C1845366[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029461	NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)	OPHN1 (P630H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2441799	NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)	OPHN1 (A572P)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 620153	NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)	OPHN1 (R497*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1029460	NM_002547.3(OPHN1):c.1201+3A>G	OPHN1	Single nucleotide variant (intron variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2582534	NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)	OPHN1 (W278S)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2441882	NM_002547.3(OPHN1):c.598-1G>C	OPHN1	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic

ClinVar