Unique variants in the FANCD2 gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_001018115.1 transcript reference sequence.

114 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     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.2T>C r.2u>c p.0? FA - pathogenic (recessive) g.10070343T>C g.10028659T>C - - FANCD2_000021 aberrant splicing PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.28T>C r.(?) p.(Ser10Pro) - - likely benign g.10070369T>C g.10028685T>C FANCD2(NM_001319984.1):c.28T>C (p.S10P) - FANCD2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.33G>A r.(?) p.(Glu11=) - - likely benign g.10070374G>A g.10028690G>A FANCD2(NM_033084.3):c.33G>A (p.E11=) - FANCD2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.58G>A r.(?) p.(Ala20Thr) - - likely benign g.10070399G>A g.10028715G>A FANCD2(NM_001018115.1):c.58G>A (p.(Ala20Thr)) - FANCD2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.64+12G>C r.(=) p.(=) - - benign, likely benign g.10070417G>C g.10028733G>C FANCD2(NM_001018115.1):c.64+12G>C (p.(=)), FANCD2(NM_033084.3):c.64+12G>C - FANCD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/+ 1 1i_17i c.(64+1_65-1)_(1545+1_1546-1)del r.(?) p.? FA - pathogenic (recessive) g.(10070406_10074515)_(10091190_10094070)del - g.10048249_10066749del18501 - FANCD2_000040 - PubMed: Flynn EK 2014 - - Unknown - - - - - Arleen D. Auerbach
-?/. 3 - c.78A>C r.(?) p.(Gln26His) - - likely benign g.10074529A>C g.10032845A>C FANCD2(NM_001018115.1):c.78A>C (p.(Gln26His)), FANCD2(NM_033084.3):c.78A>C (p.Q26H) - FANCD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.182C>T r.(?) p.(Thr61Met) - - likely benign g.10074633C>T g.10032949C>T - - FANCD2_000116 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35110529 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.195G>C r.(?) p.(Gln65His) - - likely benign g.10074646G>C g.10032962G>C FANCD2(NM_001018115.1):c.195G>C (p.(Gln65His)) - FANCD2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.205+9T>G r.(=) p.(=) - - likely benign g.10074665T>G - FANCD2(NM_001018115.1):c.205+9T>G (p.(=)) - FANCD2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 3i c.206-2A>T r.206_273del68 p.Ala69Aspfs*7 FA - pathogenic (recessive) g.10076151A>T g.10034467A>T - - FANCD2_000012 Similar to mutation reported in Timmers et al, 2001 except breakpoints are defined PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 5 4i c.274-57_274-56(ins298) r.274_377del104 p.Ile92Tyrfs*7 FA - pathogenic (recessive) g.10076322_10076323(ins298) g.10076322_10076323(ins298) - - FANCD2_000017 1 more item PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 5 5 c.376A>G r.(?), r.[376a>g, 377_378ins34] p.(Ser126Gly), p.[Ser126Gly, ?] FA - pathogenic (recessive) g.10076481A>G g.10034797A>G - - FANCD2_000001 Kalb et al, 2007 reports p.H1229EfsX7 as the effect of this mutation PubMed: Kalb 2007, PubMed: Timmers 2001 - - Unknown ? - - - - Arleen D. Auerbach
-/. 1 - c.378-6_378-5del r.spl? p.? - - benign g.10076851_10076852del g.10035167_10035168del FANCD2(NM_033084.3):c.378-6_378-5delTT - FANCD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 7i c.491+1G>A r.(?) p.? FA - VUS g.10078024G>A g.10036340G>A - - FANCD2_000037 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
-/., -?/. 2 - c.516A>G r.(?) p.(Ile172Met) - - benign, likely benign g.10080987A>G g.10039303A>G FANCD2(NM_001018115.1):c.516A>G (p.(Ile172Met)), FANCD2(NM_033084.3):c.516A>G (p.I172M) - FANCD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 3 - c.577A>G r.(?) p.(Thr193Ala) - - likely benign g.10081411A>G g.10039727A>G FANCD2(NM_001018115.1):c.577A>G (p.(Thr193Ala)) - FANCD2_000047 206 heterozygous; Clinindb (India), 7 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs34936017 CLASSIFICATION record, Germline - 206/2793 individuals, 7/2793 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
+/. 1 9 c.692T>G r.692u>g p.Leu231Arg FA - pathogenic (recessive) g.10081526T>G g.10039842T>G - - FANCD2_000026 - PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+?/. 1 - c.695_695+5del r.spl? p.? - - likely pathogenic g.10081529_10081534del g.10039845_10039850del FANCD2(NM_001319984.1):c.694_695+4delAGGTGG - FANCD2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.695+16G>C r.(=) p.(=) - - benign g.10081545G>C g.10039861G>C FANCD2(NM_033084.3):c.695+16G>C - FANCD2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 9i c.696-121C>G r.695+1619_696-126ins34 p.Ser232insQNNF* FA - pathogenic (recessive) g.10083186C>G g.10041502C>G - - FANCD2_000027 exonization PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 1 9i c.696-2A>T r.696_783del88 p.Ser232Argfs*6 FA - pathogenic (recessive) g.10083305A>T g.10041621A>T - - FANCD2_000028 exon 10 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 2 10 c.757C>T r.757c>u p.Arg253* FA - pathogenic (recessive) g.10083368C>T g.10041684C>T - - FANCD2_000029 - PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
?/. 1 - c.776T>C r.(?) p.(Leu259Pro) - - VUS g.10083387T>C g.10041703T>C FANCD2(NM_033084.3):c.776T>C (p.L259P) - FANCD2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 10 c.782A>T r.696_783del, r.696_783del88 p.Ser232Argfs*6 FA - pathogenic (recessive) g.10083393A>T g.10041709A>T - - FANCD2_000030 exon 10 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
-/. 1 - c.784-19C>T r.(=) p.(=) - - benign g.10084224C>T g.10042540C>T FANCD2(NM_033084.3):c.784-19C>T - FANCD2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 10i_14i c.(783+1_784-1)_(1134+1_1135-1)dup r.784_1134dup p.Val262_Lys378dup FA - pathogenic (recessive) g.(10083395_10084242)_(10085549_10088263)dup g.(10041711_10042558)_(10043865_10046579)dup g.13377_17458dup4082 - FANCD2_000033 reported to affect exons 11-14 (accession ENSG00000144554) PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 1 - c.790C>T r.(?) p.(Gln264Ter) - - pathogenic g.10084249C>T g.10042565C>T - - FANCD2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 11 c.813_815del r.810_812delguc p.Ser271del FA - pathogenic (recessive) g.10084272_10084274del g.10042588_10042590del - - FANCD2_000031 exon 22 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 2 12 c.904C>T r.904c>u p.Arg302Trp FA - pathogenic (recessive) g.10084749C>T g.10043065C>T - - FANCD2_000003 - PubMed: Kalb 2007, PubMed: Timmers 2001 - - Unknown ? - - - - Arleen D. Auerbach
+/. 1 12 c.958C>T r.(?) p.(Gln320*) FA - pathogenic (recessive) g.10084803C>T g.10043119C>T - - FANCD2_000004 - PubMed: Timmers 2001 - - Unknown ? - - - - Arleen D. Auerbach
+/., ?/. 2 12i c.990-1G>A r.990_997del8 p.Ser330Argfs*16 FA - pathogenic (recessive), VUS g.10085167G>A g.10043483G>A - - FANCD2_000032 exon 22 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
?/. 1 - c.1015G>A r.(?) p.(Gly339Ser) - - VUS g.10085193G>A g.10043509G>A FANCD2(NM_001018115.1):c.1015G>A (p.(Gly339Ser)) - FANCD2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 13 c.1092G>A r.1092g>a p.Trp364* FA - pathogenic (recessive) g.10085270G>A g.10043586G>A - - FANCD2_000006 - PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.1098+4A>G r.spl? p.? - - likely benign g.10085280A>G g.10043596A>G - - FANCD2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1122A>G r.(?) p.(Val374=) - - benign g.10085536A>G g.10043852A>G FANCD2(NM_033084.3):c.1122A>G (p.V374=) - FANCD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1137G>T r.(?) p.(Val379=) - - likely benign g.10088266G>T g.10046582G>T FANCD2(NM_033084.3):c.1137G>T (p.V379=) - FANCD2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1156T>G r.(?) p.(Phe386Val) - - benign g.10088285T>G g.10046601T>G FANCD2(NM_033084.3):c.1156T>G (p.F386V) - FANCD2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1179T>C r.(?) p.(Thr393=) - - benign g.10088308T>C g.10046624T>C FANCD2(NM_033084.3):c.1179T>C (p.T393=) - FANCD2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1214A>G r.(?) p.(Asn405Ser) - - benign g.10088343A>G g.10046659A>G FANCD2(NM_033084.3):c.1214A>G (p.N405S) - FANCD2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1247T>C r.(?) p.(Leu416Pro) - - VUS g.10088376T>C g.10046692T>C FANCD2(NM_033084.3):c.1247T>C (p.L416P) - FANCD2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1265C>G r.(?) p.(Ser422Cys) - - VUS g.10088394C>G g.10046710C>G FANCD2(NM_001018115.1):c.1265C>G (p.(Ser422Cys)) - FANCD2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 3 - c.1275C>T r.(?) p.(Tyr425=) - - benign, likely benign g.10088404C>T g.10046720C>T FANCD2(NM_001018115.1):c.1275C>T (p.(=)), FANCD2(NM_033084.3):c.1275C>T (p.Y425=) - FANCD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.1278+1del r.spl? p.? - - VUS g.10088408del g.10046724del FANCD2(NM_001018115.1):c.1278+1del (p.?) - FANCD2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.1278+3_1278+5del r.spl? p.? - - benign, likely benign g.10088410_10088412del g.10046726_10046728del FANCD2(NM_001018115.1):c.1278+3_1278+5del (p.?), FANCD2(NM_033084.3):c.1278+3_1278+5delAAG - FANCD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
-?/. 1 - c.1278+3_1278+6del r.spl? p.? - - likely benign g.10088410_10088413del g.10046726_10046729del FANCD2(NM_033084.3):c.1278_1278+3delAGTA - FANCD2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1278+5G>T r.spl? p.? - - VUS g.10088412G>T g.10046728G>T FANCD2(NM_033084.3):c.1278+5G>T - FANCD2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 15i c.1278+6T>C r.(?) p.(=) FA - VUS g.10088413T>C g.10046729T>C - - FANCD2_000034 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
-/. 1 - c.1278+15C>T r.(=) p.(=) - - benign g.10088422C>T g.10046738C>T FANCD2(NM_033084.3):c.1278+15C>T - FANCD2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 16 c.1279G>T r.(?) p.(Val427Phe) FA - VUS g.10089601G>T g.10047917G>T - - FANCD2_000036 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.1292T>C r.(?) p.(Met431Thr) - - likely benign g.10089614T>C g.10047930T>C FANCD2(NM_033084.3):c.1292T>C (p.M431T) - FANCD2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 16 c.1321_1322del r.1135_1545del411 p.Val379_Lys515del FA - pathogenic (recessive) g.10089643_10089644del g.10047959_10047960del - - FANCD2_000007 exon 10 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.1332C>T r.(?) p.(His444=) - - likely benign g.10089654C>T g.10047970C>T FANCD2(NM_033084.3):c.1332C>T (p.H444=) - FANCD2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.1348A>G r.(?) p.(Ile450Val) - - likely benign g.10089670A>G g.10047986A>G FANCD2(NM_001018115.1):c.1348A>G (p.(Ile450Val)), FANCD2(NM_033084.3):c.1348A>G (p.I450V) - FANCD2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., -/., -?/. 4 16 c.1367T>G r.(?), r.1367u>g p.(Leu456Arg), p.Leu456Arg FA - benign, likely benign, pathogenic (recessive) g.10089689T>G g.10048005T>G FANCD2(NM_001018115.1):c.1367T>G (p.(Leu456Arg)), FANCD2(NM_033084.3):c.1367T>G (p.L456R) - FANCD2_000008 VKGL data sharing initiative Nederland PubMed: Kalb 2007 - - CLASSIFICATION record, Unknown ? - - - - Arleen D. Auerbach, VKGL-NL_Leiden, VKGL-NL_VUmc
+/. 1 16 c.1370T>C r.1370u>c p.Leu457Pro FA - pathogenic (recessive) g.10089692T>C g.10048008T>C - - FANCD2_000009 exon 10 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
-/., -?/. 2 - c.1401G>A r.(?) p.(Thr467=) - - benign, likely benign g.10089723G>A g.10048039G>A FANCD2(NM_033084.3):c.1401G>A (p.T467=) - FANCD2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.1413+3A>G r.spl? p.? - - benign g.10089738A>G g.10048054A>G FANCD2(NM_033084.3):c.1413+3A>G - FANCD2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1413+14T>C r.(=) p.(=) - - benign g.10089749T>C g.10048065T>C FANCD2(NM_033084.3):c.1413+14T>C - FANCD2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 17 c.1414-69_1545+258del r.1414_1545del132 p.Glu472_Lys515del FA - pathogenic (recessive) g.10090989_10091447del g.10049305_10049763del - - FANCD2_000005 Similar to mutation reported in Timmers et al, 2001 except breakpoints are defined PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.1414-9C>T r.(=) p.(=) - - likely benign g.10091049C>T g.10049365C>T FANCD2(NM_033084.3):c.1414-9C>T - FANCD2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 17 c.(1413+1_1414-1)_(1545+1_1546-1)del r.1414_1545del p.? FA - pathogenic (recessive) g.(10089736_10091057)_(10091190_10094070)del g.(10048052_10049373)_(10049506_10052386)del - - FANCD2_000000 - PubMed: Timmers 2001 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.1440T>C r.(?) p.(His480=) - - likely benign g.10091084T>C g.10049400T>C FANCD2(NM_033084.3):c.1440T>C (p.H480=) - FANCD2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1466_1467del r.(?) p.(Val489GlyfsTer34) - - pathogenic g.10091110_10091111del g.10049426_10049427del FANCD2(NM_033084.3):c.1466_1467delTT (p.V489Gfs*34) - FANCD2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1509C>T r.(?) p.(Asn503=) - - benign g.10091153C>T - FANCD2(NM_001018115.1):c.1509C>T (p.(=)) - FANCD2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, ?/. 2 17i_18i, 18 c.(1545+1_1546-1)_(1656+1_1657-1)del r.(?) p.? FA - pathogenic (recessive), VUS g.(10091190_10094070)_(10094182_10101977)del - g.10066800_10071613del4814 - FANCD2_000035 delEx18, breakpoints pending PubMed: Chandrasekharappa 2013, PubMed: Flynn EK 2014 - - Unknown ? - - - - Arleen D. Auerbach
-?/. 1 - c.1634A>G r.(?) p.(Asn545Ser) - - likely benign g.10094159A>G g.10052475A>G FANCD2(NM_033084.3):c.1634A>G (p.N545S) - FANCD2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1671G>A r.(?) p.(Leu557=) - - likely benign g.10101992G>A g.10060308G>A FANCD2(NM_033084.3):c.1671G>A (p.L557=) - FANCD2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.1777C>T r.(?) p.(Pro593Ser) - - likely benign g.10103845C>T g.10062161C>T FANCD2(NM_001018115.1):c.1777C>T (p.(Pro593Ser)), FANCD2(NM_001319984.1):c.1777C>T (p.P593S) - FANCD2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1809C>T r.(?) p.(Ser603=) - - likely benign g.10103877C>T g.10062193C>T FANCD2(NM_033084.3):c.1809C>T (p.S603=) - FANCD2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1868A>C r.(?) p.(Gln623Pro) - - benign, likely benign g.10105516A>C g.10063832A>C FANCD2(NM_001018115.1):c.1868A>C (p.(Gln623Pro)), FANCD2(NM_033084.3):c.1868A>C (p.Q623P) - FANCD2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.1917C>A r.(?) p.(Ile639=) - - likely benign g.10105565C>A g.10063881C>A FANCD2(NM_033084.3):c.1917C>A (p.I639=) - FANCD2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1922A>G r.(?) p.(His641Arg) - - likely benign g.10105570A>G g.10063886A>G FANCD2(NM_033084.3):c.1922A>G (p.H641R) - FANCD2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 12 21i c.1948-16T>G r.1948_2021del74 p.Glu650* FA - pathogenic (recessive) g.10106024T>G g.10064340T>G - - FANCD2_000010 exon 22 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/., +?/. 6 21i c.1948-6C>A r.(=), r.1948_2021del74 p.(=), p.Glu650* FA - likely pathogenic, pathogenic (recessive) g.10106034C>A g.10064350C>A - - FANCD2_000011 exon 22 skipping, VKGL data sharing initiative Nederland PubMed: Kalb 2007 - - CLASSIFICATION record, Unknown ? - - - - Arleen D. Auerbach, VKGL-NL_Nijmegen
?/. 1 - c.1964C>T r.(?) p.(Thr655Ile) - - VUS g.10106056C>T g.10064372C>T FANCD2(NM_001018115.1):c.1964C>T (p.(Thr655Ile)) - FANCD2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.2022-5C>T r.spl? p.? - - likely benign g.10106408C>T g.10064724C>T FANCD2(NM_001018115.1):c.2022-5C>T (p.?), FANCD2(NM_033084.3):c.2022-5C>T - FANCD2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc
-/., -?/. 2 - c.2124T>C r.(?) p.(Phe708=) - - benign, likely benign g.10106515T>C g.10064831T>C FANCD2(NM_001018115.1):c.2124T>C (p.(=)), FANCD2(NM_033084.3):c.2124T>C (p.F708=) - FANCD2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 - c.2141C>T r.(?) p.(Pro714Leu) - - benign g.10106532C>T g.10064848C>T FANCD2(NM_033084.3):c.2141C>T (p.P714L) - FANCD2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.2148C>G r.(?) p.(Thr716=) - - benign g.10106539C>G g.10064855C>G FANCD2(NM_001018115.1):c.2148C>G (p.(=)), FANCD2(NM_033084.3):c.2148C>G (p.T716=) - FANCD2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/. 1 - c.2158dup r.(?) p.(Ser720PhefsTer27) - - pathogenic g.10106549dup g.10064865dup FANCD2(NM_033084.3):c.2158dupT (p.S720Ffs*27) - FANCD2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2180C>T r.(?) p.(Pro727Leu) - - VUS g.10107089C>T g.10065405C>T FANCD2(NM_033084.3):c.2180C>T (p.P727L) - FANCD2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2181G>A r.(?) p.(Pro727=) - - likely benign g.10107090G>A g.10065406G>A FANCD2(NM_001319984.1):c.2181G>A (p.P727=) - FANCD2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.2269+1G>A r.spl? p.? - - likely pathogenic g.10107179G>A - FANCD2(NM_033084.3):c.2269+1G>A - FANCD2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 26 c.2404C>T r.2404c>u p.Gln802* FA - pathogenic (recessive) g.10108911C>T g.10067227C>T - - FANCD2_000013 - PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 9 26 c.2444G>A r.(?), r.2444g>a p.(Arg815Gln), p.Arg815Gln FA - pathogenic, pathogenic (recessive) g.10108951G>A g.10067267G>A FANCD2(NM_033084.3):c.2444G>A (p.R815Q) - FANCD2_000014 aberrant splicing, exon 5 skipping, VKGL data sharing initiative Nederland PubMed: Kalb 2007 - - CLASSIFICATION record, Unknown ? - - - - Arleen D. Auerbach, VKGL-NL_Groningen
+/. 1 28 c.2661del r.2661dela p.Glu888Argfs*16 FA - pathogenic (recessive) g.10114992del g.10073308del - - FANCD2_000015 exon 22 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
-/., -?/. 4 - c.2702G>T r.(?) p.(Gly901Val) - - benign, likely benign g.10115033G>T g.10073349G>T FANCD2(NM_001018115.1):c.2702G>T (p.(Gly901Val)), FANCD2(NM_033084.3):c.2702G>T (p.G901V) - FANCD2_000085 1 homozygous; Clinindb (India), 18 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs35495399 CLASSIFICATION record, Germline - 1/2782 individuals, 18/2782 individuals - - - VKGL-NL_Leiden, VKGL-NL_VUmc, Mohammed Faruq
-/., -?/. 2 - c.2712C>T r.(?) p.(Asn904=) - - benign, likely benign g.10115043C>T g.10073359C>T FANCD2(NM_001018115.1):c.2712C>T (p.(=)), FANCD2(NM_033084.3):c.2712C>T (p.N904=) - FANCD2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
?/. 1 - c.2713A>C r.(?) p.(Lys905Gln) - - VUS g.10115044A>C g.10073360A>C FANCD2(NM_033084.3):c.2713A>C (p.K905Q) - FANCD2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 3 28i c.2715+1G>A r.2715_2716ins27, r.spl? p.?, p.Glu906Leufs*4 FA - pathogenic, pathogenic (recessive) g.10115047G>A g.10073363G>A FANCD2(NM_033084.3):c.2715+1G>A (p.?) - FANCD2_000016 aberrant splicing, exon 22 skipping, VKGL data sharing initiative Nederland PubMed: Kalb 2007 - - CLASSIFICATION record, Unknown ? - - - - Arleen D. Auerbach, VKGL-NL_Leiden
+/. 2 29 c.2775_2776delinsTT r.2775_2776delccinsuu p.Arg926* FA - pathogenic (recessive) g.10116273_10116274delinsTT g.10074589_10074590delinsTT - - FANCD2_000019 exon 22 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 1 29 c.2835dup r.2835dupc p.Asp947Argfs*3 FA - pathogenic (recessive) g.10116333dup g.10074649dup - - FANCD2_000020 Aberrant splicing. Timmers et al, 2001 reports p.R1236H as the effect of this mutation. PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
+/. 1 - c.2917_2918del r.(?) p.(Ser973Profs*52) - - pathogenic g.10119822_10119823del g.10078138_10078139del 2917_2918delTC - FANCD2_000099 - PubMed: Fostira 2020 - - Germline - - - - - Florentia Fostira
-?/. 1 - c.2965C>G r.(?) p.(Pro989Ala) - - likely benign g.10119870C>G g.10078186C>G FANCD2(NM_001018115.1):c.2965C>G (p.(Pro989Ala)) - FANCD2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.3105+15C>T r.(=) p.(=) - - benign g.10122927C>T g.10081243C>T FANCD2(NM_033084.3):c.3105+15C>T - FANCD2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.3155T>A r.(?) p.(Val1052Asp) - ACMG likely pathogenic g.10123079T>A g.10081395T>A - - FANCD2_000117 ACMG: PVS1,PM2 - - - Germline - - - - - Andreas Laner
+?/. 1 - c.3156_3157insGGAC r.(?) p.(Gln1053Glyfs*31) - ACMG likely pathogenic g.10123080_10123081insGGAC g.10081396_10081397insGGAC - - FANCD2_000118 ACMG: PVS1,PM2 - - - Germline - - - - - Andreas Laner
+/. 1 - c.3412_3413del r.(?) p.(Leu1138AspfsTer34) - - pathogenic g.10128894_10128895del g.10087210_10087211del FANCD2(NM_001319984.2):c.3412_3413delTT (p.L1138Dfs*34) - FANCD2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 34 c.3453_3456del r.3453_3456delcaaa p.Asn1151Lysfs*46 FA - pathogenic (recessive) g.10128935_10128938del g.10087251_10087254del - - FANCD2_000022 exon 5 skipping PubMed: Kalb 2007 - - Unknown ? - - - - Arleen D. Auerbach
Legend   How to query   « First ‹ Prev     1 2     Next › Last »