Related gene-specific medical variations for Gene (Select 2188) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3006193	NM_022725.4(FANCF):c.924C>A (p.His308Gln)	FANCF, LOC130005444 (H308Q)	Single nucleotide variant (missense variant)	Fanconi anemia	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 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 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 2641689	NM_022725.4(FANCF):c.1011A>G (p.Gly337=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2445329	NM_022725.4(FANCF):c.394A>G (p.Ser132Gly)	FANCF (S132G)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
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 2139815	NM_022725.4(FANCF):c.994T>C (p.Cys332Arg)	FANCF, LOC130005443 (C332R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2086639	NM_022725.4(FANCF):c.1048C>A (p.Leu350Ile)	FANCF, LOC130005443 (L350I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2060679	NM_022725.4(FANCF):c.1025C>T (p.Pro342Leu)	FANCF, LOC130005443 (P342L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2000810	NM_022725.4(FANCF):c.952C>G (p.Pro318Ala)	FANCF, LOC130005443 (P318A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1981321	NM_022725.4(FANCF):c.886G>T (p.Gly296Ter)	FANCF, LOC130005444 (G296*)	Single nucleotide variant (nonsense)	Fanconi anemia	GUncertain significance
Select item 1931738	NM_022725.4(FANCF):c.1038C>T (p.Ile346=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1897754	NM_022725.4(FANCF):c.993C>A (p.Thr331=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
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 1663445	NM_022725.4(FANCF):c.987G>C (p.Leu329=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1649765	NM_022725.4(FANCF):c.984C>T (p.Ala328=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1622299	NM_022725.4(FANCF):c.927T>C (p.Asn309=)	FANCF, LOC130005444	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1540138	NM_022725.4(FANCF):c.1054T>C (p.Leu352=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1538244	NM_022725.4(FANCF):c.1044A>G (p.Thr348=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1505132	NM_022725.4(FANCF):c.1060C>T (p.Leu354Phe)	FANCF, LOC130005443 (L354F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1484711	NM_022725.4(FANCF):c.1082A>G (p.Lys361Arg)	LOC130005443, FANCF (K361R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1480002	NM_022725.4(FANCF):c.1007A>G (p.Asp336Gly)	FANCF, LOC130005443 (D336G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1476107	NM_022725.4(FANCF):c.1078A>G (p.Arg360Gly)	FANCF, LOC130005443 (R360G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
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 1424808	NM_022725.4(FANCF):c.1048C>T (p.Leu350Phe)	FANCF, LOC130005443 (L350F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1422476	NM_022725.4(FANCF):c.887G>T (p.Gly296Val)	FANCF, LOC130005444 (G296V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1419669	NM_022725.4(FANCF):c.1041G>A (p.Trp347Ter)	FANCF, LOC130005443 (W347*)	Single nucleotide variant (nonsense)	Fanconi anemia	GUncertain significance
Select item 1411943	NM_022725.4(FANCF):c.899A>G (p.Gln300Arg)	FANCF, LOC130005444 (Q300R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1408269	NM_022725.4(FANCF):c.921G>T (p.Leu307Phe)	FANCF, LOC130005444 (L307F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1376822	NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)	FANCF, LOC130005443 (P318S)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	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 1349302	NM_022725.4(FANCF):c.940C>T (p.Leu314Phe)	FANCF, LOC130005443 (L314F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1343704	NM_022725.4(FANCF):c.904G>A (p.Val302Met)	FANCF, LOC130005444 (V302M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1144741	NM_022725.4(FANCF):c.1026T>C (p.Pro342=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1097610	NM_022725.4(FANCF):c.1002G>C (p.Ala334=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1053615	NM_022725.4(FANCF):c.992C>T (p.Thr331Ile)	FANCF, LOC130005443 (T331I)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 964280	NM_022725.4(FANCF):c.911G>C (p.Trp304Ser)	FANCF, LOC130005444 (W304S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 878061	NM_022725.4(FANCF):c.970A>G (p.Lys324Glu)	FANCF, LOC130005443 (K324E)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 877895	NM_022725.4(FANCF):c.1063C>T (p.Arg355Cys)	FANCF, LOC130005443 (R355C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
Select item 877894	NM_022725.4(FANCF):c.1064G>A (p.Arg355His)	LOC130005443, FANCF (R355H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F +1 more	GUncertain significance
Select item 859048	NM_022725.4(FANCF):c.986T>C (p.Leu329Pro)	LOC130005443, FANCF (L329P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 847575	NM_022725.4(FANCF):c.1089A>C (p.Gln363His)	FANCF, LOC130005443 (Q363H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
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 650780	NM_022725.4(FANCF):c.923A>G (p.His308Arg)	FANCF, LOC130005444 (H308R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 591730	NM_022725.4(FANCF):c.881G>A (p.Trp294Ter)	FANCF, LOC130005444 (W294*)	Single nucleotide variant (nonsense)	not provided	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 526437	NM_022725.4(FANCF):c.1035C>T (p.Ser345=)	FANCF, LOC130005443	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 456288	NM_022725.4(FANCF):c.907C>T (p.Pro303Ser)	FANCF, LOC130005444 (P303S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 456287	NM_022725.4(FANCF):c.885T>G (p.Val295=)	LOC130005444, FANCF	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 418190	NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter)	FANCF, LOC130005443 (Q363*)	Single nucleotide variant (nonsense)	not provided +3 more	GUncertain significance
Select item 414818	NM_022725.4(FANCF):c.891T>G (p.Thr297=)	FANCF, LOC130005444	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 408150	NM_022725.4(FANCF):c.889A>G (p.Thr297Ala)	FANCF, LOC130005444 (T297A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 304200	NM_022725.4(FANCF):c.1006G>A (p.Asp336Asn)	FANCF, LOC130005443 (D336N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group F	GUncertain significance
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 134353	NM_022725.4(FANCF):c.179G>A (p.Arg60Gln)	FANCF (R60Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134352	NM_022725.4(FANCF):c.1041G>T (p.Trp347Cys)	FANCF, LOC130005443 (W347C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134351	NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)	FANCF, LOC130005443 (P320L)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 134350	NM_022725.4(FANCF):c.955C>T (p.Pro319Ser)	FANCF, LOC130005443 (P319S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134347	NM_022725.4(FANCF):c.256C>T (p.Leu86Phe)	FANCF (L86F)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 74