"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PGAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167175	NM_024989.4(PGAP1):c.1273-17dup	PGAP1	Duplication (intron variant)	Intellectual disability, autosomal recessive 42 +1 more	GBenign
Select item 1168581	NM_024989.4(PGAP1):c.860+12C>A	PGAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 436297	NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)	PGAP1 (K111E)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 42 +3 more	GUncertain significance

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