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Items: 1 to 100 of 117

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr17:16664739-20370783
MPRIP, NT5M, PEMT, PLD6, PRPSAP2, MYO15A, SLC5A10, SMCR8, SNORD3A, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2
Potocki-Lupski syndromePathogenic
(May 26, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr17:17579860-18469185
ALKBH5, ATPAF2, DRC3, DRG2, EVPLL, FLII, GID4, LGALS9C, LLGL1, MIEF2, MIR33B, MYO15A, RAI1, SHMT1, SMCR8, SREBF1, TOM1L2, TOP3A
Potocki-Lupski syndromePathogenicno assertion criteria provided
3.
GRCh37:
Chr17:16379813-17940963
ATPAF2, CCDC144A, COPS3, DRC3, FLCN, LRRC75A, MED9, MIR33B, MPRIP, NT5M, PEMT, PLD6, RAI1, RASD1, SREBF1, TNFRSF13B, TOM1L2, ZNF287, ZNF624
Potocki-Lupski syndromePathogenicno assertion criteria provided
4.
GRCh37:
Chr17:17129635
GRCh38:
Chr17:17226321
FLCNG84VHereditary cancer-predisposing syndrome, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Colorectal cancer,
Potocki-Lupski syndrome, not provided		Uncertain significance
(Jun 4, 2023)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr17:17124838
GRCh38:
Chr17:17221524
FLCNV295AMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome, Familial spontaneous pneumothorax
Likely benign
(Oct 11, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:17117181
GRCh38:
Chr17:17213867
FLCNMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome, Familial spontaneous pneumothorax
Likely benign
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:17124955
GRCh38:
Chr17:17221641
FLCNMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome
Likely benign
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:17120368
GRCh38:
Chr17:17217054
FLCNMultiple fibrofolliculomas, Colorectal cancer, Nonpapillary renal cell carcinoma,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Multiple fibrofolliculomas
Benign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr17:17131250
GRCh38:
Chr17:17227936
FLCNS68RPotocki-Lupski syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Colorectal cancer, Nonpapillary renal cell carcinoma, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Uncertain significance
(Oct 6, 2021)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:17125950
GRCh38:
Chr17:17222636
FLCNC215Y, C233YMultiple fibrofolliculomas, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Colorectal cancer, Nonpapillary renal cell carcinoma,
not provided		Uncertain significance
(May 22, 2023)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr17:17131403
GRCh38:
Chr17:17228089
FLCNR17CMultiple fibrofolliculomas, Hereditary cancer-predisposing syndrome, Potocki-Lupski syndrome,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Colorectal cancer,
Nonpapillary renal cell carcinoma		Uncertain significance
(Dec 21, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:16829153-20361747
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9B, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2
Potocki-Lupski syndromePathogenic
(Apr 7, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr17:17125949
GRCh38:
Chr17:17222635
FLCNnot provided, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas		Likely benign
(Oct 23, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr17:17118638
GRCh38:
Chr17:17215324
FLCNMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome
Likely benign
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:17125983
GRCh38:
Chr17:17222669
FLCNMultiple fibrofolliculomas, Colorectal cancer, Nonpapillary renal cell carcinoma,
Potocki-Lupski syndrome, Familial spontaneous pneumothorax, Multiple fibrofolliculomas
Likely benign
(Apr 27, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:17120491
GRCh38:
Chr17:17217177
FLCNMultiple fibrofolliculomas, Colorectal cancer, Nonpapillary renal cell carcinoma,
Potocki-Lupski syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Likely benign
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:16601603-20063369
AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR8, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B, ULK2
Potocki-Lupski syndromePathogenic
(Mar 15, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr17:17117162
GRCh38:
Chr17:17213848
FLCNK534R, K516Rnot provided, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Colorectal cancer,
Multiple fibrofolliculomas, Hereditary cancer-predisposing syndrome		Uncertain significance
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:17117000
GRCh38:
Chr17:17213686
FLCNR588L, R570LHereditary cancer-predisposing syndrome, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Colorectal cancer,
Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Feb 6, 2023)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr17:17118350
GRCh38:
Chr17:17215036
FLCNS496F, S514FPotocki-Lupski syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Nonpapillary renal cell carcinoma, Colorectal cancer, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Uncertain significance
(Apr 13, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:17122355
GRCh38:
Chr17:17219041
FLCNK365R, K347RNonpapillary renal cell carcinoma, Multiple fibrofolliculomas, Potocki-Lupski syndrome,
Colorectal cancer, Familial spontaneous pneumothorax, Multiple fibrofolliculomas
Uncertain significance
(Feb 24, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:17124924
GRCh38:
Chr17:17221610
FLCNFamilial spontaneous pneumothorax, Multiple fibrofolliculomas, Multiple fibrofolliculomas,
Nonpapillary renal cell carcinoma, Colorectal cancer, Familial spontaneous pneumothorax,
Potocki-Lupski syndrome		Uncertain significance
(Mar 14, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr17:17119690
GRCh38:
Chr17:17216376
FLCNMultiple fibrofolliculomas, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Nonpapillary renal cell carcinoma, Colorectal cancer, Familial spontaneous pneumothorax
Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr17:17131231
GRCh38:
Chr17:17227917
FLCNP74LHereditary cancer-predisposing syndrome, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Nonpapillary renal cell carcinoma, Colorectal cancer, Familial spontaneous pneumothorax,
Multiple fibrofolliculomas		Uncertain significance
(Aug 2, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:17118580
GRCh38:
Chr17:17215266
FLCNP451S, P469SPotocki-Lupski syndrome, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Colorectal cancer, Familial spontaneous pneumothorax, Multiple fibrofolliculomas
Uncertain significance
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:17127292
GRCh38:
Chr17:17223978
FLCNF188I, F206IOvarian cancer, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Nonpapillary renal cell carcinoma, Colorectal cancer, Familial spontaneous pneumothorax,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Jan 27, 2023)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr17:17131273
GRCh38:
Chr17:17227959
FLCNA60VHereditary cancer-predisposing syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Colorectal cancer, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
28.
GRCh37:
Chr17:17131373
GRCh38:
Chr17:17228059
FLCNA27SMultiple fibrofolliculomas, Familial spontaneous pneumothorax, Colorectal cancer,
Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:17122409
GRCh38:
Chr17:17219095
FLCNS329F, S347FMultiple fibrofolliculomas, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Colorectal cancer, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Hereditary cancer-predisposing syndrome, not provided		Uncertain significance
(Apr 20, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:17125860
GRCh38:
Chr17:17222546
FLCNT263K, T245Knot provided, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Colorectal cancer, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Multiple fibrofolliculomas, Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Mar 27, 2023)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr17:17127256
GRCh38:
Chr17:17223942
FLCNL218F, L200FMultiple fibrofolliculomas, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Colorectal cancer, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Hereditary cancer-predisposing syndrome, Familial spontaneous pneumothorax		Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:17116976
GRCh38:
Chr17:17213662
FLCNR578Q, R596QPotocki-Lupski syndrome, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Familial spontaneous pneumothorax, Colorectal cancer, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Uncertain significance
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr17:17118616
GRCh38:
Chr17:17215302
FLCNV457M, V439MPotocki-Lupski syndrome, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Familial spontaneous pneumothorax, Colorectal cancer, Multiple fibrofolliculomas,
Hereditary cancer-predisposing syndrome		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr17:17118578
GRCh38:
Chr17:17215264
FLCNFamilial spontaneous pneumothorax, Potocki-Lupski syndrome, Colorectal cancer,
Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas,
Hereditary cancer-predisposing syndrome		Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:17125838
GRCh38:
Chr17:17222524
FLCNMultiple fibrofolliculomas, Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma,
Multiple fibrofolliculomas, Potocki-Lupski syndrome, Colorectal cancer,
not specified, Hereditary cancer-predisposing syndrome		Likely benign
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:17122414
GRCh38:
Chr17:17219100
FLCNMultiple fibrofolliculomas, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Colorectal cancer, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Hereditary cancer-predisposing syndrome		Likely benign
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:17118551
GRCh38:
Chr17:17215237
FLCNPotocki-Lupski syndrome, Nonpapillary renal cell carcinoma, Colorectal cancer,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Likely benign
(Jun 26, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:17129483
GRCh38:
Chr17:17226169
FLCNMultiple fibrofolliculomas, Potocki-Lupski syndrome, Colorectal cancer,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas
Likely benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:17131222
GRCh38:
Chr17:17227908
FLCNK77TPotocki-Lupski syndrome, Colorectal cancer, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas
Uncertain significance
(Feb 19, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:17124920
GRCh38:
Chr17:17221606
FLCNR286W, R268WMultiple fibrofolliculomas, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
Colorectal cancer, Nonpapillary renal cell carcinoma, not provided,
Multiple fibrofolliculomas, Hereditary cancer-predisposing syndrome, not specified
Conflicting interpretations of pathogenicity
(Aug 15, 2023)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr17:17116994
GRCh38:
Chr17:17213680
FLCNP572H, P590HPotocki-Lupski syndrome, Colorectal cancer, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas
Uncertain significance
(Feb 22, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:17118594
GRCh38:
Chr17:17215280
FLCNR464H, R446HPotocki-Lupski syndrome, Colorectal cancer, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Hereditary cancer-predisposing syndrome,
not provided, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Jan 17, 2023)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr17:17118318
GRCh38:
Chr17:17215004
FLCNL525F, L507FPotocki-Lupski syndrome, Colorectal cancer, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Uncertain significance
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr17:17118568
GRCh38:
Chr17:17215254
FLCNE455K, E473KPotocki-Lupski syndrome, Colorectal cancer, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, not provided,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Mar 20, 2023)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr17:17129506
GRCh38:
Chr17:17226192
FLCNR127QPotocki-Lupski syndrome, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Colorectal cancer, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome,
not provided, Multiple fibrofolliculomas		Uncertain significance
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:17127273
GRCh38:
Chr17:17223959
FLCNR194Q, R212QPotocki-Lupski syndrome, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Colorectal cancer, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr17:17131366
GRCh38:
Chr17:17228052
FLCNL29PHereditary cancer-predisposing syndrome, not provided, Multiple fibrofolliculomas,
Multiple fibrofolliculomas, Colorectal cancer, Familial spontaneous pneumothorax,
Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome		Conflicting interpretations of pathogenicity
(Jul 11, 2023)		criteria provided, conflicting interpretations
48.
GRCh37:
Chr17:17122443
GRCh38:
Chr17:17219129
FLCNE318K, E336KColorectal cancer, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome,
not provided, Multiple fibrofolliculomas		Uncertain significance
(Dec 28, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:17125866
GRCh38:
Chr17:17222552
FLCNS243L, S261LColorectal cancer, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas, not provided		Uncertain significance
(Jul 27, 2023)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr17:17125859-17125867
GRCh38:
Chr17:17222545-17222553
FLCNColorectal cancer, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Multiple fibrofolliculomas
Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:17118622
GRCh38:
Chr17:17215308
FLCNV437L, V455LMultiple fibrofolliculomas, Carcinoma of colon, Nonpapillary renal cell carcinoma,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Potocki-Lupski syndrome
Uncertain significance
(Jan 15, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:17131277
GRCh38:
Chr17:17227963
FLCNR59CColorectal cancer, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome,
not provided, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Apr 12, 2023)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:17131442
GRCh38:
Chr17:17228128
FLCNI4VColorectal cancer, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome,
Familial spontaneous pneumothorax, Multiple fibrofolliculomas		Uncertain significance
(Feb 25, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:17119838
GRCh38:
Chr17:17216524
FLCNFamilial spontaneous pneumothorax, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Nonpapillary renal cell carcinoma, Colorectal cancer, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas, not specified, not provided
Benign/Likely benign
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:16757111-20219651
MYO15A, NT5M, PEMT, SNORD3A, SPECC1, SREBF1, TBC1D28, TNFRSF13B, TOP3A, TOM1L2, SMCR8, PLD6, PRPSAP2, TRIM16L, TVP23B, SLC5A10, ATPAF2, DRC3, ALKBH5, COPS3, B9D1, AKAP10, ALDH3A1, ALDH3A2, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, ULK2
Potocki-Lupski syndromePathogenic
(Jun 14, 2017)		no assertion criteria provided
56.
GRCh37:
Chr17:17131318
GRCh38:
Chr17:17228004
FLCNA45VMultiple fibrofolliculomas, Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax,
Potocki-Lupski syndrome, Colorectal cancer, Hereditary cancer-predisposing syndrome,
not provided, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Sep 6, 2022)		criteria provided, conflicting interpretations
57.
GRCh37:
Chr17:17119709
GRCh38:
Chr17:17216395
FLCNH429Y, H447Ynot provided, Nonpapillary renal cell carcinoma, Colorectal cancer,
Potocki-Lupski syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Multiple fibrofolliculomas, Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Nov 28, 2022)		criteria provided, conflicting interpretations
58.
GRCh37:
Chr17:17125887
GRCh38:
Chr17:17222573
FLCNN236S, N254SHereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma, Colorectal cancer,
Potocki-Lupski syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Mar 7, 2023)		criteria provided, conflicting interpretations
59.
GRCh37:
Chr17:17119709
GRCh38:
Chr17:17216395
FLCNH429D, H447DHereditary cancer-predisposing syndrome, not provided, Multiple fibrofolliculomas,
Nonpapillary renal cell carcinoma, Colorectal cancer, Potocki-Lupski syndrome,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax		Uncertain significance
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:17117072
GRCh38:
Chr17:17213758
FLCNN546S, N564Snot provided, Potocki-Lupski syndrome, Multiple fibrofolliculomas,
Colorectal cancer, Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas, not specified
Conflicting interpretations of pathogenicity
(Aug 15, 2023)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr17:17120475
GRCh38:
Chr17:17217161
FLCNR362C, R380CNonpapillary renal cell carcinoma, Multiple fibrofolliculomas, Colorectal cancer,
Potocki-Lupski syndrome, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome,
not specified, Multiple fibrofolliculomas, Familial spontaneous pneumothorax
Uncertain significance
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:17125810
GRCh38:
Chr17:17222496
FLCNMultiple fibrofolliculomas, Nonpapillary renal cell carcinoma, Colorectal cancer,
Potocki-Lupski syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr17:17125921
GRCh38:
Chr17:17222607
FLCNA225T, A243THereditary cancer-predisposing syndrome, Nonpapillary renal cell carcinoma, Colorectal cancer,
Potocki-Lupski syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Aug 3, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr17:17124855
GRCh38:
Chr17:17221541
FLCNHereditary cancer-predisposing syndrome, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
Multiple fibrofolliculomas, not provided		Likely benign
(Oct 31, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:17124889
GRCh38:
Chr17:17221575
FLCNP278R, P296RMultiple fibrofolliculomas, Colorectal cancer, Nonpapillary renal cell carcinoma,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Uncertain significance
(Mar 6, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr17:17125960
GRCh38:
Chr17:17222646
FLCNQ212K, Q230KHereditary cancer-predisposing syndrome, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
not provided, Multiple fibrofolliculomas		Uncertain significance
(Aug 11, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:17127250
GRCh38:
Chr17:17223936
FLCNG202S, G220SMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Oct 28, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr17:17127356
GRCh38:
Chr17:17224042
FLCNF166L, F184LMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
Hereditary cancer-predisposing syndrome, not provided		Conflicting interpretations of pathogenicity
(May 11, 2023)		criteria provided, conflicting interpretations
69.
GRCh37:
Chr17:17127403
GRCh38:
Chr17:17224089
FLCNV151M, V169Mnot provided, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Multiple fibrofolliculomas, Carcinoma of colon, Familial spontaneous pneumothorax,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas		Uncertain significance
(Sep 23, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:17129484
GRCh38:
Chr17:17226170
FLCNMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:17118289
GRCh38:
Chr17:17214975
FLCNMultiple fibrofolliculomas, Colorectal cancer, Nonpapillary renal cell carcinoma,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, not specified,
Multiple fibrofolliculomas		Benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:17118491
GRCh38:
Chr17:17215177
FLCNMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome
Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:17118558
GRCh38:
Chr17:17215244
FLCNQ458R, Q476RMultiple fibrofolliculomas, Colorectal cancer, Nonpapillary renal cell carcinoma,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas, not provided		Conflicting interpretations of pathogenicity
(Jul 31, 2023)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr17:17119801
GRCh38:
Chr17:17216487
FLCNG398A, G416AMultiple fibrofolliculomas, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
Hereditary cancer-predisposing syndrome		Conflicting interpretations of pathogenicity
(Jan 24, 2023)		criteria provided, conflicting interpretations
75.
GRCh37:
Chr17:17120472
GRCh38:
Chr17:17217158
FLCNM363L, M381Lnot provided, Colorectal cancer, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma,
Multiple fibrofolliculomas, Hereditary cancer-predisposing syndrome		Uncertain significance
(Sep 7, 2023)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:17122326
GRCh38:
Chr17:17219012
FLCNnot specified, Multiple fibrofolliculomas, Colorectal cancer,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Potocki-Lupski syndrome,
Multiple fibrofolliculomas		Benign/Likely benign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:17131402-17131403
GRCh38:
Chr17:17228088-17228089
FLCNR17fsMultiple fibrofolliculomas, not provided, Potocki-Lupski syndrome
Pathogenic
(May 28, 2019)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:17118568-17118574
GRCh38:
Chr17:17215254-17215260
FLCNG453fs, G471fsMultiple fibrofolliculomas, Potocki-Lupski syndrome, Colorectal cancer,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma,
Hereditary cancer-predisposing syndrome		Pathogenic/Likely pathogenic
(Jul 1, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:17117052
GRCh38:
Chr17:17213738
FLCNW553R, W571Rnot provided, Potocki-Lupski syndrome, Colorectal cancer,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas		Pathogenic/Likely pathogenic
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr17:17118605
GRCh38:
Chr17:17215291
FLCNnot provided, Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Colorectal cancer,
Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma		Likely benign
(Oct 7, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:17131377
GRCh38:
Chr17:17228063
FLCNnot provided, Familial spontaneous pneumothorax, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas, Familial spontaneous pneumothorax, Colorectal cancer,
Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma, Multiple fibrofolliculomas
Benign/Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:17124930
GRCh38:
Chr17:17221616
FLCNMultiple fibrofolliculomas, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Colorectal cancer, Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma,
Hereditary cancer-predisposing syndrome		Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:17125806
GRCh38:
Chr17:17222492
FLCNMultiple fibrofolliculomas, Familial spontaneous pneumothorax, Colorectal cancer,
Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma, not specified,
Multiple fibrofolliculomas		Benign/Likely benign
(Jul 6, 2023)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:17127319
GRCh38:
Chr17:17224005
FLCNR179W, R197Wnot provided, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Nonpapillary renal cell carcinoma, Colorectal cancer, Potocki-Lupski syndrome,
Hereditary cancer-predisposing syndrome, not specified, Multiple fibrofolliculomas,
Potocki-Lupski syndrome		Conflicting interpretations of pathogenicity
(Aug 15, 2023)		criteria provided, conflicting interpretations
85.
GRCh37:
Chr17:17131339
GRCh38:
Chr17:17228025
FLCNS38IMultiple fibrofolliculomas, Hereditary cancer-predisposing syndrome, not provided,
Colorectal cancer, Multiple fibrofolliculomas, Potocki-Lupski syndrome,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, not specified
Conflicting interpretations of pathogenicity
(Nov 15, 2022)		criteria provided, conflicting interpretations
86.
GRCh37:
Chr17:17131201
GRCh38:
Chr17:17227887
FLCNColorectal cancer, Multiple fibrofolliculomas, Potocki-Lupski syndrome,
Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax, Multiple fibrofolliculomas,
Hereditary cancer-predisposing syndrome		Uncertain significance
(Jun 12, 2023)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:17125846
GRCh38:
Chr17:17222532
FLCNL250M, L268MHereditary cancer-predisposing syndrome, not provided, Colorectal cancer,
Multiple fibrofolliculomas, Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma,
Familial spontaneous pneumothorax, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Apr 13, 2023)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr17:17119767
GRCh38:
Chr17:17216453
FLCNMultiple fibrofolliculomas, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma, Colorectal cancer,
not provided, Hereditary cancer-predisposing syndrome, not specified
Likely benign
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:17127318
GRCh38:
Chr17:17224004
FLCNR179Q, R197Qnot provided, Familial spontaneous pneumothorax, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Colorectal cancer, Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas
Uncertain significance
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:17118501
GRCh38:
Chr17:17215187
FLCNR477Q, R495QMultiple fibrofolliculomas, Spontaneous pneumothorax, Multiple fibrofolliculomas,
Carcinoma of colon, Nonpapillary renal cell carcinoma, Familial spontaneous pneumothorax,
Potocki-Lupski syndrome, Hereditary cancer-predisposing syndrome, not provided
Conflicting interpretations of pathogenicity
(May 10, 2023)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr17:17122331
GRCh38:
Chr17:17219017
FLCNFamilial spontaneous pneumothorax, Colorectal cancer, Potocki-Lupski syndrome,
Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma, Hereditary cancer-predisposing syndrome,
not provided, Multiple fibrofolliculomas		Pathogenic
(Aug 15, 2023)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:17118502
GRCh38:
Chr17:17215188
FLCNR477*, R495*Multiple fibrofolliculomas, Potocki-Lupski syndrome, Familial spontaneous pneumothorax,
Carcinoma of colon, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Hereditary cancer-predisposing syndrome, not specified, not provided
Pathogenic
(Apr 18, 2023)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:17125878
GRCh38:
Chr17:17222564
FLCNR239H, R257HHereditary cancer-predisposing syndrome, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma, Potocki-Lupski syndrome,
Colorectal cancer, not provided		Conflicting interpretations of pathogenicity
(Mar 27, 2023)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr17:17131370
GRCh38:
Chr17:17228056
FLCNP28Snot provided, Multiple fibrofolliculomas, Familial spontaneous pneumothorax,
Familial spontaneous pneumothorax, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Potocki-Lupski syndrome, Colorectal cancer, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Mar 7, 2023)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr17:17127240
GRCh38:
Chr17:17223926
FLCNL205P, L223PFamilial spontaneous pneumothorax, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Potocki-Lupski syndrome, Colorectal cancer, Hereditary cancer-predisposing syndrome,
Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Dec 1, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr17:17127404
GRCh38:
Chr17:17224090
FLCNFamilial spontaneous pneumothorax, Multiple fibrofolliculomas, Nonpapillary renal cell carcinoma,
Potocki-Lupski syndrome, Colorectal cancer, Multiple fibrofolliculomas,
not provided, Hereditary cancer-predisposing syndrome		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:17131263
GRCh38:
Chr17:17227949
FLCNA64fsFamilial spontaneous pneumothorax, Colorectal cancer, Multiple fibrofolliculomas,
Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma, not provided,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas		Pathogenic/Likely pathogenic
(Dec 13, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:17125814
GRCh38:
Chr17:17222500
FLCNMultiple fibrofolliculomas, not provided, Familial spontaneous pneumothorax,
Multiple fibrofolliculomas, Carcinoma of colon, Potocki-Lupski syndrome,
Nonpapillary renal cell carcinoma, Hereditary cancer-predisposing syndrome, not specified
Pathogenic/Likely pathogenic
(Jul 6, 2023)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr17:17118567
GRCh38:
Chr17:17215253
FLCNE455G, E473GFamilial spontaneous pneumothorax, Colorectal cancer, Multiple fibrofolliculomas,
Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma, not provided,
Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Feb 7, 2023)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr17:17117000
GRCh38:
Chr17:17213686
FLCNR570H, R588Hnot provided, Hereditary cancer-predisposing syndrome, Multiple fibrofolliculomas,
Familial spontaneous pneumothorax, Potocki-Lupski syndrome, Nonpapillary renal cell carcinoma,
Colorectal cancer, Multiple fibrofolliculomas		Conflicting interpretations of pathogenicity
(Sep 6, 2023)		criteria provided, conflicting interpretations
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