"Ambry Genetics"[submitter] AND "HNF1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447492	NM_000545.8(HNF1A):c.-4A>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	Nonpapillary renal cell carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 1342949	NM_000545.8(HNF1A):c.2T>C (p.Met1Thr)	HNF1A (M1T)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 307455	NM_000545.8(HNF1A):c.30G>A (p.Thr10=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 129234	NM_000545.8(HNF1A):c.51C>G (p.Leu17=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 929078	NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)	HNF1A (E18*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 14937	NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)	HNF1A (I27L)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 14948	NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)	HNF1A (G31D)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 695687	NM_000545.8(HNF1A):c.99G>A (p.Pro33=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36798	NM_000545.8(HNF1A):c.130del (p.Leu44fs)	HNF1A (L44fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1774157	NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)	HNF1A (C50*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 134503	NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)	HNF1A (G52A)	Indel (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 696411	NM_000545.8(HNF1A):c.156C>T (p.Gly52=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2453846	NM_000545.8(HNF1A):c.204G>A (p.Arg68=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1785204	NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)	HNF1A (G69S)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 134504	NM_000545.8(HNF1A):c.210C>T (p.Ser70=)	HNF1A	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +3 more	GBenign/Likely benign
Select item 134505	NM_000545.8(HNF1A):c.225C>T (p.Asp75=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 36815	NM_000545.8(HNF1A):c.252C>T (p.Pro84=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 129227	NM_000545.8(HNF1A):c.276C>T (p.Leu92=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 36816	NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)	HNF1A (P94L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3232044	NM_000545.8(HNF1A):c.286G>A (p.Glu96Lys)	HNF1A (E96K)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 3232045	NM_000545.8(HNF1A):c.292G>A (p.Ala98Thr)	HNF1A (A98T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 129233	NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)	HNF1A (A98V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GBenign/Likely benign
Select item 435418	NM_000545.8(HNF1A):c.306C>T (p.Ala102=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 1337730	NM_000545.8(HNF1A):c.309G>T (p.Val103=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 256599	NM_000545.8(HNF1A):c.326+6_326+10dup	HNF1A	Duplication (intron variant)	Type 2 diabetes mellitus +8 more	GBenign/Likely benign
Select item 805635	NM_000545.8(HNF1A):c.327-3_327-1del	HNF1A	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 307459	NM_000545.8(HNF1A):c.336G>A (p.Pro112=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1731923	NM_000545.8(HNF1A):c.348G>A (p.Ala116=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1732973	NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)	HNF1A (K120E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2587710	NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter)	HNF1A (Q125*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 2568072	NM_000545.8(HNF1A):c.408C>G (p.Thr136=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1739694	NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)	HNF1A (L144P)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1743095	NM_000545.8(HNF1A):c.478del (p.Ala160fs)	HNF1A (A160fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 3106362	NM_000545.8(HNF1A):c.479C>T (p.Ala160Val)	HNF1A (A160V)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1317072	NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro)	HNF1A (T164P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 2164895	NM_000545.8(HNF1A):c.492C>G (p.Thr164=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 1744462	NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)	HNF1A (Y166H)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 377965	NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)	HNF1A (R171*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 668324	NM_000545.8(HNF1A):c.519G>A (p.Val173=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 372380	NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)	HNF1A (Q176*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1746441	NM_000545.8(HNF1A):c.526+1G>T	HNF1A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1746519	NM_000545.8(HNF1A):c.527-1G>C	HNF1A	Single nucleotide variant (splice acceptor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 435423	NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)	HNF1A (T196A)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
Select item 381588	NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)	HNF1A (R200Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1676706	NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser)	HNF1A (R203S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1338381	NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys)	HNF1A (R203C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 129235	NM_000545.8(HNF1A):c.608G>A (p.Arg203His)	HNF1A (R203H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 420064	NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)	HNF1A (R229*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 379904	NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)	HNF1A (R229Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 307460	NM_000545.8(HNF1A):c.693G>A (p.Thr231=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1756327	NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)	HNF1A (L232P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1757273	NM_000545.8(HNF1A):c.711T>C (p.Asn237=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1757524	NM_000545.8(HNF1A):c.717G>A (p.Ala239=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1327595	NM_000545.8(HNF1A):c.737T>C (p.Val246Ala)	HNF1A (V246A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1592962	NM_000545.8(HNF1A):c.759G>T (p.Gly253=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1674361	NM_000545.8(HNF1A):c.765C>G (p.Gly255=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1025247	NM_000545.8(HNF1A):c.780G>A (p.Thr260=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 379138	NM_000545.8(HNF1A):c.788G>A (p.Arg263His)	HNF1A (R263H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 265193	NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)	HNF1A (R271W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447503	NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)	HNF1A (R272C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 14931	NM_000545.8(HNF1A):c.815G>A (p.Arg272His)	HNF1A (R272H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1762872	NM_000545.8(HNF1A):c.830del (p.Phe277fs)	HNF1A (F277fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1763147	NM_000545.8(HNF1A):c.837C>T (p.His279=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1763396	NM_000545.8(HNF1A):c.843G>C (p.Leu281=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 972752	NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)	HNF1A (G288W)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +2 more	GConflicting classifications of pathogenicity
Select item 435424	NM_000545.8(HNF1A):c.864del (p.Pro291fs)	HNF1A (P291fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 817605	NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)	HNF1A (G292fs)	Indel (frameshift variant)	Monogenic diabetes +2 more	GPathogenic/Likely pathogenic
Select item 129236	NM_000545.8(HNF1A):c.864G>C (p.Gly288=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A (G292fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1764261	NM_000545.8(HNF1A):c.867C>A (p.Pro289=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 447505	NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser)	HNF1A (P291S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 3284531	NM_000545.8(HNF1A):c.918C>T (p.Gly306=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 36834	NM_000545.8(HNF1A):c.954C>T (p.His318=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1767359	NM_000545.8(HNF1A):c.955+2T>C	HNF1A	Single nucleotide variant (splice donor variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 994815	NM_000545.8(HNF1A):c.978G>A (p.Ala326=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 1134661	NM_000545.8(HNF1A):c.1011C>T (p.Ser337=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 1734471	NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)	HNF1A (G338S)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 695395	NM_000545.8(HNF1A):c.1108-4G>A	HNF1A	Single nucleotide variant (intron variant)	Diabetes mellitus type 1 +7 more	GConflicting classifications of pathogenicity
Select item 431970	NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)	HNF1A (P379A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 805627	NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)	HNF1A (P379fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 3 +2 more	GPathogenic/Likely pathogenic
Select item 435426	NM_000545.8(HNF1A):c.1137del (p.Val380fs)	HNF1A (V380fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 134511	NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)	HNF1A (L389V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1588706	NM_000545.8(HNF1A):c.1272T>C (p.Pro424=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 2882865	NM_000545.8(HNF1A):c.1275G>A (p.Thr425=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 36800	NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 617650	NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	HNF1A (Q444fs)	Microsatellite (frameshift variant)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely risk allele
Select item 1026109	NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)	HNF1A	Deletion (inframe_deletion)	Maturity onset diabetes mellitus in young +5 more	GConflicting classifications of pathogenicity
Select item 129229	NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 256594	NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 435419	NM_000545.8(HNF1A):c.1383C>T (p.Pro461=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 447482	NM_000545.8(HNF1A):c.1386C>T (p.Val462=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 36801	NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)	HNF1A (P475L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 256595	NM_000545.8(HNF1A):c.1425G>A (p.Pro475=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 695861	NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)	HNF1A	Single nucleotide variant (synonymous variant)	Diabetes mellitus type 1 +8 more	GBenign/Likely benign
Select item 129230	NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)	HNF1A (S487N)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GBenign
Select item 586786	NM_000545.8(HNF1A):c.1500C>T (p.His500=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129231	NM_000545.8(HNF1A):c.1501+7G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 3 +5 more	GConflicting classifications of pathogenicity
Select item 135665	NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)	HNF1A (E508K)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 36805	NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 435421	NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)	HNF1A (H514R)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity

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