C5561987[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285621	NM_004897.5(MINPP1):c.75_94del (p.Leu27fs)	MINPP1 (L27fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 1285619	NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp)	MINPP1 (Y53D)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 1285618	NM_004897.5(MINPP1):c.223_224insGGGGG (p.Glu75fs)	LOC130004261, MINPP1 (E75fs)	Insertion (frameshift variant)	Pontocerebellar hypoplasia, type 16	GPathogenic
Select item 1285620	NM_004897.5(MINPP1):c.300del (p.Lys101fs)	MINPP1 (K101fs)	Deletion (frameshift variant)	Pontocerebellar hypoplasia, type 16	GPathogenic
Select item 1285624	NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)	MINPP1 (I331S +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, type 16	GConflicting classifications of pathogenicity
Select item 1285623	NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter)	LOC126860990, MINPP1 (R404* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia, type 16	GLikely pathogenic
Select item 1285622	NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys)	LOC126860990, MINPP1 (E486K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia, type 16	GUncertain significance

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