"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 993694	NM_144997.7(FLCN):c.1697T>C (p.Met566Thr)	FLCN (M566T +1 more)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome 1 +3 more	GUncertain significance
Select item 253257	NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter)	FLCN (W511* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 748711	NM_144997.7(FLCN):c.1419A>C (p.Val473=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 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 439732	NM_144997.7(FLCN):c.1301-2A>G	FLCN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3363	NM_144997.7(FLCN):c.1285dup (p.His429fs)	FLCN (H447fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 3364	NM_144997.7(FLCN):c.1285del (p.His429fs)	FLCN (H447fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 184767	NM_144997.7(FLCN):c.1278C>T (p.Ile426=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 618131	NM_144997.7(FLCN):c.1188del (p.Val397fs)	FLCN (V397fs +1 more)	Deletion (frameshift variant)	not specified +2 more	GPathogenic
Select item 228691	NM_144997.7(FLCN):c.1177-5_1177-3del	FLCN	Microsatellite (intron variant)	Birt-Hogg-Dube syndrome +3 more	GPathogenic/Likely pathogenic
Select item 409405	NM_144997.7(FLCN):c.1174C>T (p.Arg392Trp)	FLCN (R392W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 96492	NM_144997.7(FLCN):c.890_893del (p.Glu297fs)	FLCN (E315fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 262549	NM_144997.7(FLCN):c.872-13A>G	FLCN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1330771	NM_144997.7(FLCN):c.871+170_871+178del	FLCN	Microsatellite (no sequence alteration +1 more)	not provided +1 more	GLikely benign
Select item 1802912	NM_144997.7(FLCN):c.871+22C>T	FLCN (P298L)	Single nucleotide variant (missense variant +1 more)	FLCN-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 262548	NM_144997.7(FLCN):c.779+10G>A	FLCN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 231274	NM_144997.7(FLCN):c.779+1G>T	FLCN	Single nucleotide variant (splice donor variant)	Birt-Hogg-Dube syndrome +7 more	GPathogenic/Likely pathogenic
Select item 96489	NM_144997.7(FLCN):c.726A>T (p.Thr242=)	FLCN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 439729	NM_144997.7(FLCN):c.665T>G (p.Met222Arg)	FLCN (M222R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 137384	NM_144997.7(FLCN):c.619-20C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +6 more	GLikely benign
Select item 618656	NM_144997.7(FLCN):c.594_596del (p.Asp198del)	FLCN (D198del +1 more)	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 439730	NM_144997.7(FLCN):c.507G>A (p.Trp169Ter)	FLCN (W169* +1 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 1330536	NM_144997.7(FLCN):c.396+19G>A	FLCN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 696606	NM_144997.7(FLCN):c.396+7C>T	FLCN	Single nucleotide variant (intron variant)	Birt-Hogg-Dube syndrome +5 more	GLikely benign
Select item 96482	NM_144997.7(FLCN):c.296del (p.Asp99fs)	FLCN (D99fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 41857	NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)	FLCN (A90S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 184250	NM_144997.7(FLCN):c.246C>T (p.Cys82=)	FLCN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3371	NM_144997.7(FLCN):c.235_238del (p.Ser79fs)	FLCN (S79fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 233744	NM_144997.7(FLCN):c.189del (p.Ala64fs)	FLCN (A64fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2025829	NM_144997.7(FLCN):c.89del (p.Pro30fs)	FLCN (P30fs)	Deletion (frameshift variant)	Birt-Hogg-Dube syndrome +1 more	GPathogenic
Select item 415620	NM_144997.7(FLCN):c.75G>A (p.Leu25=)	FLCN	Single nucleotide variant (synonymous variant)	Familial spontaneous pneumothorax +7 more	GBenign/Likely benign
Select item 824865	NM_144997.7(FLCN):c.43G>A (p.Gly15Ser)	FLCN (G15S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 993903	NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)	FLCN (C11W)	Single nucleotide variant (missense variant)	Birt-Hogg-Dube syndrome +1 more	GPathogenic/Likely pathogenic

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Items: 38