C4014343[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 503954	NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)	PGAP1 (R612fs +2 more)	Insertion (frameshift variant)	Intellectual disability, autosomal recessive 42 +2 more	GPathogenic
Select item 705025	NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)	PGAP1 (V374I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GConflicting classifications of pathogenicity
Select item 1032204	NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro)	PGAP1 (S321P +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1028355	NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala)	PGAP1 (T628A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 42	GUncertain significance
Select item 1032203	NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)	PGAP1 (Q381* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 42	GPathogenic
Select item 689776	NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg)	PGAP1 (W183R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 42	GUncertain significance
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

ClinVar