HNF1A[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14933	NG_011731.2:g.4741A>C	HNF1A	Single nucleotide variant (genic upstream transcript variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 14936	NM_000545.8(HNF1A):c.-119del	HNF1A	Deletion (5 prime UTR variant)	Maturity-onset diabetes of the young type 3	GPathogenic
Select item 1342948	NM_000545.8(HNF1A):c.1A>C (p.Met1Leu)	HNF1A (M1L)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 502525	NM_000545.8(HNF1A):c.1A>T (p.Met1Leu)	HNF1A (M1L)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36814	NM_000545.8(HNF1A):c.1A>G (p.Met1Val)	HNF1A (M1V)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
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 447493	NM_000545.8(HNF1A):c.4del (p.Val2fs)	HNF1A (V2fs)	Deletion (frameshift variant +1 more)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1342950	NM_000545.8(HNF1A):c.16A>T (p.Ser6Cys)	HNF1A (S6C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1342951	NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn)	HNF1A (S6N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1338407	NM_000545.8(HNF1A):c.24_35dup (p.Gln9_Leu12dup)	HNF1A	Duplication (inframe_insertion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 562372	NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)	HNF1A (Q7*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1675060	NM_000545.8(HNF1A):c.25C>T (p.Gln9Ter)	HNF1A (Q9*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1679550	NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu)	HNF1A (Q9L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GLikely pathogenic
Select item 1675061	NM_000545.8(HNF1A):c.28A>C (p.Thr10Pro)	HNF1A (T10P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1675063	NM_000545.8(HNF1A):c.34C>T (p.Leu12Phe)	HNF1A (L12F)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1675062	NM_000545.8(HNF1A):c.34C>G (p.Leu12Val)	HNF1A (L12V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1675051	NM_000545.8(HNF1A):c.35T>G (p.Leu12Arg)	HNF1A (L12R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1675053	NM_000545.8(HNF1A):c.42_51delinsTG (p.Ala15fs)	HNF1A (A15fs)	Indel (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 1327599	NM_000545.8(HNF1A):c.58G>C (p.Gly20Arg)	HNF1A (G20R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1033090	NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg)	HNF1A (G20R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1327598	NM_000545.8(HNF1A):c.59G>A (p.Gly20Glu)	HNF1A (G20E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1327597	NM_000545.8(HNF1A):c.59G>C (p.Gly20Ala)	HNF1A (G20A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 562409	NM_000545.8(HNF1A):c.59G>T (p.Gly20Val)	HNF1A (G20V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1675058	NM_000545.8(HNF1A):c.71_72del (p.Glu24fs)	HNF1A (E24fs)	Microsatellite (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1676683	NM_000545.8(HNF1A):c.77T>C (p.Leu26Pro)	HNF1A (L26P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1342952	NM_000545.8(HNF1A):c.82C>T (p.Gln28Ter)	HNF1A (Q28*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1676705	NM_000545.8(HNF1A):c.94G>T (p.Glu32Ter)	HNF1A (E32*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1676707	NM_000545.8(HNF1A):c.98C>T (p.Pro33Leu)	HNF1A (P33L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1338508	NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)	HNF1A (Y36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1676712	NM_000545.8(HNF1A):c.121G>T (p.Glu41Ter)	HNF1A (E41*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36798	NM_000545.8(HNF1A):c.130del (p.Leu44fs)	HNF1A (L44fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1687081	NM_000545.8(HNF1A):c.129_130delinsA (p.Leu44fs)	HNF1A (L44fs)	Indel (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2735981	NM_000545.8(HNF1A):c.142dup (p.Glu48fs)	HNF1A (E48fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1677040	NM_000545.8(HNF1A):c.139_155del (p.Gly47fs)	HNF1A (G47fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 14938	NM_000545.8(HNF1A):c.142del (p.Glu48fs)	HNF1A (E48fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1337740	NM_000545.8(HNF1A):c.146C>A (p.Ser49Tyr)	HNF1A (S49Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1774157	NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)	HNF1A (C50*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 1802525	NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly)	HNF1A (R54G)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 805632	NM_000545.8(HNF1A):c.160C>T (p.Arg54Ter)	HNF1A (R54*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1676685	NM_000545.8(HNF1A):c.164_168del (p.Gly55fs)	HNF1A (G55fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2865059	NM_000545.8(HNF1A):c.166G>T (p.Glu56Ter)	HNF1A (E56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 36809	NM_000545.8(HNF1A):c.169del (p.Leu57fs)	HNF1A (L57fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2707891	NM_000545.8(HNF1A):c.174dup (p.Glu59Ter)	HNF1A (E59*)	Duplication (nonsense)	not provided	GPathogenic
Select item 1676686	NM_000545.8(HNF1A):c.185del (p.Asn62fs)	HNF1A (N62fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1676687	NM_000545.8(HNF1A):c.186del (p.Asn62fs)	HNF1A (N62fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1676689	NM_000545.8(HNF1A):c.196dup (p.Glu66fs)	HNF1A (E66fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1676691	NM_000545.8(HNF1A):c.206del (p.Gly69fs)	HNF1A (G69fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2086630	NM_000545.8(HNF1A):c.211G>T (p.Glu71Ter)	HNF1A (E71*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1676694	NM_000545.8(HNF1A):c.217G>T (p.Glu73Ter)	HNF1A (E73*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2735982	NM_000545.8(HNF1A):c.244_245insGA (p.Thr82fs)	HNF1A (T82fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1676695	NM_000545.8(HNF1A):c.259A>T (p.Lys87Ter)	HNF1A (K87*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 2035581	NM_000545.8(HNF1A):c.262G>T (p.Glu88Ter)	HNF1A (E88*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1676696	NM_000545.8(HNF1A):c.282dup (p.Glu95Ter)	HNF1A (E95*)	Duplication (nonsense)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 36817	NM_000545.8(HNF1A):c.313dup (p.Glu105fs)	HNF1A (E105fs)	Duplication (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 3024563	NM_000545.8(HNF1A):c.319C>G (p.Leu107Val)	HNF1A (L107V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1327593	NM_000545.8(HNF1A):c.319C>A (p.Leu107Ile)	HNF1A (L107I)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1334149	NM_000545.8(HNF1A):c.320T>C (p.Leu107Pro)	HNF1A (L107P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1334148	NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg)	HNF1A (L107R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1693223	NM_000545.8(HNF1A):c.326+1G>A	HNF1A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1693222	NM_000545.8(HNF1A):c.326+1G>C	HNF1A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1338520	NM_000545.8(HNF1A):c.326+1G>T	HNF1A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447486	NM_000545.8(HNF1A):c.326+2T>G	HNF1A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 805635	NM_000545.8(HNF1A):c.327-3_327-1del	HNF1A	Deletion (splice acceptor variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 1687072	NM_000545.8(HNF1A):c.327-2A>T	HNF1A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1804170	NM_000545.8(HNF1A):c.327-1G>A	HNF1A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1687073	NM_000545.8(HNF1A):c.327-1G>T	HNF1A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2684075	NM_000545.8(HNF1A):c.335del (p.Pro112fs)	HNF1A (P112fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 14942	NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)	HNF1A (P112L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1526021	NM_000545.8(HNF1A):c.338G>A (p.Trp113Ter)	HNF1A (W113*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young	GPathogenic
Select item 1342953	NM_000545.8(HNF1A):c.342dup (p.Val115fs)	HNF1A (V115fs)	Duplication (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1700671	NM_000545.8(HNF1A):c.347C>T (p.Ala116Val)	HNF1A (A116V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 2581123	NM_000545.8(HNF1A):c.360G>C (p.Lys120Asn)	HNF1A (K120N)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 14930	NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)	HNF1A (Y122C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1365349	NM_000545.8(HNF1A):c.366C>A (p.Tyr122Ter)	HNF1A (Y122*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 994547	NM_000545.8(HNF1A):c.367C>G (p.Leu123Val)	HNF1A (L123V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 36820	NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)	HNF1A	Microsatellite (inframe_insertion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 586791	NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)	HNF1A (Q124*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
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 2149072	NM_000545.8(HNF1A):c.377A>G (p.His126Arg)	HNF1A (H126R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1693218	NM_000545.8(HNF1A):c.377ACA[1] (p.Asn127del)	HNF1A (N127del)	Microsatellite (inframe_deletion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 994548	NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter)	HNF1A (Q130*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 14943	NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)	HNF1A (R131W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 562373	NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)	HNF1A (R131Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447488	NM_000545.8(HNF1A):c.392G>T (p.Arg131Leu)	HNF1A (R131L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1479078	NM_000545.8(HNF1A):c.397G>A (p.Val133Met)	HNF1A (V133M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1693220	NM_000545.8(HNF1A):c.399_405del (p.Val134fs)	HNF1A (V134fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1700001	NM_000545.8(HNF1A):c.404del (p.Asp135fs)	HNF1A (D135fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 918061	NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala)	HNF1A (D135A)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 1940407	NM_000545.8(HNF1A):c.416T>C (p.Leu139Pro)	HNF1A (L139P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1327620	NM_000545.8(HNF1A):c.425C>T (p.Ser142Phe)	HNF1A (S142F)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1327607	NM_000545.8(HNF1A):c.427del (p.His143fs)	HNF1A (H143fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1327606	NM_000545.8(HNF1A):c.427C>T (p.His143Tyr)	HNF1A (H143Y)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1327604	NM_000545.8(HNF1A):c.429C>G (p.His143Gln)	HNF1A (H143Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1338510	NM_000545.8(HNF1A):c.431T>G (p.Leu144Arg)	HNF1A (L144R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447489	NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe)	HNF1A (S145F)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2022274	NM_000545.8(HNF1A):c.452del (p.Gly151fs)	HNF1A (G151fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1338456	NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter)	HNF1A (K158*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1676704	NM_000545.8(HNF1A):c.475C>G (p.Arg159Gly)	HNF1A (R159G)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database

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