"Ambry Genetics"[submitter] AND "OPHN1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2536254	NM_002547.3(OPHN1):c.2392C>T (p.Pro798Ser)	OPHN1 (P798S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2490885	NM_002547.3(OPHN1):c.2310A>T (p.Glu770Asp)	OPHN1 (E770D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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)	Inborn genetic diseases +1 more	GUncertain significance
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 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)	Inborn genetic diseases +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 94074	NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)	OPHN1 (L677M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2492755	NM_002547.3(OPHN1):c.2008G>A (p.Val670Met)	OPHN1 (V670M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3302324	NM_002547.3(OPHN1):c.1902A>T (p.Gln634His)	OPHN1 (Q634H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1780967	NM_002547.3(OPHN1):c.1831G>A (p.Glu611Lys)	OPHN1 (E611K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 749687	NM_002547.3(OPHN1):c.1800G>T (p.Thr600=)	OPHN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1780127	NM_002547.3(OPHN1):c.1788G>T (p.Leu596=)	OPHN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3204353	NM_002547.3(OPHN1):c.1687-4A>G	OPHN1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 1189927	NM_002547.3(OPHN1):c.1669A>G (p.Ile557Val)	OPHN1 (I557V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2205514	NM_002547.3(OPHN1):c.1570A>G (p.Met524Val)	OPHN1 (M524V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 388844	NM_002547.3(OPHN1):c.1512A>C (p.Ile504=)	OPHN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1280437	NM_002547.3(OPHN1):c.1506T>A (p.Leu502=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2300429	NM_002547.3(OPHN1):c.1490G>A (p.Arg497Gln)	OPHN1 (R497Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1773502	NM_002547.3(OPHN1):c.1479A>G (p.Pro493=)	OPHN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589432	NM_002547.3(OPHN1):c.1443C>A (p.Arg481=)	OPHN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 588443	NM_002547.3(OPHN1):c.1362-2A>G	OPHN1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2078776	NM_002547.3(OPHN1):c.1312A>G (p.Ser438Gly)	OPHN1 (S438G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1297530	NM_002547.3(OPHN1):c.1270T>G (p.Phe424Val)	OPHN1 (F424V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2375053	NM_002547.3(OPHN1):c.1171A>T (p.Arg391Trp)	OPHN1 (R391W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 985609	NM_002547.3(OPHN1):c.1141G>T (p.Glu381Ter)	OPHN1 (E381*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2263879	NM_002547.3(OPHN1):c.934-5A>G	OPHN1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 1756910	NM_002547.3(OPHN1):c.705A>C (p.Thr235=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1746678	NM_002547.3(OPHN1):c.529T>A (p.Ser177Thr)	OPHN1 (S177T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302105	NM_002547.3(OPHN1):c.448C>A (p.His150Asn)	OPHN1 (H150N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789993	NM_002547.3(OPHN1):c.234T>C (p.Asp78=)	OPHN1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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
Select item 138573	NM_002547.3(OPHN1):c.115G>A (p.Val39Ile)	OPHN1 (V39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 3204356	NM_002547.3(OPHN1):c.98A>G (p.Asn33Ser)	OPHN1 (N33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521679	NM_002547.3(OPHN1):c.56G>A (p.Arg19His)	OPHN1 (R19H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 447908	NM_002547.3(OPHN1):c.12C>G (p.Pro4=)	OPHN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 52