Related gene-specific medical variations for Gene (Select 4983) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062562	GRCh37/hg19 Xq12(chrX:67404716-67468068)	OPHN1	Copy number loss	not specified	GPathogenic
Select item 3062529	GRCh37/hg19 Xq12(chrX:67404716-67443299)	OPHN1	Copy number loss	not specified	GPathogenic
Select item 2920720	NM_002547.2(OPHN1):c.313_326del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 2684989	GRCh37/hg19 Xq12(chrX:67134338-67595401)x3	OPHN1	Copy number gain	not provided	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 2444857	NM_002547.3(OPHN1):c.597+1del	OPHN1	Deletion (splice donor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
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
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 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 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 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 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 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 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 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 2429852	NM_002547.3(OPHN1):c.188C>G (p.Thr63Arg)	OPHN1 (T63R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 1807767	GRCh37/hg19 Xq12(chrX:67195772-67607988)x2	OPHN1	Copy number gain	not provided	GUncertain significance
Select item 1700065	NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)	OPHN1 (G529E)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 1526810	GRCh37/hg19 Xq12(chrX:67497166-67594258)	OPHN1	Copy number loss	not specified	GPathogenic
Select item 1342513	NM_002547.3(OPHN1):c.1856C>T (p.Pro619Leu)	OPHN1 (P619L)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 1326263	Single allele	OPHN1	Duplication	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
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 1251919	NC_000023.11:g.68119248_68212212dup	OPHN1	Duplication	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 986801	NM_002547.3(OPHN1):c.1265del (p.Asn422fs)	OPHN1 (N422fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986800	NM_002547.3(OPHN1):c.1410_1419del (p.Ala472fs)	OPHN1 (A472fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 979057	Single allele	OPHN1	Deletion	Congenital cerebellar hypoplasia	GLikely pathogenic
Select item 975457	NM_002547.3(OPHN1):c.1183A>G (p.Asn395Asp)	OPHN1 (N395D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 872372	NM_002547.3(OPHN1):c.916A>C (p.Lys306Gln)	OPHN1 (K306Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443318	GRCh37/hg19 Xq12(chrX:67404055-67716255)x2	OPHN1	Copy number gain	See cases	GUncertain significance
Select item 442541	GRCh37/hg19 Xq12(chrX:66999764-67419971)x2	OPHN1	Copy number gain	See cases	GUncertain significance
Select item 376905	NM_002547.3(OPHN1):c.1814C>T (p.Ser605Phe)	OPHN1 (S605F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 147913	GRCh38/hg38 Xq12(chrX:67956726-68353960)x3	OPHN1	Copy number gain	See cases	GBenign
Select item 146620	GRCh38/hg38 Xq12(chrX:68060610-68353960)x2	OPHN1	Copy number gain	See cases	GPathogenic
Select item 60325	GRCh38/hg38 Xq12(chrX:68274851-68352331)x3	OPHN1	Copy number gain	See cases	GUncertain significance
Select item 29934	NG_008960.1:g.224486-?_245539+?del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 11580	NG_008960.1:g.337629_355297del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic

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Links from Gene

Items: 36