"GeneDx"[submitter] AND "FLCN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 152769	GRCh38/hg38 17p11.2(chr17:17150076-17286561)x3	COPS3, FLCN +15 more	Copy number gain	See cases	GUncertain significance
Select item 322048	NM_144997.7(FLCN):c.*557T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	Birt-Hogg-Dube syndrome +2 more	GBenign
Select item 322051	NM_144997.7(FLCN):c.*442T>C	FLCN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 322052	NM_144997.7(FLCN):c.*425G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 322053	NM_144997.7(FLCN):c.*393G>A	FLCN	Single nucleotide variant (3 prime UTR variant)	Birt-Hogg-Dube syndrome +2 more	GBenign/Likely benign
Select item 322055	NM_144997.7(FLCN):c.*356G>T	FLCN	Single nucleotide variant (3 prime UTR variant)	Birt-Hogg-Dube syndrome +2 more	GBenign
Select item 1209300	NM_144997.7(FLCN):c.*223C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 387053	NM_144997.7(FLCN):c.*17G>T	FLCN	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign/Likely benign
Select item 1196117	NM_144997.7(FLCN):c.*1C>T	FLCN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 229915	NM_144997.7(FLCN):c.1709G>A (p.Arg570His)	FLCN (R570H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 415623	NM_144997.7(FLCN):c.1704G>A (p.Thr568=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 1778180	NM_144997.7(FLCN):c.1693C>T (p.Leu565Phe)	FLCN (L583F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 184907	NM_144997.7(FLCN):c.1692C>T (p.His564=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 428647	NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	FLCN (W553R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GPathogenic/Likely pathogenic
Select item 485586	NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)	FLCN (N546S +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 184253	NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)	FLCN (D545E +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +7 more	GConflicting classifications of pathogenicity
Select item 697386	NM_144997.7(FLCN):c.1626C>T (p.Ser542=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 651413	NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs)	FLCN (L536fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2999824	NM_144997.7(FLCN):c.1595_1603del (p.Thr532_Leu535delinsMet)	FLCN	Deletion (inframe_indel)	Birt-Hogg-Dube syndrome +1 more	GUncertain significance
Select item 3341019	NM_144997.7(FLCN):c.1602G>T (p.Lys534Asn)	FLCN (K534N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265155	NM_144997.7(FLCN):c.1601del (p.Lys534fs)	FLCN (K534fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 579021	NM_144997.7(FLCN):c.1599G>C (p.Gln533His)	FLCN (Q533H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 372879	NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs)	FLCN (S526fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 96480	NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)	FLCN (Q533* +1 more)	Single nucleotide variant (nonsense)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 428639	NM_144997.7(FLCN):c.1584del (p.Glu530fs)	FLCN (E548fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 460603	NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)	FLCN (R527Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 253258	NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	FLCN (R527* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1353855	NM_144997.7(FLCN):c.1568A>G (p.Lys523Arg)	FLCN (K541R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 515265	NM_144997.7(FLCN):c.1557T>C (p.Phe519=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1044847	NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)	FLCN (K534R +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GUncertain significance
Select item 2663529	NM_144997.7(FLCN):c.1542A>G (p.Lys514=)	FLCN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 280238	NM_144997.7(FLCN):c.1540A>T (p.Lys514Ter)	FLCN (K514* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 241920	NM_144997.7(FLCN):c.1539-2A>G	FLCN	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 460602	NM_144997.7(FLCN):c.1539-6C>T	FLCN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 96479	NM_144997.7(FLCN):c.1539-16_1539-12del	FLCN	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1251494	NM_144997.7(FLCN):c.1539-294TCTT[3]	FLCN	Microsatellite (intron variant)	not provided	GBenign
Select item 1208487	NM_144997.7(FLCN):c.1538+281_1538+284del	FLCN	Deletion (intron variant)	not provided	GLikely benign
Select item 677822	NM_144997.7(FLCN):c.1538+235G>A	FLCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290611	NM_144997.7(FLCN):c.1538+131A>C	FLCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292853	NM_144997.7(FLCN):c.1538+121C>T	FLCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 167073	NM_144997.7(FLCN):c.1538+14T>G	FLCN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 253256	NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)	FLCN (E510del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 96477	NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	FLCN (K508del +1 more)	Deletion (inframe_deletion)	Birt-Hogg-Dube syndrome +3 more	GPathogenic/Likely pathogenic
Select item 41856	NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg)	FLCN (K508R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
Select item 409376	NM_144997.7(FLCN):c.1513G>A (p.Val505Ile)	FLCN (V505I +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 514888	NM_144997.7(FLCN):c.1509C>T (p.Cys503=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +3 more	GLikely benign
Select item 280915	NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter)	FLCN (Q502* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2574778	NM_144997.7(FLCN):c.1501G>T (p.Asp501Tyr)	FLCN (D501Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514752	NM_144997.7(FLCN):c.1494T>C (p.Asp498=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1320874	NM_144997.7(FLCN):c.1479G>C (p.Gln493His)	FLCN (Q493H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 998340	NM_144997.7(FLCN):c.1465G>A (p.Ala489Thr)	FLCN (A489T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +3 more	GUncertain significance
Select item 241919	NM_144997.7(FLCN):c.1464G>A (p.Ala488=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 409392	NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)	FLCN (A488V +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
Select item 529994	NM_144997.7(FLCN):c.1451A>G (p.Asn484Ser)	FLCN (N484S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 96476	NM_144997.7(FLCN):c.1433-2A>G	FLCN	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1590756	NM_144997.7(FLCN):c.1433-20_1433-10del	FLCN	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 253253	NM_144997.7(FLCN):c.1433-38A>G	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +2 more	GBenign
Select item 253252	NM_144997.7(FLCN):c.1432+1G>A	FLCN	Single nucleotide variant (splice donor variant)	Birt-Hogg-Dube syndrome +3 more	GPathogenic/Likely pathogenic
Select item 322061	NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)	FLCN (R477Q +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 253251	NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	FLCN (R477* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 409388	NM_144997.7(FLCN):c.1418T>C (p.Val473Ala)	FLCN (V473A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 529977	NM_144997.7(FLCN):c.1415C>T (p.Pro472Leu)	FLCN (P472L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 241918	NM_144997.7(FLCN):c.1414C>G (p.Pro472Ala)	FLCN (P472A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 1321119	NM_144997.7(FLCN):c.1397T>C (p.Val466Ala)	FLCN (V466A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1702578	NM_144997.7(FLCN):c.1391A>G (p.Glu464Gly)	FLCN (E464G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241917	NM_144997.7(FLCN):c.1389C>T (p.Tyr463=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 3367	NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)	FLCN (Y463* +1 more)	Single nucleotide variant (nonsense)	Birt-Hogg-Dube syndrome 1 +4 more	GPathogenic
Select item 409380	NM_144997.7(FLCN):c.1387T>C (p.Tyr463His)	FLCN (Y463H +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1316402	NM_144997.7(FLCN):c.1385A>T (p.Lys462Met)	FLCN (K462M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 418213	NM_144997.7(FLCN):c.1379_1380del (p.Leu460fs)	FLCN (L460fs +1 more)	Microsatellite (frameshift variant)	Birt-Hogg-Dube syndrome +2 more	GPathogenic
Select item 460592	NM_144997.7(FLCN):c.1376C>T (p.Ser459Phe)	FLCN (S459F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +3 more	GUncertain significance
Select item 460591	NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)	FLCN (Q458R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 230541	NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)	FLCN (E455G +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 647717	NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)	FLCN (E455K +1 more)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 3343161	NM_144997.7(FLCN):c.1361G>T (p.Cys454Phe)	FLCN (C454F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 485624	NM_144997.7(FLCN):c.1358G>A (p.Gly453Glu)	FLCN (G453E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1416836	NM_144997.7(FLCN):c.1354G>A (p.Val452Met)	FLCN (V452M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 415613	NM_144997.7(FLCN):c.1350C>T (p.His450=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 653565	NM_144997.7(FLCN):c.1337G>A (p.Arg446His)	FLCN (R464H +1 more)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 658721	NM_144997.7(FLCN):c.1336C>T (p.Arg446Cys)	FLCN (R446C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 253249	NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)	FLCN (L467fs +1 more)	Duplication (frameshift variant)	Birt-Hogg-Dube syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 426738	NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs)	FLCN (A445fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3370	NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	FLCN (A445T +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 80367	NM_144997.7(FLCN):c.1332C>T (p.Ala444=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 415622	NM_144997.7(FLCN):c.1326C>T (p.His442=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 818884	NM_144997.7(FLCN):c.1315G>A (p.Val439Met)	FLCN (V457M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 460590	NM_144997.7(FLCN):c.1314C>T (p.Ile438=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 390075	NM_144997.7(FLCN):c.1301-18G>A	FLCN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1259688	NM_144997.7(FLCN):c.1301-59C>T	FLCN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387156	NM_144997.7(FLCN):c.1300+15G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +1 more	GLikely benign
Select item 390278	NM_144997.7(FLCN):c.1300+12C>T	FLCN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 419280	NM_144997.7(FLCN):c.1300+2T>G	FLCN	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 488811	NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter)	FLCN (E434* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 253247	NM_144997.7(FLCN):c.1286dup (p.His429fs)	FLCN (H429fs +1 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 241916	NM_144997.7(FLCN):c.1287C>T (p.His429=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +2 more	GLikely benign
Select item 418212	NM_144997.7(FLCN):c.1285_1286insG (p.His429fs)	FLCN (H429fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic

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