"Genome-Nilou Lab"[submitter] AND "HNF1A"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 133355	NM_000545.8(HNF1A):c.1309+86TCAT[6]	HNF1A	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 129229	NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)	HNF1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 129230	NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)	HNF1A (S487N)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GBenign
Select item 129231	NM_000545.8(HNF1A):c.1501+7G>A	HNF1A	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 3 +5 more	GConflicting classifications of pathogenicity
Select item 135505	NM_000545.8(HNF1A):c.1623+29T>C	HNF1A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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