ClinVar for MedGen (Select 336920) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362263	NM_002547.3(OPHN1):c.439C>G (p.Arg147Gly)	OPHN1 (R147G)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 3341356	NM_002547.3(OPHN1):c.761A>G (p.Lys254Arg)	OPHN1 (K254R)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 3338467	GRCh37/hg19 Xq12(chrX:67433703-67454430)x2	OPHN1	Copy number gain	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 3256923	NM_002547.3(OPHN1):c.1420+3_1420+14del	OPHN1	Deletion (splice donor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 2920720	NM_002547.2(OPHN1):c.313_326del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 2585370	NM_002547.3(OPHN1):c.1913T>C (p.Leu638Pro)	OPHN1 (L638P)	Single nucleotide variant (missense 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 2500936	NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)	OPHN1 (I485fs)	Duplication (frameshift variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
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 1878669	NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)	OPHN1 (E361fs)	Insertion (frameshift variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 1878427	NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 1804135	NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)	OPHN1 (I527V)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 1802613	NM_002547.3(OPHN1):c.328G>T (p.Asp110Tyr)	OPHN1 (D110Y)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 1709354	NM_002547.3(OPHN1):c.1733C>T (p.Pro578Leu)	OPHN1 (P578L)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	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 1698727	NM_002547.3(OPHN1):c.702+4A>T	OPHN1	Single nucleotide variant (intron variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 1685999	NM_002547.3(OPHN1):c.597+2T>C	OPHN1	Single nucleotide variant (splice donor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	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 1333887	NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys)	OPHN1 (Y271C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 1333886	NM_002547.3(OPHN1):c.1226G>A (p.Arg409His)	OPHN1 (R409H)	Single nucleotide variant (missense variant)	not provided +1 more	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 1285464	NM_002547.3(OPHN1):c.1526+1G>A	OPHN1	Single nucleotide variant (splice donor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 1251919	NC_000023.11:g.68119248_68212212dup	OPHN1	Duplication	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 1164012	NM_002547.3(OPHN1):c.2159-1G>C	OPHN1	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 1164011	NM_002547.3(OPHN1):c.170T>A (p.Val57Asp)	OPHN1 (V57D)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 1064619	NM_002547.3(OPHN1):c.1202-1G>A	OPHN1	Single nucleotide variant (splice acceptor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 1064589	NM_002547.3(OPHN1):c.702+4A>G	OPHN1	Single nucleotide variant (intron variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
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 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 995998	NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del)	OPHN1	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 995997	NM_002547.3(OPHN1):c.2129C>T (p.Ala710Val)	OPHN1 (A710V)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 992999	NM_002547.3(OPHN1):c.1105-13_1109del	OPHN1	Deletion (splice acceptor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
Select item 976257	NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro)	OPHN1 (L64P)	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
Select item 812190	NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe)	OPHN1 (S448F)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 804020	NM_002547.3(OPHN1):c.1138+1G>A	OPHN1	Single nucleotide variant (splice donor variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
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 663708	NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr)	OPHN1 (M380T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636256	NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)	OPHN1 (R454K)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
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 437439	NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)	OPHN1 (D723G)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 437438	NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)	OPHN1 (I72T)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 421280	NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys)	OPHN1 (R409C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 419263	NM_002547.3(OPHN1):c.155-2A>C	OPHN1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 378314	NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)	OPHN1 (R788W)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 224098	NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)	OPHN1 (D679N)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GLikely pathogenic
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 195589	NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)	OPHN1 (P686S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 159480	NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)	OPHN1 (T301M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 159478	NM_002547.3(OPHN1):c.702+11A>C	OPHN1	Single nucleotide variant (intron variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 159477	NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)	OPHN1 (Q166*)	Single nucleotide variant (nonsense)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 159476	NM_002547.3(OPHN1):c.2159-4C>T	OPHN1	Single nucleotide variant (intron variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GUncertain significance
Select item 159475	NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)	OPHN1 (M693I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 94073	NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)	OPHN1 (A45T)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +3 more	GBenign/Likely benign
Select item 29934	NG_008960.1:g.224486-?_245539+?del	OPHN1	Deletion	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 11581	NM_002547.3(OPHN1):c.644_645del (p.Val215fs)	OPHN1 (V215fs)	Microsatellite (frameshift variant)	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
Select item 11579	NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter)	OPHN1 (Q62*)	Single nucleotide variant (nonsense)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 11578	NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs)	OPHN1 (K251fs)	Duplication (frameshift variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic
Select item 11577	NM_002547.3(OPHN1):c.1579del (p.Ile527fs)	OPHN1 (I527fs)	Deletion (frameshift variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome	GPathogenic

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Items: 71