C5779875[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 18

	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
Select item 597792	NM_015166.4(MLC1):c.1111G>A (p.Val371Ile)	MLC1 (V371I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 522910	NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn)	MLC1 (D363N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 547978	NM_015166.4(MLC1):c.1008G>T (p.Gln336His)	MLC1 (Q336H +5 more)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GUncertain significance
Select item 262462	NM_015166.4(MLC1):c.932T>A (p.Val311Glu)	MLC1 (V311E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 792483	NM_015166.4(MLC1):c.882G>A (p.Pro294=)	MLC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 4720	NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)	MLC1	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 857173	NM_015166.4(MLC1):c.353C>T (p.Thr118Met)	MLC1 (T118M +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 1402452	NM_015166.4(MLC1):c.329A>G (p.Asn110Ser)	MLC1 (N110S +2 more)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GUncertain significance
Select item 550431	NM_015166.4(MLC1):c.321+1G>A	MLC1	Single nucleotide variant (splice donor variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +1 more	GLikely pathogenic
Select item 4719	NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)	MLC1 (P92S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4721	NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)	MLC1 (G59E)	Single nucleotide variant (missense variant +2 more)	Megalencephalic leukoencephalopathy with subcortical cysts 1 +2 more	GPathogenic/Likely pathogenic