C1850451[trait identifier] AND "Human Genome Lab, NIMHANS, National In - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665094	NM_000310.4(PPT1):c.335T>C (p.Met112Thr)	PPT1 (M112T)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 1809613	NM_000310.4(PPT1):c.234+2T>G	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic