Related gene-specific medical variations for Gene (Select 3172) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341140	NM_175914.5(HNF4A):c.583G>A (p.Val195Met)	HNF4A (V192M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248362	NC_000020.10:g.(?_43047045)_(43047172_?)del	HNF4A	Deletion	not provided	GPathogenic
Select item 3064750	NM_175914.5(HNF4A):c.460A>T (p.Ile154Phe)	HNF4A (I151F +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GUncertain significance
Select item 3062280	NM_175914.5(HNF4A):c.49+1G>T	HNF4A	Single nucleotide variant (splice donor variant)	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 2690995	NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)	HNF4A (S62I +3 more)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GLikely pathogenic
Select item 2684229	NM_175914.5(HNF4A):c.1051A>G (p.Met351Val)	HNF4A (M348V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582776	NM_175914.5(HNF4A):c.622C>T (p.Leu208Phe)	HNF4A (L205F +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1	GUncertain significance
Select item 2576160	NM_175914.5(HNF4A):c.263A>G (p.Asn88Ser)	HNF4A (N103S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502186	NM_175914.5(HNF4A):c.50-4589G>A	HNF4A (V33M)	Single nucleotide variant (missense variant +2 more)	Maturity-onset diabetes of the young type 1 +1 more	GUncertain significance
Select item 2432491	NM_175914.5(HNF4A):c.467C>G (p.Ala156Gly)	HNF4A (A153G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807422	NM_175914.5(HNF4A):c.50-4705G>A	HNF4A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1807420	NM_175914.5(HNF4A):c.292T>C (p.Cys98Arg)	HNF4A (C113R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807419	NM_175914.5(HNF4A):c.50-1G>A	HNF4A	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1807418	NM_175914.5(HNF4A):c.1268C>T (p.Pro423Leu)	HNF4A (P410L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803834	NM_175914.5(HNF4A):c.643A>G (p.Met215Val)	HNF4A (M212V +3 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 1 +1 more	GUncertain significance
Select item 1256560	NM_175914.5(HNF4A):c.468G>A (p.Ala156=)	HNF4A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1256559	NM_175914.5(HNF4A):c.1064-18G>A	HNF4A	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 1256558	NM_175914.5(HNF4A):c.1018G>A (p.Gly340Ser)	HNF4A (G337S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199400	GRCh37/hg19 20q13.12(chr20:42981187-42987120)x1	HNF4A	Copy number loss	See cases	GLikely pathogenic
Select item 36366	HNF4A deletion	HNF4A	Deletion	Maturity-onset diabetes of the young type 1	GLikely pathogenic
Select item 9214	HNF4A, 1-BP DEL, PHE75T	HNF4A	Deletion	Maturity-onset diabetes of the young type 1	GPathogenic

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Links from Gene

Items: 21