"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OPHN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225074	NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)	OPHN1 (R788Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +2 more	GUncertain significance
Select item 378314	NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)	OPHN1 (R788W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 159475	NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)	OPHN1 (M693I)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +3 more	GBenign/Likely benign
Select item 195589	NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)	OPHN1 (P686S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 211791	NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)	OPHN1 (D538G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 94073	NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)	OPHN1 (A45T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign

ClinVar