"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HNF1A"[gen - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1204628	NM_000545.8(HNF1A):c.-96T>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	HNF1A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 447492	NM_000545.8(HNF1A):c.-4A>G	HNF1A	Single nucleotide variant (5 prime UTR variant)	Maturity-onset diabetes of the young type 3 +4 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 2899495	NM_000545.8(HNF1A):c.132G>A (p.Leu44=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694681	NM_000545.8(HNF1A):c.153C>T (p.Gly51=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
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 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 129227	NM_000545.8(HNF1A):c.276C>T (p.Leu92=)	HNF1A	Single nucleotide variant (synonymous variant)	Nonpapillary renal cell carcinoma +4 more	GBenign/Likely benign
Select item 307459	NM_000545.8(HNF1A):c.336G>A (p.Pro112=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related condition +4 more	GBenign/Likely benign
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 307460	NM_000545.8(HNF1A):c.693G>A (p.Thr231=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1711353	NM_000545.8(HNF1A):c.754C>T (p.Gln252Ter)	HNF1A (Q252*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1335121	NM_000545.8(HNF1A):c.819A>T (p.Lys273Asn)	HNF1A (K273N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 36833	NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg)	HNF1A (P291R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 1701214	NM_000545.8(HNF1A):c.899_900delinsTCCCCTG (p.Pro300fs)	HNF1A (P300fs)	Indel (frameshift variant)	not provided	GPathogenic
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 1675516	NM_000545.8(HNF1A):c.1136C>G (p.Pro379Arg)	HNF1A (P379R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 447482	NM_000545.8(HNF1A):c.1386C>T (p.Val462=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +8 more	GBenign/Likely benign
Select item 586786	NM_000545.8(HNF1A):c.1500C>T (p.His500=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 36805	NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +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)	Maturity-onset diabetes of the young type 3 +7 more	GConflicting classifications of pathogenicity
Select item 667246	NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)	HNF1A (T525S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +8 more	GUncertain significance
Select item 586787	NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)	HNF1A (A532T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GUncertain significance
Select item 1779194	NM_000545.8(HNF1A):c.1740G>A (p.Pro580=)	HNF1A	Single nucleotide variant (synonymous variant)	HNF1A-related condition +2 more	GLikely benign
Select item 14940	NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	HNF1A (R583Q +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
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 307476	NM_022895.3(C12orf43):c.*1649G>A	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 493603	GRCh37/hg19 12q24.31(chr12:121017665-121496723)x3	ACADS, C12orf43 +7 more	Copy number gain	not provided	GLikely benign

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Items: 28