C1850451[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1726107	NM_000310.4(PPT1):c.680_684del (p.Met227fs)	PPT1 (M124fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 1725859	NM_000310.4(PPT1):c.665_666del (p.Leu222fs)	PPT1 (L119fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 1724658	NM_000310.4(PPT1):c.653del (p.Asn218fs)	PPT1 (N115fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 8904	NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	PPT1 (R151* +1 more)	Single nucleotide variant (nonsense)	Neuronal Ceroid-Lipofuscinosis, Recessive +5 more	GPathogenic/Likely pathogenic
Select item 8899	NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	PPT1 (R122W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 8900	NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)	PPT1 (T75P)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GPathogenic

ClinVar