ClinVar Miner

List of variants reported as likely pathogenic for pancytopenia

Included ClinVar conditions (6):

Anemia; Pancytopenia; Bone marrow hypocellularity
Autism; Epicanthus; Fetal growth restriction; Failure to thrive in infancy; Pancytopenia; Triangular face; High forehead; Small for gestational age; Macrocytic anemia; Attention deficit hyperactivity disorder
Pancytopenia
Pancytopenia; Arthritis; Abnormal autonomic nervous system physiology; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia
Pancytopenia; Bone marrow hypocellularity
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001035006.5(RPL17):c.452del (p.Thr151fs)
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter)	rs1569078784
NM_020207.7:c.[3409_3410delAT];[3763C>T]

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