C3151356[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 393149	NM_152722.5(HEPACAM):c.1198G>A (p.Val400Met)	HEPACAM (V400M)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +4 more	GUncertain significance
Select item 1582595	NM_152722.5(HEPACAM):c.1062C>T (p.Pro354=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +3 more	GLikely benign
Select item 435410	NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile)	HEPACAM (T205I)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1510664	NM_152722.5(HEPACAM):c.484G>A (p.Glu162Lys)	HEPACAM (E162K)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +3 more	GUncertain significance
Select item 303335	NM_152722.5(HEPACAM):c.258G>A (p.Glu86=)	HEPACAM	Single nucleotide variant (synonymous variant)	Megalencephalic leukoencephalopathy with subcortical cysts +4 more	GBenign/Likely benign
Select item 1187211	NM_152722.5(HEPACAM):c.217C>T (p.Arg73Trp)	HEPACAM (R73W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1367723	NM_152722.5(HEPACAM):c.96G>C (p.Glu32Asp)	HEPACAM (E32D)	Single nucleotide variant (missense variant)	Megalencephalic leukoencephalopathy with subcortical cysts 2A +3 more	GUncertain significance

ClinVar