Full data view for gene FANCD2

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

262 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.2T>C r.2u>c p.0? FA Parent #1 - pathogenic (recessive) g.10070343T>C g.10028659T>C - - FANCD2_000021 aberrant splicing PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
-?/. - c.28T>C r.(?) p.(Ser10Pro) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Glu11=) - Unknown - likely benign g.10070374G>A g.10028690G>A FANCD2(NM_033084.6):c.33G>A (p.E11=) - FANCD2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58G>A r.(?) p.(Ala20Thr) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64+12G>C r.(=) p.(=) - Unknown - benign g.10070417G>C g.10028733G>C FANCD2(NM_001018115.1):c.64+12G>C (p.(=)), FANCD2(NM_033084.6):c.64+12G>C - FANCD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64+12G>C r.(=) p.(=) - Unknown - likely benign g.10070417G>C - FANCD2(NM_001018115.1):c.64+12G>C (p.(=)), FANCD2(NM_033084.6):c.64+12G>C - FANCD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i_17i c.(64+1_65-1267)_(1545+560_1546-1)del r.? p.? FA Unknown - pathogenic (recessive) g.(10070406_10073249)_(10091749_10094070)del g.(10028722_10031565)_(10050065_10052386)del hg18 10048249-10066749del 18501 - FANCD2_000040 - PubMed: Flynn 2014 - - Unknown - - - - - DNA arrayCGH - - FANCA - - - F ? - - - - - - 1 Arleen D. Auerbach
-?/. - c.78A>C r.(?) p.(Gln26His) - Unknown - 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(NM_033084.6):c.78A>C (p.Q26H) - FANCD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78A>C r.(?) p.(Gln26His) - Unknown - 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(NM_033084.6):c.78A>C (p.Q26H) - FANCD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78A>C r.(?) p.(Gln26His) - Unknown - likely benign g.10074529A>C - FANCD2(NM_001018115.1):c.78A>C (p.(Gln26His)), FANCD2(NM_033084.3):c.78A>C (p.Q26H), FANCD2(NM_033084.6):c.78A>C (p.Q26H) - FANCD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78A>C r.(?) p.(Gln26His) - Unknown - likely benign g.10074529A>C - FANCD2(NM_001018115.1):c.78A>C (p.(Gln26His)), FANCD2(NM_033084.3):c.78A>C (p.Q26H), FANCD2(NM_033084.6):c.78A>C (p.Q26H) - FANCD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.182C>T r.(?) p.(Thr61Met) - Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.182C>T r.(?) p.(Thr61Met) - Unknown - likely benign g.10074633C>T - FANCD2(NM_001319984.1):c.182C>T (p.T61M) - FANCD2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195G>C r.(?) p.(Gln65His) - Unknown - likely benign g.10074646G>C g.10032962G>C FANCD2(NM_001018115.1):c.195G>C (p.(Gln65His)), FANCD2(NM_033084.6):c.195G>C (p.Q65H) - FANCD2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195G>C r.(?) p.(Gln65His) - Unknown - benign g.10074646G>C - FANCD2(NM_001018115.1):c.195G>C (p.(Gln65His)), FANCD2(NM_033084.6):c.195G>C (p.Q65H) - FANCD2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.205+9T>G r.(=) p.(=) - Unknown - likely benign g.10074665T>G - FANCD2(NM_001018115.1):c.205+9T>G (p.(=)) - FANCD2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.206-2A>T r.206_273del68 p.Ala69Aspfs*7 FA Parent #1 - 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 ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 3i c.206-2A>T r.206_273del68 p.Ala69Aspfs*7 FA Parent #1 - 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 ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. - c.206-2A>T r.spl? p.? - Unknown - pathogenic g.10076151A>T - FANCD2(NM_001018115.3):c.206-2A>T - FANCD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.274-57_274-56insN[298] r.274_377del p.Ile92Tyrfs*7 FA Parent #1 - pathogenic (recessive) g.10076322_10076323insN[298] g.10076322_10076323insN[298] - - FANCD2_000017 exon 5 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 4i c.274-57_274-56insN[298] r.274_377del p.Ile92Tyrfs*7 FA Parent #1 - pathogenic (recessive) g.10076322_10076323insN[298] g.10076322_10076323insN[298] - - FANCD2_000017 exon 5 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - patient enrolled in IFAR after Kalb et al, 2007 ? ? - - - - - - 1 Arleen D. Auerbach
+/. 4i c.274-57_274-56insN[298] r.274_377del p.Ile92Tyrfs*7 FA Parent #1 - pathogenic (recessive) g.10076322_10076323insN[298] g.10076322_10076323insN[298] - - FANCD2_000017 exon 5 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 4i c.274-57_274-56insN[298] r.274_377del p.Ile92Tyrfs*7 FA Parent #1 - pathogenic (recessive) g.10076322_10076323insN[298] g.10076322_10076323insN[298] - - FANCD2_000017 exon 5 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 4i c.274-57_274-56insN[298] r.274_377del p.Ile92Tyrfs*7 FA Parent #1 - pathogenic (recessive) g.10076322_10076323insN[298] g.10076322_10076323insN[298] - - FANCD2_000017 exon 5 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. - c.285A>C r.(?) p.(Glu95Asp) - Unknown - VUS g.10076390A>C - FANCD2(NM_001018115.3):c.285A>C (p.(Glu95Asp)) - FANCD2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.376A>G r.(?) p.(Ser126Gly) FA Parent #1 - pathogenic (recessive) g.10076481A>G g.10034797A>G - - FANCD2_000001 - - - - Unknown ? - - - - DNA SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 5 c.376A>G r.(?) p.(Ser126Gly) FA Parent #1 - pathogenic (recessive) g.10076481A>G g.10034797A>G - - FANCD2_000001 - - - - Unknown ? - - - - DNA SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 5 c.376A>G r.[376a>g, 377_378ins34] p.[Ser126Gly, ?] FA Parent #1 - pathogenic (recessive) g.10076481A>G g.10034797A>G - - FANCD2_000001 Kalb et al, 2007 reports p.H1229EfsX7 as the effect of this mutation PubMed: Timmers 2001 - - Unknown ? - - - - DNA SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 5 c.376A>G r.[376a>g, 377_378ins34] p.[Ser126Gly, ?] FA Parent #1 - pathogenic (recessive) g.10076481A>G g.10034797A>G - - FANCD2_000001 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 5 c.376A>G r.[376a>g, 377_378ins34] p.[Ser126Gly, ?] FA Parent #1 - pathogenic (recessive) g.10076481A>G g.10034797A>G - - FANCD2_000001 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
-/. - c.378-6_378-5del r.spl? p.? - Unknown - benign g.10076851_10076852del g.10035167_10035168del FANCD2(NM_033084.6):c.378-6_378-5delTT - FANCD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7i c.491+1G>A r.(?) p.? FA Paternal (confirmed) - VUS g.10078024G>A g.10036340G>A - - FANCD2_000037 - PubMed: Chandrasekharappa 2013 - - Unknown ? - - - - DNA SEQ - - FANCD2 - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
-?/. - c.491+19G>A r.(=) p.(=) - Unknown - likely benign g.10078042G>A - FANCD2(NM_033084.3):c.491+19G>A - FANCD2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.516A>G r.(?) p.(Ile172Met) - Unknown - benign g.10080987A>G g.10039303A>G FANCD2(NM_001018115.1):c.516A>G (p.(Ile172Met)), FANCD2(NM_033084.6):c.516A>G (p.I172M) - FANCD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516A>G r.(?) p.(Ile172Met) - Unknown - likely benign g.10080987A>G g.10039303A>G FANCD2(NM_001018115.1):c.516A>G (p.(Ile172Met)), FANCD2(NM_033084.6):c.516A>G (p.I172M) - FANCD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577A>G r.(?) p.(Thr193Ala) - Unknown - likely benign g.10081411A>G g.10039727A>G FANCD2(NM_001018115.1):c.577A>G (p.(Thr193Ala)) - FANCD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.577A>G r.(?) p.(Thr193Ala) - Parent #1 - likely benign g.10081411A>G g.10039727A>G - - FANCD2_000047 206 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34936017 Germline - 206/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 206 Mohammed Faruq
-?/. - c.577A>G r.(?) p.(Thr193Ala) - Both (homozygous) - likely benign g.10081411A>G g.10039727A>G - - FANCD2_000047 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34936017 Germline - 7/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
+/. 9 c.692T>G r.692u>g p.Leu231Arg FA Parent #1 - pathogenic (recessive) g.10081526T>G g.10039842T>G - - FANCD2_000026 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+?/. - c.695_695+5del r.spl? p.? - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.695+16G>C r.(=) p.(=) - Unknown - benign g.10081545G>C g.10039861G>C FANCD2(NM_033084.6):c.695+16G>C - FANCD2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9i c.696-121C>G r.695+1619_696-126ins34 p.Ser232insQNNF* FA Parent #1 - pathogenic (recessive) g.10083186C>G g.10041502C>G - - FANCD2_000027 exonization PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 9i c.696-121C>G r.695+1619_696-126ins34 p.Ser232insQNNF* FA Parent #2 - pathogenic (recessive) g.10083186C>G g.10041502C>G - - FANCD2_000027 exonization PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 9i c.696-2A>T r.696_783del88 p.Ser232Argfs*6 FA Parent #1 - pathogenic (recessive) g.10083305A>T g.10041621A>T - - FANCD2_000028 exon 10 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 10 c.757C>T r.757c>u p.Arg253* FA Parent #1 - pathogenic (recessive) g.10083368C>T g.10041684C>T - - FANCD2_000029 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 10 c.757C>T r.757c>u p.Arg253* FA Parent #1 - pathogenic (recessive) g.10083368C>T g.10041684C>T - - FANCD2_000029 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. - c.776T>C r.(?) p.(Leu259Pro) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.782A>T r.696_783del88 p.Ser232Argfs*6 FA Parent #1 - pathogenic (recessive) g.10083393A>T g.10041709A>T - - FANCD2_000030 exon 10 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 10 c.782A>T r.696_783del p.Ser232Argfs*6 FA Parent #1 - pathogenic (recessive) g.10083393A>T g.10041709A>T - - FANCD2_000030 exon 10 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
-/. - c.784-19C>T r.(=) p.(=) - Unknown - benign g.10084224C>T g.10042540C>T FANCD2(NM_033084.6):c.784-19C>T - FANCD2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.784-4_784-3del r.spl? p.? - Unknown - likely benign g.10084239_10084240del - FANCD2(NM_001018115.1):c.784-4_784-3delTT (p.?) - FANCD2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i_14i c.(783+1_784-1)_(1134+1_1135-1)dup r.784_1134dup p.Val262_Lys378dup FA Parent #2 - 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 ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. - c.790C>T r.(?) p.(Gln264Ter) - Unknown - pathogenic g.10084249C>T g.10042565C>T - - FANCD2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.813_815del r.810_812delguc p.Ser271del FA Parent #1 - pathogenic (recessive) g.10084272_10084274del g.10042588_10042590del - - FANCD2_000031 exon 22 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 12 c.904C>T r.904c>u p.Arg302Trp FA Parent #1 - pathogenic (recessive) g.10084749C>T g.10043065C>T - - FANCD2_000003 - PubMed: Timmers 2001 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 12 c.904C>T r.904c>u p.Arg302Trp FA Parent #1 - pathogenic (recessive) g.10084749C>T g.10043065C>T - - FANCD2_000003 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 12 c.958C>T r.(?) p.(Gln320*) FA Parent #2 - pathogenic (recessive) g.10084803C>T g.10043119C>T - - FANCD2_000004 - PubMed: Timmers 2001 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 12i c.990-1G>A r.990_997del8 p.Ser330Argfs*16 FA Parent #1 - pathogenic (recessive) g.10085167G>A g.10043483G>A - - FANCD2_000032 exon 22 skipping PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 12i c.990-1G>A r.990_997del8 p.Ser330Argfs*16 FA Maternal (confirmed) - VUS g.10085167G>A g.10043483G>A - - FANCD2_000032 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA SEQ - - FANCD2 - PubMed: Chandrasekharappa 2013 - ? ? - - - - - - 1 Arleen D. Auerbach
?/. - c.1015G>A r.(?) p.(Gly339Ser) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1092G>A r.1092g>a p.Trp364* FA Parent #2 - pathogenic (recessive) g.10085270G>A g.10043586G>A - - FANCD2_000006 - PubMed: Kalb 2007 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ - - FANCD2 - - - ? ? - - - - - - 1 Arleen D. Auerbach
-?/. - c.1098+4A>G r.spl? p.? - Unknown - likely benign g.10085280A>G g.10043596A>G - - FANCD2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1122A>G r.(?) p.(Val374=) - Unknown - benign g.10085536A>G g.10043852A>G FANCD2(NM_033084.6):c.1122A>G (p.V374=) - FANCD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1134+10A>G r.(=) p.(=) - Unknown - likely benign g.10085558A>G - FANCD2(NM_001018115.3):c.1134+10A>G - FANCD2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137G>T r.(?) p.(Val379=) - Unknown - likely benign g.10088266G>T g.10046582G>T FANCD2(NM_001018115.3):c.1137G>T (p.(Val379=)), FANCD2(NM_033084.6):c.1137G>T (p.V379=) - FANCD2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1137G>T r.(?) p.(Val379=) - Unknown - benign g.10088266G>T - FANCD2(NM_001018115.3):c.1137G>T (p.(Val379=)), FANCD2(NM_033084.6):c.1137G>T (p.V379=) - FANCD2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1156T>G r.(?) p.(Phe386Val) - Unknown - benign g.10088285T>G g.10046601T>G FANCD2(NM_033084.6):c.1156T>G (p.F386V) - FANCD2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1170C>T r.(?) p.(Ser390=) - Unknown - benign g.10088299C>T - FANCD2(NM_001018115.3):c.1170C>T (p.(Ser390=)), FANCD2(NM_033084.6):c.1170C>T (p.S390=) - FANCD2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170C>T r.(?) p.(Ser390=) - Unknown - likely benign g.10088299C>T - FANCD2(NM_001018115.3):c.1170C>T (p.(Ser390=)), FANCD2(NM_033084.6):c.1170C>T (p.S390=) - FANCD2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1179T>C r.(?) p.(Thr393=) - Unknown - benign g.10088308T>C g.10046624T>C FANCD2(NM_033084.6):c.1179T>C (p.T393=) - FANCD2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1214A>G r.(?) p.(Asn405Ser) - Unknown - benign g.10088343A>G g.10046659A>G FANCD2(NM_001018115.3):c.1214A>G (p.(Asn405Ser)), FANCD2(NM_033084.6):c.1214A>G (p.N405S) - FANCD2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1214A>G r.(?) p.(Asn405Ser) - Unknown - likely benign g.10088343A>G - FANCD2(NM_001018115.3):c.1214A>G (p.(Asn405Ser)), FANCD2(NM_033084.6):c.1214A>G (p.N405S) - FANCD2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1247T>C r.(?) p.(Leu416Pro) - Unknown - VUS g.10088376T>C g.10046692T>C FANCD2(NM_033084.6):c.1247T>C (p.L416P) - FANCD2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1265C>G r.(?) p.(Ser422Cys) - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275C>T r.(?) p.(Tyr425=) - Unknown - 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(NM_033084.6):c.1275C>T (p.Y425=) - FANCD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1275C>T r.(?) p.(Tyr425=) - Unknown - 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(NM_033084.6):c.1275C>T (p.Y425=) - FANCD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275C>T r.(?) p.(Tyr425=) - Unknown - 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(NM_033084.6):c.1275C>T (p.Y425=) - FANCD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1278del r.spl? p.(?) - Unknown ACMG VUS g.10088407del g.10046726_10046729del - - FANCD2_000138 - - - - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0282 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278del r.spl? p.(?) - Unknown ACMG VUS g.10088407del g.10046726_10046729del - - FANCD2_000138 - - - - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0766 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
?/. - c.1278+1del r.spl? p.? - Unknown - VUS g.10088408del g.10046724del FANCD2(NM_001018115.1):c.1278+1delG (p.?), FANCD2(NM_033084.6):c.1278+1delG - FANCD2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1278+1del r.spl? p.? - Unknown - benign g.10088408del - FANCD2(NM_001018115.1):c.1278+1delG (p.?), FANCD2(NM_033084.6):c.1278+1delG - FANCD2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278+1del r.spl? p.? - Unknown - likely benign g.10088408del - FANCD2(NM_001018115.1):c.1278+1delG (p.?), FANCD2(NM_033084.6):c.1278+1delG - FANCD2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1278+3_1278+5del r.spl? p.? - Unknown - benign g.10088410_10088412del g.10046726_10046728del FANCD2(NM_001018115.1):c.1278+3_1278+5del (p.?), FANCD2(NM_033084.6):c.1278+3_1278+5delAAG - FANCD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278+3_1278+5del r.spl? p.? - Unknown - likely benign g.10088410_10088412del g.10046726_10046728del FANCD2(NM_001018115.1):c.1278+3_1278+5del (p.?), FANCD2(NM_033084.6):c.1278+3_1278+5delAAG - FANCD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1278+3_1278+6del r.spl? p.? - Unknown - VUS g.10088410_10088413del g.10046726_10046729del FANCD2(NM_001319984.1):c.1278_1278+3delAGTA, FANCD2(NM_033084.3):c.1278_1278+3delAGTA - FANCD2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon IMSS25-072-17 - - ? - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del - - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0019 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0131 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0200 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0203 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0218 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0260 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 - Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0293 - - F - Mexico - - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0446_S19 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0449_S13 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0506_S20 - - ? - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0706 - - F - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0726_S15 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0745_S17 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
+/. - c.1278+3_1278+6del r.spl? p.? - Unknown ACMG VUS g.10088410_10088413del g.10046726_10046729del Leu426_Glu15splice - FANCD2_000138 - - 218823 rs369823368 Germline - - - - - DNA SEQ-NG-I Blood TruSight Cancer Sequencing Panel cancer, colon MXCCR0774 - - M - Mexico Mexican - - - - 1 Leticia Angélica Barraza Arellano
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