Unique variants in the HNF1A gene

Information The variants shown are described using the NM_000545.5 transcript reference sequence.

420 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.? r.(?) p.(Gly319Ser) - VUS g.? - - - ALX1_000001 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
+/?, -/?, ?/? 9 1, 3i, 7i, 9i c.? r.(?), r.? p.(=), p.? - benign, pathogenic, VUS g.? - c.1+102G>C, c.1+107delG, c.1+45G>A, c.1+46C>A, c.1+8T>C, c.1502-19G>A, c.1769-44C>T, 2 more items - HNF1A_000001, HNF1A_000002, HNF1A_000003, HNF1A_000004, HNF1A_000005, HNF1A_000054, HNF1A_000060, 2 more items - Godart 1998, Gragnoli 1997, Kawasaki 1999, M. Losekoot, Yamada 1997b, Yoshiuchi 1999 - - Germline - - - - - Monique Losekoot
?/? 1 2 c.-528_-527dup r.(=) p.(=) - VUS g.121416044_121416045dup g.120978241_120978242dup - - HNF1A_000057 - M. Losekoot - - Germline - - - - - Monique Losekoot
-/- 1 _1 c.-305G>T r.(=) p.(=) - benign g.121416267G>T g.120978464G>T - - HNF1A_000243 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/+ 1 _1 c.-291T>C r.(=) p.(=) - pathogenic g.121416281T>C g.120978478T>C - - HNF1A_000336 - - - - Germline - - - - - Kevin Colclough
+/+ 2 _1 c.-287G>A r.(=) p.(=) - pathogenic g.121416285G>A g.120978482G>A - - HNF1A_000337 - - - - Germline - - - - - Kevin Colclough
+/+ 1 _1 c.-286_-285del r.(=) p.(=) - pathogenic g.121416286_121416287del g.120978483_120978484del - - HNF1A_000338 - - - - Germline - - - - - Kevin Colclough
+/+ 1 _1 c.-258A>G r.(=) p.(=) - pathogenic g.121416314A>G g.120978511A>G - - HNF1A_000339 - - - - Germline - - - - - Kevin Colclough
+?/+? 1 Promoter c.-230_-101del r.? p.0? - likely pathogenic g.121416342_121416471del g.120978539_120978668del - - HNF1A_000418 Deletes the minimal promoter region of HNF1A - - - Germline yes - - - - Kevin Colclough
-/-, -/. 12 1, _1 c.-160_-154dup r.(=), r.(?) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup c.160_1-154dupTGGGGGT, HNF1A(NM_001306179.2):c.-161_-155dupTTGGGGG - HNF1A_000023 VKGL data sharing initiative Nederland M. Losekoot - - CLASSIFICATION record, Germline - - - - - Monique Losekoot, VKGL-NL_Utrecht
+/+ 8 _1_1i c.(?_-23)_(326+1_372-1)del r.0? p.0? - pathogenic g.(?_121416549)_(121416898_121426680)del - - - HNF1A_000173 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - - - Kevin Colclough
+/+ 5 _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - - - Kevin Colclough
-/- 1 1 c.-6C>T r.(?) p.(=) - benign g.121416566C>T g.120978763C>T - - HNF1A_000301 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
?/? 4 1 c.-4A>G r.(?) p.(=) - VUS g.121416568A>G g.120978765A>G - - HNF1A_000273 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
-/-, ?/? 12 1, 2, 3, 4i c.? r.(?) p.(=), p.? - benign, VUS g.? - c.145G>A, c.277C>T, c.956-27C>T - HNF1A_000016, HNF1A_000017, HNF1A_000022, HNF1A_000025, HNF1A_000029, HNF1A_000034, HNF1A_000037, 4 more items - M. Losekoot - - Germline - - - - - Monique Losekoot
+/+ 1 1 c.1A>T r.(?) p.0? - pathogenic g.121416572A>T g.120978769A>T - - HNF1A_000340 - - - - Germline - - - - - Kevin Colclough
+/+ 2 1 c.2T>C r.(?) p.0? - pathogenic g.121416573T>C g.120978770T>C Met1Thr - HNF1A_000094, HNF1A_000341 - M. Losekoot - - Germline - - - - - Monique Losekoot, Kevin Colclough
+/+ 1 1 c.14T>G r.(?) p.(Leu5Arg) - pathogenic g.121416585T>G g.120978782T>G - - HNF1A_000342 - - - - Germline - - - - - Kevin Colclough
+?/. 1 - c.16A>C r.(?) p.(Ser6Arg) - likely pathogenic g.121416587A>C - - - HNF1A_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 1 c.19C>T r.(?) p.(Gln7*) - pathogenic g.121416590C>T g.120978787C>T - - HNF1A_000090 - PubMed: Vaxillaire 1997 - - Germline - - - - - Monique Losekoot
?/? 1 1 c.23T>C r.(?) p.(Leu8Pro) - VUS g.121416594T>C g.120978791T>C - - HNF1A_000091 - M. Losekoot - - Germline - - - - - Monique Losekoot
+/+ 1 1 c.25C>T r.(?) p.(Gln9*) - pathogenic g.121416596C>T g.120978793C>T - - HNF1A_000239 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+?/+? 2 1 c.26A>C r.(?) p.(Gln9Pro) - likely pathogenic g.121416597A>C g.120978794A>C - - HNF1A_000240 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - Kevin Colclough
?/? 1 1 c.26A>G r.(?) p.(Gln9Arg) - VUS g.121416597A>G g.120978794A>G - - HNF1A_000092 - M. Losekoot - - Germline - - - - - Monique Losekoot
+?/+? 1 1 c.28A>C r.(?) p.(Thr10Pro) - likely pathogenic g.121416599A>C g.120978796A>C - - HNF1A_000241 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+?/+? 1 1 c.29C>T r.(?) p.(Thr10Met) - likely pathogenic g.121416600C>T g.120978797C>T - - HNF1A_000242 - PubMed: Bellanne-Chantelot 2008; PubMed: Ellard & Colclough 2006. - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.34C>T r.(?) p.(Leu12Phe) - pathogenic g.121416605C>T g.120978802C>T - - HNF1A_000254 - PubMed: Bellanne-Chantelot 2008;Johansen 2005. J Clin Endocrinol Metab, 90:4607-4614. - - Germline - - - - - Kevin Colclough
+/? 2 1 c.35T>A r.(?) p.(Leu12His) - pathogenic g.121416606T>A g.120978803T>A - - HNF1A_000105 - Yamada 1999, PubMed: Iwasaki 1997 - - Germline - - - - - Monique Losekoot
-/- 25 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - - - Monique Losekoot
+/+ 1 1 c.42_51delinsTG r.(?) p.(Ala15Glyfs*15) - pathogenic g.121416613_121416622delinsTG g.120978810_120978819delinsTG - - HNF1A_000261 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.44C>T r.(?) p.(Ala15Val) - pathogenic g.121416615C>T g.120978812C>T - - HNF1A_000343 - - - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.47T>C r.(?) p.(Leu16Pro) - pathogenic g.121416618T>C g.120978815T>C - - HNF1A_000344 - - - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.50T>A r.(?) p.(Leu17His) - pathogenic g.121416621T>A g.120978818T>A - - HNF1A_000275 - PubMed: Bellanne-Chantelot 2008. - - Germline - - - - - Kevin Colclough
-/-, -/., -/? 637 1 c.51C>G r.(?) p.(=), p.(Leu17=) - benign g.121416622C>G g.120978819C>G HNF1A(NM_000545.5):c.51C>G (p.L17=) - HNF1A_000126 VKGL data sharing initiative Nederland M. Losekoot, PubMed: Yamagata 1996 - - CLASSIFICATION record, Germline - - - - - Monique Losekoot, VKGL-NL_Groningen
+?/., ?/? 3 3 c.59G>A r.(?) p.(Gly20Glu) - likely pathogenic, VUS g.121416630G>A g.120978827G>A HNF1A(NM_000545.5):c.59G>A (p.(Gly20Glu)) - HNF1A_000135 VKGL data sharing initiative Nederland M. Losekoot - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Monique Losekoot
-/- 1 1 c.66C>A r.(?) p.(Ser22Arg) - benign g.121416637C>A g.120978834C>A - - HNF1A_000071 - M. Losekoot - - Germline - - - - - Monique Losekoot
-/-, -/., -/? 454 1 c.79A>C r.(?) p.(Ile27Leu) - benign g.121416650A>C g.120978847A>C HNF1A(NM_000545.5):c.79A>C (p.I27L) - HNF1A_000151 VKGL data sharing initiative Nederland M. Losekoot, PubMed: Yamagata 1996 - - CLASSIFICATION record, Germline - - - - - Monique Losekoot, VKGL-NL_Groningen
-/- 2 1 c.79A>G r.(?) p.(Ile27Val) - benign g.121416650A>G g.120978847A>G - - HNF1A_000151 - M. Losekoot - - Germline - - - - - Monique Losekoot
+?/+? 1 1 c.85G>C r.(?) p.(Ala29Pro) - likely pathogenic g.121416656G>C g.120978853G>C - - HNF1A_000325 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/+, -/-, -?/., ?/. 11 1 c.92G>A r.(?) p.(Gly31Asp) - benign, likely benign, pathogenic, VUS g.121416663G>A g.120978860G>A HNF1A(NM_000545.5):c.92G>A (p.(Gly31Asp)), HNF1A(NM_001306179.1):c.92G>A (p.G31D) - HNF1A_000164 VKGL data sharing initiative Nederland K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital, M. Losekoot, 2 more items - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Monique Losekoot, Kevin Colclough
-/- 1 1 c.92G>C r.(?) p.(Gly31Ala) - benign g.121416663G>C g.120978860G>C - - HNF1A_000331 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.94G>T r.(?) p.(Glu32*) - pathogenic g.121416665G>T g.120978862G>T - - HNF1A_000332 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.137A>C r.(?) p.(Lys46Thr) - pathogenic g.121416708A>C g.120978905A>C - - HNF1A_000345 - - - - Germline - - - - - Kevin Colclough
+?/+? 2 1 c.139G>C r.(?) p.(Gly47Arg) - likely pathogenic g.121416710G>C g.120978907G>C - - HNF1A_000200 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/?, ?/? 3 1 c.142G>A r.(?) p.(Glu48Lys) - pathogenic, VUS g.121416713G>A g.120978910G>A - - HNF1A_000045 - M. Losekoot, Moller 1998 - - Germline - - - - - Monique Losekoot
-/- 2 1 c.150C>T r.(?) p.(=) - benign g.121416721C>T g.120978918C>T - - HNF1A_000212 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
-/- 1 1 c.155_156delinsCT r.(?) p.(Gly52Ala) - benign g.121416726_121416727delinsCT g.120978923_120978924delinsCT - - HNF1A_000359 - - - - Germline - - - - - Kevin Colclough
-?/. 1 - c.156C>T r.(?) p.(Gly52=) - likely benign g.121416727C>T - HNF1A(NM_000545.5):c.156C>T (p.(=)) - HNF1A_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 11 1 c.160C>T r.(?) p.(Arg54*) - pathogenic g.121416731C>T g.120978928C>T - - HNF1A_000220 - Lambert 2003. Diabetes Care, 26:333-337. - - Germline - - - - - Kevin Colclough
+/? 1 1 c.164_168del r.(?) p.(Gly55Alafs*3) - pathogenic g.121416735_121416739del g.120978932_120978936del c.161_165delGAGGG - HNF1A_000062 - PubMed: Vaxillaire 1997 - - Germline - - - - - Monique Losekoot
+?/. 1 - c.169del r.(?) p.(Leu57Trpfs*98) - likely pathogenic g.121416740del g.120978937del - - HNF1A_000419 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922588 Germline - 1/2772 individuals - - - Mohammed Faruq
+?/+? 1 1 c.185A>G r.(?) p.(Asn62Ser) - likely pathogenic g.121416756A>G g.120978953A>G - - HNF1A_000235 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - Kevin Colclough
+/+ 8 1 c.185del r.(?) p.(Asn62Metfs*93) - pathogenic g.121416756del g.120978953del - - HNF1A_000236 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+?/+? 1 1 c.194G>A r.(?) p.(Gly65Glu) - likely pathogenic g.121416765G>A g.120978962G>A - - HNF1A_000237 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.196dup r.(?) p.(Glu66Glyfs*30) - pathogenic g.121416767dup g.120978964dup - - HNF1A_000238 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - Kevin Colclough
+/. 1 - c.197dup r.(?) p.(Thr67AspfsTer29) - pathogenic g.121416768dup g.120978965dup HNF1A(NM_000545.5):c.196_197insA (p.(Thr67AspfsTer29)) - HNF1A_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.252C>T r.(?) p.(Pro84=) - likely benign g.121416823C>T - HNF1A(NM_000545.5):c.252C>T (p.(=)) - HNF1A_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.276C>T r.(?) p.(Leu92=) - likely benign g.121416847C>T g.120979044C>T HNF1A(NM_000545.5):c.276C>T (p.(=)) - HNF1A_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.287A>C r.(?) p.(Glu96Ala) - likely benign g.121416858A>C g.120979055A>C HNF1A(NM_000545.5):c.287A>C (p.(Glu96Ala)) - HNF1A_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+, -/., -/? 50 1 c.293C>T r.(?) p.(Ala98Val) - benign, pathogenic g.121416864C>T g.120979061C>T HNF1A(NM_000545.5):c.293C>T (p.(Ala98Val)), HNF1A(NM_001306179.2):c.293C>T (p.A98V) - HNF1A_000093 VKGL data sharing initiative Nederland M. Losekoot, PubMed: Yamagata 1996 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Monique Losekoot, VKGL-NL_Utrecht
-/- 1 1 c.306C>T r.(?) p.(=) - benign g.121416877C>T g.120979074C>T - - HNF1A_000244 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/? 1 1 c.319C>A r.(?) p.(Leu107Ile) - pathogenic g.121416890C>A g.120979087C>A - - HNF1A_000095 - Lehto 1999 - - Germline - - - - - Monique Losekoot
+/? 1 1 c.320T>G r.(?) p.(Leu107Arg) - pathogenic g.121416891T>G g.120979088T>G - - HNF1A_000096 - Glucksmann 1997 - - Germline - - - - - Monique Losekoot
+/+ 1 1 c.323T>C r.(?) p.(Leu108Pro) - pathogenic g.121416894T>C g.120979091T>C - - HNF1A_000346 - - - - Germline - - - - - Kevin Colclough
+/+ 1 1 c.325C>T r.(?) p.(Gln109*) - pathogenic g.121416896C>T g.120979093C>T - - HNF1A_000245 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/+, +?/. 4 1i c.326+1G>A r.spl, r.spl? p.? - likely pathogenic, pathogenic g.121416898G>A g.120979095G>A HNF1A(NM_000545.5):c.326+1G>A (p.?) - HNF1A_000246 VKGL data sharing initiative Nederland K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Kevin Colclough
+/+ 1 1i c.326+1G>C r.spl p.? - pathogenic g.121416898G>C g.120979095G>C - - HNF1A_000247 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
-?/. 1 - c.326+6_326+10dup r.(=) p.(=) - likely benign g.121416903_121416907dup g.120979100_120979104dup HNF1A(NM_000545.5):c.326+5_326+6insGAGCC (p.?) - HNF1A_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/? 3 1i c.326+20C>A r.(=), r.(?) p.(=) - likely benign, VUS g.121416917C>A g.120979114C>A HNF1A(NM_000545.5):c.326+20C>A (p.(=)) - HNF1A_000097 VKGL data sharing initiative Nederland M. Losekoot - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Monique Losekoot
-/? 1 1i c.327-91G>A r.(?) p.(=) - benign g.121426545G>A g.120988742G>A c.327-91A>G - HNF1A_000102 - PubMed: Yamagata 1996 - - Germline - - - - - Monique Losekoot
-/? 1 1i c.327-52T>G r.(?) p.(=) - benign g.121426584T>G g.120988781T>G - - HNF1A_000101 - Frayling 1997a - - Germline - - - - - Monique Losekoot
-/- 2 1i c.327-51A>T r.(?) p.(=) - benign g.121426585A>T g.120988782A>T - - HNF1A_000100 - M. Losekoot - - Germline - - - - - Monique Losekoot
-/? 1 1i c.327-42G>A r.(?) p.(=) - benign g.121426594G>A g.120988791G>A - - HNF1A_000099 - PubMed: Yamagata 1996 - - Germline - - - - - Monique Losekoot
-?/. 1 - c.327-18G>A r.(=) p.(=) - likely benign g.121426618G>A - HNF1A(NM_000545.5):c.327-18G>A (p.(=)) - HNF1A_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/? 1 1i c.327-12del r.(=) p.(=) - benign g.121426624del g.120988821del - - HNF1A_000098 - Lehto 1999 - - Germline - - - - - Monique Losekoot
+/+ 1 1i c.327-1G>A r.spl p.? - pathogenic g.121426635G>A g.120988832G>A - - HNF1A_000249 - PubMed: Ellard & Colclough 2006. - - Germline - - - - - Kevin Colclough
+/+ 1 2 c.332A>G r.(?) p.(Asp111Gly) - pathogenic g.121426641A>G g.120988838A>G - - HNF1A_000347 - - - - Germline - - - - - Kevin Colclough
+/+, +/. 20 2 c.335C>T r.(?) p.(Pro112Leu) - pathogenic g.121426644C>T g.120988841C>T HNF1A(NM_000545.5):c.335C>T (p.(Pro112Leu)) - HNF1A_000103 VKGL data sharing initiative Nederland M. Losekoot, PubMed: Bellanne-Chantelot 2008, PubMed: Bjorkhaug 2000,PubMed: Xu 2002 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Monique Losekoot, Kevin Colclough, Lucas Santana
-/-, -?/. 3 2 c.336G>A r.(?) p.(=), p.(Pro112=) - benign, likely benign g.121426645G>A g.120988842G>A HNF1A(NM_000545.5):c.336G>A (p.(=)) - HNF1A_000250 VKGL data sharing initiative Nederland K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Kevin Colclough
+?/+?, -/-, -?/. 7 2 c.341G>A r.(?) p.(Arg114His) - benign, likely benign, likely pathogenic g.121426650G>A g.120988847G>A HNF1A(NM_000545.5):c.341G>A (p.(Arg114His)) - HNF1A_000251 VKGL data sharing initiative Nederland K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Kevin Colclough
+?/+? 3 2 c.343G>T r.(?) p.(Val115Leu) - likely pathogenic g.121426652G>T g.120988849G>T - - HNF1A_000252 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - Kevin Colclough
+/+ 22 2 c.347C>T r.(?) p.(Ala116Val) - pathogenic g.121426656C>T g.120988853C>T - - HNF1A_000253 - 1 more item - - Germline - - - - - Kevin Colclough
+/+, +/? 6 2 c.349A>G r.(?) p.(Lys117Glu) - pathogenic g.121426658A>G g.120988855A>G - - HNF1A_000104 - Yoshiuchi 1999, PubMed: Ellard 1999. - - Germline - - - - - Monique Losekoot, Kevin Colclough
+/+ 13 1i_10_ c.(326+1_372-1)_(*1320_?)del r.? p.? - pathogenic g.(121416898_121426680)_(121440315_?)del - - - HNF1A_000248 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - - - Kevin Colclough
+/. 1 - c.360del r.(?) p.(Lys120AsnfsTer35) - pathogenic g.121426669del g.120988866del HNF1A(NM_000545.5):c.360delG (p.(Lys120AsnfsTer35)) - HNF1A_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 2 c.365A>G r.(?) p.(Tyr122Cys) - pathogenic g.121426674A>G g.120988871A>G - - HNF1A_000106 - Barbetti 1998, PubMed: Vaxillaire 1997 - - Germline - - - - - Monique Losekoot
?/? 1 2 c.367C>G r.(?) p.(Leu123Val) - VUS g.121426676C>G g.120988873C>G - - HNF1A_000107 - M. Losekoot - - Germline - - - - - Monique Losekoot
?/? 1 2 c.373C>T r.(?) p.(Gln125*) - VUS g.121426682C>T g.120988879C>T - - HNF1A_000039 - M. Losekoot - - Germline - - - - - Monique Losekoot
+?/+? 8 2 c.375_377dup r.(?) p.(Gln125dup) - likely pathogenic g.121426684_121426686dup g.120988881_120988883dup - - HNF1A_000255 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+?/. 1 2 c.376C>G r.(?) p.(His126Asp) - likely pathogenic (dominant) g.121426685C>G g.120988882C>G - - HNF1A_000416 - - - - Germline yes - - - - Clara Tan
-/? 1 2 c.378C>T r.(?) p.(=) - benign g.121426687C>T g.120988884C>T - - HNF1A_000108 - Frayling 1997a - - Germline - - - - - Monique Losekoot
+/+ 2 2 c.380_382del r.(?) p.(Asn127del) - pathogenic g.121426689_121426691del g.120988886_120988888del - - HNF1A_000256 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - Kevin Colclough
+/? 1 2 c.383T>C r.(?) p.(Ile128Thr) - pathogenic g.121426692T>C g.120988889T>C - - HNF1A_000109 - Hansen 1997 - - Germline - - - - - Monique Losekoot
+/+ 1 2 c.385C>A r.(?) p.(Pro129Thr) - pathogenic g.121426694C>A g.120988891C>A - - HNF1A_000257 - K. Colclough, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital - - Germline - - - - - Kevin Colclough
+/? 1 2 c.388C>A r.(?) p.(Gln130Lys) - pathogenic g.121426697C>A g.120988894C>A - - HNF1A_000110 - Frayling 1997a - - Germline - - - - - Monique Losekoot
+/+ 1 2 c.388C>T r.(?) p.(Gln130*) - pathogenic g.121426697C>T g.120988894C>T - - HNF1A_000356 - - - - Germline - - - - - Kevin Colclough
+/+, +/., +/? 27 2 c.391C>T r.(?) p.(Arg131Trp) - pathogenic g.121426700C>T g.120988897C>T HNF1A(NM_000545.5):c.391C>T (p.(Arg131Trp)) - HNF1A_000111 VKGL data sharing initiative Nederland Frayling 1997a, Glucksmann 1997, M. Losekoot, 1 more item - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Monique Losekoot, Kevin Colclough
+/+, +/., +/? 9 2 c.392G>A r.(?) p.(Arg131Gln) - pathogenic g.121426701G>A g.120988898G>A HNF1A(NM_000545.5):c.392G>A (p.(Arg131Gln)) - HNF1A_000112 VKGL data sharing initiative Nederland M. Losekoot, PubMed: Bellanne-Chantelot 2008., 1 more item - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Monique Losekoot, Kevin Colclough
+/+ 4 2 c.394G>A r.(?) p.(Glu132Lys) - pathogenic g.121426703G>A g.120988900G>A - - HNF1A_000394 - Frayling 2001. Diabetes 50(Suppl 1):S94-100;Pearson 2007. PLoS Med, 4:e118. - - Germline - - - - - Kevin Colclough
+/+ 1 2 c.399_405del r.(?) p.(Val134Profs*19) - pathogenic g.121426708_121426714del g.120988905_120988911del - - HNF1A_000258 - PubMed: Ellard & Colclough 2006 - - Germline - - - - - Kevin Colclough
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