ClinVar for Gene (Select 2188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356177	NM_022725.4(FANCF):c.651G>A (p.Arg217=)	FANCF	Single nucleotide variant (synonymous variant)	FANCF-related disorder	GLikely benign
Select item 3340333	NM_022725.4(FANCF):c.698_699del (p.Gly233fs)	FANCF (G233fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3277668	NM_022725.4(FANCF):c.182G>A (p.Arg61Gln)	FANCF (R61Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277667	NM_022725.4(FANCF):c.830T>C (p.Leu277Pro)	FANCF (L277P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244653	NC_000011.9:g.(?_22215039)_(22647356_?)dup	ANO5, FANCF +1 more	Duplication	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 3244533	NC_000011.9:g.(?_22646232)_(22647356_?)del	FANCF	Deletion	Fanconi anemia	GPathogenic
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 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 3241588	NM_022725.4(FANCF):c.774_780del (p.Leu259_Leu260insTer)	FANCF	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
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 3241586	NM_022725.4(FANCF):c.641dup (p.Leu214fs)	FANCF (L214fs)	Duplication (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
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 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 3092812	NM_022725.4(FANCF):c.667G>C (p.Glu223Gln)	FANCF (E223Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092811	NM_022725.4(FANCF):c.666G>T (p.Leu222Phe)	FANCF (L222F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092810	NM_022725.4(FANCF):c.594G>C (p.Gln198His)	FANCF (Q198H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092808	NM_022725.4(FANCF):c.448G>A (p.Gly150Ser)	FANCF (G150S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068012	NM_022725.4(FANCF):c.248T>C (p.Phe83Ser)	FANCF (F83S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 3063187	GRCh37/hg19 11p14.3(chr11:22207494-22985845)x1	ANO5, CCDC179 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3023096	NM_022725.4(FANCF):c.822T>C (p.Tyr274=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3019593	NM_022725.4(FANCF):c.365G>C (p.Arg122Pro)	FANCF (R122P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 3018058	NM_022725.4(FANCF):c.9C>A (p.Ser3=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3006193	NM_022725.4(FANCF):c.924C>A (p.His308Gln)	FANCF, LOC130005444 (H308Q)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2998853	NM_022725.4(FANCF):c.537G>C (p.Lys179Asn)	FANCF (K179N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2984271	NM_022725.4(FANCF):c.633G>A (p.Gln211=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2957528	NM_022725.4(FANCF):c.623C>T (p.Ala208Val)	FANCF (A208V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2909860	NM_022725.4(FANCF):c.267T>C (p.Cys89=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2909787	NM_022725.4(FANCF):c.204A>G (p.Gln68=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2905062	NM_022725.4(FANCF):c.49G>A (p.Val17Ile)	FANCF (V17I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2895591	NM_022725.4(FANCF):c.864C>T (p.Asp288=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2894603	NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)	FANCF (E223*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 2894057	NM_022725.4(FANCF):c.504_505delinsAT (p.Glu168_Leu169=)	FANCF	Indel (synonymous variant)	Fanconi anemia	GUncertain significance
Select item 2891400	NM_022725.4(FANCF):c.857A>C (p.His286Pro)	FANCF (H286P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2869527	NM_022725.4(FANCF):c.507G>A (p.Leu169=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2851486	NM_022725.4(FANCF):c.664T>C (p.Leu222=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2844660	NM_022725.4(FANCF):c.448G>C (p.Gly150Arg)	FANCF (G150R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2834620	NM_022725.4(FANCF):c.54A>G (p.Ser18=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GUncertain significance
Select item 2825110	NM_022725.4(FANCF):c.447T>C (p.Asn149=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GUncertain significance
Select item 2824961	NM_022725.4(FANCF):c.533G>A (p.Gly178Glu)	FANCF (G178E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2815148	NM_022725.4(FANCF):c.391G>A (p.Glu131Lys)	FANCF (E131K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2810140	NM_022725.4(FANCF):c.477G>A (p.Glu159=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GUncertain significance
Select item 2802017	NM_022725.4(FANCF):c.763C>G (p.Leu255Val)	FANCF (L255V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2795226	NM_022725.4(FANCF):c.551G>C (p.Arg184Pro)	FANCF (R184P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2784988	NM_022725.4(FANCF):c.388C>A (p.Gln130Lys)	FANCF (Q130K)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2762055	NM_022725.4(FANCF):c.80A>C (p.Asp27Ala)	FANCF (D27A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2759153	NM_022725.4(FANCF):c.292C>T (p.Leu98=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2751038	NM_022725.4(FANCF):c.553C>T (p.Pro185Ser)	FANCF (P185S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2747496	NM_022725.4(FANCF):c.90C>A (p.Thr30=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2740684	NM_022725.4(FANCF):c.771C>G (p.Ala257=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2739326	NM_022725.4(FANCF):c.385C>A (p.Leu129Ile)	FANCF (L129I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2723425	NM_022725.4(FANCF):c.654C>T (p.Pro218=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2721403	NM_022725.4(FANCF):c.724C>T (p.Leu242=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2716978	NM_022725.4(FANCF):c.88A>G (p.Thr30Ala)	FANCF (T30A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2714603	NM_022725.4(FANCF):c.183G>A (p.Arg61=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2709031	NM_022725.4(FANCF):c.668A>C (p.Glu223Ala)	FANCF (E223A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2708853	NM_022725.4(FANCF):c.769G>A (p.Ala257Thr)	FANCF (A257T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2704287	NM_022725.4(FANCF):c.407_415dup (p.Arg138_Arg139insLeuAlaArg)	FANCF	Duplication (inframe_insertion)	Fanconi anemia	GUncertain significance
Select item 2696205	NM_022725.4(FANCF):c.139C>T (p.Arg47Cys)	FANCF (R47C)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2691515	NM_022725.4(FANCF):c.-7G>T	FANCF	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 2675564	NM_022725.4(FANCF):c.434del (p.Met145fs)	FANCF (M145fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	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 2675562	NM_022725.4(FANCF):c.530_537del (p.Val177fs)	FANCF (V177fs)	Deletion (frameshift variant)	Fanconi anemia complementation group F	GLikely pathogenic
Select item 2675561	NM_022725.4(FANCF):c.792dup (p.Ser265Ter)	FANCF (S265*)	Duplication (nonsense)	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 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 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 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 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 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 2641689	NM_022725.4(FANCF):c.1011A>G (p.Gly337=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2630348	NM_022725.4(FANCF):c.205G>T (p.Glu69Ter)	FANCF (E69*)	Single nucleotide variant (nonsense)	FANCF-related disorder	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 2534045	NM_022725.4(FANCF):c.115C>T (p.Arg39Cys)	FANCF (R39C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2530854	NM_022725.4(FANCF):c.752T>G (p.Phe251Cys)	FANCF (F251C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445706	NM_022725.4(FANCF):c.654_655del (p.Gln219fs)	FANCF (Q219fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2445329	NM_022725.4(FANCF):c.394A>G (p.Ser132Gly)	FANCF (S132G)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2428372	NM_022725.4(FANCF):c.175G>C (p.Glu59Gln)	FANCF (E59Q)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2426769	NC_000011.9:g.(?_22646232)_(22647356_?)dup	FANCF	Duplication	Fanconi anemia	GUncertain significance
Select item 2424905	NM_022725.4(FANCF):c.306C>T (p.Ala102=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2420506	NM_022725.4(FANCF):c.50T>C (p.Val17Ala)	FANCF (V17A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2364283	NM_022725.4(FANCF):c.95G>A (p.Arg32His)	FANCF (R32H)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2357428	NM_022725.4(FANCF):c.355C>G (p.Pro119Ala)	FANCF (P119A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303644	NM_022725.4(FANCF):c.389A>G (p.Gln130Arg)	FANCF (Q130R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276428	NM_022725.4(FANCF):c.39G>C (p.Glu13Asp)	FANCF (E13D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201202	NM_022725.4(FANCF):c.309C>T (p.Leu103=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2199374	NM_022725.4(FANCF):c.434T>G (p.Met145Arg)	FANCF (M145R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2196917	NM_022725.4(FANCF):c.1123T>C (p.Ter375Gln)	FANCF	Single nucleotide variant (stop lost)	Fanconi anemia	GUncertain significance
Select item 2195326	NM_022725.4(FANCF):c.771C>T (p.Ala257=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2194907	NM_022725.4(FANCF):c.130A>T (p.Ile44Phe)	FANCF (I44F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2191808	NM_022725.4(FANCF):c.799C>T (p.His267Tyr)	FANCF (H267Y)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2190478	NM_022725.4(FANCF):c.924C>T (p.His308=)	FANCF, LOC130005444	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2188826	NM_022725.4(FANCF):c.291G>A (p.Leu97=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2188422	NM_022725.4(FANCF):c.829C>G (p.Leu277Val)	FANCF (L277V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2188325	NM_022725.4(FANCF):c.351C>T (p.Pro117=)	FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2186241	NM_022725.4(FANCF):c.164G>A (p.Arg55His)	FANCF (R55H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2181611	NM_022725.4(FANCF):c.244A>G (p.Asn82Asp)	FANCF (N82D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2179391	NM_022725.4(FANCF):c.683A>C (p.Lys228Thr)	FANCF (K228T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2176140	NM_022725.4(FANCF):c.760G>A (p.Ala254Thr)	FANCF (A254T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2158805	NM_022725.4(FANCF):c.445A>G (p.Asn149Asp)	FANCF (N149D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance

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