ClinVar for PubMed (Select 32395877) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from PubMed

Items: 1 to 100 of 226

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802530	NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu)	HNF1A (P289L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1801507	NM_000545.8(HNF1A):c.1309+86TCAT[8]	HNF1A	Microsatellite (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1801506	NM_000545.8(HNF1A):c.805G>T (p.Ala269Ser)	HNF1A (A269S)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 1801497	NM_000545.8(HNF1A):c.639C>A (p.Ile213=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1727242	NM_000545.8(HNF1A):c.1531C>G (p.Gln511Glu)	HNF1A (Q447E +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1727241	NM_022895.3(C12orf43):c.*1890C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727240	NM_000545.8(HNF1A):c.944G>C (p.Ser315Thr)	HNF1A (S315T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain risk allele
Select item 1727233	NM_000545.8(HNF1A):c.1494C>T (p.Ser498=)	HNF1A	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727232	NM_000545.8(HNF1A):c.60G>T (p.Gly20=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727231	NM_000545.8(HNF1A):c.152G>A (p.Gly51Asp)	HNF1A (G51D)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1727230	NM_000545.8(HNF1A):c.43G>A (p.Ala15Thr)	HNF1A (A15T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele
Select item 1727229	NM_022895.3(C12orf43):c.*2694A>C	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727228	NM_022895.3(C12orf43):c.*2768G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727227	NM_000545.8(HNF1A):c.30G>T (p.Thr10=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 1727226	NM_022895.3(C12orf43):c.*2922C>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1727225	NM_000545.8(HNF1A):c.1768+65del	HNF1A	Deletion (intron variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 1451808	NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer)	HNF1A	Deletion (nonsense)	Maturity onset diabetes mellitus in young +1 more	GPathogenic
Select item 1043641	NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp)	HNF1A (E508D)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1036297	NM_000545.8(HNF1A):c.355G>A (p.Val119Ile)	HNF1A (V119I)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 1026109	NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)	HNF1A	Deletion (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1025247	NM_000545.8(HNF1A):c.780G>A (p.Thr260=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3 +7 more	GConflicting classifications of pathogenicity
Select item 998283	NM_000545.8(HNF1A):c.775G>A (p.Val259Ile)	HNF1A (V259I)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 997923	NM_000545.8(HNF1A):c.680_683delinsTCCTCCACTT (p.Glu227_Glu228delinsValLeuHisLeu)	HNF1A	Indel (inframe_indel)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 997653	NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr)	HNF1A (M493T)	Single nucleotide variant (missense variant)	Nonpapillary renal cell carcinoma +2 more	GUncertain significance/Uncertain risk allele
Select item 995307	NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs)	HNF1A (P488fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 995306	NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)	HNF1A (G42D)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +7 more	GUncertain significance
Select item 994815	NM_000545.8(HNF1A):c.978G>A (p.Ala326=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 994550	NM_000545.8(HNF1A):c.537T>C (p.His179=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 994549	NM_000545.8(HNF1A):c.527-18G>A	HNF1A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 994548	NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter)	HNF1A (Q130*)	Single nucleotide variant (nonsense)	not provided +1 more	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 994546	NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)	HNF1A (Q9R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 994545	NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala)	C12orf43, HNF1A (V590A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 994544	NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)	HNF1A (S569N +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +7 more	GUncertain significance
Select item 994542	NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)	HNF1A (D546A +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +7 more	GUncertain significance/Uncertain risk allele
Select item 992219	NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg)	HNF1A (G415R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 982627	NM_000545.8(HNF1A):c.894G>A (p.Ala298=)	HNF1A	Single nucleotide variant (synonymous variant)	Type 1 diabetes mellitus 20 +2 more	GConflicting classifications of pathogenicity
Select item 979118	NM_000545.8(HNF1A):c.1731C>A (p.His577Gln)	HNF1A (H577Q +1 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance/Uncertain risk allele
Select item 979117	NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)	HNF1A (T425M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance/Uncertain risk allele
Select item 976400	NM_000545.8(HNF1A):c.1541dup (p.His514fs)	HNF1A (H514fs)	Duplication (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 972783	NM_000545.8(HNF1A):c.1502-6G>A	HNF1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 972770	NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)	HNF1A (R114C)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 972769	NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile)	HNF1A (T528I)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GUncertain significance/Uncertain risk allele
Select item 972768	NM_000545.8(HNF1A):c.1498C>A (p.His500Asn)	HNF1A (H500N)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GUncertain significance/Uncertain risk allele
Select item 972766	NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter)	HNF1A (Q466*)	Single nucleotide variant (nonsense)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic
Select item 972763	NM_000545.8(HNF1A):c.962G>A (p.Arg321His)	HNF1A (R321H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +6 more	GConflicting classifications of pathogenicity
Select item 972755	NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)	HNF1A (E235Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 972751	NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)	HNF1A (V115L)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 931202	NM_000545.8(HNF1A):c.1624-2A>G	HNF1A (Q548R)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GLikely pathogenic
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 918071	NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu)	HNF1A (S19L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance 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 917405	NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro)	HNF1A (A29P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 916727	NM_000545.8(HNF1A):c.1310-1G>A	HNF1A	Single nucleotide variant (splice acceptor variant +1 more)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 916726	NM_000545.8(HNF1A):c.1139del (p.Val380fs)	HNF1A (V380fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 884166	NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)	HNF1A (V167I)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance/Uncertain risk allele
Select item 883302	NM_022895.3(C12orf43):c.*2765C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 882514	NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)	HNF1A (Q583P +1 more)	Single nucleotide variant (missense variant)	Diabetes mellitus type 1 +6 more	GUncertain significance/Uncertain risk allele
Select item 882513	NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 882512	NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala)	HNF1A (T570A +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +1 more	GUncertain significance
Select item 882462	NM_000545.8(HNF1A):c.216C>T (p.Asp72=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 882301	NM_022895.3(C12orf43):c.*1796G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882300	NM_022895.3(C12orf43):c.*1871A>G	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882299	NM_022895.3(C12orf43):c.*1917C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882298	NM_022895.3(C12orf43):c.*2097G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GConflicting classifications of pathogenicity
Select item 882253	NM_000545.8(HNF1A):c.1533G>A (p.Gln511=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 3 +1 more	GUncertain significance/Uncertain risk allele
Select item 880943	NM_022895.3(C12orf43):c.*2340G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 880942	NM_022895.3(C12orf43):c.*2372G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 3 +1 more	GBenign/Likely benign
Select item 880941	NM_022895.3(C12orf43):c.*2626G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 880880	NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala)	HNF1A (T354A)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 871739	NM_000545.8(HNF1A):c.1768+1G>A	HNF1A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenic 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 817585	NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer)	HNF1A	Indel (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 805636	NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly)	HNF1A (E235G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic/Likely risk allele
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 805634	NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs)	HNF1A (R583fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 805633	NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn)	HNF1A (S574N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 805630	NM_000545.8(HNF1A):c.1516_1624-30del	HNF1A	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 805628	NM_000545.8(HNF1A):c.1140dup (p.Ser381fs)	HNF1A (S381fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 805627	NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)	HNF1A (P379fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 802898	NM_022895.3(C12orf43):c.*2096C>T	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 802897	NM_000545.8(HNF1A):c.1136del (p.Pro379fs)	HNF1A (P379fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 3 +1 more	GPathogenic/Likely pathogenic
Select item 797839	NM_000545.8(HNF1A):c.1281C>T (p.Thr427=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 728301	NM_000545.8(HNF1A):c.1464C>G (p.Pro488=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 702812	NM_000545.8(HNF1A):c.246G>A (p.Thr82=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 696411	NM_000545.8(HNF1A):c.156C>T (p.Gly52=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 695861	NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related condition +9 more	GBenign/Likely benign
Select item 695687	NM_000545.8(HNF1A):c.99G>A (p.Pro33=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 695395	NM_000545.8(HNF1A):c.1108-4G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +7 more	GConflicting classifications of pathogenicity
Select item 676921	NM_000545.8(HNF1A):c.1501+68A>G	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 676864	NM_000545.8(HNF1A):c.327-158C>T	HNF1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 676863	NM_000545.8(HNF1A):c.326+241T>C	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 676859	NM_000545.8(HNF1A):c.326+91A>G	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 675908	NM_000545.5(HNF1A):c.-400C>T	HNF1A	Single nucleotide variant	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 673536	NM_000545.8(HNF1A):c.527-23C>T	HNF1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 673535	NM_000545.8(HNF1A):c.327-42G>A	HNF1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 668324	NM_000545.8(HNF1A):c.519G>A (p.Val173=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +2 more	GBenign/Likely benign
Select item 617650	NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)	HNF1A (Q444fs)	Microsatellite (frameshift variant)	Maturity-onset diabetes of the young type 3 +2 more	GPathogenic/Likely risk allele
Select item 594360	NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp)	HNF1A (N149D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 591691	NM_000545.8(HNF1A):c.242T>C (p.Phe81Ser)	HNF1A (F81S)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely risk allele

<< First< Prev

Page of 3