"Genome-Nilou Lab"[submitter] AND "PPT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138793	NM_000310.4(PPT1):c.*3C>A	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1180456	NM_000310.4(PPT1):c.627+105A>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1 +2 more	GBenign
Select item 1180457	NM_000310.4(PPT1):c.537-50G>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GBenign
Select item 673207	NM_000310.4(PPT1):c.434-90G>C	PPT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1180458	NM_000310.4(PPT1):c.433+79A>G	PPT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 130022	NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)	PPT1 (I134T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 670733	NM_000310.4(PPT1):c.362+61C>T	PPT1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1180459	NM_000310.4(PPT1):c.125-77G>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GBenign
Select item 297250	NM_000310.3(PPT1):c.-83A>G	PPT1	Single nucleotide variant	Neuronal ceroid lipofuscinosis 1 +2 more	GBenign

ClinVar