Full data view for gene HFE

Information The variants shown are described using the NM_000410.3 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
Legend   How to query  

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     
?/. _1 c.-408_-406del r.(=) p.(=) Unknown - VUS g.26087261_26087263del g.26087033_26087035del -408_-406delCAA - HFE_000004 variant in unaffected son and daughter PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ Whole blood - HFE 22890139-Fam1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - F - Spain - - 0 - - 1 Mayka Sanchez
?/. _1 c.-408_-406del r.(=) p.(=) Unknown - VUS g.26087261_26087263del g.26087033_26087035del -408_-406delCAA - HFE_000004 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ - - HFE 22890139-Fam4Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - 0 - - 1 Johan den Dunnen
?/. - c.-7T>C r.(?) p.(=) Unknown - VUS g.26087662T>C g.26087434T>C - - HFE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18G>C r.(?) p.(Arg6Ser) Unknown - VUS g.26087686G>C g.26087458G>C HFE(NM_000410.3):c.18G>C (p.R6S) - HFE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.18G>C r.(?) p.(Arg6Ser) Unknown - VUS g.26087686G>C g.26087458G>C HFE(NM_000410.3):c.18G>C (p.R6S) - HFE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.18G>C r.(?) p.(Arg6Ser) Unknown - VUS g.26087686G>C g.26087458G>C HFE(NM_000410.3):c.18G>C (p.R6S) - HFE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40C>G r.(?) p.(Leu14Val) Unknown - likely benign g.26087708C>G g.26087480C>G - - HFE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.50C>T r.(?) p.(Thr17Ile) Unknown - likely benign g.26087718C>T g.26087490C>T HFE(NM_000410.3):c.50C>T (p.T17I) - HFE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.50C>T r.(?) p.(Thr17Ile) Unknown - likely benign g.26087718C>T g.26087490C>T HFE(NM_000410.3):c.50C>T (p.T17I) - HFE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.76+7C>G r.(=) p.(=) Unknown - VUS g.26087751C>G g.26087523C>G - - HFE_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76+11G>A r.(=) p.(=) Unknown - likely benign g.26087755G>A - - - HFE_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77-22A>G r.(=) p.(=) Unknown - VUS g.26091047A>G g.26090819A>G - - HFE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88C>A r.(?) p.(Leu30Met) Unknown - VUS g.26091080C>A g.26090852C>A HFE(NM_000410.3):c.88C>A (p.L30M) - HFE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.88C>A r.(?) p.(Leu30Met) Unknown - VUS g.26091080C>A g.26090852C>A HFE(NM_000410.3):c.88C>A (p.L30M) - HFE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Lee 2006 - - Unknown ? - - 0 - DNA PCR, SEQ - - HFE-3 - PubMed: Lee and Barton 2006 - M - United Kingdom (Great Britain) White of Scottish descent - 0 - 34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed) 1 Ann Walker
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Matthes 2004 - rs1799945 Germline - - - 0 - DNA SEQ - - HFE-1 - PubMed: Matthes 2004 - M - Portugal - - 0 - - 1 Chana Unger
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Merryweather-Clarke 2003 - rs1799945 Germline - - - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Merryweather-Clarke 2003 unaffected carrier mother HFE p.(H63D) M - - - - 0 - - 1 Chana Unger
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #2 - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Biasiotto 2004 - rs1799945 Germline - - - 0 - DNA SEQ - - ? - PubMed: Biasiotto 2004 found in 3 individuals (incl. father/son) - - - - - 0 - - 3 Ann Walker
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #2 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Pietrangelo 2005 - rs1799945 Germline - - - 0 - DNA SEQ - - HFE-1 - PubMed: Pietrangelo 2005 4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars - yes Italy - - 0 - - 3 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Biasiotto 2003 - rs1799945 Germline - - - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Camaschella 2000 - - Germline no - - 0 - DNA, RNA RT-PCR, SEQ - - HFE-3 - 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 - 0 - - 3 Johan den Dunnen
?/? 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - VUS g.26091179C>G g.26090951C>G 0 - HFE_000001 - - - - Germline - - - 0 - DNA SEQ - - HFE-1 - - - - - - - - 0 - - 1 Gerard C.P. Schaafsma
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - 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 - - 0 - - 5 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ - - HFE 22890139-Fam2Pat1f PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 father of Pat1 M - Spain - - 0 - - 1 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 22890139-Fam2Pat1m PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 mother of Pat1 F - Spain - - 0 - - 1 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ - - Healthy/Control 22890139-Fam2Pat1s2 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 sister of Pat1 F - Spain - - 0 - - 1 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Both (homozygous) - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ - - HFE 22890139-Fam5Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - 0 - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Zamani 2012 - - Germline - - - 0 - DNA SEQ - - HFE 23018356-Pat PubMed: Zamani 2012 - - - Iran - - 0 - - 4 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2011 - - Germline - - - 0 - DNA SEQ Peripheral blood - HFE-1 21770687-Pat PubMed: Del-Castillo-Rueda 2011 - M - Portugal - - 0 - - 1 Mayka Sanchez
+?/. 2 c.187C>G r.(?) p.(His63Asp) Paternal (confirmed) - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Piperno 2004 - - Germline - - - 0 - DNA SEQ - - HFE 15020277-Fam1 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - 0 - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Maternal (confirmed) - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Piperno 2004 - - Germline - - - 0 - DNA SEQ - - HFE 15020277-Fam2 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - 0 - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - 0 - DNA SEQ - - HFE 23600741-Pat1 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F yes France - - 0 - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - 0 - DNA SEQ - - HFE 23600741-Pat2 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - M - France - - 0 - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - 0 - DNA SEQ - - HFE 23600741-Pat7 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - 0 - - 1 Johan den Dunnen
+/. - c.187C>G r.(?) p.(His63Asp) Unknown - pathogenic g.26091179C>G g.26090951C>G HFE(NM_000410.3):c.187C>G (p.H63D) - HFE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.187C>G r.(?) p.(His63Asp) Unknown - pathogenic g.26091179C>G g.26090951C>G HFE(NM_000410.3):c.187C>G (p.H63D) - HFE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.187C>G r.(?) p.(His63Asp) Unknown - pathogenic g.26091179C>G g.26090951C>G HFE(NM_000410.3):c.187C>G (p.H63D) - HFE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187C>G r.(?) p.(His63Asp) Unknown - likely benign g.26091179C>G g.26090951C>G - - HFE_000001 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.038 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
+?/. 2 c.193A>T r.(?) p.(Ser65Cys) Parent #1 - likely pathogenic g.26091185A>T g.26090957A>T - - HFE_000003 - PubMed: Biasiotto 2003 - rs1800730 Germline - - - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - 1 Johan den Dunnen
-?/. - c.193A>T r.(?) p.(Ser65Cys) Unknown - likely benign g.26091185A>T g.26090957A>T HFE(NM_000410.3):c.193A>T (p.S65C) - HFE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.193A>T r.(?) p.(Ser65Cys) Unknown - likely benign g.26091185A>T g.26090957A>T HFE(NM_000410.3):c.193A>T (p.S65C) - HFE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.193A>T r.(?) p.(Ser65Cys) Unknown - VUS g.26091185A>T g.26090957A>T HFE(NM_000410.3):c.193A>T (p.S65C) - HFE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.211C>T r.(?) p.(Arg71*) Unknown - pathogenic g.26091203C>T g.26090975C>T - - HFE_000005 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ - - HFE 22890139-Fam4Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - 0 - - 1 Johan den Dunnen
?/. - c.340+4T>A r.spl? p.? Unknown - VUS g.26091336T>A g.26091108T>A - - HFE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.340+4T>C r.spl? p.? Unknown - benign g.26091336T>C g.26091108T>C HFE(NM_000410.3):c.340+4T>C - HFE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.340+4T>C r.spl? p.? Unknown - benign g.26091336T>C g.26091108T>C HFE(NM_000410.3):c.340+4T>C - HFE_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.498G>C r.(?) p.(Lys166Asn) Unknown - pathogenic g.26091699G>C g.26091471G>C - - HFE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.502G>C r.(?) p.(Glu168Gln) Parent #1 - VUS g.26091703G>C g.26091475G>C - - HFE_000026 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146519482 Germline - 1/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.548T>C r.(?) p.(Leu183Pro) Unknown - VUS g.26091749T>C g.26091521T>C HFE(NM_000410.3):c.548T>C (p.L183P) - HFE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.548T>C r.(?) p.(Leu183Pro) Unknown - likely pathogenic g.26091749T>C g.26091521T>C HFE(NM_000410.3):c.548T>C (p.L183P) - HFE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616+6G>A r.(=) p.(=) Unknown - likely benign g.26091823G>A g.26091595G>A HFE(NM_000410.3):c.616+6G>A - HFE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.617-48C>G r.(=) p.(=) Unknown - VUS g.26092865C>G g.26092637C>G - - HFE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617-48C>T r.(=) p.(=) Unknown - VUS g.26092865C>T g.26092637C>T - - HFE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.689A>G r.(?) p.(Tyr230Cys) Unknown - VUS g.26092985A>G g.26092757A>G - - HFE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696C>T r.(?) p.(Pro232=) Unknown - likely benign g.26092992C>T g.26092764C>T HFE(NM_000410.3):c.696C>T (p.P232=) - HFE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.829G>A r.(?) p.(Glu277Lys) Unknown - pathogenic g.26093125G>A g.26092897G>A - - HFE_000011 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Unknown - - - 0 - DNA SEQ-NG LCL WES ALS 242 PubMed: Vadgama 2019, Journal: Vadgama 2019 242: proband diagnosed with ALS 243: unaffected MZ twin M - - - - 0 - - 1 Nirmal Vadgama
?/. - c.829G>A r.(?) p.(Glu277Lys) Unknown - VUS g.26093125G>A g.26092897G>A HFE(NM_000410.3):c.829G>A (p.E277K) - HFE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.829G>A r.(?) p.(Glu277Lys) Unknown - likely benign g.26093125G>A g.26092897G>A HFE(NM_000410.3):c.829G>A (p.E277K) - HFE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.829G>A r.(?) p.(Glu277Lys) Unknown - benign g.26093125G>A g.26092897G>A HFE(NM_000410.3):c.829G>A (p.E277K) - HFE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Glu277Lys) Parent #1 - VUS g.26093125G>A g.26092897G>A - - HFE_000011 conflicting interpretations of pathogenicity; 60 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140080192 Germline - 60/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 60 Mohammed Faruq
?/. - c.829G>A r.(?) p.(Glu277Lys) Both (homozygous) - VUS g.26093125G>A g.26092897G>A - - HFE_000011 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140080192 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Both (homozygous) - pathogenic g.26093141G>A g.26092913G>A C282Y - HFE_000002 - PubMed: Island 2009 - rs1800562 Germline - - - 0 - DNA SEQ - - HFE-1 - PubMed: Island 2009 - M - France - - 0 - - 1 Chana Unger
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Both (homozygous) - pathogenic g.26093141G>A g.26092913G>A C282Y - HFE_000002 - PubMed: Merryweather-Clarke 2003 - rs1800562 Germline - - - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Merryweather-Clarke 2003 digenic inheritance; 2-generation family, patient and unaffected carrier mother M - - - - 0 - - 1 Chana Unger
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Both (homozygous) - pathogenic g.26093141G>A g.26092913G>A C282Y - HFE_000002 - PubMed: Jacolot 2004 - rs1800562 Germline - - - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Jacolot 2004 - - - - - - 0 - - 1 Chana Unger
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Both (homozygous) - pathogenic g.26093141G>A g.26092913G>A C282Y - HFE_000002 - PubMed: Merryweather-Clarke 2003 - rs1800562 Germline - - - 0 - DNA PCRdig, SEQ - - HFE-1 - PubMed: Merryweather-Clarke 2003 2-generation family, heterozygous carrier father HFE:C282Y heterozygote, sister HFE:C282Y homozygote - - - - - 0 - - 1 Chana Unger
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - pathogenic g.26093141G>A g.26092913G>A C282Y - HFE_000002 - PubMed: Biasiotto 2004 - rs1800562 Germline - - - 0 - DNA SEQ - - ? - PubMed: Biasiotto 2004 found in 3 individuals (incl. father/son) - - - - - 0 - - 3 Ann Walker
+?/-? 4 c.845G>A r.(?) p.(Cys282Tyr) Maternal (confirmed) - likely pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Hofmann 2002, OMIM:var0004 - rs41303501 Germline - - BsgI;AvaII 0 - DNA SEQ, SSCA - - HFE-1 - PubMed: Hofmann 2002 2-generation family, Sib1 HFE:C282Y homozygous sibs with discordant phenotype M ? United States - - 0 - - 1 Ann Walker
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Hofmann 2002 - rs1800562 Germline - - - 0 - DNA SEQ, SSCA - - ? - PubMed: Hofmann 2002 2-generation family, mother HFE:C282Y homozygous sibs with discordant phenotype F ? United States - - 0 - - 1 Ann Walker
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Both (homozygous) - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Hofmann 2002 - rs1800562 Germline - - - 0 - DNA SEQ, SSCA - - HFE-1 - PubMed: Hofmann 2002 2-generation family, Sib2 HFE:C282Y homozygous sibs with discordant phenotype M ? United States - - 0 - - 1 Ann Walker
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Hofmann 2002 - rs1800562 Germline - - - 0 - DNA SEQ, SSCA - - ? - PubMed: Hofmann 2002 2-generation family, Sib3+4 HFE:C282Y homozygous sibs with discordant phenotype - ? United States - - 0 - - 2 Ann Walker
+/? 4 c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Mattman 2002 - rs1800562 Germline - - - 0 - DNA PCR, SEQ - - HFE-1 - PubMed: Mattman 2002, Journal: Mattman 2002 4-generation family, 3 affecteds (2F, M), index has 2 affected sisters (1HFE:H63D heterozygote) - yes Portugal Portuguese - 0 - - 3 Dan Yin
+?/. 4 c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - likely pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Mattman 2002 - rs1800562 Germline - 48/89 cases - 0 - DNA PCR, SEQ - - HFE-1 - PubMed: Mattman 2002 89 iron overload patients, non-HFE:C282Y - ? Canada - - 0 - - 89 Johan den Dunnen
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Pietrangelo 2005 - rs1800562 Germline - - - 0 - DNA SEQ - - HFE-1 - PubMed: Pietrangelo 2005 4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars - yes Italy - - 0 - - 3 Johan den Dunnen
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Both (homozygous) - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Biasiotto 2003 - rs1800562 Germline - - - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Biasiotto 2003 - - ? Italy - - 0 - - 1 Johan den Dunnen
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Both (homozygous) - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Biasiotto 2003 - rs1800562 Germline - 5/9 cases - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Biasiotto 2003 family, 8 affecteds - ? Italy - - 0 - - 8 Johan den Dunnen
+/. 4 c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Biasiotto 2003 - rs1800562 Germline - 3/9 cases - 0 - DNA DHPLC, SEQ - - HFE-1 - PubMed: Biasiotto 2003 family, 8 affecteds - ? Italy - - 0 - - 8 Johan den Dunnen
?/. 4 c.845G>A r.(?) p.(Cys282Tyr) Unknown - VUS g.26093141G>A g.26092913G>A - - HFE_000002 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - 0 - DNA SEQ - - HFE 22890139-Fam4Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.845G>A r.(?) p.(Cys282Tyr) Unknown ACMG pathogenic g.26093141G>A g.26092913G>A - - HFE_000002 ACMG: PS3,PS4,PM3,PP3,PP4 - - rs1800562 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
?/. - c.845G>A r.(?) p.(Cys282Tyr) Parent #1 - VUS g.26093141G>A g.26092913G>A - - HFE_000002 conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800562 Germline - 10/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
-?/. - c.884T>C r.(?) p.(Val295Ala) Unknown - likely benign g.26093180T>C g.26092952T>C HFE(NM_000410.3):c.884T>C (p.(Val295Ala)) - HFE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.892+48G>A r.(=) p.(=) Unknown - benign g.26093236G>A g.26093008G>A - - HFE_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.893-50G>A r.(=) p.(=) Unknown - VUS g.26093297G>A g.26093069G>A - - HFE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.902C>T r.(?) p.(Pro301Leu) Unknown - likely benign g.26093356C>T - HFE(NM_000410.3):c.902C>T (p.P301L) - HFE_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943G>A r.(?) p.(Val315Ile) Unknown ACMG VUS g.26093397G>A g.26093169G>A - - HFE_000031 - PubMed: Isbister 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - CM WV1 PubMed: Isbister 2020 - - - Australia - - 0 - - 1 Johan den Dunnen
-?/. - c.978C>T r.(?) p.(Phe326=) Unknown - likely benign g.26093432C>T g.26093204C>T HFE(NM_000410.3):c.978C>T (p.F326=) - HFE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1006+1G>A r.spl? p.? Unknown - likely benign g.26093461G>A g.26093233G>A - - HFE_000030 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.014 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1016T>A r.(?) p.(Met339Lys) Unknown - VUS g.26094423T>A - - - HFE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query