"GeneDx"[submitter] AND "FANCF"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 304197	NM_022725.4(FANCF):c.*207C>T	FANCF	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1198784	NM_022725.4(FANCF):c.*186T>G	FANCF	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 418190	NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)	FANCF, LOC130005443 (Q363*)	Single nucleotide variant (nonsense)	Fanconi anemia +3 more	GUncertain significance
Select item 134351	NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)	FANCF, LOC130005443 (P320L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 215922	NM_022725.4(FANCF):c.883G>A (p.Val295Ile)	FANCF, LOC130005444 (V295I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 241444	NM_022725.4(FANCF):c.825G>A (p.Leu275=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign
Select item 241443	NM_022725.4(FANCF):c.786A>G (p.Leu262=)	FANCF	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 3340333	NM_022725.4(FANCF):c.698_699del (p.Gly233fs)	FANCF (G233fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 435150	NM_022725.4(FANCF):c.647G>C (p.Arg216Pro)	FANCF (R216P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 252737	NM_022725.4(FANCF):c.633G>T (p.Gln211His)	FANCF (Q211H)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 456284	NM_022725.4(FANCF):c.573C>G (p.Ser191Arg)	FANCF (S191R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +4 more	GConflicting classifications of pathogenicity
Select item 134349	NM_022725.4(FANCF):c.557C>T (p.Ala186Val)	FANCF (A186V)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GBenign/Likely benign
Select item 6343	NM_022725.4(FANCF):c.484_485del (p.Leu162fs)	FANCF (L162fs)	Microsatellite (frameshift variant)	Fanconi anemia +2 more	GPathogenic
Select item 1440055	NM_022725.4(FANCF):c.451T>A (p.Tyr151Asn)	FANCF (Y151N)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 241440	NM_022725.4(FANCF):c.387C>T (p.Leu129=)	FANCF	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 134348	NM_022725.4(FANCF):c.385C>G (p.Leu129Val)	FANCF (L129V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +3 more	GUncertain significance
Select item 134354	NM_022725.4(FANCF):c.373G>A (p.Asp125Asn)	FANCF (D125N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 392402	NM_022725.4(FANCF):c.359G>A (p.Gly120Asp)	FANCF (G120D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697625	NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)	FANCF (R50W)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 1307899	NM_022725.4(FANCF):c.134A>G (p.His45Arg)	FANCF (H45R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 261631	NM_022725.4(FANCF):c.96C>T (p.Arg32=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group F +2 more	GBenign/Likely benign
Select item 965327	NM_022725.4(FANCF):c.91G>A (p.Val31Met)	FANCF (V31M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 456282	NM_022725.4(FANCF):c.14T>C (p.Leu5Pro)	FANCF (L5P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 261630	NM_022725.4(FANCF):c.-10C>T	FANCF	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 1211036	NC_000011.10:g.22625904C>G	FANCF	Single nucleotide variant	not provided	GLikely benign
Select item 1207065	NC_000011.10:g.22625955T>G	FANCF	Single nucleotide variant	not provided	GLikely benign
Select item 1240788	NC_000011.10:g.22626004A>G	FANCF, GAS2	Single nucleotide variant	not provided	GBenign
Select item 1262605	NC_000011.10:g.22626136_22626140dup	FANCF, GAS2	Duplication	not provided	GBenign

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Items: 29