"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065104	NM_001371596.2(MFSD8):c.1348C>T (p.Gln450Ter)	MFSD8 (Q300* +8 more)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 7	GLikely pathogenic
Select item 1005	NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)	MFSD8 (P412L +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GPathogenic/Likely pathogenic
Select item 3068056	NM_001371596.2(MFSD8):c.913G>A (p.Ala305Thr)	MFSD8 (A155T +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 504888	NM_001371596.2(MFSD8):c.863+1G>A	MFSD8	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 7 +3 more	GPathogenic
Select item 1339217	NM_001371596.2(MFSD8):c.198+2T>C	MFSD8	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 7	GPathogenic/Likely pathogenic
Select item 846459	NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)	MFSD8 (R35*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 7 +1 more	GPathogenic

ClinVar