- Blood Group AB (CMAH gene) Abyssinian, All breeds, American Bobtail, American Curl, American Shorthair, American Wirehair, Asian… (plus)
- Brachyuria (c.998, c.1169, c.1199) (gene T) Highland Lynx, Manx, Pixie-bob
- Burmese Head Defect (ALX1 gene) American Shorthair, Bombay, Burmese
- Cerebral dysgenesis (PEA15 gene) Domestic Cat
- Chondrodysplasia (UGDH gene) Munchkin
- Congenital Erythropoietic Porphyria (UROS gene) American Curl, Cornish Rex, Domestic Cat, Donskoy, Exotic Shorthair, Kurilean Bobtail, Maine Coon… (plus)
- Congenital Myasthenic Syndrome (CMS) (COLQ gene) Devon Rex, Elf, Sphynx
- Cystinuria Type B variant 3 (SLC7A9 gene) Maine Coon, Siamese, Siberian, Sphynx
- Deafness (associated with Dominant White) (W Locus) (KIT gene) American Bobtail, American Curl, American Shorthair, American Wirehair, British Longhair, British Shorthair, Cornish Rex… (plus)
- Deficiency in Factor XII (F12 gene) Balinese, Bengal, Bombay, British Shorthair, Domestic Shorthair, Highland Lynx, Himalayan… (plus)
- Episodic Hypokalemic Polymyopathy (WNK4 gene) Burmese
- Fibrodysplasia ossificans (ACVR1 gene) Domestic Cat, Himalayan, Maine Coon, Savannah
- Glycogen Storage Disease Type IV (Norwegian Forest Cat) (GBE1 gene) Norwegian Forest Cat
- Glycogen storage disease, type II (GAA gene) Domestic Cat, Japanese Domestic
- GM1 Gangliosidose (Siamese type) (GLB1 gene) Asian, Burmese, Domestic Shorthair, Highland Lynx, Korat, Oriental Shorthair, Peterbald… (plus)
- GM2 Gangliosidosis (Sandhoff disease) (HEXB gene) Asian, Burmese, Burmilla, Domestic Cat, Domestic Shorthair, Korat
- Hyperoxaluria Type II (GRHPR gene) Burmese, Himalayan, Persian
- Hypersensitivity to medication (MDR1) (ABCB1 (MDR1) gene) Balinese, Domestic Cat, Maine Coon, Ragdoll, Russian Blue, Siamese, Turkish Angora
- Hypertrophic Cardiomyopathy (Domestic cat type) (MYH7 gene) Domestic Cat
- Hypertrophic Cardiomyopathy (Maine Coon, Ragamuffin types) (MYBPC3 gene) American Bobtail, Domestic Cat, Highland Lynx, Maine Coon, Munchkin, Pixie-bob, Ragamuffin… (plus)
- Hypertrophic Cardiomyopathy (Sphynx type) (ALMS1 gene) American Shorthair, Exotic Shorthair, Munchkin, Scottish Fold, Sphynx
- Lipoprotein Lipase Deficiency (LPL gene) Domestic Cat
- Mannosidosis, alpha (LAMAN gene) Domestic Longhair, Domestic Shorthair, Persian
- Methemoglobinemia, hereditary (CYB5R3 gene) Domestic Cat
- Mucopolysaccharidosis VI (MPS VI) (ARSB gene) Abyssinian, American Curl, Balinese, Bengal, Birman, Chausie, Colorpoint Shorthair… (plus)
- Muscular dystrophy, Beckers type (DMD gene) Domestic Cat, Japanese Domestic, Maine Coon
- Myotonia congenita (CLCN1 gene) Domestic Cat, Domestic Longhair, Domestic Shorthair
- Oculocutanious albinism (HPS5 gene) Donskoy
- Osteochondrodysplasia (Scottish Fold) (TRPV4 gene) Domestic Cat, Scottish Fold
- Polycystic Kidney Disease1 (PKD1) (PKD1 gene) American Shorthair, Exotic Shorthair, Maine Coon, Munchkin, Persian, Ragdoll, Scottish Fold… (plus)
- Polydactyly (SHH, LMBR1 genes) Domestic Shorthair, Highland Lynx, Maine Coon, Pixie-bob
- Pyruvate Kinase Deficiency (PKLR) (PKLR gene) Abyssinian, American Bobtail, Bengal, Domestic Cat, Domestic Longhair, Domestic Shorthair, Egyptian Mau… (plus)
- Retinal atrophy, progressive (Bengal, PRA-b) (KIF3B gene) Bengal, Savannah
- Retinal atrophy, progressive (Early-onset blindness, PRA-Rdy) (CRX gene) Abyssinian, Somali
- Retinal atrophy, progressive (Late-onset blindness, PRA-rdAc) (CEP290 gene) Abyssinian, American Shorthair, Balinese, Cornish Rex, Devon Rex, Domestic Cat, Donskoy… (plus)
- Retinopathy (RDH5 gene) Domestic Cat
- Skeletal dysplasia (LTBP3 gene) British Shorthair
- Spinal Muscular Atrophy (LIX1 gene) Highland Lynx, Maine Coon
- Spongy encephalopathy (ASPA gene) Domestic Cat
- Wilson Disease (ATP7B gene) Domestic Cat