"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FANCF"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2641689	NM_022725.4(FANCF):c.1011A>G (p.Gly337=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	LOC130005444, FANCF (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)	not specified +3 more	GBenign
Select item 414819	NM_022725.4(FANCF):c.687A>T (p.Ser229=)	FANCF	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 806634	NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)	FANCF	Deletion (nonsense)	Fanconi anemia complementation group F +2 more	GPathogenic/Likely pathogenic
Select item 241441	NM_022725.4(FANCF):c.465A>T (p.Pro155=)	FANCF	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2641690	NM_022725.4(FANCF):c.388dup (p.Gln130fs)	FANCF (Q130fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F +2 more	GPathogenic/Likely pathogenic
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 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 1567314	NM_022725.4(FANCF):c.360C>T (p.Gly120=)	FANCF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 241437	NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)	FANCF (A81S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 699992	NM_022725.4(FANCF):c.234G>A (p.Pro78=)	FANCF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 806635	NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)	FANCF (Q65*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 697625	NM_022725.4(FANCF):c.148C>T (p.Arg50Trp)	FANCF (R50W)	Single nucleotide variant (missense variant)	FANCF-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1451961	NM_022725.4(FANCF):c.24G>C (p.Leu8=)	FANCF	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 493563	GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3	FANCF, GAS2 +4 more	Copy number gain	not provided	GUncertain significance