ClinVar for Gene (Select 3172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075823	NM_175914.5(HNF4A):c.1063+120G>A	HNF4A (A392T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 3068534	NM_175914.5(HNF4A):c.194G>A (p.Ser65Asn)	HNF4A (S62N +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3068533	NM_175914.5(HNF4A):c.124G>A (p.Gly42Arg)	HNF4A (G39R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 3068532	NM_175914.5(HNF4A):c.421del (p.Arg141fs)	HNF4A (R138fs +3 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3068531	NM_175914.5(HNF4A):c.331G>T (p.Glu111Ter)	HNF4A (E108* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3068530	NM_175914.5(HNF4A):c.320C>A (p.Ala107Asp)	HNF4A (A104D +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3068529	NM_175914.5(HNF4A):c.309G>A (p.Met103Ile)	HNF4A (M100I +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 3068528	NM_175914.5(HNF4A):c.297C>G (p.Phe99Leu)	HNF4A (F114L +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3068527	NM_175914.5(HNF4A):c.278G>C (p.Cys93Ser)	HNF4A (C108S +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3067444	NM_175914.5(HNF4A):c.1063+24C>T	HNF4A (R360W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3064750	NM_175914.5(HNF4A):c.460A>T (p.Ile154Phe)	HNF4A (I151F +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GUncertain significance
Select item 3063964	NM_175914.5(HNF4A):c.881A>G (p.Gln294Arg)	HNF4A (Q291R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062280	NM_175914.5(HNF4A):c.49+1G>T	HNF4A	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 3055187	NM_175914.5(HNF4A):c.50-4562G>A	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related condition	GLikely benign
Select item 3052590	NM_175914.5(HNF4A):c.50-4754C>G	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	HNF4A-related condition	GLikely benign
Select item 3050992	NM_175914.5(HNF4A):c.50-4758A>G	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	HNF4A-related condition	GLikely benign
Select item 3048958	NM_175914.5(HNF4A):c.827-6T>C	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related condition	GLikely benign
Select item 3039013	NM_175914.5(HNF4A):c.50-4563G>A	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related condition	GLikely benign
Select item 3037043	NM_175914.5(HNF4A):c.50-3406A>G	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related condition	GLikely benign
Select item 3035119	NM_175914.5(HNF4A):c.50-4747C>G	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	HNF4A-related condition	GLikely benign
Select item 3034594	NM_175914.5(HNF4A):c.50-4G>A	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related condition	GLikely benign
Select item 3031652	NM_175914.5(HNF4A):c.952C>T (p.Leu318=)	HNF4A	Single nucleotide variant (synonymous variant)	HNF4A-related condition	GLikely benign
Select item 3030196	NM_175914.5(HNF4A):c.138G>T (p.Thr46=)	HNF4A	Single nucleotide variant (synonymous variant)	HNF4A-related condition	GLikely benign
Select item 3017314	NM_175914.5(HNF4A):c.561C>T (p.Cys187=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998498	NM_175914.5(HNF4A):c.582+9G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995046	NM_175914.5(HNF4A):c.1063+5G>A	HNF4A	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2983066	NM_175914.5(HNF4A):c.474G>A (p.Lys158=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975920	NM_175914.5(HNF4A):c.56C>G (p.Ser19Cys)	HNF4A (S19C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972922	NM_175914.5(HNF4A):c.787G>A (p.Glu263Lys)	HNF4A (E278K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959489	NM_175914.5(HNF4A):c.1205G>A (p.Arg402Lys)	HNF4A (R417K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920813	NM_175914.5(HNF4A):c.609C>T (p.Gly203=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906539	NM_175914.5(HNF4A):c.156C>T (p.Ala52=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888569	NM_175914.5(HNF4A):c.168C>T (p.Asp56=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883412	NM_175914.5(HNF4A):c.12G>C (p.Val4=)	HNF4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881631	NM_175914.5(HNF4A):c.672C>A (p.Gly224=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860805	NM_175914.5(HNF4A):c.1167C>T (p.His389=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857912	NM_175914.5(HNF4A):c.50-4746G>A	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	HNF4A-related condition +1 more	GBenign/Likely benign
Select item 2851752	NM_175914.5(HNF4A):c.1163C>T (p.Thr388Ile)	HNF4A (T410I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844610	NM_175914.5(HNF4A):c.405G>A (p.Gln135=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838411	NM_175914.5(HNF4A):c.293G>A (p.Cys98Tyr)	HNF4A (C98Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820700	NM_175914.5(HNF4A):c.689C>T (p.Pro230Leu)	HNF4A (P230L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809249	NM_175914.5(HNF4A):c.395C>A (p.Ala132Glu)	HNF4A (A132E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798402	NM_175914.5(HNF4A):c.538G>A (p.Ala180Thr)	HNF4A (A177T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793993	NM_175914.5(HNF4A):c.991G>A (p.Glu331Lys)	HNF4A (E331K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792913	NM_175914.5(HNF4A):c.228T>C (p.Phe76=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775416	NM_175914.5(HNF4A):c.426G>C (p.Gln142His)	HNF4A (Q164H +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2775412	NM_175914.5(HNF4A):c.241G>T (p.Val81Leu)	HNF4A (V103L +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2762116	NM_175914.5(HNF4A):c.868C>G (p.Arg290Gly)	HNF4A (R290G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736967	NM_175914.5(HNF4A):c.199C>T (p.Arg67Trp)	HNF4A (R64W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2724989	NM_175914.5(HNF4A):c.333G>A (p.Glu111=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724077	NM_175914.5(HNF4A):c.632C>T (p.Thr211Ile)	HNF4A (T211I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716683	NM_175914.5(HNF4A):c.917A>G (p.Tyr306Cys)	HNF4A (Y303C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710007	NM_175914.5(HNF4A):c.1210C>T (p.Gln404Ter)	HNF4A (Q404* +3 more)	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 2707927	NM_175914.5(HNF4A):c.857T>G (p.Ile286Ser)	HNF4A (I286S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691837	Single allele	HNF4A	Single nucleotide variant	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2691836	NM_175914.5(HNF4A):c.938G>T (p.Gly313Val)	HNF4A (G310V +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2691720	NM_175914.5(HNF4A):c.677A>T (p.Asp226Val)	HNF4A (D223V +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +1 more	GUncertain significance
Select item 2690995	NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)	HNF4A (S62I +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2684229	NM_175914.5(HNF4A):c.1051A>G (p.Met351Val)	HNF4A (M348V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664356	NM_175914.5(HNF4A):c.535T>C (p.Trp179Arg)	HNF4A (W176R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2664355	NM_175914.5(HNF4A):c.536G>C (p.Trp179Ser)	HNF4A (W176S +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2662169	NM_175914.5(HNF4A):c.745G>A (p.Glu249Lys)	HNF4A (E246K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637790	NM_175914.5(HNF4A):c.319+5G>C	HNF4A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2633381	NM_175914.5(HNF4A):c.881_882delinsCC (p.Gln294Pro)	HNF4A (Q291P +3 more)	Indel (missense variant)	HNF4A-related condition	GUncertain significance
Select item 2631495	NM_175914.5(HNF4A):c.937G>A (p.Gly313Arg)	HNF4A (G310R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2630682	NM_175914.5(HNF4A):c.224+2T>G	HNF4A	Single nucleotide variant (splice donor variant)	HNF4A-related condition	GLikely pathogenic
Select item 2630609	NM_175914.5(HNF4A):c.911G>A (p.Arg304His)	HNF4A (R301H +3 more)	Single nucleotide variant (missense variant)	HNF4A-related condition	GUncertain significance
Select item 2584869	NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)	HNF4A (Q370R +3 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	GUncertain significance
Select item 2582776	NM_175914.5(HNF4A):c.622C>T (p.Leu208Phe)	HNF4A (L205F +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GUncertain significance
Select item 2581500	NM_175914.5(HNF4A):c.685_686insCCCTCGGCACTGCCCACATTG (p.Ile228_Val229insAlaLeuGlyThrAlaHisIle)	HNF4A	Insertion (inframe_insertion)	not specified	GUncertain significance
Select item 2581135	NM_175914.5(HNF4A):c.302C>A (p.Ala101Asp)	HNF4A (A101D +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2581134	NM_175914.5(HNF4A):c.734G>A (p.Arg245His)	HNF4A (R242H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2580875	NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)	HNF4A (G352R +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580874	NM_175914.5(HNF4A):c.426G>A (p.Gln142=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 2580873	NM_175914.5(HNF4A):c.225-3C>A	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2580600	NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)	HNF4A (D190Y +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2578346	NM_175914.5(HNF4A):c.225-21A>G	HNF4A	Single nucleotide variant (intron variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2578345	NM_175914.5(HNF4A):c.125G>T (p.Gly42Val)	HNF4A (G39V +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2578344	Single allele	HNF4A	Single nucleotide variant	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2578343	NM_175914.5(HNF4A):c.561C>G (p.Cys187Trp)	HNF4A (C184W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2578342	NM_175914.5(HNF4A):c.539C>A (p.Ala180Asp)	HNF4A (A177D +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2578341	NM_175914.5(HNF4A):c.490dup (p.Asp164fs)	HNF4A (D161fs +3 more)	Duplication (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2576160	NM_175914.5(HNF4A):c.263A>G (p.Asn88Ser)	HNF4A (N103S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574795	NM_175914.5(HNF4A):c.1035C>T (p.Asp345=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2574634	NM_175914.5(HNF4A):c.778G>A (p.Asp260Asn)	HNF4A (D257N +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 2574633	NM_175914.5(HNF4A):c.537G>C (p.Trp179Cys)	HNF4A (W176C +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 2574632	NM_175914.5(HNF4A):c.476T>C (p.Ile159Thr)	HNF4A (I156T +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 2574173	NM_175914.5(HNF4A):c.901A>T (p.Ile301Phe)	HNF4A (I298F +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2574172	NM_175914.5(HNF4A):c.876_877insT (p.Val293fs)	HNF4A (V290fs +3 more)	Insertion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2574171	NM_175914.5(HNF4A):c.731T>C (p.Ile244Thr)	HNF4A (I241T +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2574170	NM_175914.5(HNF4A):c.500A>C (p.Glu167Ala)	HNF4A (E164A +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2573962	NM_175914.5(HNF4A):c.725T>G (p.Val242Gly)	HNF4A (V239G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505495	NM_175914.5(HNF4A):c.337G>T (p.Asp113Tyr)	HNF4A (D110Y +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2505494	NM_175914.5(HNF4A):c.304G>A (p.Gly102Ser)	HNF4A (G102S +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2505493	NM_175914.5(HNF4A):c.209A>G (p.His70Arg)	HNF4A (H67R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2505492	NM_175914.5(HNF4A):c.1306A>T (p.Lys436Ter)	HNF4A (K423* +6 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2505491	NM_175914.5(HNF4A):c.427-2A>G	HNF4A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2504080	NM_175914.5(HNF4A):c.128A>G (p.Asp43Gly)	HNF4A (D40G +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GUncertain significance
Select item 2502290	NM_175914.5(HNF4A):c.278G>A (p.Cys93Tyr)	HNF4A (C108Y +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2502289	NM_175914.5(HNF4A):c.337G>C (p.Asp113His)	HNF4A (D110H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database

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