ZFYVE26 Chromosome 14

Zinc finger FYVE-type containing 26
463 variants 463 Health Risk

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What This Gene Does
This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Zinc fingers FYVE-type
Locus Type
gene with protein product
Location
14q24.1
Ensembl
ENSG00000072121
Associated Conditions (20)
Spastic paraplegia
Hereditary spastic paraplegia 15
Hereditary spastic paraplegia
Inborn genetic diseases
ZFYVE26-related disorder
Tip-toe gait
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Sarcoma
Thyroid cancer
nonmedullary
1
Clear cell carcinoma of kidney
Abnormal central motor function
Lung cancer
Cervical cancer
Intellectual disability
Atypical behavior
Congenital myopathy
Key Variants
RS116890187
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 15, Hereditary spastic paraplegia
Health Risk
RS1317757501
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1355900379
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS138423670
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS138424288
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Inborn genetic diseases, Hereditary spastic paraplegia
Health Risk
RS138543433
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 15, Spastic paraplegia, Hereditary spastic paraplegia 15
Health Risk
RS138895639
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 15, Hereditary spastic paraplegia
Health Risk
RS139163400
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 15, Hereditary spastic paraplegia
Health Risk
RS139364887
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 15, ZFYVE26-related disorder
Health Risk
RS1395832064
Conflicting classifications of pathogenicity
Tip-toe gait, Inborn genetic diseases, Tip-toe gait
Health Risk
RS140117984
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 15, Spastic paraplegia, Hereditary spastic paraplegia 15
Health Risk
RS140128583
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, ZFYVE26-related disorder
Health Risk
All Variants (463)
RSID Category Clinical Significance Conditions
RS2502760250 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15, Spastic paraplegia
RS2503929243 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia, Hereditary spastic paraplegia 15
RS2503979318 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15, Spastic paraplegia
RS370837940 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia, Hereditary spastic paraplegia 15
RS752859634 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia, Hereditary spastic paraplegia 15
RS756042888 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15, Spastic paraplegia
RS760559263 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia, Hereditary spastic paraplegia 15
RS766888372 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15, Spastic paraplegia
RS773333879 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia, Hereditary spastic paraplegia
RS774867891 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15, Spastic paraplegia
RS878855013 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS950356390 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia 15
RS988442865 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia, Spastic paraplegia
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