ClinVar for MedGen (Select 377589) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340454	NM_175914.5(HNF4A):c.270C>G (p.Cys90Trp)	HNF4A (C105W +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 3338390	NM_175914.5(HNF4A):c.359C>A (p.Ser120Ter)	HNF4A (S117* +3 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 3236043	NM_175914.5(HNF4A):c.282G>T (p.Arg94Ser)	HNF4A (R109S +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
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 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 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 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 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 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 2502186	NM_175914.5(HNF4A):c.50-4589G>A	HNF4A (V33M)	Single nucleotide variant (missense variant +2 more)	Maturity-onset diabetes of the young type 1 +1 more	GUncertain significance
Select item 1803834	NM_175914.5(HNF4A):c.643A>G (p.Met215Val)	HNF4A (M212V +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +1 more	GUncertain significance
Select item 1761584	NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)	HNF4A (S3R)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 1723210	NM_175914.5(HNF4A):c.407C>T (p.Ala136Val)	HNF4A (A133V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1710036	NM_175914.5(HNF4A):c.50-4682C>T	HNF4A (R2*)	Single nucleotide variant (nonsense +2 more)	Maturity-onset diabetes of the young type 1	GUncertain significance
Select item 1700682	NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)	HNF4A (K154Q +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 1700669	NM_175914.5(HNF4A):c.1086dup (p.Ala363fs)	HNF4A (A360fs +3 more)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1700662	NM_175914.5(HNF4A):c.1064-1G>T	HNF4A	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1700661	NM_175914.5(HNF4A):c.823C>T (p.Pro275Ser)	HNF4A (P272S +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 1700660	NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)	HNF4A (E260Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1700659	NM_175914.5(HNF4A):c.537G>A (p.Trp179Ter)	HNF4A (W176* +3 more)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1700658	NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr)	HNF4A (D342Y +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1698809	NM_175914.5(HNF4A):c.827-1G>A	HNF4A	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 1695883	NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)	HNF4A (L23I +3 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 1685879	NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg)	HNF4A (L314R +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1679313	NM_175914.5(HNF4A):c.1127T>G (p.Met376Arg)	HNF4A (M373R +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +1 more	GUncertain significance
Select item 1676239	NM_175914.5(HNF4A):c.610G>A (p.Glu204Lys)	HNF4A (E201K +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GUncertain significance
Select item 1675194	NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)	HNF4A (E235D +3 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +2 more	GUncertain significance
Select item 1457657	NM_175914.5(HNF4A):c.352C>T (p.Arg118Ter)	HNF4A (R118* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1442643	NM_175914.5(HNF4A):c.-79C>T	HNF4A	Single nucleotide variant (5 prime UTR variant)	Type 2 diabetes mellitus +3 more	GUncertain significance
Select item 1411449	NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)	HNF4A (R415Q +3 more)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 1399408	NM_175914.5(HNF4A):c.530T>C (p.Val177Ala)	HNF4A (V192A +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1350522	NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)	HNF4A (R100Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1338628	NM_175914.5(HNF4A):c.614A>C (p.His205Pro)	HNF4A (H202P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1338590	NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)	HNF4A (V379I +3 more)	Single nucleotide variant (missense variant)	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young +3 more	GUncertain significance
Select item 1338343	NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)	HNF4A (G146R +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1333652	NM_175914.5(HNF4A):c.179G>T (p.Gly60Val)	HNF4A (G57V +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 1324537	NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter)	HNF4A (R397* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1313336	NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg)	HNF4A (G206R +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1299755	NM_175914.5(HNF4A):c.-181G>C	HNF4A	Single nucleotide variant	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1299754	NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter)	HNF4A (Y16*)	Single nucleotide variant (nonsense +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1299753	NM_175914.5(HNF4A):c.48C>A (p.Tyr16Ter)	HNF4A (Y16*)	Single nucleotide variant (nonsense +1 more)	Maturity-onset diabetes of the young type 1	GPathogenic
Select item 1299752	NM_175914.5(HNF4A):c.1del (p.Met1fs)	HNF4A (M1fs)	Deletion (frameshift variant +2 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1299751	NM_175914.5(HNF4A):c.3G>A (p.Met1Ile)	HNF4A (M1I)	Single nucleotide variant (missense variant +2 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1299750	NM_175914.5(HNF4A):c.-181G>A	HNF4A	Single nucleotide variant	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1256560	NM_175914.5(HNF4A):c.468G>A (p.Ala156=)	HNF4A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1256559	NM_175914.5(HNF4A):c.1064-18G>A	HNF4A	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 1186689	NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)	HNF4A (R228W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1172869	NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)	HNF4A (A193D +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 995124	NM_175914.5(HNF4A):c.912C>A (p.Arg304=)	HNF4A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 994902	NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)	HNF4A (V105I +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 994901	NM_175914.5(HNF4A):c.196G>A (p.Val66Met)	HNF4A (V63M +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 987819	NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)	HNF4A (I421V +6 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 972810	NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)	HNF4A (R306L +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 972785	NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)	HNF4A (L194M +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 972784	NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)	HNF4A (R138Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 931741	NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)	HNF4A (R136Q +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +3 more	GUncertain significance/Uncertain risk allele
Select item 917409	NM_175914.5(HNF4A):c.724G>A (p.Val242Met)	HNF4A (V239M +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 899353	NM_175914.5(HNF4A):c.*35C>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 1 +2 more	GConflicting classifications of pathogenicity
Select item 899352	NM_175914.5(HNF4A):c.*7G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +1 more	GBenign
Select item 899288	NM_175914.5(HNF4A):c.582+12C>T	HNF4A	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 899287	NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)	HNF4A (E210K +3 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance/Uncertain risk allele
Select item 898527	NM_175914.5(HNF4A):c.*2511A>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898453	NM_175914.5(HNF4A):c.*1809C>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 1 +2 more	GConflicting classifications of pathogenicity
Select item 898305	NM_175914.5(HNF4A):c.*427G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 898237	NM_175914.5(HNF4A):c.1290C>T (p.Ala430=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +1 more	GUncertain significance
Select item 897432	NM_175914.5(HNF4A):c.*3052G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 897369	NM_175914.5(HNF4A):c.*2297C>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 897368	NM_175914.5(HNF4A):c.*2256C>G	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 897283	NM_175914.5(HNF4A):c.*1395C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 897282	NM_175914.5(HNF4A):c.*1364G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897281	NM_175914.5(HNF4A):c.*1363C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897280	NM_175914.5(HNF4A):c.*1293C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897218	NM_175914.5(HNF4A):c.*867G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 897217	NM_175914.5(HNF4A):c.*785G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 896939	NM_175914.5(HNF4A):c.*2786C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 896938	NM_175914.5(HNF4A):c.*2782A>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896868	NM_175914.5(HNF4A):c.*2006T>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GUncertain significance
Select item 896801	NM_175914.5(HNF4A):c.*1127T>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 896743	NM_175914.5(HNF4A):c.*764C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896689	NM_175914.5(HNF4A):c.*217C>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896688	NM_175914.5(HNF4A):c.*168G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 896610	NM_175914.5(HNF4A):c.1020C>G (p.Gly340=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +2 more	GConflicting classifications of pathogenicity
Select item 895537	NM_175914.5(HNF4A):c.*2761G>C	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +1 more	GUncertain significance
Select item 895536	NM_175914.5(HNF4A):c.*2656G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 895468	NM_175914.5(HNF4A):c.*1975G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 895467	NM_175914.5(HNF4A):c.*1826G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 895405	NM_175914.5(HNF4A):c.*1013G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 895404	NM_175914.5(HNF4A):c.*993G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 895326	NM_175914.5(HNF4A):c.*657G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 895325	NM_175914.5(HNF4A):c.*568G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +2 more	GBenign/Likely benign
Select item 895324	NM_175914.5(HNF4A):c.*547G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 895252	NM_175914.5(HNF4A):c.*76G>T	HNF4A	Single nucleotide variant (3 prime UTR variant)	Familial hyperinsulinism +1 more	GBenign/Likely benign
Select item 895197	NM_175914.5(HNF4A):c.723G>C (p.Arg241=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 895123	NM_175914.5(HNF4A):c.50-4630T>C	HNF4A (L19P)	Single nucleotide variant (missense variant +2 more)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance/Uncertain risk allele
Select item 804918	NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	HNF4A (R312H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804915	NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)	HNF4A (S142P +3 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GUncertain significance/Uncertain risk allele
Select item 749281	NM_175914.5(HNF4A):c.582+4A>G	HNF4A	Single nucleotide variant (intron variant)	Familial hyperinsulinism +4 more	GConflicting classifications of pathogenicity
Select item 745305	NM_175914.5(HNF4A):c.921C>T (p.Asp307=)	HNF4A	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young +4 more	GLikely benign

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