"Athena Diagnostics"[submitter] AND "HNF4A"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1807422	NM_175914.5(HNF4A):c.50-4705G>A	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 994898	NM_175914.5(HNF4A):c.50-4496C>T	HNF4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 129239	NM_175914.5(HNF4A):c.50-5C>T	HNF4A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1807419	NM_175914.5(HNF4A):c.50-1G>A	HNF4A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 586012	NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)	HNF4A (T15M +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +4 more	GUncertain significance
Select item 804912	NM_175914.5(HNF4A):c.68G>A (p.Gly23Asp)	HNF4A (G45D +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
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 994900	NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)	HNF4A (A25V +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36347	NM_175914.5(HNF4A):c.84G>A (p.Ala28=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 1 +4 more	GConflicting classifications of pathogenicity
Select item 586013	NM_175914.5(HNF4A):c.123C>T (p.Cys41=)	HNF4A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 129238	NM_175914.5(HNF4A):c.135C>T (p.Ala45=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 510279	NM_175914.5(HNF4A):c.138G>A (p.Thr46=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 156152	NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)	HNF4A (R60W +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 435436	NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)	HNF4A (R64Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804913	NM_175914.5(HNF4A):c.224+1G>A	HNF4A	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 338425	NM_175914.5(HNF4A):c.224+17dup	HNF4A	Duplication (intron variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 447515	NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)	HNF4A (R100W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36348	NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)	HNF4A (R91fs +3 more)	Indel (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1807420	NM_175914.5(HNF4A):c.292T>C (p.Cys98Arg)	HNF4A (C113R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804914	NM_175914.5(HNF4A):c.319+2T>C	HNF4A	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 262914	NM_175914.5(HNF4A):c.319+19C>T	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GBenign
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 995121	NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp)	HNF4A (R109W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 427034	NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)	HNF4A (R109Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 9212	NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)	HNF4A (R114W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic 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 586014	NM_175914.5(HNF4A):c.369G>A (p.Glu123=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign
Select item 995122	NM_175914.5(HNF4A):c.396G>A (p.Ala132=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 586015	NM_175914.5(HNF4A):c.408G>A (p.Ala136=)	HNF4A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 9211	NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter)	HNF4A (R141* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36352	NM_175914.5(HNF4A):c.426+6G>A	HNF4A	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 1 +3 more	GConflicting classifications of pathogenicity
Select item 447516	NM_175914.5(HNF4A):c.427-20C>T	HNF4A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 995123	NM_175914.5(HNF4A):c.427-16C>T	HNF4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 447517	NM_175914.5(HNF4A):c.427-4G>A	HNF4A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 586016	NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)	HNF4A (I140V +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36353	NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)	HNF4A (V147I +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 804916	NM_175914.5(HNF4A):c.457G>A (p.Asp153Asn)	HNF4A (D153N +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance/Uncertain risk allele
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 586017	NM_175914.5(HNF4A):c.576C>T (p.Asp192=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +4 more	GBenign/Likely benign
Select item 2580600	NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)	HNF4A (D190Y +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
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 586018	NM_175914.5(HNF4A):c.583-27G>A	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 447518	NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro)	HNF4A (L194P +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 586019	NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg)	HNF4A (L195R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36357	NM_175914.5(HNF4A):c.669A>G (p.Leu223=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GBenign/Likely benign
Select item 586020	NM_175914.5(HNF4A):c.670+5G>C	HNF4A	Single nucleotide variant (intron variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 447519	NM_175914.5(HNF4A):c.670+7C>T	HNF4A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 447520	NM_175914.5(HNF4A):c.692G>A (p.Arg231Gln)	HNF4A (R228Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447521	NM_175914.5(HNF4A):c.724del (p.Val242fs)	HNF4A (V239fs +3 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 804917	NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)	HNF4A (R245C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36359	NM_175914.5(HNF4A):c.744C>T (p.Asp248=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GBenign/Likely benign
Select item 447522	NM_175914.5(HNF4A):c.745G>T (p.Glu249Ter)	HNF4A (E246* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 9210	NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter)	HNF4A (Q255* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36360	NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)	HNF4A (E256D +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 586021	NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp)	HNF4A (E260D +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 447523	NM_175914.5(HNF4A):c.826+79C>T	HNF4A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 393444	NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)	HNF4A (D279N +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 447524	NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys)	HNF4A (R287C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 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 586022	NM_175914.5(HNF4A):c.925C>A (p.Arg309Ser)	HNF4A (R306S +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36364	NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	HNF4A (R309C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36365	NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys)	HNF4A (R311C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586023	NM_175914.5(HNF4A):c.932G>A (p.Arg311His)	HNF4A (R308H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586009	NM_175914.5(HNF4A):c.953T>A (p.Leu318Gln)	HNF4A (L315Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 447513	NM_175914.5(HNF4A):c.968del (p.Gln323fs)	HNF4A (Q323fs +3 more)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 744325	NM_175914.5(HNF4A):c.999C>T (p.Ile333=)	HNF4A	Single nucleotide variant (synonymous variant)	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young +4 more	GBenign/Likely benign
Select item 586010	NM_175914.5(HNF4A):c.1017C>T (p.Phe339=)	HNF4A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 1256558	NM_175914.5(HNF4A):c.1018G>A (p.Gly340Ser)	HNF4A (G337S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447514	NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 1 +5 more	GBenign/Likely benign
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 994897	NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs)	HNF4A (L349fs +3 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 586011	NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg)	HNF4A (G352R +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 36343	NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +6 more	GBenign/Likely benign
Select item 338428	NM_175914.5(HNF4A):c.1176C>T (p.Asn392=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 994899	NM_175914.5(HNF4A):c.1259G>A (p.Gly420Glu)	HNF4A (G407E +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 1807418	NM_175914.5(HNF4A):c.1268C>T (p.Pro423Leu)	HNF4A (P410L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807421	NM_175914.5(HNF4A):c.1316C>T (p.Ser439Phe)	HNF4A (S426F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36345	NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)	HNF4A (I431V +6 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 36346	NM_175914.5(HNF4A):c.*4G>A	HNF4A	Single nucleotide variant (3 prime UTR variant)	Monogenic diabetes	GUncertain significance FDA Recognized database

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Items: 82