OPHN1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147913	GRCh38/hg38 Xq12(chrX:67956726-68353960)x3	OPHN1	Copy number gain	See cases	GBenign
Select item 1295364	NM_002547.3(OPHN1):c.*8+241A>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575686	NM_002547.3(OPHN1):c.2401G>T (p.Glu801Ter)	OPHN1 (E801*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2536254	NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)	OPHN1 (P798S)	Single nucleotide variant (missense variant)	OPHN1-related disorder +1 more	GUncertain significance
Select item 2727917	NM_002547.3(OPHN1):c.2388A>T (p.Arg796Ser)	OPHN1 (R796S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014000	NM_002547.3(OPHN1):c.2385C>A (p.Gly795=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310147	NM_002547.3(OPHN1):c.2380C>T (p.Gln794Ter)	OPHN1 (Q794*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2043076	NM_002547.3(OPHN1):c.2376-19C>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674158	NM_002547.3(OPHN1):c.2376-77G>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260443	NM_002547.3(OPHN1):c.2375+235_2375+236dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 1243835	NM_002547.3(OPHN1):c.2375+235dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 3016922	NM_002547.3(OPHN1):c.2375+9T>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016923	NM_002547.3(OPHN1):c.2375+7T>G	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2057212	NM_002547.3(OPHN1):c.2375+7T>C	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely 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 378314	NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)	OPHN1 (R788W)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cerebellar hypoplasia syndrome +3 more	GBenign/Likely benign
Select item 791670	NM_002547.3(OPHN1):c.2325-4G>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770842	NM_002547.3(OPHN1):c.2325-8G>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724726	NM_002547.3(OPHN1):c.2325-19G>T	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169148	NM_002547.3(OPHN1):c.2324+20A>C	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 195675	NM_002547.3(OPHN1):c.2324+10G>T	OPHN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1485068	NM_002547.3(OPHN1):c.2320T>C (p.Ser774Pro)	OPHN1 (S774P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995148	NM_002547.3(OPHN1):c.2316A>G (p.Thr772=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1978422	NM_002547.3(OPHN1):c.2315C>T (p.Thr772Ile)	OPHN1 (T772I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490885	NM_002547.3(OPHN1):c.2310A>T (p.Glu770Asp)	OPHN1 (E770D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 195674	NM_002547.3(OPHN1):c.2307G>A (p.Gly769=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 507024	NM_002547.3(OPHN1):c.2303C>T (p.Ala768Val)	OPHN1 (A768V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1305855	NM_002547.3(OPHN1):c.2288T>C (p.Ile763Thr)	OPHN1 (I763T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730879	NM_002547.3(OPHN1):c.2275C>G (p.Pro759Ala)	OPHN1 (P759A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957587	NM_002547.3(OPHN1):c.2265A>G (p.Gln755=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805100	NM_002547.3(OPHN1):c.2249G>A (p.Arg750Gln)	OPHN1 (R750Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856340	NM_002547.3(OPHN1):c.2248C>T (p.Arg750Trp)	OPHN1 (R750W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1215049	NM_002547.3(OPHN1):c.2231C>T (p.Pro744Leu)	OPHN1 (P744L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001466	NM_002547.3(OPHN1):c.2224G>T (p.Val742Leu)	OPHN1 (V742L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991431	NM_002547.3(OPHN1):c.2220C>G (p.Pro740=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660778	NM_002547.3(OPHN1):c.2217C>A (p.Arg739=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419278	NM_002547.3(OPHN1):c.2216G>A (p.Arg739His)	OPHN1 (R739H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818621	NM_002547.3(OPHN1):c.2215C>T (p.Arg739Cys)	OPHN1 (R739C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3041301	NM_002547.3(OPHN1):c.2189C>T (p.Pro730Leu)	OPHN1 (P730L)	Single nucleotide variant (missense variant)	OPHN1-related disorder	GUncertain significance
Select item 1432076	NM_002547.3(OPHN1):c.2186G>A (p.Arg729Gln)	OPHN1 (R729Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2372004	NM_002547.3(OPHN1):c.2185C>T (p.Arg729Trp)	OPHN1 (R729W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 524115	NM_002547.2(OPHN1):c.2159_2171delGGGATGCTGACAG	OPHN1	Deletion	not provided	GPathogenic
Select item 586202	NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly)	OPHN1 (S724G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2864064	NM_002547.3(OPHN1):c.2169C>G (p.Asp723Glu)	OPHN1 (D723E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 437439	NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)	OPHN1 (D723G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2738326	NM_002547.3(OPHN1):c.2162A>T (p.Asp721Val)	OPHN1 (D721V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1295366	NM_002547.3(OPHN1):c.2159-153_2159-152dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 1295359	NM_002547.3(OPHN1):c.2159-153dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 1225005	NM_002547.3(OPHN1):c.2159-153_2159-151dup	OPHN1	Duplication (intron variant)	not provided	GBenign
Select item 146620	GRCh38/hg38 Xq12(chrX:68060610-68353960)x2	OPHN1	Copy number gain	See cases	GPathogenic
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 1311470	NM_002547.3(OPHN1):c.2149C>T (p.His717Tyr)	OPHN1 (H717Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1786629	NM_002547.3(OPHN1):c.2144C>T (p.Ala715Val)	OPHN1 (A715V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1203077	NM_002547.3(OPHN1):c.2135G>A (p.Arg712Gln)	OPHN1 (R712Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2355359	NM_002547.3(OPHN1):c.2134C>T (p.Arg712Trp)	OPHN1 (R712W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1203848	NM_002547.3(OPHN1):c.2132C>T (p.Pro711Leu)	OPHN1 (P711L)	Single nucleotide variant (missense variant)	not provided	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 3204354	NM_002547.3(OPHN1):c.2110_2111del (p.Phe704fs)	OPHN1 (F704fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2294028	NM_002547.3(OPHN1):c.2105C>A (p.Pro702His)	OPHN1 (P702H)	Single nucleotide variant (missense variant)	OPHN1-related disorder +1 more	GUncertain significance
Select item 2069989	NM_002547.3(OPHN1):c.2102C>T (p.Thr701Ile)	OPHN1 (T701I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756991	NM_002547.3(OPHN1):c.2098A>G (p.Lys700Glu)	OPHN1 (K700E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161502	NM_002547.3(OPHN1):c.2093CCA[1] (p.Thr699del)	OPHN1 (T699del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2724487	NM_002547.3(OPHN1):c.2090G>T (p.Gly697Val)	OPHN1 (G697V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 159475	NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)	OPHN1 (M693I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 744258	NM_002547.3(OPHN1):c.2076C>G (p.Pro692=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 498128	NM_002547.3(OPHN1):c.2075C>A (p.Pro692His)	OPHN1 (P692H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660779	NM_002547.3(OPHN1):c.2073A>G (p.Gly691=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 589314	NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser)	OPHN1 (A688S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 195589	NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)	OPHN1 (P686S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 521293	NM_002547.3(OPHN1):c.2049G>C (p.Lys683Asn)	OPHN1 (K683N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710410	NM_002547.3(OPHN1):c.2037T>G (p.Asp679Glu)	OPHN1 (D679E)	Single nucleotide variant (missense variant)	not provided	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 94074	NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)	OPHN1 (L677M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1784626	NM_002547.3(OPHN1):c.2024C>T (p.Ser675Phe)	OPHN1 (S675F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540650	NM_002547.3(OPHN1):c.2019G>C (p.Leu673Phe)	OPHN1 (L673F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305308	NM_002547.3(OPHN1):c.2016G>T (p.Lys672Asn)	OPHN1 (K672N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492755	NM_002547.3(OPHN1):c.2008G>A (p.Val670Met)	OPHN1 (V670M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2150558	NM_002547.3(OPHN1):c.2007C>T (p.Asp669=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2898747	NM_002547.3(OPHN1):c.2003T>C (p.Val668Ala)	OPHN1 (V668A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927718	NM_002547.3(OPHN1):c.1978G>C (p.Gly660Arg)	OPHN1 (G660R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722839	NM_002547.3(OPHN1):c.1962C>A (p.Ser654Arg)	OPHN1 (S654R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073676	NM_002547.3(OPHN1):c.1957C>A (p.Pro653Thr)	OPHN1 (P653T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980237	NM_002547.3(OPHN1):c.1955C>T (p.Ser652Phe)	OPHN1 (S652F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 436109	NM_002547.3(OPHN1):c.1946G>A (p.Gly649Glu)	OPHN1 (G649E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700438	NM_002547.3(OPHN1):c.1929T>G (p.Ser643Arg)	OPHN1 (S643R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2158460	NM_002547.3(OPHN1):c.1913T>G (p.Leu638Arg)	OPHN1 (L638R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195590	NM_002547.3(OPHN1):c.1903C>A (p.His635Asn)	OPHN1 (H635N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3302324	NM_002547.3(OPHN1):c.1902A>T (p.Gln634His)	OPHN1 (Q634H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2896622	NM_002547.3(OPHN1):c.1894C>T (p.Pro632Ser)	OPHN1 (P632S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728350	NM_002547.3(OPHN1):c.1890C>G (p.Pro630=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1309983	NM_002547.3(OPHN1):c.1867A>G (p.Ile623Val)	OPHN1 (I623V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3233647	NM_002547.3(OPHN1):c.1848T>C (p.His616=)	OPHN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 447909	NM_002547.3(OPHN1):c.1839A>G (p.Glu613=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1235950	NM_002547.3(OPHN1):c.1835-94C>A	OPHN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202195	NM_002547.3(OPHN1):c.1834+187T>C	OPHN1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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