C1838100[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 972749	NM_000545.8(HNF1A):c.50T>A (p.Leu17His)	HNF1A (L17H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 929078	NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)	HNF1A (E18*)	Single nucleotide variant (nonsense)	Maturity onset diabetes mellitus in young +2 more	GPathogenic/Likely pathogenic
Select item 36798	NM_000545.8(HNF1A):c.130del (p.Leu44fs)	HNF1A (L44fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36804	NM_000545.8(HNF1A):c.150C>T (p.Cys50=)	HNF1A	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +7 more	GBenign/Likely benign
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 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 36815	NM_000545.8(HNF1A):c.252C>T (p.Pro84=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +3 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 36817	NM_000545.8(HNF1A):c.313dup (p.Glu105fs)	HNF1A (E105fs)	Duplication (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 36819	NM_000545.8(HNF1A):c.326+4A>G	HNF1A	Single nucleotide variant (intron variant)	Monogenic diabetes	GUncertain significance 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 36821	NM_000545.8(HNF1A):c.441C>A (p.His147Gln)	HNF1A (H147Q)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36822	NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)	HNF1A (T156M)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
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 36823	NM_000545.8(HNF1A):c.518_526+37del	HNF1A	Deletion (splice donor variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
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 435423	NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)	HNF1A (T196A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 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 36825	NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del)	HNF1A (K222del)	Microsatellite (inframe_deletion)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 36826	NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser)	HNF1A (P224S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 698851	NM_000545.8(HNF1A):c.685C>A (p.Arg229=)	HNF1A	Single nucleotide variant (synonymous variant)	Type 1 diabetes mellitus 20 +8 more	GConflicting classifications of pathogenicity
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 36827	NM_000545.8(HNF1A):c.713+14C>T	HNF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +7 more	GConflicting classifications of pathogenicity
Select item 36828	NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)	HNF1A (R244I)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36829	NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)	HNF1A (G245V)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36830	NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)	HNF1A (V264F)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 36831	NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)	HNF1A (F268S)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic 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 14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	HNF1A (G292fs)	Duplication (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 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 36835	NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)	HNF1A (Y322C)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 307461	NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)	HNF1A (G339S)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +8 more	GLikely benign
Select item 36795	NM_000545.8(HNF1A):c.1107+9C>G	HNF1A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 36796	NM_000545.8(HNF1A):c.1129del (p.Leu377fs)	HNF1A (L377fs)	Deletion (frameshift variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 1471754	NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)	HNF1A (P379H)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 134511	NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)	HNF1A (L389V)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 36797	NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro)	HNF1A (L422P)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36799	NM_000545.8(HNF1A):c.1310-12C>T	HNF1A	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 805629	NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)	HNF1A (T441K)	Single nucleotide variant (missense variant)	Type 1 diabetes mellitus 20 +7 more	GUncertain significance
Select item 36800	NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)	HNF1A	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 14928	NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	HNF1A (P447L)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
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 36803	NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)	HNF1A (Y503fs)	Microsatellite (frameshift variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
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 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)	Type 1 diabetes mellitus 20 +7 more	GConflicting classifications of pathogenicity
Select item 1391729	NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)	HNF1A (P519S)	Single nucleotide variant (missense variant)	Hepatic adenomas, familial +7 more	GUncertain significance
Select item 562466	NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)	HNF1A (D526N)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 36807	NM_000545.8(HNF1A):c.1624-19G>A	HNF1A	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 3 +3 more	GConflicting classifications of pathogenicity
Select item 36806	NM_000545.8(HNF1A):c.1624-15G>A	HNF1A (A544T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36808	NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)	HNF1A (L555F +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 36810	NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)	HNF1A (S581G +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GBenign FDA Recognized database
Select item 134512	NM_000545.8(HNF1A):c.1729C>G (p.His577Asp)	HNF1A (H577D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 14932	NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)	HNF1A (R583G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 14940	NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)	HNF1A (R583Q +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 36812	NM_000545.8(HNF1A):c.1768+65dup	HNF1A	Duplication (intron variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 586790	NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)	C12orf43, HNF1A	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 36813	NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)	C12orf43, HNF1A (I618M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 14935	NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)	C12orf43, HNF1A (T620I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GUncertain significance FDA Recognized database

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Items: 63