HNF1A[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 149331.	NG_011731.2:g.4741A>C GRCh37: Chr12:121416289 GRCh38: Chr12:120978486	HNF1A		Monogenic diabetes	Likely pathogenic (Aug 18, 2021)	reviewed by expert panel FDA Recognized Database
Select item 149362.	NM_000545.8(HNF1A):c.-119del GRCh37: Chr12:121416447 GRCh38: Chr12:120978644	HNF1A		Maturity-onset diabetes of the young type 3	Pathogenic (Jan 1, 2000)	no assertion criteria provided
Select item 13429483.	NM_000545.8(HNF1A):c.1A>C (p.Met1Leu) GRCh37: Chr12:121416572 GRCh38: Chr12:120978769	HNF1A	M1L	Monogenic diabetes	Likely pathogenic (Mar 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 5025254.	NM_000545.8(HNF1A):c.1A>T (p.Met1Leu) GRCh37: Chr12:121416572 GRCh38: Chr12:120978769	HNF1A	M1L	Monogenic diabetes	Pathogenic (Mar 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 368145.	NM_000545.8(HNF1A):c.1A>G (p.Met1Val) GRCh37: Chr12:121416572 GRCh38: Chr12:120978769	HNF1A	M1V	Monogenic diabetes	Pathogenic (Mar 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 13429496.	NM_000545.8(HNF1A):c.2T>C (p.Met1Thr) GRCh37: Chr12:121416573 GRCh38: Chr12:120978770	HNF1A	M1T	Monogenic diabetes	Pathogenic (Aug 26, 2022)	reviewed by expert panel FDA Recognized Database
Select item 4474937.	NM_000545.8(HNF1A):c.4del (p.Val2fs) GRCh37: Chr12:121416574 GRCh38: Chr12:120978771	HNF1A	V2fs	Monogenic diabetes	Pathogenic (Feb 22, 2022)	reviewed by expert panel FDA Recognized Database
Select item 13429508.	NM_000545.8(HNF1A):c.16A>T (p.Ser6Cys) GRCh37: Chr12:121416587 GRCh38: Chr12:120978784	HNF1A	S6C	Monogenic diabetes	Likely pathogenic (Mar 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 13429519.	NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn) GRCh37: Chr12:121416588 GRCh38: Chr12:120978785	HNF1A	S6N	Monogenic diabetes	Likely pathogenic (Mar 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 133840710.	NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup) GRCh37: Chr12:121416590-121416591 GRCh38: Chr12:120978787-120978788	HNF1A		Monogenic diabetes	Likely pathogenic (Mar 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 56237211.	NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter) GRCh37: Chr12:121416590 GRCh38: Chr12:120978787	HNF1A	Q7*	Monogenic diabetes	Pathogenic (Mar 18, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167506012.	NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter) GRCh37: Chr12:121416596 GRCh38: Chr12:120978793	HNF1A	Q9*	Monogenic diabetes	Pathogenic (Mar 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167955013.	NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu) GRCh37: Chr12:121416597 GRCh38: Chr12:120978794	HNF1A	Q9L	Maturity-onset diabetes of the young type 3	Likely pathogenic	criteria provided, single submitter
Select item 167506114.	NM_000545.8(HNF1A):c.28A>C (p.Thr10Pro) GRCh37: Chr12:121416599 GRCh38: Chr12:120978796	HNF1A	T10P	Monogenic diabetes	Likely pathogenic (Mar 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167506315.	NM_000545.8(HNF1A):c.34C>T (p.Leu12Phe) GRCh37: Chr12:121416605 GRCh38: Chr12:120978802	HNF1A	L12F	Monogenic diabetes	Likely pathogenic (Mar 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167506216.	NM_000545.8(HNF1A):c.34C>G (p.Leu12Val) GRCh37: Chr12:121416605 GRCh38: Chr12:120978802	HNF1A	L12V	Monogenic diabetes	Likely pathogenic (Mar 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167505117.	NM_000545.8(HNF1A):c.35T>G (p.Leu12Arg) GRCh37: Chr12:121416606 GRCh38: Chr12:120978803	HNF1A	L12R	Monogenic diabetes	Likely pathogenic (Mar 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167505318.	NM_000545.8(HNF1A):c.42_51delinsTG (p.Ala15fs) GRCh37: Chr12:121416613-121416622 GRCh38: Chr12:120978810-120978819	HNF1A	A15fs	Monogenic diabetes	Pathogenic (Mar 31, 2022)	reviewed by expert panel FDA Recognized Database
Select item 92907819.	NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter) GRCh37: Chr12:121416623 GRCh38: Chr12:120978820	HNF1A	E18*	Maturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 3	Pathogenic/Likely pathogenic (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132759920.	NM_000545.8(HNF1A):c.58G>C (p.Gly20Arg) GRCh37: Chr12:121416629 GRCh38: Chr12:120978826	HNF1A	G20R	Monogenic diabetes	Likely pathogenic (Aug 18, 2021)	reviewed by expert panel FDA Recognized Database
Select item 103309021.	NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg) GRCh37: Chr12:121416629 GRCh38: Chr12:120978826	HNF1A	G20R	Monogenic diabetes	Pathogenic (Aug 18, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132759822.	NM_000545.8(HNF1A):c.59G>A (p.Gly20Glu) GRCh37: Chr12:121416630 GRCh38: Chr12:120978827	HNF1A	G20E	Monogenic diabetes	Likely pathogenic (Aug 18, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132759723.	NM_000545.8(HNF1A):c.59G>C (p.Gly20Ala) GRCh37: Chr12:121416630 GRCh38: Chr12:120978827	HNF1A	G20A	Monogenic diabetes	Likely pathogenic (Aug 18, 2021)	reviewed by expert panel FDA Recognized Database
Select item 56240924.	NM_000545.8(HNF1A):c.59G>T (p.Gly20Val) GRCh37: Chr12:121416630 GRCh38: Chr12:120978827	HNF1A	G20V	not provided	Likely pathogenic (Sep 16, 2018)	no assertion criteria provided
Select item 167505825.	NM_000545.8(HNF1A):c.71_72del (p.Glu24fs) GRCh37: Chr12:121416640-121416641 GRCh38: Chr12:120978837-120978838	HNF1A	E24fs	Monogenic diabetes	Pathogenic (Apr 1, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167668326.	NM_000545.8(HNF1A):c.77T>C (p.Leu26Pro) GRCh37: Chr12:121416648 GRCh38: Chr12:120978845	HNF1A	L26P	Monogenic diabetes	Likely pathogenic (Apr 2, 2022)	reviewed by expert panel FDA Recognized Database
Select item 134295227.	NM_000545.8(HNF1A):c.82C>T (p.Gln28Ter) GRCh37: Chr12:121416653 GRCh38: Chr12:120978850	HNF1A	Q28*	Monogenic diabetes	Likely pathogenic (Feb 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167670528.	NM_000545.8(HNF1A):c.94G>T (p.Glu32Ter) GRCh37: Chr12:121416665 GRCh38: Chr12:120978862	HNF1A	E32*	Monogenic diabetes	Pathogenic (Apr 2, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167670729.	NM_000545.8(HNF1A):c.98C>T (p.Pro33Leu) GRCh37: Chr12:121416669 GRCh38: Chr12:120978866	HNF1A	P33L	Monogenic diabetes	Likely pathogenic (Apr 2, 2022)	reviewed by expert panel FDA Recognized Database
Select item 133850830.	NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs) GRCh37: Chr12:121416676-121416686 GRCh38: Chr12:120978873-120978883	HNF1A	Y36fs	not provided	Pathogenic (Apr 18, 2019)	criteria provided, single submitter
Select item 167671231.	NM_000545.8(HNF1A):c.121G>T (p.Glu41Ter) GRCh37: Chr12:121416692 GRCh38: Chr12:120978889	HNF1A	E41*	Monogenic diabetes	Pathogenic (Apr 2, 2022)	reviewed by expert panel FDA Recognized Database
Select item 3679832.	NM_000545.8(HNF1A):c.130del (p.Leu44fs) GRCh37: Chr12:121416697 GRCh38: Chr12:120978894	HNF1A	L44fs	Monogenic diabetes	Pathogenic (Apr 2, 2022)	reviewed by expert panel FDA Recognized Database
Select item 168708133.	NM_000545.8(HNF1A):c.129_130delinsA (p.Leu44fs) GRCh37: Chr12:121416700-121416701 GRCh38: Chr12:120978897-120978898	HNF1A	L44fs	Monogenic diabetes	Pathogenic (May 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167704034.	NM_000545.8(HNF1A):c.139_155del (p.Gly47fs) GRCh37: Chr12:121416709-121416725 GRCh38: Chr12:120978906-120978922	HNF1A	G47fs	Maturity onset diabetes mellitus in young	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 1493835.	NM_000545.8(HNF1A):c.142del (p.Glu48fs) GRCh37: Chr12:121416709 GRCh38: Chr12:120978906	HNF1A	E48fs	Monogenic diabetes	Pathogenic (Apr 2, 2022)	reviewed by expert panel FDA Recognized Database
Select item 133774036.	NM_000545.8(HNF1A):c.146C>A (p.Ser49Tyr) GRCh37: Chr12:121416717 GRCh38: Chr12:120978914	HNF1A	S49Y	not provided	Likely pathogenic (Dec 9, 2020)	criteria provided, single submitter
Select item 177415737.	NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter) GRCh37: Chr12:121416721 GRCh38: Chr12:120978918	HNF1A	C50*	Maturity onset diabetes mellitus in young	Pathogenic (Mar 3, 2017)	criteria provided, single submitter
Select item 180252538.	NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly) GRCh37: Chr12:121416731 GRCh38: Chr12:120978928	HNF1A	R54G	Maturity onset diabetes mellitus in young	Pathogenic	criteria provided, single submitter
Select item 80563239.	NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter) GRCh37: Chr12:121416731 GRCh38: Chr12:120978928	HNF1A	R54*	Monogenic diabetes	Pathogenic (Dec 28, 2021)	reviewed by expert panel FDA Recognized Database
Select item 167668540.	NM_000545.8(HNF1A):c.164_168del (p.Gly55fs) GRCh37: Chr12:121416732-121416736 GRCh38: Chr12:120978929-120978933	HNF1A	G55fs	Monogenic diabetes	Pathogenic (Apr 2, 2022)	reviewed by expert panel FDA Recognized Database
Select item 3680941.	NM_000545.8(HNF1A):c.169del (p.Leu57fs) GRCh37: Chr12:121416740 GRCh38: Chr12:120978937	HNF1A	L57fs	Monogenic diabetes	Likely pathogenic (Apr 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167668642.	NM_000545.8(HNF1A):c.185del (p.Asn62fs) GRCh37: Chr12:121416755 GRCh38: Chr12:120978952	HNF1A	N62fs	Monogenic diabetes	Pathogenic (Apr 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167668743.	NM_000545.8(HNF1A):c.186del (p.Asn62fs) GRCh37: Chr12:121416757 GRCh38: Chr12:120978954	HNF1A	N62fs	Monogenic diabetes	Likely pathogenic (Apr 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167668944.	NM_000545.8(HNF1A):c.196dup (p.Glu66fs) GRCh37: Chr12:121416762-121416763 GRCh38: Chr12:120978959-120978960	HNF1A	E66fs	Monogenic diabetes	Pathogenic (Apr 3, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167669145.	NM_000545.8(HNF1A):c.206del (p.Gly69fs) GRCh37: Chr12:121416774 GRCh38: Chr12:120978971	HNF1A	G69fs	Monogenic diabetes	Likely pathogenic (Apr 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 208663046.	NM_000545.8(HNF1A):c.211G>T (p.Glu71Ter) GRCh37: Chr12:121416782 GRCh38: Chr12:120978979	HNF1A	E71*	not provided	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 167669447.	NM_000545.8(HNF1A):c.217G>T (p.Glu73Ter) GRCh37: Chr12:121416788 GRCh38: Chr12:120978985	HNF1A	E73*	Monogenic diabetes	Likely pathogenic (Apr 4, 2022)	reviewed by expert panel FDA Recognized Database
Select item 167669548.	NM_000545.8(HNF1A):c.259A>T (p.Lys87Ter) GRCh37: Chr12:121416830 GRCh38: Chr12:120979027	HNF1A	K87*	Monogenic diabetes	Likely pathogenic (Apr 6, 2022)	reviewed by expert panel FDA Recognized Database
Select item 203558149.	NM_000545.8(HNF1A):c.262G>T (p.Glu88Ter) GRCh37: Chr12:121416833 GRCh38: Chr12:120979030	HNF1A	E88*	not provided	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 167669650.	NM_000545.8(HNF1A):c.282dup (p.Glu95Ter) GRCh37: Chr12:121416852-121416853 GRCh38: Chr12:120979049-120979050	HNF1A	E95*	Monogenic diabetes	Likely pathogenic (Apr 7, 2022)	reviewed by expert panel FDA Recognized Database
Select item 3681751.	NM_000545.8(HNF1A):c.313dup (p.Glu105fs) GRCh37: Chr12:121416882-121416883 GRCh38: Chr12:120979079-120979080	HNF1A	E105fs	Monogenic diabetes	Likely pathogenic (Apr 7, 2022)	reviewed by expert panel FDA Recognized Database
Select item 132759352.	NM_000545.8(HNF1A):c.319C>A (p.Leu107Ile) GRCh37: Chr12:121416890 GRCh38: Chr12:120979087	HNF1A	L107I	Monogenic diabetes	Likely pathogenic (Aug 19, 2021)	reviewed by expert panel FDA Recognized Database
Select item 133414953.	NM_000545.8(HNF1A):c.320T>C (p.Leu107Pro) GRCh37: Chr12:121416891 GRCh38: Chr12:120979088	HNF1A	L107P	Monogenic diabetes	Likely pathogenic (Sep 15, 2021)	reviewed by expert panel FDA Recognized Database
Select item 133414854.	NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg) GRCh37: Chr12:121416891 GRCh38: Chr12:120979088	HNF1A	L107R	Monogenic diabetes	Likely pathogenic (Sep 15, 2021)	reviewed by expert panel FDA Recognized Database
Select item 169322355.	NM_000545.8(HNF1A):c.326+1G>A GRCh37: Chr12:121416898 GRCh38: Chr12:120979095	HNF1A		Monogenic diabetes	Pathogenic (Jun 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 169322256.	NM_000545.8(HNF1A):c.326+1G>C GRCh37: Chr12:121416898 GRCh38: Chr12:120979095	HNF1A		Monogenic diabetes	Pathogenic (Jun 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 133852057.	NM_000545.8(HNF1A):c.326+1G>T GRCh37: Chr12:121416898 GRCh38: Chr12:120979095	HNF1A		Monogenic diabetes	Pathogenic (Jun 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 44748658.	NM_000545.8(HNF1A):c.326+2T>G GRCh37: Chr12:121416899 GRCh38: Chr12:120979096	HNF1A		Monogenic diabetes	Likely pathogenic (Apr 7, 2022)	reviewed by expert panel FDA Recognized Database
Select item 80563559.	NM_000545.8(HNF1A):c.327-3_327-1del GRCh37: Chr12:121426633-121426635 GRCh38: Chr12:120988830-120988832	HNF1A		Maturity onset diabetes mellitus in young, not provided	Pathogenic/Likely pathogenic (Oct 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 168707260.	NM_000545.8(HNF1A):c.327-2A>T GRCh37: Chr12:121426634 GRCh38: Chr12:120988831	HNF1A		Monogenic diabetes	Likely pathogenic (Apr 17, 2022)	reviewed by expert panel FDA Recognized Database
Select item 180417061.	NM_000545.8(HNF1A):c.327-1G>A GRCh37: Chr12:121426635 GRCh38: Chr12:120988832	HNF1A		Monogenic diabetes	Pathogenic (Aug 5, 2022)	reviewed by expert panel FDA Recognized Database
Select item 168707362.	NM_000545.8(HNF1A):c.327-1G>T GRCh37: Chr12:121426635 GRCh38: Chr12:120988832	HNF1A		Monogenic diabetes	Pathogenic (Apr 18, 2022)	reviewed by expert panel FDA Recognized Database
Select item 1494263.	NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) GRCh37: Chr12:121426644 GRCh38: Chr12:120988841	HNF1A	P112L	Monogenic diabetes	Pathogenic (Apr 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 152602164.	NM_000545.8(HNF1A):c.338G>A (p.Trp113Ter) GRCh37: Chr12:121426647 GRCh38: Chr12:120988844	HNF1A	W113*	Maturity onset diabetes mellitus in young	Pathogenic	criteria provided, single submitter
Select item 134295365.	NM_000545.8(HNF1A):c.342dup (p.Val115fs) GRCh37: Chr12:121426650-121426651 GRCh38: Chr12:120988847-120988848	HNF1A	V115fs	Monogenic diabetes	Likely pathogenic (Feb 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 170067166.	NM_000545.8(HNF1A):c.347C>T (p.Ala116Val) GRCh37: Chr12:121426656 GRCh38: Chr12:120988853	HNF1A	A116V	Maturity-onset diabetes of the young type 3	Pathogenic (Aug 2, 2022)	criteria provided, single submitter
Select item 1493067.	NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) GRCh37: Chr12:121426674 GRCh38: Chr12:120988871	HNF1A	Y122C	Monogenic diabetes	Likely pathogenic (Aug 19, 2021)	reviewed by expert panel FDA Recognized Database
Select item 136534968.	NM_000545.8(HNF1A):c.366C>A (p.Tyr122Ter) GRCh37: Chr12:121426675 GRCh38: Chr12:120988872	HNF1A	Y122*	not provided	Pathogenic (Nov 4, 2020)	criteria provided, single submitter
Select item 3682069.	NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) GRCh37: Chr12:121426677-121426678 GRCh38: Chr12:120988874-120988875	HNF1A		Monogenic diabetes	Likely pathogenic (Apr 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 58679170.	NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter) GRCh37: Chr12:121426679 GRCh38: Chr12:120988876	HNF1A	Q124*	Maturity onset diabetes mellitus in young, not provided	Pathogenic (May 4, 2018)	criteria provided, multiple submitters, no conflicts
Select item 214907271.	NM_000545.8(HNF1A):c.377A>G (p.His126Arg) GRCh37: Chr12:121426686 GRCh38: Chr12:120988883	HNF1A	H126R	not provided	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 169321872.	NM_000545.8(HNF1A):c.377ACA[1] (p.Asn127del) GRCh37: Chr12:121426686-121426688 GRCh38: Chr12:120988883-120988885	HNF1A	N127del	Monogenic diabetes	Likely pathogenic (Jun 15, 2022)	reviewed by expert panel FDA Recognized Database
Select item 99454873.	NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter) GRCh37: Chr12:121426697 GRCh38: Chr12:120988894	HNF1A	Q130*	Maturity onset diabetes mellitus in young, not provided	Pathogenic (Sep 17, 2019)	criteria provided, multiple submitters, no conflicts
Select item 1494374.	NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) GRCh37: Chr12:121426700 GRCh38: Chr12:120988897	HNF1A	R131W	Monogenic diabetes	Pathogenic (Aug 18, 2021)	reviewed by expert panel FDA Recognized Database
Select item 56237375.	NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln) GRCh37: Chr12:121426701 GRCh38: Chr12:120988898	HNF1A	R131Q	Monogenic diabetes	Pathogenic (Aug 11, 2021)	reviewed by expert panel FDA Recognized Database
Select item 44748876.	NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu) GRCh37: Chr12:121426701 GRCh38: Chr12:120988898	HNF1A	R131L	Monogenic diabetes	Likely pathogenic (Aug 18, 2021)	reviewed by expert panel FDA Recognized Database
Select item 147907877.	NM_000545.8(HNF1A):c.397G>A (p.Val133Met) GRCh37: Chr12:121426706 GRCh38: Chr12:120988903	HNF1A	V133M	Monogenic diabetes	Likely pathogenic (Jun 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 169322078.	NM_000545.8(HNF1A):c.399_405del (p.Val134fs) GRCh37: Chr12:121426707-121426713 GRCh38: Chr12:120988904-120988910	HNF1A	V134fs	Monogenic diabetes	Likely pathogenic (Jun 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 170000179.	NM_000545.8(HNF1A):c.404del (p.Asp135fs) GRCh37: Chr12:121426713 GRCh38: Chr12:120988910	HNF1A	D135fs	Monogenic diabetes	Pathogenic (Jul 1, 2022)	reviewed by expert panel FDA Recognized Database
Select item 91806180.	NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala) GRCh37: Chr12:121426713 GRCh38: Chr12:120988910	HNF1A	D135A	Maturity onset diabetes mellitus in young	Likely pathogenic	criteria provided, single submitter
Select item 194040781.	NM_000545.8(HNF1A):c.416T>C (p.Leu139Pro) GRCh37: Chr12:121426725 GRCh38: Chr12:120988922	HNF1A	L139P	not provided	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 132762082.	NM_000545.8(HNF1A):c.425C>T (p.Ser142Phe) GRCh37: Chr12:121426734 GRCh38: Chr12:120988931	HNF1A	S142F	Monogenic diabetes	Pathogenic (Aug 24, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132760783.	NM_000545.8(HNF1A):c.427del (p.His143fs) GRCh37: Chr12:121426734 GRCh38: Chr12:120988931	HNF1A	H143fs	Monogenic diabetes	Likely pathogenic (Oct 29, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132760684.	NM_000545.8(HNF1A):c.427C>T (p.His143Tyr) GRCh37: Chr12:121426736 GRCh38: Chr12:120988933	HNF1A	H143Y	Monogenic diabetes	Pathogenic (Aug 24, 2021)	reviewed by expert panel FDA Recognized Database
Select item 132760485.	NM_000545.8(HNF1A):c.429C>G (p.His143Gln) GRCh37: Chr12:121426738 GRCh38: Chr12:120988935	HNF1A	H143Q	Monogenic diabetes	Likely pathogenic (Nov 3, 2021)	reviewed by expert panel FDA Recognized Database
Select item 133851086.	NM_000545.8(HNF1A):c.431T>G (p.Leu144Arg) GRCh37: Chr12:121426740 GRCh38: Chr12:120988937	HNF1A	L144R	not provided	Likely pathogenic (Apr 24, 2019)	criteria provided, single submitter
Select item 44748987.	NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe) GRCh37: Chr12:121426743 GRCh38: Chr12:120988940	HNF1A	S145F	Monogenic diabetes	Pathogenic (Apr 8, 2022)	reviewed by expert panel FDA Recognized Database
Select item 202227488.	NM_000545.8(HNF1A):c.452del (p.Gly151fs) GRCh37: Chr12:121426759 GRCh38: Chr12:120988956	HNF1A	G151fs	not provided	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 169298989.	NM_000545.8(HNF1A):c.467C>A (p.Thr156Lys) GRCh37: Chr12:121426776 GRCh38: Chr12:120988973	HNF1A	T156K	Maturity-onset diabetes of the young type 3	Likely pathogenic (May 1, 2021)	criteria provided, single submitter
Select item 133845690.	NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter) GRCh37: Chr12:121426781 GRCh38: Chr12:120988978	HNF1A	K158*	not provided	Pathogenic (Oct 26, 2018)	criteria provided, single submitter
Select item 167670491.	NM_000545.8(HNF1A):c.475C>G (p.Arg159Gly) GRCh37: Chr12:121426784 GRCh38: Chr12:120988981	HNF1A	R159G	Monogenic diabetes	Likely pathogenic (Apr 9, 2022)	reviewed by expert panel FDA Recognized Database
Select item 42975092.	NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp) GRCh37: Chr12:121426784 GRCh38: Chr12:120988981	HNF1A	R159W	Monogenic diabetes	Pathogenic (Dec 22, 2021)	reviewed by expert panel FDA Recognized Database
Select item 174309593.	NM_000545.8(HNF1A):c.478del (p.Ala160fs) GRCh37: Chr12:121426785 GRCh38: Chr12:120988982	HNF1A	A160fs	Maturity onset diabetes mellitus in young	Pathogenic (Feb 4, 2021)	criteria provided, single submitter
Select item 58679294.	NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln) GRCh37: Chr12:121426785 GRCh38: Chr12:120988982	HNF1A	R159Q	Monogenic diabetes	Pathogenic (Dec 30, 2021)	reviewed by expert panel FDA Recognized Database
Select item 44749195.	NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter) GRCh37: Chr12:121426803 GRCh38: Chr12:120989000	HNF1A	W165*	Monogenic diabetes	Pathogenic (Jun 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 138405896.	NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) GRCh37: Chr12:121426820 GRCh38: Chr12:120989017	HNF1A	R171G	not provided, Maturity onset diabetes mellitus in young	Pathogenic (Oct 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37796597.	NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter) GRCh37: Chr12:121426820 GRCh38: Chr12:120989017	HNF1A	R171*	Monogenic diabetes	Pathogenic (Apr 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 3682398.	NM_000545.8(HNF1A):c.518_526+37del GRCh37: Chr12:121426823-121426868 GRCh38: Chr12:120989020-120989065	HNF1A		Monogenic diabetes	Likely pathogenic (Apr 20, 2022)	reviewed by expert panel FDA Recognized Database
Select item 37238099.	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) GRCh37: Chr12:121426835 GRCh38: Chr12:120989032	HNF1A	Q176*	Monogenic diabetes	Pathogenic (Apr 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 1746441100.	NM_000545.8(HNF1A):c.526+1G>T GRCh37: Chr12:121426836 GRCh38: Chr12:120989033	HNF1A		Maturity onset diabetes mellitus in young	Pathogenic (Jun 18, 2018)	criteria provided, single submitter

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