"Sema4, Sema4"[submitter] AND "FANCF"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691923	NM_022725.4(FANCF):c.1056A>C (p.Leu352Phe)	FANCF, LOC130005443 (L352F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1691922	NM_022725.4(FANCF):c.1020A>G (p.Glu340=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1475306	NM_022725.4(FANCF):c.1012G>A (p.Asp338Asn)	FANCF, LOC130005443 (D338N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1374883	NM_022725.4(FANCF):c.1001C>T (p.Ala334Val)	FANCF, LOC130005443 (A334V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 526462	NM_022725.4(FANCF):c.993C>G (p.Thr331=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 134351	NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)	FANCF, LOC130005443 (P320L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +3 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 1691930	NM_022725.4(FANCF):c.812C>T (p.Ser271Phe)	FANCF (S271F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 134355	NM_022725.4(FANCF):c.728G>A (p.Gly243Glu)	FANCF (G243E)	Single nucleotide variant (missense variant)	Fanconi anemia	GConflicting classifications of pathogenicity
Select item 1561261	NM_022725.4(FANCF):c.714C>T (p.Val238=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1691928	NM_022725.4(FANCF):c.696G>C (p.Glu232Asp)	FANCF (E232D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1691927	NM_022725.4(FANCF):c.688C>T (p.Pro230Ser)	FANCF (P230S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456286	NM_022725.4(FANCF):c.672C>T (p.Pro224=)	FANCF	Single nucleotide variant (synonymous variant)	FANCF-related disorder +1 more	GLikely benign
Select item 252737	NM_022725.4(FANCF):c.633G>T (p.Gln211His)	FANCF (Q211H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 6343	NM_022725.4(FANCF):c.484_485del (p.Leu162fs)	FANCF (L162fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 1584635	NM_022725.4(FANCF):c.471C>A (p.Leu157=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1319636	NM_022725.4(FANCF):c.466A>G (p.Asn156Asp)	FANCF (N156D)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 241441	NM_022725.4(FANCF):c.465A>T (p.Pro155=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 408148	NM_022725.4(FANCF):c.446A>G (p.Asn149Ser)	FANCF (N149S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 701972	NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)	FANCF (R138S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
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)	Fanconi anemia complementation group F +3 more	GConflicting classifications of pathogenicity
Select item 1691926	NM_022725.4(FANCF):c.281C>T (p.Ser94Phe)	FANCF (S94F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 701766	NM_022725.4(FANCF):c.279C>T (p.Leu93=)	FANCF	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 702269	NM_022725.4(FANCF):c.258C>T (p.Leu86=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 414815	NM_022725.4(FANCF):c.246C>T (p.Asn82=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GBenign/Likely benign
Select item 241437	NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)	FANCF (A81S)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GConflicting classifications of pathogenicity
Select item 1623861	NM_022725.4(FANCF):c.201G>A (p.Arg67=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 576019	NM_022725.4(FANCF):c.149G>C (p.Arg50Pro)	FANCF (R50P)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 965327	NM_022725.4(FANCF):c.91G>A (p.Val31Met)	FANCF (V31M)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1691929	NM_022725.4(FANCF):c.70A>T (p.Ser24Cys)	FANCF (S24C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1451961	NM_022725.4(FANCF):c.24G>C (p.Leu8=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 698250	NM_022725.4(FANCF):c.21C>T (p.His7=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1691925	NM_022725.4(FANCF):c.1A>T (p.Met1Leu)	FANCF (M1L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 1691924	NM_022725.4(FANCF):c.1A>C (p.Met1Leu)	FANCF (M1L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 35