"Revvity Omics, Revvity"[submitter] AND "OPHN1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434508	NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)	OPHN1 (H717R)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2434511	NM_002547.3(OPHN1):c.1781G>A (p.Arg594His)	OPHN1 (R594H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 767230	NM_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup)	OPHN1	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2434506	NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)	OPHN1 (T410A)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2434509	NM_002547.3(OPHN1):c.869A>G (p.Gln290Arg)	OPHN1 (Q290R)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2434510	NM_002547.3(OPHN1):c.841G>A (p.Gly281Arg)	OPHN1 (G281R)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 1323384	NM_002547.3(OPHN1):c.384+1G>A	OPHN1	Single nucleotide variant (splice donor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 2434512	NM_002547.3(OPHN1):c.295A>T (p.Asn99Tyr)	OPHN1 (N99Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2434507	NM_002547.3(OPHN1):c.230C>T (p.Thr77Ile)	OPHN1 (T77I)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 872373	NM_002547.3(OPHN1):c.148A>G (p.Met50Val)	OPHN1 (M50V)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +1 more	GUncertain significance