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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Diabetes Mellitus, Type 2 (D003924)
..Starting node ..Maturity-Onset Diabetes of the Young, Type 3 (C563933)
Child Nodes:
Sister Nodes:
..Diabetes Mellitus, Lipoatrophic (D003923) 1
..Diabetes Mellitus, Noninsulin-Dependent, 1 (C563359)
..Diabetes Mellitus, Noninsulin-Dependent, 2 (C563323)
..Diabetes Mellitus, Noninsulin-Dependent, 3 (C566342)
..Diabetes Mellitus, Noninsulin-Dependent, Type 4 (C564299)
..Diabetes Mellitus, Type II, Autosomal Dominant (C562773)
..Mason-Type Diabetes (C562772)
..Maturity-Onset Diabetes of the Young, Type 1 (C565101)
..Maturity-Onset Diabetes of the Young, Type 2 (C564219)
..Maturity-Onset Diabetes of the Young, Type 3 (C563933)
..Maturity-Onset Diabetes of the Young, Type 4 (C563451)
..Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (C565225)
..Maturity-Onset Diabetes Of The Young, Type 9 (C567393)
..MODY, Type 6 (C565231)
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Renal cysts and diabetes syndrome (C535520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6836

Name:

Maturity-Onset Diabetes of the Young, Type 3

Definition:

Alternative IDs:

OMIM:600496

ParentIDs:

MESH:D003924

TreeNumbers:

C18.452.394.750.149/C563933 |C19.246.300/C563933

Synonyms:

MODY3 |MODY, Type 3

Slim Mappings:

Endocrine system disease|Metabolic disease

Reference:

MedGen: C563933
MeSH: C563933
OMIM: 600496;

Genes: HNF1A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0004904	Maturity-onset diabetes of the young
4	HP:0003074	Hyperglycemia
5	HP:0005978	Type II diabetes mellitus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000545.6(HNF1A):c.1A>G (p.Met1Val)	6927	HNF1A	Likely pathogenic	193922592	RCV000030495;	N	MedGen:C1838100,OMIM:600496	12	121416572	121416572	NM_000545.6:c.1A>G	NP_000536.5:p.Met1Val	NC_000012.11:g.121416572A>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp)	6927	HNF1A	Pathogenic	137853247	RCV000016088; RCV000016086; RCV000016087;	N	MedGen:C0279702,SNOMED CT:188251003,SNOMED CT:254915003; MedGen:C1266042,ORPHA:319303; MedGen:C1838100,OMIM:600496	12	121416663	121416663	NM_000545.6:c.92G>A	NP_000536.5:p.Gly31Asp	NC_000012.11:g.121416663G>A	OMIM Allelic Variant:142410.0022	C1266042 Chromophobe renal cell carcinoma; C0279702 Clear cell carcinoma of kidney; C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.130delC (p.Leu44Trpfs)	6927	HNF1A	Pathogenic	193922578	RCV000030478;	N	MedGen:C1838100,OMIM:600496	12	121416701	121416701	NM_000545.6:c.130delC	NP_000536.5:p.Leu44Trpfs	NC_000012.11:g.121416701delC	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.150C>T (p.Cys50=)	6927	HNF1A	Likely benign	193922583	RCV000030484;	N	MedGen:C1838100,OMIM:600496	12	121416721	121416721	NM_000545.6:c.150C>T	NP_000536.5:p.Cys50=	NC_000012.11:g.121416721C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.169delC (p.Leu57Trpfs)	6927	HNF1A	Likely pathogenic	193922588	RCV000030489;	N	MedGen:C1838100,OMIM:600496	12	121416740	121416740	NM_000545.6:c.169delC	NP_000536.5:p.Leu57Trpfs	NC_000012.11:g.121416740delC	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.252C>T (p.Pro84=)	6927	HNF1A	not provided	78772552	RCV000030496; RCV000121189;	N	MedGen:C1838100,OMIM:600496; MedGen:CN169374	12	121416823	121416823	NM_000545.6:c.252C>T	NP_000536.5:p.Pro84=	NC_000012.11:g.121416823C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3; CN169374 not specified
NM_000545.6(HNF1A):c.281C>T (p.Pro94Leu)	6927	HNF1A	Likely pathogenic	193922593	RCV000030497;	N	MedGen:C1838100,OMIM:600496	12	121416852	121416852	NM_000545.6:c.281C>T	NP_000536.5:p.Pro94Leu	NC_000012.11:g.121416852C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.313dupG (p.Glu105Glyfs)	6927	HNF1A	Likely pathogenic	193922594	RCV000030498;	N	MedGen:C1838100,OMIM:600496	12	121416884	121416884	NM_000545.6:c.313dupG	NP_000536.5:p.Glu105Glyfs	NC_000012.11:g.121416884dupG	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.326+4A>G	6927	HNF1A	Uncertain significance	193922595	RCV000030500;	N	MedGen:C1838100,OMIM:600496	12	121416901	121416901	NM_000545.6:c.326+4A>G		NC_000012.11:g.121416901A>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.326+20C>A	6927	HNF1A	Benign	80051981	RCV000030499;	N	MedGen:C1838100,OMIM:600496	12	121416917	121416917	NM_000545.6:c.326+20C>A		NC_000012.11:g.121416917C>A	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.335C>T (p.Pro112Leu)	6927	HNF1A	Pathogenic	137853243	RCV000016080;	N	MedGen:C1838100,OMIM:600496	12	121426644	121426644	NM_000545.6:c.335C>T	NP_000536.5:p.Pro112Leu	NC_000012.11:g.121426644C>T	OMIM Allelic Variant:142410.0015	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.365A>G (p.Tyr122Cys)	6927	HNF1A	Pathogenic	137853237	RCV000016067;	N	MedGen:C1838100,OMIM:600496	12	121426674	121426674	NM_000545.6:c.365A>G	NP_000536.5:p.Tyr122Cys	NC_000012.11:g.121426674A>G	OMIM Allelic Variant:142410.0004	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.375_377dupGCA (p.Gln125_His126insGln)	6927	HNF1A	Likely pathogenic	193922596	RCV000030501;	N	MedGen:C1838100,OMIM:600496	12	121426684	121426686	NM_000545.6:c.375_377dupGCA	NP_000536.5:p.Gln125_His126insGln	NC_000012.11:g.121426684_121426686dupGCA	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.391C>T (p.Arg131Trp)	6927	HNF1A	Pathogenic	137853244	RCV000016081;	N	MedGen:C1838100,OMIM:600496	12	121426700	121426700	NM_000545.6:c.391C>T	NP_000536.5:p.Arg131Trp	NC_000012.11:g.121426700C>T	OMIM Allelic Variant:142410.0016	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.441C>A (p.His147Gln)	6927	HNF1A	Likely pathogenic	193922597	RCV000030502;	N	MedGen:C1838100,OMIM:600496	12	121426750	121426750	NM_000545.6:c.441C>A	NP_000536.5:p.His147Gln	NC_000012.11:g.121426750C>A	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.467C>T (p.Thr156Met)	6927	HNF1A	Likely pathogenic	150513055	RCV000030503;	N	MedGen:C1838100,OMIM:600496	12	121426776	121426776	NM_000545.6:c.467C>T	NP_000536.5:p.Thr156Met	NC_000012.11:g.121426776C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.518_526+37del46	6927	HNF1A	Likely pathogenic	386134267	RCV000030504;	N	MedGen:C1838100,OMIM:600496	12	121426827	121426872	NM_000545.6:c.518_526+37del46		NC_000012.11:g.121426827_121426872del46	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	6927	HNF1A	Likely pathogenic	193922598	RCV000030505;	N	MedGen:C1838100,OMIM:600496	12	121431394	121431394	NM_000545.6:c.598C>T	NP_000536.5:p.Arg200Trp	NC_000012.11:g.121431394C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.666_668delGAA (p.Lys222del)	6927	HNF1A	Likely pathogenic	193922599	RCV000030506;	N	MedGen:C1838100,OMIM:600496	12	121431462	121431464	NM_000545.6:c.666_668delGAA	NP_000536.5:p.Lys222del	NC_000012.11:g.121431462_121431464delGAA	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.670C>T (p.Pro224Ser)	6927	HNF1A	Likely pathogenic	193922600	RCV000030507;	N	MedGen:C1838100,OMIM:600496	12	121431466	121431466	NM_000545.6:c.670C>T	NP_000536.5:p.Pro224Ser	NC_000012.11:g.121431466C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.713+14C>T	6927	HNF1A	Uncertain significance	193922601	RCV000030508;	N	MedGen:C1838100,OMIM:600496	12	121431523	121431523	NM_000545.6:c.713+14C>T		NC_000012.11:g.121431523C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.731G>T (p.Arg244Ile)	6927	HNF1A	Likely pathogenic	193922602	RCV000030509;	N	MedGen:C1838100,OMIM:600496	12	121431984	121431984	NM_000545.6:c.731G>T	NP_000536.5:p.Arg244Ile	NC_000012.11:g.121431984G>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.734G>T (p.Gly245Val)	6927	HNF1A	Likely pathogenic	193922603	RCV000030510;	N	MedGen:C1838100,OMIM:600496	12	121431987	121431987	NM_000545.6:c.734G>T	NP_000536.5:p.Gly245Val	NC_000012.11:g.121431987G>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.790G>T (p.Val264Phe)	6927	HNF1A	Likely pathogenic	193922604	RCV000030511;	N	MedGen:C1838100,OMIM:600496	12	121432043	121432043	NM_000545.6:c.790G>T	NP_000536.5:p.Val264Phe	NC_000012.11:g.121432043G>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.803T>C (p.Phe268Ser)	6927	HNF1A	Likely pathogenic	193922605	RCV000030512;	N	MedGen:C1838100,OMIM:600496	12	121432056	121432056	NM_000545.6:c.803T>C	NP_000536.5:p.Phe268Ser	NC_000012.11:g.121432056T>C	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.827C>A (p.Ala276Asp)	6927	HNF1A	Pathogenic	137853245	RCV000016083;	N	MedGen:C1838100,OMIM:600496	12	121432080	121432080	NM_000545.6:c.827C>A	NP_000536.5:p.Ala276Asp	NC_000012.11:g.121432080C>A,NC_000012.11:g.121432080C>G	OMIM Allelic Variant:142410.0019	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.827C>G (p.Ala276Gly)	6927	HNF1A	Likely pathogenic	137853245	RCV000030513;	N	MedGen:C1838100,OMIM:600496	12	121432080	121432080	NM_000545.6:c.827C>G	NP_000536.5:p.Ala276Gly	NC_000012.11:g.121432080C>A,NC_000012.11:g.121432080C>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.872dupC (p.Gly292Argfs)	6927	HNF1A	Pathogenic	587776825	RCV000016062; RCV000016064; RCV000022617; RCV000117225; RCV000016063;	N	MedGen:C0011854,OMIM:222100,SNOMED CT:46635009; MedGen:C0279702,SNOMED CT:188251003,SNOMED CT:254915003; MedGen:C1838100,OMIM:600496; MedGen:C1840646,OMIM:142330; MedGen:C2675866,OMIM:612520	12	121432125	121432125	NM_000545.6:c.872dupC	NP_000536.5:p.Gly292Argfs		OMIM Allelic Variant:142410.0001	C0279702 Clear cell carcinoma of kidney; C0011854 222100 Diabetes mellitus type 1; C2675866 612520 Diabetes mellitus, insulin-dependent, 20; C1840646 142330 Hepatic adenomas, familial; C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.872C>G (p.Pro291Arg)	6927	HNF1A	Likely pathogenic	193922606	RCV000030514;	N	MedGen:C1838100,OMIM:600496	12	121432125	121432125	NM_000545.6:c.872C>G	NP_000536.5:p.Pro291Arg	NC_000012.11:g.121432125C>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.954C>T (p.His318=)	6927	HNF1A	Uncertain significance	193922607	RCV000030515;	N	MedGen:C1838100,OMIM:600496	12	121432207	121432207	NM_000545.6:c.954C>T	NP_000536.5:p.His318=	NC_000012.11:g.121432207C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys)	6927	HNF1A	not provided	140491072	RCV000030516; RCV000121196;	N	MedGen:C1838100,OMIM:600496; MedGen:CN169374	12	121434074	121434074	NM_000545.6:c.965A>G	NP_000536.5:p.Tyr322Cys	NC_000012.11:g.121434074A>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3; CN169374 not specified
NM_000545.6(HNF1A):c.1107+9C>G	6927	HNF1A	Likely benign	17847497	RCV000030475;	N	MedGen:C1838100,OMIM:600496	12	121434225	121434225	NM_000545.6:c.1107+9C>G		NC_000012.11:g.121434225C>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1129delC (p.Leu377Serfs)	6927	HNF1A	Likely pathogenic	193922576	RCV000030476;	N	MedGen:C1838100,OMIM:600496	12	121434365	121434365	NM_000545.6:c.1129delC	NP_000536.5:p.Leu377Serfs	NC_000012.11:g.121434365delC	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1265T>C (p.Leu422Pro)	6927	HNF1A	Likely pathogenic	193922577	RCV000030477;	N	MedGen:C1838100,OMIM:600496	12	121434501	121434501	NM_000545.6:c.1265T>C	NP_000536.5:p.Leu422Pro	NC_000012.11:g.121434501T>C	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1310-12C>T	6927	HNF1A	Uncertain significance	193922579	RCV000030479;	N	MedGen:C1838100,OMIM:600496	12	121435265	121435265	NM_000545.6:c.1310-12C>T		NC_000012.11:g.121435265C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1323G>A (p.Thr441=)	6927	HNF1A	Likely benign	138996307	RCV000030480;	N	MedGen:C1838100,OMIM:600496	12	121435290	121435290	NM_000545.6:c.1323G>A	NP_000536.5:p.Thr441=	NC_000012.11:g.121435290G>A	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)	6927	HNF1A	Pathogenic	137853236	RCV000016065;	N	MedGen:C1838100,OMIM:600496	12	121435307	121435307	NM_000545.6:c.1340C>T	NP_000536.5:p.Pro447Leu	NC_000012.11:g.121435307C>T	OMIM Allelic Variant:142410.0002	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu)	6927	HNF1A	Likely pathogenic	193922580	RCV000030481;	N	MedGen:C1838100,OMIM:600496	12	121435391	121435391	NM_000545.6:c.1424C>T	NP_000536.5:p.Pro475Leu	NC_000012.11:g.121435391C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1502-7C>T	6927	HNF1A	Uncertain significance	193922581	RCV000030482;	N	MedGen:C1838100,OMIM:600496	12	121437064	121437064	NM_000545.6:c.1502-7C>T		NC_000012.11:g.121437064C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1506_1507dupCT (p.Tyr503Serfs)	6927	HNF1A	Likely pathogenic	193922582	RCV000030483;	N	MedGen:C1838100,OMIM:600496	12	121437075	121437076	NM_000545.6:c.1506_1507dupCT	NP_000536.5:p.Tyr503Serfs	NC_000012.11:g.121437075_121437076dupCT	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1539C>T (p.Thr513=)	6927	HNF1A	Likely benign	193922584	RCV000030485;	N	MedGen:C1838100,OMIM:600496	12	121437108	121437108	NM_000545.6:c.1539C>T	NP_000536.5:p.Thr513=	NC_000012.11:g.121437108C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1592G>C (p.Ser531Thr)	6927	HNF1A	Pathogenic	137853246	RCV000016085;	N	MedGen:C1838100,OMIM:600496	12	121437161	121437161	NM_000545.6:c.1592G>C	NP_000536.5:p.Ser531Thr	NC_000012.11:g.121437161G>C	OMIM Allelic Variant:142410.0021	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1624-19G>A	6927	HNF1A	Uncertain significance	193922586	RCV000030487;	N	MedGen:C1838100,OMIM:600496	12	121437267	121437267	NM_000545.6:c.1624-19G>A		NC_000012.11:g.121437267G>A	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1624-15G>A	6927	HNF1A	Uncertain significance	193922585	RCV000030486;	N	MedGen:C1838100,OMIM:600496	12	121437271	121437271	NM_000545.6:c.1624-15G>A		NC_000012.11:g.121437271G>A	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe)	6927	HNF1A	Likely pathogenic	193922587	RCV000030488;	N	MedGen:C1838100,OMIM:600496	12	121437325	121437325	NM_000545.6:c.1663C>T	NP_000536.5:p.Leu555Phe	NC_000012.11:g.121437325C>T	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1720G>A (p.Gly574Ser)	6927	HNF1A	Pathogenic	1169305	RCV000016077;	N	MedGen:C1838100,OMIM:600496	12	121437382	121437382	NM_000545.6:c.1720G>A	NP_000536.5:p.Gly574Ser	NC_000012.11:g.121437382Ax3d,NC_000012.11:g.121437382A>G	OMIM Allelic Variant:142410.0013	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1720G= (p.Gly574=)	6927	HNF1A	not provided	1169305	RCV000030490; RCV000121200;	N	MedGen:C1838100,OMIM:600496; MedGen:CN169374	12	121437382	121437382	NM_000545.6:c.1720G=	NP_000536.5:p.Gly574=	NC_000012.11:g.121437382Ax3d,NC_000012.11:g.121437382A>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3; CN169374 not specified
NM_000545.6(HNF1A):c.1745A>G (p.His582Arg)	6927	HNF1A	Likely pathogenic	193922589	RCV000030491;	N	MedGen:C1838100,OMIM:600496	12	121437407	121437407	NM_000545.6:c.1745A>G	NP_000536.5:p.His582Arg	NC_000012.11:g.121437407A>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1747C>G (p.Arg583Gly)	6927	HNF1A	Pathogenic	137853239	RCV000030492; RCV000016069;	N	MedGen:C1838100,OMIM:600496; MedGen:C2675866,OMIM:612520	12	121437409	121437409	NM_000545.6:c.1747C>G	NP_000536.5:p.Arg583Gly	NC_000012.11:g.121437409C>G	OMIM Allelic Variant:142410.0006	C2675866 612520 Diabetes mellitus, insulin-dependent, 20; C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1748G>A (p.Arg583Gln)	6927	HNF1A	Pathogenic	137853242	RCV000016078;	N	MedGen:C1838100,OMIM:600496	12	121437410	121437410	NM_000545.6:c.1748G>A	NP_000536.5:p.Arg583Gln	NC_000012.11:g.121437410G>A	OMIM Allelic Variant:142410.0014	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1768+64dupC	6927	HNF1A	Uncertain significance	193922590	RCV000030493;	N	MedGen:C1838100,OMIM:600496	12	121437494	121437494	NM_000545.6:c.1768+64dupC		NC_000012.11:g.121437494dupC	-	C1838100 600496 Maturity-onset diabetes of the young, type 3
NM_000545.6(HNF1A):c.1854C>G (p.Ile618Met)	6927	HNF1A	not provided	193922591	RCV000030494; RCV000121192;	N	MedGen:C1838100,OMIM:600496; MedGen:CN169374	12	121438953	121438953	NM_000545.6:c.1854C>G	NP_000536.5:p.Ile618Met	NC_000012.11:g.121438953C>G	-	C1838100 600496 Maturity-onset diabetes of the young, type 3; CN169374 not specified
NM_000545.6(HNF1A):c.1859C>T (p.Thr620Ile)	6927	HNF1A	Pathogenic	137853241	RCV000016072;	N	MedGen:C1838100,OMIM:600496	12	121438958	121438958	NM_000545.6:c.1859C>T	NP_000536.5:p.Thr620Ile	NC_000012.11:g.121438958C>T	OMIM Allelic Variant:142410.0009	C1838100 600496 Maturity-onset diabetes of the young, type 3