"GeneDx"[submitter] AND "HNF4A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435431	NM_175914.4(HNF4A):c.-401G>A	HNF4A	Single nucleotide variant	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 435432	NM_175914.4(HNF4A):c.-278G>A	HNF4A	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 1691803	NC_000020.11:g.44355626_44355638del	HNF4A	Deletion	not provided	GUncertain significance
Select item 1700822	NC_000020.11:g.44355673A>G	HNF4A	Single nucleotide variant	not provided	GUncertain significance
Select item 1198303	NM_175914.4(HNF4A):c.-129T>C	HNF4A	Single nucleotide variant	not specified +1 more	GLikely benign
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 689636	NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)	HNF4A (M1T)	Single nucleotide variant (missense variant +2 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1260479	NM_175914.5(HNF4A):c.50-5034T>C	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302796	NM_175914.5(HNF4A):c.50-4751_50-4745del	HNF4A	Microsatellite (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 674361	NM_175914.5(HNF4A):c.50-4538G>A	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 1244451	NM_175914.5(HNF4A):c.50-4387A>C	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667605	NM_175914.5(HNF4A):c.50-4263G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265216	NM_175914.5(HNF4A):c.50-230A>G	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293425	NM_175914.5(HNF4A):c.50-226C>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183889	NM_175914.5(HNF4A):c.50-216C>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220810	NM_175914.5(HNF4A):c.50-185C>G	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197222	NM_175914.5(HNF4A):c.50-42T>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673538	NM_175914.5(HNF4A):c.50-38T>C	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
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 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 1302890	NM_175914.5(HNF4A):c.81C>T (p.Asn27=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 524154	NM_175914.5(HNF4A):c.100del (p.Val34fs)	HNF4A (V49fs +3 more)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1308485	NM_175914.5(HNF4A):c.119T>A (p.Ile40Asn)	HNF4A (I37N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305168	NM_175914.5(HNF4A):c.128A>T (p.Asp43Val)	HNF4A (D40V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372960	NM_175914.5(HNF4A):c.130C>T (p.Arg44Trp)	HNF4A (R41W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 372382	NM_175914.5(HNF4A):c.188G>A (p.Arg63Gln)	HNF4A (R60Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 546494	NM_175914.5(HNF4A):c.195C>A (p.Ser65Arg)	HNF4A (S62R +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
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 393110	NM_175914.5(HNF4A):c.224+2T>C	HNF4A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 338425	NM_175914.5(HNF4A):c.224+17dup	HNF4A	Duplication (intron variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 667606	NM_175914.5(HNF4A):c.224+266C>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667607	NM_175914.5(HNF4A):c.224+288G>C	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 1237335	NM_175914.5(HNF4A):c.225-278A>G	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235855	NM_175914.5(HNF4A):c.225-241C>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209284	NM_175914.5(HNF4A):c.225-181A>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1311406	NM_175914.5(HNF4A):c.239G>A (p.Cys80Tyr)	HNF4A (C102Y +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3370944	NM_175914.5(HNF4A):c.301G>T (p.Ala101Ser)	HNF4A (A101S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200389	NM_175914.5(HNF4A):c.319G>A (p.Ala107Thr)	HNF4A (A104T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1290004	NM_175914.5(HNF4A):c.319+283TG[18]	HNF4A	Microsatellite (intron variant)	not provided	GBenign
Select item 1286257	NM_175914.5(HNF4A):c.319+283TG[21]	HNF4A	Microsatellite (intron variant)	not provided	GBenign
Select item 1265044	NM_175914.5(HNF4A):c.319+283TG[19]	HNF4A	Microsatellite (intron variant)	not provided	GBenign
Select item 1231677	NM_175914.5(HNF4A):c.319+283TG[20]	HNF4A	Microsatellite (intron variant)	not provided	GBenign
Select item 1203701	NM_175914.5(HNF4A):c.319+283TG[22]	HNF4A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1188378	NM_175914.5(HNF4A):c.319+283TG[16]	HNF4A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1247131	NM_175914.5(HNF4A):c.319+2667T>C	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204316	NM_175914.5(HNF4A):c.320-311G>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197593	NM_175914.5(HNF4A):c.320-270A>G	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200595	NM_175914.5(HNF4A):c.320-243C>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676906	NM_175914.5(HNF4A):c.320-204C>G	HNF4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1198181	NM_175914.5(HNF4A):c.320-100C>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197201	NM_175914.5(HNF4A):c.320-47T>C	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197960	NM_175914.5(HNF4A):c.320-34T>C	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3342852	NM_175914.5(HNF4A):c.335G>C (p.Arg112Pro)	HNF4A (R109P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 129240	NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)	HNF4A (T114I +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +6 more	GBenign/Likely benign
Select item 36349	NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)	HNF4A (S121G +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 36351	NM_175914.5(HNF4A):c.393T>C (p.Asn131=)	HNF4A	Single nucleotide variant (synonymous variant)	Type 2 diabetes mellitus +5 more	GConflicting classifications of pathogenicity
Select item 450787	NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)	HNF4A (Q132* +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 1213324	NM_175914.5(HNF4A):c.426+105G>C	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676907	NM_175914.5(HNF4A):c.426+140C>G	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 1214843	NM_175914.5(HNF4A):c.426+166C>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186966	NM_175914.5(HNF4A):c.426+175G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676908	NM_175914.5(HNF4A):c.427-197A>C	HNF4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 674363	NM_175914.5(HNF4A):c.427-96C>G	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 674364	NM_175914.5(HNF4A):c.427-52G>A	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
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 449418	NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)	HNF4A (R152Q +3 more)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 488999	NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter)	HNF4A (Q169* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1216008	NM_175914.5(HNF4A):c.529G>A (p.Val177Ile)	HNF4A (V174I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely 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 617652	NM_175914.5(HNF4A):c.582+1G>A	HNF4A	Single nucleotide variant (splice donor 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 386451	NM_175914.5(HNF4A):c.582+20G>C	HNF4A	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1206599	NM_175914.5(HNF4A):c.582+42C>T	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195106	NM_175914.5(HNF4A):c.583-77G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 510584	NM_175914.5(HNF4A):c.624C>T (p.Leu208=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +4 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 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 676879	NM_175914.5(HNF4A):c.670+141A>G	HNF4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 676880	NM_175914.5(HNF4A):c.670+196G>A	HNF4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 36358	NM_175914.5(HNF4A):c.696C>T (p.His232=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +4 more	GBenign/Likely benign
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 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 338427	NM_175914.5(HNF4A):c.726G>A (p.Val242=)	HNF4A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 1303097	NM_175914.5(HNF4A):c.733C>A (p.Arg245Ser)	HNF4A (R242S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 435438	NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro)	HNF4A (L244P +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database

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