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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36349	NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)	HNF4A (S121G +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely benign FDA Recognized database
Select item 972784	NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)	HNF4A (R138Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 447517	NM_175914.5(HNF4A):c.427-4G>A	HNF4A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus +3 more	GConflicting classifications of pathogenicity
Select item 36353	NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)	HNF4A (V147I +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 972785	NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)	HNF4A (L194M +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GUncertain significance FDA Recognized database
Select item 36360	NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)	HNF4A (E256D +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 633668	NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)	HNF4A (Y261C +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +3 more	GConflicting classifications of pathogenicity
Select item 632373	NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)	HNF4A (R285Q +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 804918	NM_175914.5(HNF4A):c.869G>A (p.Arg290His)	HNF4A (R312H +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 36364	NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)	HNF4A (R309C +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GPathogenic FDA Recognized database
Select item 972810	NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)	HNF4A (R306L +3 more)	Single nucleotide variant (missense variant)	Monogenic diabetes	GLikely pathogenic FDA Recognized database
Select item 586023	NM_175914.5(HNF4A):c.932G>A (p.Arg311His)	HNF4A (R308H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity