C3469526[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241589	NM_022725.4(FANCF):c.1018G>T (p.Glu340Ter)	FANCF, LOC130005443 (E340*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 666159	NM_022725.4(FANCF):c.943dup (p.Cys315fs)	FANCF, LOC130005443 (C315fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F +1 more	GConflicting classifications of pathogenicity
Select item 964280	NM_022725.4(FANCF):c.911G>C (p.Trp304Ser)	FANCF, LOC130005444 (W304S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2675555	NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)	FANCF, LOC130005444 (Q300*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 1319635	NM_022725.4(FANCF):c.801C>A (p.His267Gln)	FANCF (H267Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +2 more	GUncertain significance
Select item 2675561	NM_022725.4(FANCF):c.792dup (p.Ser265Ter)	FANCF (S265*)	Duplication (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 3241588	NM_022725.4(FANCF):c.774_780del (p.Leu259_Leu260insTer)	FANCF	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675565	NM_022725.4(FANCF):c.736del (p.Glu246fs)	FANCF (E246fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675560	NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)	FANCF (E220*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F +1 more	GPathogenic/Likely pathogenic
Select item 3241586	NM_022725.4(FANCF):c.641dup (p.Leu214fs)	FANCF (L214fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 806634	NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer)	FANCF	Deletion (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 997476	NM_022725.4(FANCF):c.581A>G (p.Glu194Gly)	FANCF (E194G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 998328	NM_022725.4(FANCF):c.559A>G (p.Arg187Gly)	FANCF (R187G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2675562	NM_022725.4(FANCF):c.530_537del (p.Val177fs)	FANCF (V177fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2582336	NM_022725.4(FANCF):c.497A>C (p.Gln166Pro)	FANCF (Q166P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 929563	NM_022725.4(FANCF):c.496C>T (p.Gln166Ter)	FANCF (Q166*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GPathogenic
Select item 6343	NM_022725.4(FANCF):c.484_485del (p.Leu162fs)	FANCF (L162fs)	Microsatellite (frameshift variant)	Fanconi anemia +2 more	GPathogenic
Select item 998327	NM_022725.4(FANCF):c.452A>T (p.Tyr151Phe)	FANCF (Y151F)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1169397	NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer)	FANCF	Deletion (frameshift variant)	Fanconi anemia complementation group F	GPathogenic
Select item 2675564	NM_022725.4(FANCF):c.434del (p.Met145fs)	FANCF (M145fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 6341	NM_022725.4(FANCF):c.351_397del (p.Gly120fs)	FANCF (G120fs)	Deletion (frameshift variant)	Fanconi anemia +1 more	GPathogenic
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 3241584	NM_022725.4(FANCF):c.379G>T (p.Glu127Ter)	FANCF (E127*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 1341334	NM_022725.4(FANCF):c.349C>T (p.Pro117Ser)	FANCF (P117S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 998326	NM_022725.4(FANCF):c.338A>G (p.Gln113Arg)	FANCF (Q113R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 3241590	NM_022725.4(FANCF):c.307dup (p.Leu103fs)	FANCF (L103fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675559	NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)	FANCF	Microsatellite (nonsense)	Fanconi anemia complementation group F +1 more	GPathogenic/Likely pathogenic
Select item 6340	NM_022725.4(FANCF):c.230_252del (p.Val77fs)	FANCF	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 3241587	NM_022725.4(FANCF):c.235G>T (p.Gly79Ter)	FANCF (G79*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 929562	NM_022725.4(FANCF):c.219del (p.Arg74fs)	FANCF (R74fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 2675558	NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)	FANCF (Q68*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 806635	NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)	FANCF (Q65*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F +2 more	GLikely pathogenic
Select item 2675563	NM_022725.4(FANCF):c.167del (p.Thr56fs)	FANCF (T56fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675556	NM_022725.4(FANCF):c.133_136del (p.His45fs)	FANCF (H45fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic/Likely pathogenic
Select item 929561	NM_022725.4(FANCF):c.84del (p.Ala29fs)	FANCF (A29fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F +1 more	GPathogenic
Select item 3241585	NM_022725.4(FANCF):c.78G>A (p.Trp26Ter)	FANCF (W26*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 1075622	NM_022725.4(FANCF):c.24_25insA (p.Asp9fs)	FANCF (D9fs)	Insertion (frameshift variant)	Fanconi anemia +1 more	GPathogenic

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Items: 37