"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "HNF4A"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1442643	NM_175914.5(HNF4A):c.-79C>T	HNF4A	Single nucleotide variant (5 prime UTR variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 689636	NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)	HNF4A (M1T)	Single nucleotide variant (missense variant +2 more)	Monogenic diabetes	GLikely pathogenicFDA Recognized database
Select item 1761584	NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)	HNF4A (S3R)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GUncertain significanceFDA Recognized database
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 2113101	NM_175914.5(HNF4A):c.49+15G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2857912	NM_175914.5(HNF4A):c.50-4746G>A	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 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 significanceFDA 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 specified +1 more	GConflicting classifications of pathogenicity
Select item 1432219	NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr)	HNF4A (A33T +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 586013	NM_175914.5(HNF4A):c.123C>T (p.Cys41=)	HNF4A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benignFDA 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 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 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 1510042	NM_175914.5(HNF4A):c.155C>A (p.Ala52Asp)	HNF4A (A67D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1492098	NM_175914.5(HNF4A):c.186C>G (p.Phe62Leu)	HNF4A (F62L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156152	NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)	HNF4A (R60W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenicFDA 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 2736967	NM_175914.5(HNF4A):c.199C>T (p.Arg67Trp)	HNF4A (R64W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenicFDA 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 393110	NM_175914.5(HNF4A):c.224+2T>C	HNF4A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 338425	NM_175914.5(HNF4A):c.224+17dup	HNF4A	Duplication (intron variant)	Monogenic diabetes	GBenignFDA Recognized database
Select item 728588	NM_175914.5(HNF4A):c.225-8C>T	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 2792913	NM_175914.5(HNF4A):c.228T>C (p.Phe76=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350522	NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)	HNF4A (R100Q +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +3 more	GUncertain significance
Select item 1338363	NM_175914.5(HNF4A):c.241G>A (p.Val81Met)	HNF4A (V103M +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 730174	NM_175914.5(HNF4A):c.282G>A (p.Arg94=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +1 more	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 735965	NM_175914.5(HNF4A):c.319+10G>A	HNF4A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
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 2724989	NM_175914.5(HNF4A):c.333G>A (p.Glu111=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 427034	NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)	HNF4A (R109Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenicFDA 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 pathogenicFDA Recognized database
Select item 931741	NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)	HNF4A (R136Q +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 129240	NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)	HNF4A (T114I +3 more)	Single nucleotide variant (missense variant)	Familial hyperinsulinism +6 more	GBenign/Likely benign
Select item 1457657	NM_175914.5(HNF4A):c.352C>T (p.Arg118Ter)	HNF4A (R118* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenicFDA Recognized database
Select item 1098751	NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln)	HNF4A (R115Q +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 804915	NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)	HNF4A (S142P +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance/Uncertain risk allele
Select item 36350	NM_175914.5(HNF4A):c.381G>A (p.Leu127=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 1 +4 more	GConflicting classifications of pathogenicity
Select item 36351	NM_175914.5(HNF4A):c.393T>C (p.Asn131=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +5 more	GConflicting classifications of pathogenicity
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 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 2844610	NM_175914.5(HNF4A):c.405G>A (p.Gln135=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 586015	NM_175914.5(HNF4A):c.408G>A (p.Ala136=)	HNF4A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benignFDA Recognized database
Select item 9211	NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter)	HNF4A (R141* +3 more)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenicFDA 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 significanceFDA Recognized database
Select item 36352	NM_175914.5(HNF4A):c.426+6G>A	HNF4A	Single nucleotide variant (intron variant)	Familial hyperinsulinism +3 more	GConflicting classifications of pathogenicity
Select item 737678	NM_175914.5(HNF4A):c.426+7G>C	HNF4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 447516	NM_175914.5(HNF4A):c.427-20C>T	HNF4A	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 1 +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 211146	NM_175914.5(HNF4A):c.427-5C>T	HNF4A	Single nucleotide variant (intron variant)	Monogenic diabetes	GLikely benignFDA Recognized database
Select item 447517	NM_175914.5(HNF4A):c.427-4G>A	HNF4A	Single nucleotide variant (intron variant)	not provided +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 significanceFDA Recognized database
Select item 36353	NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)	HNF4A (V147I +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1338343	NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)	HNF4A (G146R +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 449418	NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)	HNF4A (R152Q +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +4 more	GConflicting classifications of pathogenicity
Select item 2983066	NM_175914.5(HNF4A):c.474G>A (p.Lys158=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747947	NM_175914.5(HNF4A):c.489A>G (p.Ala163=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1399408	NM_175914.5(HNF4A):c.530T>C (p.Val177Ala)	HNF4A (V192A +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significanceFDA Recognized database
Select item 1436365	NM_175914.5(HNF4A):c.536G>A (p.Trp179Ter)	HNF4A (W179* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1720539	NM_175914.5(HNF4A):c.542A>C (p.Lys181Thr)	HNF4A (K178T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017314	NM_175914.5(HNF4A):c.561C>T (p.Cys187=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437566	NM_175914.5(HNF4A):c.562G>T (p.Glu188Ter)	HNF4A (E188* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1698544	NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu)	HNF4A (P187L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586017	NM_175914.5(HNF4A):c.576C>T (p.Asp192=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
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 2998498	NM_175914.5(HNF4A):c.582+9G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1658070	NM_175914.5(HNF4A):c.582+13G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033054	NM_175914.5(HNF4A):c.582+20G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386451	NM_175914.5(HNF4A):c.582+20G>C	HNF4A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1172869	NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)	HNF4A (A193D +3 more)	Single nucleotide variant (missense variant)	not provided +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 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 1588338	NM_175914.5(HNF4A):c.657C>T (p.Asp219=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2156487	NM_175914.5(HNF4A):c.661C>T (p.Leu221=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 36357	NM_175914.5(HNF4A):c.669A>G (p.Leu223=)	HNF4A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 1 +6 more	GBenign/Likely benign
Select item 1939252	NM_175914.5(HNF4A):c.670+8G>A	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976917	NM_175914.5(HNF4A):c.671-18C>G	HNF4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1512936	NM_175914.5(HNF4A):c.671-10A>G	HNF4A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2881631	NM_175914.5(HNF4A):c.672C>A (p.Gly224=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1186689	NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)	HNF4A (R228W +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenicFDA 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	GPathogenicFDA Recognized database
Select item 36358	NM_175914.5(HNF4A):c.696C>T (p.His232=)	HNF4A	Single nucleotide variant (synonymous variant)	Familial hyperinsulinism +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	GBenignFDA Recognized database
Select item 759881	NM_175914.5(HNF4A):c.726G>C (p.Val242=)	HNF4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 338427	NM_175914.5(HNF4A):c.726G>A (p.Val242=)	HNF4A	Single nucleotide variant (synonymous variant)	Hyperinsulinism, Dominant +3 more	GConflicting classifications of pathogenicity

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