"Invitae"[submitter] AND "LOC130004439"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 474910	NC_000010.10:g.(?_98399836)_(98405338_?)dup	LOC130004439, PIK3AP1	Duplication	Infantile spasms	GUncertain significance
Select item 541749	NM_152309.3(PIK3AP1):c.1370A>G (p.Asp457Gly)	LOC130004439, PIK3AP1 (D457G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 835370	NM_152309.3(PIK3AP1):c.1342G>C (p.Ala448Pro)	LOC130004439, PIK3AP1 (A448P)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 948391	NM_152309.3(PIK3AP1):c.1339A>G (p.Met447Val)	LOC130004439, PIK3AP1 (M447V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2769257	NM_152309.3(PIK3AP1):c.1325A>T (p.Asp442Val)	LOC130004439, PIK3AP1 (D442V)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 1577891	NM_152309.3(PIK3AP1):c.1320C>T (p.Asp440=)	LOC130004439, PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign
Select item 1429547	NM_152309.3(PIK3AP1):c.1312G>A (p.Gly438Ser)	PIK3AP1, LOC130004439 (G438S)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 2146188	NM_152309.3(PIK3AP1):c.1311C>T (p.Pro437=)	LOC130004439, PIK3AP1	Single nucleotide variant (synonymous variant)	Infantile spasms	GLikely benign

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