNV
Germline
Chr16:2074364 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA039335 rs_147683438

8 SubmittersRCV000233311RCV001015807RCV001119145RCV004532845

NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) SNV
Germline
Chr16:2074365 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA10583310 rs_549612492

9 SubmittersRCV000227059RCV000277301RCV002450674RCV004532846

NM_000548.5(TSC2):c.2570A>G (p.Tyr857Cys) SNV
Germline
Chr16:2075823 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583311 rs_878854084

4 SubmittersRCV000230556RCV001091442RCV002429101

NM_000548.5(TSC2):c.2576A>C (p.Asn859Thr) SNV
Germline
Chr16:2075829 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583312 rs_878854085

3 SubmittersRCV000234558RCV002450675RCV006547870

NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp) SNV
Germline
Chr16:2076569 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583315 rs_878854087

5 SubmittersRCV000232107RCV000413302RCV002433957

NM_000548.5(TSC2):c.3028C>G (p.Gln1010Glu) SNV
Germline
Chr16:2079093 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044006 rs_45514100

7 SubmittersRCV000230846RCV001018163RCV001551091RCV003998818

NM_000548.5(TSC2):c.3054C>T (p.Leu1018=) SNV
Germline
Chr16:2079119 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044097 rs_762570079

6 SubmittersRCV000230537RCV001311414RCV002444887RCV004804949

NM_000548.5(TSC2):c.3102C>T (p.Val1034=) SNV
Germline
Chr16:2079167 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044239 rs_562998574

9 SubmittersRCV000232349RCV001540412RCV002321857RCV003998820

NM_000548.5(TSC2):c.3192C>A (p.Asn1064Lys) SNV
Germline
Chr16:2079336 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044699 rs_201670791

9 SubmittersRCV000734482RCV001083071RCV002258838RCV003998821

NM_000548.5(TSC2):c.3217G>A (p.Val1073Met) SNV
Germline
Chr16:2079361 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA044793 rs_749192298

5 SubmittersRCV000226848RCV001019293RCV003480561

NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) SNV
Germline
Chr16:2079420 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA045093 rs_368923127

8 SubmittersRCV000229216RCV000561454RCV001116223RCV001550939RCV004725103

NM_000548.5(TSC2):c.3347C>G (p.Ala1116Gly) SNV
Germline
Chr16:2079619 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583319 rs_878854092

4 SubmittersRCV000226898RCV002321858RCV004760457RCV006547873

NM_000548.5(TSC2):c.3611-2A>G SNV
Germline
Chr16:2081593 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA10583321 rs_397515169

1 SubmittersRCV000225986

NM_000548.5(TSC2):c.3834G>C (p.Leu1278=) SNV
Germline
Chr16:2082455 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583324 rs_766029525

3 SubmittersRCV001424184RCV002354642RCV006547875

NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) SNV
Germline
Chr16:2083730 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA049623 rs_62642481

9 SubmittersRCV000325835RCV000567501RCV000726912RCV001079391RCV004532850

NM_000548.5(TSC2):c.4051G>A (p.Glu1351Lys) SNV
Germline
Chr16:2084273 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583329 rs_878854101

3 SubmittersRCV000230897RCV003165606RCV003998826

NM_000548.5(TSC2):c.4070T>A (p.Ile1357Asn) SNV
Germline
Chr16:2084292 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583331 rs_878854103

2 SubmittersRCV000227467RCV003165607

NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) SNV
Germline
Chr16:2084294 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Neurodevelopmental delay
Seizure
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA10583332 rs_878854104

8 SubmittersRCV000230305RCV002243904RCV002321860RCV003463659RCV004725104RCV005016626

NM_000548.5(TSC2):c.4168G>A (p.Glu1390Lys) SNV
Germline
Chr16:2084390 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA050575 rs_397515033

2 SubmittersRCV000234433RCV002327110

NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) SNV
Germline
Chr16:2084568 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA050898 rs_759004251

8 SubmittersRCV000232439RCV000562405RCV000502912RCV003998827RCV004532852

NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) SNV
Germline
Chr16:2084574 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050956 rs_142848358

8 SubmittersRCV000443899RCV001022342RCV001082242RCV004734881RCV006547878

NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) SNV
Germline
Chr16:2084619 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051016 rs_45517341

7 SubmittersRCV000226937RCV000422566RCV002315686RCV003390985RCV003998828

NM_000548.5(TSC2):c.4493+7C>A SNV
Germline
Chr16:2084722 Conflicting classifications of pathogenicity not specified
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051366 rs_199943270

11 SubmittersRCV000249888RCV000727250RCV001082080RCV005361394

NM_000548.5(TSC2):c.4569+6C>T SNV
Germline
Chr16:2085032 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051679 rs_756614796

6 SubmittersRCV000231035RCV001636732RCV002257537RCV006547881

NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) SNV
Germline
Chr16:2085293 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583336 rs_878854109

4 SubmittersRCV000233971RCV003165608RCV003463660RCV003998830

NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) SNV
Germline/somatic
Chr16:2085299 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA051988 rs_745895675

9 SubmittersRCV000228875RCV000477702RCV000564060RCV003235153RCV003998831RCV004734882

NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) SNV
Germline
Chr16:2086325 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA052464 rs_772687631

10 SubmittersRCV000415747RCV000570208RCV001088185RCV004532853RCV003998833

NM_000548.5(TSC2):c.4822T>A (p.Tyr1608Asn) SNV
Germline
Chr16:2086352 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10583339 rs_878854111

6 SubmittersRCV000232722RCV002338708RCV004567721RCV006259316

NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile) SNV
Germline
Chr16:2086734 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA052943 rs_377129517

7 SubmittersRCV000229416RCV002315687RCV004584636RCV003998834

NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) SNV
Germline
Chr16:2086745 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA052955 rs_142085017

8 SubmittersRCV000233324RCV000294910RCV001722216RCV002338709

NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr) SNV
Germline
Chr16:2086852 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10583340 rs_878854112

6 SubmittersRCV000228578RCV000761036RCV001023346

NM_000548.5(TSC2):c.5209C>T (p.Pro1737Ser) SNV
Germline
Chr16:2088275 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054437 rs_780112037

8 SubmittersRCV000226974RCV000564490RCV001675679RCV003998837

NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) SNV
Germline
Chr16:2088504 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583346 rs_45517418

8 SubmittersRCV000234553RCV000497390RCV002347870RCV004804952

NM_000548.5(TSC2):c.5319T>C (p.His1773=) SNV
Germline
Chr16:2088505 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055081 rs_536518032

7 SubmittersRCV000228307RCV000248030RCV001023913RCV001722218RCV005401393

NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) SNV
Germline
Chr16:2088528 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10583347 rs_878854119

5 SubmittersRCV000520770RCV001086979RCV002347871RCV003998839

NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) SNV
Germline
Chr9:132905704 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10587021 rs_886038287

6 SubmittersRCV000246586RCV000475779RCV001658164RCV002411112

NM_000548.5(TSC2):c.226-13C>T SNV
Germline
Chr16:2053329 Conflicting classifications of pathogenicity not specified
Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10587221 rs_886038353

7 SubmittersRCV000249272RCV001711658RCV001797698RCV002258865RCV006547922

NM_000548.5(TSC2):c.849-6T>G SNV
Germline
Chr16:2058741 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA10587222 rs_886038358

3 SubmittersRCV000245598RCV001049053

NM_000548.5(TSC2):c.1791C>G (p.His597Gln) SNV
Germline
Chr16:2070530 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA10587224 rs_886038350

2 SubmittersRCV000245013RCV003626612

NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) SNV
Germline
Chr9:132900747 Pathogenic Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10588469 rs_886039662

3 SubmittersRCV000255336RCV001859489RCV002429196

NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) SNV
Germline
Chr16:2086277 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10588598 rs_886039446

4 SubmittersRCV000256049RCV000707658RCV002338812

NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) SNV
Germline
Chr9:132905591 Pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10603105 rs_886041538

3 SubmittersRCV000379901RCV000557618

NM_000368.5(TSC1):c.738-2A>T SNV
Germline
Chr9:132912459 Pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10603111 rs_118203440

4 SubmittersRCV000309855RCV000804352

NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) SNV
Germline
Chr16:2061946 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA10603287 rs_773920155

3 SubmittersRCV000265342RCV000609232

NM_000548.5(TSC2):c.2640-2A>G SNV
Germline
Chr16:2076066 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA10603300 rs_137854380

5 SubmittersRCV000275327RCV001855061RCV002487175

NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) SNV
Germline
Chr16:2084405 Pathogenic Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10603365 rs_886041772

6 SubmittersRCV000267161RCV001042530RCV002288954RCV005865289

NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter) SNV
Germline
Chr16:2071599 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA10603513 rs_368710573

3 SubmittersRCV000269157RCV001204030

NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) SNV
Germline
Chr16:2085254 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA10603520 rs_886041919

3 SubmittersRCV000403179RCV000550192

NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) SNV
Germline
Chr16:2079638 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046154 rs_778352969

9 SubmittersRCV000724868RCV001020105RCV001081872RCV004703570RCV006547943

NM_000548.5(TSC2):c.849-8A>G SNV
Germline
Chr16:2058739 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056570 rs_765336852

10 SubmittersRCV000372838RCV001079726RCV001117344

NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) SNV
Germline
Chr16:2072922 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA10603864 rs_886042145

7 SubmittersRCV000515105RCV000564756RCV001086437

NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) SNV
Germline
Chr16:2081752 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048352 rs_201599540

10 SubmittersRCV000563343RCV000724930RCV001082523RCV004703571RCV006547944

NM_000548.5(TSC2):c.3885C>T (p.Asp1295=) SNV
Germline
Chr16:2083696 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA049473 rs_766771526

5 SubmittersRCV000390278RCV001087065RCV002356372

NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) SNV
Germline
Chr16:2058791 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA056651 rs_747310967

9 SubmittersRCV000394048RCV000570041RCV001089419

NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) SNV
Germline
Chr16:2087874 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA053466 rs_551938797

8 SubmittersRCV000273962RCV001088051RCV002338841RCV003995772

NM_000548.5(TSC2):c.1600-9T>C SNV
Germline
Chr16:2065510 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA10605312 rs_886043268

6 SubmittersRCV003995776RCV000725753RCV001088831

NM_000548.5(TSC2):c.1818C>T (p.Ile606=) SNV
Germline
Chr16:2070557 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033655 rs_547389841

8 SubmittersRCV000318008RCV001080275RCV002257626RCV003995778

NM_000548.5(TSC2):c.126G>A (p.Ala42=) SNV
Germline
Chr16:2048741 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA10605643 rs_886043548

6 SubmittersRCV000374977RCV000562725RCV001083832RCV006547950

NM_000368.5(TSC1):c.1038T>C (p.Leu346=) SNV
Germline
Chr9:132911105 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA026857 rs_753360364

5 SubmittersRCV000309673RCV001017108RCV001084078

NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) SNV
Germline
Chr9:132911535 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039900 rs_375956049

9 SubmittersRCV000366220RCV001085318RCV002446526RCV003995780

NM_000548.5(TSC2):c.1134G>A (p.Pro378=) SNV
Germline
Chr16:2061885 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA028565 rs_754343186

8 SubmittersRCV000310144RCV001079274RCV002321961RCV003995781RCV004543106

NM_000548.5(TSC2):c.354C>G (p.Val118=) SNV
Germline
Chr16:2054313 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047411 rs_762228318

8 SubmittersRCV000338308RCV001020576RCV001089150RCV004537603RCV003995790

NM_000368.5(TSC1):c.*3830C>T SNV
Germline
Chr9:132892405 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10626655 rs_544931538

2 SubmittersRCV000268488RCV000363193RCV002263660

NM_000368.5(TSC1):c.*2638C>T SNV
Germline
Chr9:132893597 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10626691 rs_373845353

2 SubmittersRCV000279855RCV000352250RCV003430959

NM_000368.5(TSC1):c.*279T>G SNV
Germline
Chr9:132895956 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10629353 rs_554637460

2 SubmittersRCV000306295RCV000393191RCV003430961

NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) SNV
Germline
Chr9:132905833 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10629362 rs_886063623

7 SubmittersRCV000267953RCV000546659RCV001810867RCV002402089

NM_000368.5(TSC1):c.2556G>C (p.Leu852=) SNV
Germline
Chr9:132900784 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033432 rs_770381040

7 SubmittersRCV000394856RCV000530667RCV000828747RCV001015949RCV005401423

NM_000368.5(TSC1):c.*2904G>T SNV
Germline
Chr9:132893331 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10632969 rs_559978998

2 SubmittersRCV000274280RCV000371139RCV002263661

NM_000368.5(TSC1):c.*295C>A SNV
Germline
Chr9:132895940 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633024 rs_113549339

2 SubmittersRCV000337514RCV000387578RCV002263662

NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) SNV
Germline
Chr9:132897194 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA035133 rs_537585211

9 SubmittersRCV000300433RCV000868465RCV001017692RCV001584094RCV003392219

NM_000368.5(TSC1):c.2209-3T>C SNV
Germline
Chr9:132902790 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA031902 rs_368309229

10 SubmittersRCV000357586RCV000467930RCV001014788RCV001697785RCV005401424RCV005434885

NM_000548.5(TSC2):c.849-13G>A SNV
Germline
Chr16:2058734 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA10637322 rs_886051787

5 SubmittersRCV000356020RCV001545007RCV001797706

NM_000548.5(TSC2):c.1362-9G>A SNV
Germline
Chr16:2062963 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA029666 rs_763842281

5 SubmittersRCV000385179RCV000469906RCV002255363

NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) SNV
Germline
Chr16:2072940 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10637328 rs_886051790

5 SubmittersRCV000309089RCV000644137RCV002446569

NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) SNV
Germline
Chr16:2080259 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA047189 rs_769562717

10 SubmittersRCV000404497RCV000419952RCV000868053RCV002257639RCV004544572

NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) SNV
Germline
Chr16:2081717 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA048198 rs_777489742

7 SubmittersRCV000356278RCV000470026RCV001020999RCV004999309

NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) SNV
Germline
Chr16:2086364 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10637331 rs_886051795

7 SubmittersRCV000330059RCV000415620RCV002338901

NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) SNV
Germline
Chr16:2088487 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA10637336 rs_886051798

6 SubmittersRCV000285039RCV000569960RCV000919016

NM_000548.5(TSC2):c.226-4A>G SNV
Germline
Chr16:2053338 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10643142 rs_886051786

3 SubmittersRCV000333855RCV002520992RCV004948260

NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) SNV
Germline
Chr16:2070555 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA033640 rs_371074761

10 SubmittersRCV000302466RCV000518552RCV000555395RCV000562015RCV001545749

NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) SNV
Germline
Chr16:2084508 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA050774 rs_757579310

7 SubmittersRCV000357832RCV000575927RCV000461781RCV001548444

NM_000548.5(TSC2):c.739A>G (p.Ile247Val) SNV
Germline
Chr16:2056734 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA056277 rs_774526017

6 SubmittersRCV000405414RCV000433208RCV000465522RCV002379195

NM_000548.5(TSC2):c.1257+8C>A SNV
Germline
Chr16:2062016 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA028945 rs_767392684

6 SubmittersRCV000266941RCV000432687RCV000456424RCV006259380

NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) SNV
Germline
Chr16:2074216 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA038816 rs_758961134

8 SubmittersRCV000307485RCV000687605RCV002450875RCV002487404RCV003469253RCV004734976

NM_000548.5(TSC2):c.3210G>A (p.Thr1070=) SNV
Germline
Chr16:2079354 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA044765 rs_539927192

6 SubmittersRCV000291968RCV000460916RCV001019265

NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) SNV
Germline
Chr16:2088494 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA055015 rs_761181064

11 SubmittersRCV000340010RCV000457441RCV001545216RCV002298569RCV002255364RCV004537798

NM_000548.5(TSC2):c.258G>C (p.Ala86=) SNV
Germline
Chr16:2053374 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA10648011 rs_397514912

6 SubmittersRCV000375405RCV000870004RCV001016034RCV004537796

NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) SNV
Germline
Chr16:2065541 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA031797 rs_752953762

8 SubmittersRCV000298128RCV000461333RCV001012444RCV000765263RCV003482249

NM_000548.5(TSC2):c.2355+8G>A SNV
Germline
Chr16:2072991 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA038645 rs_199558375

5 SubmittersRCV000268704RCV000437689RCV001432749

NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) SNV
Germline
Chr16:2076582 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10648020 rs_886051791

6 SubmittersRCV000319884RCV000686655RCV001551212RCV002436165

NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) SNV
Germline
Chr16:2079340 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10648022 rs_886051793

5 SubmittersRCV000402137RCV000698685RCV003298377

NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) SNV
Germline
Chr16:2086770 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA10648023 rs_886051796

7 SubmittersRCV000371761RCV001079540RCV000839227RCV001023201RCV004537797

NM_000368.5(TSC1):c.1998-2A>G SNV
Germline
Chr9:132904456 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16042671 rs_1057518217

3 SubmittersRCV000413689RCV003323527RCV003505107

NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg) SNV
Germline
Chr16:2080221 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA046905 rs_772215032

2 SubmittersRCV000413038RCV003512037

NM_000548.5(TSC2):c.4493+1G>A SNV
Germline
Chr16:2084716 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA16042990 rs_1057518230

4 SubmittersRCV000412742RCV001797714

NM_000548.5(TSC2):c.5234G>A (p.Arg1745His) SNV
Germline
Chr16:2088300 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054529 rs_766093661

7 SubmittersRCV000689057RCV001023775RCV001705542RCV005401429

NM_000548.5(TSC2):c.5260-1G>C SNV
Germline
Chr16:2088445 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16043000 rs_1057518103

10 SubmittersRCV000413128RCV000540578RCV002338971RCV003463819RCV003995917RCV005018708

NM_000548.5(TSC2):c.886G>A (p.Val296Met) SNV
Germline
Chr16:2058784 Conflicting classifications of pathogenicity Cortical tubers
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16043501 rs_747237113

6 SubmittersRCV000415290RCV000466469RCV001197195RCV002285328RCV002374622RCV006549990

NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) SNV
Germline
Chr16:2074200 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038725 rs_767252128

6 SubmittersRCV000415953RCV001079272RCV001015130

NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter) SNV
Germline
Chr9:132902727 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA16044045 rs_1057519319

1 SubmittersRCV000416374

NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) SNV
Germline
Chr9:132905989 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Malignant tumor of breast
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029137 rs_368481360

10 SubmittersRCV000437432RCV000565665RCV000606212RCV001085125RCV001167779RCV001269495RCV003950339RCV006549993

NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter) SNV
Germline
Chr9:132897595 Pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16605392 rs_1057520444

2 SubmittersRCV000425755RCV003505110

NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) SNV
Germline
Chr9:132896654 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA035755 rs_533565295

7 SubmittersRCV000424313RCV000556341RCV001018495RCV003996015RCV004745375

NM_000368.5(TSC1):c.2311A>G (p.Met771Val) SNV
Germline
Chr9:132902685 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16605547 rs_1057522203

3 SubmittersRCV000424798RCV001861557RCV002256231

NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) SNV
Germline
Chr9:132905767 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16605641 rs_1057522817

7 SubmittersRCV000436287RCV000548490RCV002411368RCV002481320RCV004567920RCV004000473

NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) SNV
Germline
Chr9:132910656 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16605642 rs_201452238

9 SubmittersRCV000465751RCV000576108RCV001079535RCV002481304RCV003996037

NM_000368.5(TSC1):c.738-10C>A SNV
Germline
Chr9:132912467 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038740 rs_768158324

6 SubmittersRCV000473132RCV001169729RCV001703507RCV002257668RCV006550000

NM_000368.5(TSC1):c.110G>A (p.Arg37His) SNV
Germline
Chr9:132927301 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027051 rs_750441497

9 SubmittersRCV000491924RCV000468501RCV001703752RCV003942369RCV004000387

NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg) SNV
Germline
Chr9:132897214 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16606315 rs_1057520508

3 SubmittersRCV000428530RCV001851042RCV004678698

NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) SNV
Germline
Chr9:132910671 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA027202 rs_377598226

11 SubmittersRCV000567359RCV000734481RCV001083120RCV003995989RCV003902488

NM_000368.5(TSC1):c.541C>T (p.His181Tyr) SNV
Germline
Chr9:132921941 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16606318 rs_1057524690

6 SubmittersRCV000427937RCV001024073RCV001047121RCV004567926

NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) SNV
Germline
Chr9:132927244 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029375 rs_750512029

5 SubmittersRCV000444035RCV000564089RCV001088285RCV004000499

NM_000548.5(TSC2):c.759C>T (p.Cys253=) SNV
Germline
Chr16:2056754 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA056333 rs_45517125

11 SubmittersRCV000467398RCV001026603RCV001088133RCV004000515RCV004735523

NM_000548.5(TSC2):c.1840-4A>G SNV
Germline
Chr16:2071506 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16606928 rs_1057523736

7 SubmittersRCV000427325RCV001463300RCV002063530RCV004000537RCV005512735

NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) SNV
Germline
Chr16:2071559 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA16606929 rs_1057520642

6 SubmittersRCV000444052RCV000546851RCV000767144RCV002411311RCV005018723

NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg) SNV
Germline
Chr16:2071891 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16606930 rs_959165669

4 SubmittersRCV000423620RCV000558616RCV003298436

NM_000548.5(TSC2):c.2528T>C (p.Leu843Pro) SNV
Germline
Chr16:2074372 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA16606932 rs_1057522911

2 SubmittersRCV000433607RCV003512044

NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) SNV
Germline
Chr16:2079165 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044207 rs_146745242

9 SubmittersRCV000468896RCV000571036RCV001698259RCV005402917

NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) SNV
Germline
Chr16:2081694 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
not specified
Ovarian serous cystadenocarcinoma
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048133 rs_753907159

9 SubmittersRCV000964609RCV001020951RCV001703809RCV004533019RCV003235210RCV005896664RCV006550027

NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) SNV
Germline
Chr16:2081763 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048383 rs_776738338

8 SubmittersRCV000435216RCV001080300RCV002257673RCV004805000

NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) SNV
Germline
Chr16:2083729 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA049614 rs_368712041

8 SubmittersRCV000727389RCV001080132RCV002313118RCV004735522

NM_000548.5(TSC2):c.4006-12G>A SNV
Germline
Chr16:2084216 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA16606954 rs_1057524490

2 SubmittersRCV000426254RCV005090878

NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr) SNV
Germline
Chr16:2085006 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16606959 rs_1057522800

5 SubmittersRCV000442144RCV001088704RCV002328973RCV005018731

NM_000548.5(TSC2):c.-34G>A SNV
Germline
Chr16:2048061 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16607133 rs_559641280

2 SubmittersRCV000445322RCV001117228

NM_000548.5(TSC2):c.83C>A (p.Pro28His) SNV
Germline
Chr16:2048698 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16607134 rs_1057522105

6 SubmittersRCV000428159RCV000468568RCV002436294RCV004000421

NM_000548.5(TSC2):c.336+5G>C SNV
Germline
Chr16:2053457 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16607137 rs_1057523242

3 SubmittersRCV000817980RCV001698247

NM_000548.5(TSC2):c.1032G>A (p.Arg344=) SNV
Germline
Chr16:2060726 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16607138 rs_1057524033

4 SubmittersRCV001721443RCV002522626RCV004948291

NM_000548.5(TSC2):c.1303C>T (p.His435Tyr) SNV
Germline
Chr16:2062542 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029254 rs_760896048

8 SubmittersRCV000444336RCV001221267RCV002318425RCV004000390

NM_000548.5(TSC2):c.2030C>T (p.Pro677Leu) SNV
Germline
Chr16:2071867 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA035873 rs_376974525

7 SubmittersRCV000439541RCV000470228RCV001014141RCV004000404RCV005018728

NM_000548.5(TSC2):c.2147C>T (p.Ser716Phe) SNV
Germline
Chr16:2072290 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036848 rs_781153452

5 SubmittersRCV000436141RCV001359510RCV002429378RCV003996049

NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala) SNV
Germline
Chr16:2080239 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA046994 rs_759350468

4 SubmittersRCV000438616RCV003766401RCV004805018RCV005762018

NM_000548.5(TSC2):c.3554C>T (p.Ala1185Val) SNV
Germline
Chr16:2080321 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA16607153 rs_1057521812

5 SubmittersRCV000435796RCV001020594RCV001797719

NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu) SNV
Germline
Chr16:2081772 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16607157 rs_1057523452

6 SubmittersRCV000422551RCV001088069RCV002256234RCV004000516

NM_000548.5(TSC2):c.4165C>T (p.Pro1389Ser) SNV
Germline
Chr16:2084387 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA16607165 rs_1057520843

2 SubmittersRCV000426687RCV003626619

NM_000548.5(TSC2):c.4275G>A (p.Gly1425=) SNV
Germline
Chr16:2084497 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16607170 rs_1057522238

6 SubmittersRCV000421876RCV000644394RCV001022195RCV001117776

NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) SNV
Germline
Chr16:2084543 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16607171 rs_201710642

8 SubmittersRCV000441035RCV001086097RCV001119330RCV002328977

NM_000548.5(TSC2):c.4849+20C>T SNV
Germline
Chr16:2086399 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA052763 rs_140884776

4 SubmittersRCV000425338RCV002062747RCV004017616

NM_000548.5(TSC2):c.4989+5G>A SNV
Germline
Chr16:2086876 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA16607172 rs_1057522671

3 SubmittersRCV000439876RCV003380560RCV005055977

NM_000548.5(TSC2):c.975+7C>T SNV
Germline
Chr16:2058880 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA056774 rs_372463702

5 SubmittersRCV000429010RCV000456230

NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) SNV
Germline
Chr16:2074389 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA16607307 rs_781713438

8 SubmittersRCV000432659RCV001079672RCV001015871RCV004000567RCV005018737

NM_000548.5(TSC2):c.2742+6C>G SNV
Germline
Chr16:2076176 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16607312 rs_377568673

4 SubmittersRCV001223399RCV001720211RCV006550031

NM_000548.5(TSC2):c.3088A>G (p.Met1030Val) SNV
Germline
Chr16:2079153 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044156 rs_754276150

7 SubmittersRCV000433002RCV000456443RCV002323631RCV004999406RCV006550044

NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly) SNV
Germline
Chr16:2061991 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA16608029 rs_1057523509

2 SubmittersRCV000430283RCV001861619

NM_000548.5(TSC2):c.1443+5G>A SNV
Germline
Chr16:2063058 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Thymoma
Criteria Provided
Conflicting Classifications
CA16608034 rs_1057521562

6 SubmittersRCV000435773RCV000707005RCV002392987RCV003463829RCV005896661

NM_000548.5(TSC2):c.2220+4C>G SNV
Germline
Chr16:2072367 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA037431 rs_781186613

11 SubmittersRCV000574046RCV000727502RCV001079788RCV004000345RCV004539808

NM_000548.5(TSC2):c.2640-10C>G SNV
Germline
Chr16:2076058 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16608050 rs_964883731

4 SubmittersRCV001214953RCV001720210RCV006550030

NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) SNV
Germline
Chr16:2082439 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048770 rs_749367382

10 SubmittersRCV000441786RCV000469602RCV000567292RCV001354866RCV006550012

NM_000548.5(TSC2):c.4849+3A>G SNV
Germline
Chr16:2086382 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16608071 rs_1057521378

5 SubmittersRCV000438097RCV002519545RCV004948283RCV004000369

NM_000548.5(TSC2):c.5384G>A (p.Arg1795His) SNV
Germline
Chr16:2088570 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA055272 rs_137854288

11 SubmittersRCV000423075RCV000565678RCV000531557RCV004000340RCV004808709

NM_000548.5(TSC2):c.*7G>A SNV
Germline
Chr16:2088617 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA7828404 rs_765016970

5 SubmittersRCV001121428RCV001703563RCV001797717RCV004530563

NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) SNV
Germline
Chr16:2088234 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA16609418 rs_1060499676

2 SubmittersRCV000449506RCV002502593

NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala) SNV
Germline
Chr9:132896306 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16612438 rs_1060503227

4 SubmittersRCV000474187RCV001020266RCV004568066

NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) SNV
Germline
Chr9:132896521 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612440 rs_1060503200

6 SubmittersRCV000470360RCV002307508RCV003168847RCV004001892

NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg) SNV
Germline
Chr9:132896639 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035781 rs_772043928

3 SubmittersRCV000462134RCV002323742RCV006550129

NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) SNV
Germline
Chr9:132896671 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16612441 rs_1060503214

3 SubmittersRCV000467181RCV000572644

NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) SNV
Germline
Chr9:132896711 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035635 rs_764738792

7 SubmittersRCV000468231RCV000567330RCV003139664RCV004001900

NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile) SNV
Germline
Chr9:132897266 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16612444 rs_1060503217

5 SubmittersRCV000471719RCV001016836RCV002525597

NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) SNV
Germline
Chr9:132902673 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612447 rs_868755168

7 SubmittersRCV000456582RCV000568606RCV001167710RCV001538625RCV004001888

NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) SNV
Germline
Chr9:132905797 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16612455 rs_1060503194

4 SubmittersRCV000474044RCV001013134RCV002489077

NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) SNV
Germline
Chr9:132905993 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029113 rs_751125011

7 SubmittersRCV000461460RCV001174799RCV002258915RCV005044697RCV006550134

NM_000368.5(TSC1):c.1317G>C (p.Leu439=) SNV
Germline
Chr9:132907317 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA028040 rs_770692313

9 SubmittersRCV000827336RCV001010956RCV001086396RCV004002195RCV004745416

NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) SNV
Germline
Chr9:132910617 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027303 rs_143502728

5 SubmittersRCV000464560RCV001764438RCV002356699RCV004001898

NM_000368.5(TSC1):c.1096C>G (p.Pro366Ala) SNV
Germline
Chr9:132911047 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16612486 rs_1041988929

2 SubmittersRCV000467445RCV004022868

NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) SNV
Germline
Chr9:132912338 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039224 rs_375144225

9 SubmittersRCV000475554RCV001018033RCV001591100RCV003155192RCV004001908

NM_000368.5(TSC1):c.771C>T (p.Ile257=) SNV
Germline
Chr9:132912424 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16612495 rs_1060504854

5 SubmittersRCV000460567RCV002402364RCV004002191RCV004777680

NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) SNV
Germline
Chr9:132921955 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612498 rs_1060503209

6 SubmittersRCV000475434RCV001764439RCV002348332RCV003476100RCV006550132

NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) SNV
Germline
Chr9:132896430 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036396 rs_754282309

7 SubmittersRCV000471445RCV000612784RCV002258914RCV004001887

NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) SNV
Germline
Chr9:132896617 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612560 rs_1060503196

4 SubmittersRCV000460336RCV002323743RCV004001890

NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser) SNV
Germline
Chr9:132896663 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035733 rs_138445573

4 SubmittersRCV000457246RCV002446833RCV004001893

NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) SNV
Germline
Chr9:132897329 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034791 rs_751362258

6 SubmittersRCV000467686RCV001016721RCV004001896

NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) SNV
Germline
Chr9:132897564 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16612565 rs_1060503203

5 SubmittersRCV000475479RCV001016277RCV000829005RCV005044696

NM_000368.5(TSC1):c.2391+1G>C SNV
Germline
Chr9:132902604 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA16612572 rs_1060503224

1 SubmittersRCV000463910

NM_000368.5(TSC1):c.1439-10T>A SNV
Germline
Chr9:132906149 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612582 rs_1060504852

3 SubmittersRCV000467353RCV004002185

NM_000368.5(TSC1):c.1194C>G (p.Ala398=) SNV
Germline
Chr9:132910640 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA16612586 rs_1060504861

6 SubmittersRCV000473192RCV002350040RCV004002203RCV003328589RCV005600940

NM_000368.5(TSC1):c.943T>A (p.Ser315Thr) SNV
Germline
Chr9:132911539 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039861 rs_185815387

2 SubmittersRCV000459038RCV004022867

NM_000368.5(TSC1):c.514G>A (p.Val172Met) SNV
Germline
Chr9:132921968 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612590 rs_952813051

7 SubmittersRCV000474318RCV000571730RCV001548481RCV004001906

NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) SNV
Germline
Chr9:132896553 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA036094 rs_753263747

6 SubmittersRCV000468565RCV001018981RCV003153637RCV004802013RCV004812320

NM_000368.5(TSC1):c.2813+5C>T SNV
Germline
Chr9:132897418 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612623 rs_1060503223

3 SubmittersRCV000472166RCV002436454RCV004802016

NM_000368.5(TSC1):c.1253C>A (p.Pro418His) SNV
Germline
Chr9:132910581 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16612640 rs_997339959

2 SubmittersRCV000469111RCV004022869

NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) SNV
Germline
Chr9:132910596 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612643 rs_1060503218

5 SubmittersRCV000457363RCV000568537RCV002489078RCV004001905

NM_000368.5(TSC1):c.1209G>A (p.Ser403=) SNV
Germline
Chr9:132910625 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027292 rs_141184479

9 SubmittersRCV000475936RCV000562014RCV001683506RCV004001904

NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) SNV
Germline
Chr9:132912296 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039371 rs_370916731

6 SubmittersRCV000474131RCV000561523RCV003476097RCV004802014

NM_000368.5(TSC1):c.830T>C (p.Val277Ala) SNV
Germline
Chr9:132912365 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612648 rs_200749357

3 SubmittersRCV000459301RCV002429539RCV004001895

NM_000368.5(TSC1):c.519G>A (p.Ala173=) SNV
Germline
Chr9:132921963 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037966 rs_768999400

8 SubmittersRCV000462166RCV000601036RCV001023702RCV001165739RCV004002199

NM_000368.5(TSC1):c.362A>T (p.Lys121Met) SNV
Germline
Chr9:132925588 Likely pathogenic Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16612651 rs_118203369

2 SubmittersRCV000474214RCV006268792

NM_000368.5(TSC1):c.54G>C (p.Met18Ile) SNV
Germline
Chr9:132928819 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612657 rs_940292214

5 SubmittersRCV000571184RCV000756827RCV001089381RCV004001897

NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn) SNV
Germline
Chr9:132896411 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16612730 rs_1060503226

2 SubmittersRCV000474862RCV002323745

NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) SNV
Germline
Chr9:132896486 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612731 rs_1060503191

4 SubmittersRCV000475425RCV001019417RCV004001886

NM_000368.5(TSC1):c.2975+6A>T SNV
Germline
Chr9:132897178 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612734 rs_1060503220

4 SubmittersRCV000460184RCV002481464RCV004001907

NM_000368.5(TSC1):c.2683G>A (p.Val895Ile) SNV
Germline
Chr9:132897553 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA034261 rs_576476807

3 SubmittersRCV000466864RCV002436452

NM_000368.5(TSC1):c.2626-3C>T SNV
Germline
Chr9:132897613 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Acute myeloid leukemia
Cholangiocarcinoma
Familial cancer of breast
Criteria Provided
Conflicting Classifications
CA16612736 rs_1060503192

11 SubmittersRCV000460170RCV001703175RCV002429538RCV003912811RCV005401450RCV005899501RCV005899502RCV005899500

NM_000368.5(TSC1):c.2614G>C (p.Asp872His) SNV
Germline
Chr9:132900726 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16612739 rs_746607455

5 SubmittersRCV000458622RCV001016107RCV004721377RCV005044699

NM_000368.5(TSC1):c.2303G>A (p.Arg768His) SNV
Germline
Chr9:132902693 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612757 rs_1033725987

6 SubmittersRCV000467121RCV000575617RCV000764812RCV004802015

NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn) SNV
Germline
Chr9:132904429 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16612762 rs_768189353

3 SubmittersRCV000469642RCV002418418RCV004001909

NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) SNV
Germline
Chr9:132905662 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030103 rs_372583166

9 SubmittersRCV000473830RCV000491881RCV001090688RCV005398636RCV006550135

NM_000368.5(TSC1):c.1818T>A (p.His606Gln) SNV
Germline
Chr9:132905760 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA029913 rs_758769193

5 SubmittersRCV000462659RCV002411506RCV003476099RCV006550131RCV005418142

NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) SNV
Germline
Chr9:132905984 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029180 rs_765149885

6 SubmittersRCV000475896RCV001012341RCV001770354RCV004001891

NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) SNV
Germline
Chr9:132906814 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Craniopharyngioma
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC1-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028454 rs_371093730

9 SubmittersRCV000470038RCV000761012RCV001011148RCV001591099RCV004745404RCV005044698RCV006550136

NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala) SNV
Germline
Chr9:132911005 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16612770 rs_1060503216

2 SubmittersRCV000462240RCV002323744

NM_000368.5(TSC1):c.1113C>A (p.His371Gln) SNV
Germline
Chr9:132911030 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA027069 rs_771217333

6 SubmittersRCV000475917RCV001017361RCV003401488RCV004001903RCV004721376

NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) SNV
Germline
Chr9:132912333 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039240 rs_770653972

9 SubmittersRCV000458416RCV000565985RCV000610190RCV004001889

NM_000368.5(TSC1):c.597C>T (p.Phe199=) SNV
Germline
Chr9:132921885 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038194 rs_202242304

8 SubmittersRCV000457356RCV001024739RCV001540781RCV002496840RCV004002201

NM_000368.5(TSC1):c.389C>T (p.Thr130Ile) SNV
Germline
Chr9:132923467 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA037444 rs_779340088

2 SubmittersRCV000470585RCV002356698

NM_000548.5(TSC2):c.673G>A (p.Val225Met) SNV
Germline
Chr16:2056668 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA056118 rs_142919353

9 SubmittersRCV000466214RCV000572112RCV002510893RCV004000698RCV005018754

NM_000548.5(TSC2):c.733C>T (p.Arg245Cys) SNV
Germline
Chr16:2056728 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056249 rs_375574283

7 SubmittersRCV000472885RCV000565481RCV001584139RCV004000689

NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) SNV
Germline
Chr16:2058820 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056666 rs_201144475

8 SubmittersRCV000732320RCV001086904RCV002255384RCV004000681

NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro) SNV
Germline
Chr16:2060809 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614653 rs_1060500919

7 SubmittersRCV000457917RCV001017372RCV002244933RCV003463864RCV006550089

NM_000548.5(TSC2):c.1362G>C (p.Arg454Ser) SNV
Germline
Chr16:2062972 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029692 rs_374252944

6 SubmittersRCV000470761RCV001011130RCV001591076RCV004000707

NM_000548.5(TSC2):c.1874C>T (p.Ser625Leu) SNV
Germline
Chr16:2071544 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA034344 rs_368285556

7 SubmittersRCV000459822RCV001584142RCV002411436RCV004000725RCV004529591

NM_000548.5(TSC2):c.2039G>A (p.Arg680Gln) SNV
Germline
Chr16:2071876 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035970 rs_756536921

6 SubmittersRCV000464533RCV001014158RCV001310309RCV004000691

NM_000548.5(TSC2):c.2133C>T (p.Gly711=) SNV
Germline
Chr16:2072276 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA16614672 rs_1060500915

3 SubmittersRCV000472097RCV002418363RCV005018751

NM_000548.5(TSC2):c.2473G>C (p.Val825Leu) SNV
Germline
Chr16:2074317 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039144 rs_149860212

3 SubmittersRCV000458453RCV002451086RCV004000686

NM_000548.5(TSC2):c.576C>T (p.Asp192=) SNV
Germline
Chr16:2055496 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA055420 rs_761704292

9 SubmittersRCV000728148RCV001083499RCV002256287RCV003323552RCV004002062RCV004533226

NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) SNV
Germline
Chr16:2058851 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614697 rs_1060500970

6 SubmittersRCV000524092RCV001080775RCV002379425RCV004000722

NM_000548.5(TSC2):c.991A>G (p.Asn331Asp) SNV
Germline
Chr16:2060685 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614698 rs_1060500974

2 SubmittersRCV000474153RCV004948316

NM_000548.5(TSC2):c.3158C>T (p.Ala1053Val) SNV
Germline
Chr16:2079302 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA044608 rs_760214724

6 SubmittersRCV000470486RCV002323694RCV004000713RCV006259932

NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys) SNV
Germline
Chr16:2060740 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16614703 rs_1060500916

4 SubmittersRCV000460360RCV002402240RCV004000679RCV004760500

NM_000548.5(TSC2):c.3254C>T (p.Ser1085Leu) SNV
Germline
Chr16:2079398 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA16614705 rs_45517287

4 SubmittersRCV000463902RCV000571612RCV004735538

NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) SNV
Germline
Chr16:2079559 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA045537 rs_140772300

10 SubmittersRCV000464873RCV000569892RCV001721496RCV004533160RCV005398591RCV006550090

NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter) SNV
Germline
Chr16:2064302 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16614712 rs_1060500931

2 SubmittersRCV000471983RCV004721367

NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) SNV
Germline
Chr16:2064405 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031083 rs_376573446

9 SubmittersRCV000471506RCV001012244RCV001564370RCV006550085

NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) SNV
Germline
Chr16:2079565 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA045588 rs_773545852

8 SubmittersRCV000468858RCV000575419RCV001567190RCV006550087

NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) SNV
Germline
Chr16:2079651 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA046408 rs_373939435

11 SubmittersRCV000456897RCV001020136RCV001618706RCV004533165RCV004801986RCV005418135

NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) SNV
Germline
Chr16:2070513 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16614713 rs_910068556

5 SubmittersRCV000466443RCV000570630RCV000765265RCV003325482

NM_000548.5(TSC2):c.3395C>T (p.Ser1132Leu) SNV
Germline
Chr16:2079667 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046484 rs_137854074

8 SubmittersRCV000462249RCV000569265RCV002056709RCV006550109

NM_000548.5(TSC2):c.1839+9G>A SNV
Germline
Chr16:2070587 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA033989 rs_751834233

4 SubmittersRCV000465685RCV004999492RCV005018788

NM_000548.5(TSC2):c.1840-3C>T SNV
Germline
Chr16:2071507 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614719 rs_397515154

2 SubmittersRCV000464680RCV003298478

NM_000548.5(TSC2):c.3739A>G (p.Thr1247Ala) SNV
Germline
Chr16:2081723 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
not specified
Criteria Provided
Conflicting Classifications
CA048226 rs_369961807

5 SubmittersRCV000460265RCV002365619RCV004567967RCV004782384

NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys) SNV
Germline
Chr16:2071552 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA034358 rs_45437797

7 SubmittersRCV000460911RCV002256251RCV004000726RCV004719823

NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) SNV
Germline
Chr16:2071603 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034565 rs_746677177

9 SubmittersRCV000467991RCV000603190RCV002411434RCV003392273RCV004000694

NM_000548.5(TSC2):c.1946+4C>T SNV
Germline
Chr16:2071620 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA034937 rs_752017577

4 SubmittersRCV000477517RCV000563727RCV006259927

NM_000548.5(TSC2):c.3815-3C>T SNV
Germline
Chr16:2082433 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048741 rs_770054036

6 SubmittersRCV000567605RCV000578750RCV001088103RCV006550104

NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) SNV
Germline
Chr16:2083766 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA049735 rs_375883030

7 SubmittersRCV000475183RCV001021517RCV001088738RCV006550101

NM_000548.5(TSC2):c.3993T>A (p.Asp1331Glu) SNV
Germline
Chr16:2083804 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA049880 rs_776049462

6 SubmittersRCV000460658RCV000607342RCV001021602RCV004000727

NM_000548.5(TSC2):c.2465C>T (p.Ala822Val) SNV
Germline
Chr16:2074309 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614739 rs_936484229

4 SubmittersRCV000475520RCV000492042RCV006550105

NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly) SNV
Germline
Chr16:2074378 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039405 rs_764608837

7 SubmittersRCV000458545RCV002257697RCV002291628RCV003463868RCV006550106

NM_000548.5(TSC2):c.2655C>T (p.Ile885=) SNV
Germline
Chr16:2076083 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614743 rs_1060504116

6 SubmittersRCV000461496RCV001016224RCV006550184

NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val) SNV
Germline
Chr16:2084414 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614748 rs_1060500928

4 SubmittersRCV000459017RCV000522580RCV000561438

NM_000548.5(TSC2):c.2742+6C>T SNV
Germline
Chr16:2076176 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA041460 rs_377568673

6 SubmittersRCV000828764RCV001084448RCV004000711

NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) SNV
Germline
Chr16:2084438 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA050657 rs_147719291

10 SubmittersRCV000469951RCV001543108RCV001696845RCV002318520

NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) SNV
Germline
Chr16:2077686 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042810 rs_769527912

6 SubmittersRCV000462321RCV002311770RCV004000677

NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys) SNV
Germline
Chr16:2084573 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050953 rs_369553241

6 SubmittersRCV000465620RCV001022340RCV001568800RCV006550114

NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys) SNV
Germline
Chr16:2084630 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051067 rs_767889030

7 SubmittersRCV000458065RCV001022436RCV001529238RCV004000720

NM_000548.5(TSC2):c.3233G>A (p.Arg1078Gln) SNV
Germline
Chr16:2079377 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044900 rs_368095502

4 SubmittersRCV000457622RCV002446790RCV004801985

NM_000548.5(TSC2):c.4409G>A (p.Arg1470His) SNV
Germline
Chr16:2084631 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614762 rs_1060500969

7 SubmittersRCV000472949RCV002256249RCV003237849RCV004000721

NM_000548.5(TSC2):c.3368G>A (p.Gly1123Glu) SNV
Germline
Chr16:2079640 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614770 rs_1060500968

2 SubmittersRCV000465409RCV002451089

NM_000548.5(TSC2):c.4537G>A (p.Glu1513Lys) SNV
Germline
Chr16:2084994 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA051548 rs_767449740

3 SubmittersRCV000459338RCV002339131RCV004999433

NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) SNV
Germline
Chr16:2079663 Conflicting classifications of pathogenicity Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614772 rs_775639244

9 SubmittersRCV000473877RCV000509526RCV001020177RCV001584141RCV003463869RCV004000718

NM_000548.5(TSC2):c.4569+1G>T SNV
Germline
Chr16:2085027 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA16614777 rs_1060500972

1 SubmittersRCV000463381

NM_000548.5(TSC2):c.3484C>T (p.Pro1162Ser) SNV
Germline
Chr16:2080251 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614779 rs_895935495

5 SubmittersRCV000470235RCV001020411RCV001560998RCV006550103

NM_000548.5(TSC2):c.3610+4C>T SNV
Germline
Chr16:2080381 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047705 rs_201978396

8 SubmittersRCV000467722RCV002256247RCV003317212RCV005018752RCV006550088

NM_000548.5(TSC2):c.5010C>T (p.His1670=) SNV
Germline
Chr16:2087883 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA053480 rs_376306544

9 SubmittersRCV000459079RCV000569200RCV001116430RCV001584178RCV003987546

NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) SNV
Germline
Chr16:2084438 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050670 rs_147719291

10 SubmittersRCV000572627RCV000593021RCV001086896RCV006550094

NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) SNV
Germline
Chr16:2084636 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051085 rs_558737770

9 SubmittersRCV000574358RCV000842193RCV001085474RCV004000676

NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn) SNV
Germline
Chr16:2084991 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614792 rs_774441486

8 SubmittersRCV000459439RCV001022659RCV001249140RCV004000680

NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) SNV
Germline
Chr16:2088287 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054501 rs_140526185

7 SubmittersRCV000469868RCV000497871RCV002348294RCV003463866RCV005010351RCV006554528

NM_000548.5(TSC2):c.5233C>T (p.Arg1745Cys) SNV
Germline
Chr16:2088299 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054522 rs_760413281

6 SubmittersRCV000595657RCV000768353RCV001023772RCV001085143RCV006550084

NM_000548.5(TSC2):c.5259G>A (p.Arg1753=) SNV
Germline
Chr16:2088325 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16614799 rs_1060500945

3 SubmittersRCV000458781RCV004022583RCV004999436

NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) SNV
Germline
Chr16:2088448 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054841 rs_397515318

11 SubmittersRCV000572414RCV000589806RCV001086420RCV004735537RCV006550102

NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) SNV
Germline
Chr16:2087887 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA053492 rs_374066182

10 SubmittersRCV000466909RCV001023422RCV001538711RCV006550108

NM_000548.5(TSC2):c.5068+8C>T SNV
Germline
Chr16:2087949 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA053737 rs_747827911

4 SubmittersRCV000597668RCV001085726RCV003224293

NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) SNV
Germline
Chr16:2088227 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054307 rs_45517407

8 SubmittersRCV000658430RCV001086881RCV002257695RCV006550100

NM_000548.5(TSC2):c.193T>C (p.Cys65Arg) SNV
Germline
Chr16:2050454 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614896 rs_1060500965

2 SubmittersRCV000459248RCV002411435

NM_000548.5(TSC2):c.225+4G>A SNV
Germline
Chr16:2050490 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037914 rs_201901739

5 SubmittersRCV000473509RCV002429486RCV004000708

NM_000548.5(TSC2):c.281C>T (p.Pro94Leu) SNV
Germline
Chr16:2053397 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA042049 rs_200045926

6 SubmittersRCV000471856RCV001797088RCV002436401RCV004000706RCV004533162RCV005018756

NM_000548.5(TSC2):c.421G>T (p.Glu141Ter) SNV
Germline
Chr16:2054380 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA16614902 rs_1060500924

1 SubmittersRCV000458135

NM_000548.5(TSC2):c.1258-5G>T SNV
Germline
Chr16:2062492 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614911 rs_925954967

9 SubmittersRCV000460314RCV000502223RCV001536183RCV002257738RCV004002071

NM_000548.5(TSC2):c.1721A>G (p.Lys574Arg) SNV
Germline
Chr16:2070460 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16614928 rs_1060500926

5 SubmittersRCV000473481RCV000561401RCV003332174

NM_000548.5(TSC2):c.1783C>G (p.Gln595Glu) SNV
Germline
Chr16:2070522 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16614929 rs_45517199

3 SubmittersRCV000469059RCV002402241RCV004999435

NM_000548.5(TSC2):c.1946+5G>A SNV
Germline
Chr16:2071621 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034947 rs_766646261

5 SubmittersRCV000463588RCV001577174RCV002411433RCV004000690

NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys) SNV
Germline
Chr16:2072295 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA036889 rs_182538665

5 SubmittersRCV000460097RCV002256248RCV003153598RCV003320645

NM_000548.5(TSC2):c.2332A>G (p.Asn778Asp) SNV
Germline
Chr16:2072960 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16614946 rs_1060500946

4 SubmittersRCV000456379RCV000566345

NM_000548.5(TSC2):c.2837+4C>T SNV
Germline
Chr16:2076589 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042228 rs_544409858

6 SubmittersRCV000568105RCV000831366RCV001088779RCV006550115

NM_000548.5(TSC2):c.3132-1G>T SNV
Germline
Chr16:2079275 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA16614971 rs_45443096

1 SubmittersRCV000461214

NM_000548.5(TSC2):c.3181C>T (p.Leu1061=) SNV
Germline
Chr16:2079325 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16614972 rs_946673791

5 SubmittersRCV000477369RCV003168764RCV006550095RCV006259929

NM_000548.5(TSC2):c.3232C>T (p.Arg1078Trp) SNV
Germline
Chr16:2079376 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA044888 rs_78956195

3 SubmittersRCV000469143RCV000574231

NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) SNV
Germline
Chr16:2079414 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA045064 rs_754951889

11 SubmittersRCV000568480RCV000729893RCV001080374RCV004002105RCV004539994RCV006260016

NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg) SNV
Germline
Chr16:2079567 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA045612 rs_776855601

8 SubmittersRCV000461466RCV001019752RCV001731687RCV004808720RCV006550091

NM_000548.5(TSC2):c.3329C>G (p.Ala1110Gly) SNV
Germline
Chr16:2079601 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16614990 rs_1060500923

5 SubmittersRCV000461553RCV001019998RCV004721366RCV004805023

NM_000548.5(TSC2):c.3676A>G (p.Met1226Val) SNV
Germline
Chr16:2081660 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA048041 rs_769283410

2 SubmittersRCV000473267RCV004948312

NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr) SNV
Germline
Chr16:2081714 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615000 rs_993614997

6 SubmittersRCV000459726RCV001020994RCV002480363RCV003114581

NM_000548.5(TSC2):c.3733C>A (p.Arg1245=) SNV
Germline
Chr16:2081717 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615005 rs_777489742

9 SubmittersRCV000477628RCV000561517RCV001584180RCV002489102RCV006550172

NM_000548.5(TSC2):c.4001G>A (p.Ser1334Asn) SNV
Germline
Chr16:2083812 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16615016 rs_1060500964

3 SubmittersRCV000473934RCV002323695RCV005018759

NM_000548.5(TSC2):c.4086C>T (p.Val1362=) SNV
Germline
Chr16:2084308 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA050396 rs_763847509

7 SubmittersRCV000467793RCV001021835RCV000768124RCV004002081RCV004539990

NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) SNV
Germline
Chr16:2084309 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050403 rs_751203255

8 SubmittersRCV000713932RCV001086293RCV002257693RCV006550086

NM_000548.5(TSC2):c.4201C>G (p.Pro1401Ala) SNV
Germline
Chr16:2084423 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050641 rs_778147657

5 SubmittersRCV000465567RCV002329033RCV003128805RCV004000715

NM_000548.5(TSC2):c.694C>T (p.Pro232Ser) SNV
Germline
Chr16:2056689 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA056156 rs_751846529

3 SubmittersRCV000458732RCV002365618RCV006259930

NM_000548.5(TSC2):c.4420A>G (p.Arg1474Gly) SNV
Germline
Chr16:2084642 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA051088 rs_766719443

3 SubmittersRCV000462201RCV004000704RCV004678710

NM_000548.5(TSC2):c.4435G>A (p.Ala1479Thr) SNV
Germline
Chr16:2084657 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615031 rs_777529733

6 SubmittersRCV000458532RCV000500804RCV001022474RCV004000678RCV004777668

NM_000548.5(TSC2):c.4457C>T (p.Ala1486Val) SNV
Germline
Chr16:2084679 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA051222 rs_773527337

7 SubmittersRCV000470481RCV000517116RCV000562149RCV004000719RCV005018760

NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) SNV
Germline
Chr16:2085272 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA16615034 rs_1060500930

4 SubmittersRCV000470575RCV002311771RCV003463865

NM_000548.5(TSC2):c.1036A>G (p.Ile346Val) SNV
Germline
Chr16:2060730 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615037 rs_768760795

3 SubmittersRCV000462431RCV002393093RCV006550096

NM_000548.5(TSC2):c.4973A>G (p.Lys1658Arg) SNV
Germline
Chr16:2086855 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615040 rs_1050594534

4 SubmittersRCV000469448RCV001023350RCV005401444

NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) SNV
Germline
Chr16:2065520 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615042 rs_924098595

6 SubmittersRCV000460751RCV000571306RCV003470408RCV004000693RCV004999434

NM_000548.5(TSC2):c.5238C>T (p.His1746=) SNV
Germline
Chr16:2088304 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615045 rs_1060504084

4 SubmittersRCV000476609RCV002291642RCV002341077

NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) SNV
Germline
Chr16:2088317 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA054573 rs_781630603

8 SubmittersRCV000497304RCV001087863RCV001023801RCV004000709RCV004533164

NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser) SNV
Germline
Chr16:2065546 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615046 rs_1060500944

7 SubmittersRCV000477560RCV002255385RCV004000705

NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) SNV
Germline
Chr16:2088455 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615048 rs_1060500957

6 SubmittersRCV000457700RCV001023824RCV003463867RCV004000717

NM_000548.5(TSC2):c.1718C>T (p.Thr573Ile) SNV
Germline
Chr16:2070457 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA033135 rs_773304374

8 SubmittersRCV000461958RCV001012861RCV001731688RCV004000700RCV005018755

NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys) SNV
Germline
Chr16:2070492 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033336 rs_370324876

6 SubmittersRCV000469836RCV001013015RCV002274032RCV004000695

NM_000548.5(TSC2):c.5416T>C (p.Phe1806Leu) SNV
Germline
Chr16:2088602 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615055 rs_1060500910

3 SubmittersRCV000467233RCV002348290

NM_000548.5(TSC2):c.1903G>A (p.Asp635Asn) SNV
Germline
Chr16:2071573 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615059 rs_1060500932

4 SubmittersRCV000473625RCV000570501RCV004805024

NM_000548.5(TSC2):c.1946+5G>T SNV
Germline
Chr16:2071621 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615060 rs_766646261

5 SubmittersRCV000475200RCV000564701RCV004805025

NM_000548.5(TSC2):c.1969A>C (p.Lys657Gln) SNV
Germline
Chr16:2071806 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA035326 rs_45488199

7 SubmittersRCV000463315RCV001013872RCV004000685RCV005018753RCV006259928

NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) SNV
Germline
Chr16:2071852 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615063 rs_768864353

6 SubmittersRCV000457153RCV000568724RCV000765267RCV006259931RCV006550097

NM_000548.5(TSC2):c.2290C>A (p.Leu764Met) SNV
Germline
Chr16:2072918 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615073 rs_777614710

6 SubmittersRCV000464898RCV001764381RCV002446788RCV004000701

NM_000548.5(TSC2):c.2364G>A (p.Met788Ile) SNV
Germline
Chr16:2074208 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038757 rs_773786955

4 SubmittersRCV000456253RCV002451090RCV004000723

NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) SNV
Germline
Chr16:2079103 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615087 rs_1060500961

4 SubmittersRCV000475335RCV000761103RCV002436402

NM_000548.5(TSC2):c.3202A>C (p.Thr1068Pro) SNV
Germline
Chr16:2079346 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA16615089 rs_1060500947

1 SubmittersRCV000467462

NM_000548.5(TSC2):c.3212C>T (p.Thr1071Ile) SNV
Germline
Chr16:2079356 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615090 rs_45498892

5 SubmittersRCV000465303RCV000513743RCV000574600

NM_000548.5(TSC2):c.3268T>C (p.Ser1090Pro) SNV
Germline
Chr16:2079412 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615094 rs_1060500936

5 SubmittersRCV000464604RCV001019532RCV001796059RCV004000696

NM_000548.5(TSC2):c.3282G>A (p.Ser1094=) SNV
Germline
Chr16:2079426 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA16615095 rs_1060504095

6 SubmittersRCV000472662RCV001019645RCV003992301RCV005239043

NM_000548.5(TSC2):c.3284+6T>G SNV
Germline
Chr16:2079434 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Gastric cancer
Criteria Provided
Conflicting Classifications
CA045321 rs_375837026

6 SubmittersRCV000474128RCV001199080RCV004000724RCV005899441

NM_000548.5(TSC2):c.3318G>A (p.Lys1106=) SNV
Germline
Chr16:2079590 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA16615112 rs_1060504119

8 SubmittersRCV000477452RCV001569275RCV002451162RCV004002101RCV005407133

NM_000548.5(TSC2):c.3385C>T (p.Arg1129Cys) SNV
Germline
Chr16:2079657 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA16615117 rs_1028039505

6 SubmittersRCV000458982RCV002451088RCV004000702RCV004529590RCV005056015

NM_000548.5(TSC2):c.3551C>A (p.Ala1184Glu) SNV
Germline
Chr16:2080318 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615137 rs_1060500939

2 SubmittersRCV000463034RCV002339132

NM_000548.5(TSC2):c.3584C>T (p.Ala1195Val) SNV
Germline
Chr16:2080351 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047499 rs_773951533

6 SubmittersRCV000461845RCV000570432RCV001662421RCV004000712

NM_000548.5(TSC2):c.3855A>G (p.Gly1285=) SNV
Germline
Chr16:2082476 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615146 rs_891262541

7 SubmittersRCV000459409RCV001517670RCV002356730RCV002496803RCV004002070

NM_000548.5(TSC2):c.4006-6T>C SNV
Germline
Chr16:2084222 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16615149 rs_1060500953

6 SubmittersRCV000465986RCV001200214RCV004000710

NM_000548.5(TSC2):c.4219G>A (p.Val1407Met) SNV
Germline
Chr16:2084441 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050677 rs_45517332

5 SubmittersRCV000456699RCV000571397RCV004000697

NM_000548.5(TSC2):c.4461C>T (p.Ser1487=) SNV
Germline
Chr16:2084683 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051255 rs_777104003

6 SubmittersRCV000469741RCV002257736RCV004002053

NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) SNV
Germline
Chr16:2085250 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051881 rs_377377367

8 SubmittersRCV000465040RCV000603629RCV001022750RCV001119332

NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) SNV
Germline
Chr16:2086201 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA052261 rs_151140709

11 SubmittersRCV000474206RCV000561512RCV000615621RCV001119333RCV004533163

NM_000548.5(TSC2):c.4849+4C>A SNV
Germline
Chr16:2086383 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615176 rs_370426490

3 SubmittersRCV000465782RCV006287187

NM_000548.5(TSC2):c.5137C>T (p.Arg1713Cys) SNV
Germline
Chr16:2088116 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA054033 rs_759420443

4 SubmittersRCV000466636RCV002348293RCV005010350

NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu) SNV
Germline
Chr16:2088276 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054450 rs_749326176

9 SubmittersRCV000473435RCV001023737RCV001546269RCV005018757RCV006550098

NM_000548.5(TSC2):c.5288C>G (p.Pro1763Arg) SNV
Germline
Chr16:2088474 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615206 rs_781139561

3 SubmittersRCV000466239RCV002348291RCV006263956

NM_000548.5(TSC2):c.5339C>T (p.Thr1780Ile) SNV
Germline
Chr16:2088525 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055164 rs_778395191

7 SubmittersRCV000471005RCV000562164RCV000610568RCV003392272RCV004000682

NM_000548.5(TSC2):c.5374C>A (p.Gln1792Lys) SNV
Germline
Chr16:2088560 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16615208 rs_201916931

3 SubmittersRCV000457471RCV001023993

NM_000548.5(TSC2):c.5403G>T (p.Glu1801Asp) SNV
Germline
Chr16:2088589 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16615209 rs_1060500918

3 SubmittersRCV000465811RCV002348292RCV005056014

NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) SNV
Germline/somatic
Chr9:132928809 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038317 rs_749030456

8 SubmittersRCV000477710RCV000573120RCV000695216RCV001721544RCV001526808

NM_000368.5(TSC1):c.2208+2T>A SNV
Germline
Chr9:132903649 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA16618767 rs_1064794132

6 SubmittersRCV000487211RCV000565398RCV000781918RCV001333394RCV004568170

NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) SNV
Germline
Chr9:132911004 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16618776 rs_1064796512

6 SubmittersRCV000478581RCV000684873RCV002323841RCV004568210RCV004802075

NM_000368.5(TSC1):c.107-1G>A SNV
Germline
Chr9:132927305 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16618780 rs_1064793494

5 SubmittersRCV000482412RCV001797732

NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) SNV
Germline
Chr16:2053444 Pathogenic Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16620085 rs_1064796511

3 SubmittersRCV000478118RCV003338609RCV002323840

NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) SNV
Germline
Chr16:2064309 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030798 rs_751984707

6 SubmittersRCV000478401RCV000691424RCV003343855RCV003470587RCV006550229

NM_000548.5(TSC2):c.1593C>G (p.Ile531Met) SNV
Germline
Chr16:2064421 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16620088 rs_45517180

5 SubmittersRCV001359632RCV001704636RCV002402406RCV006550223

NM_000548.5(TSC2):c.2221-1G>A SNV
Germline
Chr16:2072848 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA16620092 rs_45517218

4 SubmittersRCV000482093RCV001797734

NM_000548.5(TSC2):c.2656G>C (p.Val886Leu) SNV
Germline
Chr16:2076084 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16620093 rs_999523698

6 SubmittersRCV000487076RCV001037910RCV002455934RCV006550226

NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys) SNV
Germline
Chr16:2077692 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA042875 rs_768241596

4 SubmittersRCV000480699RCV000575219RCV001087822

NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) SNV
Germline
Chr16:2086818 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA16620103 rs_1064796970

4 SubmittersRCV000480140RCV000555170

NM_000368.5(TSC1):c.2162G>A (p.Arg721His) SNV
Germline
Chr9:132903697 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031606 rs_769566267

6 SubmittersRCV000488377RCV001089212RCV002431423RCV004003419

NM_000548.5(TSC2):c.4006-1G>A SNV
Germline
Chr16:2084227 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394299109 rs_1085307853

2 SubmittersRCV000490195RCV002289659

NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg) SNV
Germline
Chr9:132897226 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA035096 rs_770834438

2 SubmittersRCV000491384RCV001856934

NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter) SNV
Germline
Chr9:132900810 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375370252 rs_1114167619

2 SubmittersRCV000491561RCV005091015

NM_000548.5(TSC2):c.1294C>T (p.Gln432Ter) SNV
Germline
Chr16:2062533 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA394322093 rs_1114167462

5 SubmittersRCV000491025RCV003626623RCV004721391RCV005018825

NM_000548.5(TSC2):c.2958G>A (p.Val986=) SNV
Germline
Chr16:2077718 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492954984 rs_1114167464

3 SubmittersRCV000492037RCV001856927RCV004800426

NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met) SNV
Germline
Chr16:2079353 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044749 rs_147989574

8 SubmittersRCV000491778RCV000542621RCV001577170RCV004003437

NM_000548.5(TSC2):c.4324G>T (p.Glu1442Ter) SNV
Germline
Chr16:2084546 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394301349 rs_45469392

2 SubmittersRCV000491994RCV003512050

NM_000548.5(TSC2):c.5161-2A>G SNV
Germline
Chr16:2088225 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394313791 rs_1114167468

2 SubmittersRCV000491033RCV002526065

NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) SNV
Germline
Chr16:2054317 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394306592 rs_1131691602

3 SubmittersRCV000494472RCV000689112

NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) SNV
Germline
Chr16:2055420 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394309138 rs_1131691794

3 SubmittersRCV001050966RCV000493895

NM_000548.5(TSC2):c.1093A>G (p.Ile365Val) SNV
Germline
Chr16:2060787 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028137 rs_370403197

5 SubmittersRCV000493232RCV001064683RCV002431439RCV004003479

NM_000548.5(TSC2):c.2545+5G>C SNV
Germline
Chr16:2074394 Likely pathogenic Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA645369636 rs_1131691965

2 SubmittersRCV000493694RCV000763366

NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) SNV
Germline
Chr16:2084289 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394299390 rs_747104864

6 SubmittersRCV000497895RCV000702009RCV001021794RCV004003505

NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe) SNV
Germline
Chr16:2084977 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394302786 rs_746246149

5 SubmittersRCV000497607RCV001022632RCV001078813RCV006550256

NM_000548.5(TSC2):c.1119+1G>C SNV
Unknown
Chr16:2060814 Pathogenic Tuberous sclerosis 2 No Assertion Criteria Provided
CA394318489 rs_45475793

1 SubmittersRCV000512714

NM_000548.5(TSC2):c.3397+15C>T SNV
Germline
Chr16:2079684 Conflicting classifications of pathogenicity Condition: not provided
not specified
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA046526 rs_202246408

5 SubmittersRCV000514483RCV000599832RCV001117665RCV002060187

NM_000368.5(TSC1):c.1264-1G>A SNV
Germline
Chr9:132907371 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 1
Malignant tumor of urinary bladder
Criteria Provided
Multiple Submitters
No Conflicts
CA375366235 rs_1554816432

4 SubmittersRCV000516494RCV001851470RCV005901162

NM_000368.5(TSC1):c.340C>T (p.Pro114Ser) SNV
Germline
Chr9:132925610 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA036801 rs_779395169

7 SubmittersRCV000517515RCV000537301RCV001020229RCV004745434RCV005044771

NM_000548.5(TSC2):c.1946+1G>A SNV
Germline
Chr16:2071617 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394273426 rs_397514994

3 SubmittersRCV000518649RCV001194693

NM_000548.5(TSC2):c.3974G>A (p.Gly1325Asp) SNV
Germline
Chr16:2083785 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA049827 rs_754680848

4 SubmittersRCV000516748RCV001857933RCV005502819

NM_000548.5(TSC2):c.4569+1G>A SNV
Germline
Chr16:2085027 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts
CA394303133 rs_1060500972

5 SubmittersRCV000516864RCV001036453RCV004568661

NM_000548.5(TSC2):c.4990-1G>A SNV
Germline
Chr16:2087862 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394310850 rs_1555439650

5 SubmittersRCV000516408RCV001851471RCV004948376

NM_000548.5(TSC2):c.5291G>A (p.Ser1764Asn) SNV
Germline
Chr16:2088477 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276759923 rs_138831802

8 SubmittersRCV000516657RCV000529988RCV001023876RCV001572599RCV004003590

NM_000368.5(TSC1):c.1063A>G (p.Met355Val) SNV
Germline
Chr9:132911080 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367734 rs_1302832406

5 SubmittersRCV001009796RCV000795024RCV001722439RCV004003595

NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) SNV
Germline
Chr9:132923364 Pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375373170 rs_1554819870

3 SubmittersRCV000523245RCV000988280

NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) SNV
Germline
Chr9:132928850 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375375427 rs_1269896419

5 SubmittersRCV000520247RCV000694959RCV002257779

NM_000548.5(TSC2):c.648+6T>C SNV
Germline
Chr16:2056250 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055922 rs_372007135

5 SubmittersRCV000523471RCV001086111RCV004537884RCV006550295

NM_000548.5(TSC2):c.1112A>G (p.Gln371Arg) SNV
Germline
Chr16:2060806 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394318377 rs_1555500581

3 SubmittersRCV000523784RCV002438264RCV003512053

NM_000548.5(TSC2):c.2966+15G>A SNV
Germline
Chr16:2077741 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Cervical cancer
Criteria Provided
Conflicting Classifications
CA620377275 rs_779884344

4 SubmittersRCV000519806RCV002060284RCV005018898RCV005901208

NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro) SNV
Germline
Chr16:2079637 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276746167 rs_369536711

6 SubmittersRCV000528710RCV000523797RCV001020103RCV006550286

NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) SNV
Germline
Chr16:2080252 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047132 rs_778069675

6 SubmittersRCV000520176RCV001020414RCV001085805RCV004003619

NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser) SNV
Germline
Chr16:2081783 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048474 rs_757010959

5 SubmittersRCV000521160RCV000644179RCV004023617RCV006550293

NM_000548.5(TSC2):c.5068+2T>C SNV
Germline
Chr16:2087943 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394311751 rs_397515152

5 SubmittersRCV000521796RCV000704780RCV002350148

NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys) SNV
Germline
Chr16:2088549 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055219 rs_397515221

5 SubmittersRCV001023976RCV001204908RCV001696827RCV005401477

NM_000548.5(TSC2):c.5396C>T (p.Ser1799Leu) SNV
Germline
Chr16:2088582 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055299 rs_778484981

7 SubmittersRCV000522751RCV000644277RCV001024028RCV004541631RCV004003612

NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro) SNV
Germline
Chr9:132896380 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA036590 rs_762641110

6 SubmittersRCV000530823RCV001020060RCV004745460RCV006550372RCV004760572

NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) SNV
Germline
Chr9:132896429 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375366674 rs_1554812661

3 SubmittersRCV000530044RCV002456132RCV004802157

NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met) SNV
Germline
Chr9:132896566 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375367179 rs_1167652701

3 SubmittersRCV000558171RCV002258953

NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) SNV
Germline
Chr9:132897229 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375368448 rs_1433723046

6 SubmittersRCV000534632RCV002438382RCV003329299RCV005044815RCV003999212

NM_000368.5(TSC1):c.2503-3T>C SNV
Germline
Chr9:132900840 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA591056821 rs_1355806067

5 SubmittersRCV000552922RCV005298523RCV004802153RCV005044813

NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) SNV
Germline
Chr9:132903748 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA031442 rs_752054698

7 SubmittersRCV000595767RCV001079196RCV002420444RCV004802151RCV004745457

NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser) SNV
Germline
Chr9:132903809 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA031030 rs_746909024

2 SubmittersRCV000535456RCV002420442

NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) SNV
Germline
Chr9:132905629 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200888178 rs_939275328

4 SubmittersRCV000552146RCV002413536RCV003235281RCV003999200

NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) SNV
Germline
Chr9:132905662 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA030082 rs_372583166

6 SubmittersRCV000538760RCV000563536RCV005049600RCV006260182

NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln) SNV
Germline
Chr9:132905806 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029707 rs_768985094

4 SubmittersRCV000535112RCV000567125RCV006550359

NM_000368.5(TSC1):c.1219G>A (p.Val407Met) SNV
Germline
Chr9:132910615 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027322 rs_769331772

7 SubmittersRCV000840913RCV001083325RCV001821551RCV002316553RCV003153710RCV006550355

NM_000368.5(TSC1):c.848C>T (p.Ala283Val) SNV
Germline
Chr9:132912347 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA375369249 rs_1554817613

2 SubmittersRCV000525964RCV003153711

NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) SNV
Germline
Chr9:132921926 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375372741 rs_1279777367

6 SubmittersRCV000558926RCV000566027RCV003476286RCV004802158

NM_000368.5(TSC1):c.524T>C (p.Val175Ala) SNV
Germline
Chr9:132921958 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375372890 rs_1415895533

5 SubmittersRCV000546386RCV001023799RCV006550374

NM_000368.5(TSC1):c.65G>A (p.Arg22Gln) SNV
Germline
Chr9:132928808 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038390 rs_141736779

3 SubmittersRCV000542889RCV002377089

NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) SNV
Germline
Chr9:132896545 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036127 rs_755396992

5 SubmittersRCV000527076RCV000562217RCV003999219

NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) SNV
Germline
Chr9:132896651 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035767 rs_375394001

7 SubmittersRCV000532264RCV001018500RCV001821552RCV005044818RCV006550369

NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) SNV
Germline
Chr9:132896722 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367938 rs_1554812991

4 SubmittersRCV000548959RCV002438384RCV003999214

NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) SNV
Germline
Chr9:132896437 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375366696 rs_1554812687

4 SubmittersRCV000553886RCV001019746RCV001755840

NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) SNV
Germline
Chr9:132896744 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375368037 rs_1554813029

4 SubmittersRCV000536602RCV002438383RCV003459235RCV003999213

NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu) SNV
Germline
Chr9:132896662 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375367614 rs_1554812917

3 SubmittersRCV000531464RCV003352915

NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) SNV
Germline
Chr9:132896707 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367854 rs_1263094349

5 SubmittersRCV000525091RCV002316554RCV003476284RCV003999215

NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) SNV
Germline
Chr9:132897263 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC1-related disorder
Condition: not provided
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA034926 rs_767946427

11 SubmittersRCV000558701RCV000608003RCV001016839RCV003999211RCV004745459RCV005000168RCV005044814

NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) SNV
Germline
Chr9:132902715 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA032032 rs_776386313

6 SubmittersRCV000988275RCV000567937RCV004802152RCV006260184

NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) SNV
Germline
Chr9:132904422 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA030690 rs_779584449

6 SubmittersRCV000534575RCV001576295RCV002256367

NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) SNV
Germline
Chr9:132904425 Pathogenic Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375361284 rs_1554815454

4 SubmittersRCV000558526RCV005414508

NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) SNV
Germline
Chr9:132905603 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200888114 rs_914628341

7 SubmittersRCV000545216RCV001013813RCV003419955RCV003999201

NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) SNV
Germline
Chr9:132905707 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029981 rs_754401816

5 SubmittersRCV000536952RCV001013415RCV003159132RCV003999197

NM_000368.5(TSC1):c.1800G>C (p.Gln600His) SNV
Germline
Chr9:132905778 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375363430 rs_1254353359

6 SubmittersRCV000536003RCV001561371RCV002413534RCV003476283RCV003999196

NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg) SNV
Germline
Chr9:132904414 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030742 rs_757322533

4 SubmittersRCV000527544RCV002420441RCV006277879RCV006550362

NM_000368.5(TSC1):c.1779A>G (p.Arg593=) SNV
Germline
Chr9:132905799 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200888395 rs_964191879

6 SubmittersRCV000543019RCV000612611RCV001013147RCV003999195

NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) SNV
Germline
Chr9:132905581 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375362211 rs_1419720341

7 SubmittersRCV000546131RCV001014009RCV003900178RCV003999202RCV006260183

NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) SNV
Germline
Chr9:132907319 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028025 rs_199800297

8 SubmittersRCV000560409RCV000573643RCV001574705RCV003999188

NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) SNV
Germline
Chr9:132907306 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375366083 rs_1489175329

8 SubmittersRCV000534300RCV001195754RCV001545105RCV002257807RCV003999189

NM_000368.5(TSC1):c.1298A>G (p.His433Arg) SNV
Germline
Chr9:132907336 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375366153 rs_1554816403

3 SubmittersRCV000546518RCV002384146RCV003227784

NM_000368.5(TSC1):c.418C>G (p.Leu140Val) SNV
Germline
Chr9:132923438 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375373523 rs_1554819915

3 SubmittersRCV000539889RCV002330886RCV002461304

NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) SNV
Germline
Chr9:132925602 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA037162 rs_755799702

8 SubmittersRCV000550669RCV000570579RCV001584282RCV003999225RCV004745461

NM_000368.5(TSC1):c.168G>A (p.Pro56=) SNV
Germline
Chr9:132927243 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029422 rs_781483110

7 SubmittersRCV000529635RCV001167929RCV002257808RCV003999194

NM_000368.5(TSC1):c.166C>T (p.Pro56Ser) SNV
Germline
Chr9:132927245 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375375112 rs_1330089369

5 SubmittersRCV000558142RCV002404457RCV003999193RCV005044812

NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) SNV
Germline
Chr9:132923353 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
not specified
Criteria Provided
Conflicting Classifications
CA200901566 rs_1007335343

10 SubmittersRCV000529494RCV001023453RCV001653899RCV003476285RCV003999228RCV005044820RCV005407716

NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile) SNV
Germline
Chr9:132896374 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036612 rs_775420987

6 SubmittersRCV000543231RCV001731763RCV002323976RCV003999223

NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) SNV
Germline
Chr9:132896530 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367039 rs_1167362899

4 SubmittersRCV000547456RCV001019199RCV003999220

NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) SNV
Germline
Chr9:132896558 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367153 rs_112066743

7 SubmittersRCV000551227RCV001578209RCV002256369RCV003999218

NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) SNV
Germline
Chr9:132896683 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
not specified
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA375367719 rs_1313165721

8 SubmittersRCV000525879RCV002258952RCV003999216RCV004525968RCV004568821RCV002506340RCV003983115

NM_000368.5(TSC1):c.2976-10T>A SNV
Germline
Chr9:132896764 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA200925957 rs_913722609

2 SubmittersRCV000548030RCV005044816

NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln) SNV
Germline
Chr9:132897481 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375369224 rs_1319954878

4 SubmittersRCV000539845RCV000565384RCV004802154

NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala) SNV
Germline
Chr9:132897526 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375369387 rs_1554813482

2 SubmittersRCV000555924RCV002438379

NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) SNV
Germline/somatic
Chr9:132900816 Pathogenic Tuberous sclerosis 1
Condition: not provided
Malignant tumor of urinary bladder
TSC1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA375370274 rs_1447417010

6 SubmittersRCV000529738RCV000760377RCV003332194RCV003403292

NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser) SNV
Germline
Chr9:132905825 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA029621 rs_766367103

3 SubmittersRCV000559070RCV002298658RCV002404458

NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) SNV
Germline
Chr9:132906089 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200889097 rs_946491568

3 SubmittersRCV000541596RCV002395390RCV004802150

NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) SNV
Germline
Chr9:132906739 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375365773 rs_1554816213

6 SubmittersRCV000542508RCV002395389RCV003476282RCV004802149RCV005869601

NM_000368.5(TSC1):c.1263+4C>T SNV
Germline
Chr9:132910567 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA658657921 rs_1554817077

4 SubmittersRCV000539194RCV000853543RCV002448701RCV003999186

NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) SNV
Germline
Chr9:132911044 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367523 rs_1412914051

4 SubmittersRCV000548696RCV001017287RCV003999182

NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) SNV
Germline
Chr9:132911565 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039723 rs_752290177

8 SubmittersRCV000572956RCV000713912RCV001086734RCV006550375

NM_000368.5(TSC1):c.840A>G (p.Gln280=) SNV
Germline
Chr9:132912355 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA467593561 rs_1171852730

9 SubmittersRCV000550106RCV001017714RCV001731764RCV003999229RCV005044821

NM_000368.5(TSC1):c.236A>G (p.Tyr79Cys) SNV
Germline
Chr9:132925714 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA200902187 rs_373855276

2 SubmittersRCV000550161RCV005298522

NM_000368.5(TSC1):c.130A>G (p.Thr44Ala) SNV
Germline
Chr9:132927281 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375375194 rs_1399266964

4 SubmittersRCV000550137RCV002384148RCV005049599RCV006550357

NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) SNV
Germline
Chr9:132927290 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027330 rs_118203334

7 SubmittersRCV000525235RCV001010403RCV003424114RCV003999185

NM_000548.5(TSC2):c.344G>A (p.Arg115His) SNV
Germline
Chr16:2054303 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046888 rs_764529584

8 SubmittersRCV000544848RCV001020329RCV003999291

NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) SNV
Germline
Chr16:2054333 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA048294 rs_767059758

8 SubmittersRCV000550667RCV001021036RCV001115885RCV001591241

NM_000548.5(TSC2):c.670G>A (p.Ala224Thr) SNV
Germline
Chr16:2056665 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056104 rs_772558666

6 SubmittersRCV000528200RCV002255451RCV003237914RCV003999333

NM_000548.5(TSC2):c.686A>G (p.Asn229Ser) SNV
Germline
Chr16:2056681 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394312549 rs_1555498800

5 SubmittersRCV000536042RCV001025745RCV003223650RCV003999334

NM_000548.5(TSC2):c.691C>T (p.Leu231=) SNV
Germline
Chr16:2056686 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492957099 rs_1555498820

6 SubmittersRCV000548243RCV002377104RCV005000178RCV004802172

NM_000548.5(TSC2):c.774+4G>A SNV
Germline
Chr16:2056773 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA658658357 rs_1244859914

5 SubmittersRCV000531916RCV002404481RCV003999338RCV005641684

NM_000548.5(TSC2):c.955G>A (p.Val319Met) SNV
Germline
Chr16:2058853 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394315689 rs_1432086775

5 SubmittersRCV000541726RCV002377105RCV003999344RCV004568840RCV004777725

NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) SNV
Germline
Chr16:2061965 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394321063 rs_1057518321

4 SubmittersRCV000549305RCV002358534RCV003459237RCV003999247

NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) SNV
Germline
Chr16:2062595 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029417 rs_769147552

6 SubmittersRCV000532223RCV001011150RCV001770439RCV003470757RCV003999250

NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter) SNV
Germline
Chr16:2064377 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394326427 rs_1555502518

1 SubmittersRCV000558717

NM_000548.5(TSC2):c.1944C>T (p.Tyr648=) SNV
Germline
Chr16:2071614 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276737411 rs_878925198

5 SubmittersRCV000549481RCV002255446RCV003999260

NM_000548.5(TSC2):c.1945A>G (p.Met649Val) SNV
Germline
Chr16:2071615 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034654 rs_762331610

8 SubmittersRCV000576099RCV000559856RCV001558235RCV003999261

NM_000548.5(TSC2):c.2077C>T (p.Leu693=) SNV
Germline
Chr16:2071914 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493042635 rs_1167258871

6 SubmittersRCV000557560RCV001116105RCV002420463

NM_000548.5(TSC2):c.2561C>T (p.Pro854Leu) SNV
Germline
Chr16:2075814 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394278313 rs_1180511535

6 SubmittersRCV000552388RCV001770442RCV002456153RCV003999272

NM_000548.5(TSC2):c.2788A>G (p.Lys930Glu) SNV
Germline
Chr16:2076536 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394279985 rs_1596369527

2 SubmittersRCV000873551RCV002434133

NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) SNV
Germline
Chr16:2079637 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA046129 rs_369536711

9 SubmittersRCV000548172RCV001020102RCV001551674RCV005398809

NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) SNV
Germline
Chr16:2080334 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047482 rs_146734084

8 SubmittersRCV000713928RCV001020628RCV001079859RCV001119239

NM_000548.5(TSC2):c.3785A>G (p.Lys1262Arg) SNV
Germline
Chr16:2081769 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048406 rs_765255206

3 SubmittersRCV000526703RCV002350296RCV006550401

NM_000548.5(TSC2):c.3884-8C>G SNV
Germline
Chr16:2083687 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA620379146 rs_397515219

6 SubmittersRCV000529513RCV001591242RCV002257813RCV003999300

NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr) SNV
Germline
Chr16:2083710 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394296835 rs_1349341137

4 SubmittersRCV000547432RCV002483446RCV002367881RCV004568835

NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) SNV
Germline
Chr16:2084285 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394299372 rs_1555513911

6 SubmittersRCV000544952RCV000764030RCV001584296RCV004024051RCV003999303

NM_000548.5(TSC2):c.4157G>A (p.Ser1386Asn) SNV
Germline
Chr16:2084379 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394299699 rs_1555514071

2 SubmittersRCV000535213RCV002330896

NM_000548.5(TSC2):c.4292C>T (p.Ser1431Leu) SNV
Germline
Chr16:2084514 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050780 rs_375785710

3 SubmittersRCV000547245RCV002330900RCV003999311

NM_000548.5(TSC2):c.4509G>A (p.Gln1503=) SNV
Germline
Chr16:2084966 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA493043366 rs_45517349

3 SubmittersRCV000558942RCV004597825

NM_000548.5(TSC2):c.4516C>T (p.His1506Tyr) SNV
Germline
Chr16:2084973 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394302760 rs_1173459869

4 SubmittersRCV000542919RCV001764575RCV002341363

NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) SNV
Germline
Chr16:2085246 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394304453 rs_769834772

5 SubmittersRCV000538611RCV002341366RCV002491059RCV003999317

NM_000548.5(TSC2):c.4867A>T (p.Thr1623Ser) SNV
Germline
Chr16:2086749 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA052981 rs_749501410

6 SubmittersRCV000524930RCV001023171RCV003999320

NM_000548.5(TSC2):c.5131G>C (p.Val1711Leu) SNV
Germline
Chr16:2088110 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394312457 rs_139779505

3 SubmittersRCV000543917RCV002350297RCV003999325

NM_000548.5(TSC2):c.5193C>A (p.Asn1731Lys) SNV
Germline
Chr16:2088259 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394314174 rs_753336580

3 SubmittersRCV000557244RCV000568990

NM_000548.5(TSC2):c.147C>T (p.Ser49=) SNV
Germline
Chr16:2050408 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492954855 rs_1555495692

4 SubmittersRCV000544845RCV002256372

NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) SNV
Germline
Chr16:2050476 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394303587 rs_1489623582

7 SubmittersRCV000549108RCV001014482RCV003459239RCV003999266RCV004767367

NM_000548.5(TSC2):c.277C>T (p.Arg93Trp) SNV
Germline
Chr16:2053393 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA041936 rs_760688660

3 SubmittersRCV000557507RCV003999278RCV004024047

NM_000548.5(TSC2):c.758G>T (p.Cys253Phe) SNV
Germline
Chr16:2056753 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394312795 rs_766547457

3 SubmittersRCV000543169RCV002395408RCV003999336

NM_000548.5(TSC2):c.1078A>G (p.Ile360Val) SNV
Germline
Chr16:2060772 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394318052 rs_1555500560

4 SubmittersRCV000532295RCV002256370RCV006550377

NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser) SNV
Germline
Chr16:2061872 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394319747 rs_1440918649

4 SubmittersRCV000531383RCV002438410RCV003999245RCV006264053

NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg) SNV
Germline
Chr16:2061955 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028779 rs_771561593

5 SubmittersRCV000545351RCV001010318RCV003999246

NM_000548.5(TSC2):c.1370C>A (p.Ser457Tyr) SNV
Germline
Chr16:2062980 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394323620 rs_1278503244

5 SubmittersRCV000534906RCV001011185RCV003999251

NM_000548.5(TSC2):c.1646A>G (p.Asp549Gly) SNV
Germline
Chr16:2065565 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394267934 rs_1170792905

3 SubmittersRCV000542715RCV002395406RCV003314613

NM_000548.5(TSC2):c.1771G>A (p.Val591Ile) SNV
Germline
Chr16:2070510 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276735673 rs_984275273

3 SubmittersRCV000548111RCV003302845RCV003999257

NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe) SNV
Germline
Chr16:2071824 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035428 rs_747516623

6 SubmittersRCV000526190RCV001577413RCV001013916RCV003999262

NM_000548.5(TSC2):c.2128C>T (p.Leu710=) SNV
Germline
Chr16:2072271 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493042666 rs_1225700612

10 SubmittersRCV000528441RCV001584293RCV002257811RCV004537995RCV006550385

NM_000548.5(TSC2):c.342G>C (p.Glu114Asp) SNV
Germline
Chr16:2054301 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394306402 rs_1555497542

2 SubmittersRCV000560861RCV002341362

NM_000548.5(TSC2):c.2315C>T (p.Ala772Val) SNV
Germline
Chr16:2072943 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA038376 rs_397514984

4 SubmittersRCV000544312RCV000571953RCV003225085

NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) SNV
Germline
Chr16:2055421 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA053524 rs_755728007

5 SubmittersRCV000547492RCV000765259RCV002341371RCV003470759

NM_000548.5(TSC2):c.535G>A (p.Val179Met) SNV
Germline
Chr16:2055455 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA055211 rs_777105764

2 SubmittersRCV000538231RCV002350303

NM_000548.5(TSC2):c.848+5G>A SNV
Germline
Chr16:2057183 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA658658340 rs_1370989559

4 SubmittersRCV000526766RCV001017884RCV006550412

NM_000548.5(TSC2):c.2586G>A (p.Ala862=) SNV
Germline
Chr16:2075839 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA040154 rs_752865665

10 SubmittersRCV000530813RCV001016020RCV001696996RCV004541709RCV004704074RCV006550389

NM_000548.5(TSC2):c.2681C>T (p.Ala894Val) SNV
Germline
Chr16:2076109 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA040893 rs_777282955

7 SubmittersRCV000559686RCV002438411RCV003237913RCV003999273

NM_000548.5(TSC2):c.994G>A (p.Glu332Lys) SNV
Germline
Chr16:2060688 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276776600 rs_911600402

3 SubmittersRCV000559621RCV002384165

NM_000548.5(TSC2):c.997G>T (p.Val333Leu) SNV
Germline
Chr16:2060691 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394317320 rs_1336741146

6 SubmittersRCV000531279RCV002384166RCV002483449RCV002473056RCV003999347

NM_000548.5(TSC2):c.2749C>T (p.Arg917Trp) SNV
Germline
Chr16:2076497 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA041738 rs_781587135

4 SubmittersRCV000554781RCV002438413RCV003999276

NM_000548.5(TSC2):c.2823C>T (p.Asn941=) SNV
Germline
Chr16:2076571 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042060 rs_750806272

8 SubmittersRCV000592123RCV001086136RCV002257812RCV006550391

NM_000548.5(TSC2):c.1286A>G (p.Tyr429Cys) SNV
Germline
Chr16:2062525 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA029149 rs_774727624

3 SubmittersRCV000540723RCV002384163RCV003992321

NM_000548.5(TSC2):c.2963G>A (p.Arg988His) SNV
Germline
Chr16:2077723 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043038 rs_397515306

5 SubmittersRCV000530166RCV002255448RCV004735613RCV006550392

NM_000548.5(TSC2):c.1780A>G (p.Ile594Val) SNV
Germline
Chr16:2070519 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272907 rs_1555505128

3 SubmittersRCV000526430RCV006447369RCV005749577

NM_000548.5(TSC2):c.2966+4G>T SNV
Germline
Chr16:2077730 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA620377268 rs_1235253082

2 SubmittersRCV000540464RCV002438420

NM_000548.5(TSC2):c.1839+2T>C SNV
Germline
Chr16:2070580 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394273023 rs_1555505211

1 SubmittersRCV000524605

NM_000548.5(TSC2):c.3199G>C (p.Val1067Leu) SNV
Germline
Chr16:2079343 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA044723 rs_200681169

4 SubmittersRCV000525625RCV004691884RCV004568833RCV004024048

NM_000548.5(TSC2):c.1839+4T>C SNV
Germline
Chr16:2070582 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA620705905 rs_1246472342

2 SubmittersRCV000554315RCV003302846

NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) SNV
Germline
Chr16:2079630 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394286664 rs_1053311636

8 SubmittersRCV000527776RCV000569864RCV001584294RCV004527647RCV006550395

NM_000548.5(TSC2):c.2437G>A (p.Val813Met) SNV
Germline
Chr16:2074281 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039041 rs_375030314

6 SubmittersRCV000535705RCV001015534RCV003153712RCV003999270

NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) SNV
Germline
Chr16:2080318 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394289510 rs_1060500939

8 SubmittersRCV000527232RCV000567911RCV000764028RCV002225656RCV004735614RCV006550397

NM_000548.5(TSC2):c.2510C>G (p.Ala837Gly) SNV
Germline
Chr16:2074354 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA039285 rs_139919040

4 SubmittersRCV000553299RCV002431634RCV004527646

NM_000548.5(TSC2):c.2640-7A>G SNV
Germline
Chr16:2076061 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA658658379 rs_1555508569

3 SubmittersRCV000534426RCV006260188

NM_000548.5(TSC2):c.3675C>T (p.Asn1225=) SNV
Germline
Chr16:2081659 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493043046 rs_1483188996

4 SubmittersRCV000548837RCV001502296RCV002456159

NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) SNV
Germline
Chr16:2083701 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA276752704 rs_371239156

10 SubmittersRCV000546530RCV001531843RCV001121242RCV002358537RCV004541711RCV004568834

NM_000548.5(TSC2):c.2759T>C (p.Val920Ala) SNV
Germline
Chr16:2076507 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA041795 rs_749383639

4 SubmittersRCV000543543RCV002438414RCV005018948

NM_000548.5(TSC2):c.4019C>T (p.Ser1340Phe) SNV
Germline
Chr16:2084241 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA050173 rs_753656246

3 SubmittersRCV000531608RCV004802166RCV004948425

NM_000548.5(TSC2):c.2962C>T (p.Arg988Cys) SNV
Germline
Chr16:2077722 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043032 rs_763047420

6 SubmittersRCV000556209RCV001755848RCV003302849RCV003999281

NM_000548.5(TSC2):c.4074C>T (p.Pro1358=) SNV
Germline
Chr16:2084296 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050345 rs_144098854

7 SubmittersRCV000537919RCV001021809RCV004722899RCV006550402

NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) SNV
Germline
Chr16:2053394 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394305714 rs_1222477746

7 SubmittersRCV000546307RCV000575589RCV003459240RCV003999279

NM_000548.5(TSC2):c.299C>T (p.Ala100Val) SNV
Germline
Chr16:2053415 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 2
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043693 rs_375824753

10 SubmittersRCV000575476RCV000594514RCV000761927RCV001086235RCV004537998RCV006550394

NM_000548.5(TSC2):c.3415G>A (p.Val1139Ile) SNV
Germline
Chr16:2080182 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046764 rs_759174655

3 SubmittersRCV000543971RCV002456156RCV003999289

NM_000548.5(TSC2):c.3435G>A (p.Pro1145=) SNV
Germline
Chr16:2080202 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA046839 rs_749633483

12 SubmittersRCV000536909RCV000768122RCV001566491RCV002456157RCV003999290RCV004537999

NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser) SNV
Germline
Chr16:2080293 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394289363 rs_1326077397

6 SubmittersRCV000534200RCV001574195RCV002258956RCV006550396

NM_000548.5(TSC2):c.4348C>G (p.Pro1450Ala) SNV
Germline
Chr16:2084570 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA050903 rs_376381196

4 SubmittersRCV000550016RCV001569152RCV002330903

NM_000548.5(TSC2):c.356T>G (p.Leu119Arg) SNV
Germline
Chr16:2054315 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394306574 rs_1477548902

3 SubmittersRCV000528192RCV005422051RCV004024050

NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) SNV
Germline
Chr16:2055441 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA054487 rs_747538587

8 SubmittersRCV000551476RCV001023750RCV000590906RCV004760575RCV003883156

NM_000548.5(TSC2):c.3610+1G>C SNV
Germline
Chr16:2080378 Pathogenic Tuberous sclerosis 2
Condition: not provided
Clear cell carcinoma of kidney
Criteria Provided
Single Submitter
CA394289761 rs_45517299

3 SubmittersRCV000529115RCV001535827RCV005896827

NM_000548.5(TSC2):c.4569+2T>A SNV
Germline
Chr16:2085028 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394303141 rs_1555514984

1 SubmittersRCV000549364

NM_000548.5(TSC2):c.781C>G (p.Arg261Gly) SNV
Germline
Chr16:2057111 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394312974 rs_45517130

8 SubmittersRCV000537091RCV001026846RCV003322783RCV003999339RCV004568839

NM_000548.5(TSC2):c.828G>A (p.Met276Ile) SNV
Germline
Chr16:2057158 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394313332 rs_1318274503

5 SubmittersRCV000538015RCV001779000RCV002431636RCV003999342

NM_000548.5(TSC2):c.4703C>G (p.Ser1568Cys) SNV
Germline
Chr16:2086233 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394307306 rs_1555516036

5 SubmittersRCV000532722RCV001022928RCV004568836RCV006550408

NM_000548.5(TSC2):c.925C>T (p.Leu309Phe) SNV
Germline
Chr16:2058823 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394315433 rs_1258567486

7 SubmittersRCV000528235RCV001019094RCV001355181RCV003999343

NM_000548.5(TSC2):c.976-10C>T SNV
Germline
Chr16:2060660 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056787 rs_765990217

5 SubmittersRCV000554329RCV001566191RCV003999345

NM_000548.5(TSC2):c.976-9G>A SNV
Germline
Chr16:2060661 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276776556 rs_367613848

3 SubmittersRCV000530490RCV002256377

NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) SNV
Germline
Chr16:2062556 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394322307 rs_777457815

7 SubmittersRCV000539682RCV000562035RCV003236813RCV003459238RCV003999248

NM_000548.5(TSC2):c.5177A>C (p.His1726Pro) SNV
Germline
Chr16:2088243 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394314050 rs_1555440475

7 SubmittersRCV000549406RCV000573694RCV004538002RCV003999326RCV004592581RCV004568838

NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val) SNV
Germline
Chr16:2088269 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA054409 rs_781407050

6 SubmittersRCV000550602RCV000604770RCV002341373RCV003999327RCV004538003

NM_000548.5(TSC2):c.4176G>A (p.Gln1392=) SNV
Germline
Chr16:2084398 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050602 rs_749930791

7 SubmittersRCV000547824RCV001021991RCV001549763RCV006550403

NM_000548.5(TSC2):c.1353A>G (p.Arg451=) SNV
Germline
Chr16:2062592 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492962519 rs_1555501456

3 SubmittersRCV000558150RCV005018939RCV005286121

NM_000548.5(TSC2):c.1513C>G (p.Arg505Gly) SNV
Germline
Chr16:2064341 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA394326162 rs_45517179

5 SubmittersRCV000543764RCV002256373RCV003999254RCV005018941

NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val) SNV
Germline
Chr16:2088485 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054998 rs_1051758

6 SubmittersRCV000547303RCV000570898RCV003403303RCV005010511RCV006554550

NM_000548.5(TSC2):c.4225C>G (p.Arg1409Gly) SNV
Germline
Chr16:2084447 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276753368 rs_45517333

8 SubmittersRCV000540815RCV001672838RCV002330897RCV003999309RCV005018950

NM_000548.5(TSC2):c.4250G>A (p.Arg1417Gln) SNV
Germline
Chr16:2084472 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA394300437 rs_1343536158

4 SubmittersRCV000524756RCV002330898RCV003999310RCV004735616

NM_000548.5(TSC2):c.5320A>G (p.Ser1774Gly) SNV
Germline
Chr16:2088506 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA055089 rs_368083145

6 SubmittersRCV000535476RCV001821554RCV002350300RCV004802171RCV005641683

NM_000548.5(TSC2):c.1629G>A (p.Pro543=) SNV
Germline
Chr16:2065548 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Lung cancer
Criteria Provided
Conflicting Classifications
CA031881 rs_750309571

5 SubmittersRCV000553965RCV002404475RCV004760574RCV004802162RCV005896826

NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg) SNV
Germline
Chr16:2084495 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA050746 rs_763497329

7 SubmittersRCV000554219RCV001022193RCV001532308

NM_000548.5(TSC2):c.4273G>C (p.Gly1425Arg) SNV
Germline
Chr16:2084495 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394300730 rs_763497329

5 SubmittersRCV000530101RCV002330899RCV003318590RCV006550404

NM_000548.5(TSC2):c.1690G>A (p.Val564Ile) SNV
Germline
Chr16:2065609 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA032290 rs_147072281

3 SubmittersRCV000552124RCV002404476RCV003999256

NM_000548.5(TSC2):c.4332C>G (p.Pro1444=) SNV
Germline
Chr16:2084554 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050874 rs_373973956

4 SubmittersRCV000556922RCV002330902RCV006550405

NM_000548.5(TSC2):c.4351C>A (p.Arg1451Ser) SNV
Germline
Chr16:2084573 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
not specified
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050936 rs_369553241

7 SubmittersRCV000557731RCV001022338RCV004527648RCV005407722RCV006260191RCV003999314

NM_000548.5(TSC2):c.4368C>T (p.Leu1456=) SNV
Germline
Chr16:2084590 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493043491 rs_1555514397

4 SubmittersRCV000526904RCV002257814

NM_000548.5(TSC2):c.1730C>T (p.Thr577Ile) SNV
Germline
Chr16:2070469 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033165 rs_770895919

8 SubmittersRCV000545413RCV001012884RCV005018942RCV004722897RCV004802163

NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu) SNV
Germline
Chr16:2084984 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394302842 rs_775919951

6 SubmittersRCV000535938RCV000568343RCV004808770RCV006550406

NM_000548.5(TSC2):c.1807A>G (p.Thr603Ala) SNV
Germline
Chr16:2070546 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272963 rs_876660140

3 SubmittersRCV000551645RCV005018943RCV005502829

NM_000548.5(TSC2):c.4569+2T>G SNV
Germline
Chr16:2085028 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394303139 rs_1555514984

1 SubmittersRCV000525267

NM_000548.5(TSC2):c.4823A>G (p.Tyr1608Cys) SNV
Germline
Chr16:2086353 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA052633 rs_759795928

3 SubmittersRCV000547996RCV002330908RCV005628826

NM_000548.5(TSC2):c.1839G>C (p.Gln613His) SNV
Germline
Chr16:2070578 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394273020 rs_1555505208

1 SubmittersRCV000532879

NM_000548.5(TSC2):c.2311A>T (p.Thr771Ser) SNV
Germline
Chr16:2072939 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394276625 rs_1555506986

3 SubmittersRCV000529435RCV002448718RCV006550386

NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys) SNV
Germline
Chr16:2074239 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394277095 rs_1366556255

5 SubmittersRCV000536678RCV001015392RCV001755846RCV004802164

NM_000548.5(TSC2):c.2446C>G (p.Pro816Ala) SNV
Germline
Chr16:2074290 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394277438 rs_760265207

2 SubmittersRCV000550605RCV004948423

NM_000548.5(TSC2):c.2467C>T (p.Leu823=) SNV
Germline
Chr16:2074311 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276740864 rs_554509064

8 SubmittersRCV000528082RCV001015631RCV001547772RCV003999271

NM_000548.5(TSC2):c.3030G>C (p.Gln1010His) SNV
Germline
Chr16:2079095 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394284019 rs_776658284

6 SubmittersRCV000532858RCV001764574RCV002438422RCV003999283

NM_000548.5(TSC2):c.3048A>G (p.Lys1016=) SNV
Germline
Chr16:2079113 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA493042736 rs_1555510299

4 SubmittersRCV000558039RCV002448721RCV004704076

NM_000548.5(TSC2):c.3293C>G (p.Pro1098Arg) SNV
Germline
Chr16:2079565 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA045581 rs_773545852

4 SubmittersRCV000544493RCV002316560RCV003999287

NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) SNV
Germline
Chr16:2079566 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA045602 rs_150126331

9 SubmittersRCV000552377RCV001019748RCV001116224RCV001553545

NM_000548.5(TSC2):c.3325C>G (p.Pro1109Ala) SNV
Germline
Chr16:2079597 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394286595 rs_1555510880

3 SubmittersRCV000533842RCV002291660RCV002323987

NM_000548.5(TSC2):c.3815-3C>G SNV
Germline
Chr16:2082433 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA658656513 rs_770054036

3 SubmittersRCV000532220RCV002367879RCV004772973

NM_000548.5(TSC2):c.4351C>G (p.Arg1451Gly) SNV
Germline
Chr16:2084573 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA050943 rs_369553241

5 SubmittersRCV000533905RCV001022339RCV003999315RCV005018951

NM_000548.5(TSC2):c.4508A>G (p.Gln1503Arg) SNV
Germline
Chr16:2084965 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394302741 rs_45516293

1 SubmittersRCV000546695

NM_000548.5(TSC2):c.4552A>G (p.Ile1518Val) SNV
Germline
Chr16:2085009 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA051585 rs_764903148

6 SubmittersRCV000548577RCV000571084RCV001546708RCV004701630

NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter) SNV
Germline
Chr16:2085231 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394304306 rs_1441428144

1 SubmittersRCV000542407

NM_000548.5(TSC2):c.4982C>A (p.Thr1661Asn) SNV
Germline
Chr16:2086864 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394309184 rs_776541842

2 SubmittersRCV000545542RCV004024053

NM_000548.5(TSC2):c.5338A>C (p.Thr1780Pro) SNV
Germline
Chr16:2088524 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA276760048 rs_989487316

5 SubmittersRCV000548829RCV000615984RCV002350301RCV004735618

NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) SNV
Germline
Chr9:132897277 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA034889 rs_760762170

4 SubmittersRCV000563196RCV000796947RCV002491142

NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) SNV
Germline
Chr9:132905759 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375363304 rs_1554815795

4 SubmittersRCV000575387RCV001853805RCV003228962RCV004001142

NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) SNV
Germline
Chr9:132896344 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036688 rs_772233665

5 SubmittersRCV000573969RCV000698607RCV005000325RCV004802243

NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu) SNV
Germline
Chr9:132896477 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375366847 rs_1442514678

6 SubmittersRCV000564766RCV001510606RCV003237944RCV006552419

NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) SNV
Germline
Chr9:132905651 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375362637 rs_1485955306

6 SubmittersRCV000566852RCV000808127RCV001770526RCV004001136

NM_000368.5(TSC1):c.518C>T (p.Ala173Val) SNV
Germline
Chr9:132921964 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037947 rs_777484049

8 SubmittersRCV000563590RCV000641975RCV000764814RCV003431131RCV006552417

NM_000368.5(TSC1):c.445C>G (p.Gln149Glu) SNV
Germline
Chr9:132923411 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375373395 rs_118203384

3 SubmittersRCV000564302RCV001308278

NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) SNV
Germline
Chr9:132896719 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA035603 rs_757370776

5 SubmittersRCV000574780RCV000605673RCV001068166RCV004568220

NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) SNV
Germline
Chr9:132896244 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA037138 rs_749746550

3 SubmittersRCV000574109RCV000689229

NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp) SNV
Germline
Chr9:132897514 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034396 rs_748845915

5 SubmittersRCV000574197RCV000641971RCV005000324RCV005402950

NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) SNV
Germline
Chr9:132896317 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA036822 rs_756449737

4 SubmittersRCV000574531RCV000602459RCV001205610

NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) SNV
Germline
Chr9:132921408 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375371402 rs_1322586198

6 SubmittersRCV000574390RCV000692073RCV000762584

NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly) SNV
Germline
Chr9:132896618 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA035829 rs_768443391

6 SubmittersRCV000565729RCV000642001RCV004001135RCV006260339

NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) SNV
Germline
Chr9:132896623 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA035815 rs_774196458

6 SubmittersRCV000564806RCV000642049RCV003237943RCV003945355

NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) SNV
Germline
Chr9:132923389 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA200901578 rs_893232039

7 SubmittersRCV000569391RCV000642000RCV001570618RCV004001132RCV004745487

NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser) SNV
Germline
Chr9:132905900 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029360 rs_746304922

7 SubmittersRCV000573925RCV000697288RCV003139872RCV006552409

NM_000368.5(TSC1):c.135G>A (p.Leu45=) SNV
Germline
Chr9:132927276 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028469 rs_149278759

8 SubmittersRCV000570929RCV000642009RCV000713904RCV004802242

NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) SNV
Germline
Chr9:132928830 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375375386 rs_1554821020

7 SubmittersRCV000561767RCV000697551RCV004001133RCV004721462

NM_000548.5(TSC2):c.375G>C (p.Lys125Asn) SNV
Germline
Chr16:2054334 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048320 rs_778928295

5 SubmittersRCV000561673RCV001295259RCV006552429

NM_000548.5(TSC2):c.695C>T (p.Pro232Leu) SNV
Germline
Chr16:2056690 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA056163 rs_760100924

7 SubmittersRCV000575507RCV000686831RCV001115886RCV001538849

NM_000548.5(TSC2):c.499T>C (p.Trp167Arg) SNV
Germline
Chr16:2055419 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394309132 rs_1555498118

6 SubmittersRCV000574722RCV000644193RCV004001156RCV004568221RCV005869640

NM_000548.5(TSC2):c.1947G>A (p.Met649Ile) SNV
Germline
Chr16:2071784 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035244 rs_775845436

5 SubmittersRCV000561184RCV001202543RCV004802244

NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys) SNV
Germline
Chr16:2057151 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394313259 rs_1305592691

5 SubmittersRCV000567862RCV001035509RCV002291670RCV005018972

NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg) SNV
Germline
Chr16:2060746 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028047 rs_748109163

5 SubmittersRCV000564908RCV000802991RCV004802249

NM_000548.5(TSC2):c.1120-5T>C SNV
Germline
Chr16:2061866 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA658658350 rs_896351318

2 SubmittersRCV000562514RCV002060415

NM_000548.5(TSC2):c.1154A>G (p.His385Arg) SNV
Germline
Chr16:2061905 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA028650 rs_757353933

6 SubmittersRCV000570261RCV001054845RCV004001174RCV005019000

NM_000548.5(TSC2):c.1187A>T (p.Asp396Val) SNV
Germline
Chr16:2061938 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394320618 rs_1365616275

6 SubmittersRCV000568241RCV000644079RCV004001164RCV004568223

NM_000548.5(TSC2):c.1654G>A (p.Ala552Thr) SNV
Germline
Chr16:2065573 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394268001 rs_777121421

4 SubmittersRCV000572824RCV000804218RCV001509505

NM_000548.5(TSC2):c.1689C>T (p.Ala563=) SNV
Germline
Chr16:2065608 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA032258 rs_779858018

10 SubmittersRCV000571328RCV000989420RCV001119050RCV004530623

NM_000548.5(TSC2):c.2966+5C>T SNV
Germline
Chr16:2077731 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043312 rs_767328300

4 SubmittersRCV000568857RCV000644213RCV006552422

NM_000548.5(TSC2):c.2221-5A>G SNV
Germline
Chr16:2072844 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA658658375 rs_1555506829

4 SubmittersRCV000571957RCV001504142

NM_000548.5(TSC2):c.3317A>T (p.Lys1106Met) SNV
Germline
Chr16:2079589 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA045694 rs_764113584

2 SubmittersRCV000562552RCV001853809

NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) SNV
Germline
Chr16:2080288 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047301 rs_368666554

9 SubmittersRCV000573474RCV000644372RCV001722537RCV004001154

NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu) SNV
Germline
Chr16:2075874 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276741554 rs_138527121

5 SubmittersRCV000571394RCV001047205RCV004001160

NM_000548.5(TSC2):c.2780C>T (p.Thr927Ile) SNV
Germline
Chr16:2076528 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394279934 rs_144329595

4 SubmittersRCV000562822RCV001049308RCV004001145

NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) SNV
Germline
Chr16:2081786 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276750224 rs_1020561347

8 SubmittersRCV000571806RCV000706819RCV002266988RCV002491143RCV004001158

NM_000548.5(TSC2):c.2926C>A (p.Arg976=) SNV
Germline
Chr16:2077686 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492954949 rs_769527912

4 SubmittersRCV000572155RCV001396342RCV005000326

NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) SNV
Germline
Chr16:2084552 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394301394 rs_1459518095

7 SubmittersRCV000574628RCV000706031RCV004760624RCV005401500

NM_000548.5(TSC2):c.3413G>C (p.Arg1138Pro) SNV
Germline
Chr16:2080180 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394288450 rs_143168379

5 SubmittersRCV000567063RCV000806032RCV004802246

NM_000548.5(TSC2):c.97G>A (p.Gly33Ser) SNV
Germline
Chr16:2048712 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA056868 rs_370230541

3 SubmittersRCV000563255RCV000644191

NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) SNV
Germline
Chr16:2087914 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394311437 rs_1200837034

5 SubmittersRCV000567505RCV001065808RCV001764691RCV003465277

NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu) SNV
Germline
Chr16:2084259 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050248 rs_45517326

5 SubmittersRCV000561137RCV000685152RCV004001147

NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) SNV
Germline
Chr16:2084478 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050713 rs_562443546

7 SubmittersRCV000568648RCV000644236RCV001558891RCV002476253RCV006552427

NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=) SNV
Germline
Chr16:2086832 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492959990 rs_1283177454

6 SubmittersRCV000566510RCV001393490RCV006552423

NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro) SNV
Germline
Chr16:2088458 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394315130 rs_1555441169

5 SubmittersRCV000569715RCV001327371RCV002260649RCV004802248

NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) SNV
Germline
Chr16:2088497 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA055040 rs_777006583

5 SubmittersRCV000561599RCV000609138RCV000798867RCV003736826

NM_000548.5(TSC2):c.3447C>A (p.Phe1149Leu) SNV
Germline
Chr16:2080214 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394288751 rs_1265832990

3 SubmittersRCV000574125RCV000824603

NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) SNV
Germline
Chr16:2083769 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Ovarian cancer
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA049761 rs_767495365

11 SubmittersRCV000573012RCV000644391RCV001722536RCV003230549RCV003153748RCV004001153

NM_000548.5(TSC2):c.4057G>A (p.Val1353Ile) SNV
Germline
Chr16:2084279 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050315 rs_373982157

6 SubmittersRCV000563553RCV000983892RCV003392417RCV004001165

NM_000548.5(TSC2):c.4470G>T (p.Glu1490Asp) SNV
Germline
Chr16:2084692 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394302508 rs_1221986548

2 SubmittersRCV000565264RCV001859982

NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) SNV
Germline
Chr16:2088491 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394315380 rs_1555441265

6 SubmittersRCV000563385RCV000644196RCV004802245RCV005018999

NM_000548.5(TSC2):c.101A>G (p.Lys34Arg) SNV
Germline
Chr16:2048716 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA027990 rs_777988634

2 SubmittersRCV000570293RCV002530345

NM_000548.5(TSC2):c.1675G>T (p.Asp559Tyr) SNV
Germline
Chr16:2065594 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394270458 rs_1555503254

4 SubmittersRCV000564291RCV001347232RCV001786404

NM_000548.5(TSC2):c.1828A>G (p.Ile610Val) SNV
Germline
Chr16:2070567 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394273002 rs_1285778253

5 SubmittersRCV000570537RCV001369719RCV003459405RCV006552420

NM_000548.5(TSC2):c.2027G>T (p.Gly676Val) SNV
Germline
Chr16:2071864 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035845 rs_754556513

6 SubmittersRCV000566288RCV000693999RCV001840684RCV004001151

NM_000548.5(TSC2):c.4398G>T (p.Ser1466=) SNV
Germline
Chr16:2084620 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051031 rs_376086638

5 SubmittersRCV000565861RCV000874886RCV001429119RCV004001172

NM_000548.5(TSC2):c.5296C>T (p.Pro1766Ser) SNV
Germline
Chr16:2088482 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA054989 rs_779621136

4 SubmittersRCV000569459RCV000702221RCV001532311

NM_000548.5(TSC2):c.*4C>T SNV
Germline
Chr16:2088614 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
not specified
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA053458 rs_368282661

10 SubmittersRCV000562957RCV001121427RCV001591342RCV001779015RCV001797753RCV004530622

NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter) SNV
Germline
Chr9:132902616 Pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375359090 rs_781371665

4 SubmittersRCV000579359RCV001853844

NM_000548.5(TSC2):c.1443+5G>C SNV
Germline
Chr16:2063058 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA658683908 rs_1057521562

3 SubmittersRCV000579379RCV000644207RCV005865353

NM_000548.5(TSC2):c.4372C>A (p.Pro1458Thr) SNV
Germline
Chr16:2084594 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394301760 rs_1189784704

6 SubmittersRCV000592461RCV001084298RCV002331007RCV006552449

NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter) SNV
Germline/somatic
Chr9:132902781 Pathogenic Condition: not provided
Tuberous sclerosis 1
Malignant tumor of urinary bladder
Criteria Provided
Multiple Submitters
No Conflicts
CA375360120 rs_1554815054

5 SubmittersRCV000592666RCV001387999RCV003332210

NM_000548.5(TSC2):c.1308G>T (p.Pro436=) SNV
Germline
Chr16:2062547 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029292 rs_753764275

6 SubmittersRCV000594395RCV001010910RCV001442150RCV006552453

NM_000548.5(TSC2):c.1122C>G (p.Thr374=) SNV
Germline
Chr16:2061873 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492961647 rs_1555500988

4 SubmittersRCV000594602RCV003512063RCV005749595

NM_000368.5(TSC1):c.1030-14T>A SNV
Germline
Chr9:132911127 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA026841 rs_180810228

7 SubmittersRCV000598740RCV002062114RCV004002473

NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) SNV
Germline
Chr9:132897235 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035074 rs_549467159

8 SubmittersRCV000606735RCV000870405RCV001017513RCV001531749RCV006552464

NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu) SNV
Germline
Chr9:132905776 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA029825 rs_543077026

4 SubmittersRCV000606429RCV000641985RCV001013234

NM_000548.5(TSC2):c.139-15T>G SNV
Germline
Chr16:2050385 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029945 rs_563094714

5 SubmittersRCV000600709RCV002066812RCV004002621

NM_000548.5(TSC2):c.1342C>G (p.Leu448Val) SNV
Germline
Chr16:2062581 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394322581 rs_1413875392

7 SubmittersRCV000644119RCV001010952RCV001719001RCV004002563

NM_000548.5(TSC2):c.2355+5G>A SNV
Germline
Chr16:2072988 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Colorectal cancer
Criteria Provided
Conflicting Classifications
CA038638 rs_756995937

9 SubmittersRCV000604942RCV000685351RCV001015127RCV004544767RCV006552491RCV005899956

NM_000548.5(TSC2):c.4570-3C>T SNV
Germline
Chr16:2085227 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA620379499 rs_1166715944

5 SubmittersRCV000607674RCV001047763

NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) SNV
Germline
Chr16:2088522 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA055149 rs_748947919

8 SubmittersRCV000604792RCV000644420RCV002258972RCV005638514

NM_000548.5(TSC2):c.1361+13C>T SNV
Germline
Chr16:2062613 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276777862 rs_900870796

4 SubmittersRCV000613228RCV001115996RCV001797762

NM_000548.5(TSC2):c.2355+6A>T SNV
Germline
Chr16:2072989 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276740089 rs_904030973

6 SubmittersRCV000611813RCV000704516RCV004002513

NM_000548.5(TSC2):c.3639G>A (p.Glu1213=) SNV
Germline
Chr16:2081623 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA047924 rs_747862818

6 SubmittersRCV000609353RCV000644279RCV002456326RCV005000375

NM_000548.5(TSC2):c.4992C>T (p.Gly1664=) SNV
Germline
Chr16:2087865 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276758489 rs_145002269

6 SubmittersRCV000612064RCV001294927RCV002256413

NM_000548.5(TSC2):c.336+14C>T SNV
Germline
Chr16:2053466 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Condition: not provided
Cervical cancer
Criteria Provided
Conflicting Classifications
CA045804 rs_570065416

6 SubmittersRCV000610912RCV001797761RCV002263824RCV005899928

NM_000548.5(TSC2):c.619G>A (p.Val207Ile) SNV
Germline
Chr16:2056215 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Criteria Provided
Conflicting Classifications
CA055776 rs_139929314

7 SubmittersRCV000729897RCV001024992RCV001087306RCV002469218

NM_000548.5(TSC2):c.1775G>A (p.Ser592Asn) SNV
Germline
Chr16:2070514 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033474 rs_374371998

7 SubmittersRCV000615980RCV000688126RCV002404637RCV004002515

NM_000548.5(TSC2):c.5161-12C>G SNV
Germline
Chr16:2088215 Conflicting classifications of pathogenicity not specified
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA658798498 rs_1555440351

4 SubmittersRCV000611021RCV001868067RCV004002580

NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) SNV
Germline
Chr9:132896275 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375366342 rs_1554812543

6 SubmittersRCV000642027RCV001548709RCV002256433RCV005049629

NM_000368.5(TSC1):c.1539A>G (p.Pro513=) SNV
Germline
Chr9:132906039 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA028984 rs_755055358

5 SubmittersRCV000642067RCV004003974RCV004025638RCV005231219

NM_000368.5(TSC1):c.1332A>C (p.Ser444=) SNV
Germline
Chr9:132907302 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467592067 rs_773003016

6 SubmittersRCV000642029RCV001771878RCV004003965RCV004025636

NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) SNV
Germline
Chr9:132910584 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366761 rs_77464996

4 SubmittersRCV000642010RCV001771876RCV002406392

NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala) SNV
Germline
Chr9:132911065 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA026993 rs_201738258

7 SubmittersRCV000642012RCV001538503RCV002422309RCV006552589

NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) SNV
Germline
Chr9:132921366 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038606 rs_755859330

5 SubmittersRCV000642080RCV001577881RCV002386066RCV004003977

NM_000368.5(TSC1):c.334C>T (p.Leu112Phe) SNV
Germline
Chr9:132925616 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA375374393 rs_1554820276

3 SubmittersRCV000642047RCV003162894RCV005601064

NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) SNV
Germline
Chr9:132927302 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375375235 rs_1309560054

6 SubmittersRCV000641995RCV001771875RCV002458064RCV004003956

NM_000368.5(TSC1):c.28C>T (p.Leu10Phe) SNV
Germline
Chr9:132928845 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375375415 rs_1399717425

4 SubmittersRCV000642023RCV001771877RCV005298559

NM_000368.5(TSC1):c.2934T>C (p.Leu978=) SNV
Germline
Chr9:132897225 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467594406 rs_1554813253

5 SubmittersRCV000642072RCV001017567RCV005000436

NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) SNV
Germline
Chr9:132897513 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034413 rs_780115763

4 SubmittersRCV000642018RCV002424445RCV004003960

NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) SNV
Germline
Chr9:132912293 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375369019 rs_1389512342

3 SubmittersRCV000642046RCV002369687RCV004003969

NM_000368.5(TSC1):c.751G>T (p.Glu251Ter) SNV
Germline
Chr9:132912444 Pathogenic Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375369695 rs_1554817691

2 SubmittersRCV000641998RCV003117449

NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) SNV
Germline
Chr9:132927277 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375375186 rs_1554820662

4 SubmittersRCV000642007RCV003432681

NM_000368.5(TSC1):c.73G>A (p.Val25Met) SNV
Germline
Chr9:132928800 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA375375324 rs_1230244328

8 SubmittersRCV000642002RCV001026391RCV001551730RCV004003957RCV004745525

NM_000368.5(TSC1):c.3402C>T (p.Asn1134=) SNV
Germline
Chr9:132896328 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036759 rs_769266225

5 SubmittersRCV000642073RCV002458066RCV004003976

NM_000368.5(TSC1):c.3120C>T (p.Ser1040=) SNV
Germline
Chr9:132896610 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467812833 rs_1289954163

4 SubmittersRCV000642077RCV002325255RCV006250824

NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) SNV
Germline
Chr9:132901642 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375358553 rs_1554814652

5 SubmittersRCV000641969RCV002284415RCV002499080RCV004568423RCV004025632

NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) SNV
Germline
Chr9:132905644 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375362586 rs_1269162063

6 SubmittersRCV001013644RCV001554285RCV001496179

NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln) SNV
Germline
Chr9:132905690 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375362903 rs_1158059433

3 SubmittersRCV000642048RCV001013563

NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) SNV
Germline
Chr9:132905807 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375363652 rs_1429666367

4 SubmittersRCV000641965RCV002397230RCV003126889RCV004003952

NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe) SNV
Germline
Chr9:132906007 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375365031 rs_1276296733

4 SubmittersRCV000641984RCV001012234RCV006552586

NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) SNV
Germline
Chr9:132910578 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200893788 rs_878853959

7 SubmittersRCV000641994RCV001766381RCV002257896RCV004568424RCV006552588

NM_000368.5(TSC1):c.670A>T (p.Met224Leu) SNV
Germline
Chr9:132921430 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200900992 rs_535397245

5 SubmittersRCV000641970RCV001025559RCV002477414RCV004723021

NM_000368.5(TSC1):c.460T>A (p.Phe154Ile) SNV
Germline
Chr9:132923396 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375373321 rs_1485129708

3 SubmittersRCV000642014RCV001022780

NM_000368.5(TSC1):c.370A>G (p.Thr124Ala) SNV
Germline
Chr9:132923486 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037338 rs_745871522

5 SubmittersRCV000642038RCV001584479RCV002343282RCV004003966

NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) SNV
Germline
Chr9:132896296 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037070 rs_767904247

5 SubmittersRCV000642019RCV001020300RCV004003961

NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg) SNV
Germline
Chr9:132897292 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375368832 rs_1212768461

4 SubmittersRCV000642040RCV002440290RCV003313121RCV006552590

NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter) SNV
Germline
Chr9:132910626 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375366947 rs_118203504

1 SubmittersRCV000642033

NM_000368.5(TSC1):c.792G>A (p.Leu264=) SNV
Germline
Chr9:132912403 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA467593591 rs_1257538409

7 SubmittersRCV000642028RCV002257897RCV004692008RCV004802325

NM_000368.5(TSC1):c.289A>G (p.Ile97Val) SNV
Germline
Chr9:132925661 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034962 rs_138541569

5 SubmittersRCV000642054RCV001016847RCV004003971

NM_000368.5(TSC1):c.106+5G>A SNV
Germline
Chr9:132928762 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA658797333 rs_1554820973

3 SubmittersRCV000641966RCV003162893RCV004003953

NM_000368.5(TSC1):c.106+2T>C SNV
Germline
Chr9:132928765 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375246 rs_1554820976

1 SubmittersRCV000642031

NM_000548.5(TSC2):c.98G>A (p.Gly33Asp) SNV
Germline
Chr16:2048713 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394301452 rs_1352220583

3 SubmittersRCV000644123RCV002386073RCV004003998

NM_000548.5(TSC2):c.131T>C (p.Ile44Thr) SNV
Germline
Chr16:2048746 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394301782 rs_1190102918

7 SubmittersRCV000644150RCV001010984RCV004777795RCV006552598

NM_000548.5(TSC2):c.585C>T (p.Ile195=) SNV
Germline
Chr16:2055505 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA055446 rs_397515309

6 SubmittersRCV000644401RCV002358837RCV002499098RCV004004049RCV006270414

NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) SNV
Germline
Chr16:2056738 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA056283 rs_762104739

6 SubmittersRCV000644409RCV001026437RCV003328614

NM_000548.5(TSC2):c.74G>A (p.Arg25Lys) SNV
Germline
Chr16:2048689 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA056318 rs_759867905

2 SubmittersRCV000644165RCV002388092

NM_000548.5(TSC2):c.199G>A (p.Val67Ile) SNV
Germline
Chr16:2050460 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA035477 rs_774506901

4 SubmittersRCV000644157RCV002422324RCV004004003RCV004808820

NM_000548.5(TSC2):c.1643G>C (p.Arg548Thr) SNV
Germline
Chr16:2065562 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276731085 rs_748938385

6 SubmittersRCV000644074RCV001012511RCV004527705RCV004003987RCV005256660

NM_000548.5(TSC2):c.1823G>C (p.Ser608Thr) SNV
Germline
Chr16:2070562 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033723 rs_753235037

4 SubmittersRCV000644072RCV001013270RCV004003986

NM_000548.5(TSC2):c.385G>T (p.Asp129Tyr) SNV
Germline
Chr16:2054344 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048912 rs_771961048

4 SubmittersRCV000644250RCV002358834RCV006552603

NM_000548.5(TSC2):c.2020C>T (p.Pro674Ser) SNV
Germline
Chr16:2071857 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035778 rs_760566516

5 SubmittersRCV000644209RCV002255485RCV004004014

NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) SNV
Germline
Chr16:2071860 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276737715 rs_764840082

5 SubmittersRCV000644078RCV000765268RCV001014102RCV004003988

NM_000548.5(TSC2):c.864C>G (p.Asp288Glu) SNV
Germline
Chr16:2058762 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276775635 rs_780887572

4 SubmittersRCV000644160RCV002369704RCV004004005

NM_000548.5(TSC2):c.1304A>T (p.His435Leu) SNV
Germline
Chr16:2062543 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394322184 rs_1555501389

2 SubmittersRCV000644208RCV002386074

NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) SNV
Germline
Chr16:2072880 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA276740000 rs_749593050

8 SubmittersRCV000644106RCV000765269RCV001014943RCV001580527RCV004735702RCV005240378

NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) SNV
Germline
Chr16:2065544 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA031818 rs_764191178

9 SubmittersRCV000644187RCV001771884RCV002397241RCV003459537RCV004004012RCV004544866RCV005019074

NM_000548.5(TSC2):c.1651G>T (p.Ala551Ser) SNV
Germline
Chr16:2065570 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA031983 rs_149877669

2 SubmittersRCV000644177RCV006287216

NM_000548.5(TSC2):c.2854C>T (p.Pro952Ser) SNV
Germline
Chr16:2077614 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042455 rs_745456980

4 SubmittersRCV000644203RCV002440302RCV005019075RCV006552602

NM_000548.5(TSC2):c.1759T>C (p.Tyr587His) SNV
Germline
Chr16:2070498 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394272833 rs_1555505094

3 SubmittersRCV000644100RCV002397240RCV004003993

NM_000548.5(TSC2):c.1964C>T (p.Ser655Phe) SNV
Germline
Chr16:2071801 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394273620 rs_1442388532

2 SubmittersRCV000644259RCV005298561

NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) SNV
Germline
Chr16:2071849 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035599 rs_775881847

6 SubmittersRCV000644122RCV001014079RCV002499096RCV004802332

NM_000548.5(TSC2):c.3467C>T (p.Pro1156Leu) SNV
Germline
Chr16:2080234 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046958 rs_144126969

4 SubmittersRCV000644147RCV002285386RCV002460101RCV004004002

NM_000548.5(TSC2):c.2097+5G>C SNV
Germline
Chr16:2071939 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276737905 rs_977777731

6 SubmittersRCV000644073RCV001014417RCV003327437RCV005019069RCV006552596

NM_000548.5(TSC2):c.2137C>T (p.Leu713=) SNV
Germline
Chr16:2072280 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA493042672 rs_1555506453

3 SubmittersRCV000644278RCV003162917RCV006260938

NM_000548.5(TSC2):c.2221-6C>T SNV
Germline
Chr16:2072843 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA658798491 rs_1555506823

3 SubmittersRCV001463963RCV002257899

NM_000548.5(TSC2):c.2245C>T (p.Arg749Trp) SNV
Germline
Chr16:2072873 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037721 rs_377397369

6 SubmittersRCV000644353RCV001558093RCV002422327RCV004004042

NM_000548.5(TSC2):c.3814+5G>A SNV
Germline
Chr16:2081803 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA658798471 rs_1555512582

4 SubmittersRCV000644087RCV003303039RCV004003990RCV005019070

NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg) SNV
Germline
Chr16:2082472 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276750917 rs_944693159

5 SubmittersRCV000644199RCV002493023RCV002358833RCV004802335

NM_000548.5(TSC2):c.3985C>T (p.Arg1329Cys) SNV
Germline
Chr16:2083796 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA049839 rs_747695245

5 SubmittersRCV000644155RCV001021583RCV004735704RCV006552600

NM_000548.5(TSC2):c.4040T>C (p.Leu1347Pro) SNV
Germline
Chr16:2084262 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394299288 rs_1221929408

3 SubmittersRCV000644212RCV002325262RCV004808821

NM_000548.5(TSC2):c.2825A>G (p.Glu942Gly) SNV
Germline
Chr16:2076573 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276742132 rs_1018951391

4 SubmittersRCV000644215RCV001016700RCV004802336

NM_000548.5(TSC2):c.3285-5C>T SNV
Germline
Chr16:2079552 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA620377851 rs_1444989940

4 SubmittersRCV000644273RCV002449028RCV004004027

NM_000548.5(TSC2):c.4369C>T (p.Arg1457Trp) SNV
Germline
Chr16:2084591 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA051001 rs_746729857

3 SubmittersRCV000644088RCV002483857RCV005502858

NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn) SNV
Germline
Chr16:2084654 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Vascular dementia
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394302242 rs_45517343

4 SubmittersRCV000644237RCV002051724RCV002331192RCV004004022

NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) SNV
Germline
Chr16:2084291 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394299395 rs_1555513920

7 SubmittersRCV000644244RCV002260653RCV002325264RCV004004024

NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys) SNV
Germline
Chr16:2084300 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050377 rs_397514997

6 SubmittersRCV000644152RCV003162911RCV006552599

NM_000548.5(TSC2):c.4506G>A (p.Leu1502=) SNV
Germline
Chr16:2084963 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493043362 rs_1555514870

5 SubmittersRCV001442159RCV004773065RCV005298562RCV006552611

NM_000548.5(TSC2):c.4864G>A (p.Ala1622Thr) SNV
Germline
Chr16:2086746 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA052965 rs_769913589

6 SubmittersRCV000644406RCV001023169RCV004004050

NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn) SNV
Germline
Chr16:2087941 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA394311729 rs_137854882

2 SubmittersRCV000644178

NM_000548.5(TSC2):c.5076G>C (p.Glu1692Asp) SNV
Germline
Chr16:2088055 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394311952 rs_1358186613

3 SubmittersRCV000644156RCV001023500

NM_000548.5(TSC2):c.5119A>C (p.Asn1707His) SNV
Germline
Chr16:2088098 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394312361 rs_1300582033

3 SubmittersRCV000644060RCV002343302RCV003465404

NM_000548.5(TSC2):c.5176C>T (p.His1726Tyr) SNV
Germline
Chr16:2088242 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA054330 rs_761618860

2 SubmittersRCV000644161RCV002334132

NM_000548.5(TSC2):c.4362T>G (p.Ser1454Arg) SNV
Germline
Chr16:2084584 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA394301688 rs_1320400029

4 SubmittersRCV000644067RCV002256435RCV003153783

NM_000548.5(TSC2):c.4403C>T (p.Pro1468Leu) SNV
Germline
Chr16:2084625 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA051050 rs_762423563

2 SubmittersRCV000644171RCV002331190

NM_000548.5(TSC2):c.5264G>T (p.Cys1755Phe) SNV
Germline
Chr16:2088450 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394315042 rs_761162904

3 SubmittersRCV000644184RCV002334133RCV006260936

NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val) SNV
Germline
Chr16:2088462 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054932 rs_45477298

6 SubmittersRCV001023842RCV001513329RCV004004052

NM_000548.5(TSC2):c.4585C>T (p.Arg1529Trp) SNV
Germline
Chr16:2085245 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276754888 rs_1051502900

4 SubmittersRCV000644320RCV002334136RCV004004037

NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) SNV
Germline
Chr16:2086208 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA052272 rs_777539610

8 SubmittersRCV000644117RCV001022882RCV001766382RCV003153784RCV004003996RCV004568427

NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) SNV
Germline
Chr16:2087897 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394311256 rs_45483392

4 SubmittersRCV000644091RCV000984876RCV005000444

NM_000548.5(TSC2):c.5246G>A (p.Arg1749Gln) SNV
Germline
Chr16:2088312 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394314713 rs_1555440785

4 SubmittersRCV000644233RCV002343306RCV004004021RCV005019078

NM_000548.5(TSC2):c.169C>T (p.Arg57Cys) SNV
Germline
Chr16:2050430 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394303257 rs_1430159201

4 SubmittersRCV000644128RCV001012687RCV002307571

NM_000548.5(TSC2):c.5297C>T (p.Pro1766Leu) SNV
Germline
Chr16:2088483 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA276759930 rs_748936673

8 SubmittersRCV000644107RCV001568107RCV002343304RCV004003995RCV005019071

NM_000548.5(TSC2):c.475G>T (p.Glu159Ter) SNV
Germline
Chr16:2054434 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308572 rs_1555497714

1 SubmittersRCV000644141

NM_000548.5(TSC2):c.1015G>A (p.Val339Ile) SNV
Germline
Chr16:2060709 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276776626 rs_559727962

7 SubmittersRCV000644222RCV001017006RCV004533366RCV004004017RCV006260937

NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln) SNV
Germline
Chr16:2060790 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276776700 rs_45517148

5 SubmittersRCV000644146RCV002282288RCV002424465RCV002483858RCV004004001

NM_000548.5(TSC2):c.2668C>T (p.His890Tyr) SNV
Germline
Chr16:2076096 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA040850 rs_145258407

6 SubmittersRCV000644267RCV001016255RCV002264970RCV004004025

NM_000548.5(TSC2):c.2674G>A (p.Val892Ile) SNV
Germline
Chr16:2076102 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276741706 rs_376801256

4 SubmittersRCV000644069RCV002424462RCV004003985

NM_000548.5(TSC2):c.2742+3G>A SNV
Germline
Chr16:2076173 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA041345 rs_373935836

5 SubmittersRCV000644071RCV001016464RCV005401549

NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) SNV
Germline
Chr16:2079384 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA044925 rs_371514669

7 SubmittersRCV000644134RCV002449026RCV003128676RCV004003999RCV006268913

NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) SNV
Germline
Chr16:2079652 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA046441 rs_746197874

6 SubmittersRCV000644263RCV000765272RCV001020148RCV003222074

NM_000548.5(TSC2):c.3809A>G (p.Asn1270Ser) SNV
Germline
Chr16:2081793 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394293642 rs_1304251276

4 SubmittersRCV000644144RCV002358832RCV004004000

NM_000548.5(TSC2):c.4249C>T (p.Arg1417Trp) SNV
Germline
Chr16:2084471 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA050704 rs_774338461

4 SubmittersRCV000644231RCV002331191RCV004773064RCV005019077

NM_000548.5(TSC2):c.4520C>A (p.Ser1507Tyr) SNV
Germline
Chr16:2084977 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051496 rs_746246149

5 SubmittersRCV000644095RCV002331186RCV004003991

NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) SNV
Germline
Chr16:2085281 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA276754962 rs_796872464

8 SubmittersRCV000644241RCV001022800RCV003225106RCV003465408RCV004004023RCV004533367

NM_000548.5(TSC2):c.4861A>T (p.Ile1621Phe) SNV
Germline
Chr16:2086743 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394308263 rs_1555516628

2 SubmittersRCV000644202RCV006287218

NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn) SNV
Germline
Chr16:2088266 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA054398 rs_751990617

6 SubmittersRCV000644311RCV001023719RCV003456111RCV004735705

NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) SNV
Germline
Chr16:2088320 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394314782 rs_45517414

5 SubmittersRCV000644101RCV002334131RCV003459535RCV004003994RCV005639168

NM_000548.5(TSC2):c.205A>G (p.Lys69Glu) SNV
Germline
Chr16:2050466 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA036103 rs_45517095

2 SubmittersRCV000644149RCV003303040

NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) SNV
Germline
Chr16:2088599 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA055360 rs_376017665

8 SubmittersRCV000644386RCV001024065RCV001119439RCV004533370

NM_000548.5(TSC2):c.336+1G>C SNV
Germline
Chr16:2053453 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394306095 rs_45517102

1 SubmittersRCV000644166

NM_000548.5(TSC2):c.440C>A (p.Thr147Lys) SNV
Germline
Chr16:2054399 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308347 rs_1555497690

1 SubmittersRCV000644114

NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys) SNV
Germline
Chr16:2054423 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA052014 rs_755177576

5 SubmittersRCV000644170RCV001022839RCV004004007RCV005416379

NM_000548.5(TSC2):c.484G>A (p.Asp162Asn) SNV
Germline
Chr16:2055404 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394309028 rs_1257721773

4 SubmittersRCV000644082RCV001023148RCV004003989

NM_000548.5(TSC2):c.775-5C>G SNV
Germline
Chr16:2057100 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA658798477 rs_181827303

3 SubmittersRCV000644330RCV002258986

NM_000548.5(TSC2):c.849-3T>C SNV
Germline
Chr16:2058744 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA658798478 rs_45489591

3 SubmittersRCV000644159RCV003162912

NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys) SNV
Germline
Chr16:2060701 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA027968 rs_780378198

5 SubmittersRCV000644115RCV002424464RCV004802330RCV004735703

NM_000548.5(TSC2):c.1739C>G (p.Ala580Gly) SNV
Germline
Chr16:2070478 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA033236 rs_765043471

3 SubmittersRCV000644096RCV002493022RCV004025654

NM_000548.5(TSC2):c.1914G>A (p.Val638=) SNV
Germline
Chr16:2071584 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276737342 rs_933464584

5 SubmittersRCV000644343RCV001013680RCV006552609

NM_000548.5(TSC2):c.1946+9G>T SNV
Germline
Chr16:2071625 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA620705991 rs_1470276886

3 SubmittersRCV000644139RCV003465407RCV005019073

NM_000548.5(TSC2):c.1993C>G (p.Pro665Ala) SNV
Germline
Chr16:2071830 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394274414 rs_1184908674

7 SubmittersRCV000644337RCV001013956RCV004802337RCV006260939

NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) SNV
Germline
Chr16:2071876 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394274563 rs_756536921

7 SubmittersRCV000644230RCV001014160RCV002282289RCV003459538RCV004004020

NM_000548.5(TSC2):c.2297T>C (p.Val766Ala) SNV
Germline
Chr16:2072925 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038262 rs_780682938

7 SubmittersRCV000644214RCV001087283RCV002449027RCV004004015

NM_000548.5(TSC2):c.2838-3T>C SNV
Germline
Chr16:2077595 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA042338 rs_553942147

8 SubmittersRCV000644347RCV002256437RCV004004040RCV005000446

NM_000548.5(TSC2):c.3131+3C>A SNV
Germline
Chr16:2079199 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA620704907 rs_1420280878

6 SubmittersRCV000644116RCV002325261RCV004525994RCV005000445RCV006552597

NM_000548.5(TSC2):c.3286T>C (p.Ser1096Pro) SNV
Germline
Chr16:2079558 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA045529 rs_755815612

4 SubmittersRCV000644065RCV002449025RCV004003984RCV004773062

NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) SNV
Germline
Chr16:2079576 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA045672 rs_775584262

8 SubmittersRCV000644133RCV001019823RCV001756075RCV003459536RCV004802334RCV005019072

NM_000548.5(TSC2):c.3386G>A (p.Arg1129His) SNV
Germline
Chr16:2079658 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394286758 rs_1412967226

5 SubmittersRCV000644221RCV001565707RCV004004016RCV005502860

NM_000548.5(TSC2):c.3509C>T (p.Ser1170Leu) SNV
Germline
Chr16:2080276 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394289260 rs_45517296

3 SubmittersRCV000644185RCV003162914RCV004004011

NM_000548.5(TSC2):c.3586G>T (p.Glu1196Ter) SNV
Germline
Chr16:2080353 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394289668 rs_1555511585

1 SubmittersRCV000644093

NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu) SNV
Germline
Chr16:2081628 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276749978 rs_933257311

4 SubmittersRCV000644090RCV002343303RCV003465405RCV006277968

NM_000548.5(TSC2):c.3965C>T (p.Ala1322Val) SNV
Germline
Chr16:2083776 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394297498 rs_1380402492

3 SubmittersRCV000644248RCV005502861RCV005392212

NM_000548.5(TSC2):c.4265C>T (p.Thr1422Ile) SNV
Germline
Chr16:2084487 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050727 rs_760230300

3 SubmittersRCV000644129RCV003338711RCV004802333

NM_000548.5(TSC2):c.4454C>T (p.Thr1485Ile) SNV
Germline
Chr16:2084676 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051214 rs_772667717

3 SubmittersRCV000644158RCV002331189RCV004004004

NM_000548.5(TSC2):c.4463A>G (p.Asn1488Ser) SNV
Germline
Chr16:2084685 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276753586 rs_999699219

2 SubmittersRCV000644143RCV002331187

NM_000548.5(TSC2):c.4711T>C (p.Tyr1571His) SNV
Germline
Chr16:2086241 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394307381 rs_397514905

1 SubmittersRCV000644175

NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) SNV
Germline
Chr16:2084482 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493043384 rs_1285012780

7 SubmittersRCV000658731RCV001087296RCV002331290RCV004004194

NM_000368.5(TSC1):c.1029+3A>G SNV
Germline
Chr9:132911450 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA658822160 rs_1554817334

5 SubmittersRCV000660335RCV002477474RCV003303090

NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) SNV
Germline
Chr9:132911500 Pathogenic/Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375368627 rs_1554817388

4 SubmittersRCV000660333

NM_000368.5(TSC1):c.509-1G>A SNV
Germline
Chr9:132921974 Pathogenic/Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375372966 rs_1554819620

2 SubmittersRCV000660330

NM_000548.5(TSC2):c.649-1G>A SNV
Germline
Chr16:2056643 Likely pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394312281 rs_794727906

4 SubmittersRCV000660340RCV005407850RCV005235460

NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) SNV
Germline
Chr16:2086801 Likely pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394308553 rs_794727602

2 SubmittersRCV000660350RCV002334225

NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly) SNV
Germline
Chr9:132896549 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375367118 rs_1203493016

2 SubmittersRCV000694102RCV002325390

NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) SNV
Germline
Chr9:132896720 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367929 rs_371879917

6 SubmittersRCV000692962RCV002440461RCV003238182RCV003999591

NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg) SNV
Germline
Chr9:132897559 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375369518 rs_1396314595

4 SubmittersRCV000688397RCV002424599RCV005046929RCV006552692

NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) SNV
Germline
Chr9:132902697 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375359665 rs_118203675

3 SubmittersRCV000693569RCV002458242RCV003472211

NM_000368.5(TSC1):c.1591G>A (p.Val531Met) SNV
Germline
Chr9:132905987 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029167 rs_377279170

7 SubmittersRCV000689795RCV002256467RCV005431875RCV004997153RCV006552696

NM_000368.5(TSC1):c.871G>A (p.Asp291Asn) SNV
Germline
Chr9:132912324 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039276 rs_755195460

3 SubmittersRCV000706620RCV002442537RCV003999776

NM_000368.5(TSC1):c.738-1G>A SNV
Germline
Chr9:132912458 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375369754 rs_1564490210

1 SubmittersRCV000702420

NM_000368.5(TSC1):c.331C>T (p.Pro111Ser) SNV
Germline
Chr9:132925619 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036438 rs_748669519

7 SubmittersRCV000828016RCV001019978RCV001085615RCV004004251

NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) SNV
Germline
Chr9:132896515 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200925500 rs_779369226

4 SubmittersRCV000690055RCV003163141RCV003999538

NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro) SNV
Germline
Chr9:132897226 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375368431 rs_770834438

4 SubmittersRCV000698701RCV004678798RCV006270424

NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn) SNV
Germline
Chr9:132897269 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA200926420 rs_1033463168

3 SubmittersRCV000689051RCV001016888

NM_000368.5(TSC1):c.2626-2A>C SNV
Germline
Chr9:132897612 Pathogenic/Likely pathogenic Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA033791 rs_118203717

3 SubmittersRCV000699092RCV003163230RCV004017720

NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter) SNV
Germline
Chr9:132901603 Pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375358269 rs_1564475884

2 SubmittersRCV000689532

NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) SNV
Germline
Chr9:132901632 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375358333 rs_1369700443

4 SubmittersRCV000705362RCV001015606RCV001167132

NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) SNV
Germline
Chr9:132902639 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375359294 rs_1336228562

6 SubmittersRCV000690186RCV004686603RCV004808842RCV004802361

NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala) SNV
Germline
Chr9:132905834 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375363834 rs_1564481573

2 SubmittersRCV000695932RCV002397422

NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) SNV
Germline
Chr9:132907343 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA200890000 rs_762688935

5 SubmittersRCV000693071RCV002386204RCV003459692RCV003999593RCV005046940

NM_000368.5(TSC1):c.903G>C (p.Gln301His) SNV
Germline
Chr9:132912292 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039389 rs_762200890

3 SubmittersRCV000701891RCV003303179RCV004802389

NM_000368.5(TSC1):c.569G>A (p.Arg190His) SNV
Germline
Chr9:132921913 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038150 rs_118203402

3 SubmittersRCV000685265RCV001024421

NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser) SNV
Germline
Chr9:132896366 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA036652 rs_760918561

4 SubmittersRCV000692725RCV001020100RCV004997165

NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile) SNV
Germline
Chr9:132897550 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA034289 rs_377132822

3 SubmittersRCV000698168RCV002256478

NM_000368.5(TSC1):c.2392-5G>A SNV
Germline
Chr9:132901704 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA860668820 rs_1463016849

2 SubmittersRCV000695276RCV002424655

NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr) SNV
Germline
Chr9:132904434 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA030627 rs_774835995

4 SubmittersRCV000705976RCV001014066RCV004997213

NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) SNV
Germline
Chr9:132906829 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028393 rs_772868048

4 SubmittersRCV000685757RCV002386164RCV004004235

NM_000368.5(TSC1):c.826T>C (p.Ser276Pro) SNV
Germline
Chr9:132912369 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039128 rs_774009225

4 SubmittersRCV000688164RCV000999260RCV005762074

NM_000368.5(TSC1):c.266T>C (p.Ile89Thr) SNV
Germline
Chr9:132925684 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA375374658 rs_1564501791

3 SubmittersRCV000693606RCV002424643RCV004702333

NM_000548.5(TSC2):c.229G>A (p.Ala77Thr) SNV
Germline
Chr16:2053345 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038299 rs_777459404

7 SubmittersRCV000699574RCV001756222RCV003163237RCV006552748

NM_000548.5(TSC2):c.745G>A (p.Val249Ile) SNV
Germline
Chr16:2056740 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA056300 rs_750649974

5 SubmittersRCV000703235RCV001026461RCV003999738RCV005235471

NM_000548.5(TSC2):c.745G>C (p.Val249Leu) SNV
Germline
Chr16:2056740 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056308 rs_750649974

5 SubmittersRCV000691727RCV001026462RCV003999567

NM_000548.5(TSC2):c.827T>C (p.Met276Thr) SNV
Germline
Chr16:2057157 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394313323 rs_1281538226

2 SubmittersRCV000705751RCV003303190

NM_000548.5(TSC2):c.1375G>T (p.Gly459Cys) SNV
Germline
Chr16:2062985 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394323645 rs_1567432890

4 SubmittersRCV000706736RCV001011225RCV004802400

NM_000548.5(TSC2):c.1463T>C (p.Val488Ala) SNV
Germline
Chr16:2064291 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394325631 rs_760205499

6 SubmittersRCV000688452RCV001011705RCV003332229RCV003489808RCV006552693

NM_000548.5(TSC2):c.2838-122G>A SNV
Germline
Chr16:2077476 Pathogenic Tuberous sclerosis 2
Cortical tubers
Neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA891843876 rs_1567489890

6 SubmittersRCV000691799RCV001003985RCV001584566RCV002440452RCV005357922

NM_000548.5(TSC2):c.2954A>G (p.His985Arg) SNV
Germline
Chr16:2077714 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394281541 rs_1330306605

4 SubmittersRCV000696995RCV001017661RCV003320729

NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) SNV
Germline
Chr16:2079586 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276746101 rs_946381749

6 SubmittersRCV000691658RCV002507202RCV003303128RCV003442024RCV003999565

NM_000548.5(TSC2):c.3530T>A (p.Val1177Glu) SNV
Germline
Chr16:2080297 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394289391 rs_1567504468

2 SubmittersRCV000690319RCV002458225

NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) SNV
Germline
Chr16:2080305 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047382 rs_751708490

9 SubmittersRCV000700174RCV001020551RCV001592895RCV003999702

NM_000548.5(TSC2):c.4142C>A (p.Pro1381His) SNV
Germline
Chr16:2084364 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394299641 rs_397515264

2 SubmittersRCV000700667RCV003303175

NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg) SNV
Germline
Chr16:2084640 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Vesicoureteral reflux 8
Criteria Provided
Conflicting Classifications
CA394302120 rs_1219556604

7 SubmittersRCV000713937RCV001087681RCV003303133RCV003999573RCV005863249

NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys) SNV
Germline
Chr16:2084682 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA051248 rs_766916450

3 SubmittersRCV000691941RCV002332432RCV002485649

NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn) SNV
Germline
Chr16:2087902 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394311288 rs_1163037065

4 SubmittersRCV000698973RCV001771980RCV002334340

NM_000548.5(TSC2):c.5069-5C>T SNV
Germline
Chr16:2088043 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA053871 rs_762149472

4 SubmittersRCV000706873RCV001023491

NM_000548.5(TSC2):c.5329C>T (p.Pro1777Ser) SNV
Germline
Chr16:2088515 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055123 rs_781226141

6 SubmittersRCV000698185RCV001023931RCV003999676

NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) SNV
Germline
Chr16:2088518 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA16622078 rs_1245934608

7 SubmittersRCV000731210RCV001080512RCV002255508RCV003999574

NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) SNV
Germline
Chr9:132896730 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA035574 rs_552217429

5 SubmittersRCV000688208RCV004004278RCV003372807RCV004723070RCV005251169

NM_000368.5(TSC1):c.2625+367A>G SNV
Germline
Chr9:132900348 Pathogenic/Likely pathogenic Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA891843350 rs_1564474542

3 SubmittersRCV000705549RCV001726314RCV005357946

NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) SNV
Germline
Chr9:132902616 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA032232 rs_781371665

5 SubmittersRCV000704242RCV002311991RCV003999749RCV005046962

NM_000368.5(TSC1):c.1562C>G (p.Ser521Trp) SNV
Germline
Chr9:132906016 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375365080 rs_759379027

3 SubmittersRCV000695085RCV004025228RCV006552724

NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter) SNV
Germline
Chr9:132906125 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375365570 rs_1564482622

1 SubmittersRCV000693592

NM_000368.5(TSC1):c.1232T>A (p.Leu411His) SNV
Germline
Chr9:132910602 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA200893811 rs_140410001

2 SubmittersRCV000687786RCV004026275

NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu) SNV
Germline
Chr9:132910644 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027226 rs_766487204

4 SubmittersRCV000699455RCV002257943RCV006552747

NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) SNV
Germline
Chr9:132911544 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039798 rs_766317920

6 SubmittersRCV000706334RCV002442534RCV003424301RCV006552779

NM_000368.5(TSC1):c.931C>G (p.Pro311Ala) SNV
Germline
Chr9:132911551 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA375368729 rs_1332186256

4 SubmittersRCV000696695RCV003235358RCV003163204RCV003892553

NM_000368.5(TSC1):c.737+2T>C SNV
Germline
Chr9:132921361 Pathogenic/Likely pathogenic Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA375371174 rs_1564497308

2 SubmittersRCV000704624RCV002386267

NM_000548.5(TSC2):c.89C>G (p.Ser30Cys) SNV
Germline
Chr16:2048704 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394301392 rs_1425163522

6 SubmittersRCV000699032RCV002256480RCV004569356RCV004802380RCV006261001

NM_000548.5(TSC2):c.139-1G>A SNV
Germline
Chr16:2050399 Pathogenic Tuberous sclerosis 2 Criteria Provided
Multiple Submitters
No Conflicts
CA394303045 rs_1567386603

3 SubmittersRCV000702898

NM_000548.5(TSC2):c.256G>A (p.Ala86Thr) SNV
Germline
Chr16:2053372 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA394305566 rs_1190158836

6 SubmittersRCV000696894RCV001564684RCV002255512RCV004535735

NM_000548.5(TSC2):c.504G>T (p.Met168Ile) SNV
Germline
Chr16:2055424 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA053610 rs_748692173

2 SubmittersRCV000701409RCV004948616

NM_000548.5(TSC2):c.1172T>C (p.Val391Ala) SNV
Germline
Chr16:2061923 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394320356 rs_1414372155

2 SubmittersRCV000704181RCV002332498

NM_000548.5(TSC2):c.1364G>A (p.Ser455Asn) SNV
Germline
Chr16:2062974 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394323563 rs_1567432782

3 SubmittersRCV000691063RCV002386192RCV005367504

NM_000548.5(TSC2):c.1658A>G (p.Tyr553Cys) SNV
Germline
Chr16:2065577 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394268052 rs_1319281731

3 SubmittersRCV000698725RCV002259006

NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn) SNV
Germline
Chr16:2071540 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394273084 rs_1334081822

5 SubmittersRCV000700692RCV000765266RCV002406622RCV004768588

NM_000548.5(TSC2):c.1930T>G (p.Cys644Gly) SNV
Germline
Chr16:2071600 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394273325 rs_1567462577

3 SubmittersRCV000692026RCV002473112RCV005762077

NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) SNV
Germline
Chr16:2072265 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394274796 rs_778040604

6 SubmittersRCV000693891RCV000993368RCV002422512RCV003465588

NM_000548.5(TSC2):c.2218A>G (p.Met740Val) SNV
Germline
Chr16:2072361 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276738450 rs_757345150

6 SubmittersRCV000691766RCV000722723RCV002424627RCV002485648RCV004802365

NM_000548.5(TSC2):c.2242G>A (p.Glu748Lys) SNV
Germline
Chr16:2072870 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394276291 rs_1442440961

6 SubmittersRCV000690575RCV001014906RCV003999549RCV005021063

NM_000548.5(TSC2):c.2409G>T (p.Gln803His) SNV
Germline
Chr16:2074253 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394277160 rs_1400548727

4 SubmittersRCV000705188RCV001015436RCV006552773

NM_000548.5(TSC2):c.2914G>A (p.Ala972Thr) SNV
Germline
Chr16:2077674 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394281276 rs_1567490981

2 SubmittersRCV000707058RCV002440550

NM_000548.5(TSC2):c.3401G>A (p.Gly1134Asp) SNV
Germline
Chr16:2080168 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046733 rs_766223343

6 SubmittersRCV000694273RCV001020211RCV004768575RCV004735749RCV006552717

NM_000548.5(TSC2):c.3515G>A (p.Gly1172Asp) SNV
Germline
Chr16:2080282 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394289295 rs_1567504268

2 SubmittersRCV000694710RCV003999623

NM_000548.5(TSC2):c.3910A>T (p.Ser1304Cys) SNV
Germline
Chr16:2083721 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394297015 rs_1305173000

2 SubmittersRCV000695370RCV004025239

NM_000548.5(TSC2):c.3940C>T (p.Pro1314Ser) SNV
Germline
Chr16:2083751 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA049677 rs_771499212

2 SubmittersRCV000686237RCV002352113

NM_000548.5(TSC2):c.4494-10C>A SNV
Germline
Chr16:2084941 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051371 rs_753499012

3 SubmittersRCV000690968RCV002256468RCV006552700

NM_000548.5(TSC2):c.4589C>T (p.Ser1530Leu) SNV
Germline
Chr16:2085249 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394304471 rs_1567528487

4 SubmittersRCV000694999RCV001022741RCV003999632

NM_000548.5(TSC2):c.4613C>A (p.Pro1538Gln) SNV
Germline
Chr16:2085273 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394304708 rs_753060862

5 SubmittersRCV000702646RCV002334362RCV003106024RCV003999733RCV004569372

NM_000548.5(TSC2):c.4849+5G>A SNV
Germline
Chr16:2086384 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA620705033 rs_1198379006

4 SubmittersRCV000703090RCV001023145RCV003999737

NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val) SNV
Germline
Chr16:2088114 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054027 rs_45517394

5 SubmittersRCV000706814RCV002343574RCV006554579

NM_000548.5(TSC2):c.5161-5C>A SNV
Germline
Chr16:2088222 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276759298 rs_775534948

5 SubmittersRCV000699636RCV002334342RCV003231593RCV004802383

NM_000548.5(TSC2):c.5257C>T (p.Arg1753Trp) SNV
Germline
Chr16:2088323 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA054606 rs_756358402

3 SubmittersRCV000685400RCV002334249RCV004760700

NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp) SNV
Germline
Chr16:2088553 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394315884 rs_966695764

6 SubmittersRCV000688858RCV001023979RCV001355129RCV002499223RCV004004288

NM_000548.5(TSC2):c.5386C>T (p.Leu1796Phe) SNV
Germline
Chr16:2088572 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394316035 rs_45455398

5 SubmittersRCV000691738RCV001024013RCV003999568

NM_000548.5(TSC2):c.246G>A (p.Trp82Ter) SNV
Germline
Chr16:2053362 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394305499 rs_1567394860

1 SubmittersRCV000704652

NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) SNV
Germline
Chr16:2058827 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394315465 rs_878854122

5 SubmittersRCV000699700RCV002477600RCV002369912RCV003999696

NM_000548.5(TSC2):c.1102C>T (p.Leu368Phe) SNV
Germline
Chr16:2060796 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394318278 rs_1567423904

3 SubmittersRCV000687056RCV002424592RCV006552683

NM_000548.5(TSC2):c.2072G>A (p.Arg691His) SNV
Germline
Chr16:2071909 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276737852 rs_370553131

5 SubmittersRCV000704352RCV002422591RCV003999752

NM_000548.5(TSC2):c.2219T>C (p.Met740Thr) SNV
Germline
Chr16:2072362 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA037187 rs_757347786

6 SubmittersRCV000702147RCV002255515RCV003442046

NM_000548.5(TSC2):c.2413G>A (p.Val805Ile) SNV
Germline
Chr16:2074257 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038994 rs_768683470

2 SubmittersRCV000691498RCV002442445

NM_000548.5(TSC2):c.2896T>C (p.Phe966Leu) SNV
Germline
Chr16:2077656 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394281128 rs_1567490884

2 SubmittersRCV000697283RCV002440488

NM_000548.5(TSC2):c.3005C>T (p.Ser1002Phe) SNV
Germline
Chr16:2079070 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043825 rs_748261129

3 SubmittersRCV000691869RCV004025100RCV006552707

NM_000548.5(TSC2):c.3487G>T (p.Ala1163Ser) SNV
Germline
Chr16:2080254 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA047139 rs_560522093

6 SubmittersRCV000685058RCV001020422RCV001117666RCV005021049

NM_000548.5(TSC2):c.4262G>A (p.Gly1421Glu) SNV
Germline
Chr16:2084484 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394300579 rs_1368001965

5 SubmittersRCV000693007RCV001545128RCV002332437RCV006552709

NM_000548.5(TSC2):c.4303G>A (p.Glu1435Lys) SNV
Germline
Chr16:2084525 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394301158 rs_1441136255

5 SubmittersRCV000696535RCV001022253RCV005021076RCV004997184

NM_000548.5(TSC2):c.4430G>A (p.Arg1477Lys) SNV
Germline
Chr16:2084652 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA051117 rs_752693719

3 SubmittersRCV000701877RCV002332482RCV005021091

NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) SNV
Germline
Chr16:2086268 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA052399 rs_777592623

5 SubmittersRCV000687545RCV001081117RCV002334263RCV003459674

NM_000548.5(TSC2):c.5036A>C (p.Glu1679Ala) SNV
Germline
Chr16:2087909 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394311365 rs_1389903110

3 SubmittersRCV000691222RCV002334288RCV006552703

NM_000548.5(TSC2):c.5279A>C (p.Tyr1760Ser) SNV
Germline
Chr16:2088465 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394315177 rs_1261020269

4 SubmittersRCV000704781RCV001023847RCV004760743

NM_000548.5(TSC2):c.5356C>T (p.Pro1786Ser) SNV
Germline
Chr16:2088542 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055190 rs_371543182

7 SubmittersRCV000707703RCV002343577RCV003328624RCV003994092RCV005010711RCV006554581

NM_000548.5(TSC2):c.5401G>A (p.Glu1801Lys) SNV
Germline
Chr16:2088587 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394316159 rs_1249406161

2 SubmittersRCV000697404RCV002343497

NM_000548.5(TSC2):c.202G>C (p.Ala68Pro) SNV
Germline
Chr16:2050463 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394303524 rs_767626323

3 SubmittersRCV000691567RCV003999562RCV004025092

NM_000548.5(TSC2):c.257C>T (p.Ala86Val) SNV
Germline
Chr16:2053373 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394305574 rs_1369594860

8 SubmittersRCV000701640RCV001016002RCV001580538RCV003999717

NM_000548.5(TSC2):c.352G>A (p.Val118Ile) SNV
Germline
Chr16:2054311 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394306524 rs_878854094

3 SubmittersRCV000694884RCV002458252RCV006552722

NM_000548.5(TSC2):c.384G>T (p.Lys128Asn) SNV
Germline
Chr16:2054343 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048888 rs_748095129

3 SubmittersRCV000701802RCV002360800RCV003999720

NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg) SNV
Germline
Chr16:2060812 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394318479 rs_397515131

1 SubmittersRCV000691479

NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu) SNV
Germline
Chr16:2062007 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394321553 rs_1237876686

4 SubmittersRCV000694218RCV002422515RCV003236834RCV006552716

NM_000548.5(TSC2):c.1839+5G>C SNV
Germline
Chr16:2070583 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276735929 rs_200568460

3 SubmittersRCV000698935RCV002406609RCV003999684

NM_000548.5(TSC2):c.1912G>C (p.Val638Leu) SNV
Germline
Chr16:2071582 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394273214 rs_587778730

3 SubmittersRCV000692203RCV002406566RCV004569307

NM_000548.5(TSC2):c.2125G>T (p.Val709Phe) SNV
Germline
Chr16:2072268 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394274802 rs_1567467135

1 SubmittersRCV000702727

NM_000548.5(TSC2):c.2366T>C (p.Val789Ala) SNV
Germline
Chr16:2074210 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038784 rs_748669016

6 SubmittersRCV000689736RCV002291689RCV002458220RCV004004300

NM_000548.5(TSC2):c.2405G>A (p.Ser802Asn) SNV
Germline
Chr16:2074249 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276740789 rs_1015629239

3 SubmittersRCV000687298RCV002442424

NM_000548.5(TSC2):c.2473G>A (p.Val825Ile) SNV
Germline
Chr16:2074317 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA039138 rs_149860212

5 SubmittersRCV000693895RCV003999605RCV004025173RCV005021069RCV005411543

NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) SNV
Germline
Chr16:2077637 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276743943 rs_147523833

6 SubmittersRCV000686410RCV001016871RCV003465558RCV004004248RCV005021052

NM_000548.5(TSC2):c.2948C>G (p.Ser983Cys) SNV
Germline
Chr16:2077708 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Ovarian serous cystadenocarcinoma
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042975 rs_759786102

9 SubmittersRCV000707088RCV001575500RCV002440551RCV004544953RCV005392318RCV005901748RCV006552781

NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu) SNV
Germline
Chr16:2079630 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276746154 rs_1053311636

5 SubmittersRCV000701092RCV001020078RCV002509519

NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter) SNV
Germline
Chr16:2080325 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394289542 rs_1202939879

1 SubmittersRCV000685397

NM_000548.5(TSC2):c.3825C>A (p.Phe1275Leu) SNV
Germline
Chr16:2082446 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA048795 rs_761713908

3 SubmittersRCV000684973RCV003163091RCV005054243

NM_000548.5(TSC2):c.3866G>A (p.Arg1289Lys) SNV
Germline
Chr16:2082487 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276750925 rs_900604900

2 SubmittersRCV000693875RCV002360758

NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu) SNV
Germline
Chr16:2083755 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA049710 rs_775990159

5 SubmittersRCV000707551RCV002352224RCV003465640RCV005021105RCV006552785

NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter) SNV
Germline
Chr16:2083810 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394297796 rs_775604492

1 SubmittersRCV000697993

NM_000548.5(TSC2):c.4082G>A (p.Arg1361Gln) SNV
Germline
Chr16:2084304 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050385 rs_762798984

5 SubmittersRCV000700374RCV001021830RCV004802385

NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) SNV
Germline
Chr16:2084346 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276753293 rs_145476528

5 SubmittersRCV000700175RCV002493221RCV004535744RCV003442042RCV004026505

NM_000548.5(TSC2):c.4331C>T (p.Pro1444Leu) SNV
Germline
Chr16:2084553 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276753419 rs_550084361

2 SubmittersRCV000687287RCV003163113

NM_000548.5(TSC2):c.4663-1G>T SNV
Germline
Chr16:2086192 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394306831 rs_45517358

1 SubmittersRCV000688998

NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp) SNV
Germline
Chr16:2087872 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394310996 rs_1182240785

4 SubmittersRCV000686009RCV002334253RCV003459663RCV004723065

NM_000548.5(TSC2):c.5160+3G>A SNV
Germline
Chr16:2088142 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA891844202 rs_45517401

4 SubmittersRCV000696626RCV003999660RCV005512799

NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val) SNV
Germline
Chr16:2088231 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394313865 rs_1373235682

4 SubmittersRCV000701459RCV002334351RCV002493231RCV004802387

NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser) SNV
Germline
Chr16:2088530 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394315696 rs_1405712076

3 SubmittersRCV000696912RCV002343495RCV002477587

NM_000548.5(TSC2):c.5362T>G (p.Tyr1788Asp) SNV
Germline
Chr16:2088548 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA276760060 rs_904411432

6 SubmittersRCV000693682RCV001771961RCV002343477RCV003999601RCV005021068

NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser) SNV
Germline
Chr16:2072295 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394274850 rs_182538665

6 SubmittersRCV000713918RCV001797787RCV002424739RCV004569405

NM_000548.5(TSC2):c.3089T>G (p.Met1030Arg) SNV
Germline
Chr16:2079154 Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394284667 rs_1567496821

2 SubmittersRCV000713923RCV001861998

NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp) SNV
Germline
Chr9:132905899 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA375364274 rs_1395737285

4 SubmittersRCV001364372RCV002317473RCV005046977

NM_000548.5(TSC2):c.96G>A (p.Glu32=) SNV
Germline
Chr16:2048711 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492954460 rs_1567380772

7 SubmittersRCV000867393RCV001731910RCV002317431RCV003999800

NM_000548.5(TSC2):c.4850-10T>A SNV
Germline
Chr16:2086722 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA913190396 rs_1238997365

2 SubmittersRCV000732362RCV003512075

NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) SNV
Germline
Chr16:2061896 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA028620 rs_758511419

6 SubmittersRCV000732364RCV000761152RCV001797789RCV002458345RCV002485913

NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter) SNV
Germline
Chr9:132902658 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375359430 rs_1564477162

2 SubmittersRCV000760541RCV001855927

NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) SNV
Germline
Chr9:132897610 Pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA034018 rs_747602915

4 SubmittersRCV000760325RCV001028066

NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) SNV
Germline
Chr9:132896291 Conflicting classifications of pathogenicity Acute myeloid leukemia
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA037114 rs_768624733

5 SubmittersRCV000761141RCV001349883RCV002458369

NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) SNV
Germline
Chr16:2070574 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA394273013 rs_1567458244

3 SubmittersRCV000761363

NM_000548.5(TSC2):c.225+1G>A SNV
Germline
Chr16:2050487 Pathogenic/Likely pathogenic Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394303666 rs_1567387207

3 SubmittersRCV000768348RCV001378178

NM_000548.5(TSC2):c.2295C>G (p.Ala765=) SNV
Germline
Chr16:2072923 Conflicting classifications of pathogenicity Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492952659 rs_45509500

7 SubmittersRCV000768119RCV000907248RCV001015044RCV003999914

NM_000548.5(TSC2):c.2479G>A (p.Val827Met) SNV
Germline
Chr16:2074323 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039169 rs_543738044

5 SubmittersRCV000768121RCV001043364RCV004678818

NM_000368.5(TSC1):c.232G>T (p.Glu78Ter) SNV
Germline
Chr9:132925718 Pathogenic/Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375374791 rs_1588355838

2 SubmittersRCV000855450

NM_000548.5(TSC2):c.2355+2T>G SNV
Germline
Chr16:2072985 Pathogenic Tuberous sclerosis 2 No Assertion Criteria Provided
CA394276721 rs_45517228

1 SubmittersRCV000786887

NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala) SNV
Germline
Chr9:132896297 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA037053 rs_773541137

4 SubmittersRCV000792073RCV001020297

NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) SNV
Germline
Chr9:132896306 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375366402 rs_1060503227

4 SubmittersRCV000807044RCV002453808RCV004001693RCV005047093

NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) SNV
Germline
Chr9:132896425 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366663 rs_1263464680

4 SubmittersRCV000819759RCV001759601RCV002325614

NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) SNV
Germline
Chr9:132896456 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA036323 rs_747053008

4 SubmittersRCV000793432RCV001019566RCV003472338

NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp) SNV
Germline
Chr9:132896464 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA036260 rs_762845573

2 SubmittersRCV000793677RCV005286209

NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu) SNV
Germline
Chr9:132896555 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375367142 rs_1379924767

3 SubmittersRCV000815344RCV004949982RCV006270437

NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg) SNV
Germline
Chr9:132896714 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375367890 rs_1242948205

5 SubmittersRCV000819678RCV001552544RCV001018065

NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn) SNV
Germline
Chr9:132897295 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA375368839 rs_1488726432

3 SubmittersRCV000804534RCV003166239RCV005047085

NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) SNV
Germline
Chr9:132897460 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034563 rs_397514879

3 SubmittersRCV000816674RCV003307528RCV004001790

NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys) SNV
Germline
Chr9:132897585 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375369627 rs_1449821288

3 SubmittersRCV000808604RCV002495109RCV003307494

NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) SNV
Germline
Chr9:132897600 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA034047 rs_754457018

6 SubmittersRCV000817447RCV001167131RCV002257984RCV005049706

NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) SNV
Germline
Chr9:132901659 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA032689 rs_761281095

8 SubmittersRCV000823084RCV001015512RCV001568061RCV002235444RCV005401636

NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) SNV
Germline
Chr9:132901660 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375358621 rs_397514814

5 SubmittersRCV000804741RCV002453791RCV004001673RCV005054266

NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) SNV
Germline
Chr9:132901698 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375358826 rs_1331635112

4 SubmittersRCV000816577RCV001015382RCV001766718

NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) SNV
Germline
Chr9:132902627 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA032216 rs_749111647

4 SubmittersRCV000798316RCV001015305RCV004569554

NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) SNV
Germline
Chr9:132902712 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375359764 rs_1264839312

5 SubmittersRCV000809055RCV002442707RCV003472401RCV004803248

NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter) SNV
Germline
Chr9:132902754 Pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375359955 rs_1588301951

2 SubmittersRCV000820650

NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys) SNV
Germline
Chr9:132903698 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031596 rs_763357144

4 SubmittersRCV000805367RCV002424872RCV006552879

NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys) SNV
Germline
Chr9:132905583 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375362220 rs_748733167

3 SubmittersRCV000799145RCV002255527

NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) SNV
Germline
Chr9:132905762 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375363328 rs_1343881428

4 SubmittersRCV000798422RCV002501062RCV003461102RCV004001620

NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) SNV
Germline
Chr9:132905765 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375363348 rs_1588309025

6 SubmittersRCV000795454RCV001759502RCV002406743RCV003467348RCV006552849

NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter) SNV
Germline/somatic
Chr9:132906032 Pathogenic Tuberous sclerosis 1
Malignant tumor of urinary bladder
Criteria Provided
Single Submitter
CA375365152 rs_1588310754

2 SubmittersRCV000804841RCV003332259

NM_000368.5(TSC1):c.1418T>C (p.Ile473Thr) SNV
Germline
Chr9:132906751 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Criteria Provided
Conflicting Classifications
CA028574 rs_185159716

3 SubmittersRCV000824318RCV002390714RCV003908111

NM_000368.5(TSC1):c.1219G>C (p.Val407Leu) SNV
Germline
Chr9:132910615 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375366893 rs_769331772

3 SubmittersRCV000812099RCV002363107RCV004997368

NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) SNV
Germline
Chr9:132911460 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375368421 rs_1588324106

4 SubmittersRCV000817104RCV002442738RCV003473496RCV006545551

NM_000368.5(TSC1):c.884G>C (p.Ser295Thr) SNV
Germline
Chr9:132912311 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375369099 rs_1415705359

6 SubmittersRCV000808212RCV002291701RCV002370159RCV002487737RCV004803245

NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) SNV
Germline
Chr9:132921417 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375371452 rs_1223799508

3 SubmittersRCV000796501RCV004001600RCV003344053

NM_000368.5(TSC1):c.555C>G (p.Tyr185Ter) SNV
Germline
Chr9:132921927 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375372744 rs_118203398

1 SubmittersRCV000809212

NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) SNV
Germline
Chr9:132923461 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200901597 rs_397514784

4 SubmittersRCV000793584RCV004027447RCV004001574

NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr) SNV
Germline
Chr9:132925594 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375374314 rs_1554820265

2 SubmittersRCV000822480RCV003169034

NM_000368.5(TSC1):c.272C>T (p.Ser91Leu) SNV
Germline
Chr9:132925678 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA034438 rs_118203361

4 SubmittersRCV000799995RCV002487685RCV002440669

NM_000368.5(TSC1):c.158G>A (p.Ser53Asn) SNV
Germline
Chr9:132927253 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375375132 rs_1588359592

2 SubmittersRCV000816230RCV005749649

NM_000368.5(TSC1):c.116C>G (p.Pro39Arg) SNV
Germline
Chr9:132927295 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA027217 rs_770831962

3 SubmittersRCV000817725RCV004569733RCV006287276

NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) SNV
Germline
Chr9:132927302 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375375234 rs_1309560054

5 SubmittersRCV000816480RCV001017290RCV003320759RCV006545544

NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) SNV
Germline
Chr9:132928803 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200902498 rs_984306144

6 SubmittersRCV000815042RCV002363122RCV003141835RCV002495148RCV003461229RCV004001770

NM_000368.5(TSC1):c.61G>T (p.Val21Leu) SNV
Germline
Chr9:132928812 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375375348 rs_1392596033

5 SubmittersRCV000795310RCV001572386RCV002352327RCV004803221

NM_000368.5(TSC1):c.10C>T (p.Gln4Ter) SNV
Germline
Chr9:132928863 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA027033 rs_753838459

3 SubmittersRCV000807651RCV003442093RCV005502912

NM_000548.5(TSC2):c.11C>T (p.Pro4Leu) SNV
Germline
Chr16:2048626 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028755 rs_147206318

3 SubmittersRCV000815336RCV002345865RCV006545540

NM_000548.5(TSC2):c.175C>T (p.Arg59Trp) SNV
Germline
Chr16:2050436 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276769391 rs_1015282988

7 SubmittersRCV000815994RCV001249157RCV001013003RCV004803260

NM_000548.5(TSC2):c.190A>T (p.Ile64Phe) SNV
Germline
Chr16:2050451 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394303451 rs_397515081

2 SubmittersRCV000799165RCV002406765

NM_000548.5(TSC2):c.233T>C (p.Val78Ala) SNV
Germline
Chr16:2053349 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394305430 rs_1163221525

2 SubmittersRCV000796282RCV002495047

NM_000548.5(TSC2):c.239C>T (p.Ala80Val) SNV
Germline
Chr16:2053355 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276771032 rs_142580483

3 SubmittersRCV000812994RCV002259026

NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) SNV
Germline
Chr16:2053409 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394305789 rs_1478204355

7 SubmittersRCV000796897RCV001840733RCV002440646RCV002487669RCV003461091RCV004001605

NM_000548.5(TSC2):c.310C>G (p.Leu104Val) SNV
Germline
Chr16:2053426 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394305913 rs_1596259554

3 SubmittersRCV000820374RCV002319905RCV004803267

NM_000548.5(TSC2):c.343C>T (p.Arg115Cys) SNV
Germline
Chr16:2054302 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394306415 rs_1256047792

3 SubmittersRCV000802000RCV003307466RCV004773161

NM_000548.5(TSC2):c.364C>T (p.Leu122Phe) SNV
Germline
Chr16:2054323 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394306653 rs_1175373447

2 SubmittersRCV000821089RCV002453884

NM_000548.5(TSC2):c.365T>A (p.Leu122His) SNV
Germline
Chr16:2054324 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA394306656 rs_756263581

3 SubmittersRCV000822531RCV002453897RCV002495179

NM_000548.5(TSC2):c.392C>T (p.Pro131Leu) SNV
Germline
Chr16:2054351 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394306918 rs_1487984678

2 SubmittersRCV000811943RCV004028754

NM_000548.5(TSC2):c.412G>A (p.Glu138Lys) SNV
Germline
Chr16:2054371 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394307089 rs_1173061992

5 SubmittersRCV000802752RCV001805870RCV003166220RCV004001651

NM_000548.5(TSC2):c.488T>C (p.Phe163Ser) SNV
Germline
Chr16:2055408 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394309071 rs_1596270677

5 SubmittersRCV000820781RCV001585759RCV005512832

NM_000548.5(TSC2):c.508G>A (p.Val170Ile) SNV
Germline
Chr16:2055428 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394309219 rs_1596270815

4 SubmittersRCV000796975RCV001023518RCV005021200

NM_000548.5(TSC2):c.643A>G (p.Ile215Val) SNV
Germline
Chr16:2056239 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394311031 rs_1293515155

6 SubmittersRCV000802751RCV001759528RCV002360958RCV005021214RCV006552875

NM_000548.5(TSC2):c.713T>C (p.Leu238Pro) SNV
Germline
Chr16:2056708 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056191 rs_768623382

4 SubmittersRCV000809469RCV001026083RCV004001712

NM_000548.5(TSC2):c.932C>G (p.Ser311Cys) SNV
Germline
Chr16:2058830 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394315485 rs_1475672414

4 SubmittersRCV000819530RCV001766732RCV006287278

NM_000548.5(TSC2):c.947C>T (p.Pro316Leu) SNV
Germline
Chr16:2058845 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394315620 rs_751490043

5 SubmittersRCV000806808RCV001772084RCV002442696RCV004001690

NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter) SNV
Germline
Chr16:2060802 Pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394318338 rs_1596298721

5 SubmittersRCV000801770RCV002458470RCV006250869

NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr) SNV
Germline
Chr16:2061935 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276777444 rs_1026632436

4 SubmittersRCV000811652RCV002336669

NM_000548.5(TSC2):c.1239A>T (p.Arg413Ser) SNV
Germline
Chr16:2061990 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394321372 rs_1596303739

2 SubmittersRCV000820928RCV002372341

NM_000548.5(TSC2):c.1273A>T (p.Asn425Tyr) SNV
Germline
Chr16:2062512 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394321904 rs_1186443300

4 SubmittersRCV000804702RCV003332258RCV004028190RCV005021219

NM_000548.5(TSC2):c.1339G>A (p.Ala447Thr) SNV
Germline
Chr16:2062578 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394322556 rs_1408196847

4 SubmittersRCV000793796RCV004949909RCV006552846

NM_000548.5(TSC2):c.1352G>A (p.Arg451Lys) SNV
Germline
Chr16:2062591 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029408 rs_749780677

5 SubmittersRCV000802374RCV000827504RCV002386431RCV006552872

NM_000548.5(TSC2):c.1390A>C (p.Lys464Gln) SNV
Germline
Chr16:2063000 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394323765 rs_1555501694

4 SubmittersRCV000820637RCV004029043RCV005021251RCV006252734

NM_000548.5(TSC2):c.1470C>G (p.Ile490Met) SNV
Germline
Chr16:2064298 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394325732 rs_753344988

4 SubmittersRCV000810250RCV001011757RCV004001720

NM_000548.5(TSC2):c.1490C>A (p.Pro497His) SNV
Germline
Chr16:2064318 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394325945 rs_1484576810

6 SubmittersRCV000818281RCV002390674RCV004528312RCV004803265RCV004997381

NM_000548.5(TSC2):c.1600G>A (p.Val534Met) SNV
Germline
Chr16:2065519 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394267527 rs_587778729

3 SubmittersRCV000807088RCV001012372

NM_000548.5(TSC2):c.1613C>G (p.Ser538Cys) SNV
Germline
Chr16:2065532 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA031745 rs_201334685

2 SubmittersRCV000793613RCV002388422

NM_000548.5(TSC2):c.1848C>G (p.Asp616Glu) SNV
Germline
Chr16:2071518 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394273044 rs_1383525805

2 SubmittersRCV000800212RCV002406769

NM_000548.5(TSC2):c.1885C>G (p.Leu629Val) SNV
Germline
Chr16:2071555 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394273125 rs_570409651

6 SubmittersRCV000799154RCV001013536RCV004001622RCV002487679

NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) SNV
Germline
Chr16:2071575 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394273174 rs_1596342515

7 SubmittersRCV000793379RCV002406731RCV002487653RCV003461076RCV004803218RCV004721605

NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) SNV
Germline
Chr16:2071598 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA394273307 rs_1319342312

9 SubmittersRCV000803397RCV001526823RCV001592994RCV002406784RCV002501080RCV004528302

NM_000548.5(TSC2):c.1933G>C (p.Val645Leu) SNV
Germline
Chr16:2071603 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034578 rs_746677177

4 SubmittersRCV000811430RCV002406828RCV002254945RCV004803252

NM_000548.5(TSC2):c.1976C>G (p.Thr659Ser) SNV
Germline
Chr16:2071813 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA035359 rs_755847664

2 SubmittersRCV000804262RCV002422754

NM_000548.5(TSC2):c.1991C>T (p.Ser664Phe) SNV
Germline
Chr16:2071828 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394274410 rs_991714565

4 SubmittersRCV000802473RCV001013973RCV004588264

NM_000548.5(TSC2):c.2158A>G (p.Lys720Glu) SNV
Germline
Chr16:2072301 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394274862 rs_1195091149

3 SubmittersRCV000816211RCV002507425RCV006545543

NM_000548.5(TSC2):c.2386C>G (p.Leu796Val) SNV
Germline
Chr16:2074230 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394277052 rs_1596356291

4 SubmittersRCV000805175RCV002453794RCV002487724RCV004001676

NM_000548.5(TSC2):c.2399G>C (p.Cys800Ser) SNV
Germline
Chr16:2074243 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038900 rs_746044783

2 SubmittersRCV000807985RCV006552884

NM_000548.5(TSC2):c.2417T>C (p.Val806Ala) SNV
Germline
Chr16:2074261 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394277221 rs_1285249923

4 SubmittersRCV000811110RCV002442713RCV005021231

NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter) SNV
Germline
Chr16:2074284 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394277390 rs_45485395

1 SubmittersRCV000799704

NM_000548.5(TSC2):c.2452A>G (p.Ile818Val) SNV
Germline
Chr16:2074296 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394277470 rs_1596356585

7 SubmittersRCV000996155RCV000819204RCV002259029RCV004569745

NM_000548.5(TSC2):c.2592G>C (p.Gln864His) SNV
Germline
Chr16:2075845 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA040176 rs_763099064

5 SubmittersRCV000798458RCV001759515RCV002458444RCV005021204

NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) SNV
Germline
Chr16:2076160 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA041055 rs_774758044

7 SubmittersRCV000821573RCV001016431RCV002281138RCV003467508RCV004002834

NM_000548.5(TSC2):c.2818C>T (p.Leu940Phe) SNV
Germline
Chr16:2076566 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394280196 rs_1378325757

2 SubmittersRCV000824363RCV002434030

NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter) SNV
Germline
Chr16:2076575 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394280216 rs_1596369682

1 SubmittersRCV000810139

NM_000548.5(TSC2):c.2879C>G (p.Ser960Cys) SNV
Germline
Chr16:2077639 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394281004 rs_397514898

2 SubmittersRCV000817515RCV005286231

NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) SNV
Germline
Chr16:2077642 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042547 rs_370415754

6 SubmittersRCV000799042RCV003117590RCV002440661RCV006552862

NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp) SNV
Germline
Chr16:2077664 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA042638 rs_765438249

3 SubmittersRCV000808462RCV002440730RCV002487740

NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) SNV
Germline
Chr16:2077677 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA042754 rs_780981335

6 SubmittersRCV000810880RCV001759564RCV002507412RCV002440748RCV004001727

NM_000548.5(TSC2):c.2933G>T (p.Arg978Leu) SNV
Germline
Chr16:2077693 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394281419 rs_876660733

2 SubmittersRCV000811502RCV002440756

NM_000548.5(TSC2):c.2956G>A (p.Val986Met) SNV
Germline
Chr16:2077716 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA043009 rs_765489754

3 SubmittersRCV000797775RCV003166162RCV003467365

NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys) SNV
Germline
Chr16:2079060 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043657 rs_777089012

6 SubmittersRCV000808265RCV001805880RCV002440728RCV002487738RCV006552887

NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn) SNV
Germline
Chr16:2079061 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA043671 rs_149808366

8 SubmittersRCV000823012RCV001568109RCV002257992RCV004002850RCV005021257

NM_000548.5(TSC2):c.2996G>C (p.Ser999Thr) SNV
Germline
Chr16:2079061 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394283753 rs_149808366

4 SubmittersRCV000804142RCV001017863RCV004803234

NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met) SNV
Germline
Chr16:2079181 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394284894 rs_1596382895

6 SubmittersRCV000805766RCV002325565RCV002495100RCV005623370RCV004001680

NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter) SNV
Germline
Chr16:2079289 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394285222 rs_796053492

1 SubmittersRCV000821196

NM_000548.5(TSC2):c.3223A>G (p.Thr1075Ala) SNV
Germline
Chr16:2079367 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA044809 rs_768568810

2 SubmittersRCV000823728RCV002442767

NM_000548.5(TSC2):c.3373C>T (p.Arg1125Trp) SNV
Germline
Chr16:2079645 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA046293 rs_747420910

6 SubmittersRCV000816039RCV001020120RCV001772112RCV005021242

NM_000548.5(TSC2):c.3388T>G (p.Ser1130Ala) SNV
Germline
Chr16:2079660 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA046451 rs_770048768

2 SubmittersRCV000794325RCV002458416

NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr) SNV
Germline
Chr16:2079664 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046476 rs_763122999

7 SubmittersRCV000809238RCV001020182RCV002478879RCV004001709

NM_000548.5(TSC2):c.3470G>C (p.Gly1157Ala) SNV
Germline
Chr16:2080237 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394288926 rs_1477039147

3 SubmittersRCV000803450RCV002336624RCV004001663

NM_000548.5(TSC2):c.3557A>T (p.Tyr1186Phe) SNV
Germline
Chr16:2080324 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA047470 rs_137854421

4 SubmittersRCV000821140RCV004773199RCV004803269RCV005502922

NM_000548.5(TSC2):c.3761C>T (p.Ser1254Leu) SNV
Germline
Chr16:2081745 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394293214 rs_1596400563

2 SubmittersRCV000793813RCV004027457

NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) SNV
Germline
Chr16:2081771 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394293465 rs_1233661099

6 SubmittersRCV000794216RCV002343657RCV002487657RCV003229863RCV004001585

NM_000548.5(TSC2):c.3934G>A (p.Val1312Met) SNV
Germline
Chr16:2083745 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394297276 rs_201584397

2 SubmittersRCV000815948RCV002372303

NM_000548.5(TSC2):c.3991G>C (p.Asp1331His) SNV
Germline
Chr16:2083802 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394297728 rs_770396146

5 SubmittersRCV000807415RCV001766687RCV004028614RCV004803243

NM_000548.5(TSC2):c.4002C>G (p.Ser1334Arg) SNV
Germline
Chr16:2083813 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394297852 rs_1060500911

2 SubmittersRCV000822572RCV005762109

NM_000548.5(TSC2):c.4100G>A (p.Gly1367Asp) SNV
Germline
Chr16:2084322 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394299479 rs_1460776110

3 SubmittersRCV000813196RCV003307516RCV004569689

NM_000548.5(TSC2):c.4115T>C (p.Val1372Ala) SNV
Germline
Chr16:2084337 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394299531 rs_1300203299

3 SubmittersRCV000817763RCV001021899

NM_000548.5(TSC2):c.4201C>T (p.Pro1401Ser) SNV
Germline
Chr16:2084423 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050649 rs_778147657

6 SubmittersRCV000822458RCV001575055RCV002332714RCV004002843

NM_000548.5(TSC2):c.4462A>G (p.Asn1488Asp) SNV
Germline
Chr16:2084684 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394302462 rs_1203541600

2 SubmittersRCV000821429RCV002332708

NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) SNV
Germline
Chr16:2085233 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394304316 rs_45517352

6 SubmittersRCV000821259RCV002478922RCV003222146RCV005298629

NM_000548.5(TSC2):c.4709G>A (p.Arg1570Lys) SNV
Germline
Chr16:2086239 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276756224 rs_397514980

4 SubmittersRCV000822193RCV001772137RCV002332711

NM_000548.5(TSC2):c.4766C>T (p.Pro1589Leu) SNV
Germline
Chr16:2086296 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA052421 rs_373635516

7 SubmittersRCV000823493RCV001023009RCV004002855RCV004723250

NM_000548.5(TSC2):c.4909A>G (p.Lys1637Glu) SNV
Germline
Chr16:2086791 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394308497 rs_1596443444

2 SubmittersRCV000812492RCV006287272

NM_000548.5(TSC2):c.5115C>G (p.Asp1705Glu) SNV
Germline
Chr16:2088094 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394312331 rs_1385591764

5 SubmittersRCV000821191RCV001664442RCV002345894RCV004803272

NM_000548.5(TSC2):c.5129T>G (p.Phe1710Cys) SNV
Germline
Chr16:2088108 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394312445 rs_1315439478

2 SubmittersRCV000811006RCV004949968

NM_000548.5(TSC2):c.5133G>A (p.Val1711=) SNV
Germline
Chr16:2088112 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493043672 rs_1596457919

4 SubmittersRCV000821179RCV002345893RCV004818056RCV004803271

NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala) SNV
Germline
Chr16:2088263 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394314229 rs_1596460327

4 SubmittersRCV000806641RCV003461161RCV003380734RCV004768667

NM_000548.5(TSC2):c.5204T>C (p.Ile1735Thr) SNV
Germline
Chr16:2088270 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276759442 rs_786203769

6 SubmittersRCV000819482RCV001023722RCV004735820RCV006545560

NM_000548.5(TSC2):c.5377C>G (p.Arg1793Gly) SNV
Germline
Chr16:2088563 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394315966 rs_1473538868

4 SubmittersRCV000793542RCV001023995RCV006552843

NM_000368.5(TSC1):c.2814-2A>G SNV
Germline
Chr9:132897347 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375368958 rs_1588290111

1 SubmittersRCV000810834

NM_000368.5(TSC1):c.2626-5T>G SNV
Germline
Chr9:132897615 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA915947226 rs_1444272064

2 SubmittersRCV000822081RCV003169029

NM_000548.5(TSC2):c.1119+3G>C SNV
Germline
Chr16:2060816 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA915946232 rs_79668097

3 SubmittersRCV000797499RCV001017389

NM_000548.5(TSC2):c.1716+3G>C SNV
Germline
Chr16:2065638 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA915946241 rs_1596317691

2 SubmittersRCV000799989RCV006287266

NM_000548.5(TSC2):c.1716+5G>C SNV
Germline
Chr16:2065640 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA915946242 rs_1596317714

1 SubmittersRCV000822477

NM_000548.5(TSC2):c.3815-8C>G SNV
Germline
Chr16:2082428 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA915946299 rs_1596404187

2 SubmittersRCV000807874RCV002464327

NM_000548.5(TSC2):c.138+6T>C SNV
Germline
Chr16:2048759 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA620704769 rs_1252109762

2 SubmittersRCV000806644RCV006552881

NM_000548.5(TSC2):c.1119+6G>A SNV
Germline
Chr16:2060819 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028385 rs_397515305

3 SubmittersRCV000811629RCV004001732

NM_000548.5(TSC2):c.1257+1G>C SNV
Germline
Chr16:2062009 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394321570 rs_397515066

1 SubmittersRCV000813443

NM_000548.5(TSC2):c.1946+3A>C SNV
Germline
Chr16:2071619 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Rhabdomyoma
Criteria Provided
Conflicting Classifications
CA915946249 rs_1596342841

2 SubmittersRCV000818397RCV005235487

NM_000548.5(TSC2):c.4493+3G>A SNV
Germline
Chr16:2084718 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA718918957 rs_1259786285

4 SubmittersRCV000796611RCV005298612RCV006552853

NM_000548.5(TSC2):c.4569+5G>A SNV
Germline
Chr16:2085031 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA051676 rs_746446349

6 SubmittersRCV000817647RCV001022710RCV002501128RCV006545553RCV006261113

NM_000548.5(TSC2):c.5068+1G>T SNV
Germline
Chr16:2087942 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394311746 rs_45445199

1 SubmittersRCV000803783

NM_000548.5(TSC2):c.2356-1G>C SNV
Germline
Chr16:2074199 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394276918 rs_45481704

1 SubmittersRCV000815340

NM_000548.5(TSC2):c.2967-1G>T SNV
Germline
Chr16:2079031 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394283420 rs_1596382055

5 SubmittersRCV000791728RCV002440623RCV004001555RCV004721599

NM_000548.5(TSC2):c.4570-1G>A SNV
Germline
Chr16:2085229 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051714 rs_777985056

7 SubmittersRCV000824388RCV001022719RCV002260671RCV003461290RCV006545567

NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) SNV
Germline
Chr9:132901645 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA375358564 rs_1588299158

1 SubmittersRCV000826206

NM_000548.5(TSC2):c.4010C>T (p.Ser1337Phe) SNV
Germline
Chr16:2084232 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050168 rs_200411484

6 SubmittersRCV000840982RCV001034267RCV002372380RCV004002891

NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp) SNV
Germline
Chr16:2088454 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA054895 rs_755229386

4 SubmittersRCV000840146RCV001202480RCV002336738

NM_000548.5(TSC2):c.5337G>A (p.Gln1779=) SNV
Germline
Chr16:2088523 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA276760043 rs_768237144

8 SubmittersRCV000827300RCV001023945RCV001477025RCV004002876RCV004726699

NM_000368.5(TSC1):c.2994C>T (p.Asp998=) SNV
Germline
Chr9:132896736 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200925907 rs_923543734

6 SubmittersRCV000867669RCV001169543RCV002434098RCV004003003

NM_000368.5(TSC1):c.1734C>T (p.Thr578=) SNV
Germline
Chr9:132905844 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467813415 rs_1251871091

5 SubmittersRCV000868067RCV001167199RCV002399908

NM_000548.5(TSC2):c.879A>G (p.Arg293=) SNV
Germline
Chr16:2058777 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056641 rs_369222477

7 SubmittersRCV000870337RCV001018344RCV001117345

NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr) SNV
Germline
Chr9:132906004 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA029046 rs_750784794

3 SubmittersRCV000878275RCV002399971RCV005047140

NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) SNV
Germline
Chr9:132906029 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375365139 rs_1243886871

5 SubmittersRCV000871624RCV001766779RCV002399935RCV003473525

NM_000368.5(TSC1):c.542A>G (p.His181Arg) SNV
Germline
Chr9:132921940 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA038042 rs_397515294

6 SubmittersRCV000877417RCV002346037RCV004003122RCV004588318

NM_000548.5(TSC2):c.2553C>T (p.Ala851=) SNV
Germline
Chr16:2075806 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA040006 rs_745687916

9 SubmittersRCV000873394RCV001015908RCV001712820RCV004003087

NM_000548.5(TSC2):c.3243A>G (p.Leu1081=) SNV
Germline
Chr16:2079387 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493042936 rs_1156745816

4 SubmittersRCV001417889RCV003307653RCV004997452RCV004803293

NM_000368.5(TSC1):c.913+9T>C SNV
Germline
Chr9:132912273 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA915947257 rs_1588326345

3 SubmittersRCV000875899RCV006261149

NM_000548.5(TSC2):c.5388C>T (p.Leu1796=) SNV
Germline
Chr16:2088574 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA493043795 rs_1412229429

5 SubmittersRCV000951039RCV004950092RCV006265488

NM_000548.5(TSC2):c.2394C>T (p.His798=) SNV
Germline
Chr16:2074238 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038874 rs_547019464

4 SubmittersRCV000960352RCV002454189RCV004004362

NM_000548.5(TSC2):c.1842C>G (p.Ala614=) SNV
Germline
Chr16:2071512 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA492950239 rs_201575136

9 SubmittersRCV000893183RCV001119052RCV001548400RCV003169247RCV004541837RCV006460059

NM_000548.5(TSC2):c.2130G>A (p.Leu710=) SNV
Germline
Chr16:2072273 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA036787 rs_747122485

4 SubmittersRCV001477298RCV002416118RCV006545658

NM_000548.5(TSC2):c.2877C>T (p.Asn959=) SNV
Germline
Chr16:2077637 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492954899 rs_147523833

4 SubmittersRCV001405978RCV002434192RCV003322835

NM_000368.5(TSC1):c.219G>A (p.Leu73=) SNV
Germline
Chr9:132925731 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA467594234 rs_1588355863

2 SubmittersRCV001438594RCV006545665

NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr) SNV
Germline
Chr16:2056753 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA056325 rs_766547457

3 SubmittersRCV000917318RCV004003176RCV004950048

NM_000548.5(TSC2):c.901A>G (p.Met301Val) SNV
Germline
Chr16:2058799 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394315257 rs_1356498946

3 SubmittersRCV001522508RCV002372554RCV004721677

NM_000548.5(TSC2):c.1005C>T (p.Ser335=) SNV
Germline
Chr16:2060699 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492960656 rs_397514924

4 SubmittersRCV000925362RCV002256605RCV004803305

NM_000548.5(TSC2):c.1470C>A (p.Ile490=) SNV
Germline
Chr16:2064298 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA030719 rs_753344988

3 SubmittersRCV000921696RCV001421613RCV003307690

NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr) SNV
Germline
Chr16:2071601 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034528 rs_758301934

6 SubmittersRCV000925339RCV001013637RCV006545677

NM_000548.5(TSC2):c.3834G>A (p.Leu1278=) SNV
Germline
Chr16:2082455 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA048852 rs_766029525

2 SubmittersRCV000911386RCV002354744

NM_000368.5(TSC1):c.711C>T (p.Ser237=) SNV
Germline
Chr9:132921389 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467593730 rs_1588345678

3 SubmittersRCV000942372RCV004029724

NM_000368.5(TSC1):c.546C>T (p.Ala182=) SNV
Germline
Chr9:132921936 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA467593825 rs_1245007527

5 SubmittersRCV000932424RCV002256608RCV006545689

NM_000548.5(TSC2):c.264G>A (p.Leu88=) SNV
Germline
Chr16:2053380 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492955200 rs_1466279830

7 SubmittersRCV000940368RCV001569812RCV002259061RCV006545713

NM_000548.5(TSC2):c.613C>T (p.Leu205=) SNV
Germline
Chr16:2056209 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492956300 rs_1596275276

5 SubmittersRCV000939323RCV001024930RCV001814244

NM_000548.5(TSC2):c.926T>A (p.Leu309His) SNV
Germline
Chr16:2058824 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA056674 rs_75348431

3 SubmittersRCV000935032RCV002372604RCV004003268

NM_000548.5(TSC2):c.978C>G (p.Ala326=) SNV
Germline
Chr16:2060672 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
not specified
Criteria Provided
Conflicting Classifications
CA492960493 rs_1294670888

5 SubmittersRCV000936413RCV002382134RCV004003281RCV005438044

NM_000548.5(TSC2):c.1596G>A (p.Glu532=) SNV
Germline
Chr16:2064424 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031176 rs_756466484

5 SubmittersRCV000938117RCV002400066RCV003456458RCV004003300

NM_000368.5(TSC1):c.664-9C>T SNV
Germline
Chr9:132921445 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200900999 rs_757752536

4 SubmittersRCV000935644RCV006261175RCV006545700

NM_000548.5(TSC2):c.482-4C>T SNV
Germline
Chr16:2055398 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA052677 rs_780938957

5 SubmittersRCV000945068RCV001655648RCV004950087

NM_000548.5(TSC2):c.3815-4G>T SNV
Germline
Chr16:2082432 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA620378670 rs_1410163756

3 SubmittersRCV001494851RCV004726736

NM_000548.5(TSC2):c.5069-10G>C SNV
Germline
Chr16:2088038 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA718904493 rs_1409032179

3 SubmittersRCV001461324RCV004997519

NM_000548.5(TSC2):c.600-5T>C SNV
Germline
Chr16:2056191 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055707 rs_779176291

4 SubmittersRCV001403359RCV002354784RCV004003228

NM_000548.5(TSC2):c.2640-4T>C SNV
Germline
Chr16:2076064 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA915946281 rs_1596366489

6 SubmittersRCV000934607RCV001016169RCV004003265

NM_000548.5(TSC2):c.2838-10C>T SNV
Germline
Chr16:2077588 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA915946286 rs_1596374422

4 SubmittersRCV000945745RCV002275173RCV004004341

NM_000368.5(TSC1):c.1860C>T (p.Val620=) SNV
Germline
Chr9:132905718 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467813122 rs_1588308756

4 SubmittersRCV000983302RCV005298664RCV004777913

NM_000368.5(TSC1):c.1059T>C (p.Cys353=) SNV
Germline
Chr9:132911084 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA467593367 rs_1216537041

6 SubmittersRCV000978335RCV002409296RCV002265916RCV004997541RCV005047155

NM_000368.5(TSC1):c.770T>A (p.Ile257Asn) SNV
Germline
Chr9:132912425 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038850 rs_745640752

3 SubmittersRCV000983883RCV004950112

NM_000548.5(TSC2):c.3288C>T (p.Ser1096=) SNV
Germline
Chr16:2079560 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492955207 rs_1596385627

3 SubmittersRCV001430606RCV004950102RCV006545732

NM_000548.5(TSC2):c.4603G>A (p.Asp1535Asn) SNV
Germline/somatic
Chr16:2085263 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA051924 rs_45517353

5 SubmittersRCV000981686RCV002337030RCV004004399RCV005863312

NM_000548.5(TSC2):c.1258-8T>G SNV
Germline
Chr16:2062489 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA718901844 rs_1175574879

3 SubmittersRCV001463616RCV003238255

NM_000548.5(TSC2):c.1258-5G>A SNV
Germline
Chr16:2062492 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA915946235 rs_925954967

2 SubmittersRCV001399821RCV004584841

NM_000548.5(TSC2):c.400G>T (p.Glu134Ter) SNV
Unknown
Chr16:2054359 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394306983 rs_1555497641

1 SubmittersRCV000989414

NM_000548.5(TSC2):c.1717-2A>C SNV
Unknown
Chr16:2070454 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394272616 rs_1596335963

1 SubmittersRCV000989421

NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter) SNV
Unknown
Chr16:2072978 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394276705 rs_751172150

1 SubmittersRCV000989425

NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter) SNV
Unknown
Chr16:2074345 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394277837 rs_1596356898

1 SubmittersRCV000989427

NM_000548.5(TSC2):c.4005+1G>A SNV
Germline
Chr16:2083817 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394297876 rs_45517324

4 SubmittersRCV000989433RCV005253664

NM_000548.5(TSC2):c.4005+2T>C SNV
Unknown
Chr16:2083818 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394297889 rs_137854254

1 SubmittersRCV000989434

NM_000548.5(TSC2):c.2356-1G>T SNV
Germline
Chr16:2074199 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394276920 rs_45481704

3 SubmittersRCV000993369RCV003626650RCV006287324

NM_000548.5(TSC2):c.4006-1G>C SNV
Germline
Chr16:2084227 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394299111 rs_1085307853

3 SubmittersRCV000993371RCV003512094

NM_000368.5(TSC1):c.1998-2A>C SNV
Germline
Chr9:132904456 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375361551 rs_1057518217

2 SubmittersRCV000999259RCV003505153

NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) SNV
Germline
Chr16:2050470 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA276769443 rs_1013995962

5 SubmittersRCV000999527RCV001235307RCV002416286RCV002497316

NM_000548.5(TSC2):c.3874T>C (p.Ser1292Pro) SNV
Germline
Chr16:2082495 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394295227 rs_1166042912

2 SubmittersRCV001858828RCV002354904

NM_000548.5(TSC2):c.2377G>T (p.Glu793Ter) SNV
Germline
Chr16:2074221 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394277020 rs_1596356248

3 SubmittersRCV001008684RCV001211891

NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) SNV
Germline
Chr9:132896313 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA036855 rs_756737864

4 SubmittersRCV001020248RCV001209377RCV001759703

NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) SNV
Germline
Chr9:132897341 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA375368943 rs_1588290078

5 SubmittersRCV001016672RCV001250431RCV002307655

NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter) SNV
Germline
Chr9:132900789 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375370147 rs_1588297391

2 SubmittersRCV001015906RCV001860807

NM_000368.5(TSC1):c.2117G>A (p.Arg706His) SNV
Germline
Chr9:132903742 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375361015 rs_1588304158

5 SubmittersRCV001014317RCV001299229RCV003473572RCV004773219

NM_000368.5(TSC1):c.2033A>T (p.His678Leu) SNV
Germline
Chr9:132904419 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200887452 rs_745413532

4 SubmittersRCV001014151RCV001069932RCV004998541

NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) SNV
Germline
Chr9:132905801 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375363611 rs_118203581

4 SubmittersRCV001013107RCV001344396RCV001766831

NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile) SNV
Germline
Chr9:132905857 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA200888593 rs_548002938

3 SubmittersRCV001012848RCV001049618

NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) SNV
Germline
Chr9:132905858 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375363992 rs_1454859974

5 SubmittersRCV001012843RCV001223997RCV004004519

NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser) SNV
Germline
Chr9:132905993 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375364926 rs_751125011

2 SubmittersRCV001012295RCV002549365

NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu) SNV
Germline
Chr9:132906016 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200888998 rs_759379027

4 SubmittersRCV001012194RCV001219201RCV004004507

NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro) SNV
Germline
Chr9:132911065 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367645 rs_201738258

4 SubmittersRCV001009859RCV001226646RCV004803345

NM_000368.5(TSC1):c.1026A>G (p.Pro342=) SNV
Germline
Chr9:132911456 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467593431 rs_1588324071

6 SubmittersRCV001017014RCV001421596RCV004597946

NM_000368.5(TSC1):c.931C>A (p.Pro311Thr) SNV
Germline
Chr9:132911551 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375368730 rs_1332186256

3 SubmittersRCV001019167RCV001203395

NM_000368.5(TSC1):c.591C>T (p.Cys197=) SNV
Germline
Chr9:132921891 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA467593798 rs_1588347154

2 SubmittersRCV001024684RCV006556945

NM_000368.5(TSC1):c.391A>G (p.Thr131Ala) SNV
Germline
Chr9:132923465 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375373652 rs_1564499857

4 SubmittersRCV001021433RCV001220081RCV005255639

NM_000368.5(TSC1):c.291A>G (p.Ile97Met) SNV
Germline
Chr9:132925659 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375374564 rs_1588355427

4 SubmittersRCV001016931RCV003988858RCV004726784

NM_000368.5(TSC1):c.38T>C (p.Met13Thr) SNV
Germline
Chr9:132928835 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200902500 rs_1041071543

5 SubmittersRCV001021393RCV001053574RCV004004615RCV004998561

NM_000368.5(TSC1):c.22G>A (p.Gly8Arg) SNV
Germline
Chr9:132928851 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA032066 rs_773784532

3 SubmittersRCV001015114RCV002479210RCV002551774

NM_000548.5(TSC2):c.153A>T (p.Glu51Asp) SNV
Germline
Chr16:2050414 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA031035 rs_746366461

4 SubmittersRCV001011988RCV001860687RCV003461322

NM_000548.5(TSC2):c.674T>C (p.Val225Ala) SNV
Germline
Chr16:2056669 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394312473 rs_1437259556

3 SubmittersRCV001025611RCV001221065

NM_000548.5(TSC2):c.707T>C (p.Leu236Pro) SNV
Germline
Chr16:2056702 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394312705 rs_1596278377

2 SubmittersRCV001026014RCV001862350

NM_000548.5(TSC2):c.923G>A (p.Arg308Gln) SNV
Germline
Chr16:2058821 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394315408 rs_1213252028

4 SubmittersRCV001019063RCV001342322RCV005021329

NM_000548.5(TSC2):c.1169C>T (p.Thr390Met) SNV
Germline
Chr16:2061920 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394320314 rs_1596303442

4 SubmittersRCV001010094RCV001210022RCV004004481

NM_000548.5(TSC2):c.1205G>A (p.Gly402Glu) SNV
Germline
Chr16:2061956 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028785 rs_777172185

5 SubmittersRCV001010301RCV004569867RCV005093058RCV006545762

NM_000548.5(TSC2):c.1309G>C (p.Ala437Pro) SNV
Germline
Chr16:2062548 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029303 rs_764967942

6 SubmittersRCV001010887RCV001062574RCV002223966RCV004004492

NM_000548.5(TSC2):c.1553G>T (p.Gly518Val) SNV
Germline
Chr16:2064381 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394326467 rs_1229407025

5 SubmittersRCV001012096RCV001056422RCV004803350RCV005639235

NM_000548.5(TSC2):c.1676A>T (p.Asp559Val) SNV
Germline
Chr16:2065595 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA032194 rs_767619776

4 SubmittersRCV001012610RCV002549372RCV003332281

NM_000548.5(TSC2):c.1685C>T (p.Thr562Ile) SNV
Germline
Chr16:2065604 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394270539 rs_1463643429

5 SubmittersRCV001012729RCV001321917RCV004004515RCV005639236

NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala) SNV
Germline
Chr16:2070468 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394272689 rs_1204749633

5 SubmittersRCV001012871RCV001201908RCV003327477

NM_000548.5(TSC2):c.2014C>T (p.Pro672Ser) SNV
Germline
Chr16:2071851 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
not specified
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394274480 rs_1262368552

6 SubmittersRCV001014084RCV001054876RCV003117691RCV003994192RCV005021326

NM_000548.5(TSC2):c.2096A>G (p.Gln699Arg) SNV
Germline
Chr16:2071933 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394274732 rs_1596345229

4 SubmittersRCV001014414RCV001212996RCV004004532

NM_000548.5(TSC2):c.2849C>T (p.Ala950Val) SNV
Germline
Chr16:2077609 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA042406 rs_780737734

4 SubmittersRCV001016781RCV001308492

NM_000548.5(TSC2):c.2884C>G (p.Pro962Ala) SNV
Germline
Chr16:2077644 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394281032 rs_1477697117

2 SubmittersRCV001016854RCV001860843

NM_000548.5(TSC2):c.2901G>T (p.Lys967Asn) SNV
Germline
Chr16:2077661 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394281176 rs_1168031047

5 SubmittersRCV001016919RCV001240521RCV001508400RCV004004561

NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) SNV
Germline
Chr16:2079057 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394283691 rs_1440361406

6 SubmittersRCV001017831RCV001239016RCV001805973RCV004004568RCV003461364

NM_000548.5(TSC2):c.3144C>T (p.Gly1048=) SNV
Germline
Chr16:2079288 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044597 rs_772640324

5 SubmittersRCV001018805RCV001055452RCV002264143RCV006545773

NM_000548.5(TSC2):c.3192C>G (p.Asn1064Lys) SNV
Germline
Chr16:2079336 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394285620 rs_201670791

6 SubmittersRCV001019085RCV001051568RCV003329362RCV006545774

NM_000548.5(TSC2):c.3292C>T (p.Pro1098Ser) SNV
Germline
Chr16:2079564 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA045567 rs_772686090

5 SubmittersRCV001019713RCV001045100RCV004004590

NM_000548.5(TSC2):c.3493A>G (p.Lys1165Glu) SNV
Germline
Chr16:2080260 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA047198 rs_375444767

3 SubmittersRCV001020436RCV001229307

NM_000548.5(TSC2):c.3505G>A (p.Ala1169Thr) SNV
Germline
Chr16:2080272 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047242 rs_773900333

5 SubmittersRCV001020474RCV001035302RCV001759705RCV004803366

NM_000548.5(TSC2):c.3745C>T (p.Leu1249=) SNV
Germline
Chr16:2081729 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA493043177 rs_1596400436

5 SubmittersRCV001021026RCV001392364RCV003325531

NM_000548.5(TSC2):c.3817G>A (p.Ala1273Thr) SNV
Germline
Chr16:2082438 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394294776 rs_1596404280

5 SubmittersRCV001021222RCV001226599RCV003117698RCV004803370

NM_000548.5(TSC2):c.3835T>C (p.Tyr1279His) SNV
Germline
Chr16:2082456 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394294880 rs_1449727037

4 SubmittersRCV001021252RCV001046033RCV004004612

NM_000548.5(TSC2):c.3867G>C (p.Arg1289Ser) SNV
Germline
Chr16:2082488 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394295153 rs_1008733639

4 SubmittersRCV001021319RCV001047548RCV006545779

NM_000548.5(TSC2):c.3928G>A (p.Val1310Met) SNV
Germline
Chr16:2083739 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276752763 rs_1046522975

3 SubmittersRCV001021456RCV001049677

NM_000548.5(TSC2):c.4485C>G (p.Ile1495Met) SNV
Germline
Chr16:2084707 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276753631 rs_1030218603

5 SubmittersRCV001022559RCV001059810RCV001567350

NM_000548.5(TSC2):c.4636G>A (p.Ala1546Thr) SNV
Germline
Chr16:2085296 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394304918 rs_1332979299

4 SubmittersRCV001022821RCV001066426RCV005626299

NM_000548.5(TSC2):c.4795G>C (p.Val1599Leu) SNV
Germline
Chr16:2086325 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394308011 rs_772687631

6 SubmittersRCV001023059RCV001035577RCV002550880RCV004570014

NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val) SNV
Germline
Chr16:2086743 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394308262 rs_1555516628

5 SubmittersRCV001023167RCV001067636RCV001578205RCV003467673

NM_000548.5(TSC2):c.5209C>G (p.Pro1737Ala) SNV
Germline
Chr16:2088275 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394314331 rs_780112037

2 SubmittersRCV001023728RCV002551879

NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser) SNV
Germline
Chr16:2088285 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394314459 rs_137854219

6 SubmittersRCV001023747RCV001061035RCV001772198RCV004004640

NM_000548.5(TSC2):c.5279A>G (p.Tyr1760Cys) SNV
Germline
Chr16:2088465 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394315180 rs_1261020269

4 SubmittersRCV001023848RCV001318099RCV004004641

NM_000368.5(TSC1):c.2503-4T>G SNV
Germline
Chr9:132900841 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA033190 rs_772414581

3 SubmittersRCV001015735RCV001413351

NM_000548.5(TSC2):c.2220+5C>T SNV
Germline
Chr16:2072368 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA620375125 rs_1164941572

3 SubmittersRCV001014840RCV001305668

NM_000548.5(TSC2):c.3285-3C>A SNV
Germline
Chr16:2079554 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA045452 rs_781023043

3 SubmittersRCV001019663RCV001206068

NM_000548.5(TSC2):c.4006-5T>C SNV
Germline
Chr16:2084223 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA915946301 rs_1596415173

4 SubmittersRCV001021645RCV002549541RCV004803373

NM_000548.5(TSC2):c.4850-5C>T SNV
Germline
Chr16:2086727 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA915946315 rs_1596442866

2 SubmittersRCV001023150RCV005093229

NM_000548.5(TSC2):c.5161-5C>G SNV
Germline
Chr16:2088222 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA620705063 rs_775534948

5 SubmittersRCV001023642RCV001064031RCV005432531RCV006545784

NM_000548.5(TSC2):c.5161-5C>T SNV
Germline
Chr16:2088222 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054284 rs_775534948

4 SubmittersRCV001023643RCV003512103RCV004004638

NM_000368.5(TSC1):c.3325A>G (p.Met1109Val) SNV
Germline
Chr9:132896405 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366614 rs_1845043842

2 SubmittersRCV001045909RCV002320262

NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr) SNV
Germline
Chr9:132896530 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375367041 rs_1167362899

3 SubmittersRCV001062113RCV003128745RCV004030445

NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg) SNV
Germline
Chr9:132896615 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367380 rs_1490199228

4 SubmittersRCV001069522RCV002320347RCV004777966RCV006545873

NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) SNV
Germline
Chr9:132896656 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367580 rs_1845081620

3 SubmittersRCV001050580RCV002319654RCV004000038

NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser) SNV
Germline
Chr9:132896669 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA375367646 rs_1845082934

3 SubmittersRCV001060516RCV005503003RCV005436975

NM_000368.5(TSC1):c.2987G>A (p.Cys996Tyr) SNV
Germline
Chr9:132896743 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA035478 rs_771810884

2 SubmittersRCV001036653RCV004030995

NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) SNV
Germline
Chr9:132897224 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375368426 rs_1845118974

4 SubmittersRCV001036153RCV002434429RCV004803389

NM_000368.5(TSC1):c.2880G>A (p.Leu960=) SNV
Germline
Chr9:132897279 Conflicting classifications of pathogenicity Tuberous sclerosis 1 Criteria Provided
Conflicting Classifications
CA467812669 rs_1845126730

2 SubmittersRCV001038241

NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser) SNV
Germline
Chr9:132897318 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375368895 rs_1417111404

3 SubmittersRCV001059540RCV002505623RCV004031886

NM_000368.5(TSC1):c.2680C>T (p.His894Tyr) SNV
Germline
Chr9:132897556 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375369500 rs_1845148693

3 SubmittersRCV001034997RCV002427478RCV004570087

NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter) SNV
Germline
Chr9:132900735 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375369900 rs_1845327789

1 SubmittersRCV001065555

NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter) SNV
Germline
Chr9:132900750 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375369975 rs_1845328711

1 SubmittersRCV001042431

NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp) SNV
Germline
Chr9:132901678 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375358712 rs_1845380748

3 SubmittersRCV001062096RCV002253766RCV004678941

NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) SNV
Germline
Chr9:132903808 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375361153 rs_1845511359

3 SubmittersRCV001045691RCV002416367RCV003462533

NM_000368.5(TSC1):c.2048C>G (p.Pro683Arg) SNV
Germline
Chr9:132903811 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375361158 rs_1413960643

2 SubmittersRCV001044312RCV005286279

NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter) SNV
Germline
Chr9:132905901 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375364280 rs_368317116

1 SubmittersRCV001035781

NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu) SNV
Germline
Chr9:132905910 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375364342 rs_1845637294

3 SubmittersRCV001035719RCV002400213RCV004721713

NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) SNV
Germline
Chr9:132907307 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Intellectual disability
Criteria Provided
Conflicting Classifications
CA028063 rs_760470520

6 SubmittersRCV001071789RCV002307679RCV004678953RCV005626325

NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) SNV
Germline
Chr9:132910668 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027210 rs_752575728

4 SubmittersRCV001040683RCV003372945RCV004803394

NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) SNV
Germline
Chr9:132911017 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
not specified
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375367342 rs_1461609607

7 SubmittersRCV001063459RCV002445329RCV002479373RCV003155351RCV004000134RCV004998629

NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) SNV
Germline
Chr9:132912309 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039361 rs_750890263

3 SubmittersRCV001068118RCV002276612RCV003307919

NM_000368.5(TSC1):c.880A>G (p.Thr294Ala) SNV
Germline
Chr9:132912315 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375369118 rs_1588326742

4 SubmittersRCV001059923RCV002374946RCV004803419

NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter) SNV
Germline
Chr9:132912382 Pathogenic Tuberous sclerosis 1
Condition: not provided
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA375369423 rs_118203452

3 SubmittersRCV001042216RCV002462271RCV004584416

NM_000368.5(TSC1):c.806C>A (p.Ala269Asp) SNV
Germline
Chr9:132912389 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375369454 rs_1347033062

2 SubmittersRCV001069395RCV003307930

NM_000368.5(TSC1):c.740G>A (p.Trp247Ter) SNV
Germline
Chr9:132912455 Pathogenic Tuberous sclerosis 1
TSC1-related disorder
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA375369745 rs_1846020610

5 SubmittersRCV001052243RCV004746218RCV004998609RCV005298683

NM_000368.5(TSC1):c.641A>G (p.Glu214Gly) SNV
Germline
Chr9:132921841 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA375372319 rs_1483354391

3 SubmittersRCV001039602RCV003307817RCV005408658

NM_000368.5(TSC1):c.298C>T (p.Gln100Ter) SNV
Germline
Chr9:132925652 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375374538 rs_1846813509

1 SubmittersRCV001038098

NM_000368.5(TSC1):c.125T>A (p.Val42Glu) SNV
Germline
Chr9:132927286 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375204 rs_1846926218

1 SubmittersRCV001043370

NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) SNV
Germline
Chr9:132928776 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375375270 rs_1847031671

4 SubmittersRCV001067609RCV002379604RCV004000168RCV003462604

NM_000548.5(TSC2):c.95A>G (p.Glu32Gly) SNV
Germline
Chr16:2048710 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394301421 rs_1482573368

2 SubmittersRCV001070398RCV002379624

NM_000548.5(TSC2):c.178A>G (p.Met60Val) SNV
Germline
Chr16:2050439 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276769392 rs_1053960780

2 SubmittersRCV001059775RCV004031897

NM_000548.5(TSC2):c.311T>C (p.Leu104Pro) SNV
Germline
Chr16:2053427 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394305921 rs_2085373985

1 SubmittersRCV001065161

NM_000548.5(TSC2):c.529C>T (p.Leu177Phe) SNV
Germline
Chr16:2055449 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394309356 rs_867879148

2 SubmittersRCV001054854RCV004031734

NM_000548.5(TSC2):c.567T>A (p.Cys189Ter) SNV
Germline
Chr16:2055487 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394309631 rs_2085669104

1 SubmittersRCV001040877

NM_000548.5(TSC2):c.865G>A (p.Ala289Thr) SNV
Germline
Chr16:2058763 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA056616 rs_750060649

2 SubmittersRCV001045028RCV002372787

NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) SNV
Germline
Chr16:2061946 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA028736 rs_773920155

6 SubmittersRCV001069408RCV003442199RCV003353149RCV003462611RCV004000184

NM_000548.5(TSC2):c.1389C>G (p.Ile463Met) SNV
Germline
Chr16:2062999 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394323756 rs_1188230416

5 SubmittersRCV001039016RCV002391108RCV003461445RCV004004723

NM_000548.5(TSC2):c.1391A>G (p.Lys464Arg) SNV
Germline
Chr16:2063001 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276778125 rs_1033108057

3 SubmittersRCV001052610RCV002393264RCV004803411

NM_000548.5(TSC2):c.1393G>A (p.Val465Met) SNV
Germline
Chr16:2063003 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030063 rs_758874054

3 SubmittersRCV001052755RCV002393267RCV004803412

NM_000548.5(TSC2):c.1520T>C (p.Leu507Pro) SNV
Germline
Chr16:2064348 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394326221 rs_1413063599

3 SubmittersRCV001066940RCV003380838RCV004000163

NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala) SNV
Germline
Chr16:2064389 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394326532 rs_1279109316

3 SubmittersRCV001054991RCV002481995RCV004950192

NM_000548.5(TSC2):c.1562C>G (p.Thr521Arg) SNV
Germline
Chr16:2064390 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394326543 rs_1378972928

4 SubmittersRCV001049327RCV002400278RCV003128740

NM_000548.5(TSC2):c.1591A>G (p.Ile531Val) SNV
Germline
Chr16:2064419 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394326754 rs_1309168496

3 SubmittersRCV001071161RCV002402484RCV005021425

NM_000548.5(TSC2):c.1594G>C (p.Glu532Gln) SNV
Germline
Chr16:2064422 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA031157 rs_149222396

5 SubmittersRCV001039944RCV001772222RCV002400234RCV006545803

NM_000548.5(TSC2):c.1636G>T (p.Glu546Ter) SNV
Germline
Chr16:2065555 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394267832 rs_2087230941

1 SubmittersRCV001044510

NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) SNV
Germline
Chr16:2065571 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394267993 rs_1465307943

5 SubmittersRCV001042603RCV002481897RCV003160290RCV003457916RCV004004752

NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro) SNV
Germline
Chr16:2065582 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
not specified
Criteria Provided
Conflicting Classifications
CA032134 rs_763183991

6 SubmittersRCV001042973RCV002400249RCV003461460RCV004803398RCV005021360RCV006269286

NM_000548.5(TSC2):c.1729A>T (p.Thr577Ser) SNV
Germline
Chr16:2070468 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394272687 rs_1204749633

3 SubmittersRCV001045957RCV002400264RCV004803404

NM_000548.5(TSC2):c.1748C>T (p.Ala583Val) SNV
Germline
Chr16:2070487 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA033283 rs_763863196

7 SubmittersRCV001041472RCV001578178RCV002400245RCV004004741RCV004735934

NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly) SNV
Germline
Chr16:2070492 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394272814 rs_370324876

4 SubmittersRCV001060310RCV002402431RCV002489661RCV004726849

NM_000548.5(TSC2):c.1762G>T (p.Glu588Ter) SNV
Germline
Chr16:2070501 Pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394272860 rs_1596336374

2 SubmittersRCV001050047RCV002409428

NM_000548.5(TSC2):c.1897A>C (p.Asn633His) SNV
Germline
Chr16:2071567 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394273143 rs_1462660984

2 SubmittersRCV001049821RCV003307851

NM_000548.5(TSC2):c.1933G>T (p.Val645Phe) SNV
Germline
Chr16:2071603 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA034596 rs_746677177

5 SubmittersRCV001039993RCV002258095RCV003328646RCV003461450

NM_000548.5(TSC2):c.1984C>T (p.Pro662Ser) SNV
Germline
Chr16:2071821 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394274386 rs_1309151152

3 SubmittersRCV001044607RCV004004772RCV005502984

NM_000548.5(TSC2):c.2048C>A (p.Ser683Tyr) SNV
Germline
Chr16:2071885 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276737795 rs_919334398

3 SubmittersRCV001064910RCV005021406RCV005512893

NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala) SNV
Germline
Chr16:2072287 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA276738276 rs_763351805

3 SubmittersRCV001070107RCV002429741RCV003462614

NM_000548.5(TSC2):c.2196G>C (p.Gln732His) SNV
Germline
Chr16:2072339 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA037063 rs_765646245

5 SubmittersRCV001044049RCV002416360RCV004803400RCV004726823

NM_000548.5(TSC2):c.2327A>G (p.Tyr776Cys) SNV
Germline
Chr16:2072955 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038405 rs_766382381

2 SubmittersRCV001051826RCV005749708

NM_000548.5(TSC2):c.2330A>G (p.His777Arg) SNV
Germline
Chr16:2072958 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038433 rs_759528809

6 SubmittersRCV001047125RCV001759768RCV002451188RCV004004784

NM_000548.5(TSC2):c.2351A>G (p.Lys784Arg) SNV
Germline
Chr16:2072979 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394276707 rs_1489548085

4 SubmittersRCV001053242RCV002445284RCV004000060RCV006261302

NM_000548.5(TSC2):c.2355G>A (p.Gln785=) SNV
Germline
Chr16:2072983 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492952751 rs_2088708544

6 SubmittersRCV001036320RCV001509506RCV005056807

NM_000548.5(TSC2):c.2564A>G (p.His855Arg) SNV
Germline
Chr16:2075817 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394278326 rs_1424946987

3 SubmittersRCV001034957RCV002427477RCV005232067

NM_000548.5(TSC2):c.2572A>G (p.Arg858Gly) SNV
Germline
Chr16:2075825 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394278352 rs_2089261730

3 SubmittersRCV001049089RCV005286285RCV006545824

NM_000548.5(TSC2):c.2600G>A (p.Ser867Asn) SNV
Germline
Chr16:2075853 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA040228 rs_751702841

2 SubmittersRCV001045618RCV002429609

NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp) SNV
Germline
Chr16:2075876 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394278455 rs_2089272680

1 SubmittersRCV001050170

NM_000548.5(TSC2):c.2632C>G (p.Pro878Ala) SNV
Germline
Chr16:2075885 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276741564 rs_397515077

3 SubmittersRCV001071989RCV002451312RCV003992440

NM_000548.5(TSC2):c.2656G>A (p.Val886Met) SNV
Germline
Chr16:2076084 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Condition: not provided
Congenital anomaly of kidney and urinary tract
Criteria Provided
Conflicting Classifications
CA276741693 rs_999523698

6 SubmittersRCV001045541RCV003307839RCV003462532RCV004004778RCV004590050RCV005626308

NM_000548.5(TSC2):c.2915C>T (p.Ala972Val) SNV
Germline
Chr16:2077675 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394281289 rs_2089590552

2 SubmittersRCV001059121RCV004031866

NM_000548.5(TSC2):c.2920G>A (p.Ala974Thr) SNV
Germline
Chr16:2077680 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276743978 rs_556778889

2 SubmittersRCV001053966RCV002436612

NM_000548.5(TSC2):c.2944G>T (p.Val982Leu) SNV
Germline
Chr16:2077704 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA042926 rs_773864188

4 SubmittersRCV001049127RCV004004792RCV004678914RCV004998606

NM_000548.5(TSC2):c.2964C>T (p.Arg988=) SNV
Germline
Chr16:2077724 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Acute myeloid leukemia
Criteria Provided
Conflicting Classifications
CA043060 rs_757274577

4 SubmittersRCV001037965RCV003380804RCV006545798RCV005603682

NM_000548.5(TSC2):c.3002G>T (p.Gly1001Val) SNV
Germline
Chr16:2079067 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA043753 rs_368878445

2 SubmittersRCV001041579RCV002436554

NM_000548.5(TSC2):c.3096A>G (p.Arg1032=) SNV
Germline
Chr16:2079161 Likely pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA493042763 rs_2089803859

2 SubmittersRCV001056118RCV004031775

NM_000548.5(TSC2):c.3193A>C (p.Lys1065Gln) SNV
Germline
Chr16:2079337 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA044710 rs_751955670

3 SubmittersRCV001059859

NM_000548.5(TSC2):c.3298G>A (p.Val1100Met) SNV
Germline
Chr16:2079570 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA394286490 rs_1596385749

4 SubmittersRCV001051401RCV002451212RCV004000044RCV005021375

NM_000548.5(TSC2):c.3725A>G (p.Lys1242Arg) SNV
Germline
Chr16:2081709 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394292811 rs_1567510728

3 SubmittersRCV001071626RCV002348488RCV006545882

NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala) SNV
Germline
Chr16:2081762 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394293377 rs_1310948800

3 SubmittersRCV001037138RCV001119240

NM_000548.5(TSC2):c.3830C>T (p.Ser1277Phe) SNV
Germline
Chr16:2082451 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394294865 rs_1330915229

3 SubmittersRCV001059042RCV004000108RCV004678934

NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr) SNV
Germline
Chr16:2083788 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA394297583 rs_2090429801

3 SubmittersRCV001051800RCV002374909RCV002481965

NM_000548.5(TSC2):c.4051G>T (p.Glu1351Ter) SNV
Germline
Chr16:2084273 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394299330 rs_878854101

1 SubmittersRCV001069106

NM_000548.5(TSC2):c.4090T>G (p.Ser1364Ala) SNV
Germline
Chr16:2084312 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394299461 rs_756957699

4 SubmittersRCV001053848RCV002320295RCV004000064

NM_000548.5(TSC2):c.4207G>T (p.Asp1403Tyr) SNV
Germline
Chr16:2084429 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394299923 rs_1288307487

2 SubmittersRCV001069476RCV004030714

NM_000548.5(TSC2):c.4246G>T (p.Ala1416Ser) SNV
Germline
Chr16:2084468 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA276753373 rs_1001211672

3 SubmittersRCV001057820RCV002327326RCV005021393

NM_000548.5(TSC2):c.4279A>G (p.Ser1427Gly) SNV
Germline
Chr16:2084501 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394300822 rs_1248855623

4 SubmittersRCV001038396RCV003307814

NM_000548.5(TSC2):c.4635C>G (p.Ile1545Met) SNV
Germline
Chr16:2085295 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394304898 rs_757388437

3 SubmittersRCV001040088RCV001813810RCV002339198

NM_000548.5(TSC2):c.4659C>T (p.Gly1553=) SNV
Germline
Chr16:2085319 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276755061 rs_202212109

4 SubmittersRCV001035239RCV002327245RCV003226995RCV004803387

NM_000548.5(TSC2):c.4722C>G (p.Phe1574Leu) SNV
Germline
Chr16:2086252 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394307501 rs_565576095

2 SubmittersRCV001064798RCV002339323

NM_000548.5(TSC2):c.4727C>A (p.Thr1576Lys) SNV
Germline
Chr16:2086257 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA052372 rs_45437192

4 SubmittersRCV001040921RCV002339202RCV004004738

NM_000548.5(TSC2):c.4739G>A (p.Arg1580Gln) SNV
Germline
Chr16:2086269 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394307634 rs_1371745883

3 SubmittersRCV001037835RCV002337101RCV004803392

NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly) SNV
Germline
Chr16:2086768 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA053023 rs_767444397

4 SubmittersRCV001047283RCV002339238RCV003462537

NM_000548.5(TSC2):c.5067A>G (p.Lys1689=) SNV
Germline
Chr16:2087940 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276758652 rs_1018327394

4 SubmittersRCV001070084RCV002348482RCV004998636RCV005012530

NM_000548.5(TSC2):c.5071A>G (p.Met1691Val) SNV
Germline
Chr16:2088050 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA053878 rs_767809848

4 SubmittersRCV001039326RCV002339196RCV004998588RCV006554602

NM_000548.5(TSC2):c.5117G>T (p.Arg1706Leu) SNV
Germline
Chr16:2088096 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394312358 rs_45517392

2 SubmittersRCV001048043RCV002348383

NM_000548.5(TSC2):c.5309C>T (p.Pro1770Leu) SNV
Germline
Chr16:2088495 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394315411 rs_771357054

2 SubmittersRCV001059633RCV003353135

NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp) SNV
Germline
Chr16:2088563 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394315971 rs_1473538868

4 SubmittersRCV001066607RCV001788415RCV002348463

NM_000548.5(TSC2):c.5381A>G (p.Lys1794Arg) SNV
Germline
Chr16:2088567 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055265 rs_756064266

3 SubmittersRCV001064564RCV002348458RCV004803424

NM_000548.5(TSC2):c.1947-2A>C SNV
Germline
Chr16:2071782 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394273528 rs_45517207

2 SubmittersRCV001036353RCV006287328

NM_000548.5(TSC2):c.5069-3C>T SNV
Germline
Chr16:2088045 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA916081799 rs_2091085832

3 SubmittersRCV001058085RCV004000097RCV004678932

NM_000368.5(TSC1):c.2813+2T>G SNV
Germline
Chr9:132897421 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375368967 rs_1845135533

1 SubmittersRCV001048055

NM_000548.5(TSC2):c.4662+1G>C SNV
Germline
Chr16:2085323 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394305126 rs_45514095

1 SubmittersRCV001065003

NM_000368.5(TSC1):c.1439-7C>A SNV
Germline
Chr9:132906146 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA916081571 rs_1588311354

2 SubmittersRCV001052142RCV004000048

NM_000548.5(TSC2):c.139-2A>G SNV
Germline
Chr16:2050398 Pathogenic Tuberous sclerosis 2 Criteria Provided
Multiple Submitters
No Conflicts
CA394303037 rs_2084954667

2 SubmittersRCV001069910

NM_000548.5(TSC2):c.1840-6T>A SNV
Germline
Chr16:2071504 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA916081760 rs_747952317

4 SubmittersRCV001068290RCV004000175RCV004797899

NM_000548.5(TSC2):c.3284+3G>A SNV
Germline
Chr16:2079431 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA916081789 rs_2089847916

3 SubmittersRCV001067398RCV002445348

NM_000548.5(TSC2):c.5259+4G>A SNV
Germline
Chr16:2088329 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA916081801 rs_2091153561

2 SubmittersRCV001065630RCV003326536

NM_000548.5(TSC2):c.540G>A (p.Leu180=) SNV
Germline
Chr16:2055460 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492955795 rs_1567403619

5 SubmittersRCV001340217RCV004000214RCV004678954

NM_000548.5(TSC2):c.1361+1G>T SNV
Germline
Chr16:2062601 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394323421 rs_45517164

2 SubmittersRCV001091439RCV003130153

NM_000548.5(TSC2):c.1821G>C (p.Ala607=) SNV
Germline
Chr16:2070560 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492949893 rs_149543046

3 SubmittersRCV001119051RCV005093538

NM_000548.5(TSC2):c.3945A>G (p.Pro1315=) SNV
Germline
Chr16:2083756 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492956580 rs_1811018177

4 SubmittersRCV001116327RCV002069874RCV004950294

NM_000548.5(TSC2):c.848+5G>T SNV
Germline
Chr16:2057183 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA912995563 rs_1370989559

3 SubmittersRCV001117343RCV002556497RCV002445389

NM_000548.5(TSC2):c.2545+3G>A SNV
Germline
Chr16:2074392 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA1139664315 rs_2088950824

2 SubmittersRCV001121134RCV005621077

NM_000548.5(TSC2):c.5259+15G>A SNV
Germline
Chr16:2088340 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA054621 rs_373209496

2 SubmittersRCV001117885RCV002069903

NM_000368.5(TSC1):c.*4680G>T SNV
Germline
Chr9:132891555 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200921734 rs_747969932

2 SubmittersRCV001168286RCV001166550RCV003433070

NM_000368.5(TSC1):c.*1355C>A SNV
Germline
Chr9:132894880 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200924544 rs_749683153

2 SubmittersRCV001168584RCV001168585RCV003425974

NM_000548.5(TSC2):c.965C>A (p.Ser322Ter) SNV
Germline
Chr16:2058863 Pathogenic Tuberous sclerosis 2 No Assertion Criteria Provided
CA394315788 rs_1345813917

1 SubmittersRCV001194692

NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter) SNV
Germline
Chr16:2086202 Pathogenic Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Single Submitter
CA394306927 rs_45517360

2 SubmittersRCV001194688RCV004538431

NM_000548.5(TSC2):c.1119+129G>T SNV
Germline
Chr16:2060942 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA1139664338 rs_1001221917

1 SubmittersRCV002267081

NM_000548.5(TSC2):c.3132-13C>T SNV
Germline
Chr16:2079263 Conflicting classifications of pathogenicity Lymphangiomyomatosis
Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044431 rs_371948435

5 SubmittersRCV001196191RCV001562061RCV002071848RCV006545927

NM_000548.5(TSC2):c.3132-3T>C SNV
Germline
Chr16:2079273 Conflicting classifications of pathogenicity Lymphangiomyomatosis
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1139664248 rs_2089821106

3 SubmittersRCV001197802RCV003512110RCV005512929

NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter) SNV
Germline
Chr9:132903758 Pathogenic Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375361051 rs_1845504382

3 SubmittersRCV001199386RCV001508277

NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter) SNV
Germline
Chr9:132905582 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375362214 rs_1845604585

2 SubmittersRCV001199385

NM_000368.5(TSC1):c.664-2A>G SNV
Germline
Chr9:132921438 Pathogenic Tuberous sclerosis 1 No Assertion Criteria Provided
CA375371557 rs_1846550204

1 SubmittersRCV001199395

NM_000368.5(TSC1):c.364-2A>G SNV
Germline
Chr9:132923494 Pathogenic/Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375373792 rs_1846685279

3 SubmittersRCV001199393

NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) SNV
Germline
Chr9:132896336 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375366460 rs_1249897804

5 SubmittersRCV001223518RCV002451523RCV002480737RCV004004798RCV006258461

NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile) SNV
Germline
Chr9:132896403 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366607 rs_1845043593

4 SubmittersRCV001222947RCV004679009

NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) SNV
Germline
Chr9:132896462 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA036285 rs_776694051

4 SubmittersRCV001216992RCV001751408RCV003163667

NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr) SNV
Germline
Chr9:132897592 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375369652 rs_1271658593

2 SubmittersRCV001222026RCV004679008

NM_000368.5(TSC1):c.1756T>C (p.Cys586Arg) SNV
Germline
Chr9:132905822 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA029644 rs_760356610

2 SubmittersRCV001218659RCV004032335

NM_000368.5(TSC1):c.1681A>G (p.Ser561Gly) SNV
Germline
Chr9:132905897 Conflicting classifications of pathogenicity Tuberous sclerosis 1
TSC1-related disorder
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375364250 rs_1845635382

3 SubmittersRCV001217549RCV004726981RCV005762208

NM_000368.5(TSC1):c.1255C>G (p.Pro419Ala) SNV
Germline
Chr9:132910579 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA027469 rs_765145057

2 SubmittersRCV001214224RCV004033925

NM_000548.5(TSC2):c.298G>A (p.Ala100Thr) SNV
Germline
Chr16:2053414 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA043637 rs_369314296

4 SubmittersRCV001222030RCV002436859RCV004803577RCV005021526

NM_000548.5(TSC2):c.518C>T (p.Ser173Phe) SNV
Germline
Chr16:2055438 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054357 rs_773662047

3 SubmittersRCV001220756RCV002339583RCV004010736

NM_000548.5(TSC2):c.582C>G (p.Tyr194Ter) SNV
Germline
Chr16:2055502 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394309794 rs_750174170

1 SubmittersRCV001224397

NM_000548.5(TSC2):c.897G>A (p.Val299=) SNV
Germline
Chr16:2058795 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492959654 rs_1382139812

5 SubmittersRCV001215924RCV002447089RCV004010706RCV004699204

NM_000548.5(TSC2):c.900C>T (p.Gly300=) SNV
Germline
Chr16:2058798 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492959666 rs_1415187475

4 SubmittersRCV001224868RCV002375216RCV004004805

NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys) SNV
Germline
Chr16:2060743 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394317802 rs_1567423240

4 SubmittersRCV001222189RCV001751427RCV002393537

NM_000548.5(TSC2):c.1095C>G (p.Ile365Met) SNV
Germline
Chr16:2060789 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394318218 rs_757135168

4 SubmittersRCV001224443RCV002451527RCV004803579

NM_000548.5(TSC2):c.1619C>T (p.Ser540Phe) SNV
Germline
Chr16:2065538 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394267686 rs_1296271407

3 SubmittersRCV001223052RCV002402691RCV004010747

NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro) SNV
Germline
Chr16:2075861 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394278427 rs_1060500975

1 SubmittersRCV001218321

NM_000548.5(TSC2):c.2639A>G (p.Lys880Arg) SNV
Germline
Chr16:2075892 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394278487 rs_2089276233

4 SubmittersRCV001218754RCV003163679RCV004010723RCV004726988

NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn) SNV
Germline
Chr16:2076528 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276742096 rs_144329595

9 SubmittersRCV001224033RCV001587251RCV002255633RCV002491707RCV004004804

NM_000548.5(TSC2):c.3239T>A (p.Leu1080Ter) SNV
Germline
Chr16:2079383 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394286063 rs_2089838149

1 SubmittersRCV001223302

NM_000548.5(TSC2):c.3281C>A (p.Ser1094Ter) SNV
Germline
Chr16:2079425 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394286305 rs_397514887

1 SubmittersRCV001223699

NM_000548.5(TSC2):c.4049A>T (p.Glu1350Val) SNV
Germline
Chr16:2084271 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394299324 rs_1378842608

4 SubmittersRCV001221723RCV002322074RCV004528422RCV004726995

NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) SNV
Germline
Chr16:2084645 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394302176 rs_1202676769

5 SubmittersRCV001214846RCV001773479RCV002327498RCV003462728

NM_000548.5(TSC2):c.4473A>C (p.Lys1491Asn) SNV
Germline
Chr16:2084695 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394302529 rs_1266546987

2 SubmittersRCV001218203RCV004950361

NM_000548.5(TSC2):c.4550C>T (p.Pro1517Leu) SNV
Germline
Chr16:2085007 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394303002 rs_1279603512

3 SubmittersRCV001222211RCV003163715RCV004010744

NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) SNV
Germline
Chr16:2086245 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Ovarian cancer
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394307430 rs_1327099376

5 SubmittersRCV001219284RCV002504273RCV003153948RCV003163686RCV004010725

NM_000548.5(TSC2):c.4998C>G (p.Phe1666Leu) SNV
Germline
Chr16:2087871 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394310991 rs_757221445

2 SubmittersRCV001225081RCV004032529

NM_000548.5(TSC2):c.5030A>C (p.Asp1677Ala) SNV
Germline
Chr16:2087903 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394311303 rs_1332296997

3 SubmittersRCV001218024RCV004034054RCV006545988

NM_000548.5(TSC2):c.5080C>T (p.Leu1694Phe) SNV
Germline
Chr16:2088059 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA053886 rs_760781650

3 SubmittersRCV001223544RCV004004799RCV004951355

NM_000548.5(TSC2):c.5288C>T (p.Pro1763Leu) SNV
Germline
Chr16:2088474 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA054957 rs_781139561

5 SubmittersRCV001216691RCV003380888RCV004570484RCV006554611

NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg) SNV
Germline
Chr16:2088495 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA055029 rs_771357054

3 SubmittersRCV001214576RCV003462727RCV004033932

NM_000551.4(VHL):c.264G>A (p.Trp88Ter) SNV
Germline
Chr3:10142111 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351750677 rs_869025622

5 SubmittersRCV001205532RCV003163557RCV005863372RCV005863371RCV006450904

NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter) SNV
Germline
Chr9:132902733 Pathogenic Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375359853 rs_1845452711

2 SubmittersRCV001207537RCV004998723

NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala) SNV
Germline
Chr9:132903791 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA031090 rs_752473063

3 SubmittersRCV001213498RCV002418730RCV002497727

NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter) SNV
Germline
Chr9:132905639 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375362535 rs_1171512070

1 SubmittersRCV001211168

NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn) SNV
Germline
Chr9:132905891 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375364210 rs_1554815931

2 SubmittersRCV001201526RCV002402568

NM_000368.5(TSC1):c.1336G>T (p.Glu446Ter) SNV
Germline
Chr9:132906833 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375366056 rs_1845700817

1 SubmittersRCV001204979

NM_000368.5(TSC1):c.863G>A (p.Arg288His) SNV
Germline
Chr9:132912332 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375369190 rs_1424366444

2 SubmittersRCV001206492RCV004033674

NM_000368.5(TSC1):c.698T>G (p.Leu233Ter) SNV
Germline
Chr9:132921402 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375371373 rs_1846545578

1 SubmittersRCV001208764

NM_000368.5(TSC1):c.611G>A (p.Arg204His) SNV
Germline
Chr9:132921871 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375372466 rs_397514834

5 SubmittersRCV001203672RCV006455518RCV002356876RCV003469328

NM_000368.5(TSC1):c.193C>T (p.Gln65Ter) SNV
Germline
Chr9:132927218 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375058 rs_1846915941

1 SubmittersRCV001211811

NM_000368.5(TSC1):c.191T>A (p.Leu64Ter) SNV
Germline
Chr9:132927220 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375065 rs_1846916239

1 SubmittersRCV001208919

NM_000548.5(TSC2):c.1168A>T (p.Thr390Ser) SNV
Germline
Chr16:2061919 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394320291 rs_2086688013

2 SubmittersRCV001213112RCV002327495

NM_000548.5(TSC2):c.1671G>A (p.Leu557=) SNV
Germline
Chr16:2065590 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA032181 rs_761975891

4 SubmittersRCV001209493RCV002402618RCV002497718

NM_000548.5(TSC2):c.1714C>T (p.Gln572Ter) SNV
Germline
Chr16:2065633 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394270749 rs_2087242404

1 SubmittersRCV001213734

NM_000548.5(TSC2):c.2389A>G (p.Ile797Val) SNV
Germline
Chr16:2074233 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394277059 rs_1240217406

3 SubmittersRCV001212091RCV004678995

NM_000548.5(TSC2):c.3662C>T (p.Ser1221Leu) SNV
Germline
Chr16:2081646 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA394292082 rs_45517305

3 SubmittersRCV001213568RCV004033893RCV004734054

NM_000548.5(TSC2):c.3911G>T (p.Ser1304Ile) SNV
Germline
Chr16:2083722 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA049568 rs_751564566

2 SubmittersRCV001209153RCV004950336

NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp) SNV
Germline
Chr16:2084229 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394299127 rs_148527903

3 SubmittersRCV001207908RCV002375148RCV003462695

NM_000548.5(TSC2):c.4039C>T (p.Leu1347Phe) SNV
Germline
Chr16:2084261 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394299285 rs_377050648

3 SubmittersRCV004774291RCV001204182RCV004033604

NM_000548.5(TSC2):c.4282G>A (p.Ala1428Thr) SNV
Germline
Chr16:2084504 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050758 rs_764533757

6 SubmittersRCV001213793RCV001773477RCV003163630RCV004010697

NM_000548.5(TSC2):c.4303G>T (p.Glu1435Ter) SNV
Germline
Chr16:2084525 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394301186 rs_1441136255

1 SubmittersRCV001211770

NM_000548.5(TSC2):c.4442A>G (p.Lys1481Arg) SNV
Germline
Chr16:2084664 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394302335 rs_2090538754

3 SubmittersRCV001211539RCV002327488RCV006258441

NM_000548.5(TSC2):c.4534G>C (p.Asp1512His) SNV
Germline
Chr16:2084991 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA051534 rs_774441486

3 SubmittersRCV001212693RCV003294027RCV004570464

NM_000548.5(TSC2):c.5107G>A (p.Val1703Met) SNV
Germline
Chr16:2088086 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394312247 rs_2091092273

3 SubmittersRCV001202381RCV002348655RCV006545932

NM_000548.5(TSC2):c.5365G>A (p.Glu1789Lys) SNV
Germline
Chr16:2088551 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394315853 rs_45517420

2 SubmittersRCV001211501RCV006287355

NM_000368.5(TSC1):c.1439-1G>C SNV
Germline
Chr9:132906140 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375365642 rs_397514804

1 SubmittersRCV001211307

NM_000368.5(TSC1):c.1141+1G>A SNV
Germline
Chr9:132911001 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375367291 rs_397514819

1 SubmittersRCV001205503

NM_000368.5(TSC1):c.106+4A>G SNV
Germline
Chr9:132928763 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200902496 rs_373075566

4 SubmittersRCV001204051RCV002402582RCV003473742RCV004010634

NM_000548.5(TSC2):c.2742+4G>T SNV
Germline
Chr16:2076174 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1139664239 rs_587781683

2 SubmittersRCV001213457RCV004678998

NM_000548.5(TSC2):c.3884-3C>T SNV
Germline
Chr16:2083692 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA1139664279 rs_2090415795

3 SubmittersRCV001210506RCV003294018RCV006545964

NM_000548.5(TSC2):c.3397+6C>G SNV
Germline
Chr16:2079675 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA276746227 rs_955636757

2 SubmittersRCV001223234RCV005021533

NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile) SNV
Germline
Chr9:132896393 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366586 rs_1449696743

2 SubmittersRCV001233093RCV004951389

NM_000368.5(TSC1):c.2884A>G (p.Ile962Val) SNV
Germline
Chr9:132897275 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375368791 rs_1227198324

2 SubmittersRCV003294108RCV001232734

NM_000368.5(TSC1):c.2635A>G (p.Met879Val) SNV
Germline
Chr9:132897601 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA034033 rs_778416424

5 SubmittersRCV001227729RCV001575745RCV002429969RCV003473792

NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys) SNV
Germline
Chr9:132902724 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375359815 rs_397514783

4 SubmittersRCV001229466RCV004679017RCV004004831RCV005050298

NM_000368.5(TSC1):c.2254G>A (p.Val752Ile) SNV
Germline
Chr9:132902742 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA031994 rs_765643529

2 SubmittersRCV001235826RCV003166459

NM_000368.5(TSC1):c.2112T>G (p.Tyr704Ter) SNV
Germline
Chr9:132903747 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375361028 rs_118203646

1 SubmittersRCV001235747

NM_000368.5(TSC1):c.1624A>T (p.Lys542Ter) SNV
Germline
Chr9:132905954 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375364632 rs_1845641716

1 SubmittersRCV001236469

NM_000368.5(TSC1):c.1597C>A (p.Pro533Thr) SNV
Germline
Chr9:132905981 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375364822 rs_1331420425

2 SubmittersRCV004679018RCV001229842

NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) SNV
Germline
Chr9:132911029 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA027091 rs_760638759

4 SubmittersRCV001230625RCV002436895RCV002504308RCV004004835

NM_000368.5(TSC1):c.856C>G (p.Pro286Ala) SNV
Germline
Chr9:132912339 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA200894798 rs_1047485135

3 SubmittersRCV001231380RCV002447156

NM_000368.5(TSC1):c.663G>A (p.Lys221=) SNV
Germline
Chr9:132921819 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467593761 rs_868715706

4 SubmittersRCV001231969RCV001760236RCV003353233

NM_000368.5(TSC1):c.363G>C (p.Lys121Asn) SNV
Germline
Chr9:132925587 Pathogenic/Likely pathogenic Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375374287 rs_118203370

3 SubmittersRCV001231647RCV004679020RCV005411686

NM_000368.5(TSC1):c.218T>A (p.Leu73Ter) SNV
Germline
Chr9:132925732 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375374863 rs_1846822085

1 SubmittersRCV001230095

NM_000548.5(TSC2):c.391C>G (p.Pro131Ala) SNV
Germline
Chr16:2054350 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA049630 rs_777398393

3 SubmittersRCV003462800RCV004033299RCV001236083

NM_000548.5(TSC2):c.670G>T (p.Ala224Ser) SNV
Germline
Chr16:2056665 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394312453 rs_772558666

4 SubmittersRCV001226297RCV002366017RCV004526092RCV006546003

NM_000548.5(TSC2):c.1113G>C (p.Gln371His) SNV
Germline
Chr16:2060807 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA028182 rs_571767462

4 SubmittersRCV001234320RCV002436917RCV002504320

NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) SNV
Germline
Chr16:2077687 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA042829 rs_779832805

6 SubmittersRCV001773522RCV002436898RCV002484259RCV004004836RCV001230672

NM_000548.5(TSC2):c.3125C>T (p.Pro1042Leu) SNV
Germline
Chr16:2079190 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA044288 rs_745731000

5 SubmittersRCV001236118RCV002322130RCV002260690RCV004004866

NM_000548.5(TSC2):c.3291C>G (p.Ser1097Arg) SNV
Germline
Chr16:2079563 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA394286453 rs_1173297358

4 SubmittersRCV001231681RCV002447159RCV005014278

NM_000548.5(TSC2):c.3328G>C (p.Ala1110Pro) SNV
Germline
Chr16:2079600 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394286599 rs_1260370117

5 SubmittersRCV001232487RCV002322119RCV003238851RCV004004844

NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln) SNV
Germline
Chr16:2081718 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA048210 rs_746588726

4 SubmittersRCV001227098RCV003117855RCV002348765RCV004004816

NM_000548.5(TSC2):c.3917G>A (p.Gly1306Asp) SNV
Germline
Chr16:2083728 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394297109 rs_1567518028

3 SubmittersRCV001225628RCV002375219RCV006546001

NM_000548.5(TSC2):c.4399G>T (p.Ala1467Ser) SNV
Germline
Chr16:2084621 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA051039 rs_774980656

2 SubmittersRCV001230019RCV002327547

NM_000548.5(TSC2):c.4660C>T (p.Gln1554Ter) SNV
Germline
Chr16:2085320 Pathogenic Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394305099 rs_2090634528

3 SubmittersRCV003317462RCV001235987RCV006437026

NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) SNV
Germline
Chr9:132901657 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA032712 rs_751128287

4 SubmittersRCV001247178RCV001773564RCV004004908

NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) SNV
Germline
Chr9:132911478 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375368520 rs_1845955010

6 SubmittersRCV001245202RCV003469470RCV004004902RCV004679040

NM_000548.5(TSC2):c.202G>A (p.Ala68Thr) SNV
Germline
Chr16:2050463 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA035859 rs_767626323

5 SubmittersRCV001241744RCV002418832RCV004004889RCV005014296RCV004794515

NM_000548.5(TSC2):c.229G>T (p.Ala77Ser) SNV
Germline
Chr16:2053345 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394305401 rs_777459404

5 SubmittersRCV001243533RCV002256719RCV002484348

NM_000548.5(TSC2):c.2870T>G (p.Leu957Trp) SNV
Germline
Chr16:2077630 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA042506 rs_200030367

3 SubmittersRCV001241434RCV006287375

NM_000548.5(TSC2):c.3131+4C>G SNV
Germline
Chr16:2079200 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA620704908 rs_559015964

3 SubmittersRCV001227930RCV004032621RCV005014268

NM_000548.5(TSC2):c.4990-5G>C SNV
Germline
Chr16:2087858 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA053413 rs_753000765

3 SubmittersRCV001248039RCV004034916

NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) SNV
Germline
Chr16:2085288 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394304851 rs_2090628516

6 SubmittersRCV001249600RCV004035292RCV004590283

NM_000368.5(TSC1):c.278T>A (p.Leu93Gln) SNV
Germline
Chr9:132925672 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375374611 rs_118203363

1 SubmittersRCV001281332

NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter) SNV
Germline
Chr16:2061928 Pathogenic Tuberous sclerosis 2 Criteria Provided
Multiple Submitters
No Conflicts
CA394320449 rs_2086689358

2 SubmittersRCV001250760

NM_000548.5(TSC2):c.2098-2A>T SNV
Germline
Chr16:2072239 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394274743 rs_45501596

1 SubmittersRCV001250757

NM_000548.5(TSC2):c.4006-2A>T SNV
Germline
Chr16:2084226 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394299105 rs_397514941

1 SubmittersRCV001250761

NM_000368.5(TSC1):c.-144+134G>T SNV
Germline
Chr9:132944409 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200910372 rs_375418118

2 SubmittersRCV001254672RCV003433096

NM_000548.5(TSC2):c.3815-1G>A SNV
Germline
Chr16:2082435 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394294738 rs_2090256621

7 SubmittersRCV001258192RCV001587298RCV002357062RCV004803604

NM_000548.5(TSC2):c.775-1G>C SNV
Unknown
Chr16:2057104 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394312931 rs_45454192

1 SubmittersRCV001262864

NM_000548.5(TSC2):c.4039C>G (p.Leu1347Val) SNV
Germline
Chr16:2084261 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA050266 rs_377050648

3 SubmittersRCV001281690

NM_000548.5(TSC2):c.2837+10G>T SNV
Germline
Chr16:2076595 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA718907520 rs_1232454175

4 SubmittersRCV001288896RCV001433588

NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) SNV
Germline
Chr9:132896315 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375366418 rs_1845031012

3 SubmittersRCV001307289RCV002456393RCV003462877

NM_000368.5(TSC1):c.1765C>T (p.Pro589Ser) SNV
Germline
Chr9:132905813 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375363689 rs_1299279813

2 SubmittersRCV001300322RCV004679052

NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser) SNV
Germline
Chr9:132911467 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA026715 rs_570809282

2 SubmittersRCV001296630RCV006548058

NM_000368.5(TSC1):c.720T>G (p.His240Gln) SNV
Germline
Chr9:132921380 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038590 rs_779872953

5 SubmittersRCV001301461RCV002258188RCV004005001

NM_000368.5(TSC1):c.482T>C (p.Leu161Pro) SNV
Germline
Chr9:132923374 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375373213 rs_1846672141

1 SubmittersRCV001294832

NM_000548.5(TSC2):c.183A>G (p.Ile61Met) SNV
Germline
Chr16:2050444 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Autism spectrum disorder
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394303367 rs_2084961841

4 SubmittersRCV001304127RCV003127778RCV003462870RCV005512990

NM_000548.5(TSC2):c.679T>G (p.Cys227Gly) SNV
Germline
Chr16:2056674 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA056139 rs_753197543

2 SubmittersRCV001299291RCV004036132

NM_000548.5(TSC2):c.979A>G (p.Met327Val) SNV
Germline
Chr16:2060673 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA056860 rs_754596133

2 SubmittersRCV001304690RCV004951485

NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg) SNV
Germline
Chr16:2061882 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394319880 rs_201525586

3 SubmittersRCV001298879RCV002260699RCV002322195

NM_000548.5(TSC2):c.1423A>G (p.Ile475Val) SNV
Germline
Chr16:2063033 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394324005 rs_1196710568

4 SubmittersRCV001307205RCV002393727RCV002509654RCV004570720

NM_000548.5(TSC2):c.1569C>G (p.His523Gln) SNV
Germline
Chr16:2064397 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394326617 rs_1420211177

3 SubmittersRCV001302576RCV002402843RCV005256764

NM_000548.5(TSC2):c.1624C>T (p.Pro542Ser) SNV
Germline
Chr16:2065543 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA276731038 rs_891347695

5 SubmittersRCV001296720RCV003365300RCV004004968RCV006258508

NM_000548.5(TSC2):c.2186G>A (p.Ser729Asn) SNV
Germline
Chr16:2072329 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394274986 rs_2088581254

2 SubmittersRCV001304344RCV004727111

NM_000548.5(TSC2):c.2398T>C (p.Cys800Arg) SNV
Germline
Chr16:2074242 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA038885 rs_776930735

2 SubmittersRCV002447314RCV001307717

NM_000548.5(TSC2):c.2941A>G (p.Ser981Gly) SNV
Germline
Chr16:2077701 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394281450 rs_2089595149

4 SubmittersRCV001295665RCV002486118RCV004036011RCV006548052

NM_000548.5(TSC2):c.4361G>T (p.Ser1454Ile) SNV
Germline
Chr16:2084583 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA050988 rs_758233186

3 SubmittersRCV001294962RCV002327632RCV004004957

NM_000548.5(TSC2):c.5011G>A (p.Val1671Met) SNV
Germline
Chr16:2087884 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA053487 rs_775395648

3 SubmittersRCV001298231RCV002350533

NM_000548.5(TSC2):c.5144T>C (p.Met1715Thr) SNV
Germline
Chr16:2088123 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA054058 rs_758246234

4 SubmittersRCV001296392RCV001751562RCV003294205

NM_000548.5(TSC2):c.5357C>T (p.Pro1786Leu) SNV
Germline
Chr16:2088543 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394315777 rs_770117004

4 SubmittersRCV001307897RCV002255643RCV004570726

NM_000368.5(TSC1):c.363+667A>T SNV
Germline
Chr9:132924920 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA1882423264 rs_1846769659

2 SubmittersRCV001311802RCV005866935

NM_000368.5(TSC1):c.3377G>T (p.Gly1126Val) SNV
Germline
Chr9:132896353 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366496 rs_1446630759

2 SubmittersRCV001324337RCV005503084

NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) SNV
Germline
Chr9:132896746 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA035458 rs_144314195

5 SubmittersRCV001324840RCV002438743RCV003473861RCV003151853RCV006548135

NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) SNV
Germline
Chr9:132910641 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200893852 rs_918660416

4 SubmittersRCV001324093RCV003166896RCV004005121

NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn) SNV
Germline
Chr9:132911076 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375367707 rs_1845931432

3 SubmittersRCV001324235RCV003166898RCV005040184

NM_000368.5(TSC1):c.859C>T (p.His287Tyr) SNV
Germline
Chr9:132912336 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375369209 rs_1278022127

2 SubmittersRCV001320665RCV005298780

NM_000368.5(TSC1):c.771C>A (p.Ile257=) SNV
Germline
Chr9:132912424 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA467593604 rs_1060504854

3 SubmittersRCV001317623RCV002402885RCV004005090

NM_000368.5(TSC1):c.622A>C (p.Ser208Arg) SNV
Germline
Chr9:132921860 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038264 rs_778671811

2 SubmittersRCV001318506RCV002366176

NM_000368.5(TSC1):c.542A>T (p.His181Leu) SNV
Germline
Chr9:132921940 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038056 rs_397515294

4 SubmittersRCV001326739RCV003232305RCV003169535RCV006548140

NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser) SNV
Germline
Chr16:2062005 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA028853 rs_767670580

3 SubmittersRCV001318263RCV004005092RCV004034932

NM_000548.5(TSC2):c.1361+6G>A SNV
Germline
Chr16:2062606 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2201988472 rs_1596305980

2 SubmittersRCV001323002RCV002258201

NM_000548.5(TSC2):c.1443+4C>G SNV
Germline
Chr16:2063057 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
TSC2-related disorder
Criteria Provided
Conflicting Classifications
CA620373545 rs_45517172

4 SubmittersRCV001320818RCV003294285RCV004005105RCV004545201

NM_000548.5(TSC2):c.1454T>A (p.Ile485Asn) SNV
Germline
Chr16:2064282 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA030607 rs_774265657

2 SubmittersRCV001322134RCV004951536

NM_000548.5(TSC2):c.1999A>G (p.Thr667Ala) SNV
Germline
Chr16:2071836 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA035463 rs_757722513

2 SubmittersRCV001325771RCV002418977

NM_000548.5(TSC2):c.2248C>T (p.Leu750Phe) SNV
Germline
Chr16:2072876 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA037765 rs_754885213

3 SubmittersRCV001322634RCV003355391RCV004570779

NM_000548.5(TSC2):c.2492C>T (p.Thr831Met) SNV
Germline
Chr16:2074336 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039254 rs_774380711

2 SubmittersRCV001313937RCV002431887

NM_000548.5(TSC2):c.2684T>C (p.Met895Thr) SNV
Germline
Chr16:2076112 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394279351 rs_1284083563

2 SubmittersRCV001315084RCV004951507

NM_000548.5(TSC2):c.2702G>T (p.Arg901Leu) SNV
Germline
Chr16:2076130 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394279443 rs_1273957629

2 SubmittersRCV001315705RCV006287393

NM_000548.5(TSC2):c.3191A>G (p.Asn1064Ser) SNV
Germline
Chr16:2079335 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA044681 rs_758690821

3 SubmittersRCV001316948RCV003166820RCV002499614

NM_000548.5(TSC2):c.3790C>T (p.Pro1264Ser) SNV
Germline
Chr16:2081774 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394293506 rs_2090171531

2 SubmittersRCV001318284RCV004679071

NM_000548.5(TSC2):c.3983G>A (p.Arg1328Lys) SNV
Germline
Chr16:2083794 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276752889 rs_112885324

2 SubmittersRCV001327756RCV002357166

NM_000548.5(TSC2):c.4549C>G (p.Pro1517Ala) SNV
Germline
Chr16:2085006 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394302993 rs_1057522800

4 SubmittersRCV001321059RCV002341657RCV001760405

NM_000548.5(TSC2):c.5245C>T (p.Arg1749Trp) SNV
Germline
Chr16:2088311 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394314699 rs_1193817827

5 SubmittersRCV001312246RCV002341624RCV003332319RCV004005059

NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter) SNV
Germline
Chr9:132907310 Likely pathogenic Tuberous sclerosis 1 No Assertion Criteria Provided
CA375366093 rs_1845724649

1 SubmittersRCV001328534

NM_000548.5(TSC2):c.600-2A>T SNV
Germline
Chr16:2056194 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394310569 rs_45468592

1 SubmittersRCV001329371

NM_000548.5(TSC2):c.1258-2A>G SNV
Germline
Chr16:2062495 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394321727 rs_45517160

3 SubmittersRCV001329367RCV005232272

NM_000368.5(TSC1):c.364A>G (p.Met122Val) SNV
Germline
Chr9:132923492 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375373778 rs_1846685026

4 SubmittersRCV001350514RCV002456524RCV004005232RCV005054364

NM_000548.5(TSC2):c.122C>T (p.Thr41Ile) SNV
Germline
Chr16:2048737 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394301702 rs_1385450866

4 SubmittersRCV001347824RCV002368143RCV004998845RCV006548183

NM_000548.5(TSC2):c.502A>G (p.Met168Val) SNV
Germline
Chr16:2055422 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA053552 rs_779566253

5 SubmittersRCV001352453RCV002258218RCV004005247

NM_000548.5(TSC2):c.1732C>G (p.Leu578Val) SNV
Germline
Chr16:2070471 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272703 rs_1204972424

2 SubmittersRCV001339222RCV004679088

NM_000548.5(TSC2):c.2161G>A (p.Val721Met) SNV
Germline
Chr16:2072304 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA036930 rs_768261185

4 SubmittersRCV001345735RCV003169676RCV004005201RCV005255679

NM_000548.5(TSC2):c.2458A>C (p.Ile820Leu) SNV
Germline
Chr16:2074302 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039097 rs_754451657

2 SubmittersRCV001343167RCV002447407

NM_000548.5(TSC2):c.2927G>A (p.Arg976Gln) SNV
Germline
Chr16:2077687 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA042821 rs_779832805

5 SubmittersRCV001339381RCV002438771RCV004005159RCV005014449

NM_000548.5(TSC2):c.3179G>C (p.Trp1060Ser) SNV
Germline
Chr16:2079323 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394285526 rs_2089827541

1 SubmittersRCV001346894

NM_000548.5(TSC2):c.3497C>T (p.Pro1166Leu) SNV
Germline
Chr16:2080264 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047205 rs_762650392

3 SubmittersRCV001346347RCV002456502RCV004005203

NM_000548.5(TSC2):c.4138C>A (p.Gln1380Lys) SNV
Germline
Chr16:2084360 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394299622 rs_137854045

3 SubmittersRCV001342767RCV001773684

NM_000548.5(TSC2):c.4416C>T (p.Gly1472=) SNV
Germline
Chr16:2084638 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA493043331 rs_2090534289

6 SubmittersRCV001339001RCV001751662RCV004005155RCV004951560RCV005005836

NM_000548.5(TSC2):c.4613C>T (p.Pro1538Leu) SNV
Germline
Chr16:2085273 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA051949 rs_753060862

4 SubmittersRCV001341252RCV002329317RCV004005172RCV005243516

NM_000548.5(TSC2):c.4930G>T (p.Asp1644Tyr) SNV
Germline
Chr16:2086812 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308649 rs_137853999

1 SubmittersRCV001350488

NM_000368.5(TSC1):c.3460A>G (p.Met1154Val) SNV
Germline
Chr9:132896270 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375366330 rs_1845024278

4 SubmittersRCV001359955RCV002486503RCV004951599RCV005428183

NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu) SNV
Germline
Chr9:132900813 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA033399 rs_749414404

3 SubmittersRCV001369075RCV002493882RCV004570907

NM_000368.5(TSC1):c.2040A>C (p.Gly680=) SNV
Germline
Chr9:132904412 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467590782 rs_2131786060

3 SubmittersRCV001372451RCV005437109RCV005286452

NM_000368.5(TSC1):c.2003C>T (p.Pro668Leu) SNV
Germline
Chr9:132904449 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA030574 rs_772603060

3 SubmittersRCV001371538RCV002420835RCV005040228

NM_000368.5(TSC1):c.1768C>T (p.Pro590Ser) SNV
Germline
Chr9:132905810 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA200888421 rs_902419565

3 SubmittersRCV001370337RCV005251280RCV004951633

NM_000368.5(TSC1):c.289A>T (p.Ile97Leu) SNV
Germline
Chr9:132925661 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA034975 rs_138541569

3 SubmittersRCV001369947RCV002438865RCV004006819

NM_000368.5(TSC1):c.58G>A (p.Gly20Ser) SNV
Germline
Chr9:132928815 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375375356 rs_2132295199

2 SubmittersRCV001368315RCV002357251

NM_000548.5(TSC2):c.39G>T (p.Glu13Asp) SNV
Germline
Chr16:2048654 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA049909 rs_766814650

3 SubmittersRCV001369543RCV002357257RCV004570909

NM_000548.5(TSC2):c.107C>T (p.Thr36Met) SNV
Germline
Chr16:2048722 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276768616 rs_376280172

4 SubmittersRCV001371341RCV004006829RCV004037500RCV004728686

NM_000548.5(TSC2):c.113T>A (p.Phe38Tyr) SNV
Germline
Chr16:2048728 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA028582 rs_745604417

2 SubmittersRCV001367176RCV004951623

NM_000548.5(TSC2):c.590G>A (p.Arg197Lys) SNV
Germline
Chr16:2055510 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA055459 rs_754505860

3 SubmittersRCV001372608RCV004681153RCV006548233

NM_000548.5(TSC2):c.817A>G (p.Ile273Val) SNV
Germline
Chr16:2057147 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394313212 rs_1357428836

2 SubmittersRCV001372080RCV004037520

NM_000548.5(TSC2):c.1605G>A (p.Met535Ile) SNV
Germline
Chr16:2065524 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394267557 rs_2151206304

2 SubmittersRCV001367389RCV004681146

NM_000548.5(TSC2):c.2334C>G (p.Asn778Lys) SNV
Germline
Chr16:2072962 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394276671 rs_1320712673

2 SubmittersRCV001370322RCV005762294

NM_000548.5(TSC2):c.2446C>T (p.Pro816Ser) SNV
Germline
Chr16:2074290 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039069 rs_760265207

2 SubmittersRCV001373890RCV006287431

NM_000548.5(TSC2):c.2639+6T>C SNV
Germline
Chr16:2075898 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2499223303 rs_2151382514

3 SubmittersRCV001369542RCV001550897

NM_000548.5(TSC2):c.2734A>G (p.Ile912Val) SNV
Germline
Chr16:2076162 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA041070 rs_748461293

2 SubmittersRCV001366524RCV002438852

NM_000548.5(TSC2):c.3050A>G (p.Asn1017Ser) SNV
Germline
Chr16:2079115 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394284267 rs_2151432652

2 SubmittersRCV001359364RCV002447452

NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro) SNV
Germline
Chr16:2079397 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA044988 rs_767655384

4 SubmittersRCV001368227RCV002322347RCV002499753

NM_000548.5(TSC2):c.3285-3C>T SNV
Germline
Chr16:2079554 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2202030374 rs_781023043

2 SubmittersRCV001374091RCV002447497

NM_000548.5(TSC2):c.3460A>G (p.Thr1154Ala) SNV
Germline
Chr16:2080227 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394288834 rs_1266509754

3 SubmittersRCV001360289RCV002456546RCV004005269

NM_000548.5(TSC2):c.3461C>T (p.Thr1154Ile) SNV
Germline
Chr16:2080228 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA046936 rs_377137483

2 SubmittersRCV001359466RCV002456543

NM_000548.5(TSC2):c.3856C>T (p.Gln1286Ter) SNV
Germline
Chr16:2082477 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394295039 rs_2151493215

3 SubmittersRCV001372348RCV003284286RCV004998857

NM_000548.5(TSC2):c.4873A>T (p.Met1625Leu) SNV
Germline
Chr16:2086755 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA053013 rs_774386413

2 SubmittersRCV001370771RCV004681149

NM_000368.5(TSC1):c.1997+2T>G SNV
Germline
Chr9:132905579 Pathogenic/Likely pathogenic Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA375362199 rs_2131806725

2 SubmittersRCV001377906RCV002420854

NM_000368.5(TSC1):c.509-1G>C SNV
Germline
Chr9:132921974 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375372964 rs_1554819620

1 SubmittersRCV001378275

NM_000548.5(TSC2):c.551T>A (p.Val184Asp) SNV
Germline
Chr16:2055471 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394309504 rs_2085667006

1 SubmittersRCV001379717

NM_000548.5(TSC2):c.2837+1G>A SNV
Germline
Chr16:2076586 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394280276 rs_45517271

3 SubmittersRCV001379012RCV005628909RCV005513040

NM_000548.5(TSC2):c.3398-2A>G SNV
Germline
Chr16:2080163 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394288306 rs_2151455445

2 SubmittersRCV001377743RCV002456594

NM_000548.5(TSC2):c.3611-1G>C SNV
Germline
Chr16:2081594 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394291349 rs_45517302

1 SubmittersRCV001379516

NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter) SNV
Germline
Chr9:132900741 Pathogenic Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA375369931 rs_2131685383

2 SubmittersRCV001385425RCV002432071

NM_000368.5(TSC1):c.1450A>T (p.Arg484Ter) SNV
Germline
Chr9:132906128 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375365587 rs_2131850310

1 SubmittersRCV001390309

NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter) SNV
Germline/somatic
Chr9:132911455 Pathogenic Tuberous sclerosis 1
Malignant tumor of urinary bladder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375368399 rs_2131972870

4 SubmittersRCV001390138RCV003332343RCV005416539

NM_000368.5(TSC1):c.913+1G>T SNV
Germline
Chr9:132912281 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375368964 rs_118203470

1 SubmittersRCV001383671

NM_000548.5(TSC2):c.138+5G>C SNV
Germline
Chr16:2048758 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA2499223267 rs_45481400

1 SubmittersRCV001381931

NM_000548.5(TSC2):c.975+2T>C SNV
Germline
Chr16:2058875 Pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394315918 rs_2151110209

2 SubmittersRCV001387617RCV002384548

NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter) SNV
Germline
Chr16:2060768 Pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394317993 rs_1229561585

3 SubmittersRCV001387519RCV002420865

NM_000548.5(TSC2):c.1948G>T (p.Glu650Ter) SNV
Germline
Chr16:2071785 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394273555 rs_2151303613

1 SubmittersRCV001390163

NM_000548.5(TSC2):c.2285T>A (p.Leu762Ter) SNV
Germline
Chr16:2072913 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394276579 rs_2151327516

1 SubmittersRCV001385625

NM_000548.5(TSC2):c.3316A>T (p.Lys1106Ter) SNV
Germline
Chr16:2079588 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394286576 rs_2151445155

1 SubmittersRCV001385714

NM_000548.5(TSC2):c.3397+1G>T SNV
Germline
Chr16:2079670 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394286847 rs_137854208

1 SubmittersRCV001380505

NM_000548.5(TSC2):c.3582G>A (p.Trp1194Ter) SNV
Germline
Chr16:2080349 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394289644 rs_2151462008

1 SubmittersRCV001385431

NM_000548.5(TSC2):c.3610+1G>T SNV
Germline
Chr16:2080378 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394289763 rs_45517299

3 SubmittersRCV001385218RCV001508403

NM_000548.5(TSC2):c.4827C>A (p.Cys1609Ter) SNV
Germline
Chr16:2086357 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308109 rs_1179490369

1 SubmittersRCV001381572

NM_000548.5(TSC2):c.4950C>G (p.Tyr1650Ter) SNV
Germline
Chr16:2086832 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308833 rs_1283177454

1 SubmittersRCV001390704

NM_000548.5(TSC2):c.481+1G>A SNV
Germline
Chr16:2054441 Pathogenic/Likely pathogenic Cortical tubers
Focal cortical dysplasia
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394308611 rs_45488500

4 SubmittersRCV001391263RCV001871999

NM_000368.5(TSC1):c.2042-5A>T SNV
Germline
Chr9:132903822 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA860671948 rs_118203627

4 SubmittersRCV001419950RCV002255662

NM_000368.5(TSC1):c.1998-7T>G SNV
Germline
Chr9:132904461 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA1882412365 rs_1845549017

2 SubmittersRCV001395734RCV004006868

NM_000368.5(TSC1):c.914-4T>G SNV
Germline
Chr9:132911572 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2499219725 rs_2131982922

2 SubmittersRCV001403846RCV002377615

NM_000368.5(TSC1):c.509-5T>C SNV
Germline
Chr9:132921978 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2499219732 rs_1846593189

2 SubmittersRCV001413695RCV006287440

NM_000548.5(TSC2):c.717C>T (p.Phe239=) SNV
Germline
Chr16:2056712 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492957249 rs_1567408727

4 SubmittersRCV001396938RCV003169968RCV004998872

NM_000548.5(TSC2):c.918C>T (p.Ala306=) SNV
Germline
Chr16:2058816 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492959716 rs_2151107825

3 SubmittersRCV001414249RCV004951704

NM_000548.5(TSC2):c.999G>A (p.Val333=) SNV
Germline
Chr16:2060693 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492960612 rs_746177025

3 SubmittersRCV001402541RCV005298831

NM_000548.5(TSC2):c.1284C>T (p.Ser428=) SNV
Germline
Chr16:2062523 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492962397 rs_1325874616

3 SubmittersRCV001395752RCV002384564

NM_000548.5(TSC2):c.3003G>T (p.Gly1001=) SNV
Germline
Chr16:2079068 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA043807 rs_768864105

2 SubmittersRCV001405382RCV002438935

NM_000548.5(TSC2):c.4014A>G (p.Ser1338=) SNV
Germline
Chr16:2084236 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493043006 rs_1481292684

2 SubmittersRCV001411527RCV006548284

NM_000548.5(TSC2):c.4701C>T (p.Gly1567=) SNV
Germline
Chr16:2086231 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493043518 rs_763804965

5 SubmittersRCV001392039RCV004803682RCV004951666

NM_000548.5(TSC2):c.4824C>T (p.Tyr1608=) SNV
Germline
Chr16:2086354 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493043589 rs_1422829075

4 SubmittersRCV001416351RCV002555099RCV003298694

NM_000368.5(TSC1):c.2103G>A (p.Gln701=) SNV
Germline
Chr9:132903756 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467590725 rs_118203639

6 SubmittersRCV001422371RCV001773749RCV002258241

NM_000368.5(TSC1):c.1002G>C (p.Ser334=) SNV
Germline
Chr9:132911480 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA026675 rs_200820603

2 SubmittersRCV001447517RCV003355482

NM_000368.5(TSC1):c.663+8G>A SNV
Germline
Chr9:132921811 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Criteria Provided
Conflicting Classifications
CA591050536 rs_1288691986

3 SubmittersRCV001448391RCV005408908

NM_000368.5(TSC1):c.603C>A (p.Ser201=) SNV
Germline
Chr9:132921879 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA038214 rs_777571943

3 SubmittersRCV001426665RCV006258588RCV006548311

NM_000548.5(TSC2):c.1014C>T (p.Ile338=) SNV
Germline
Chr16:2060708 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492960690 rs_1250621196

5 SubmittersRCV001436285RCV002258254RCV006548332

NM_000548.5(TSC2):c.1417C>T (p.Leu473=) SNV
Germline
Chr16:2063027 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492962570 rs_1321215329

2 SubmittersRCV001426617RCV005298839

NM_000548.5(TSC2):c.4005+10G>T SNV
Germline
Chr16:2083826 Conflicting classifications of pathogenicity Tuberous sclerosis 2
TSC2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2202042665 rs_2090437677

4 SubmittersRCV001442160RCV004540337RCV006258598

NM_000368.5(TSC1):c.2821C>T (p.Leu941=) SNV
Germline
Chr9:132897338 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467812707 rs_2131628647

2 SubmittersRCV001463257RCV004951794

NM_000368.5(TSC1):c.1998-5C>T SNV
Germline
Chr9:132904459 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1882412363 rs_1845548849

3 SubmittersRCV001450570RCV002421016

NM_000368.5(TSC1):c.1030-5C>T SNV
Germline
Chr9:132911118 Conflicting classifications of pathogenicity Tuberous sclerosis 1
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2499219722 rs_1588323218

4 SubmittersRCV001472955RCV003331163RCV002384765

NM_000368.5(TSC1):c.364-5T>C SNV
Germline
Chr9:132923497 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA200901626 rs_111865190

3 SubmittersRCV001456889RCV004038558

NM_000368.5(TSC1):c.177C>T (p.His59=) SNV
Germline
Chr9:132927234 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200902339 rs_767647768

5 SubmittersRCV001453753RCV002414086RCV004804181RCV006258608

NM_000548.5(TSC2):c.1269C>T (p.Leu423=) SNV
Germline
Chr16:2062508 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492962357 rs_1323588796

3 SubmittersRCV001474310RCV004951816

NM_000548.5(TSC2):c.3815-8C>T SNV
Germline
Chr16:2082428 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2499223330 rs_1596404187

3 SubmittersRCV001463839RCV002258274

NM_000548.5(TSC2):c.3903G>A (p.Glu1301=) SNV
Germline
Chr16:2083714 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492956150 rs_1429956058

4 SubmittersRCV001459055RCV003298792RCV004728730

NM_000548.5(TSC2):c.4006-7T>G SNV
Germline
Chr16:2084221 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2499223333 rs_2151520224

3 SubmittersRCV001465963RCV001773751

NM_000548.5(TSC2):c.4704C>T (p.Ser1568=) SNV
Germline
Chr16:2086234 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276756154 rs_916198158

4 SubmittersRCV001455561RCV004007059RCV004681190

NM_000368.5(TSC1):c.2463G>A (p.Val821=) SNV
Germline
Chr9:132901628 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467590450 rs_764014190

2 SubmittersRCV001498549RCV004946688

NM_000368.5(TSC1):c.1410A>G (p.Glu470=) SNV
Germline
Chr9:132906759 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467591647 rs_2131863384

2 SubmittersRCV001495450RCV003159210

NM_000368.5(TSC1):c.1350C>T (p.Ser450=) SNV
Germline
Chr9:132906819 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA028440 rs_773780814

5 SubmittersRCV001499050RCV002276521RCV004007203RCV004946689

NM_000368.5(TSC1):c.1095C>T (p.Val365=) SNV
Germline
Chr9:132911048 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467593336 rs_2131960043

2 SubmittersRCV001483346RCV004770161

NM_000368.5(TSC1):c.509-4C>G SNV
Germline
Chr9:132921977 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA645557271 rs_2132162807

2 SubmittersRCV001506489RCV002334564

NM_000548.5(TSC2):c.775-7C>G SNV
Germline
Chr16:2057098 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Renal cyst
Criteria Provided
Conflicting Classifications
CA276774933 rs_368164133

2 SubmittersRCV001502385RCV005626433

NM_000548.5(TSC2):c.1755T>C (p.Arg585=) SNV
Germline
Chr16:2070494 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA033378 rs_755484371

4 SubmittersRCV001480088RCV002259132

NM_000548.5(TSC2):c.1851C>T (p.Phe617=) SNV
Germline
Chr16:2071521 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492950258 rs_1446662814

4 SubmittersRCV001495337RCV002414198RCV006258635

NM_000548.5(TSC2):c.2221-8G>A SNV
Germline
Chr16:2072841 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2499223298 rs_768919244

2 SubmittersRCV001495484RCV003313226

NM_000548.5(TSC2):c.3058C>T (p.Leu1020=) SNV
Germline
Chr16:2079123 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA044121 rs_574318440

5 SubmittersRCV001502030RCV002255676RCV004007213RCV006258640

NM_000548.5(TSC2):c.4749G>A (p.Glu1583=) SNV
Germline
Chr16:2086279 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493043545 rs_1257270850

4 SubmittersRCV001492190RCV002329598RCV004007178

NM_000548.5(TSC2):c.5283C>T (p.Ser1761=) SNV
Germline
Chr16:2088469 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA054945 rs_747002312

4 SubmittersRCV001482665RCV004037230RCV004774450

NM_000548.5(TSC2):c.5293C>T (p.Leu1765=) SNV
Germline
Chr16:2088479 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA493043675 rs_1060500954

5 SubmittersRCV001478504RCV002276520RCV002350978RCV004007140

NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter) SNV
Germline
Chr9:132921927 Pathogenic Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Multiple Submitters
No Conflicts
CA375372746 rs_118203398

3 SubmittersRCV001508281RCV002564237

NM_000548.5(TSC2):c.5260-13C>T SNV
Germline
Chr16:2088433 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA718905476 rs_1413775764

4 SubmittersRCV001534422RCV002071921RCV002258301

NM_000368.5(TSC1):c.2503-11T>A SNV
Germline
Chr9:132900848 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA032988 rs_201568350

3 SubmittersRCV001558308RCV002072106RCV004008932

NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg) SNV
Germline
Chr9:132905681 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375362834 rs_1471587230

4 SubmittersRCV001653085RCV001882751RCV005286496RCV004571067

NM_000548.5(TSC2):c.4494-2A>G SNV
Germline
Chr16:2084949 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394302658 rs_397514990

2 SubmittersRCV001665507RCV003626679

NM_000368.5(TSC1):c.2503-1G>C SNV
Germline
Chr9:132900838 Pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375370376 rs_118203705

2 SubmittersRCV001706864

NM_000548.5(TSC2):c.5302G>A (p.Val1768Met) SNV
Germline
Chr16:2088488 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394315354 rs_2151639120

3 SubmittersRCV001758132RCV003626681RCV005286498

NM_000368.5(TSC1):c.2503-11T>G SNV
Germline
Chr9:132900848 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA033006 rs_201568350

3 SubmittersRCV001764936RCV002074006RCV004008995

NM_000548.5(TSC2):c.3454A>G (p.Ser1152Gly) SNV
Germline
Chr16:2080221 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276746678 rs_772215032

4 SubmittersRCV001768600RCV002032826RCV003163832RCV004008997

NM_000548.5(TSC2):c.1871A>C (p.Asp624Ala) SNV
Germline
Chr16:2071541 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394273085 rs_2151296839

3 SubmittersRCV001774042RCV002300578RCV003163848

NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) SNV
Germline
Chr9:132925694 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375374694 rs_1463772907

4 SubmittersRCV001765794RCV001882894RCV002425049RCV004009009

NM_000548.5(TSC2):c.4697A>G (p.His1566Arg) SNV
Germline
Chr16:2086227 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394307249 rs_1448001502

4 SubmittersRCV001756938RCV001868458RCV002329731RCV005006022

NM_000548.5(TSC2):c.4253C>T (p.Ser1418Leu) SNV
Germline
Chr16:2084475 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA050710 rs_369164761

4 SubmittersRCV001761049RCV005095009RCV006287480

NM_000548.5(TSC2):c.3611-11C>G SNV
Germline
Chr16:2081584 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA047730 rs_375617364

3 SubmittersRCV001769117RCV002544128RCV004009022

NM_000548.5(TSC2):c.4570-13C>G SNV
Germline
Chr16:2085217 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051695 rs_370549253

5 SubmittersRCV001771350RCV002074021RCV002256831RCV004009026

NM_000548.5(TSC2):c.4662+11G>A SNV
Germline
Chr16:2085333 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA052039 rs_761569930

2 SubmittersRCV002074047RCV003238694

NM_000548.5(TSC2):c.5090C>A (p.Thr1697Asn) SNV
Germline
Chr16:2088069 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394312100 rs_777223264

4 SubmittersRCV001776648RCV002334690RCV002541066RCV004804233

NM_000548.5(TSC2):c.1443+2T>A SNV
Germline
Chr16:2063055 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394324194 rs_397515064

2 SubmittersRCV001810378RCV003512137

NM_000548.5(TSC2):c.2680G>C (p.Ala894Pro) SNV
Germline
Chr16:2076108 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394279332 rs_1379507306

3 SubmittersRCV001815785RCV003772271RCV002425084

NM_000548.5(TSC2):c.3040A>G (p.Ser1014Gly) SNV
Germline
Chr16:2079105 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394284167 rs_1163007321

3 SubmittersRCV001815786RCV003512138RCV004946744

NM_000548.5(TSC2):c.3884-1G>T SNV
Germline
Chr16:2083694 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394296628 rs_137854079

1 SubmittersRCV001823560

NM_000548.5(TSC2):c.987T>A (p.Cys329Ter) SNV
Unknown
Chr16:2060681 Pathogenic Tuberous sclerosis 2 No Assertion Criteria Provided
CA394317199 rs_2151134671

1 SubmittersRCV001824268

NM_000548.5(TSC2):c.5069-11A>G SNV
Germline
Chr16:2088037 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA053750 rs_562381623

5 SubmittersRCV001843670RCV002077327RCV002255189RCV006554630

NM_000368.5(TSC1):c.435G>T (p.Gln145His) SNV
Germline
Chr9:132923421 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375373442 rs_1195580419

2 SubmittersRCV002028784RCV002331610

NM_000368.5(TSC1):c.1196C>T (p.Pro399Leu) SNV
Germline
Chr9:132910638 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA027231 rs_761014195

2 SubmittersRCV001898467RCV005050445

NM_000548.5(TSC2):c.5048T>G (p.Val1683Gly) SNV
Germline
Chr16:2087921 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394311538 rs_2151613782

1 SubmittersRCV001962638

NM_000368.5(TSC1):c.973C>G (p.Gln325Glu) SNV
Germline
Chr9:132911509 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375368645 rs_118203474

2 SubmittersRCV001975352RCV004946946

NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu) SNV
Germline
Chr9:132897546 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA034305 rs_772324460

2 SubmittersRCV001923273RCV003167152

NM_000548.5(TSC2):c.2564A>C (p.His855Pro) SNV
Germline
Chr16:2075817 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394278325 rs_1424946987

2 SubmittersRCV001959685RCV005505344

NM_000368.5(TSC1):c.2521G>T (p.Val841Phe) SNV
Germline
Chr9:132900819 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375370287 rs_1343088775

2 SubmittersRCV001901293RCV002458748

NM_000548.5(TSC2):c.2209C>G (p.Leu737Val) SNV
Germline
Chr16:2072352 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394275119 rs_1485034650

2 SubmittersRCV002048137RCV005764565

NM_000548.5(TSC2):c.5035G>C (p.Glu1679Gln) SNV
Germline
Chr16:2087908 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394311355 rs_370404391

2 SubmittersRCV001948920RCV002334938

NM_000548.5(TSC2):c.4058T>C (p.Val1353Ala) SNV
Germline
Chr16:2084280 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394299355 rs_2151521778

2 SubmittersRCV001910262RCV006287530

NM_000548.5(TSC2):c.1820C>G (p.Ala607Gly) SNV
Germline
Chr16:2070559 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272985 rs_397515296

3 SubmittersRCV001905856RCV004998990RCV004946827

NM_000548.5(TSC2):c.1119+6G>T SNV
Germline
Chr16:2060819 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA276776748 rs_397515305

2 SubmittersRCV002036730

NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter) SNV
Germline
Chr9:132905612 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375362351 rs_2131809131

1 SubmittersRCV001864151

NM_000548.5(TSC2):c.2058C>A (p.Tyr686Ter) SNV
Germline
Chr16:2071895 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394274627 rs_1186913814

1 SubmittersRCV001978967

NM_000548.5(TSC2):c.4989+2T>A SNV
Germline
Chr16:2086873 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394309263 rs_2090871271

1 SubmittersRCV002021985

NM_000548.5(TSC2):c.5194C>A (p.Pro1732Thr) SNV
Germline
Chr16:2088260 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394314187 rs_759007975

2 SubmittersRCV001888782RCV004946824

NM_000548.5(TSC2):c.4810G>A (p.Gly1604Ser) SNV
Germline
Chr16:2086340 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA052491 rs_771289256

4 SubmittersRCV001871346RCV004010765RCV004041358RCV006275100

NM_000548.5(TSC2):c.794G>T (p.Gly265Val) SNV
Germline
Chr16:2057124 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394313074 rs_1188591008

3 SubmittersRCV002034388RCV002255717

NM_000368.5(TSC1):c.2391+1G>A SNV
Germline
Chr9:132902604 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375358973 rs_1060503224

3 SubmittersRCV005412347RCV005623463RCV001961504

NM_000548.5(TSC2):c.3967G>A (p.Ala1323Thr) SNV
Germline
Chr16:2083778 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA394297507 rs_1248093496

5 SubmittersRCV001877964RCV002256859RCV003151361

NM_000548.5(TSC2):c.1808C>T (p.Thr603Ile) SNV
Germline
Chr16:2070547 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272966 rs_1318655892

2 SubmittersRCV001951847RCV004043586

NM_000548.5(TSC2):c.4982C>T (p.Thr1661Ile) SNV
Germline
Chr16:2086864 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA053177 rs_776541842

3 SubmittersRCV001884205RCV004804283

NM_000368.5(TSC1):c.2023G>C (p.Asp675His) SNV
Germline
Chr9:132904429 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA030660 rs_768189353

4 SubmittersRCV001921031RCV002423041RCV006550683

NM_000548.5(TSC2):c.125C>T (p.Ala42Val) SNV
Germline
Chr16:2048740 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276768623 rs_199562226

2 SubmittersRCV001969899RCV002407144

NM_000368.5(TSC1):c.364-1G>T SNV
Germline
Chr9:132923493 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375373783 rs_118203376

1 SubmittersRCV001899970

NM_000548.5(TSC2):c.1808C>G (p.Thr603Ser) SNV
Germline
Chr16:2070547 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394272965 rs_1318655892

4 SubmittersRCV001932092RCV002406943RCV004804262

NM_000368.5(TSC1):c.363+5G>C SNV
Germline
Chr9:132925582 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA2573144214 rs_118203374

1 SubmittersRCV002016665

NM_000548.5(TSC2):c.4994A>G (p.Gln1665Arg) SNV
Germline
Chr16:2087867 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA053440 rs_747018176

2 SubmittersRCV002018256RCV002337145

NM_000368.5(TSC1):c.2503-20T>G SNV
Germline
Chr9:132900857 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA033114 rs_539758749

2 SubmittersRCV002028631RCV002223335

NM_000548.5(TSC2):c.3611-3C>T SNV
Germline
Chr16:2081592 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA047831 rs_753716627

2 SubmittersRCV001975771RCV003170268

NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu) SNV
Germline
Chr16:2086818 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Criteria Provided
Conflicting Classifications
CA394308719 rs_1064796970

2 SubmittersRCV001975922RCV002246632

NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter) SNV
Germline
Chr9:132897562 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375369531 rs_2131637455

1 SubmittersRCV001987759

NM_000548.5(TSC2):c.3814+14C>T SNV
Germline
Chr16:2081812 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
not specified
Criteria Provided
Conflicting Classifications
CA048496 rs_374139943

3 SubmittersRCV001975692RCV005016983RCV005419293

NM_000548.5(TSC2):c.1180C>A (p.Leu394Met) SNV
Germline
Chr16:2061931 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394320513 rs_1409309186

4 SubmittersRCV001966993RCV003464339RCV005016984RCV005764533

NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) SNV
Germline
Chr16:2088303 Likely pathogenic Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394314610 rs_2151631825

2 SubmittersRCV001969546RCV002497929

NM_000368.5(TSC1):c.214C>T (p.Leu72Phe) SNV
Germline
Chr9:132925736 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA031578 rs_759183842

4 SubmittersRCV001908916RCV004010824RCV004042567RCV006258695

NM_000548.5(TSC2):c.4490C>T (p.Pro1497Leu) SNV
Germline
Chr16:2084712 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394302616 rs_45497997

1 SubmittersRCV001949222

NM_000368.5(TSC1):c.738-1G>C SNV
Germline
Chr9:132912458 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375369753 rs_1564490210

1 SubmittersRCV001972674

NM_000548.5(TSC2):c.2455A>G (p.Ile819Val) SNV
Germline
Chr16:2074299 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394277487 rs_1426302691

3 SubmittersRCV002036977RCV002463109RCV002454322

NM_000548.5(TSC2):c.5080C>G (p.Leu1694Val) SNV
Germline
Chr16:2088059 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394311988 rs_760781650

2 SubmittersRCV001889561RCV004946832

NM_000548.5(TSC2):c.3671A>T (p.Asn1224Ile) SNV
Germline
Chr16:2081655 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394292203 rs_1434962054

2 SubmittersRCV001951900RCV002344041

NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter) SNV
Germline
Chr9:132905690 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375362900 rs_1158059433

1 SubmittersRCV001940344

NM_000548.5(TSC2):c.4265C>A (p.Thr1422Asn) SNV
Germline
Chr16:2084487 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA276753382 rs_760230300

2 SubmittersRCV002017604RCV002331603

NM_000548.5(TSC2):c.3292C>G (p.Pro1098Ala) SNV
Germline
Chr16:2079564 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394286456 rs_772686090

2 SubmittersRCV001943754RCV004728945

NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) SNV
Germline
Chr9:132896675 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367681 rs_1317622700

3 SubmittersRCV001997002RCV002442932RCV004010974

NM_000548.5(TSC2):c.2203T>C (p.Ser735Pro) SNV
Germline
Chr16:2072346 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA037096 rs_753059579

2 SubmittersRCV001962286RCV004040390

NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) SNV
Germline
Chr9:132923443 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375373552 rs_1163879822

3 SubmittersRCV002006203RCV003289351RCV004011070

NM_000548.5(TSC2):c.2T>A (p.Met1Lys) SNV
Germline
Chr16:2048617 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394300404 rs_2084667702

1 SubmittersRCV001891847

NM_000548.5(TSC2):c.2260C>T (p.Pro754Ser) SNV
Germline
Chr16:2072888 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA037977 rs_752603642

2 SubmittersRCV002010862RCV005505378

NM_000548.5(TSC2):c.41A>G (p.Lys14Arg) SNV
Germline
Chr16:2048656 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA394300893 rs_1263108967

5 SubmittersRCV001901149RCV002256862RCV004770264RCV005437405

NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala) SNV
Germline
Chr16:2083751 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA049666 rs_771499212

3 SubmittersRCV002014616RCV002352647RCV003471109

NM_000548.5(TSC2):c.5160+3G>T SNV
Germline
Chr16:2088142 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA2573151973 rs_45517401

1 SubmittersRCV002014902

NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu) SNV
Germline
Chr16:2077645 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA042556 rs_367640434

3 SubmittersRCV002028896RCV002441196RCV002498022

NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp) SNV
Germline
Chr9:132896427 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375366667 rs_118203751

2 SubmittersRCV002029056RCV005050515

NM_000548.5(TSC2):c.5047G>C (p.Val1683Leu) SNV
Germline
Chr16:2087920 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394311528 rs_1596455392

5 SubmittersRCV001919946RCV002334833RCV002291783RCV004010800

NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr) SNV
Germline
Chr9:132905942 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029277 rs_774671298

3 SubmittersRCV001972251RCV002388889RCV006550727

NM_000548.5(TSC2):c.1840-8C>G SNV
Germline
Chr16:2071502 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2202021363 rs_778905320

2 SubmittersRCV001916922RCV005016852

NM_000548.5(TSC2):c.4249C>G (p.Arg1417Gly) SNV
Germline
Chr16:2084471 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394300432 rs_774338461

2 SubmittersRCV001977688RCV002331553

NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn) SNV
Germline
Chr9:132897525 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375369384 rs_1564471932

4 SubmittersRCV001867394RCV005298896RCV006258677RCV006550586

NM_000548.5(TSC2):c.2000C>T (p.Thr667Ile) SNV
Germline
Chr16:2071837 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA035548 rs_781533796

2 SubmittersRCV001901269RCV003303325

NM_000368.5(TSC1):c.1030-2A>G SNV
Germline
Chr9:132911115 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375367946 rs_2131965369

1 SubmittersRCV002037862

NM_000548.5(TSC2):c.4591G>A (p.Val1531Met) SNV
Germline
Chr16:2085251 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051890 rs_762797016

3 SubmittersRCV001912759RCV002334838RCV004804289

NM_000548.5(TSC2):c.2412C>A (p.Cys804Ter) SNV
Germline
Chr16:2074256 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394277172 rs_763123951

1 SubmittersRCV001994647

NM_000548.5(TSC2):c.4645T>C (p.Tyr1549His) SNV
Germline
Chr16:2085305 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394304973 rs_45488595

1 SubmittersRCV002024455

NM_000548.5(TSC2):c.4758C>G (p.Asp1586Glu) SNV
Germline
Chr16:2086288 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394307812 rs_1366814192

3 SubmittersRCV002024531RCV002337164RCV006550869

NM_000368.5(TSC1):c.820G>A (p.Gly274Ser) SNV
Germline
Chr9:132912375 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375369390 rs_1389310342

2 SubmittersRCV001866562RCV003346714

NM_000548.5(TSC2):c.1929C>A (p.Tyr643Ter) SNV
Germline
Chr16:2071599 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394273312 rs_368710573

1 SubmittersRCV002035448

NM_000548.5(TSC2):c.2743-1G>T SNV
Germline
Chr16:2076490 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394279752 rs_45517263

1 SubmittersRCV001908155

NM_000368.5(TSC1):c.275T>G (p.Leu92Ter) SNV
Germline
Chr9:132925675 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375374624 rs_2132234958

1 SubmittersRCV001942258

NM_000368.5(TSC1):c.944C>G (p.Ser315Cys) SNV
Germline
Chr9:132911538 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375368705 rs_1332978347

4 SubmittersRCV001872967RCV004009238RCV006287507

NM_000548.5(TSC2):c.2546-6C>A SNV
Germline
Chr16:2075793 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2573151527 rs_372088609

2 SubmittersRCV001896575RCV004946844

NM_000368.5(TSC1):c.508+2T>C SNV
Germline
Chr9:132923346 Pathogenic/Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375373084 rs_2132185885

2 SubmittersRCV001941863

NM_000548.5(TSC2):c.391C>T (p.Pro131Ser) SNV
Germline
Chr16:2054350 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394306913 rs_777398393

3 SubmittersRCV001924768RCV002359353RCV004010761

NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) SNV
Germline
Chr9:132923485 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA037363 rs_747251435

3 SubmittersRCV001979531RCV002344130RCV003464332

NM_000548.5(TSC2):c.5260-2A>C SNV
Germline
Chr16:2088444 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394314985 rs_1374323400

3 SubmittersRCV002012697RCV003442993RCV005017031

NM_000548.5(TSC2):c.2154C>G (p.Arg718=) SNV
Germline
Chr16:2072297 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493042685 rs_878854081

2 SubmittersRCV001986836RCV005749972

NM_000548.5(TSC2):c.5337G>C (p.Gln1779His) SNV
Germline
Chr16:2088523 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA055156 rs_768237144

2 SubmittersRCV002009401RCV003303632

NM_000548.5(TSC2):c.2011G>A (p.Gly671Ser) SNV
Germline
Chr16:2071848 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394274467 rs_1268191908

3 SubmittersRCV001893773RCV002423000RCV004774519

NM_000548.5(TSC2):c.2544C>A (p.Ser848=) SNV
Germline
Chr16:2074388 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492953271 rs_2151356741

3 SubmittersRCV002016449RCV004729037RCV006287586

NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp) SNV
Germline
Chr9:132905976 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375364781 rs_1419023919

2 SubmittersRCV002037501RCV002397768

NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) SNV
Germline
Chr9:132897262 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA034941 rs_762213436

4 SubmittersRCV002030186RCV002506872RCV003164015RCV003442920

NM_000548.5(TSC2):c.4848A>G (p.Gln1616=) SNV
Germline
Chr16:2086378 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA052718 rs_762819541

2 SubmittersRCV001950035RCV004041891

NM_000548.5(TSC2):c.216A>C (p.Lys72Asn) SNV
Germline
Chr16:2050477 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394303591 rs_1201047547

2 SubmittersRCV002050196RCV003164014

NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter) SNV
Germline
Chr9:132900728 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375369868 rs_1166302175

1 SubmittersRCV001938681

NM_000548.5(TSC2):c.142C>G (p.Leu48Val) SNV
Germline
Chr16:2050403 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394303079 rs_1486839704

3 SubmittersRCV002043372RCV003471266RCV004947044

NM_000548.5(TSC2):c.848G>A (p.Arg283Lys) SNV
Germline
Chr16:2057178 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394313591 rs_1255519055

4 SubmittersRCV002044155RCV002449453RCV004009180

NM_000548.5(TSC2):c.2699G>A (p.Cys900Tyr) SNV
Germline
Chr16:2076127 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394279431 rs_2089323124

1 SubmittersRCV001963015

NM_000548.5(TSC2):c.2866G>T (p.Gly956Cys) SNV
Germline
Chr16:2077626 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA042481 rs_769199118

2 SubmittersRCV001952606RCV005288635

NM_000548.5(TSC2):c.1716+15C>G SNV
Germline
Chr16:2065650 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA620373894 rs_199964793

2 SubmittersRCV001880847RCV002482614

NM_000548.5(TSC2):c.4849+1G>T SNV
Germline
Chr16:2086380 Pathogenic Tuberous sclerosis 2
TSC2-related disorder
Criteria Provided
Single Submitter
CA394308166 rs_45517375

2 SubmittersRCV001952499RCV004538642

NM_000548.5(TSC2):c.3131G>C (p.Arg1044Thr) SNV
Germline
Chr16:2079196 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394285020 rs_397515302

1 SubmittersRCV001949419

NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) SNV
Germline
Chr16:2058782 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA394315140 rs_1596288578

2 SubmittersRCV002045836

NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu) SNV
Germline
Chr9:132896351 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366493 rs_1845037495

2 SubmittersRCV001992257RCV002458957

NM_000548.5(TSC2):c.1947-1G>T SNV
Germline
Chr16:2071783 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA276737578 rs_397515310

1 SubmittersRCV002005918

NM_000368.5(TSC1):c.442A>T (p.Lys148Ter) SNV
Germline
Chr9:132923414 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375373409 rs_2132189676

1 SubmittersRCV001906614

NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile) SNV
Germline
Chr9:132911109 Conflicting classifications of pathogenicity Tuberous sclerosis 1
TSC1-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375367899 rs_1845934094

4 SubmittersRCV001944039RCV003416635RCV004042062RCV006258708

NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys) SNV
Germline
Chr9:132900762 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375370027 rs_1169898186

2 SubmittersRCV002047260RCV002458649

NM_000548.5(TSC2):c.3164G>A (p.Gly1055Asp) SNV
Germline
Chr16:2079308 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394285373 rs_1443030830

2 SubmittersRCV001918275RCV005300997

NM_000548.5(TSC2):c.4343G>A (p.Ser1448Asn) SNV
Germline
Chr16:2084565 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA050888 rs_776137955

3 SubmittersRCV001941116RCV002331482RCV005006256

NM_000368.5(TSC1):c.247G>A (p.Ala83Thr) SNV
Germline
Chr9:132925703 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA032818 rs_76667066

2 SubmittersRCV001923422RCV004043543

NM_000548.5(TSC2):c.387T>A (p.Asp129Glu) SNV
Germline
Chr16:2054346 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394306884 rs_1202650869

2 SubmittersRCV001955733RCV004010965

NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter) SNV
Germline
Chr9:132927264 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375153 rs_2132268804

1 SubmittersRCV001902215

NM_000368.5(TSC1):c.1432G>T (p.Glu478Ter) SNV
Germline
Chr9:132906737 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375365758 rs_1393065957

1 SubmittersRCV001940495

NM_000368.5(TSC1):c.721G>T (p.Glu241Ter) SNV
Germline
Chr9:132921379 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375371258 rs_2132134052

1 SubmittersRCV001958692

NM_000548.5(TSC2):c.2158A>T (p.Lys720Ter) SNV
Germline
Chr16:2072301 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394274863 rs_1195091149

1 SubmittersRCV001958760

NM_000368.5(TSC1):c.851G>T (p.Arg284Leu) SNV
Germline
Chr9:132912344 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375369241 rs_151309813

2 SubmittersRCV001978343RCV004011077

NM_000548.5(TSC2):c.1690G>C (p.Val564Leu) SNV
Germline
Chr16:2065609 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA032314 rs_147072281

5 SubmittersRCV001983401RCV002407251RCV004011078RCV004763291

NM_000368.5(TSC1):c.1029+1G>C SNV
Germline
Chr9:132911452 Pathogenic/Likely pathogenic Tuberous sclerosis 1
Ovarian serous cystadenocarcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA375368379 rs_118203485

3 SubmittersRCV001913520RCV005924109

NM_000548.5(TSC2):c.2967C>T (p.Ser989=) SNV
Germline
Chr16:2079032 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA043543 rs_766417784

2 SubmittersRCV002023926RCV004947051

NM_000548.5(TSC2):c.2967-15G>A SNV
Germline
Chr16:2079017 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA043359 rs_375423568

3 SubmittersRCV001942569RCV002490018RCV006550584

NM_000548.5(TSC2):c.4662+7C>G SNV
Germline
Chr16:2085329 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA2573151929 rs_1555515435

2 SubmittersRCV002021033

NM_000548.5(TSC2):c.1510G>T (p.Val504Phe) SNV
Germline
Chr16:2064338 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA030954 rs_768707639

2 SubmittersRCV005288702RCV002024073

NM_000548.5(TSC2):c.3947G>A (p.Gly1316Glu) SNV
Germline
Chr16:2083758 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394297381 rs_1555513513

2 SubmittersRCV001924562RCV002359350

NM_000548.5(TSC2):c.4936G>T (p.Val1646Leu) SNV
Germline
Chr16:2086818 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308723 rs_1064796970

1 SubmittersRCV001983588

NM_000548.5(TSC2):c.1784A>C (p.Gln595Pro) SNV
Germline
Chr16:2070523 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA033522 rs_781087045

4 SubmittersRCV001981238RCV002398069RCV004011088RCV005017029

NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe) SNV
Germline
Chr9:132897433 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375369018 rs_1172586020

3 SubmittersRCV001984153RCV002441173RCV004999596

NM_000548.5(TSC2):c.1275C>T (p.Asn425=) SNV
Germline
Chr16:2062514 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492962376 rs_878854076

4 SubmittersRCV002134199RCV002372996RCV002466742

NM_000548.5(TSC2):c.2546-15T>G SNV
Germline
Chr16:2075784 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA039704 rs_371256839

2 SubmittersRCV002085193RCV004804359

NM_000548.5(TSC2):c.4570-15C>A SNV
Germline
Chr16:2085215 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA051701 rs_766813076

3 SubmittersRCV002085199RCV005008455

NM_000368.5(TSC1):c.3399G>T (p.Leu1133=) SNV
Germline
Chr9:132896331 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA467812918 rs_2131589934

4 SubmittersRCV002141977RCV002454467RCV004005400

NM_000548.5(TSC2):c.1443+4C>A SNV
Germline
Chr16:2063057 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2573151637 rs_45517172

3 SubmittersRCV002150462RCV003382848

NM_000548.5(TSC2):c.1068G>A (p.Val356=) SNV
Germline
Chr16:2060762 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA028074 rs_760584946

4 SubmittersRCV002186908RCV004045054RCV006258747

NM_000548.5(TSC2):c.482-13G>A SNV
Germline
Chr16:2055389 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA718905702 rs_1221885368

5 SubmittersRCV002103252RCV002258377RCV004804371

NM_000548.5(TSC2):c.600-4G>T SNV
Germline
Chr16:2056192 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276772708 rs_976201466

4 SubmittersRCV002123794RCV002352904RCV004005455

NM_000548.5(TSC2):c.2046G>T (p.Gly682=) SNV
Germline
Chr16:2071883 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA493042610 rs_749536123

3 SubmittersRCV002199817RCV004011230RCV004999629

NM_000548.5(TSC2):c.2837+13G>C SNV
Germline
Chr16:2076598 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2202020747 rs_2089421033

2 SubmittersRCV002155570RCV005017136

NM_000548.5(TSC2):c.2943T>C (p.Ser981=) SNV
Germline
Chr16:2077703 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492954972 rs_1596375342

2 SubmittersRCV002147776RCV004947133

NM_000548.5(TSC2):c.2640-15C>G SNV
Germline
Chr16:2076053 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA2573151558 rs_1011282445

2 SubmittersRCV002098091RCV004005352

NM_000548.5(TSC2):c.337-15G>C SNV
Germline
Chr16:2054281 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA046224 rs_772983704

4 SubmittersRCV002124096RCV004005458

NM_000368.5(TSC1):c.2391+12A>G SNV
Germline
Chr9:132902593 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2573144224 rs_2131727338

2 SubmittersRCV002097367RCV003326610

NM_000548.5(TSC2):c.3883+17G>A SNV
Germline
Chr16:2082521 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA718915382 rs_1207142968

2 SubmittersRCV002093645RCV005017124

NM_000548.5(TSC2):c.3285-5C>G SNV
Germline
Chr16:2079552 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA2573151665 rs_1444989940

2 SubmittersRCV002202622RCV006552918

NM_000548.5(TSC2):c.1840-5G>C SNV
Germline
Chr16:2071505 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2573151544 rs_2151295776

3 SubmittersRCV002202817RCV002407366

NM_000548.5(TSC2):c.3682C>T (p.Leu1228=) SNV
Germline
Chr16:2081666 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276750050 rs_938124834

4 SubmittersRCV002122603RCV004046307RCV004005395

NM_000548.5(TSC2):c.4750C>T (p.Leu1584=) SNV
Germline
Chr16:2086280 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493043546 rs_2151572888

4 SubmittersRCV002191915RCV006258772RCV005515332

NM_000368.5(TSC1):c.2440C>T (p.Leu814=) SNV
Germline
Chr9:132901651 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA200885155 rs_199517042

2 SubmittersRCV002120576RCV003224617

NM_000548.5(TSC2):c.2883A>T (p.Pro961=) SNV
Germline
Chr16:2077643 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492954908 rs_1596374943

3 SubmittersRCV002173081RCV005017109

NM_000548.5(TSC2):c.2356-12T>C SNV
Germline
Chr16:2074188 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA620706056 rs_1388493955

2 SubmittersRCV002217258RCV004005317

NM_000368.5(TSC1):c.2503-12T>C SNV
Germline
Chr9:132900849 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA033051 rs_765263617

5 SubmittersRCV002120377RCV004005392RCV005042730

NM_000548.5(TSC2):c.1257+5G>A SNV
Germline
Chr16:2062013 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA2573151587 rs_2151157428

2 SubmittersRCV002226880

NM_000368.5(TSC1):c.1997+1G>T SNV
Germline
Chr9:132905580 Pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375362205 rs_118203610

2 SubmittersRCV002246788

NM_000548.5(TSC2):c.2220G>A (p.Met740Ile) SNV
Germline
Chr16:2072363 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394275183 rs_2151319848

3 SubmittersRCV002247194RCV002427735RCV003774723

NM_000368.5(TSC1):c.1830G>A (p.Val610=) SNV
Germline
Chr9:132905748 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA467813155 rs_2131820356

4 SubmittersRCV002258531RCV003774772

NM_000368.5(TSC1):c.2479C>T (p.Leu827=) SNV
Germline
Chr9:132901612 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA467590441 rs_2131704085

3 SubmittersRCV002258533RCV005621162

NM_000368.5(TSC1):c.50C>G (p.Pro17Arg) SNV
Germline
Chr9:132928823 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375375370 rs_1189239082

3 SubmittersRCV002255908RCV003094218

NM_000548.5(TSC2):c.1081C>T (p.Leu361=) SNV
Germline
Chr16:2060775 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492961057 rs_796053483

2 SubmittersRCV002258554RCV003094226

NM_000548.5(TSC2):c.1542C>T (p.Asp514=) SNV
Germline
Chr16:2064370 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492963001 rs_2151190617

2 SubmittersRCV002258555RCV005095894

NM_000548.5(TSC2):c.2221-10T>C SNV
Germline
Chr16:2072839 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2573151609 rs_2151325875

3 SubmittersRCV002257226RCV005095895

NM_000548.5(TSC2):c.2592G>A (p.Gln864=) SNV
Germline
Chr16:2075845 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492953483 rs_763099064

4 SubmittersRCV002257230RCV003094228

NM_000548.5(TSC2):c.3300G>A (p.Val1100=) SNV
Germline
Chr16:2079572 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA045658 rs_765436350

3 SubmittersRCV002258558RCV003120858

NM_000548.5(TSC2):c.4989+7G>C SNV
Germline
Chr16:2086878 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2573151960 rs_1460236999

3 SubmittersRCV002258562RCV003626699

NM_000548.5(TSC2):c.649-13C>T SNV
Germline
Chr16:2056631 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA620373167 rs_1290261668

3 SubmittersRCV002255925RCV003626700

NM_000548.5(TSC2):c.2532G>A (p.Leu844=) SNV
Germline
Chr16:2074376 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA492953265 rs_2151356150

3 SubmittersRCV002262498RCV005095927RCV005397351

NM_000368.5(TSC1):c.1812T>G (p.Tyr604Ter) SNV
Germline
Chr9:132905766 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375363358 rs_2131821679

1 SubmittersRCV002267150

NM_000368.5(TSC1):c.585C>G (p.Tyr195Ter) SNV
Germline
Chr9:132921897 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375372602 rs_118203407

1 SubmittersRCV002267151

NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter) SNV
Germline
Chr16:2062566 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394322417 rs_2151164702

2 SubmittersRCV002267202RCV006437142

NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter) SNV
Germline
Chr16:2084255 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394299260 rs_2151521044

1 SubmittersRCV002267203

NM_000548.5(TSC2):c.2220+2T>C SNV
Germline
Chr16:2072365 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394275196 rs_397515121

1 SubmittersRCV002267204

NM_000548.5(TSC2):c.5024C>G (p.Pro1675Arg) SNV
Germline
Chr16:2087897 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394311261 rs_45483392

3 SubmittersRCV002267440RCV003512143

NM_000368.5(TSC1):c.1551G>T (p.Arg517=) SNV
Germline
Chr9:132906027 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467591044 rs_2131842617

3 SubmittersRCV002269406RCV005095963RCV005505429

NM_000548.5(TSC2):c.2460C>T (p.Ile820=) SNV
Germline
Chr16:2074304 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492953112 rs_2151352359

3 SubmittersRCV002273647RCV003096167RCV004948668

NM_000548.5(TSC2):c.843G>T (p.Glu281Asp) SNV
Germline
Chr16:2057173 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394313540 rs_2151088094

1 SubmittersRCV002274816

NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu) SNV
Germline
Chr16:2072889 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394276412 rs_2088690950

2 SubmittersRCV002274817RCV004770435

NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro) SNV
Germline
Chr16:2072967 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA394276682 rs_2151328709

2 SubmittersRCV002274818

NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp) SNV
Germline
Chr16:2088231 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394313855 rs_1373235682

1 SubmittersRCV002274819

NM_000548.5(TSC2):c.1599+4A>C SNV
Germline
Chr16:2064431 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA2580090505 rs_2151192256

1 SubmittersRCV002274867

NM_000548.5(TSC2):c.600-124G>A SNV
Germline
Chr16:2056072 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA656219088 rs_2151069014

1 SubmittersRCV002274869

NM_000368.5(TSC1):c.363+668G>T SNV
Germline
Chr9:132924919 Pathogenic/Likely pathogenic Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA2580080071 rs_2132219029

3 SubmittersRCV002274870RCV005301140

NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter) SNV
Germline
Chr9:132905780 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375363442 rs_2131822866

1 SubmittersRCV002283809

NM_000548.5(TSC2):c.775-2A>G SNV
Germline
Chr16:2057103 Likely pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394312923 rs_2548472327

3 SubmittersRCV002283848RCV002409634

NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg) SNV
Germline
Chr16:2088071 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394312112 rs_1397179937

5 SubmittersRCV002286560RCV003308099RCV003322914

NM_000548.5(TSC2):c.4441A>T (p.Lys1481Ter) SNV
Germline
Chr16:2084663 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394302321 rs_1596418520

1 SubmittersRCV002287848

NM_000548.5(TSC2):c.2117T>C (p.Leu706Pro) SNV
Germline
Chr16:2072260 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394274786 rs_2151316174

3 SubmittersRCV002290060RCV004721038

NM_000368.5(TSC1):c.2810C>T (p.Ala937Val) SNV
Germline
Chr9:132897426 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375368989 rs_2131630360

2 SubmittersRCV002290321RCV005288750

NM_000368.5(TSC1):c.562T>G (p.Phe188Val) SNV
Germline
Chr9:132921920 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375372717 rs_2539014270

1 SubmittersRCV002290358

NM_000548.5(TSC2):c.2050G>C (p.Val684Leu) SNV
Germline
Chr16:2071887 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394274596 rs_779275341

3 SubmittersRCV002304796RCV002416565RCV003395449

NM_000548.5(TSC2):c.2542T>C (p.Ser848Pro) SNV
Germline
Chr16:2074386 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394278037 rs_2543829026

2 SubmittersRCV002301505RCV002454625

NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly) SNV
Germline
Chr9:132896642 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375367515 rs_1588287783

3 SubmittersRCV002295137RCV003375621RCV004005609

NM_000548.5(TSC2):c.3085A>C (p.Met1029Leu) SNV
Germline
Chr16:2079150 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA044140 rs_780572757

2 SubmittersRCV002325736RCV005096141

NM_000548.5(TSC2):c.3217G>T (p.Val1073Leu) SNV
Germline
Chr16:2079361 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394285899 rs_749192298

4 SubmittersRCV002324652RCV004005618RCV006470505

NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met) SNV
Germline
Chr9:132896508 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375366960 rs_1235657856

2 SubmittersRCV002445492RCV003614101

NM_000548.5(TSC2):c.337-5T>C SNV
Germline
Chr16:2054291 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2580090646 rs_2548412653

3 SubmittersRCV002451776RCV004005625RCV005621168

NM_000368.5(TSC1):c.3157C>G (p.His1053Asp) SNV
Germline
Chr9:132896573 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375367213 rs_1845068091

2 SubmittersRCV002320876RCV003099242

NM_000548.5(TSC2):c.3976A>G (p.Met1326Val) SNV
Germline
Chr16:2083787 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394297572 rs_2151513326

3 SubmittersRCV002357722RCV003512149RCV005865566

NM_000548.5(TSC2):c.4346C>A (p.Ser1449Tyr) SNV
Germline
Chr16:2084568 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394301536 rs_759004251

2 SubmittersRCV002332224RCV003626721

NM_000548.5(TSC2):c.4358C>T (p.Pro1453Leu) SNV
Germline
Chr16:2084580 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA050977 rs_748182471

3 SubmittersRCV002332311RCV003102573

NM_000548.5(TSC2):c.3262C>G (p.Leu1088Val) SNV
Germline
Chr16:2079406 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA045043 rs_375934693

2 SubmittersRCV002445659RCV006616673

NM_000368.5(TSC1):c.1141+3A>G SNV
Germline
Chr9:132910999 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA2580079993 rs_2131956082

2 SubmittersRCV002456982RCV003505213

NM_000548.5(TSC2):c.3608C>T (p.Thr1203Ile) SNV
Germline
Chr16:2080375 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394289751 rs_397515030

4 SubmittersRCV002455288RCV003099616RCV003886574

NM_000548.5(TSC2):c.4440A>C (p.Leu1480Phe) SNV
Germline
Chr16:2084662 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394302311 rs_756991335

2 SubmittersRCV002328274RCV006553203

NM_000548.5(TSC2):c.4663-2A>G SNV
Germline
Chr16:2086191 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394306824 rs_2151569037

2 SubmittersRCV002335117RCV003512154

NM_000548.5(TSC2):c.4714A>G (p.Thr1572Ala) SNV
Germline
Chr16:2086244 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394307417 rs_1567532805

2 SubmittersRCV002335355RCV006470748

NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu) SNV
Germline
Chr16:2088261 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394314204 rs_1446388626

3 SubmittersRCV002338531RCV003464468RCV003512158

NM_000548.5(TSC2):c.4629C>G (p.His1543Gln) SNV
Germline
Chr16:2085289 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051970 rs_751873212

3 SubmittersRCV002342542RCV003626723RCV004005669

NM_000548.5(TSC2):c.5120A>C (p.Asn1707Thr) SNV
Germline
Chr16:2088099 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394312371 rs_772439098

2 SubmittersRCV002344190RCV003096623

NM_000548.5(TSC2):c.4570-5C>T SNV
Germline
Chr16:2085225 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA2580091031 rs_2151549469

4 SubmittersRCV002342140RCV003094766RCV006553209

NM_000548.5(TSC2):c.4589C>A (p.Ser1530Ter) SNV
Germline
Chr16:2085249 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394304466 rs_1567528487

2 SubmittersRCV002342252RCV006470729

NM_000368.5(TSC1):c.52A>G (p.Met18Val) SNV
Germline
Chr9:132928821 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375375368 rs_762059806

2 SubmittersRCV002344573RCV003102720

NM_000548.5(TSC2):c.5347G>C (p.Glu1783Gln) SNV
Germline
Chr16:2088533 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394315713 rs_777166275

2 SubmittersRCV002346918RCV003776092

NM_000548.5(TSC2):c.497A>G (p.Gln166Arg) SNV
Germline
Chr16:2055417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276771986 rs_954041989

2 SubmittersRCV002342884RCV003096547

NM_000548.5(TSC2):c.498G>A (p.Gln166=) SNV
Germline
Chr16:2055418 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492955732 rs_2085655247

2 SubmittersRCV002342939RCV003096553

NM_000368.5(TSC1):c.523G>A (p.Val175Ile) SNV
Germline
Chr9:132921959 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375372898 rs_1564498330

3 SubmittersRCV002344334RCV006553219RCV006470817

NM_000548.5(TSC2):c.5260-3C>T SNV
Germline
Chr16:2088443 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2575877622 rs_2151637431

2 SubmittersRCV002341023RCV003512159

NM_000548.5(TSC2):c.1266C>T (p.Ser422=) SNV
Germline
Chr16:2062505 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492962348 rs_1476279884

2 SubmittersRCV002373341RCV003626750

NM_000368.5(TSC1):c.818A>T (p.Asp273Val) SNV
Germline
Chr9:132912377 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA039075 rs_768057796

2 SubmittersRCV002427837RCV003103481

NM_000368.5(TSC1):c.899C>A (p.Thr300Lys) SNV
Germline
Chr9:132912296 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375369032 rs_370916731

2 SubmittersRCV002449942RCV003100076

NM_000548.5(TSC2):c.931T>C (p.Ser311Pro) SNV
Germline
Chr16:2058829 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA056687 rs_775590764

4 SubmittersRCV002371610RCV003395466RCV004804457RCV005621189

NM_000548.5(TSC2):c.938G>A (p.Arg313Lys) SNV
Germline
Chr16:2058836 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394315514 rs_2151108833

2 SubmittersRCV002373864RCV003512164

NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser) SNV
Germline
Chr9:132911458 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA375368408 rs_1304291054

3 SubmittersRCV002383276RCV003614143RCV006553272

NM_000548.5(TSC2):c.1362G>A (p.Arg454=) SNV
Germline
Chr16:2062972 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492962529 rs_374252944

3 SubmittersRCV002383523RCV003626758RCV004007307

NM_000548.5(TSC2):c.1670T>C (p.Leu557Ser) SNV
Germline
Chr16:2065589 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA032166 rs_751618728

2 SubmittersRCV002405849RCV003512173

NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile) SNV
Germline
Chr9:132905938 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA029286 rs_769040084

3 SubmittersRCV002403545RCV003097044RCV006553290

NM_000548.5(TSC2):c.1724T>G (p.Leu575Arg) SNV
Germline
Chr16:2070463 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394272665 rs_1567456901

2 SubmittersRCV002414821RCV003097176

NM_000548.5(TSC2):c.1736C>T (p.Pro579Leu) SNV
Germline
Chr16:2070475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394272726 rs_1471786715

3 SubmittersRCV002399248RCV003097196RCV004804465

NM_000368.5(TSC1):c.1879C>G (p.Leu627Val) SNV
Germline
Chr9:132905699 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375362975 rs_1171110012

2 SubmittersRCV002415255RCV003100910

NM_000548.5(TSC2):c.1766T>C (p.Met589Thr) SNV
Germline
Chr16:2070505 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394272876 rs_796053487

2 SubmittersRCV002401747RCV003512176

NM_000548.5(TSC2):c.206A>G (p.Lys69Arg) SNV
Germline
Chr16:2050467 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA036166 rs_756020849

2 SubmittersRCV002422090RCV003626782

NM_000548.5(TSC2):c.2171T>C (p.Phe724Ser) SNV
Germline
Chr16:2072314 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA036965 rs_761458933

2 SubmittersRCV002432749RCV005058744

NM_000368.5(TSC1):c.2502+1G>A SNV
Germline
Chr9:132901588 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375358238 rs_2131702478

2 SubmittersRCV002455621RCV003614178

NM_000548.5(TSC2):c.2691C>T (p.Phe897=) SNV
Germline
Chr16:2076119 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492953660 rs_2151387700

2 SubmittersRCV002453196RCV005098255

NM_000368.5(TSC1):c.2707G>C (p.Asp903His) SNV
Germline
Chr9:132897529 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375369400 rs_1229582901

2 SubmittersRCV002437422RCV003102126

NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter) SNV
Germline
Chr9:132897335 Pathogenic Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA375368930 rs_2131628564

4 SubmittersRCV002435019RCV003984262RCV004007453

NM_000368.5(TSC1):c.2209-2A>G SNV
Germline
Chr9:132902789 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375360172 rs_2131742187

2 SubmittersRCV002425823RCV005098007

NM_000548.5(TSC2):c.220G>T (p.Glu74Ter) SNV
Germline
Chr16:2050481 Pathogenic Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394303622 rs_2150997192

2 SubmittersRCV002425846RCV006471171

NM_000548.5(TSC2):c.264G>C (p.Leu88=) SNV
Germline
Chr16:2053380 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492955201 rs_1466279830

3 SubmittersRCV002453057RCV003102073RCV006258856

NM_000368.5(TSC1):c.2666A>T (p.Glu889Val) SNV
Germline
Chr9:132897570 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA034183 rs_765314309

2 SubmittersRCV002437278RCV005098241

NM_000368.5(TSC1):c.2725A>G (p.Ile909Val) SNV
Germline
Chr9:132897511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375369337 rs_2538491923

2 SubmittersRCV002431323RCV006559411

NM_000548.5(TSC2):c.2737A>C (p.Thr913Pro) SNV
Germline
Chr16:2076165 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394279610 rs_772378578

2 SubmittersRCV002437540RCV003512186

NM_000548.5(TSC2):c.1120-4G>A SNV
Germline
Chr16:2061867 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2580090710 rs_2151153688

2 SubmittersRCV002439805RCV003626799

NM_000548.5(TSC2):c.2921C>T (p.Ala974Val) SNV
Germline
Chr16:2077681 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394281329 rs_1289330733

2 SubmittersRCV002439968RCV003626800

NM_000548.5(TSC2):c.3031G>T (p.Ala1011Ser) SNV
Germline
Chr16:2079096 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394284033 rs_1430119276

2 SubmittersRCV002438118RCV003102992

NM_000368.5(TSC1):c.3034T>A (p.Ser1012Thr) SNV
Germline
Chr9:132896696 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA035700 rs_764979889

2 SubmittersRCV002438142RCV006471391

NM_000368.5(TSC1):c.2973A>G (p.Glu991=) SNV
Germline
Chr9:132897186 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA467594385 rs_2538473355

3 SubmittersRCV002442119RCV003505287RCV006553337

NM_000548.5(TSC2):c.2742+5G>C SNV
Germline
Chr16:2076175 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA2580090872 rs_397515076

1 SubmittersRCV002463881

NM_000548.5(TSC2):c.3397+4A>G SNV
Germline
Chr16:2079673 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA2573102942 rs_2544072093

1 SubmittersRCV002471852

NM_000548.5(TSC2):c.294G>A (p.Arg98=) SNV
Germline
Chr16:2053410 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA492955237 rs_2085370771

5 SubmittersRCV002481164RCV002571548RCV003308135RCV004587356

NM_000548.5(TSC2):c.1946+3A>G SNV
Germline
Chr16:2071619 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2580090633 rs_1596342841

2 SubmittersRCV003053106RCV004676122

NM_000548.5(TSC2):c.770G>A (p.Trp257Ter) SNV
Germline
Chr16:2056765 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394312820 rs_2151081778

2 SubmittersRCV003064304RCV005433970

NM_000548.5(TSC2):c.1523C>T (p.Ala508Val) SNV
Germline
Chr16:2064351 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394326245 rs_1336558090

2 SubmittersRCV003067129RCV003171060

NM_000548.5(TSC2):c.1306C>T (p.Pro436Ser) SNV
Germline
Chr16:2062545 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394322204 rs_1489429320

2 SubmittersRCV003065486RCV005505574

NM_000548.5(TSC2):c.2546-15T>A SNV
Germline
Chr16:2075784 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA2580090846 rs_371256839

2 SubmittersRCV003066426RCV004009299

NM_000548.5(TSC2):c.1065G>A (p.Val355=) SNV
Germline
Chr16:2060759 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492960999 rs_2151137423

2 SubmittersRCV003085543RCV005515485

NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val) SNV
Germline
Chr16:2083806 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394297766 rs_1166352281

4 SubmittersRCV003078251RCV003465954RCV004676138RCV006546313

NM_000548.5(TSC2):c.4966G>T (p.Asp1656Tyr) SNV
Germline
Chr16:2086848 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394309030 rs_773255614

1 SubmittersRCV003079200

NM_000548.5(TSC2):c.3958G>T (p.Val1320Phe) SNV
Germline
Chr16:2083769 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394297440 rs_767495365

2 SubmittersRCV003082514RCV005515501

NM_000368.5(TSC1):c.2484C>T (p.Leu828=) SNV
Germline
Chr9:132901607 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467590435 rs_2131703646

2 SubmittersRCV003095419RCV005505590

NM_000548.5(TSC2):c.1799A>G (p.His600Arg) SNV
Germline
Chr16:2070538 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272944 rs_1413259742

2 SubmittersRCV002581864RCV004073366

NM_000368.5(TSC1):c.1634C>T (p.Pro545Leu) SNV
Germline
Chr9:132905944 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375364558 rs_1464618848

2 SubmittersRCV003073595RCV006292307

NM_000548.5(TSC2):c.2743-3C>T SNV
Germline
Chr16:2076488 Conflicting classifications of pathogenicity Tuberous sclerosis 2
TSC2-related disorder
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2580090877 rs_45517264

3 SubmittersRCV003090094RCV004540547RCV004073141

NM_000548.5(TSC2):c.3828C>T (p.Ser1276=) SNV
Germline
Chr16:2082449 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA048815 rs_773135685

3 SubmittersRCV002621047RCV004070626

NM_000548.5(TSC2):c.3125C>A (p.Pro1042Gln) SNV
Germline
Chr16:2079190 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394284966 rs_745731000

2 SubmittersRCV002624836RCV004009514

NM_000548.5(TSC2):c.5069-11A>C SNV
Germline
Chr16:2088037 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA2580091146 rs_562381623

3 SubmittersRCV002612258RCV004009488

NM_000548.5(TSC2):c.3664G>A (p.Asp1222Asn) SNV
Germline
Chr16:2081648 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA048016 rs_776157698

2 SubmittersRCV002647196RCV003368028

NM_000548.5(TSC2):c.3285-13A>T SNV
Germline
Chr16:2079544 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA2580090957 rs_2544063648

2 SubmittersRCV002628496

NM_000548.5(TSC2):c.5207A>G (p.Tyr1736Cys) SNV
Germline
Chr16:2088273 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394314314 rs_746160626

3 SubmittersRCV003106975RCV003384352RCV006546437

NM_000548.5(TSC2):c.2649G>A (p.Gln883=) SNV
Germline
Chr16:2076077 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA492953640 rs_2151386276

3 SubmittersRCV002572351RCV004007485RCV003395487

NM_000548.5(TSC2):c.2266G>A (p.Gly756Ser) SNV
Germline
Chr16:2072894 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394276541 rs_1285714005

2 SubmittersRCV002601264RCV005505457

NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly) SNV
Germline
Chr9:132896701 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375367811 rs_1267230279

3 SubmittersRCV002594415RCV004804492RCV004686731

NM_000548.5(TSC2):c.1654G>T (p.Ala552Ser) SNV
Germline
Chr16:2065573 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA032036 rs_777121421

2 SubmittersRCV002642551RCV004681516

NM_000368.5(TSC1):c.1030-14T>C SNV
Germline
Chr9:132911127 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA591361342 rs_180810228

4 SubmittersRCV002668022RCV004007541

NM_000548.5(TSC2):c.1419G>T (p.Leu473=) SNV
Germline
Chr16:2063029 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA492962573 rs_1365563478

3 SubmittersRCV002649909RCV003235735RCV004007524

NM_000548.5(TSC2):c.2967-1G>A SNV
Germline
Chr16:2079031 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394283423 rs_1596382055

3 SubmittersRCV002642700RCV005515383RCV005623485

NM_000368.5(TSC1):c.839A>G (p.Gln280Arg) SNV
Germline
Chr9:132912356 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis 1
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA375369295 rs_1394961527

2 SubmittersRCV002681412RCV005050621

NM_000548.5(TSC2):c.3982A>G (p.Arg1328Gly) SNV
Germline
Chr16:2083793 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA049833 rs_778389399

3 SubmittersRCV002690318RCV004007548RCV004948744

NM_000548.5(TSC2):c.1939G>T (p.Asp647Tyr) SNV
Germline
Chr16:2071609 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA034632 rs_45509392

2 SubmittersRCV002710571RCV005515400

NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr) SNV
Germline
Chr9:132906068 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375365321 rs_1411711162

3 SubmittersRCV002711067RCV003475417RCV006275128

NM_000548.5(TSC2):c.1618T>C (p.Ser540Pro) SNV
Germline
Chr16:2065537 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA031778 rs_765448103

2 SubmittersRCV002780216RCV005764679

NM_000548.5(TSC2):c.818T>C (p.Ile273Thr) SNV
Germline
Chr16:2057148 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394313223 rs_1366677287

2 SubmittersRCV002796913RCV004007618

NM_000548.5(TSC2):c.994G>T (p.Glu332Ter) SNV
Germline
Chr16:2060688 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394317292 rs_911600402

1 SubmittersRCV002792149

NM_000368.5(TSC1):c.151G>C (p.Glu51Gln) SNV
Germline
Chr9:132927260 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375375147 rs_1564503320

2 SubmittersRCV002816247RCV005301190

NM_000548.5(TSC2):c.4663-2A>C SNV
Germline
Chr16:2086191 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394306823 rs_2151569037

1 SubmittersRCV002806468

NM_000368.5(TSC1):c.2122A>T (p.Lys708Ter) SNV
Germline
Chr9:132903737 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375361003 rs_1845500801

1 SubmittersRCV002870893

NM_000548.5(TSC2):c.4850-11C>T SNV
Germline
Chr16:2086721 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA276756743 rs_548115101

2 SubmittersRCV002837717RCV006546114

NM_000548.5(TSC2):c.1189C>T (p.Gln397Ter) SNV
Germline
Chr16:2061940 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394320626 rs_2151155696

1 SubmittersRCV002851338

NM_000548.5(TSC2):c.4493+1G>C SNV
Germline
Chr16:2084716 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394302637 rs_1057518230

1 SubmittersRCV002856293

NM_000368.5(TSC1):c.3471T>C (p.Asn1157=) SNV
Germline
Chr9:132896259 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA467812850 rs_2538420158

4 SubmittersRCV002889193RCV004999819RCV005301194

NM_000548.5(TSC2):c.4951A>C (p.Asn1651His) SNV
Germline
Chr16:2086833 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308836 rs_2090865014

1 SubmittersRCV002885028

NM_000548.5(TSC2):c.1659C>G (p.Tyr553Ter) SNV
Germline
Chr16:2065578 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394268057 rs_1358358656

1 SubmittersRCV002866578

NM_000548.5(TSC2):c.2098G>T (p.Glu700Ter) SNV
Germline
Chr16:2072241 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394274747 rs_45496402

1 SubmittersRCV002876503

NM_000368.5(TSC1):c.2814-1G>A SNV
Germline
Chr9:132897346 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375368956 rs_2538483320

1 SubmittersRCV002866025

NM_000368.5(TSC1):c.1270A>T (p.Arg424Ter) SNV
Germline
Chr9:132907364 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375366215 rs_1845728736

1 SubmittersRCV002852090

NM_000368.5(TSC1):c.269T>C (p.Leu90Pro) SNV
Germline
Chr9:132925681 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375374643 rs_2132235475

2 SubmittersRCV002894820RCV005764695

NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg) SNV
Germline
Chr9:132902762 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375360004 rs_2131740538

3 SubmittersRCV002900084RCV005752102RCV004725408

NM_000548.5(TSC2):c.4596G>A (p.Gln1532=) SNV
Germline
Chr16:2085256 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492958020 rs_2151551059

2 SubmittersRCV002917964RCV003308328

NM_000368.5(TSC1):c.809C>G (p.Ser270Ter) SNV
Germline
Chr9:132912386 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375369441 rs_878853968

1 SubmittersRCV002867803

NM_000548.5(TSC2):c.549G>A (p.Leu183=) SNV
Germline
Chr16:2055469 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492955808 rs_1415519717

2 SubmittersRCV002900319RCV005505520

NM_000548.5(TSC2):c.3083A>T (p.Asp1028Val) SNV
Germline
Chr16:2079148 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394284626 rs_397515255

1 SubmittersRCV002872580

NM_000368.5(TSC1):c.1524C>G (p.Tyr508Ter) SNV
Germline
Chr9:132906054 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375365253 rs_2131844956

1 SubmittersRCV002947912

NM_000548.5(TSC2):c.3598C>G (p.Arg1200Gly) SNV
Germline
Chr16:2080365 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394289708 rs_45438205

1 SubmittersRCV002937284

NM_000548.5(TSC2):c.3373C>A (p.Arg1125=) SNV
Germline
Chr16:2079645 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA492955310 rs_747420910

2 SubmittersRCV002923313

NM_000548.5(TSC2):c.1767G>A (p.Met589Ile) SNV
Germline
Chr16:2070506 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272880 rs_1227923469

2 SubmittersRCV002923532RCV003170662

NM_000548.5(TSC2):c.226-3C>T SNV
Germline
Chr16:2053339 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA2580090609 rs_2151025824

2 SubmittersRCV002966349RCV004007724

NM_000548.5(TSC2):c.3443A>G (p.Gln1148Arg) SNV
Germline
Chr16:2080210 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394288705 rs_1217539900

2 SubmittersRCV002949547RCV005752122

NM_000548.5(TSC2):c.196G>A (p.Glu66Lys) SNV
Germline
Chr16:2050457 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394303482 rs_45517094

2 SubmittersRCV004681570RCV002942884

NM_000548.5(TSC2):c.4824C>G (p.Tyr1608Ter) SNV
Germline
Chr16:2086354 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308102 rs_1422829075

1 SubmittersRCV002971849

NM_000548.5(TSC2):c.2545A>C (p.Thr849Pro) SNV
Germline
Chr16:2074389 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394278047 rs_781713438

1 SubmittersRCV002954248

NM_000548.5(TSC2):c.5069-10G>A SNV
Germline
Chr16:2088038 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA2575877205 rs_1409032179

3 SubmittersRCV003015525

NM_000368.5(TSC1):c.2851C>T (p.Gln951Ter) SNV
Germline
Chr9:132897308 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375368870 rs_2538481248

1 SubmittersRCV002996673

NM_000368.5(TSC1):c.1439-15C>G SNV
Germline
Chr9:132906154 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA2580079952 rs_763538221

2 SubmittersRCV003008083RCV004007767

NM_000548.5(TSC2):c.3761C>A (p.Ser1254Ter) SNV
Germline
Chr16:2081745 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394293204 rs_1596400563

2 SubmittersRCV003031163RCV004765623

NM_000548.5(TSC2):c.337-2A>C SNV
Germline
Chr16:2054294 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394306360 rs_397515316

1 SubmittersRCV003038865

NM_000548.5(TSC2):c.2698T>G (p.Cys900Gly) SNV
Germline
Chr16:2076126 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394279424 rs_1354917235

1 SubmittersRCV003032519

NM_000548.5(TSC2):c.336+1G>T SNV
Germline
Chr16:2053453 Pathogenic/Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Multiple Submitters
No Conflicts
CA394306098 rs_45517102

2 SubmittersRCV003020042

NM_000548.5(TSC2):c.4710G>C (p.Arg1570Ser) SNV
Germline
Chr16:2086240 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394307370 rs_1389060581

1 SubmittersRCV003019971

NM_000548.5(TSC2):c.472G>T (p.Glu158Ter) SNV
Germline
Chr16:2054431 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308552 rs_1596265482

1 SubmittersRCV003023508

NM_000368.5(TSC1):c.3065G>A (p.Arg1022Lys) SNV
Germline
Chr9:132896665 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375367632 rs_1392262248

2 SubmittersRCV003045507RCV005288880

NM_000548.5(TSC2):c.1443+2T>C SNV
Germline
Chr16:2063055 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394324188 rs_397515064

1 SubmittersRCV003026791

NM_000548.5(TSC2):c.2350A>G (p.Lys784Glu) SNV
Germline
Chr16:2072978 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA038516 rs_751172150

2 SubmittersRCV003042471

NM_000548.5(TSC2):c.3398-1G>C SNV
Germline
Chr16:2080164 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394288323 rs_45517293

1 SubmittersRCV003042599

NM_000548.5(TSC2):c.1467C>G (p.Val489=) SNV
Germline
Chr16:2064295 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA492962864 rs_2151188723

2 SubmittersRCV003047762

NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr) SNV
Germline
Chr9:132902756 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA375359967 rs_1392095786

4 SubmittersRCV003030450RCV004681606RCV004804539RCV005045172

NM_000548.5(TSC2):c.1443+1G>A SNV
Germline
Chr16:2063054 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394324178 rs_397515257

2 SubmittersRCV003043293RCV005626730

NM_000368.5(TSC1):c.2502+1G>T SNV
Germline
Chr9:132901588 Conflicting classifications of pathogenicity Tuberous sclerosis 1 Criteria Provided
Conflicting Classifications
CA375358236 rs_2131702478

2 SubmittersRCV003047193

NM_000548.5(TSC2):c.4784G>A (p.Gly1595Glu) SNV
Germline
Chr16:2086314 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394307959 rs_2090782357

2 SubmittersRCV003039214RCV003170912

NM_000548.5(TSC2):c.599+2T>A SNV
Germline
Chr16:2055521 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394309957 rs_45484992

1 SubmittersRCV003052295

NM_000368.5(TSC1):c.1607T>A (p.Leu536Ter) SNV
Germline
Chr9:132905971 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375364753 rs_776633158

1 SubmittersRCV003044937

NM_000548.5(TSC2):c.1600-1G>C SNV
Germline
Chr16:2065518 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394267519 rs_45517184

1 SubmittersRCV003044607

NM_000548.5(TSC2):c.437T>C (p.Leu146Pro) SNV
Germline
Chr16:2054396 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA394308339 rs_397514996

2 SubmittersRCV003056289

NM_022370.4(ROBO3):c.3911C>T (p.Ala1304Val) SNV
Germline
Chr11:124879901 Conflicting classifications of pathogenicity Inborn genetic diseases
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA6344318 rs_772718098

2 SubmittersRCV002719693RCV005626769

NM_000548.5(TSC2):c.109G>T (p.Glu37Ter) SNV
Germline
Chr16:2048724 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394301559 rs_2150972985

1 SubmittersRCV003128282

NM_000548.5(TSC2):c.3127A>T (p.Lys1043Ter) SNV
Germline
Chr16:2079192 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394284988 rs_2151435107

1 SubmittersRCV003132983

NM_000548.5(TSC2):c.2597C>T (p.Ala866Val) SNV
Germline
Chr16:2075850 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394278406 rs_1261601321

3 SubmittersRCV003142885RCV004246082

NM_000548.5(TSC2):c.1659C>A (p.Tyr553Ter) SNV
Unknown
Chr16:2065578 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394268056 rs_1358358656

1 SubmittersRCV003153223

NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile) SNV
Germline
Chr9:132896753 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA375368095 rs_1177810382

3 SubmittersRCV004009623RCV003154683

NM_000368.5(TSC1):c.3427C>G (p.Pro1143Ala) SNV
Germline
Chr9:132896303 Conflicting classifications of pathogenicity Ovarian cancer
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA036962 rs_574823234

3 SubmittersRCV003154826RCV006292349RCV006473749

NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg) SNV
Germline
Chr9:132903685 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375360758 rs_1368576380

2 SubmittersRCV003176673RCV003505304

NM_000368.5(TSC1):c.2172C>T (p.Ile724=) SNV
Germline
Chr9:132903687 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA467590674 rs_1845495899

2 SubmittersRCV003168075RCV005100997

NM_000548.5(TSC2):c.4573C>A (p.Gln1525Lys) SNV
Germline
Chr16:2085233 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA051854 rs_45517352

3 SubmittersRCV003171902RCV005101057RCV006546488

NM_000548.5(TSC2):c.1074G>C (p.Trp358Cys) SNV
Germline
Chr16:2060768 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394317996 rs_1229561585

2 SubmittersRCV003213895RCV003626829

NM_000548.5(TSC2):c.3393G>A (p.Met1131Ile) SNV
Germline
Chr16:2079665 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394286812 rs_1297504532

2 SubmittersRCV003213896RCV006561232

NM_000548.5(TSC2):c.4582G>T (p.Glu1528Ter) SNV
Germline
Chr16:2085242 Pathogenic Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Single Submitter
CA394304416 rs_2090622255

1 SubmittersRCV003224752

NM_000548.5(TSC2):c.2126T>G (p.Val709Gly) SNV
Germline
Chr16:2072269 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394274803 rs_1326276839

1 SubmittersRCV003233058

NM_000548.5(TSC2):c.4223G>A (p.Gly1408Asp) SNV
Germline
Chr16:2084445 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394300149 rs_202068995

1 SubmittersRCV003234985

NM_000548.5(TSC2):c.2878T>C (p.Ser960Pro) SNV
Germline
Chr16:2077638 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394280996 rs_1005027685

2 SubmittersRCV003297050RCV006612990

NM_000548.5(TSC2):c.4754A>G (p.Lys1585Arg) SNV
Germline
Chr16:2086284 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA052417 rs_780758839

3 SubmittersRCV003297059RCV003626841RCV004009708

NM_000548.5(TSC2):c.2893G>T (p.Glu965Ter) SNV
Germline
Chr16:2077653 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394281095 rs_1372107115

2 SubmittersRCV003297060RCV004796796

NM_000548.5(TSC2):c.81T>A (p.Asn27Lys) SNV
Germline
Chr16:2048696 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA394301307 rs_2548350127

2 SubmittersRCV003297083RCV004009710

NM_000548.5(TSC2):c.4662+1G>T SNV
Germline
Chr16:2085323 Pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Single Submitter
CA394305130 rs_45514095

2 SubmittersRCV003329612RCV003333812

NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr) SNV
Germline
Chr16:2084672 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA051205 rs_748698490

3 SubmittersRCV003360997RCV003459850RCV003626855

NM_000368.5(TSC1):c.455T>C (p.Leu152Pro) SNV
Germline
Chr9:132923401 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA037542 rs_755791846

3 SubmittersRCV003345615RCV006472498RCV006548532

NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly) SNV
Germline
Chr9:132903721 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375360931 rs_1286421874

2 SubmittersRCV003379552RCV003614230

NM_000368.5(TSC1):c.508G>A (p.Gly170Ser) SNV
Germline
Chr9:132923348 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA375373097 rs_2132185994

4 SubmittersRCV003379956RCV004780540RCV005104221

NM_000548.5(TSC2):c.2919G>T (p.Glu973Asp) SNV
Germline
Chr16:2077679 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394281314 rs_2543976914

2 SubmittersRCV003385873RCV005061352

NM_000548.5(TSC2):c.4863C>A (p.Ile1621=) SNV
Germline
Chr16:2086745 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492959708 rs_142085017

2 SubmittersRCV003382386RCV003512217

NM_000368.5(TSC1):c.737G>T (p.Arg246Met) SNV
Germline
Chr9:132921363 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA375371190 rs_118203436

3 SubmittersRCV003388933RCV005104282RCV005414692

NM_000548.5(TSC2):c.2166C>A (p.Leu722=) SNV
Germline
Chr16:2072309 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA493042691 rs_1009050362

4 SubmittersRCV003395227RCV003626865RCV004364533

NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter) SNV
Unknown
Chr9:132910605 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375366848 rs_1564487289

1 SubmittersRCV003448548

NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val) SNV
Germline
Chr16:2084588 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394301736 rs_1199848222

2 SubmittersRCV003464713RCV003779132

NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met) SNV
Germline
Chr16:2088577 Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA055292 rs_571792728

3 SubmittersRCV003464714RCV004949101RCV005100237

NM_000368.5(TSC1):c.7C>T (p.Gln3Ter) SNV
Unknown
Chr9:132928866 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375463 rs_2539147032

1 SubmittersRCV003450557

NM_000548.5(TSC2):c.4569+2T>C SNV
Germline
Chr16:2085028 Pathogenic/Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Multiple Submitters
No Conflicts
CA394303140 rs_1555514984

2 SubmittersRCV003452623

NM_000548.5(TSC2):c.1728C>G (p.Tyr576Ter) SNV
Germline
Chr16:2070467 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts
CA394272684 rs_966102111

2 SubmittersRCV003481860RCV006473288

NM_000548.5(TSC2):c.1744C>T (p.His582Tyr) SNV
Germline
Chr16:2070483 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394272762 rs_1385373190

2 SubmittersRCV003512375RCV005764845

NM_000368.5(TSC1):c.913+2T>G SNV
Germline
Chr9:132912280 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375368962 rs_2538885807

1 SubmittersRCV003505784

NM_000548.5(TSC2):c.4804G>T (p.Glu1602Ter) SNV
Germline
Chr16:2086334 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394308058 rs_2151575081

1 SubmittersRCV003512363

NM_000368.5(TSC1):c.2722C>A (p.Arg908=) SNV
Germline
Chr9:132897514 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA467812828 rs_748845915

3 SubmittersRCV003505502RCV004011350

NM_000548.5(TSC2):c.849-2A>C SNV
Germline
Chr16:2058745 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394314862 rs_45517134

1 SubmittersRCV003512817

NM_000548.5(TSC2):c.2765T>A (p.Leu922Ter) SNV
Germline
Chr16:2076513 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394279867 rs_2543929566

1 SubmittersRCV003512340

NM_000368.5(TSC1):c.488C>G (p.Ser163Ter) SNV
Germline
Chr9:132923368 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375373188 rs_1846671274

1 SubmittersRCV003505517

NM_000548.5(TSC2):c.1375G>A (p.Gly459Ser) SNV
Germline
Chr16:2062985 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394323652 rs_1567432890

2 SubmittersRCV003512397RCV005505682

NM_000548.5(TSC2):c.774+3G>A SNV
Germline
Chr16:2056772 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA2590038708 rs_2151081990

2 SubmittersRCV003513098

NM_000368.5(TSC1):c.211-8A>T SNV
Germline
Chr9:132925747 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2697558144 rs_753082880

3 SubmittersRCV003505915RCV006259479

NM_000548.5(TSC2):c.3815-15G>T SNV
Germline
Chr16:2082421 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA656221071 rs_45480591

2 SubmittersRCV003513130

NM_000548.5(TSC2):c.4616C>A (p.Ser1539Ter) SNV
Germline
Chr16:2085276 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394304747 rs_2151551960

1 SubmittersRCV003513375

NM_000548.5(TSC2):c.4783G>C (p.Gly1595Arg) SNV
Germline
Chr16:2086313 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394307955 rs_45517369

1 SubmittersRCV003513445

NM_000548.5(TSC2):c.1037T>A (p.Ile346Asn) SNV
Germline
Chr16:2060731 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394317694 rs_2151136498

1 SubmittersRCV003513552

NM_000548.5(TSC2):c.1362-1G>A SNV
Germline
Chr16:2062971 Pathogenic Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394323540 rs_2151170644

2 SubmittersRCV003513633RCV006444118

NM_000548.5(TSC2):c.2726T>A (p.Val909Asp) SNV
Germline
Chr16:2076154 Likely pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394279555 rs_2151388871

2 SubmittersRCV003513636RCV005603836

NM_000548.5(TSC2):c.4149C>T (p.Ser1383=) SNV
Germline
Chr16:2084371 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA493043109 rs_2151524944

1 SubmittersRCV003513637

NM_000548.5(TSC2):c.1599+2T>G SNV
Germline
Chr16:2064429 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394326824 rs_45517183

1 SubmittersRCV003511489

NM_000368.5(TSC1):c.2503-1G>A SNV
Germline
Chr9:132900838 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375370378 rs_118203705

1 SubmittersRCV003506562

NM_000368.5(TSC1):c.211-2A>G SNV
Germline
Chr9:132925741 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375374901 rs_118203352

1 SubmittersRCV003506563

NM_000548.5(TSC2):c.1803C>G (p.Ser601Arg) SNV
Germline
Chr16:2070542 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394272954 rs_1044401463

1 SubmittersRCV003511548

NM_000548.5(TSC2):c.1258-4A>T SNV
Germline
Chr16:2062493 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2697549629 rs_2086763634

2 SubmittersRCV003511603RCV004676231

NM_000548.5(TSC2):c.4662+2T>C SNV
Germline
Chr16:2085324 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394305138 rs_2151554076

1 SubmittersRCV003511640

NM_000548.5(TSC2):c.5156C>A (p.Ala1719Glu) SNV
Germline
Chr16:2088135 Conflicting classifications of pathogenicity Tuberous sclerosis 2
not specified
Criteria Provided
Conflicting Classifications
CA394312666 rs_2091100543

3 SubmittersRCV003513793RCV005419659

NM_000548.5(TSC2):c.3086T>G (p.Met1029Arg) SNV
Germline
Chr16:2079151 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394284643 rs_1057522974

1 SubmittersRCV003511820

NM_000368.5(TSC1):c.745A>C (p.Arg249=) SNV
Germline
Chr9:132912450 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA467593618 rs_118203443

2 SubmittersRCV003504774RCV004780587

NM_000368.5(TSC1):c.663+2T>C SNV
Germline
Chr9:132921817 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375371597 rs_2132148804

1 SubmittersRCV003504759

NM_000548.5(TSC2):c.1443G>T (p.Glu481Asp) SNV
Germline
Chr16:2063053 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394324174 rs_137854876

1 SubmittersRCV003512464

NM_000548.5(TSC2):c.3616A>C (p.Thr1206Pro) SNV
Germline
Chr16:2081600 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394291424 rs_1348376140

1 SubmittersRCV003512652

NM_000368.5(TSC1):c.2578G>T (p.Glu860Ter) SNV
Germline
Chr9:132900762 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375370025 rs_1169898186

1 SubmittersRCV003504954

NM_000368.5(TSC1):c.1690G>T (p.Glu564Ter) SNV
Germline
Chr9:132905888 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375364193 rs_2131832036

1 SubmittersRCV003505033

NM_000548.5(TSC2):c.2355+19A>T SNV
Germline
Chr16:2073002 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA276740102 rs_535037838

2 SubmittersRCV003512560RCV005014806

NM_000368.5(TSC1):c.1648C>T (p.Gln550Ter) SNV
Germline
Chr9:132905930 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375364470 rs_118203553

1 SubmittersRCV003505562

NM_000548.5(TSC2):c.2545+1G>A SNV
Germline
Chr16:2074390 Pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394278052 rs_2151356819

2 SubmittersRCV003626932RCV005414702

NM_000548.5(TSC2):c.2409G>A (p.Gln803=) SNV
Germline
Chr16:2074253 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492953054 rs_1400548727

2 SubmittersRCV003627597RCV005289007

NM_000368.5(TSC1):c.1160C>T (p.Pro387Leu) SNV
Germline
Chr9:132910674 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA027193 rs_764150061

2 SubmittersRCV003614470RCV005289008

NM_000548.5(TSC2):c.4348C>T (p.Pro1450Ser) SNV
Germline
Chr16:2084570 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA050914 rs_376381196

2 SubmittersRCV003627638RCV005505707

NM_000548.5(TSC2):c.1120-7A>G SNV
Germline
Chr16:2061864 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2202009547 rs_1459785336

4 SubmittersRCV006548687RCV003627797RCV006259499

NM_000548.5(TSC2):c.2967-7C>T SNV
Germline
Chr16:2079025 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631117449 rs_2544023060

3 SubmittersRCV003627823RCV006264103

NM_000548.5(TSC2):c.1932C>A (p.Cys644Ter) SNV
Germline
Chr16:2071602 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394273334 rs_777665839

1 SubmittersRCV003627897

NM_000548.5(TSC2):c.1756G>A (p.Val586Met) SNV
Germline
Chr16:2070495 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA033393 rs_779425782

2 SubmittersRCV003627950RCV005289017

NM_000368.5(TSC1):c.364-1G>A SNV
Germline
Chr9:132923493 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375373786 rs_118203376

1 SubmittersRCV003613830

NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter) SNV
Germline
Chr9:132927267 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375161 rs_2132269028

1 SubmittersRCV003613744

NM_000368.5(TSC1):c.3329C>T (p.Thr1110Ile) SNV
Germline
Chr9:132896401 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375366603 rs_952996030

2 SubmittersRCV003613748RCV005505714

NM_000368.5(TSC1):c.2391+1G>T SNV
Germline
Chr9:132902604 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375358970 rs_1060503224

1 SubmittersRCV003613875

NM_000548.5(TSC2):c.3610+2T>C SNV
Germline
Chr16:2080379 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394289767 rs_2151462990

1 SubmittersRCV003628034

NM_000368.5(TSC1):c.210+1G>T SNV
Germline
Chr9:132927200 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375375015 rs_118203348

1 SubmittersRCV003613859

NM_000548.5(TSC2):c.5141A>G (p.Gln1714Arg) SNV
Germline
Chr16:2088120 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA394312541 rs_2151622840

2 SubmittersRCV003628296RCV003735281

NM_000368.5(TSC1):c.913+2T>A SNV
Germline
Chr9:132912280 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375368960 rs_2538885807

1 SubmittersRCV003614017

NM_000548.5(TSC2):c.2743-11C>A SNV
Germline
Chr16:2076480 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA973767011 rs_137854426

2 SubmittersRCV003628412RCV005014856

NM_000548.5(TSC2):c.336G>A (p.Gln112=) SNV
Germline
Chr16:2053452 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA492955284 rs_2151029157

1 SubmittersRCV003628224

NM_000548.5(TSC2):c.3307A>T (p.Arg1103Ter) SNV
Germline
Chr16:2079579 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394286541 rs_2544066099

1 SubmittersRCV003628265

NM_000548.5(TSC2):c.1523C>A (p.Ala508Asp) SNV
Germline
Chr16:2064351 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394326238 rs_1336558090

1 SubmittersRCV003628286

NM_000368.5(TSC1):c.673G>T (p.Glu225Ter) SNV
Germline
Chr9:132921427 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375371498 rs_572899352

1 SubmittersRCV003614026

NM_000548.5(TSC2):c.690C>A (p.Cys230Ter) SNV
Germline
Chr16:2056685 Pathogenic Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA394312588 rs_2151078845

2 SubmittersRCV003628303RCV004950555

NM_000548.5(TSC2):c.1213G>T (p.Glu405Ter) SNV
Germline
Chr16:2061964 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394321034 rs_765622787

1 SubmittersRCV003628334

NM_000548.5(TSC2):c.2960T>C (p.Val987Ala) SNV
Germline
Chr16:2077720 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394281585 rs_1391148381

2 SubmittersRCV003628474RCV004371799

NM_000548.5(TSC2):c.3610+419C>G SNV
Germline
Chr16:2080796 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA718913465 rs_1195418667

1 SubmittersRCV003628437

NM_000548.5(TSC2):c.2292G>C (p.Leu764=) SNV
Germline
Chr16:2072920 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492952632 rs_2543765925

3 SubmittersRCV003628574RCV005014867RCV005301341

NM_000548.5(TSC2):c.728T>C (p.Leu243Pro) SNV
Germline
Chr16:2056723 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394312739 rs_2151080318

1 SubmittersRCV003628481

NM_000368.5(TSC1):c.3018G>A (p.Gly1006=) SNV
Germline
Chr9:132896712 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications
CA200925806 rs_910475358

2 SubmittersRCV003614734RCV004011717

NM_000548.5(TSC2):c.1340C>A (p.Ala447Glu) SNV
Germline
Chr16:2062579 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Criteria Provided
Conflicting Classifications
CA394322559 rs_45486591

2 SubmittersRCV003626174RCV005014871

NM_000548.5(TSC2):c.3975C>T (p.Gly1325=) SNV
Germline
Chr16:2083786 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA492956753 rs_2151513295

2 SubmittersRCV003626201RCV004950579

NM_000368.5(TSC1):c.658G>A (p.Val220Ile) SNV
Germline
Chr9:132921824 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA038378 rs_397514830

2 SubmittersRCV003615041RCV005764885

NM_000548.5(TSC2):c.2735T>C (p.Ile912Thr) SNV
Germline
Chr16:2076163 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394279601 rs_2151389141

1 SubmittersRCV003627415

NM_000548.5(TSC2):c.1257+9C>G SNV
Germline
Chr16:2062017 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2631117667 rs_1166139497

3 SubmittersRCV003627544RCV006259522

NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter) SNV
Germline
Chr9:132911024 Pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375367389 rs_2131957828

2 SubmittersRCV003615393

NM_000548.5(TSC2):c.4703C>T (p.Ser1568Phe) SNV
Germline
Chr16:2086233 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394307315 rs_1555516036

2 SubmittersRCV003837890RCV006292483

NM_000548.5(TSC2):c.599+9A>G SNV
Germline
Chr16:2055528 Conflicting classifications of pathogenicity Tuberous sclerosis 2 Criteria Provided
Conflicting Classifications
CA2631113465 rs_2548437341

2 SubmittersRCV003845920

NM_000548.5(TSC2):c.3517A>G (p.Thr1173Ala) SNV
Germline
Chr16:2080284 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Lymphangiomyomatosis
Criteria Provided
Conflicting Classifications
CA047264 rs_766827673

2 SubmittersRCV003842933RCV005392715

NM_000368.5(TSC1):c.2831C>T (p.Ala944Val) SNV
Germline
Chr9:132897328 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Tuberous sclerosis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA375368915 rs_2131628148

4 SubmittersRCV003879817RCV004006174RCV005871353RCV005507772

NM_000548.5(TSC2):c.1221C>G (p.Tyr407Ter) SNV
Germline
Chr16:2061972 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter
CA394321135 rs_397514897

1 SubmittersRCV003990344

NM_000548.5(TSC2):c.982G>A (p.Ala328Thr) SNV
Germline
Chr16:2060676 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394317135 rs_45517152

2 SubmittersRCV004006281RCV005301426

NM_000548.5(TSC2):c.*5G>T SNV
Germline
Chr16:2088615 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA620705139 rs_201342697

2 SubmittersRCV004013206RCV005621285

NM_000548.5(TSC2):c.*6G>C SNV
Germline
Chr16:2088616 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA718906077 rs_397515008

2 SubmittersRCV004012362RCV005621288

NM_000368.5(TSC1):c.3018G>T (p.Gly1006=) SNV
Germline
Chr9:132896712 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA467813076 rs_910475358

2 SubmittersRCV004012628RCV005621290

NM_000548.5(TSC2):c.2640-13C>A SNV
Germline
Chr16:2076055 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA2731570782 rs_201184637

2 SubmittersRCV004010169RCV005103224

NM_000548.5(TSC2):c.3074C>G (p.Thr1025Ser) SNV
Germline
Chr16:2079139 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA394284557 rs_1371092393

3 SubmittersRCV004010215RCV005064960RCV005507780

NM_000368.5(TSC1):c.415A>G (p.Met139Val) SNV
Germline
Chr9:132923441 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA037494 rs_780442112

2 SubmittersRCV004015432RCV005103349

NM_000368.5(TSC1):c.1997+2T>C SNV
Germline
Chr9:132905579 Likely pathogenic Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA375362200 rs_2131806725

2 SubmittersRCV004372001RCV004018082

NM_000368.5(TSC1):c.2626-2A>T SNV
Germline
Chr9:132897612 Pathogenic Tuberous sclerosis syndrome
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Familial cancer of breast
Criteria Provided
Single Submitter
CA375369736 rs_118203717

2 SubmittersRCV004018339RCV005937414RCV005937415RCV005937413

NM_000368.5(TSC1):c.1264-1G>C SNV
Germline
Chr9:132907371 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA375366234 rs_1554816432

1 SubmittersRCV004018374

NM_000368.5(TSC1):c.2665G>T (p.Glu889Ter) SNV
Germline
Chr9:132897571 Likely pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA375369577 rs_775589156

1 SubmittersRCV004018379

NM_000368.5(TSC1):c.2519C>A (p.Ser840Ter) SNV
Germline
Chr9:132900821 Pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts
CA375370298 rs_1564475110

2 SubmittersRCV004442552

NM_000368.5(TSC1):c.2392-1G>T SNV
Unknown
Chr9:132901700 Likely pathogenic Tuberous sclerosis 1
Malignant tumor of urinary bladder
Criteria Provided
Single Submitter
CA375358841 rs_397514822

2 SubmittersRCV004442600RCV005939150

NM_000368.5(TSC1):c.2392-2A>G SNV
Unknown
Chr9:132901701 Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter
CA375358849 rs_2131710621

1 SubmittersRCV004442608

NM_000548.5(TSC2):c.648+1G>C SNV
Germline
Chr16:2056245 Pathogenic Tuberous sclerosis 2 Criteria Provided
Multiple Submitters
No Conflicts
CA394311107 rs_45488893

2 SubmittersRCV004515781

NM_000548.5(TSC2):c.1559A>C (p.His520Pro) SNV
Germline
Chr16:2064387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394326506 rs_1220672669

2 SubmittersRCV004518796RCV006613337

NM_000548.5(TSC2):c.2302C>T (p.Pro768Ser) SNV
Germline
Chr16:2072930 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394276608 rs_1422055326

2 SubmittersRCV004520796RCV005100748

NM_000368.5(TSC1):c.2013C>T (p.Ser671=) SNV
Germline
Chr9:132904439 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications
CA467590816 rs_1845545985

2 SubmittersRCV004525359RCV005100731

NM_000548.5(TSC2):c.3765G>T (p.Val1255=) SNV
Germline
Chr16:2081749 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA493043231 rs_2151483991

2 SubmittersRCV004520837RCV005015175

NM_000548.5(TSC2):c.3928G>T (p.Val1310Leu) SNV
Germline
Chr16:2083739 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394297228 rs_1046522975

2 SubmittersRCV004520840RCV005100751

NM_000548.5(TSC2):c.5194C>T (p.Pro1732Ser) SNV
Germline
Chr16:2088260 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA054379 rs_759007975

2 SubmittersRCV004520869RCV006488881

NM_000548.5(TSC2):c.51T>G (p.Ile17Met) SNV
Germline
Chr16:2048666 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA394301052 rs_2150971085

2 SubmittersRCV004520870RCV006564925

NM_000548.5(TSC2):c.588A>T (p.Ala196=) SNV
Germline
Chr16:2055508 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications
CA492955904 rs_941407136

2 SubmittersRCV004520881RCV005621298

NM_000548.5(TSC2):c.225+2T>G SNV
Germline
Chr16:2050488 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA394303686 rs_397515105

1 SubmittersRCV004556116

NM_000368.5(TSC1):c.244A>T (p.Lys82Ter) SNV
Germline
Chr9:132925706 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA375374740 rs_2132237228

1 SubmittersRCV004556160

NM_000548.5(TSC2):c.1856T>A (p.Leu619Ter) SNV
Germline
Chr16:2071526 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter
CA394273061 rs_2543673284

1 SubmittersRCV004556163

NM_000368.5(TSC1):c.680T>C (p.Val227Ala) SNV
Germline
Chr9:132921420 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004680257RCV005103500

NM_000548.5(TSC2):c.1460C>G (p.Ser487Ter) SNV
Germline
Chr16:2064288 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV004764717

NM_000548.5(TSC2):c.5240T>A (p.Ile1747Asn) SNV
Germline
Chr16:2088306 Pathogenic/Likely pathogenic Condition: not provided
Tuberous sclerosis 2
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004779879RCV005105010

NM_000368.5(TSC1):c.1861A>C (p.Ile621Leu) SNV
Germline
Chr9:132905717 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004791806RCV005764970

NM_000368.5(TSC1):c.741G>A (p.Trp247Ter) SNV
Germline
Chr9:132912454 Pathogenic Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Single Submitter

1 SubmittersRCV004795499

NM_000548.5(TSC2):c.4849+1G>C SNV
Germline
Chr16:2086380 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV004795504

NM_000548.5(TSC2):c.599+1G>C SNV
Germline
Chr16:2055520 Pathogenic/Likely pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004821450RCV005861382

NM_000368.5(TSC1):c.1364C>T (p.Thr455Ile) SNV
Germline
Chr9:132906805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications

3 SubmittersRCV004949452RCV006484205RCV006551321

NM_000368.5(TSC1):c.1717C>A (p.Gln573Lys) SNV
Germline
Chr9:132905861 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949496RCV006484206

NM_000548.5(TSC2):c.547T>C (p.Leu183=) SNV
Germline
Chr16:2055467 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949543RCV005109973

NM_000548.5(TSC2):c.2953C>T (p.His985Tyr) SNV
Germline
Chr16:2077713 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications

3 SubmittersRCV004949559RCV005061624RCV006551323

NM_000548.5(TSC2):c.2664G>C (p.Leu888=) SNV
Germline
Chr16:2076092 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949561RCV005109975

NM_000548.5(TSC2):c.365T>G (p.Leu122Arg) SNV
Germline
Chr16:2054324 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004950891RCV005109980

NM_000548.5(TSC2):c.672C>A (p.Ala224=) SNV
Germline
Chr16:2056667 Conflicting classifications of pathogenicity Lymphangiomyomatosis
Tuberous sclerosis 2
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019827RCV005621325

NM_000548.5(TSC2):c.1599+4A>T SNV
Germline
Chr16:2064431 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019833RCV005112609

NM_000548.5(TSC2):c.1832G>C (p.Arg611Pro) SNV
Germline
Chr16:2070571 Pathogenic Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Criteria Provided
Single Submitter

1 SubmittersRCV005019834

NM_000548.5(TSC2):c.3821C>G (p.Ser1274Cys) SNV
Germline
Chr16:2082442 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Lymphangiomyomatosis
Isolated focal cortical dysplasia type II
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005019846RCV005112612

NM_000548.5(TSC2):c.3611-1G>A SNV
Germline
Chr16:2081594 Likely pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005001502

NM_000548.5(TSC2):c.600-145C>T SNV
Germline
Chr16:2056051 Conflicting classifications of pathogenicity Condition: not provided
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005054605RCV005105397RCV005358196

NM_000548.5(TSC2):c.1361G>A (p.Arg454Lys) SNV
Germline
Chr16:2062600 Likely pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005071877RCV006455959

NM_000548.5(TSC2):c.2223T>G (p.Leu741=) SNV
Germline
Chr16:2072851 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005121086RCV005303490

NM_000548.5(TSC2):c.2625C>A (p.Tyr875Ter) SNV
Germline
Chr16:2075878 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005118790

NM_000548.5(TSC2):c.4654G>A (p.Glu1552Lys) SNV
Germline
Chr16:2085314 Conflicting classifications of pathogenicity Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005112362RCV005515705

NM_000548.5(TSC2):c.4692T>G (p.Asn1564Lys) SNV
Germline
Chr16:2086222 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005112366

NM_000548.5(TSC2):c.975+1G>C SNV
Germline
Chr16:2058874 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005130309

NM_000368.5(TSC1):c.2586T>A (p.Tyr862Ter) SNV
Germline
Chr9:132900754 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter

1 SubmittersRCV005131101

NM_000548.5(TSC2):c.5035G>T (p.Glu1679Ter) SNV
Germline
Chr16:2087908 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005130168

NM_000548.5(TSC2):c.4493+2T>C SNV
Germline
Chr16:2084717 Pathogenic Tuberous sclerosis 2 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005126973

NM_000548.5(TSC2):c.1242T>A (p.Cys414Ter) SNV
Germline
Chr16:2061993 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005151292

NM_000368.5(TSC1):c.1525C>A (p.Arg509=) SNV
Germline
Chr9:132906053 Conflicting classifications of pathogenicity Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005175521RCV005291197

NM_000548.5(TSC2):c.4007C>A (p.Ser1336Ter) SNV
Germline
Chr16:2084229 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005165247

NM_000548.5(TSC2):c.5160+4A>T SNV
Germline
Chr16:2088143 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005179306

NM_000368.5(TSC1):c.1998-2A>T SNV
Germline
Chr9:132904456 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter

1 SubmittersRCV005200786

NM_000548.5(TSC2):c.600-3C>G SNV
Germline
Chr16:2056193 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005195782

NM_000548.5(TSC2):c.2355+1G>T SNV
Germline
Chr16:2072984 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005195791

NM_000548.5(TSC2):c.3239T>G (p.Leu1080Ter) SNV
Germline
Chr16:2079383 Likely pathogenic Tuberous sclerosis 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005253446RCV006259657

NM_000548.5(TSC2):c.3393G>C (p.Met1131Ile) SNV
Germline
Chr16:2079665 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005255839

NM_000548.5(TSC2):c.226-3C>G SNV
Germline
Chr16:2053339 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005255841

NM_000368.5(TSC1):c.388A>C (p.Thr130Pro) SNV
Germline
Chr9:132923468 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter

1 SubmittersRCV005255990

NM_000368.5(TSC1):c.363+668G>C SNV
Unknown
Chr9:132924919 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter

1 SubmittersRCV005358352

NM_000368.5(TSC1):c.363+668G>A SNV
Germline
Chr9:132924919 Pathogenic/Likely pathogenic Tuberous sclerosis syndrome
Lymphangiomyomatosis
Tuberous sclerosis 1
Isolated focal cortical dysplasia type II
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005356906RCV006257402

NM_000548.5(TSC2):c.5259+2T>A SNV
Germline
Chr16:2088327 Conflicting classifications of pathogenicity Tuberous sclerosis syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005408418RCV005515751

NM_000548.5(TSC2):c.4874T>A (p.Met1625Lys) SNV
Germline
Chr16:2086756 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005416183

NM_000548.5(TSC2):c.461C>A (p.Thr154Asn) SNV
Germline
Chr16:2054420 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Tuberous sclerosis syndrome
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005513644RCV006480012RCV006553545

NM_000368.5(TSC1):c.664-3T>C SNV
Germline
Chr9:132921439 Conflicting classifications of pathogenicity Tuberous sclerosis 1 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005621546

NM_000548.5(TSC2):c.138+1G>T SNV
Germline
Chr16:2048754 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005622890

NM_000368.5(TSC1):c.2535G>A (p.Met845Ile) SNV
Germline
Chr9:132900805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005759222RCV006489757

NM_000368.5(TSC1):c.2527C>T (p.Gln843Ter) SNV
Germline
Chr9:132900813 Pathogenic/Likely pathogenic Tuberous sclerosis 1 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005859392

NM_000548.5(TSC2):c.1792T>A (p.Tyr598Asn) SNV
Germline
Chr16:2070531 Likely pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005866677

NM_000548.5(TSC2):c.3277G>T (p.Glu1093Ter) SNV
Germline
Chr16:2079421 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005866712

NM_000548.5(TSC2):c.523G>T (p.Glu175Ter) SNV
Germline
Chr16:2055443 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005866729

NM_000548.5(TSC2):c.4471A>T (p.Lys1491Ter) SNV
Germline
Chr16:2084693 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005885872

NM_000548.5(TSC2):c.1944C>A (p.Tyr648Ter) SNV
Germline
Chr16:2071614 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005886067

NM_000548.5(TSC2):c.3337G>T (p.Glu1113Ter) SNV
Germline
Chr16:2079609 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV005938378

NM_000548.5(TSC2):c.5023C>T (p.Pro1675Ser) SNV
Germline
Chr16:2087896 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006249275

NM_000548.5(TSC2):c.4882A>T (p.Lys1628Ter) SNV
Germline
Chr16:2086764 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006278360

NM_000548.5(TSC2):c.2945T>C (p.Val982Ala) SNV
Germline
Chr16:2077705 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV006285354RCV006475487

NM_000548.5(TSC2):c.481+1G>C SNV
Germline
Chr16:2054441 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006437299

NM_000548.5(TSC2):c.899G>T (p.Gly300Val) SNV
Germline
Chr16:2058797 Likely pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006437330

NM_000548.5(TSC2):c.1257+1G>T SNV
Germline
Chr16:2062009 Pathogenic Tuberous sclerosis syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006437335

NM_000548.5(TSC2):c.649-2A>G SNV
Germline
Chr16:2056642 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006509940

NM_000548.5(TSC2):c.4493G>T (p.Ser1498Ile) SNV
Germline
Chr16:2084715 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006505851

NM_000548.5(TSC2):c.1047T>A (p.Tyr349Ter) SNV
Germline
Chr16:2060741 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006507644

NM_000548.5(TSC2):c.1716+2T>G SNV
Germline
Chr16:2065637 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006511477

NM_000548.5(TSC2):c.3179G>A (p.Trp1060Ter) SNV
Germline
Chr16:2079323 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006511549

NM_000548.5(TSC2):c.390C>G (p.Tyr130Ter) SNV
Germline
Chr16:2054349 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006518522

NM_000368.5(TSC1):c.2225T>G (p.Leu742Ter) SNV
Germline
Chr9:132902771 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter

1 SubmittersRCV006518525

NM_000548.5(TSC2):c.2110A>T (p.Lys704Ter) SNV
Germline
Chr16:2072253 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006528389

NM_000548.5(TSC2):c.4259C>G (p.Ser1420Ter) SNV
Germline
Chr16:2084481 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006514880

NM_000368.5(TSC1):c.1327G>T (p.Gly443Ter) SNV
Germline
Chr9:132907307 Pathogenic Tuberous sclerosis 1 Criteria Provided
Single Submitter

1 SubmittersRCV006520732

NM_000548.5(TSC2):c.2337C>G (p.Tyr779Ter) SNV
Germline
Chr16:2072965 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006519623

NM_000548.5(TSC2):c.5061C>A (p.Cys1687Ter) SNV
Germline
Chr16:2087934 Pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006529357

NM_000548.5(TSC2):c.1234G>T (p.Glu412Ter) SNV
Germline
Chr16:2061985 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006555019

NM_000548.5(TSC2):c.2T>G (p.Met1Arg) SNV
Germline
Chr16:2048617 Likely pathogenic Tuberous sclerosis 2 Criteria Provided
Single Submitter

1 SubmittersRCV006619044