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
RS776501374 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS777010216 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS777096903 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS777455096 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS777498088 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS778879482 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS779017318 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS779751728 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS780428043 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Nephrotic syndrome
RS780642540 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, INF2-related disorder
RS780689756 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS781255309 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS781494318 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS879254306 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS886050383 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E
RS912951002 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS913833582 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS942393807 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Inborn genetic diseases
RS945997134 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Inborn genetic diseases
RS984879135 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1555373368 Health Risk Likely pathogenic —
RS1566777417 Health Risk Likely pathogenic —
RS1566778512 Health Risk Likely pathogenic —
RS1595163730 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS1595163820 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease
RS1595163851 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1889493279 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS2140639518 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS2140647207 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS2140647298 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS2140648131 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2140648522 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS2140670271 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS2504232979 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate E
RS2504233229 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS2504241662 Health Risk Likely pathogenic Kidney disorder, Kidney disorder
RS2504243379 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS2504247119 Health Risk Likely pathogenic INF2-related disorder, INF2-related disorder
RS387907035 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate E, Charcot-Marie-Tooth disease dominant intermediate E
RS866348422 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS912928648 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate E
RS1317776692 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS1555373261 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1555373363 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1555373599 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1566777560 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1566778651 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1566778676 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate E
RS1595163736 Health Risk Pathogenic Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1595164081 Health Risk Pathogenic Charcot-Marie-Tooth disease, Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
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