"GeneDx"[submitter] AND "HNF1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 387364	NM_000545.6(HNF1A):c.-527C>T	HNF1A	Single nucleotide variant	Maturity onset diabetes mellitus in young +1 more	GBenign/Likely benign
Select item 449034	NC_000012.12:g.120978302C>T	HNF1A	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
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 389514	NM_000545.5(HNF1A):c.-347G>A	HNF1A	Single nucleotide variant	not specified +1 more	GLikely benign
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 2443566	NC_000012.12:g.120978487A>G	HNF1A	Single nucleotide variant	not provided	GUncertain significance
Select item 1697171	NC_000012.12:g.120978493A>G	HNF1A	Single nucleotide variant	not provided	GUncertain significance
Select item 1315708	NM_000545.8(HNF1A):c.-181G>A	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 288582	NM_000545.8(HNF1A):c.-167TGGGGGT[3]	HNF1A	Microsatellite (5 prime UTR variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 1320426	NM_000545.8(HNF1A):c.-124G>C	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1204628	NM_000545.8(HNF1A):c.-96T>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1203907	NM_000545.8(HNF1A):c.-89T>C	HNF1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 435422	NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)	HNF1A (T10M)	Single nucleotide variant (missense 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 418252	NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala)	HNF1A (S19A)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
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 806957	NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys)	HNF1A (E48K)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
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 2574780	NM_000545.8(HNF1A):c.217G>A (p.Glu73Lys)	HNF1A (E73K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676700	NM_000545.8(HNF1A):c.225C>A (p.Asp75Glu)	HNF1A (D75E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1320772	NM_000545.8(HNF1A):c.247C>G (p.Pro83Ala)	HNF1A (P83A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 36818	NM_000545.8(HNF1A):c.326+20C>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +3 more	GBenign
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 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 676864	NM_000545.8(HNF1A):c.327-158C>T	HNF1A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1232183	NM_000545.8(HNF1A):c.327-91G>A	HNF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673535	NM_000545.8(HNF1A):c.327-42G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
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 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 1187378	NM_000545.8(HNF1A):c.361T>C (p.Ser121Pro)	HNF1A (S121P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1706101	NM_000545.8(HNF1A):c.458C>A (p.Pro153His)	HNF1A (P153H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317657	NM_000545.8(HNF1A):c.461T>C (p.Met154Thr)	HNF1A (M154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429750	NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)	HNF1A (R159W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586792	NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)	HNF1A (R159Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 377965	NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)	HNF1A (R171*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 2662839	NM_000545.8(HNF1A):c.518T>C (p.Val173Ala)	HNF1A (V173A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1256574	NM_000545.8(HNF1A):c.526+5_526+8del	HNF1A	Microsatellite (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 846588	NM_000545.8(HNF1A):c.526+1G>A	HNF1A	Single nucleotide variant (splice donor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 1218569	NM_000545.8(HNF1A):c.526+53C>G	HNF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253208	NM_000545.8(HNF1A):c.526+66G>C	HNF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676874	NM_000545.8(HNF1A):c.527-98G>A	HNF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674357	NM_000545.8(HNF1A):c.527-51T>A	HNF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673536	NM_000545.8(HNF1A):c.527-23C>T	HNF1A	Single nucleotide variant (intron variant)	Maturity onset diabetes mellitus in young +2 more	GBenign
Select item 449035	NM_000545.8(HNF1A):c.527-1G>A	HNF1A	Single nucleotide variant (splice acceptor variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 3369823	NM_000545.8(HNF1A):c.528G>C (p.Gln176His)	HNF1A (Q176H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36824	NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)	HNF1A (R200W)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 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 447496	NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)	HNF1A (G207D)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 586794	NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)	HNF1A (A209E)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1318912	NM_000545.8(HNF1A):c.644T>C (p.Phe215Ser)	HNF1A (F215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 134510	NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)	HNF1A (A239V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 452526	NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)	HNF1A (I242fs)	Duplication (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 1327605	NM_000545.8(HNF1A):c.722G>A (p.Cys241Tyr)	HNF1A (C241Y)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 3252774	NM_000545.8(HNF1A):c.751G>A (p.Ala251Thr)	HNF1A (A251T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 265436	NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)	HNF1A (T260M)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 1338571	NM_000545.8(HNF1A):c.794A>G (p.Tyr265Cys)	HNF1A (Y265C)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1676715	NM_000545.8(HNF1A):c.811del (p.Arg271fs)	HNF1A (R271fs)	Deletion (frameshift variant)	Monogenic diabetes	GLikely pathogenic 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 449403	NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)	HNF1A (R271Q)	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 36832	NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)	HNF1A (A276G)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 14945	NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)	HNF1A (A276D)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 1338671	NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)	HNF1A (P289T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +7 more	GUncertain significance
Select item 1315612	NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)	HNF1A (P289S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 805637	NM_000545.8(HNF1A):c.872del (p.Pro291fs)	HNF1A (P291fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972753	NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg)	HNF1A (P289R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 382774	NM_000545.8(HNF1A):c.870C>T (p.Pro290=)	HNF1A	Single nucleotide variant (synonymous variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 676860	NM_000545.8(HNF1A):c.955+94T>G	HNF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293418	NM_000545.8(HNF1A):c.956-221A>G	HNF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502593	NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)	HNF1A (V333fs)	Deletion (frameshift variant)	Maturity onset diabetes mellitus in young +1 more	GPathogenic/Likely pathogenic
Select item 972811	NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)	HNF1A (T354M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36795	NM_000545.8(HNF1A):c.1107+9C>G	HNF1A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1228030	NM_000545.8(HNF1A):c.1108-42G>T	HNF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1108836	NM_000545.8(HNF1A):c.1108-6del	HNF1A	Deletion (intron variant)	not provided	GLikely benign

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