"Baylor Genetics"[submitter] AND "INPPL1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1027944	NM_001567.4(INPPL1):c.2213-2A>C	INPPL1	Single nucleotide variant (splice acceptor variant)	Opsismodysplasia	GPathogenic/Likely pathogenic
Select item 1032754	NM_001567.4(INPPL1):c.2326+9C>T	INPPL1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1029357	NM_001567.4(INPPL1):c.3549_3550insA (p.Glu1184fs)	INPPL1 (E1184fs)	Insertion (frameshift variant)	Opsismodysplasia	GLikely pathogenic

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