Full data view for gene TMPRSS6

Information The variants shown are described using the NM_153609.2 transcript reference sequence.

164 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.15C>T r.(?) p.(=) Unknown - benign g.37499565G>A - - - TMPRSS6_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.76_80del r.(?) p.(Gly26Trpfs*14) Paternal (inferred) - pathogenic g.37499407_37499411del g.37103367_37103371del 76_80delGGTGA - TMPRSS6_000008 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Spain - - - - - 1 Mayka Sanchez
-/. - c.99G>A r.(?) p.(Pro33=) Unknown - benign g.37499386C>T g.37103346C>T TMPRSS6(NM_153609.4):c.72G>A (p.P24=) - TMPRSS6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99G>A r.(?) p.(Pro33=) Unknown - benign g.37499386C>T g.37103346C>T TMPRSS6(NM_153609.4):c.72G>A (p.P24=) - TMPRSS6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.188del r.(?) p.(Leu63Profs*14) Parent #1 - pathogenic g.37499297del g.37103257del - - TMPRSS6_000017 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - F no Italy - - - - - 1 Mayka Sanchez
-?/. - c.208G>C r.(?) p.(Val70Leu) Unknown - likely benign g.37499277C>G g.37103237C>G TMPRSS6(NM_153609.2):c.208G>C (p.(Val70Leu)) - TMPRSS6_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.210G>A r.(?) p.(Val70=) Unknown - likely benign g.37499275C>T - TMPRSS6(NM_153609.3):c.210G>A (p.V70=) - TMPRSS6_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.289C>T r.(?) p.(Arg97Cys) Unknown - VUS g.37494530G>A - TMPRSS6(NM_001374504.1):c.262C>T (p.(Arg88Cys)) - TMPRSS6_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316C>T r.(?) p.(Arg106Trp) Unknown - VUS g.37494503G>A - TMPRSS6(NM_153609.4):c.289C>T (p.R97W) - TMPRSS6_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335G>T r.(?) p.(Arg112Leu) Unknown - VUS g.37494484C>A - TMPRSS6(NM_001374504.1):c.308G>T (p.(Arg103Leu)) - TMPRSS6_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.340G>A r.(?) p.(Glu114Lys) Parent #1 - pathogenic g.37494479C>T g.37098439C>T - - TMPRSS6_000005 - PubMed: Guillem 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Guillem 2012 family, 1 affected - - France - - - - - 1 Mayka Sanchez
+/. 3 c.340G>A r.(?) p.(Glu114Lys) Maternal (confirmed) - pathogenic g.37494479C>T g.37098439C>T - - TMPRSS6_000005 - Grandchamp, submitted - - Germline yes - - - - DNA SEQ - - IRIDA - Grandchamp, submitted - M no France - - - - - 1 Bernard Grandchamp
+/. 3 c.353C>A r.(?) p.(Ala118Asp) Parent #2 - pathogenic g.37494466G>T g.37098426G>T 467C>A - TMPRSS6_000028 - PubMed: Ramsay 2009 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Ramsay 2009 family, 2 affecteds - - Spain - - - - - 2 Mayka Sanchez
-?/. - c.388C>T r.(?) p.(Arg130Cys) Unknown - likely benign g.37492731G>A - TMPRSS6(NM_153609.2):c.388C>T (p.(Arg130Cys)) - TMPRSS6_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.422A>G r.(?) p.(Tyr141Cys) Paternal (inferred) - pathogenic g.37492697T>C g.37096657T>C 536A>G - TMPRSS6_000031 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 1 affected - - India - - - - - 1 Mayka Sanchez
+/. 4 c.422A>G r.(?) p.(Tyr141Cys) Paternal (inferred) - pathogenic g.37492697T>C g.37096657T>C 442A>G - TMPRSS6_000031 - PubMed: Altamura 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Altamura 2010 family, 1 affected - - Lebanon - - - - - 1 Mayka Sanchez
+/. 4 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - pathogenic g.37492697T>C g.37096657T>C 536A>G - TMPRSS6_000031 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 1 affected - - India - - - - - 1 Mayka Sanchez
+/. 4 c.422A>G r.(?) p.(Tyr141Cys) Maternal (inferred) - pathogenic g.37492697T>C g.37096657T>C 442A>G - TMPRSS6_000031 - PubMed: Altamura 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Altamura 2010 family, 1 affected - - Lebanon - - - - - 1 Mayka Sanchez
+/. 5 c.496del r.(?) p.(Leu166*) Parent #1 - pathogenic g.37492066del g.37096026del 611delC - TMPRSS6_000047 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 1 affected - - Austria - - - - - 1 Mayka Sanchez
+/. 5 c.497del r.(?) p.(Leu166Argfs*37) Paternal (inferred) - pathogenic g.37492065del g.37096025del - - TMPRSS6_000051 - PubMed: Beutler 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Beutler 2010 family, 1 affected - - Netherlands - - - - - 1 Mayka Sanchez
+/. 5 c.497del r.(?) p.(Leu166Argfs*37) Maternal (inferred) - pathogenic g.37492065del g.37096025del - - TMPRSS6_000051 - PubMed: Beutler 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Beutler 2010 family, 1 affected - - Netherlands - - - - - 1 Mayka Sanchez
+/. - c.497del r.(?) p.(Leu166ArgfsTer37) Unknown - pathogenic g.37492065del g.37096025del TMPRSS6(NM_001374504.1):c.470del (p.(Leu157Argfs*37)), TMPRSS6(NM_153609.3):c.497delT (p.L166Rfs*37) - TMPRSS6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.497del r.(?) p.(Leu166ArgfsTer37) Unknown - pathogenic g.37492065del - TMPRSS6(NM_001374504.1):c.470del (p.(Leu157Argfs*37)), TMPRSS6(NM_153609.3):c.497delT (p.L166Rfs*37) - TMPRSS6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.497del r.(?) p.(Leu166ArgfsTer37) Unknown - pathogenic g.37492065del - TMPRSS6(NM_001374504.1):c.470del (p.(Leu157Argfs*37)), TMPRSS6(NM_153609.3):c.497delT (p.L166Rfs*37) - TMPRSS6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549C>T r.(?) p.(=) Unknown - likely benign g.37492013G>A - TMPRSS6(NM_001374504.1):c.522C>T (p.(Val174=)) - TMPRSS6_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564C>T r.(?) p.(=) Unknown - benign g.37491998G>A - - - TMPRSS6_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.635T>C r.(?) p.(Ile212Thr) Parent #1 - pathogenic g.37491614A>G g.37095574A>G 749 T>C - TMPRSS6_000032 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 1 affected - - Italy - - - - - 1 Mayka Sanchez
+/. 6i c.658+1G>C r.spl p.? Paternal (inferred) - pathogenic g.37491590C>G g.37095550C>G - - TMPRSS6_000046 - PubMed: Melis 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Melis 2008 family, 5 affecteds - - Italy Sardinia - - - - 5 Mayka Sanchez
+/. 6i c.658+1G>C r.spl p.? Paternal (inferred) - pathogenic g.37491590C>G g.37095550C>G - - TMPRSS6_000046 - PubMed: Cau 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Cau 2012 family, 1 affected - - Italy - - - - - 1 Mayka Sanchez
+/. 6i c.658+1G>C r.spl p.? Maternal (inferred) - pathogenic g.37491590C>G g.37095550C>G - - TMPRSS6_000046 - PubMed: Melis 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Melis 2008 family, 5 affecteds - - Italy Sardinia - - - - 5 Mayka Sanchez
+/. 6i c.658+1G>C r.spl p.? Maternal (inferred) - pathogenic g.37491590C>G g.37095550C>G - - TMPRSS6_000046 - PubMed: Cau 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Cau 2012 family, 1 affected - - Italy - - - - - 1 Mayka Sanchez
+/. 7 c.685del r.(?) p.(Gln229Argfs*7) Parent #2 - pathogenic g.37485797del g.37089757del 790delG - TMPRSS6_000048 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 1 affected - - Austria - - - - - 1 Mayka Sanchez
+/. 7 c.704T>C r.(?) p.(Leu235Pro) Paternal (confirmed) - pathogenic g.37485777A>G g.37089737A>G - - TMPRSS6_000002 - Grandchamp, submitted - - Germline yes - - - - DNA SEQ - - IRIDA - Grandchamp, submitted - M no France - - - - - 1 Bernard Grandchamp
+/. 7 c.704T>C r.(?) p.(Leu235Pro) Parent #1 - pathogenic g.37485777A>G g.37089737A>G - - TMPRSS6_000002 - PubMed: Guillem 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Guillem 2012 family, 2 affecteds - - France - - - - - 2 Mayka Sanchez
+/. 7 c.738del r.(?) p.(Trp247Glyfs*91) Paternal (inferred) - pathogenic g.37485743del g.37089703del 855delG - TMPRSS6_000049 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 2 affecteds - - Greece - - - - - 2 Mayka Sanchez
+/. 7 c.738del r.(?) p.(Trp247Glyfs*91) Maternal (inferred) - pathogenic g.37485743del g.37089703del 855delG - TMPRSS6_000049 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 2 affecteds - - Greece - - - - - 2 Mayka Sanchez
+/. 7 c.741G>T r.(?) p.(Trp247Cys) Paternal (inferred) - pathogenic g.37485740C>A g.37089700C>A - - TMPRSS6_000023 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Belgium - - - - - 1 Mayka Sanchez
+/. 7 c.741G>T r.(?) p.(Trp247Cys) Maternal (inferred) - pathogenic g.37485740C>A g.37089700C>A - - TMPRSS6_000023 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Belgium - - - - - 1 Mayka Sanchez
-/. - c.757A>G r.(?) p.(Lys253Glu) Unknown - benign g.37485724T>C - - - TMPRSS6_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.812G>A r.(?) p.(Arg271Gln) Maternal (inferred) - pathogenic g.37485669C>T g.37089629C>T 926G>A - TMPRSS6_000033 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 1 affected - - Italy - - - - - 1 Mayka Sanchez
?/. - c.829G>A r.(?) p.(Val277Met) Unknown - VUS g.37485652C>T - - - TMPRSS6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.831_833dup r.(?) p.(Ala278dup) Unknown - VUS g.37485648_37485650dup - TMPRSS6(NM_001374504.1):c.804_806dup (p.(Ala269dup)) - TMPRSS6_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.860C>A r.(?) p.(Thr287Asn) Paternal (inferred) - likely pathogenic g.37485621G>T g.37089581G>T - - TMPRSS6_000006 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Venezuela - - - - - 1 Mayka Sanchez
+?/. 7 c.860C>A r.(?) p.(Thr287Asn) Paternal (inferred) - likely pathogenic g.37485621G>T g.37089581G>T - - TMPRSS6_000006 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M - Colombia - - - - - 1 Mayka Sanchez
+/. 7 c.860C>A r.(?) p.(Thr287Asn) Maternal (inferred) - pathogenic g.37485621G>T g.37089581G>T - - TMPRSS6_000006 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Venezuela - - - - - 1 Mayka Sanchez
+?/. 7 c.860C>A r.(?) p.(Thr287Asn) Maternal (inferred) - likely pathogenic g.37485621G>T g.37089581G>T - - TMPRSS6_000006 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M - Colombia - - - - - 1 Mayka Sanchez
+/. 7i c.863+1G>T r.spl p.? Parent #2 - pathogenic g.37485617C>A g.37089577C>A - - TMPRSS6_000038 - PubMed: Choi 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Choi 2012 family, 1 affected - - Korea - - - - - 1 Mayka Sanchez
?/. - c.865G>T r.(?) p.(Val289Leu) Unknown - VUS g.37482458C>A - TMPRSS6(NM_153609.3):c.865G>T (p.V289L) - TMPRSS6_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.880C>T r.(?) p.(Arg294Cys) Unknown - VUS g.37482443G>A - TMPRSS6(NM_001374504.1):c.853C>T (p.(Arg285Cys)) - TMPRSS6_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.911C>T r.(?) p.(Ser304Leu) Parent #1 - likely pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Italy - - - - - 1 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Paternal (inferred) - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 3 affecteds - - - Arab - - - - 3 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Parent #1 - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: Pellegrino 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Pellegrino 2012 family, 1 affected - - Italy - - - - - 1 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Parent #2 - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: Tchou 2009 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Tchou 2009 family, 1 affected - - Switzerland - - - - - 1 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Maternal (inferred) - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 3 affecteds - - - Arab - - - - 3 Mayka Sanchez
?/. - c.990G>A r.(?) p.(=) Unknown - VUS g.37482333C>T - TMPRSS6(NM_001374504.1):c.963G>A (p.(Val321=)) - TMPRSS6_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1000+1G>T r.spl? p.? Unknown - likely pathogenic g.37482322C>A - - - TMPRSS6_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i_10 c.1001-586_1146del r.spl p.? Parent #1 - pathogenic g.37480412_37481465del g.37084372_37085425del g.29139_30192del - TMPRSS6_000030 - PubMed: Tchou 2009 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Tchou 2009 family, 1 affected - - Switzerland - - - - - 1 Mayka Sanchez
?/. - c.1001-18G>A r.(=) p.(=) Unknown - VUS g.37480897C>T - - - TMPRSS6_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i c.1001-11_1001-3del r.spl p.? Parent #2 - pathogenic g.37480883_37480891del g.37084843_37084851del - - TMPRSS6_000039 - PubMed: Pellegrino 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Pellegrino 2012 family, 1 affected - - Italy - - - - - 1 Mayka Sanchez
+/. 9 c.1004G>T r.(?) p.(Cys335Phe) Parent #1 - pathogenic g.37480876C>A g.37084836C>A - - TMPRSS6_000018 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - F no Italy - - - - - 1 Mayka Sanchez
?/. - c.1019C>T r.(?) p.(Thr340Met) Parent #1 - VUS g.37480861G>A g.37084821G>A - - TMPRSS6_000071 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185482276 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
+/. 9 c.1065C>A r.(?) p.(Tyr355*) Parent #1 - pathogenic g.37480815G>T g.37084775G>T - - TMPRSS6_000042 - PubMed: Finberg 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Finberg 2008 family, 1 affected - - United States African American - - - - 1 Mayka Sanchez
-/. - c.1083G>A r.(?) p.(=) Unknown - benign g.37480797C>T - - - TMPRSS6_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1105C>A r.(?) p.(His369Asn) Unknown - VUS g.37480775G>T - - - TMPRSS6_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112C>T r.(?) p.(Thr371Met) Unknown - likely benign g.37480768G>A g.37084728G>A TMPRSS6(NM_153609.2):c.1112C>T (p.(Thr371Met)) - TMPRSS6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1179T>G r.(?) p.(Tyr393*) Parent #2 - pathogenic g.37480379A>C g.37084339A>C - - TMPRSS6_000045 - PubMed: Guillem 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Guillem 2008 family, 1 affected - - United Kingdom (Great Britain) English - - - - 1 Mayka Sanchez
+/. 10 c.1213C>T r.(?) p.(Gln405*) Parent #1 - pathogenic g.37480345G>A g.37084305G>A - - TMPRSS6_000011 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Italy - - - - - 1 Mayka Sanchez
+/. 11i c.1223+1G>A r.spl p.? Parent #1 - pathogenic g.37480334C>T g.37084294C>T - - TMPRSS6_000014 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Turkey - - - - - 1 Mayka Sanchez
+?/. - c.1228T>C r.(?) p.(Cys410Arg) Unknown - likely pathogenic g.37471316A>G - - - TMPRSS6_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1233C>T r.(?) p.(=) Unknown - likely benign g.37471311G>A - TMPRSS6(NM_001374504.1):c.1206C>T (p.(Gly402=)) - TMPRSS6_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1253A>G r.(?) p.(Tyr418Cys) Maternal (confirmed) - pathogenic g.37471291T>C g.37075251T>C - - TMPRSS6_000003 - Grandchamp, submitted - - Germline yes - - - - DNA SEQ - - IRIDA - Grandchamp, submitted - M no France - - - - - 1 Bernard Grandchamp
+/. 11 c.1253A>G r.(?) p.(Tyr418Cys) Parent #2 - pathogenic g.37471291T>C g.37075251T>C - - TMPRSS6_000003 - PubMed: Guillem 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Guillem 2012 family, 2 affecteds - - France - - - - - 2 Mayka Sanchez
-/. - c.1254C>T r.(?) p.(=) Unknown - benign g.37471290G>A - - - TMPRSS6_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1324G>A r.(?) p.(Gly442A Parent #1 - pathogenic g.37471220C>T g.37075180C>T - - TMPRSS6_000025 - PubMed: Finberg 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Finberg 2008 family, 2 affecteds - - - Europe, north - - - - 2 Mayka Sanchez
+/. 11 c.1324G>A r.(?) p.(Gly442Arg) Parent #1 - pathogenic g.37471220C>T g.37075180C>T - - TMPRSS6_000025 - PubMed: Khuong-Quang 2013 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Khuong-Quang 2013 family, 2 affecteds - - Canada French-Canadian - - - - 2 Mayka Sanchez
+/. - c.1324G>A r.(?) p.(Gly442Arg) Unknown - pathogenic g.37471220C>T - - - TMPRSS6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1333G>A r.(?) p.(Val445Met) Unknown - VUS g.37471211C>T - - - TMPRSS6_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336C>T r.(?) p.(Arg446Trp) Parent #1 - likely benign g.37471208G>A g.37075168G>A - - TMPRSS6_000065 37 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117576908 Germline - 37/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 37 Mohammed Faruq
?/. - c.1369+4A>T r.spl? p.? Unknown - VUS g.37471171T>A - - - TMPRSS6_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1383del r.(?) p.(Glu461Aspfs*6) Parent #2 - pathogenic g.37470735del g.37074695del 1383delA - TMPRSS6_000043 - PubMed: Finberg 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Finberg 2008 family, 1 affected - - United States African American - - - - 1 Mayka Sanchez
?/. - c.1403G>C r.(?) p.(Gly468Ala) Unknown - VUS g.37470715C>G g.37074675C>G - - TMPRSS6_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1442C>T r.(?) p.(Pro481Leu) Unknown - VUS g.37470676G>A - TMPRSS6(NM_001374504.1):c.1415C>T (p.(Pro472Leu)) - TMPRSS6_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1467C>T r.(?) p.(Cys489=) Unknown - likely benign g.37470651G>A g.37074611G>A TMPRSS6(NM_153609.2):c.1467C>T (p.(=)) - TMPRSS6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1467C>T r.(?) p.(Cys489=) Unknown - likely benign g.37470651G>A - TMPRSS6(NM_153609.2):c.1467C>T (p.(=)) - TMPRSS6_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12_12i c.1468_1468+3dup r.spl p.? Parent #1 - pathogenic g.37470647_37470650dup g.37074607_37074610dup 1468_1468+3dupGGTG - TMPRSS6_000021 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Ireland - - - - - 1 Mayka Sanchez
?/. - c.1468+10C>T r.(=) p.(=) Parent #1 - VUS g.37470640G>A g.37074600G>A - - TMPRSS6_000070 conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79816125 Germline - 11/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
-/. - c.1468+12G>A r.(=) p.(=) Unknown - benign g.37470638C>T - - - TMPRSS6_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1528T>A r.(?) p.(Cys510Ser) Parent #1 - pathogenic g.37469626A>T g.37073586A>T 1642C>A - TMPRSS6_000015 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 1 affected - - Algeria - - - - - 1 Mayka Sanchez
+/. 13 c.1528T>C r.(?) p.(Cys510Arg) Parent #2 - pathogenic g.37469626A>G g.37073586A>G - - TMPRSS6_000015 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Turkey - - - - - 1 Mayka Sanchez
+/. 13 c.1561G>A r.(?) p.(Asp521Asn) Parent #1 - pathogenic g.37469593C>T g.37073553C>T - - TMPRSS6_000026 - PubMed: Silvestri 2009 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Silvestri 2009 family, 1 affected - - France - - - - - 1 Mayka Sanchez
+/. 13 c.1561G>A r.(?) p.(Asp521Asn) Parent #2 - pathogenic g.37469593C>T g.37073553C>T - - TMPRSS6_000026 - PubMed: Finberg 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Finberg 2008 family, 2 affecteds - - - Europe, north - - - - 2 Mayka Sanchez
+?/. 13 c.1562A>G r.(?) p.(Asp521Gly) Paternal (inferred) - likely pathogenic g.37469592T>C g.37073552T>C - - TMPRSS6_000010 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - F - Spain - - - - - 1 Mayka Sanchez
+/. 13 c.1562A>G r.(?) p.(Asp521Gly) Maternal (inferred) - pathogenic g.37469592T>C g.37073552T>C - - TMPRSS6_000010 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - F - Spain - - - - - 1 Mayka Sanchez
-/. - c.1563C>T r.(?) p.(Asp521=) Unknown - benign g.37469591G>A g.37073551G>A TMPRSS6(NM_153609.4):c.1536C>T (p.D512=) - TMPRSS6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1563C>T r.(?) p.(Asp521=) Unknown - benign g.37469591G>A g.37073551G>A TMPRSS6(NM_153609.4):c.1536C>T (p.D512=) - TMPRSS6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1564G>A r.(?) p.(Glu522Lys) Parent #2 - pathogenic g.37469590C>T g.37073550C>T - - TMPRSS6_000029 - PubMed: Silvestri 2009 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Silvestri 2009 family, 1 affected - - France - - - - - 1 Mayka Sanchez
+/. 13 c.1564G>A r.(?) p.(Glu522Lys) Parent #2 - pathogenic g.37469590C>T g.37073550C>T - - TMPRSS6_000029 - PubMed: Khuong-Quang 2013 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Khuong-Quang 2013 family, 2 affecteds - - Canada French-Canadian - - - - 2 Mayka Sanchez
+/. 13i c.1582+1G>A r.spl p.? Parent #2 - pathogenic g.37469571C>T g.37073531C>T - - TMPRSS6_000036 - PubMed: Beutler 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Beutler 2010 family, 2 affecteds - - Belgium - - - - - 2 Mayka Sanchez
+/. 13i c.1582+1G>A r.spl p.? Parent #2 - pathogenic g.37469571C>T g.37073531C>T - - TMPRSS6_000036 - PubMed: Finberg 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Finberg 2008 family, 2 affecteds - - - Europe, north - - - - 2 Mayka Sanchez
-?/. - c.1661G>A r.(?) p.(Arg554Gln) Unknown - likely benign g.37466994C>T g.37070954C>T TMPRSS6(NM_153609.2):c.1661G>A (p.(Arg554Gln)) - TMPRSS6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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