ClinVar Miner

List of variants in gene HEPACAM reported as likely pathogenic for leukoencephalopathy, megalencephalic

Included ClinVar conditions (8):

Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 1
Megalencephalic leukoencephalopathy with subcortical cysts 1; Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 3
Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)	rs387907053
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)	rs387907050
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys)	rs1565339091
NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser)	rs1555055028
NM_152722.5(HEPACAM):c.949-2A>G

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