HGMD (count: 96) (view all) | CD023850; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD993068; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD040316; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD060647; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD050466; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD023851; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD060648; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD011186; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD080891; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD080892; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD060649; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CD023849; Haemophagocytic lymphohistiocytosis, familial; Small deletions
CI040343; Haemophagocytic lymphohistiocytosis, familial; Small insertions
CI012714; Haemophagocytic lymphohistiocytosis, familial; Small insertions
CI057816; Haemophagocytic lymphohistiocytosis, familial; Small insertions
CI064719; Haemophagocytic lymphohistiocytosis, familial; Small insertions
CM021667; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM030945; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM060437; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM023666; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM023667; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040245; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM074981; Perforin deficiency ?; Missense/nonsense
CM010997; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040246; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM992949; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040247; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080508; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040248; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM035020; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM022053; Childhood acute lymphoblastic leukemia, association with; Missense/nonsense
CM012645; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM074979; Perforin deficiency ?; Missense/nonsense
CM071929; Anaplastic large cell lymphoma; Missense/nonsense
CM023668; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080507; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040249; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040250; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080505; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM071927; Anaplastic large cell lymphoma; Missense/nonsense
CM992950; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM044248; Chronic active Epstein-Barr virus infection; Missense/nonsense
CM060438; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM044032; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM010998; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM012646; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM066189; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM012647; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040251; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040252; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM010999; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM992951; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM074980; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM012648; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM021668; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM087193; Multiple sclerosis ; Missense/nonsense
CM060439; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080506; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM992952; Haemophagocytic lymphohistiocytosis, familial ?; Missense/nonsense
CM076443; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM021669; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM044033; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM992953; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080509; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040253; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM087147; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM077961; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM057728; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM040254; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM030946; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM992954; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080510; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM087194; Multiple sclerosis ?; Missense/nonsense
CM040255; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM992955; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM077619; Cytophagic histiocytic panniculitis ?; Missense/nonsense
CM044249; Chronic active Epstein-Barr virus infection; Missense/nonsense
CM071930; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM030947; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM071931; Anaplastic large cell lymphoma; Missense/nonsense
CM080514; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM992956; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM077758; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM030491; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM090174; Haemophagocytic lymphohistiocytosis, familial ?; Missense/nonsense
CM080511; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080504; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM071926; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM080513; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM083041; Diabetes, type 1 ?; Missense/nonsense
CM040256; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM071928; Anaplastic large cell lymphoma; Missense/nonsense
CM023819; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM085652; Haemophagocytic lymphohistiocytosis, familial ?; Missense/nonsense
CM080512; Haemophagocytic lymphohistiocytosis, familial; Missense/nonsense
CM087195; Multiple sclerosis ?; Missense/nonsense
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