List of variants in gene FLCN reported as pathogenic by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)	rs753009073	0.00001
NM_144997.7(FLCN):c.779+1G>T	rs758175953	0.00001
NM_144997.7(FLCN):c.1036_1043del (p.Phe346fs)	rs879255670
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)	rs879255672
NM_144997.7(FLCN):c.1124_1139del (p.Ile375fs)	rs879255673
NM_144997.7(FLCN):c.1252del (p.Leu418fs)	rs864622651
NM_144997.7(FLCN):c.1285del (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1286dup (p.His429fs)	rs879255675
NM_144997.7(FLCN):c.1300+1G>A	rs879255676
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)	rs879255677
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)	rs137852929
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)	rs137852929
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	rs879255678
NM_144997.7(FLCN):c.1432+1G>A	rs755959303
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs)	rs879255679
NM_144997.7(FLCN):c.1528del (p.Glu510fs)	rs879255680
NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter)	rs879255682
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	rs398124530
NM_144997.7(FLCN):c.235_238del (p.Ser79fs)	rs750146811
NM_144997.7(FLCN):c.250-1G>A	rs786202081
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_144997.7(FLCN):c.296del (p.Asp99fs)	rs398124534
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs)	rs398124535
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)	rs398124536
NM_144997.7(FLCN):c.3G>C (p.Met1Ile)	rs879255658
NM_144997.7(FLCN):c.453del (p.Phe152fs)	rs879255660
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)	rs587782069
NM_144997.7(FLCN):c.584del (p.Gly195fs)	rs878855217
NM_144997.7(FLCN):c.59del (p.Phe20fs)	rs876658390
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)	rs398124538
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)	rs879255661
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)	rs558699420
NM_144997.7(FLCN):c.735_738del (p.Ser246fs)	rs879255662
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter)	rs879255663
NM_144997.7(FLCN):c.851del (p.Val284fs)	rs879255666
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter)	rs879255667
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)	rs879255668
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)	rs398124541
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)	rs398124542
NM_144997.7(FLCN):c.927dup (p.Ala310fs)	rs879255669

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