"OMIM"[submitter] AND "INPPL1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39481	NM_001567.4(INPPL1):c.94_121del (p.Glu32fs)	LOC130006328, INPPL1 (E32fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 39478	NM_001567.4(INPPL1):c.278_282del (p.Gln93fs)	INPPL1 (Q93fs)	Deletion (frameshift variant)	Opsismodysplasia	GPathogenic
Select item 39474	NM_001567.4(INPPL1):c.545C>A (p.Ser182Ter)	INPPL1 (S182*)	Single nucleotide variant (nonsense)	Opsismodysplasia	GPathogenic
Select item 39475	NM_001567.4(INPPL1):c.768del (p.Glu258fs)	INPPL1 (E258fs)	Deletion (frameshift variant)	Opsismodysplasia	GPathogenic
Select item 39479	NM_001567.4(INPPL1):c.1201C>T (p.Arg401Trp)	INPPL1 (R401W)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 39477	NM_001567.4(INPPL1):c.1975C>T (p.Pro659Ser)	INPPL1 (P659S)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 39473	NM_001567.4(INPPL1):c.1976C>T (p.Pro659Leu)	INPPL1 (P659L)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 39480	NM_001567.4(INPPL1):c.2164T>A (p.Phe722Ile)	INPPL1 (F722I)	Single nucleotide variant (missense variant)	Opsismodysplasia	GPathogenic
Select item 39476	NM_001567.4(INPPL1):c.2415+1G>A	INPPL1	Single nucleotide variant (splice donor variant)	Opsismodysplasia	GPathogenic

ClinVar