HNF4A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 1337204	NM_175914.4(HNF4A):c.-584A>T	HNF4A, R3HDML-AS1	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
Select item 435430	NM_175914.4(HNF4A):c.-565T>C	HNF4A, R3HDML-AS1	Single nucleotide variant (non-coding transcript variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1336599	NM_175914.4(HNF4A):c.-426C>G	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 435431	NM_175914.4(HNF4A):c.-401G>A	HNF4A	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1336763	NM_175914.4(HNF4A):c.-378T>A	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 435432	NM_175914.4(HNF4A):c.-278G>A	HNF4A	Single nucleotide variant	not specified +2 more	GBenign/Likely benign
Select item 435433	NM_175914.4(HNF4A):c.-276G>T	HNF4A	Single nucleotide variant	not provided +1 more	GBenign
Select item 1336901	NM_175914.4(HNF4A):c.-197G>A	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 2691837	Single allele	HNF4A	Single nucleotide variant	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2578344	Single allele	HNF4A	Single nucleotide variant	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1691803	NC_000020.11:g.44355626_44355638del	HNF4A	Deletion	not provided	GUncertain significance
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 1299750	NM_175914.5(HNF4A):c.-181G>A	HNF4A	Single nucleotide variant	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1337271	NM_175914.4(HNF4A):c.-171A>G	HNF4A	Single nucleotide variant	not specified	GUncertain significance
Select item 3351476	NC_000020.11:g.44355659T>C	HNF4A	Single nucleotide variant	HNF4A-related disorder	GLikely pathogenic
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 435434	NM_175914.5(HNF4A):c.-83C>T	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance/Uncertain risk allele
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 1337587	NM_175914.5(HNF4A):c.-46C>A	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1336871	NM_175914.5(HNF4A):c.-44C>T	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1337492	NM_175914.5(HNF4A):c.-18G>A	HNF4A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3238975	NM_175914.5(HNF4A):c.1A>G (p.Met1Val)	HNF4A (M1V)	Single nucleotide variant (missense variant +2 more)	Monogenic diabetes	GPathogenic FDA Recognized database
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 3238976	NM_175914.5(HNF4A):c.2T>A (p.Met1Lys)	HNF4A (M1K)	Single nucleotide variant (missense variant +2 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
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 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 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 2883412	NM_175914.5(HNF4A):c.12G>C (p.Val4=)	HNF4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1691373	NM_175914.5(HNF4A):c.47dup (p.Tyr16Ter)	HNF4A (Y16*)	Duplication (nonsense +1 more)	Hyperinsulinism due to HNF1A deficiency	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 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 987820	NM_175914.5(HNF4A):c.49+13G>A	HNF4A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2113101	NM_175914.5(HNF4A):c.49+15G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260479	NM_175914.5(HNF4A):c.50-5034T>C	HNF4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 338422	NM_175914.5(HNF4A):c.50-4791_50-4788del	HNF4A	Microsatellite (5 prime UTR variant +1 more)	Hyperinsulinism, Dominant +1 more	GConflicting classifications of pathogenicity
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 3050992	NM_175914.5(HNF4A):c.50-4758A>G	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	HNF4A-related disorder	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 disorder	GLikely benign
Select item 338423	NM_175914.5(HNF4A):c.50-4753G>A	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2059800	NM_175914.5(HNF4A):c.50-4751A>G	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 disorder	GLikely benign
Select item 2857912	NM_175914.5(HNF4A):c.50-4746G>A	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 338424	NM_175914.5(HNF4A):c.50-4700G>A	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	Familial hyperinsulinism +3 more	GConflicting classifications of pathogenicity
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 1328340	NM_175914.5(HNF4A):c.50-4665C>T	HNF4A	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 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 3039013	NM_175914.5(HNF4A):c.50-4563G>A	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related disorder	GLikely benign
Select item 3055187	NM_175914.5(HNF4A):c.50-4562G>A	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related disorder	GLikely benign
Select item 2442326	NM_175914.5(HNF4A):c.50-4560G>T	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 828113	NM_175914.5(HNF4A):c.50-4560G>A	HNF4A	Single nucleotide variant (intron variant)	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	GUncertain significance
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 994898	NM_175914.5(HNF4A):c.50-4496C>T	HNF4A	Single nucleotide variant (intron variant)	not provided +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 1255603	NM_175914.5(HNF4A):c.50-3462C>T	HNF4A (R16*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic liver disease	GLikely pathogenic
Select item 3037043	NM_175914.5(HNF4A):c.50-3406A>G	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related disorder	GLikely benign
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 3034594	NM_175914.5(HNF4A):c.50-4G>A	HNF4A	Single nucleotide variant (intron variant)	HNF4A-related disorder	GLikely 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 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 3238977	NM_175914.5(HNF4A):c.62C>A (p.Ser21Ter)	HNF4A (S18* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3381208	NM_175914.5(HNF4A):c.68del (p.Gly23fs)	HNF4A (G20fs +3 more)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
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 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 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 1945151	NM_175914.5(HNF4A):c.86C>A (p.Pro29His)	HNF4A (P29H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 930005	NM_175914.5(HNF4A):c.101T>A (p.Val34Asp)	HNF4A (V34D +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance/Uncertain risk allele
Select item 1432219	NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr)	HNF4A (A33T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984525	NM_175914.5(HNF4A):c.111G>T (p.Leu37=)	HNF4A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1733802	NM_175914.5(HNF4A):c.114T>C (p.Cys38=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
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 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 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 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 797392	NM_175914.5(HNF4A):c.126G>C (p.Gly42=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
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 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 917408	NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln)	HNF4A (R41Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 3030196	NM_175914.5(HNF4A):c.138G>T (p.Thr46=)	HNF4A	Single nucleotide variant (synonymous variant)	HNF4A-related disorder	GLikely benign
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 3358878	NM_175914.5(HNF4A):c.152dup (p.Ala52fs)	HNF4A (A49fs +3 more)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1510042	NM_175914.5(HNF4A):c.155C>A (p.Ala52Asp)	HNF4A (A67D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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