Unique variants in the FANCC gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000136.2 transcript reference sequence.

374 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 1 c.-262-4937_-79+3379del r.(?) p.? FA - VUS g.98076429_98084928del g.95314147_95322646del - - FANCC_000062 breakpoints cloned PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
+/+ 1 _1_1i c.(?_-262)_-79+3686del r.(?) p.? FA - pathogenic (recessive) g.98076122_98079991del - g.97115943_97125170del9228 - FANCC_000070 1 more item PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
+/. 3 1 c.(?_-262)_(250+1_251-1)del r.0? p.0? FA - pathogenic (recessive) g.(98003026_98009713)_(98079991_?)del - - - FANCC_000002 detected in RNA - - - Germline ? - - - - Arleen D. Auerbach
?/. 2 - c.-78-2A>G r.spl? p.? - - NA g.98011653T>C - chr9_98011653_T_C - FANCC_000377 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.-78-1G>C r.spl? p.? - - NA g.98011652C>G - chr9_98011652_C_G - FANCC_000376 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 1 - c.-78-1G>T r.spl? p.? - - NA g.98011652C>A - chr9_98011652_C_A - FANCC_000375 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 1 c.-64C>T r.(?) p.? FA - VUS g.98011637G>A g.95249355G>A - - FANCC_000050 1 more item Couch 2005 - - Germline ? - - - - Arleen D. Auerbach
?/. 2 2 c.8_9del r.(?) p.(Q3Rfs*7) FA - VUS g.98011565_98011566del g.95249283_95249284del - - FANCC_000063 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
?/. 2 - c.9A>T r.(?) p.(Gln3His) - - NA g.98011565T>A - chr9_98011565_T_A - FANCC_000374 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.14C>G r.(?) p.(Ser5*) - - NA g.98011560G>C - chr9_98011560_G_C - FANCC_000373 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.16G>C r.(?) p.(Val6Leu) - - NA g.98011558C>G - chr9_98011558_C_G - FANCC_000372 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.20A>C r.(?) p.(Asp7Ala) - - NA g.98011554T>G - chr9_98011554_T_G - FANCC_000371 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.28del r.(?) p.(Cys10Valfs*36) - - NA g.98011547del - chr9_98011545_CA_C - FANCC_000370 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.28T>G r.(?) p.(Cys10Gly) - - NA g.98011546A>C - chr9_98011546_A_C - FANCC_000369 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls, 9/60466 cases - - - BRIDGES consortium
-?/., ?/. 3 - c.29G>A r.(?) p.(Cys10Tyr) - - likely benign, NA g.98011545C>T g.95249263C>T chr9_98011545_C_T, FANCC(NM_000136.2):c.29G>A (p.C10Y) - FANCC_000084 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 46/53461 controls, 53/60466 cases - - - VKGL-NL_Rotterdam, BRIDGES consortium
?/. 2 - c.35A>G r.(?) p.(Tyr12Cys) - - NA g.98011539T>C - chr9_98011539_T_C - FANCC_000368 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
+/., ?/. 14 1 c.37C>T r.(?) p.(Gln13*), p.(Q13*) FA ACMG NA, pathogenic, pathogenic (recessive) g.98011537G>A g.95249255G>A chr9_98011537_G_A - FANCC_000001 2 more items PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Gibson 1996, PubMed: Murer-Orlando 1993 - rs121917784 Germline ? 1/53461 controls - - - Arleen D. Auerbach, Andreas Laner, BRIDGES consortium
?/. 2 - c.46A>T r.(?) p.(Met16Leu) - - NA g.98011528T>A - chr9_98011528_T_A - FANCC_000367 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.62T>C r.(?) p.(Val21Ala) - - NA g.98011512A>G - chr9_98011512_A_G - FANCC_000366 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 14 1 c.65G>A r.(?) p.(Trp22*), p.(W22*) FA - pathogenic (recessive) g.98011509C>T g.95249227C>T - - FANCC_000040 - Pilonetto DV - HC/UFPR (07/08/2016), PubMed: Ameziane 2007, PubMed: Gibson 1996 - rs377294947 Germline ? - - - - Arleen D. Auerbach, Johan de Winter, Daniela Pilonetto
?/. 2 - c.67del r.(?) p.(Asp23Ilefs*23) - - NA g.98011509del - chr9_98011506_TC_T - FANCC_000006 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 31/53461 controls, 33/60466 cases - - - BRIDGES consortium
+/., +?/., ?/. 63 1 c.67del r.(?) p.(Asp23Ilefs*23), p.(Asp23IlefsTer23), p.(D23Ifs*23) FA - likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.98011509del g.95249227del 322delG (D23IfsX23), 67delG, FANCC(NM_000136.2):c.67delG (p.D23Ifs*23) - FANCC_000006 VKGL data sharing initiative Nederland PubMed: Ameziane 2007, PubMed: Gille 2012, Journal: Gille 2012, PubMed: Strathdee 1992, 1 more item - - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, Arleen D. Auerbach, Johan de Winter, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/., -?/., ?/. 4 1 c.77C>T r.(?) p.(S26F), p.(Ser26Phe) FA - benign, likely benign, VUS g.98011497G>A g.95249215G>A FANCC(NM_000136.2):c.77C>T (p.S26F) - FANCC_000011 6 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Verlander 1994 - rs1800361 CLASSIFICATION record, Germline ? 6/2795 individuals - - - Arleen D. Auerbach, VKGL-NL_Rotterdam, VKGL-NL_VUmc, Mohammed Faruq
?/. 2 - c.80C>T r.(?) p.(Thr27Ile) - - NA g.98011494G>A - chr9_98011494_G_A - FANCC_000365 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.109C>G r.(?) p.(His37Asp) - - NA g.98011465G>C - chr9_98011465_G_C - FANCC_000364 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.109C>T r.(?) p.(His37Tyr) - - NA g.98011465G>A - chr9_98011465_G_A - FANCC_000363 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.112G>A r.(?) p.(Val38Met) - - NA g.98011462C>T - chr9_98011462_C_T - FANCC_000361 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.112G>C r.(?) p.(Val38Leu) - - NA g.98011462C>G - chr9_98011462_C_G - FANCC_000362 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.126G>T r.(?) p.(Gln42His) - - NA g.98011448C>A - chr9_98011448_C_A - FANCC_000360 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.143T>C r.(?) p.(Met48Thr) - - NA g.98011431A>G - chr9_98011431_A_G - FANCC_000359 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/+, +/. 8 1i c.165+1G>T r.spl p.? FA - pathogenic (recessive) g.98011408C>A g.95249126C>A - - FANCC_000024 - - - - Germline ? - - - - Arleen D. Auerbach
+/+ 8 2i_3i c.166-620_250+3083delinsAACTAAATTTACTTTTT r.? p.(Asp56Metfs*7) FA - pathogenic (recessive) g.98006631_98010418delinsAAAAAGTAAATTTAGTT g.95244349_95248136delinsAAAAAGTAAATTTAGTT g.97046452_97050240del3789 - FANCC_000069 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
?/. 1 - c.176C>G r.(?) p.(Thr59Arg) - - NA g.98009788G>C - chr9_98009788_G_C - FANCC_000357 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.176C>T r.(?) p.(Thr59Ile) - - NA g.98009788G>A - chr9_98009788_G_A - FANCC_000358 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 2 c.178G>A r.(?) p.(?) FA - VUS g.98009786C>T g.95247504C>T - - FANCC_000056 - PubMed: Seal et al 2003 - - Germline ? - - - - Arleen D. Auerbach
?/. 1 - c.185A>G r.(?) p.(Glu62Gly) - - NA g.98009779T>C - chr9_98009779_T_C - FANCC_000356 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.188G>C r.(?) p.(Arg63Thr) - - NA g.98009776C>G - chr9_98009776_C_G - FANCC_000355 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.193C>T r.(?) p.(Pro65Ser) - - NA g.98009771G>A - chr9_98009771_G_A - FANCC_000354 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.197C>T r.(?) p.(Thr66Ile) - - NA g.98009767G>A - chr9_98009767_G_A - FANCC_000353 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.218A>G r.(?) p.(Lys73Arg) - - NA g.98009746T>C - chr9_98009746_T_C - FANCC_000352 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.227G>A r.(?) p.(Trp76*) - - NA g.98009737C>T - chr9_98009737_C_T - FANCC_000351 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.238A>G r.(?) p.(Ile80Val) - - NA g.98009726T>C - chr9_98009726_T_C - FANCC_000350 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.239T>C r.(?) p.(Ile80Thr) - - NA g.98009725A>G - chr9_98009725_A_G - FANCC_000349 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 6/60466 cases - - - BRIDGES consortium
?/. 1 - c.244G>A r.(?) p.(Ala82Thr) - - NA g.98009720C>T - chr9_98009720_C_T - FANCC_000348 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.245C>T r.(?) p.(Ala82Val) - - NA g.98009719G>A - chr9_98009719_G_A - FANCC_000347 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 2i c.250+220G>A r.(?) p.(=) FA - VUS g.98009494C>T g.95247212C>T - - FANCC_000036 - Auerbach Lab - - Germline ? - - - - Arleen D. Auerbach
-?/. 1 - c.251-20T>C r.(=) p.(=) - - likely benign g.98003045A>G g.95240763A>G FANCC(NM_000136.2):c.251-20T>C - FANCC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.251A>G r.(?) p.(Asp84Gly) - - NA g.98003025T>C - chr9_98003025_T_C - FANCC_000346 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
+/. 1 3 c.(250+1_251-1)_(345+1_346-1)del r.(?) p.(?) FA - pathogenic (recessive) g.(97934430_98002930)_(98003026_98009713)del - - - FANCC_000025 genomic deletion ex 3 - - - Germline ? - - - - Arleen D. Auerbach
?/. 1 - c.254A>G r.(?) p.(Glu85Gly) - - NA g.98003022T>C - chr9_98003022_T_C - FANCC_000345 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.258C>G r.(?) p.(Ser86Arg) - - NA g.98003018G>C - chr9_98003018_G_C - FANCC_000344 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.262A>C r.(?) p.(Lys88Gln) - - NA g.98003014T>G - chr9_98003014_T_G - FANCC_000343 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.265A>C r.(?) p.(Ile89Leu) - - NA g.98003011T>G - chr9_98003011_T_G - FANCC_000342 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.267del r.(?) p.(Leu90*) - - NA g.98003010del - chr9_98003008_GA_G - FANCC_000341 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.274T>C r.(?) p.(Trp92Arg) - - NA g.98003002A>G - chr9_98003002_A_G - FANCC_000340 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.287G>T r.(?) p.(Cys96Phe) - - NA, VUS g.98002989C>A g.95240707C>A chr9_98002989_C_A, FANCC(NM_000136.2):c.287G>T (p.C96F) - FANCC_000077 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - CLASSIFICATION record, Germline - 1/60466 cases - - - VKGL-NL_Rotterdam, BRIDGES consortium
?/. 1 - c.290T>C r.(?) p.(Leu97Pro) - - NA g.98002986A>G - chr9_98002986_A_G - FANCC_000339 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.304C>T r.(?) p.(Pro102Ser) - - NA g.98002972G>A - chr9_98002972_G_A - FANCC_000338 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+?/. 1 - c.319C>T r.(?) p.(Gln107*) - - likely pathogenic g.98002957G>A g.95240675G>A - - FANCC_000086 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs730881731 Germline - 1/2795 individuals - - - Mohammed Faruq
?/. 1 - c.335C>G r.(?) p.(Ser112Cys) - - NA g.98002941G>C - chr9_98002941_G_C - FANCC_000337 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 9 c.338G>A r.(?) p.(Trp113*) - - pathogenic g.98002938C>T g.95240656C>T - - FANCC_000067 - Pilonetto DV - HC/UFPR (7/9/2015) - - Germline - - - - - Daniela Pilonetto
?/. 2 - c.343C>G r.(?) p.(Gln115Glu) - - NA g.98002933G>C - chr9_98002933_G_C - FANCC_000336 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 5/60466 cases - - - BRIDGES consortium
?/. 1 3i c.346-1930T>C r.(?) p.(=) FA - VUS g.97936359A>G g.95174077A>G - - FANCC_000039 - Auerbach Lab - - Germline ? - - - - Arleen D. Auerbach
?/. 1 3i c.346-1840C>A r.(?) p.? FA - VUS g.97936269C>A g.95173987G>T - - FANCC_000057 1 more item Auerbach Lab - - Germline ? - - - - Arleen D. Auerbach
?/. 1 3i c.346-47T>C r.(?) p.(?) FA - VUS g.97934476A>G g.95172194A>G - - FANCC_000049 - PubMed: Couch 2005 - - Germline ? - - - - Arleen D. Auerbach
+/. 1 - c.346-1G>A r.spl p.? - - pathogenic g.97934430C>T g.95172148C>T - - FANCC_000080 - PubMed: Fostira 2020 - - Germline - - - - - Florentia Fostira
?/. 2 - c.348dup r.(?) p.(Val117Cysfs*12) - - NA g.97934427dup - chr9_97934426_C_CA - FANCC_000335 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
+/. 9 4 c.355_360delinsA r.(?) p.(S119Nfs*8) FA - pathogenic (recessive) g.97934415_97934420delinsT g.95172133_95172138delinsT - - FANCC_000026 - - - - Germline ? - - - - Arleen D. Auerbach
+/. 2 4 c.356_360del r.(?) p.(S119Yfs*8) FA - pathogenic (recessive) g.97934417_97934421del g.95172135_95172139del - - FANCC_000035 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
?/. 1 - c.358C>T r.(?) p.(His120Tyr) - - NA g.97934417G>A - chr9_97934417_G_A - FANCC_000334 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.362T>C r.(?) p.(Ile121Thr) - - NA g.97934413A>G - chr9_97934413_A_G - FANCC_000333 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/. 1 - c.362_363del r.(?) p.(Ile121Thrfs*7) - - pathogenic g.97934415_97934416del - FANCC(NM_000136.2):c.362_363delTA (p.I121Tfs*7) - FANCC_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4 c.377_378del r.(?) p.(Arg126IlefsTer2) FA - pathogenic (recessive) g.97934398_97934399del g.95172116_95172117del - - FANCC_000037 - PubMed: Ameziane 2007 - - Germline ? - - - - Johan de Winter
?/. 1 - c.385A>G r.(?) p.(Lys129Glu) - - NA g.97934390T>C - chr9_97934390_T_C - FANCC_000332 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 5 c.388delinsAAAA r.(?) p.(Glu130delinsLysLys) - - VUS g.97934387delinsTTTT g.95172105delinsTTTT - - FANCC_000068 - Pilonetto DV - HC/UFPR (7/9/2015) - - Germline - - - - - Daniela Pilonetto
?/. 2 - c.391G>A r.(?) p.(Val131Ile) - - NA g.97934384C>T - chr9_97934384_C_T - FANCC_000331 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.395C>G r.(?) p.(Ala132Gly) - - NA g.97934380G>C - chr9_97934380_G_C - FANCC_000330 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 5/53461 controls, 6/60466 cases - - - BRIDGES consortium
?/. 1 - c.406C>G r.(?) p.(Gln136Glu) - - NA g.97934369G>C - chr9_97934369_G_C - FANCC_000329 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.407A>C r.(?) p.(Gln136Pro) - - NA g.97934368T>G - chr9_97934368_T_G - FANCC_000328 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 2/60466 cases - - - BRIDGES consortium
-/., -?/., ?/. 3 4 c.408A>G r.(?) p.(Gln136=) FA - benign, likely benign, VUS g.97934367T>C g.95172085T>C FANCC(NM_000136.2):c.408A>G (p.(=), p.Q136=) - FANCC_000020 VKGL data sharing initiative Nederland PubMed: Gibson 1996 - - CLASSIFICATION record, Germline ? - - - - Arleen D. Auerbach, VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 2 - c.413T>G r.(?) p.(Leu138Arg) - - NA g.97934362A>C - chr9_97934362_A_C - FANCC_000327 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
-?/., ?/. 5 4 c.416G>A r.(?) p.(G139E), p.(Gly139E), p.(Gly139Glu) FA - likely benign, NA, VUS g.97934359C>T g.95172077C>T chr9_97934359_C_T, FANCC(NM_000136.2):c.416G>A (p.(Gly139Glu)) - FANCC_000012 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Verlander 1994, PubMed: Whitney 1993 - - CLASSIFICATION record, Germline ? 15/53461 controls, 20/60466 cases - - - Arleen D. Auerbach, VKGL-NL_Leiden, BRIDGES consortium
?/. 1 - c.424C>G r.(?) p.(Pro142Ala) - - NA g.97934351G>C - chr9_97934351_G_C - FANCC_000326 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.427A>G r.(?) p.(Ile143Val) - - NA g.97934348T>C - chr9_97934348_T_C - FANCC_000325 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
-?/. 1 - c.438T>C r.(?) p.(Tyr146=) - - likely benign g.97934337A>G g.95172055A>G FANCC(NM_000136.2):c.438T>C (p.Y146=) - FANCC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.440C>T r.(?) p.(Pro147Leu) - - NA g.97934335G>A - chr9_97934335_G_A - FANCC_000324 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.451A>G r.(?) p.(Lys151Glu) - - NA g.97934324T>C - chr9_97934324_T_C - FANCC_000323 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.451A>T r.(?) p.(Lys151*) - - NA g.97934324T>A - chr9_97934324_T_A - FANCC_000322 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.455dup r.(?) p.(Asn152Lysfs*9) - - NA g.97934324dup - chr9_97934319_A_AT - FANCC_000027 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.454A>T r.(?) p.(Asn152Tyr) - - NA g.97934321T>A - chr9_97934321_T_A - FANCC_000321 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
+/. 5 4 c.455dup r.(?) p.(N152Kfs*9) FA - pathogenic (recessive) g.97934324dup g.95172042dup - - FANCC_000027 - PubMed: Ameziane 2007, PubMed: Yates 2005 - - Germline ? - - - - Arleen D. Auerbach, Johan de Winter
+/., +?/. 85 4, 4i c.456+4A>T r.(spl?), r.spl, r.spl? p.(G116_N152del), p.(Gly116_Asn152del), p.? FA - likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.97934315T>A g.95172033T>A IVS4+4A>T - FANCC_000007 - Pilonetto DV - HC/UFPR (07/08/2016), PubMed: Tsangaris 2011, PubMed: Whitney 1993 - - Germline ? - - - - Johan den Dunnen, Arleen D. Auerbach, Daniela Pilonetto
?/. 1 - c.457-1G>A r.spl? p.? - - NA g.97933426C>T - chr9_97933426_C_T - FANCC_000319 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.457-1G>C r.spl? p.? - - NA g.97933426C>G - chr9_97933426_C_G - FANCC_000320 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.457A>G r.(?) p.(Met153Val) - - NA g.97933425T>C - chr9_97933425_T_C - FANCC_000318 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.465A>T r.(?) p.(Leu155Phe) - - NA g.97933417T>A - chr9_97933417_T_A - FANCC_000317 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/. 1 4 c.467del r.(?) p.(Ser156fs*) FA - pathogenic (recessive) g.97933415del g.95171133del - - FANCC_000061 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - - - Johan de Winter
?/. 2 - c.469T>A r.(?) p.(Leu157Ile) - - NA g.97933413A>T - chr9_97933413_A_T - FANCC_000316 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 4/60466 cases - - - BRIDGES consortium
?/. 2 - c.472G>C r.(?) p.(Ala158Pro) - - NA g.97933410C>G - chr9_97933410_C_G - FANCC_000315 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 5/60466 cases - - - BRIDGES consortium
?/. 1 - c.473C>T r.(?) p.(Ala158Val) - - NA g.97933409G>A - chr9_97933409_G_A - FANCC_000314 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »