All variants in the HNF1A gene

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

6325 entries on 64 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - c.? r.(?) p.(Gly319Ser) - VUS g.? - - - ALX1_000001 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
+/? 1 c.? r.(?) p.? - pathogenic g.? - c.58A>C - HNF1A_000060 - Gragnoli 1997 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+8T>C - HNF1A_000005 - Godart 1998 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+45G>A - HNF1A_000003 - Kawasaki 1999 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+46C>A - HNF1A_000004 - - - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+102G>C - HNF1A_000001 - Yoshiuchi 1999 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.? r.? p.? - pathogenic g.? - c.1+107delG - HNF1A_000002 - Godart 1998 - - Germline - - - 0 - Monique Losekoot
-/? 9i c.? r.(?) p.(=) - benign g.? - c.1769-44C>T - HNF1A_000082 - Yamada 1997b - - Germline - - - 0 - Monique Losekoot
?/? 3i c.? r.(?) p.(=) - VUS g.? - c.714-63C>A - HNF1A_000143 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 7i c.? r.(?) p.(=) - VUS g.? - c.1502-19G>A - HNF1A_000054 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 2 c.-528_-527dup r.(=) p.(=) - VUS g.121416044_121416045dup g.120978241_120978242dup - - HNF1A_000057 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- _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 - - - 0 - Kevin Colclough
+/+ _1 c.-291T>C r.(=) p.(=) - pathogenic g.121416281T>C g.120978478T>C - - HNF1A_000336 - - - - Germline - - - 0 - Kevin Colclough
+/+ _1 c.-287G>A r.(=) p.(=) - pathogenic g.121416285G>A g.120978482G>A - - HNF1A_000337 - - - - Germline - - - 0 - Kevin Colclough
+/+ _1 c.-287G>A r.(=) p.(=) - pathogenic g.121416285G>A g.120978482G>A - - HNF1A_000337 - - - - Germline - - - 0 - Kevin Colclough
+/+ _1 c.-286_-285del r.(=) p.(=) - pathogenic g.121416286_121416287del g.120978483_120978484del - - HNF1A_000338 - - - - Germline - - - 0 - Kevin Colclough
+/+ _1 c.-258A>G r.(=) p.(=) - pathogenic g.121416314A>G g.120978511A>G - - HNF1A_000339 - - - - Germline - - - 0 - Kevin Colclough
+?/+? 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 - - 0 - Kevin Colclough
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup c.160_1-154dupTGGGGGT - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup c.160_1-154dupTGGGGGT - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup c.160_1-154dupTGGGGGT - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup c.160_1-154dupTGGGGGT - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup c.160_1-154dupTGGGGGT - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup - - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup - - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup - - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup - - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup - - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- _1 c.-160_-154dup r.(=) p.(=) - benign g.121416412_121416418dup g.120978609_120978615dup - - HNF1A_000023 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/. - c.-160_-154dup r.(?) p.(=) - benign g.121416412_121416418dup - HNF1A(NM_001306179.2):c.-161_-155dupTTGGGGG - HNF1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ _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 - - - 0 - Kevin Colclough
+/+ _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 - - - 0 - Kevin Colclough
+/+ _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 - - - 0 - Kevin Colclough
+/+ _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 - - - 0 - Kevin Colclough
+/+ _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 - - - 0 - Kevin Colclough
+/+ _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 - - - 0 - Kevin Colclough
+/+ _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 - - - 0 - Kevin Colclough
+/+ _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 - - - 0 - Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
+/+ _1_10_ c.(?_-23)_(*1320_?)del r.0? p.0? - pathogenic g.(?_121416549)_(121440315_?)del - - - HNF1A_000172 - Ellard 2007. Diabetologia, 50:2313-2317. - - Germline - - - 0 - Kevin Colclough
-/- 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 - - - 0 - Kevin Colclough
?/? 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 - - - 0 - Kevin Colclough
?/? 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 - - - 0 - Kevin Colclough
?/? 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 - - - 0 - Kevin Colclough
?/? 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 - - - 0 - Kevin Colclough
?/? 4i c.? r.(?) p.(=) - VUS g.? - c.956-27C>T - HNF1A_000167 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - c.277C>T - HNF1A_000029 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.? r.(?) p.? - benign g.? - c.145G>A - HNF1A_000022 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000050 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 3 c.? r.(?) p.? - benign g.? - - - HNF1A_000068 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000016 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 2 c.? r.(?) p.? - VUS g.? - - - HNF1A_000037 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000034 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 2 c.? r.(?) p.? - benign g.? - - - HNF1A_000056 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000025 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000017 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
?/? 1 c.? r.(?) p.? - VUS g.? - - - HNF1A_000034 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.1A>T r.(?) p.0? - pathogenic g.121416572A>T g.120978769A>T - - HNF1A_000340 - - - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.2T>C r.(?) p.0? - pathogenic g.121416573T>C g.120978770T>C Met1Thr - HNF1A_000094 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 1 c.2T>C r.(?) p.0? - pathogenic g.121416573T>C g.120978770T>C - - HNF1A_000341 - - - - Germline - - - 0 - Kevin Colclough
+/+ 1 c.14T>G r.(?) p.(Leu5Arg) - pathogenic g.121416585T>G g.120978782T>G - - HNF1A_000342 - - - - Germline - - - 0 - Kevin Colclough
+?/. - c.16A>C r.(?) p.(Ser6Arg) - likely pathogenic g.121416587A>C - - - HNF1A_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 c.19C>T r.(?) p.(Gln7*) - pathogenic g.121416590C>T g.120978787C>T - - HNF1A_000090 - PubMed: Vaxillaire 1997 - - Germline - - - 0 - Monique Losekoot
?/? 1 c.23T>C r.(?) p.(Leu8Pro) - VUS g.121416594T>C g.120978791T>C - - HNF1A_000091 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+/+ 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 - - - 0 - Kevin Colclough
+?/+? 1 c.26A>C r.(?) p.(Gln9Pro) - likely pathogenic g.121416597A>C g.120978794A>C - - HNF1A_000240 - PubMed: Ellard & Colclough 2006 - - Germline - - - 0 - Kevin Colclough
+?/+? 1 c.26A>C r.(?) p.(Gln9Pro) - likely pathogenic g.121416597A>C g.120978794A>C - - HNF1A_000240 - PubMed: Ellard & Colclough 2006 - - Germline - - - 0 - Kevin Colclough
?/? 1 c.26A>G r.(?) p.(Gln9Arg) - VUS g.121416597A>G g.120978794A>G - - HNF1A_000092 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
+?/+? 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 - - - 0 - Kevin Colclough
+?/+? 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 - - - 0 - Kevin Colclough
+/+ 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 - - - 0 - Kevin Colclough
+/? 1 c.35T>A r.(?) p.(Leu12His) - pathogenic g.121416606T>A g.120978803T>A - - HNF1A_000105 - PubMed: Iwasaki 1997 - - Germline - - - 0 - Monique Losekoot
+/? 1 c.35T>A r.(?) p.(Leu12His) - pathogenic g.121416606T>A g.120978803T>A - - HNF1A_000105 - Yamada 1999 - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
-/- 1 c.42G>A r.(?) p.(=) - benign g.121416613G>A g.120978810G>A - - HNF1A_000046 - M. Losekoot - - Germline - - - 0 - Monique Losekoot
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