Full data view for gene TFR2

Information The variants shown are described using the NM_003227.3 transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
-?/. - c.-6003C>T r.(?) p.(=) Unknown - likely benign g.100245135G>A g.100647512G>A ACTL6B(NM_016188.4):c.691C>T (p.(Pro231Ser)) - ACTL6B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5970C>T r.(?) p.(=) Unknown - VUS g.100245102G>A g.100647479G>A - - ACTL6B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5575G>A r.(?) p.(=) Unknown - VUS g.100244707C>T - ACTL6B(NM_016188.4):c.823G>A (p.(Val275Met)) - ACTL6B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5546C>T r.(?) p.(=) Unknown - benign g.100244678G>A - ACTL6B(NM_016188.5):c.852C>T (p.Y284=) - ACTL6B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5246G>T r.(?) p.(=) Unknown - VUS g.100244378C>A g.100646755C>A - - ACTL6B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5128G>A r.(?) p.(=) Unknown - VUS g.100244260C>T g.100646637C>T - - ACTL6B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4805G>A r.(?) p.(=) Unknown - VUS g.100243937C>T - ACTL6B(NM_016188.5):c.1135G>A (p.A379T) - ACTL6B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1804A>T r.(?) p.(=) Unknown - VUS g.100240936T>A - ACTL6B(NM_016188.4):c.1214A>T (p.(Gln405Leu)) - ACTL6B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1751C>T r.(?) p.(=) Unknown - pathogenic g.100240883G>A - ACTL6B(NM_016188.5):c.1267C>T (p.R423*) - ACTL6B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.64G>A r.(?) p.(Val22Ile) Parent #1 - VUS g.100238821C>T g.100641198C>T - - TFR2_000026 - PubMed: Biasiotto 2003 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
?/. 2 c.64G>A r.(?) p.(Val22Ile) Parent #1 - VUS g.100238821C>T g.100641198C>T - - TFR2_000026 - PubMed: Biasiotto 2003 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
?/. 2 c.64G>A r.(?) p.(Val22Ile) Parent #1 - VUS g.100238821C>T g.100641198C>T - - TFR2_000026 - PubMed: Biasiotto 2003 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
+/. 2 c.88dup r.(?) p.(Arg30Profs*31) Unknown - likely pathogenic g.100238801dup g.100641178dup 88_89insC - TFR2_000012 - - - rs80338877 Germline yes - - - - DNA SEQ Blood - HFE3 - - - F no Chile Chilean - - - - 1 Giulia Ravasi
+/. 2 c.88dup r.88dup p.Arg30Profs*31 Both (homozygous) - pathogenic g.100238801dup g.100641178dup 84-88insC - TFR2_000012 homozygosity mapping; not in 100 control chromosomes PubMed: Roetto 2001, Journal: Roetto 2001, OMIM:var0002 - rs80338877 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - HFE3 - PubMed: Roetto 2001, Journal: Roetto 2001 6-generation family, 6 affecteds, (2F, 4M), 6 unaffected heterozygous carriers - yes Italy Italian, south, Campania - - - - 6 Johan den Dunnen
-?/. 2 c.97C>A r.(?) p.(His33Asn) Parent #1 - likely benign g.100238788G>T g.100641165G>T - - TFR2_000028 - PubMed: Biasiotto 2008 - - Unknown - 1/50 controls - - - DNA DHPLC, SEQ - - ? - PubMed: Biasiotto 2008 50 controls - ? Italy - - - - - 50 Johan den Dunnen
?/. - c.109G>A r.(?) p.(Glu37Lys) Unknown - VUS g.100238776C>T g.100641153C>T TFR2(NM_003227.3):c.109G>A (p.(Glu37Lys)) - ACTL6B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.178G>T r.(?) p.(Glu60*) Parent #1 - pathogenic g.100238707C>A g.100641084C>A - - TFR2_000048 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
-/. 2 c.224C>T r.(?) p.(Ala75Val) Parent #1 - benign g.100238661G>A g.100641038G>A - - TFR2_000005 - PubMed: Mattman 2002 - - Unknown - 1/89 cases - - - DNA PCR, SEQ - - HFE1 - PubMed: Mattman 2002 89 iron overload patients, non-HFE:C282Y - ? Canada - - - - - 89 Johan den Dunnen
?/. - c.235C>T r.(?) p.(Arg79Trp) Unknown - VUS g.100238650G>A g.100641027G>A TFR2(NM_003227.4):c.235C>T (p.R79W) - TFR2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2_2i c.254_286+9del r.spl p.(Leu85_Ala96delinsPro) Parent #1 - pathogenic g.100238592_100238633del g.100640969_100641010del - - TFR2_000055 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat4 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
?/. 3i c.286+10G>A r.(=) p.(=) Parent #1 - VUS g.100238589C>T g.100640966C>T IVS3+10G>A - TFR2_000029 - PubMed: Biasiotto 2003 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
?/. 3i c.286+15C>T r.(=) p.(=) Parent #1 - VUS g.100238584G>A g.100640961G>A IVS3+15C>T - TFR2_000030 - PubMed: Biasiotto 2003 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
-/. 2i c.286+15C>T r.(?) p.(=) Parent #1 - benign g.100238584G>A g.100640961G>A 241+15C>T / IVS2+15C>T - TFR2_000030 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
-/. 3 c.295C>G r.(?) p.(Leu99Val) Parent #1 - benign g.100238487G>C g.100640864G>C - - TFR2_000052 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.313C>T r.(?) p.(Arg105*) Both (homozygous) - pathogenic g.100238469G>A g.100640846G>A - - TFR2_000025 - PubMed: Le Gac 2004 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Le Gac 2004 2-generation famil, affected brother/sister - yes France French, north - - - - 1 Johan den Dunnen
+/. 3 c.313C>T r.(?) p.(Arg105*) Parent #1 - pathogenic g.100238469G>A g.100640846G>A - - TFR2_000025 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.447G>A r.(?) p.(Gly149=) Unknown - likely benign g.100238335C>T g.100640712C>T TFR2(NM_003227.4):c.447G>A (p.G149=) - TFR2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.473+49C>A r.(?) p.(=) Parent #1 - benign g.100238260G>T g.100640637G>T IVS3+49C>A - TFR2_000027 - PubMed: Biasiotto 2008 - - Unknown - 1/50 controls - - - DNA DHPLC, SEQ - - ? - PubMed: Biasiotto 2008 50 controls - ? Italy - - - - - 50 Johan den Dunnen
+/. 4 c.515T>A r.515u>a p.Met172Lys Both (homozygous) - pathogenic g.100231138A>T g.100633515A>T - - TFR2_000013 - PubMed: Roetto 2001, Journal: Roetto 2001, OMIM:var0003 - rs80338877 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - HFE3 - PubMed: Roetto 2001, Journal: Roetto 2001 3-generation family, 1 affected, unaffected heterozygous carriers - ? Italy Italian, central, Lazio - - - - 1 Johan den Dunnen
+/. 4 c.515T>A r.(?) p.(Met172Lys) Both (homozygous) - pathogenic g.100231138A>T g.100633515A>T - - TFR2_000013 not in 400 control chromosomes PubMed: Majore 2006 - - Germline yes - - - - DNA SEQ - - HFE 16923517-Pats PubMed: Majore 2006 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Italy Italy, central (Abruzzo) - - - - 2 Johan den Dunnen
+/. 4 c.515T>A r.(?) p.(Met172Lys) Parent #1 - pathogenic g.100231138A>T g.100633515A>T - - TFR2_000013 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
+?/. 4 c.565G>A r.(?) p.(Asp189Asn) Parent #1 - likely pathogenic g.100231088C>T g.100633465C>T - - TFR2_000060 - PubMed: Barton 2008, Journal: Barton 2008 - - Germline - - - - - DNA SEQ - - HFE 17726683-Pat PubMed: Barton 2008, Journal: Barton 2008 - F - United States native American;white - - - - 1 Johan den Dunnen
+/+ 4i c.614+4A>G r.474_614del p.Gln159_Pro205del Both (homozygous) - pathogenic g.100231035T>C g.100633412T>C - - TFR2_000003 - PubMed: Pelucchi 2009, Journal: Pelucchi 2009 - - Unknown - - BsaJI;BtgI - - DNA, RNA RT-PCR, SEQ - - HFE1 HC_00002 PubMed: Pelucchi 2009, Journal: Pelucchi 2009 - F ? Italy Italian, south, Campania - - - - 1 Dan Yin
+/. 4i c.614+4A>G r.spl p.? Parent #1 - pathogenic g.100231035T>C g.100633412T>C - - TFR2_000003 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
-?/. 5 c.714C>G r.(?) p.(Ile238Met) Parent #1 - likely benign g.100230864G>C g.100633241G>C - - TFR2_000010 - PubMed: Koyama 2005 - - Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Koyama 2005 - - no Japan - - - - - 1 Johan den Dunnen
-/. 5 c.714C>G r.(?) p.(Ile238Met) Parent #1 - benign g.100230864G>C g.100633241G>C - - TFR2_000010 - PubMed: Mendes 2009 - - Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Mendes 2009 - - ? Portugal - - - - - 1 Johan den Dunnen
-/. 5 c.714C>G r.(?) p.(Ile238Met) Parent #1 - benign g.100230864G>C g.100633241G>C - - TFR2_000010 - PubMed: Mattman 2002 - - Unknown - 1/89 cases - - - DNA PCR, SEQ - - HFE1 - PubMed: Mattman 2002 89 iron overload patients, non-HFE:C282Y - ? Canada - - - - - 89 Johan den Dunnen
-?/. 5 c.714C>G r.(?) p.(Ile238Met) Both (homozygous) - likely benign g.100230864G>C g.100633241G>C - - TFR2_000010 - PubMed: Koyama 2005 - - Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Koyama 2005 - - no Japan - - - - - 1 Johan den Dunnen
-/. - c.714C>G r.(?) p.(Ile238Met) Unknown - benign g.100230864G>C g.100633241G>C - - TFR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.727-24G>C r.(=) p.(=) Parent #1 - VUS g.100230770C>G g.100633147C>G IVS5-24G>C - TFR2_000032 - PubMed: Biasiotto 2003 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
?/. 5i c.727-24G>C r.(=) p.(=) Parent #1 - VUS g.100230770C>G g.100633147C>G IVS5-24G>C - TFR2_000032 - PubMed: Biasiotto 2003 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
-/. 5i c.727-24G>C r.(?) p.(=) Parent #1 - benign g.100230770C>G g.100633147C>G - - TFR2_000032 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
?/. 5i c.727-9T>A r.(spl?) p.(?) Parent #1 - VUS g.100230755A>T g.100633132A>T IVS5-9T>A - TFR2_000031 - PubMed: Biasiotto 2003 - - Germline - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 family, 8 affecteds - ? Italy - - - - - 8 Johan den Dunnen
-?/. 5i c.727-9T>A r.(spl?) p.(?) Parent #1 - likely benign g.100230755A>T g.100633132A>T IVS5-9T>A - TFR2_000031 - PubMed: Mendes 2009 - - Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Mendes 2009 - - ? Portugal - - - - - 1 Johan den Dunnen
+/. 6 c.750C>G r.0 p.0 Both (homozygous) - pathogenic g.100230723G>C g.100633100G>C - - TFR2_000011 mapped by linkage, LOD score 4.09; no RNA transcript detected PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001, OMIM:var0001 - rs80338880 Germline yes - MaeI+ - - DNA, RNA RT-PCR, SEQ - - HFE3 - PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001 7-generation family, 6 affecteds, (2F, 4M), unaffected heterozygous carriers - yes Italy Italina, Sicily - - - - 6 Johan den Dunnen
+/. 6 c.750C>G r.0 p.0 Both (homozygous) - pathogenic g.100230723G>C g.100633100G>C - - TFR2_000011 no RNA transcript detected PubMed: Camaschella 2000, Journal: Camaschella 2000, OMIM:var0001 - rs80338880 Germline yes - MaeI+ - - DNA, RNA RT-PCR, SEQ - - HFE3 - PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001 2-generation family, 3 affecteds (2F), unaffected heterozygous carrier parents; PatII3 homozygous for HFE:H63D M ? Italy Italina, Sicily - - - - 3 Johan den Dunnen
+/. 6 c.750C>G r.(?) p.(Tyr250*) Both (homozygous) - pathogenic g.100230723G>C g.100633100G>C - - TFR2_000011 - PubMed: Piperno 2004 - - Germline - - - - - DNA SEQ - - HFE 15020277-Fam1 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - - - - 1 Johan den Dunnen
+/. 6 c.750C>G r.(?) p.(Tyr250*) Both (homozygous) - pathogenic g.100230723G>C g.100633100G>C - - TFR2_000011 - PubMed: Piperno 2004 - - Germline - - - - - DNA SEQ - - HFE 15020277-Fam2 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - - - - 1 Johan den Dunnen
-/. 6 c.829G>C r.(?) p.(Val277Leu) Parent #1 - benign g.100230644C>G g.100633021C>G - - TFR2_000053 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
+?/. 6 c.840C>G r.(?) p.(Phe280Leu) Unknown - likely pathogenic g.100230633G>C g.100633010G>C - - TFR2_000007 - PubMed: Del-Castillo-Rueda 2011 - - Germline - - - - - DNA SEQ Peripheral blood - HFE1 21770687-Pat PubMed: Del-Castillo-Rueda 2011 - M - Portugal - - - - - 1 Mayka Sanchez
?/. 6 c.840C>G r.(?) p.(Phe280Leu) Parent #1 - VUS g.100230633G>C g.100633010G>C - - TFR2_000007 - PubMed: Mendes 2009 - rs151198873 Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Mendes 2009 - - ? Portugal - - - - - 1 Johan den Dunnen
-?/. - c.849+8T>C r.(=) p.(=) Unknown - likely benign g.100230616A>G - TFR2(NM_003227.3):c.849+8T>C - TFR2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850-3C>G r.spl? p.? Unknown - VUS g.100229824G>C - TFR2(NM_003227.3):c.850-3C>G - TFR2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.915C>G r.(?) p.(Ser305=) Unknown - VUS g.100229756G>C g.100632133G>C - - TFR2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.916C>T r.(?) p.(Gln306*) Paternal (confirmed) - pathogenic g.100229755G>A g.100632132G>A - - TFR2_000033 - PubMed: Joshi 2015, Journal: Joshi 2015 - - Germline - - - - - DNA SEQ Peripheral blood - HFE3 26029709_Fam3 PubMed: Joshi 2015, Journal: Joshi 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs M no Spain - - - - - 1 Mayka Sanchez
+/. 7 c.949C>T r.(?) p.(Gln317*) Both (homozygous) - pathogenic g.100229722G>A g.100632099G>A - - TFR2_000022 - PubMed: Pietrangelo 2005 - - Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Pietrangelo 2005 4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars - yes Italy - - - - - 3 Johan den Dunnen
-?/. - c.1094C>T r.(?) p.(Ser365Phe) Unknown - likely benign g.100229441G>A - TFR2(NM_003227.3):c.1094C>T (p.S365F) - TFR2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1098C>T r.(?) p.(=) Unknown - likely benign g.100229437G>A - - - TFR2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1118G>A r.(?) p.(Gly373Asp) Unknown - VUS g.100228664C>T g.100631041C>T - - TFR2_000036 unaffected daughter carries this variant PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - rs202221581 Germline - - - - - DNA SEQ Whole blood - HFE 22890139-Fam1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - F - Spain - - - - - 1 Mayka Sanchez
?/. 9 c.1118G>A r.(?) p.(Gly373Asp) Parent #1 - VUS g.100228664C>T g.100631041C>T - - TFR2_000036 - PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
?/. - c.1118G>A r.(?) p.(Gly373Asp) Unknown - VUS g.100228664C>T g.100631041C>T TFR2(NM_003227.3):c.1118G>A (p.G373D) - TFR2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.1127C>A r.(?) p.(Ala376Asp) Parent #1 - benign g.100228655G>T g.100631032G>T - - TFR2_000023 - PubMed: Mattman 2002 - - Unknown - 3/89 cases - - - DNA PCR, SEQ - - HFE1 - PubMed: Mattman 2002 89 iron overload patients, non-HFE:C282Y - ? Canada - - - - - 89 Johan den Dunnen
?/. 9 c.1127C>A r.(?) p.(Ala376Asp) Maternal (confirmed) - VUS g.100228655G>T g.100631032G>T - - TFR2_000023 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HFE 22890139-Fam2Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 2-generation family, affected father and son M no Spain - - - - - 5 Johan den Dunnen
?/. 9 c.1127C>A r.(?) p.(Ala376Asp) Unknown - VUS g.100228655G>T g.100631032G>T - - TFR2_000023 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control 22890139-Fam2Pat1m PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 mother of Pat1 F - Spain - - - - - 1 Johan den Dunnen
?/. 9 c.1127C>A r.(?) p.(Ala376Asp) Maternal (confirmed) - VUS g.100228655G>T g.100631032G>T - - TFR2_000023 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control 22890139-Fam2Pat1s1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - F - Spain - - - - - 1 Johan den Dunnen
?/. - c.1127C>A r.(?) p.(Ala376Asp) Unknown - VUS g.100228655G>T g.100631032G>T TFR2(NM_003227.4):c.1127C>A (p.A376D) - TFR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1127C>A r.(?) p.(Ala376Asp) Unknown - VUS g.100228655G>T g.100631032G>T TFR2(NM_003227.4):c.1127C>A (p.A376D) - TFR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1186C>T r.(?) p.(Arg396*) Parent #1 - likely pathogenic g.100228596G>A g.100630973G>A - - TFR2_000009 - PubMed: Gerolami 2008, Journal: Gerolami 2008 - - Germline - - - - - DNA SEQ Peripheral blood - HFE3 18450729-Pat PubMed: Gerolami 2008, Journal: Gerolami 2008 - F - Italy - - - - - 2 Mayka Sanchez
+?/. 9 c.1186C>T r.(?) p.(Arg396*) Parent #1 - likely pathogenic g.100228596G>A g.100630973G>A - - TFR2_000009 - PubMed: Lee 2006 - - Unknown ? - CviAII+;FatI+;NlaIII+ - - DNA PCR, SEQ - - HFE3 - PubMed: Lee and Barton 2006 - M - United Kingdom (Great Britain) White of Scottish descent - - - 34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed) 1 Ann Walker
+/. 9 c.1186C>T r.(?) p.(Arg396*) Unknown - pathogenic g.100228596G>A g.100630973G>A - - TFR2_000009 - PubMed: Gerolami 2008 - - Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Gerolami 2008 - F ? Italy - - - - - 1 Johan den Dunnen
+/. 9 c.1235A>T r.(?) p.(Asn412Ile) Both (homozygous) - pathogenic g.100228547T>A g.100630924T>A - - TFR2_000054 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat2 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - M - France - - - - - 1 Johan den Dunnen
+?/. 9 c.1235_1237del r.(?) p.(Asn412del) Unknown - likely pathogenic g.100228550_100228552del g.100630927_100630929del c.1231-3del - TFR2_000021 - PubMed: Biasiotto 2008 - - Germline - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2008 - F ? Italy - - - - - 1 Johan den Dunnen
+?/. 9 c.1259G>A r.(?) p.(Arg420His) Parent #1 - likely pathogenic g.100228523C>T g.100630900C>T - - TFR2_000020 - PubMed: Del Castillo-Rueda 2011 - - Germline - - - - - DNA SEQ - - HFE1 - PubMed: Del Castillo-Rueda 2011 family - ? Spain - - - - - 1 Johan den Dunnen
?/. - c.1259G>A r.(?) p.(Arg420His) Unknown - VUS g.100228523C>T g.100630900C>T - - TFR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1288G>A r.(?) p.(Gly430Arg) Parent #1 - pathogenic g.100226978C>T g.100629355C>T - - TFR2_000042 not in 300 control chromosomes PubMed: Majore 2013 - - Germline - - - - - DNA SEQ - - HFE 22981443-Pat PubMed: Majore 2013 - M - Burundi - - - - - 1 Johan den Dunnen
+/. 10 c.1288G>A r.(?) p.(Gly430Arg) Both (homozygous) - pathogenic g.100226978C>T g.100629355C>T - - TFR2_000042 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat3 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - - France Africa, north - - - - 1 Johan den Dunnen
?/. 10 c.1330G>A r.(?) p.(Ala444Thr) Parent #1 - VUS g.100226936C>T g.100629313C>T - - TFR2_000019 - PubMed: Biasiotto 2008 - - Unknown - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2008 - F ? Italy - - - - - 1 Johan den Dunnen
?/. 10 c.1330G>A r.(?) p.(Ala444Thr) Parent #2 - VUS g.100226936C>T g.100629313C>T - - TFR2_000019 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat6 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - - - - 1 Johan den Dunnen
?/. - c.1345A>G r.(?) p.(Ile449Val) Unknown - VUS g.100226921T>C g.100629298T>C - - TFR2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1364G>A r.(?) p.(Arg455Gln) Parent #2 - VUS g.100226902C>T g.100629279C>T - - TFR2_000004 - PubMed: Lee 2006 - - Unknown ? - BsgI+;HpyCH4V+;AciI- - - DNA PCR, SEQ - - HFE3 - PubMed: Lee and Barton 2006 - M - United Kingdom (Great Britain) White of Scottish descent - - - 34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed) 1 Ann Walker
+?/-? 10 c.1364G>A r.(?) p.(Arg455Gln) Parent #1 - likely pathogenic g.100226902C>T g.100629279C>T 1391G>A - TFR2_000004 proposed as a potential modifier of HFE p.(C282Y) homozygous haemochromatosis PubMed: Hofmann 2002, OMIM:var0004 - rs41303501 Germline - - BsgI;AvaII - - DNA SEQ, SSCA - - ? - PubMed: Hofmann 2002 2-generation family, mother HFE:C282Y homozygous sibs with discordant phenotype F ? United States - - - - - 1 Ann Walker
+?/-? 10 c.1364G>A r.(?) p.(Arg455Gln) Maternal (confirmed) - likely pathogenic g.100226902C>T g.100629279C>T 1391G>A - TFR2_000004 - PubMed: Hofmann 2002, OMIM:var0004 - rs41303501 Germline - - BsgI;AvaII - - DNA SEQ, SSCA - - HFE1 - PubMed: Hofmann 2002 2-generation family, Sib2 HFE:C282Y homozygous sibs with discordant phenotype M ? United States - - - - - 1 Ann Walker
+?/-? 10 c.1364G>A r.(?) p.(Arg455Gln) Maternal (confirmed) - likely pathogenic g.100226902C>T g.100629279C>T 1391G>A - TFR2_000004 - PubMed: Hofmann 2002, OMIM:var0004 - rs41303501 Germline - - BsgI;AvaII - - DNA SEQ, SSCA - - ? - PubMed: Hofmann 2002 2-generation family, Sib3+4 HFE:C282Y homozygous sibs with discordant phenotype - ? United States - - - - - 2 Ann Walker
+?/-? 10 c.1364G>A r.(?) p.(Arg455Gln) Maternal (confirmed) - likely pathogenic g.100226902C>T g.100629279C>T 1391G>A - TFR2_000004 does not carry HFE:C282Y PubMed: Hofmann 2002, OMIM:var0004 - rs41303501 Germline - - BsgI;AvaII - - DNA SEQ, SSCA - - ? - PubMed: Hofmann 2002 2-generation family, Sib5 HFE:C282Y homozygous sibs with discordant phenotype - ? United States - - - - - 1 Ann Walker
?/. 10 c.1364G>A r.(?) p.(Arg455Gln) Parent #1 - VUS g.100226902C>T g.100629279C>T - - TFR2_000004 variant possible disease modifier PubMed: Radio 2014, Journal: Radio 2014 - - Germline - - - - - DNA SEQ - - HFE 24055163-Pat PubMed: Radio 2014, Journal: Radio 2014 - - - Italy - - - - - 1 Johan den Dunnen
?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - VUS g.100226902C>T - TFR2(NM_003227.4):c.1364G>A (p.R455Q) - TFR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - VUS g.100226902C>T - TFR2(NM_003227.4):c.1364G>A (p.R455Q) - TFR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377C>T r.(?) p.(Ser459=) Unknown - likely benign g.100226889G>A - TFR2(NM_003227.3):c.1377C>T (p.S459=) - TFR2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1403G>A r.(?) p.(Arg468His) Both (homozygous) - pathogenic g.100225917C>T g.100628294C>T 13528G>A (Arg481His) - TFR2_000001 - PubMed: Hsiao 2007 - rs80338885 Unknown - - AciI;FauI - - DNA SEQ - - HFE3 - PubMed: Hsiao 2007 - F ? Taiwan Taiwanese - - - - 1 Ann Walker
-?/. - c.1420A>G r.(?) p.(Ile474Val) Unknown - likely benign g.100225900T>C - TFR2(NM_003227.3):c.1420A>G (p.I474V) - TFR2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1449C>T r.(?) p.(Ser483=) Unknown - likely benign g.100225871G>A - - - TFR2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1450G>A r.(?) p.(Val484Met) Unknown - VUS g.100225870C>T g.100628247C>T TFR2(NM_003227.3):c.1450G>A (p.V484M) - TFR2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1469T>G r.(?) p.(Leu490Arg) Both (homozygous) - pathogenic g.100225851A>C g.100628228A>C - - TFR2_000018 - PubMed: Koyama 2005 - - Unknown - - - - - DNA SEQ - - HFE1 - PubMed: Koyama 2005 - - no Japan - - - - - 1 Johan den Dunnen
?/. 11 c.1473G>A r.1473g>a p.Glu491= Paternal (confirmed) - VUS g.100225847C>T g.100628224C>T E491E - TFR2_000040 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HFE 22890139-Fam2Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 2-generation family, affected father and son M no Spain - - - - - 5 Johan den Dunnen
?/. 11 c.1473G>A r.spl? p.(=) Unknown - VUS g.100225847C>T g.100628224C>T - - TFR2_000040 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - HFE 22890139-Fam2Pat1f PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 father of Pat1 M - Spain - - - - - 1 Johan den Dunnen
?/. 11 c.1473G>A r.1473g>a p.Glu491= Unknown - VUS g.100225847C>T g.100628224C>T - - TFR2_000040 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HFE 22890139-Fam3Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 2-generation family, 1 affected M - Spain - - - - - 1 Johan den Dunnen
?/. - c.1473G>A r.(?) p.(Glu491=) Unknown - VUS g.100225847C>T g.100628224C>T TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=) - TFR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1473G>A r.(?) p.(Glu491=) Unknown - VUS g.100225847C>T - TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=) - TFR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1473G>A r.(?) p.(Glu491=) Unknown - VUS g.100225847C>T - TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=) - TFR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473G>A r.(?) p.(Glu491=) Unknown - likely benign g.100225847C>T - TFR2(NM_003227.3):c.1473G>A (p.E491=), TFR2(NM_003227.4):c.1473G>A (p.(Glu491=), p.E491=) - TFR2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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