"SIB Swiss Institute of Bioinformatics"[submitter] AND "LOC126860990"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526394	NM_004897.5(MINPP1):c.1202G>A (p.Arg401Gln)	LOC126860990, MINPP1 (R200Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pontocerebellar hypoplasia, type 16	GUncertain significance
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