"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 882461	NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)	HNF1A (G47R)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
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 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 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 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 972757	NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)	HNF1A (A161T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 972756	NM_000545.8(HNF1A):c.503G>A (p.Arg168His)	HNF1A (R168H)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GUncertain significance
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 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 972754	NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter)	HNF1A (Q250*)	Single nucleotide variant (nonsense)	Monogenic diabetes	GPathogenic FDA Recognized database
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 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 972752	NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)	HNF1A (G288W)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +2 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 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 972814	NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)	HNF1A (P291T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance 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 972813	NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)	HNF1A (A311D)	Single nucleotide variant (missense variant)	HNF1A-related condition +1 more	GUncertain significance
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 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 972818	NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)	HNF1A (P379T)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance 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 972782	NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr)	HNF1A (M412T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3	GUncertain significance
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 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 972767	NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)	HNF1A (P467L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 3 +5 more	GUncertain significance
Select item 36801	NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)	HNF1A (P475L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 972781	NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg)	HNF1A (S498R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 972780	NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)	HNF1A (A501T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
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 972779	NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser)	HNF1A (T513S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 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 36811	NM_000545.8(HNF1A):c.1745A>G (p.His582Arg)	HNF1A (H582R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 972765	NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)	C12orf43, HNF1A (V617I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Monogenic diabetes	GBenign FDA Recognized database
Select item 972764	NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)	C12orf43, HNF1A (E619K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 3 +2 more	GConflicting classifications of pathogenicity

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Items: 42