INF2 Chromosome 14

Inverted formin 2
215 variants 1 Drug Response 214 Health Risk

Upload your DNA to see your personal genotypes for variants in INF2.

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
RS370169829 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS370364755 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS370719592 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS372269719 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS372333024 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS373383463 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Kidney disorder
RS373532334 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS374424323 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS374535109 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS374769850 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS375390523 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS375622503 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS376067427 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS376094545 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS376222605 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS377145979 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS377281840 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS377340315 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS377414980 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS387907034 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS528063130 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS529349803 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS530285485 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS533208785 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS539256832 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS542700662 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS549518317 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Inborn genetic diseases, Focal segmental glomerulosclerosis 5
RS551015347 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS557462297 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS557741807 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS567356266 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS571301599 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS571986941 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS572969666 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS573567814 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS746493706 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS746572452 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS746697423 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS747569209 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS747903915 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS748286029 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS748373029 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS749197190 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS749405096 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS749543418 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS749868411 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS751772396 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS752058170 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS752180110 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS752971046 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
« Prev 1 2 3 4 5 Next »
Sign Up to Analyze Your DNA Log In