ClinVar for MedGen (Select 444010) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1703554	GRCh37/hg19 17p11.2(chr17:17579860-18469185)	ALKBH5, ATPAF2 +16 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1703553	Single allele	ATPAF2, CCDC144A +17 more	Complex	Potocki-Lupski syndrome	GPathogenic
Select item 1676938	NM_144997.7(FLCN):c.251G>T (p.Gly84Val)	FLCN (G84V)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GUncertain significance
Select item 1604102	NM_144997.7(FLCN):c.871+13T>C	FLCN (V295A)	Single nucleotide variant (missense variant +1 more)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1596818	NM_144997.7(FLCN):c.1539-11G>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1577112	NM_144997.7(FLCN):c.780-13C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1576694	NM_144997.7(FLCN):c.1176+15T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GBenign/Likely benign
Select item 1519156	NM_144997.7(FLCN):c.202A>C (p.Ser68Arg)	FLCN (S68R)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 1503069	NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr)	FLCN (C215Y +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 1496182	NM_144997.7(FLCN):c.49C>T (p.Arg17Cys)	FLCN (R17C)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1138930	NM_144997.7(FLCN):c.645C>T (p.Cys215=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +6 more	GLikely benign
Select item 1127166	NM_144997.7(FLCN):c.1301-8T>C	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1087387	NM_144997.7(FLCN):c.619-8C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GLikely benign
Select item 1083440	NM_144997.7(FLCN):c.1068G>T (p.Leu356=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +6 more	GLikely benign
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1044847	NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg)	FLCN (K534R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1043559	NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)	FLCN (R588L +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1011594	NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe)	FLCN (S496F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 934313	NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg)	FLCN (K365R +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GUncertain significance
Select item 888616	NM_144997.7(FLCN):c.798C>T (p.Gly266=)	FLCN	Single nucleotide variant (synonymous variant)	Familial spontaneous pneumothorax +4 more	GUncertain significance
Select item 857867	NM_144997.7(FLCN):c.1300+4C>T	FLCN	Single nucleotide variant (intron variant)	Colorectal cancer +4 more	GConflicting classifications of pathogenicity
Select item 856221	NM_144997.7(FLCN):c.221C>T (p.Pro74Leu)	FLCN (P74L)	Single nucleotide variant (missense variant)	Colorectal cancer +5 more	GUncertain significance
Select item 853977	NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser)	FLCN (P451S +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +5 more	GUncertain significance
Select item 852166	NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)	FLCN (F188I +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer +6 more	GConflicting classifications of pathogenicity
Select item 845359	NM_144997.7(FLCN):c.179C>T (p.Ala60Val)	FLCN (A60V)	Single nucleotide variant (missense variant)	Colorectal cancer +7 more	GConflicting classifications of pathogenicity
Select item 841895	NM_144997.7(FLCN):c.79G>T (p.Ala27Ser)	FLCN (A27S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 835557	NM_144997.7(FLCN):c.986C>T (p.Ser329Phe)	FLCN (S329F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GUncertain significance
Select item 826983	NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)	FLCN (T263K +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GConflicting classifications of pathogenicity
Select item 826098	NM_144997.7(FLCN):c.598C>T (p.Leu200Phe)	FLCN (L218F +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 819964	NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln)	FLCN (R578Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
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 +5 more	GUncertain significance
Select item 707712	NM_144997.7(FLCN):c.1353T>C (p.Pro451=)	FLCN	Single nucleotide variant (synonymous variant)	Potocki-Lupski syndrome +5 more	GLikely benign
Select item 705986	NM_144997.7(FLCN):c.756G>A (p.Ala252=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GLikely benign
Select item 703204	NM_144997.7(FLCN):c.981A>G (p.Ala327=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 701279	NM_144997.7(FLCN):c.1380C>T (p.Leu460=)	FLCN	Single nucleotide variant (synonymous variant)	FLCN-related condition +6 more	GLikely benign
Select item 696606	NM_144997.7(FLCN):c.396+7C>T	FLCN	Single nucleotide variant (intron variant)	Nonpapillary renal cell carcinoma +6 more	GLikely benign
Select item 662886	NM_144997.7(FLCN):c.230A>C (p.Lys77Thr)	FLCN (K77T)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GUncertain significance
Select item 661706	NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)	FLCN (R286W +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +8 more	GConflicting classifications of pathogenicity
Select item 653717	NM_144997.7(FLCN):c.1715C>A (p.Pro572His)	FLCN (P572H +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +4 more	GUncertain significance
Select item 653565	NM_144997.7(FLCN):c.1337G>A (p.Arg446His)	FLCN (R464H +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +6 more	GConflicting classifications of pathogenicity
Select item 649357	NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe)	FLCN (L525F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 647717	NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)	FLCN (E455K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 581206	NM_144997.7(FLCN):c.380G>A (p.Arg127Gln)	FLCN (R127Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 572906	NM_144997.7(FLCN):c.581G>A (p.Arg194Gln)	FLCN (R194Q +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GUncertain significance
Select item 567066	NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)	FLCN (L29P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 530001	NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)	FLCN (E318K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 529987	NM_144997.7(FLCN):c.728C>T (p.Ser243Leu)	FLCN (S243L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 529984	NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1])	FLCN	Microsatellite (inframe_deletion)	Birt-Hogg-Dube syndrome +4 more	GUncertain significance
Select item 529982	NM_144997.7(FLCN):c.1309G>C (p.Val437Leu)	FLCN (V437L +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +4 more	GUncertain significance
Select item 529978	NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)	FLCN (R59C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 529975	NM_144997.7(FLCN):c.10A>G (p.Ile4Val)	FLCN (I4V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 512872	NM_144997.7(FLCN):c.1177-21G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 485613	NM_144997.7(FLCN):c.134C>T (p.Ala45Val)	FLCN (A45V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 485611	NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)	FLCN (H429Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 485602	NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)	FLCN (N236S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 485595	NM_144997.7(FLCN):c.1285C>G (p.His429Asp)	FLCN (H429D +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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 485585	NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)	FLCN (R362C +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +8 more	GUncertain significance
Select item 485582	NM_144997.7(FLCN):c.779+5C>T	FLCN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 485580	NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)	FLCN (A225T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GConflicting classifications of pathogenicity
Select item 460636	NM_144997.7(FLCN):c.867C>T (p.Leu289=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GLikely benign
Select item 460634	NM_144997.7(FLCN):c.833C>G (p.Pro278Arg)	FLCN (P278R +1 more)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +5 more	GUncertain significance
Select item 460625	NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)	FLCN (Q212K +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 460622	NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)	FLCN (G202S +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +5 more	GConflicting classifications of pathogenicity
Select item 460618	NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)	FLCN (F166L +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GConflicting classifications of pathogenicity
Select item 460616	NM_144997.7(FLCN):c.451G>A (p.Val151Met)	FLCN (V151M +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +6 more	GConflicting classifications of pathogenicity
Select item 460614	NM_144997.7(FLCN):c.396+6C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +4 more	GConflicting classifications of pathogenicity
Select item 460601	NM_144997.7(FLCN):c.1538+10A>C	FLCN	Single nucleotide variant (intron variant)	FLCN-related condition +6 more	GBenign
Select item 460594	NM_144997.7(FLCN):c.1432+8C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +5 more	GConflicting classifications of pathogenicity
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 460585	NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)	FLCN (G398A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 460579	NM_144997.7(FLCN):c.1087A>T (p.Met363Leu)	FLCN (M363L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 460577	NM_144997.7(FLCN):c.1062+7G>A	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +5 more	GBenign/Likely benign
Select item 429820	NM_144997.7(FLCN):c.49dup (p.Arg17fs)	FLCN (R17fs)	Duplication (frameshift variant)	Potocki-Lupski syndrome +2 more	GPathogenic
Select item 428658	NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)	FLCN (G453fs +1 more)	Deletion (frameshift variant)	Familial spontaneous pneumothorax +5 more	GPathogenic/Likely pathogenic
Select item 428647	NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	FLCN (W553R +1 more)	Single nucleotide variant (missense variant)	Familial spontaneous pneumothorax +6 more	GPathogenic/Likely pathogenic
Select item 415622	NM_144997.7(FLCN):c.1326C>T (p.His442=)	FLCN	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +7 more	GBenign/Likely benign
Select item 415620	NM_144997.7(FLCN):c.75G>A (p.Leu25=)	FLCN	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +7 more	GBenign/Likely benign
Select item 415618	NM_144997.7(FLCN):c.792G>A (p.Ala264=)	FLCN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 415611	NM_144997.7(FLCN):c.779+9C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +6 more	GBenign/Likely benign
Select item 409403	NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)	FLCN (R179W +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +7 more	GConflicting classifications of pathogenicity
Select item 409391	NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)	FLCN (S38I)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 409382	NM_144997.7(FLCN):c.249+2C>T	FLCN	Single nucleotide variant (splice donor variant)	Nonpapillary renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 409379	NM_144997.7(FLCN):c.748C>A (p.Leu250Met)	FLCN (L250M +1 more)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 389860	NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)	FLCN	Single nucleotide variant (synonymous variant)	Birt-Hogg-Dube syndrome +7 more	GBenign/Likely benign
Select item 322068	NM_144997.7(FLCN):c.536G>A (p.Arg179Gln)	FLCN (R179Q +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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 265154	NM_144997.7(FLCN):c.1062+2T>G	FLCN	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 253251	NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	FLCN (R477* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 253233	NM_144997.7(FLCN):c.716G>A (p.Arg239His)	FLCN (R239H +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +6 more	GConflicting classifications of pathogenicity
Select item 241932	NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)	FLCN (P28S)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +6 more	GConflicting classifications of pathogenicity
Select item 241929	NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)	FLCN (L205P +1 more)	Single nucleotide variant (missense variant)	Potocki-Lupski syndrome +5 more	GConflicting classifications of pathogenicity
Select item 241925	NM_144997.7(FLCN):c.450T>C (p.Phe150=)	FLCN	Single nucleotide variant (synonymous variant)	FLCN-related condition +7 more	GBenign/Likely benign
Select item 233744	NM_144997.7(FLCN):c.189del (p.Ala64fs)	FLCN (A64fs)	Deletion (frameshift variant)	Nonpapillary renal cell carcinoma +6 more	GPathogenic/Likely pathogenic
Select item 231274	NM_144997.7(FLCN):c.779+1G>T	FLCN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic/Likely pathogenic
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 +6 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)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity

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