"Genome-Nilou Lab"[submitter] AND "INPP5E"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129270	NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GBenign
Select item 129268	NM_019892.6(INPP5E):c.1521C>T (p.His507=)	INPP5E	Single nucleotide variant (synonymous variant)	Familial aplasia of the vermis +4 more	GBenign
Select item 129266	NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)	INPP5E	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 129265	NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)	INPP5E	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 129277	NM_019892.6(INPP5E):c.972A>G (p.Pro324=)	INPP5E	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 261203	NM_019892.6(INPP5E):c.812+7_812+10del	INPP5E	Microsatellite (intron variant)	Familial aplasia of the vermis +4 more	GBenign

ClinVar