Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)	SNV Germline	Chr17:17215228	Pathogenic	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax FLCN-related disorder Birt-Hogg-Dube syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA196224	rs_137852929	13 SubmittersRCV000003534 RCV000166580 RCV000255586 RCV000781382 RCV003914800 RCV004786235
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	SNV Germline/somatic	Chr17:17215284	Conflicting classifications of pathogenicity	Carcinoma of colon Condition: not provided not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA159795	rs_41419545	26 SubmittersRCV000003537 RCV000034789 RCV000121112 RCV000163302 RCV000232087 RCV000336471
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)	SNV Germline	Chr17:17215000	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax FLCN-related disorder	Criteria Provided Conflicting Classifications	CA211431	rs_199643834	10 SubmittersRCV000034790 RCV000217068 RCV000573630 RCV001086352 RCV001121962 RCV003964837
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)	SNV Germline	Chr17:17226304	Conflicting classifications of pathogenicity	Condition: not provided not specified Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA159767	rs_141140415	14 SubmittersRCV000034791 RCV000121101 RCV000227232 RCV000332283 RCV000571977
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)	SNV Germline	Chr17:17219122	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax FLCN-related disorder	Criteria Provided Conflicting Classifications	CA159801	rs_143483053	15 SubmittersRCV000034797 RCV000121114 RCV000163434 RCV000226709 RCV000374324 RCV003952399
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	SNV Germline	Chr17:17214990	Pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA224159	rs_398124530	6 SubmittersRCV000082630 RCV000239664 RCV002399473 RCV002505009
NM_144997.7(FLCN):c.250-2A>G	SNV Germline	Chr17:17226324	Pathogenic/Likely pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Colorectal cancer FLCN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA224166	rs_398124533	12 SubmittersRCV000082633 RCV000239670 RCV000492149 RCV002490730 RCV003421978
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)	SNV Germline	Chr17:17228004	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome Carcinoma of colon FLCN-related disorder	Criteria Provided Conflicting Classifications	CA159761	rs_556510460	5 SubmittersRCV000121099 RCV000163762 RCV000543424 RCV000765335 RCV003952599
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)	SNV Germline	Chr17:17223948	Conflicting classifications of pathogenicity	not specified Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome Condition: not provided FLCN-related disorder	Criteria Provided Conflicting Classifications	CA159773	rs_200168437	11 SubmittersRCV000121103 RCV000228569 RCV000341795 RCV000569608 RCV001579897 RCV003935157
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)	SNV Germline	Chr17:17216397	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA159789	rs_199889477	7 SubmittersRCV000121110 RCV000568600 RCV000635530 RCV002483217 RCV004719701 RCV004786380
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)	SNV Germline	Chr17:17219032	Conflicting classifications of pathogenicity	not specified Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer	Criteria Provided Conflicting Classifications	CA159798	rs_190786280	9 SubmittersRCV000121113 RCV000535074 RCV000573718 RCV001562933 RCV002492423
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)	SNV Germline	Chr17:17224041	Pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Familial spontaneous pneumothorax Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA166645	rs_587782069	6 SubmittersRCV000130556 RCV000239654 RCV000255173 RCV002498642
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)	SNV Germline	Chr17:17222501	Pathogenic	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA211427	rs_368778627	7 SubmittersRCV000148502 RCV000635567 RCV002408655 RCV004567166
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)	SNV Germline	Chr17:17213760	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided not specified Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer	Criteria Provided Conflicting Classifications	CA188379	rs_760329266	8 SubmittersRCV000163471 RCV000231877 RCV001539507 RCV002267903 RCV002485010
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)	SNV Germline	Chr17:17216397	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA189480	rs_199889477	7 SubmittersRCV000163906 RCV000529447 RCV001544699 RCV002492651 RCV004567235
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)	SNV Germline	Chr17:17227999	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Colorectal cancer Potocki-Lupski syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA196505	rs_369115472	6 SubmittersRCV000166697 RCV002280106 RCV000465657 RCV002492672
NM_144997.7(FLCN):c.135G>A (p.Ala45=)	SNV Germline	Chr17:17228003	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Condition: not provided	Criteria Provided Conflicting Classifications	CA189519	rs_759930161	5 SubmittersRCV000163920 RCV000635597 RCV001122163 RCV001697059
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)	SNV Germline	Chr17:17213686	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Potocki-Lupski syndrome	Criteria Provided Conflicting Classifications	CA8415911	rs_201056799	4 SubmittersRCV000213870 RCV000701876 RCV001555199 RCV002494583
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)	SNV Germline	Chr17:17215253	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416016	rs_199786696	6 SubmittersRCV000223022 RCV000687348 RCV002485418 RCV003128597 RCV004786575
NM_144997.7(FLCN):c.779+1G>T	SNV Germline	Chr17:17222500	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided not specified Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Carcinoma of colon Birt-Hogg-Dube syndrome Potocki-Lupski syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8416321	rs_758175953	12 SubmittersRCV000218992 RCV000239675 RCV000255322 RCV000506237 RCV000762981
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)	SNV Germline	Chr17:17223926	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Colorectal cancer Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Condition: not provided	Criteria Provided Conflicting Classifications	CA10583456	rs_878855219	4 SubmittersRCV000232477 RCV001024947 RCV002487093 RCV004725120
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)	SNV Germline	Chr17:17223988	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax not specified	Criteria Provided Conflicting Classifications	CA8416384	rs_143525924	8 SubmittersRCV000234368 RCV000523373 RCV001024230 RCV001125810 RCV002465599
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)	SNV Germline	Chr17:17228056	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Colorectal cancer Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Condition: not provided	Criteria Provided Conflicting Classifications	CA8416522	rs_749758787	6 SubmittersRCV000229497 RCV000380278 RCV001027381 RCV002500821 RCV003151763
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	SNV Germline	Chr17:17215188	Pathogenic	Birt-Hogg-Dube syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome Carcinoma of colon Familial spontaneous pneumothorax Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA10586252	rs_879255678	11 SubmittersRCV000239684 RCV000256142 RCV000507127 RCV000567617 RCV000762980
NM_144997.7(FLCN):c.716G>A (p.Arg239His)	SNV Germline	Chr17:17222564	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Potocki-Lupski syndrome Colorectal cancer Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416333	rs_753948488	5 SubmittersRCV000239701 RCV000561577 RCV001527887 RCV002487112
NM_144997.7(FLCN):c.1062+2T>G	SNV Germline	Chr17:17219017	Pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Multiple Submitters No Conflicts	CA10588640	rs_886039370	6 SubmittersRCV000254745 RCV000812531 RCV001009818 RCV002479990
NM_144997.7(FLCN):c.*178A>G	SNV Germline	Chr17:17213477	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA10639022	rs_145430714	1 SubmittersRCV000309138 RCV000363873
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)	SNV Germline	Chr17:17215187	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Spontaneous pneumothorax Condition: not provided Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Carcinoma of colon Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416005	rs_748878853	8 SubmittersRCV000266163 RCV000379332 RCV000414396 RCV000765332 RCV001011546
NM_144997.7(FLCN):c.1281C>G (p.Pro427=)	SNV Germline	Chr17:17216399	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8416077	rs_372207262	7 SubmittersRCV000311957 RCV000348103 RCV000565832 RCV000858725 RCV002465616
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)	SNV Germline	Chr17:17219104	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Condition: not provided Hereditary cancer-predisposing syndrome FLCN-related disorder	Criteria Provided Conflicting Classifications	CA8416182	rs_138031155	7 SubmittersRCV000264762 RCV000319945 RCV000589923 RCV000567800 RCV004745338
NM_144997.7(FLCN):c.791C>T (p.Ala264Val)	SNV Germline	Chr17:17221617	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Condition: not provided Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416291	rs_372304384	7 SubmittersRCV000293686 RCV000348649 RCV001556414 RCV002418183 RCV004786666
NM_144997.7(FLCN):c.1300+14C>T	SNV Germline	Chr17:17216366	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome not specified	Criteria Provided Conflicting Classifications	CA8416065	rs_200823760	3 SubmittersRCV000350576 RCV000390580 RCV004596161
NM_144997.7(FLCN):c.-45A>G	SNV Germline	Chr17:17231814	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax not specified Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications	CA10644975	rs_571154058	2 SubmittersRCV000337565 RCV000438625 RCV000403643
NM_144997.7(FLCN):c.*695C>T	SNV Germline	Chr17:17212960	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10648691	rs_775700421	2 SubmittersRCV000343208 RCV000398097 RCV003418015
NM_144997.7(FLCN):c.*528G>A	SNV Germline	Chr17:17213127	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA10648693	rs_184006653	1 SubmittersRCV000259949 RCV000354725
NM_144997.7(FLCN):c.*379G>A	SNV Germline	Chr17:17213276	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA10648695	rs_117436649	1 SubmittersRCV000286267 RCV000341273
NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu)	SNV Germline	Chr17:17215189	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416006	rs_756944795	4 SubmittersRCV000321128 RCV000375788 RCV004786665 RCV000571724
NM_144997.7(FLCN):c.250-7T>C	SNV Germline	Chr17:17226329	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416465	rs_748857550	2 SubmittersRCV000274117 RCV000329198
NM_144997.7(FLCN):c.249+13G>C	SNV Germline	Chr17:17227876	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome not specified Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416482	rs_200103733	3 SubmittersRCV000289424 RCV000612124 RCV000383825
NM_144997.7(FLCN):c.-29G>A	SNV Germline	Chr17:17231798	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome not specified	Criteria Provided Conflicting Classifications	CA10649611	rs_151144873	2 SubmittersRCV000282578 RCV000402810 RCV000440382
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)	SNV Germline	Chr17:17215060	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Condition: not provided not specified FLCN-related disorder	Criteria Provided Conflicting Classifications	CA8415959	rs_200660337	7 SubmittersRCV000475144 RCV000571344 RCV001124732 RCV001591093 RCV002268080 RCV003912806
NM_144997.7(FLCN):c.748C>A (p.Leu250Met)	SNV Germline	Chr17:17222532	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA16615122	rs_898441209	5 SubmittersRCV000462755 RCV000492271 RCV002481438 RCV002480409
NM_144997.7(FLCN):c.249+2C>T	SNV Germline	Chr17:17227887	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Colorectal cancer Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA16615123	rs_939223011	6 SubmittersRCV000456150 RCV002489055 RCV003298490 RCV003477973 RCV004022725
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)	SNV Germline	Chr17:17228025	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified FLCN-related disorder Potocki-Lupski syndrome Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416514	rs_139418842	8 SubmittersRCV000469363 RCV001017432 RCV001558005 RCV001844165 RCV003409629 RCV002489056 RCV004787729
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)	SNV Germline	Chr17:17224005	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Condition: not provided Colorectal cancer Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax not specified	Criteria Provided Conflicting Classifications	CA8416388	rs_774358971	7 SubmittersRCV000467918 RCV001023971 RCV001198849 RCV001568283 RCV002480410 RCV003321612
NM_144997.7(FLCN):c.205G>A (p.Val69Ile)	SNV Germline	Chr17:17227933	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 FLCN-related disorder	Criteria Provided Conflicting Classifications	CA8416497	rs_567617762	6 SubmittersRCV000574441 RCV000611358 RCV000461839 RCV001336976 RCV004787769 RCV004745413
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	SNV Germline	Chr17:17213738	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Colorectal cancer Familial spontaneous pneumothorax Potocki-Lupski syndrome Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA398529920	rs_1131690833	4 SubmittersRCV000492176 RCV000690635 RCV001584204 RCV002496889
NM_144997.7(FLCN):c.1432+8C>T	SNV Germline	Chr17:17215177	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA8416000	rs_201898226	3 SubmittersRCV000535879 RCV002506320 RCV003478136
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)	SNV Germline	Chr17:17223936	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416374	rs_774491699	4 SubmittersRCV000545339 RCV000565519 RCV002476128 RCV004568773
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)	SNV Germline	Chr17:17213815	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8415934	rs_777826268	7 SubmittersRCV000560552 RCV000565191 RCV001121961 RCV002527743 RCV004787856
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)	SNV Germline	Chr17:17215244	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8416015	rs_150439088	6 SubmittersRCV000558097 RCV001011243 RCV001775852 RCV002476127
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)	SNV Germline	Chr17:17216487	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8416100	rs_766801011	6 SubmittersRCV000530248 RCV002350218 RCV002497102 RCV004787855 RCV005000150
NM_144997.7(FLCN):c.708C>T (p.Asn236=)	SNV Germline	Chr17:17222572	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome not specified Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416334	rs_750394475	4 SubmittersRCV000548041 RCV000599827 RCV001026020 RCV001124827
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)	SNV Germline	Chr17:17224042	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer	Criteria Provided Conflicting Classifications	CA288317129	rs_1040675580	5 SubmittersRCV000553117 RCV001023371 RCV001574889 RCV002483392
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)	SNV Germline	Chr17:17222646	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416347	rs_558699420	7 SubmittersRCV000527374 RCV001025165 RCV002490994 RCV003126810 RCV004787857
NM_144997.7(FLCN):c.451G>A (p.Val151Met)	SNV Germline	Chr17:17224089	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Carcinoma of colon Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416395	rs_147164515	7 SubmittersRCV000532463 RCV000658774 RCV000765334 RCV001022629
NM_144997.7(FLCN):c.396+6C>T	SNV Germline	Chr17:17226170	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416444	rs_747922795	3 SubmittersRCV000538911 RCV002483391 RCV004023834
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)	SNV Germline	Chr17:17222607	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416341	rs_769250170	3 SubmittersRCV000560997 RCV001059272 RCV002491135
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)	SNV Germline	Chr17:17228004	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Potocki-Lupski syndrome	Criteria Provided Conflicting Classifications	CA8416512	rs_556510460	8 SubmittersRCV000564102 RCV001171925 RCV001246934 RCV004791597 RCV002483538
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)	SNV Germline	Chr17:17213758	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome not specified Condition: not provided Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8415923	rs_775149348	6 SubmittersRCV000570961 RCV000635566 RCV002268200 RCV002461370 RCV002483537
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)	SNV Germline	Chr17:17216395	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416073	rs_375082054	4 SubmittersRCV000567009 RCV000812782 RCV001755958 RCV002497214
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)	SNV Germline	Chr17:17222573	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA398533958	rs_1194767470	4 SubmittersRCV000570714 RCV000692706 RCV002491136 RCV004569267
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr17:17217161	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Colorectal cancer not specified FLCN-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8416141	rs_557336321	9 SubmittersRCV000564803 RCV000691604 RCV001127833 RCV002483536 RCV003321681 RCV003409849 RCV003478283
NM_144997.7(FLCN):c.779+5C>T	SNV Germline	Chr17:17222496	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Colorectal cancer	Criteria Provided Conflicting Classifications	CA8416320	rs_745645385	4 SubmittersRCV000561400 RCV000635571 RCV002506383
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)	SNV Germline	Chr17:17227963	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Colorectal cancer Condition: not provided FLCN-related disorder Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416508	rs_778275358	7 SubmittersRCV000635534 RCV001012999 RCV002499066 RCV003223660 RCV004745521 RCV004788052
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)	SNV Germline	Chr17:17219129	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Colorectal cancer Condition: not provided Birt-Hogg-Dube syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416189	rs_756787389	5 SubmittersRCV000635565 RCV002499067 RCV003238793 RCV004788054 RCV001019466
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)	SNV Germline	Chr17:17228052	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Colorectal cancer Birt-Hogg-Dube syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_150051278	5 SubmittersRCV000687044 RCV002485606 RCV004788117 RCV002369833 RCV001556472
NM_144997.7(FLCN):c.1432+2T>C	SNV Germline	Chr17:17215183	Pathogenic/Likely pathogenic	Familial spontaneous pneumothorax Condition: not provided Birt-Hogg-Dube syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1567807517	3 SubmittersRCV000781383 RCV004792459 RCV003500601
NM_144997.7(FLCN):c.1559A>G (p.Lys520Arg)	SNV Germline	Chr17:17213836	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_142288285	5 SubmittersRCV000808791 RCV001292936 RCV004789210 RCV002397657
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)	SNV Germline	Chr17:17215254	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided FLCN-related disorder Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications		rs_759637055	6 SubmittersRCV000802282 RCV002386430 RCV002259371 RCV003908098 RCV002477837 RCV004569584
NM_144997.7(FLCN):c.1337G>A (p.Arg446His)	SNV Germline	Chr17:17215280	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Colorectal cancer Birt-Hogg-Dube syndrome Potocki-Lupski syndrome	Criteria Provided Conflicting Classifications		rs_750104212	4 SubmittersRCV000809356 RCV001010835 RCV002307624 RCV002501096
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)	SNV Germline	Chr17:17221606	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Colorectal cancer FLCN-related disorder	Criteria Provided Conflicting Classifications		rs_762370059	7 SubmittersRCV000819183 RCV001027085 RCV001824384 RCV002268311 RCV002507435 RCV003892754
NM_144997.7(FLCN):c.1482C>T (p.Asn494=)	SNV Germline	Chr17:17215041	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications		rs_1597578831	3 SubmittersRCV001011814 RCV001124730 RCV001124731
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)	SNV Germline	Chr17:17222546	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications		rs_371401039	6 SubmittersRCV001026310 RCV001247341 RCV001759715 RCV002481835 RCV004570066
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)	SNV Germline	Chr17:17223978	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Colorectal cancer Ovarian cancer	Criteria Provided Conflicting Classifications		rs_1407566775	4 SubmittersRCV001056721 RCV002348418 RCV002505612 RCV003153913
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)	SNV Germline	Chr17:17227959	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Condition: not provided FLCN-related disorder	Criteria Provided Conflicting Classifications		rs_779900587	5 SubmittersRCV001048408 RCV002409416 RCV002481942 RCV003442168 RCV003393808
NM_144997.7(FLCN):c.1300+4C>T	SNV Germline	Chr17:17216376	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Colorectal cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1207963576	3 SubmittersRCV001063632 RCV002479376 RCV004030499
NM_144997.7(FLCN):c.*4G>A	SNV Germline	Chr17:17213651	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_770795599	2 SubmittersRCV001121959 RCV001121960 RCV003478701
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)	SNV Germline	Chr17:17213686	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications		rs_201056799	4 SubmittersRCV001347686 RCV002404819 RCV002493791 RCV004570844
NM_144997.7(FLCN):c.871+132G>T	SNV Germline	Chr17:17221405	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications			3 SubmittersRCV002290049 RCV003355848 RCV003471316

NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)

SNV
Germline

Chr17:17215228

Pathogenic

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial spontaneous pneumothorax
FLCN-related disorder
Birt-Hogg-Dube syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA196224

rs_137852929

13 SubmittersRCV000003534 RCV000166580 RCV000255586 RCV000781382 RCV003914800 RCV004786235

NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)

SNV
Germline/somatic

Chr17:17215284

Conflicting classifications of pathogenicity

Carcinoma of colon
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA159795

rs_41419545

26 SubmittersRCV000003537 RCV000034789 RCV000121112 RCV000163302 RCV000232087 RCV000336471

NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)

SNV
Germline

Chr17:17215000

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA211431

rs_199643834

10 SubmittersRCV000034790 RCV000217068 RCV000573630 RCV001086352 RCV001121962 RCV003964837

NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)

SNV
Germline

Chr17:17226304

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA159767

rs_141140415

14 SubmittersRCV000034791 RCV000121101 RCV000227232 RCV000332283 RCV000571977

NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)

SNV
Germline

Chr17:17219122

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA159801

rs_143483053

15 SubmittersRCV000034797 RCV000121114 RCV000163434 RCV000226709 RCV000374324 RCV003952399

NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)

SNV
Germline

Chr17:17214990

Pathogenic

Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA224159

rs_398124530

6 SubmittersRCV000082630 RCV000239664 RCV002399473 RCV002505009

NM_144997.7(FLCN):c.250-2A>G

SNV
Germline

Chr17:17226324

Pathogenic/Likely pathogenic

Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
FLCN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA224166

rs_398124533

12 SubmittersRCV000082633 RCV000239670 RCV000492149 RCV002490730 RCV003421978

NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)

SNV
Germline

Chr17:17228004

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Carcinoma of colon
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA159761

rs_556510460

5 SubmittersRCV000121099 RCV000163762 RCV000543424 RCV000765335 RCV003952599

NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)

SNV
Germline

Chr17:17223948

Conflicting classifications of pathogenicity

not specified
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome
Condition: not provided
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA159773

rs_200168437

11 SubmittersRCV000121103 RCV000228569 RCV000341795 RCV000569608 RCV001579897 RCV003935157

NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)

SNV
Germline

Chr17:17216397

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA159789

rs_199889477

7 SubmittersRCV000121110 RCV000568600 RCV000635530 RCV002483217 RCV004719701 RCV004786380

NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)

SNV
Germline

Chr17:17219032

Conflicting classifications of pathogenicity

not specified
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA159798

rs_190786280

9 SubmittersRCV000121113 RCV000535074 RCV000573718 RCV001562933 RCV002492423

NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)

SNV
Germline

Chr17:17224041

Pathogenic

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA166645

rs_587782069

6 SubmittersRCV000130556 RCV000239654 RCV000255173 RCV002498642

NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)

SNV
Germline

Chr17:17222501

Pathogenic

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA211427

rs_368778627

7 SubmittersRCV000148502 RCV000635567 RCV002408655 RCV004567166

NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)

SNV
Germline

Chr17:17213760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
not specified
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA188379

rs_760329266

8 SubmittersRCV000163471 RCV000231877 RCV001539507 RCV002267903 RCV002485010

NM_144997.7(FLCN):c.1283C>A (p.Pro428His)

SNV
Germline

Chr17:17216397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA189480

rs_199889477

7 SubmittersRCV000163906 RCV000529447 RCV001544699 RCV002492651 RCV004567235

NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)

SNV
Germline

Chr17:17227999

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Colorectal cancer
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA196505

rs_369115472

6 SubmittersRCV000166697 RCV002280106 RCV000465657 RCV002492672

NM_144997.7(FLCN):c.135G>A (p.Ala45=)

SNV
Germline

Chr17:17228003

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Condition: not provided

Criteria Provided
Conflicting Classifications

CA189519

rs_759930161

5 SubmittersRCV000163920 RCV000635597 RCV001122163 RCV001697059

NM_144997.7(FLCN):c.1709G>A (p.Arg570His)

SNV
Germline

Chr17:17213686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome

Criteria Provided
Conflicting Classifications

CA8415911

rs_201056799

4 SubmittersRCV000213870 RCV000701876 RCV001555199 RCV002494583

NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)

SNV
Germline

Chr17:17215253

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416016

rs_199786696

6 SubmittersRCV000223022 RCV000687348 RCV002485418 RCV003128597 RCV004786575

NM_144997.7(FLCN):c.779+1G>T

SNV
Germline

Chr17:17222500

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
not specified
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Carcinoma of colon
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8416321

rs_758175953

12 SubmittersRCV000218992 RCV000239675 RCV000255322 RCV000506237 RCV000762981

NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)

SNV
Germline

Chr17:17223926

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583456

rs_878855219

4 SubmittersRCV000232477 RCV001024947 RCV002487093 RCV004725120

NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)

SNV
Germline

Chr17:17223988

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
not specified

Criteria Provided
Conflicting Classifications

CA8416384

rs_143525924

8 SubmittersRCV000234368 RCV000523373 RCV001024230 RCV001125810 RCV002465599

NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)

SNV
Germline

Chr17:17228056

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8416522

rs_749758787

6 SubmittersRCV000229497 RCV000380278 RCV001027381 RCV002500821 RCV003151763

NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr17:17215188

Pathogenic

Birt-Hogg-Dube syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10586252

rs_879255678

11 SubmittersRCV000239684 RCV000256142 RCV000507127 RCV000567617 RCV000762980

NM_144997.7(FLCN):c.716G>A (p.Arg239His)

SNV
Germline

Chr17:17222564

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416333

rs_753948488

5 SubmittersRCV000239701 RCV000561577 RCV001527887 RCV002487112

NM_144997.7(FLCN):c.1062+2T>G

SNV
Germline

Chr17:17219017

Pathogenic

Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Multiple Submitters
No Conflicts

CA10588640

rs_886039370

6 SubmittersRCV000254745 RCV000812531 RCV001009818 RCV002479990

NM_144997.7(FLCN):c.*178A>G

SNV
Germline

Chr17:17213477

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA10639022

rs_145430714

1 SubmittersRCV000309138 RCV000363873

NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)

SNV
Germline

Chr17:17215187

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Spontaneous pneumothorax
Condition: not provided
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Carcinoma of colon
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8416005

rs_748878853

8 SubmittersRCV000266163 RCV000379332 RCV000414396 RCV000765332 RCV001011546

NM_144997.7(FLCN):c.1281C>G (p.Pro427=)

SNV
Germline

Chr17:17216399

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8416077

rs_372207262

7 SubmittersRCV000311957 RCV000348103 RCV000565832 RCV000858725 RCV002465616

NM_144997.7(FLCN):c.977C>T (p.Pro326Leu)

SNV
Germline

Chr17:17219104

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Condition: not provided
Hereditary cancer-predisposing syndrome
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA8416182

rs_138031155

7 SubmittersRCV000264762 RCV000319945 RCV000589923 RCV000567800 RCV004745338

NM_144997.7(FLCN):c.791C>T (p.Ala264Val)

SNV
Germline

Chr17:17221617

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416291

rs_372304384

7 SubmittersRCV000293686 RCV000348649 RCV001556414 RCV002418183 RCV004786666

NM_144997.7(FLCN):c.1300+14C>T

SNV
Germline

Chr17:17216366

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8416065

rs_200823760

3 SubmittersRCV000350576 RCV000390580 RCV004596161

NM_144997.7(FLCN):c.-45A>G

SNV
Germline

Chr17:17231814

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
not specified
Birt-Hogg-Dube syndrome

Criteria Provided
Conflicting Classifications

CA10644975

rs_571154058

2 SubmittersRCV000337565 RCV000438625 RCV000403643

NM_144997.7(FLCN):c.*695C>T

SNV
Germline

Chr17:17212960

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10648691

rs_775700421

2 SubmittersRCV000343208 RCV000398097 RCV003418015

NM_144997.7(FLCN):c.*528G>A

SNV
Germline

Chr17:17213127

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA10648693

rs_184006653

1 SubmittersRCV000259949 RCV000354725

NM_144997.7(FLCN):c.*379G>A

SNV
Germline

Chr17:17213276

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA10648695

rs_117436649

1 SubmittersRCV000286267 RCV000341273

NM_144997.7(FLCN):c.1428C>G (p.Asp476Glu)

SNV
Germline

Chr17:17215189

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8416006

rs_756944795

4 SubmittersRCV000321128 RCV000375788 RCV004786665 RCV000571724

NM_144997.7(FLCN):c.250-7T>C

SNV
Germline

Chr17:17226329

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416465

rs_748857550

2 SubmittersRCV000274117 RCV000329198

NM_144997.7(FLCN):c.249+13G>C

SNV
Germline

Chr17:17227876

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
not specified
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416482

rs_200103733

3 SubmittersRCV000289424 RCV000612124 RCV000383825

NM_144997.7(FLCN):c.-29G>A

SNV
Germline

Chr17:17231798

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10649611

rs_151144873

2 SubmittersRCV000282578 RCV000402810 RCV000440382

NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)

SNV
Germline

Chr17:17215060

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Condition: not provided
not specified
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA8415959

rs_200660337

7 SubmittersRCV000475144 RCV000571344 RCV001124732 RCV001591093 RCV002268080 RCV003912806

NM_144997.7(FLCN):c.748C>A (p.Leu250Met)

SNV
Germline

Chr17:17222532

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615122

rs_898441209

5 SubmittersRCV000462755 RCV000492271 RCV002481438 RCV002480409

NM_144997.7(FLCN):c.249+2C>T

SNV
Germline

Chr17:17227887

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Colorectal cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA16615123

rs_939223011

6 SubmittersRCV000456150 RCV002489055 RCV003298490 RCV003477973 RCV004022725

NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)

SNV
Germline

Chr17:17228025

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
FLCN-related disorder
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416514

rs_139418842

8 SubmittersRCV000469363 RCV001017432 RCV001558005 RCV001844165 RCV003409629 RCV002489056 RCV004787729

NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)

SNV
Germline

Chr17:17224005

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Condition: not provided
Colorectal cancer
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
not specified

Criteria Provided
Conflicting Classifications

CA8416388

rs_774358971

7 SubmittersRCV000467918 RCV001023971 RCV001198849 RCV001568283 RCV002480410 RCV003321612

NM_144997.7(FLCN):c.205G>A (p.Val69Ile)

SNV
Germline

Chr17:17227933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA8416497

rs_567617762

6 SubmittersRCV000574441 RCV000611358 RCV000461839 RCV001336976 RCV004787769 RCV004745413

NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)

SNV
Germline

Chr17:17213738

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Colorectal cancer
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA398529920

rs_1131690833

4 SubmittersRCV000492176 RCV000690635 RCV001584204 RCV002496889

NM_144997.7(FLCN):c.1432+8C>T

SNV
Germline

Chr17:17215177

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8416000

rs_201898226

3 SubmittersRCV000535879 RCV002506320 RCV003478136

NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)

SNV
Germline

Chr17:17223936

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416374

rs_774491699

4 SubmittersRCV000545339 RCV000565519 RCV002476128 RCV004568773

NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)

SNV
Germline

Chr17:17213815

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8415934

rs_777826268

7 SubmittersRCV000560552 RCV000565191 RCV001121961 RCV002527743 RCV004787856

NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)

SNV
Germline

Chr17:17215244

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA8416015

rs_150439088

6 SubmittersRCV000558097 RCV001011243 RCV001775852 RCV002476127

NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)

SNV
Germline

Chr17:17216487

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8416100

rs_766801011

6 SubmittersRCV000530248 RCV002350218 RCV002497102 RCV004787855 RCV005000150

NM_144997.7(FLCN):c.708C>T (p.Asn236=)

SNV
Germline

Chr17:17222572

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416334

rs_750394475

4 SubmittersRCV000548041 RCV000599827 RCV001026020 RCV001124827

NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)

SNV
Germline

Chr17:17224042

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA288317129

rs_1040675580

5 SubmittersRCV000553117 RCV001023371 RCV001574889 RCV002483392

NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)

SNV
Germline

Chr17:17222646

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416347

rs_558699420

7 SubmittersRCV000527374 RCV001025165 RCV002490994 RCV003126810 RCV004787857

NM_144997.7(FLCN):c.451G>A (p.Val151Met)

SNV
Germline

Chr17:17224089

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Carcinoma of colon
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8416395

rs_147164515

7 SubmittersRCV000532463 RCV000658774 RCV000765334 RCV001022629

NM_144997.7(FLCN):c.396+6C>T

SNV
Germline

Chr17:17226170

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416444

rs_747922795

3 SubmittersRCV000538911 RCV002483391 RCV004023834

NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)

SNV
Germline

Chr17:17222607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416341

rs_769250170

3 SubmittersRCV000560997 RCV001059272 RCV002491135

NM_144997.7(FLCN):c.134C>T (p.Ala45Val)

SNV
Germline

Chr17:17228004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome

Criteria Provided
Conflicting Classifications

CA8416512

rs_556510460

8 SubmittersRCV000564102 RCV001171925 RCV001246934 RCV004791597 RCV002483538

NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)

SNV
Germline

Chr17:17213758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
not specified
Condition: not provided
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8415923

rs_775149348

6 SubmittersRCV000570961 RCV000635566 RCV002268200 RCV002461370 RCV002483537

NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)

SNV
Germline

Chr17:17216395

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416073

rs_375082054

4 SubmittersRCV000567009 RCV000812782 RCV001755958 RCV002497214

NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)

SNV
Germline

Chr17:17222573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA398533958

rs_1194767470

4 SubmittersRCV000570714 RCV000692706 RCV002491136 RCV004569267

NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)

SNV
Germline

Chr17:17217161

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer
not specified
FLCN-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8416141

rs_557336321

9 SubmittersRCV000564803 RCV000691604 RCV001127833 RCV002483536 RCV003321681 RCV003409849 RCV003478283

NM_144997.7(FLCN):c.779+5C>T

SNV
Germline

Chr17:17222496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA8416320

rs_745645385

4 SubmittersRCV000561400 RCV000635571 RCV002506383

NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)

SNV
Germline

Chr17:17227963

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided
FLCN-related disorder
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416508

rs_778275358

7 SubmittersRCV000635534 RCV001012999 RCV002499066 RCV003223660 RCV004745521 RCV004788052

NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)

SNV
Germline

Chr17:17219129

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided
Birt-Hogg-Dube syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8416189

rs_756787389

5 SubmittersRCV000635565 RCV002499067 RCV003238793 RCV004788054 RCV001019466

NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)

SNV
Germline

Chr17:17228052

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150051278

5 SubmittersRCV000687044 RCV002485606 RCV004788117 RCV002369833 RCV001556472

NM_144997.7(FLCN):c.1432+2T>C

SNV
Germline

Chr17:17215183

Pathogenic/Likely pathogenic

Familial spontaneous pneumothorax
Condition: not provided
Birt-Hogg-Dube syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567807517

3 SubmittersRCV000781383 RCV004792459 RCV003500601

NM_144997.7(FLCN):c.1559A>G (p.Lys520Arg)

SNV
Germline

Chr17:17213836

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_142288285

5 SubmittersRCV000808791 RCV001292936 RCV004789210 RCV002397657

NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)

SNV
Germline

Chr17:17215254

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
FLCN-related disorder
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

rs_759637055

6 SubmittersRCV000802282 RCV002386430 RCV002259371 RCV003908098 RCV002477837 RCV004569584

NM_144997.7(FLCN):c.1337G>A (p.Arg446His)

SNV
Germline

Chr17:17215280

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome

Criteria Provided
Conflicting Classifications

rs_750104212

4 SubmittersRCV000809356 RCV001010835 RCV002307624 RCV002501096

NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)

SNV
Germline

Chr17:17221606

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer
FLCN-related disorder

Criteria Provided
Conflicting Classifications

rs_762370059

7 SubmittersRCV000819183 RCV001027085 RCV001824384 RCV002268311 RCV002507435 RCV003892754

NM_144997.7(FLCN):c.1482C>T (p.Asn494=)

SNV
Germline

Chr17:17215041

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome

Criteria Provided
Conflicting Classifications

rs_1597578831

3 SubmittersRCV001011814 RCV001124730 RCV001124731

NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)

SNV
Germline

Chr17:17222546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

rs_371401039

6 SubmittersRCV001026310 RCV001247341 RCV001759715 RCV002481835 RCV004570066

NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)

SNV
Germline

Chr17:17223978

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_1407566775

4 SubmittersRCV001056721 RCV002348418 RCV002505612 RCV003153913

NM_144997.7(FLCN):c.179C>T (p.Ala60Val)

SNV
Germline

Chr17:17227959

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Condition: not provided
FLCN-related disorder

Criteria Provided
Conflicting Classifications

rs_779900587

5 SubmittersRCV001048408 RCV002409416 RCV002481942 RCV003442168 RCV003393808

NM_144997.7(FLCN):c.1300+4C>T

SNV
Germline

Chr17:17216376

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1207963576

3 SubmittersRCV001063632 RCV002479376 RCV004030499

NM_144997.7(FLCN):c.*4G>A

SNV
Germline

Chr17:17213651

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770795599

2 SubmittersRCV001121959 RCV001121960 RCV003478701

NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)

SNV
Germline

Chr17:17213686

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

rs_201056799

4 SubmittersRCV001347686 RCV002404819 RCV002493791 RCV004570844

NM_144997.7(FLCN):c.871+132G>T

SNV
Germline

Chr17:17221405

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002290049 RCV003355848 RCV003471316