INF2 Chromosome 14

Inverted formin 2
215 variants 1 Drug Response 214 Health Risk

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What This Gene Does
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"Armadillo like helical domain containing|Formins"
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000203485
Associated Conditions (15)
Corticosteroids response
Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Lymphoma
Inborn genetic diseases
Kidney disorder
INF2-related disorder
Melanoma
Nephrotic syndrome
Hepatocellular carcinoma
Charcot-Marie-Tooth disease
Focal segmental glomerulosclerosis
Proteinuria
Renal insufficiency
Hypertensive disorder
Key Variants
RS2140672369
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1001885245
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1032255653
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1035033414
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1064796974
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS115602636
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Lymphoma
Health Risk
RS1156240396
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1208616690
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1249742050
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
Health Risk
RS1249757355
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1279137766
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
Health Risk
RS1356183663
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
Health Risk
All Variants (215)
RSID Category Clinical Significance Conditions
RS753188664 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, INF2-related disorder
RS753263522 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS753327806 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS754546219 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS755527335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS755557218 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS756038490 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS756754311 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS757222949 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS757230162 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS757988412 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS758452999 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS758465730 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS759115381 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS759589756 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS759989953 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS760488958 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS760721935 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS761206810 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS761808106 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS762096939 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS762689516 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS762706488 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS763374096 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS763988639 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS764338863 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS764687744 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS765986755 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS767075044 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS767698763 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS767748953 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS767940514 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS768068589 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS769014945 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS769120676 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS769493931 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS771044828 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS771775245 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS772442590 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS772557416 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS772599038 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS774024906 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS774099930 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS774135330 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS774186716 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS775116734 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS775349897 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS775431460 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS775500020 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS776092624 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, INF2-related disorder
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