ClinVar for Gene (Select 5015) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353907	NM_021728.4(OTX2):c.556A>G (p.Thr186Ala)	OTX2 (T178A +1 more)	Single nucleotide variant (missense variant +1 more)	OTX2-related disorder	GUncertain significance
Select item 3350373	NM_021728.4(OTX2):c.100C>T (p.Pro34Ser)	OTX2 (P34S)	Single nucleotide variant (missense variant +1 more)	OTX2-related disorder	GUncertain significance
Select item 3339066	NM_021728.4(OTX2):c.273+18A>T	OTX2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3239363	NM_021728.4(OTX2):c.273G>C (p.Gln91His)	OTX2 (Q83H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3207455	NM_021728.4(OTX2):c.401G>C (p.Gly134Ala)	OTX2 (G126A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3207454	NM_021728.4(OTX2):c.22C>A (p.Pro8Thr)	OTX2 (P8T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063329	GRCh37/hg19 14q22.3(chr14:56232969-57784632)x3	AP5M1, EXOC5 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062100	NM_021728.4(OTX2):c.150G>C (p.Arg50Ser)	OTX2 (R42S +1 more)	Single nucleotide variant (missense variant)	Syndromic microphthalmia type 5	GLikely pathogenic
Select item 3061159	NM_021728.4(OTX2):c.165_168del (p.Ala56fs)	OTX2 (A48fs +1 more)	Deletion (frameshift variant)	OTX2-related disorder	GPathogenic
Select item 3036051	NM_021728.4(OTX2):c.117C>G (p.Pro39=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	OTX2-related disorder	GLikely benign
Select item 2969060	NM_021728.4(OTX2):c.43C>T (p.Leu15=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2898333	NM_021728.4(OTX2):c.207G>A (p.Arg69=)	OTX2	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2889281	NM_021728.4(OTX2):c.377C>T (p.Ala126Val)	OTX2 (A118V +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2888998	NM_021728.4(OTX2):c.305G>A (p.Arg102His)	OTX2 (R102H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2886050	NM_021728.4(OTX2):c.453C>T (p.Ala151=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2873289	NM_021728.4(OTX2):c.127C>A (p.Pro43Thr)	OTX2 (P35T +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2855655	NM_021728.4(OTX2):c.211C>T (p.Pro71Ser)	OTX2 (P71S +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2838027	NM_021728.4(OTX2):c.273+10A>T	OTX2	Single nucleotide variant (intron variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2834678	NM_021728.4(OTX2):c.516del (p.Leu172fs)	OTX2 (L164fs +1 more)	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2833988	NM_021728.4(OTX2):c.363del (p.Lys122fs)	OTX2 (K114fs +1 more)	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2812075	NM_021728.4(OTX2):c.655C>T (p.Gln219Ter)	OTX2 (Q219* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2809958	NM_021728.4(OTX2):c.190C>A (p.Leu64Met)	OTX2 (L64M +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2802863	NM_021728.4(OTX2):c.225G>A (p.Met75Ile)	OTX2 (M75I +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2765612	NM_021728.4(OTX2):c.257C>T (p.Pro86Leu)	OTX2 (P86L +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2764676	NM_021728.4(OTX2):c.283A>G (p.Lys95Glu)	OTX2 (K95E +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2737443	NM_021728.4(OTX2):c.648G>A (p.Met216Ile)	OTX2 (M216I +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2734269	NM_021728.4(OTX2):c.270G>A (p.Val90=)	OTX2	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2715346	NM_021728.4(OTX2):c.190_191del (p.Leu64fs)	OTX2 (L56fs +1 more)	Deletion (frameshift variant)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2707403	NM_021728.4(OTX2):c.408T>A (p.Ser136Arg)	OTX2 (S136R +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2702631	NM_021728.4(OTX2):c.843C>A (p.Asp281Glu)	OTX2 (D273E +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2699298	NM_021728.4(OTX2):c.701C>T (p.Ala234Val)	OTX2 (A226V +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2689645	NM_021728.4(OTX2):c.305_313del (p.Arg102_Gln104del)	OTX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644256	NM_021728.4(OTX2):c.459C>A (p.Ser153Arg)	OTX2 (S145R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633417	NM_021728.4(OTX2):c.130_131dup (p.Lys45fs)	OTX2 (K37fs +1 more)	Duplication (frameshift variant)	OTX2-related disorder	GLikely pathogenic
Select item 2628344	NM_021728.4(OTX2):c.471_474dup (p.Ile159fs)	OTX2 (I151fs +1 more)	Duplication (frameshift variant +1 more)	OTX2-related disorder	GPathogenic
Select item 2584532	NM_021728.4(OTX2):c.497_503dup (p.Ser169fs)	OTX2 (S161fs +1 more)	Duplication (frameshift variant +1 more)	OTX2-related disorder	GLikely pathogenic
Select item 2580560	NM_021728.4(OTX2):c.553A>G (p.Met185Val)	OTX2 (M177V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576151	NM_021728.4(OTX2):c.145G>A (p.Glu49Lys)	OTX2 (E41K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575820	NM_021728.4(OTX2):c.94C>A (p.Pro32Thr)	OTX2 (P32T)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +1 more	GUncertain significance
Select item 2544050	NM_021728.4(OTX2):c.715C>T (p.Leu239Phe)	OTX2 (L239F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504301	NM_021728.4(OTX2):c.227G>C (p.Arg76Pro)	OTX2 (R68P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488971	NM_021728.4(OTX2):c.466C>A (p.Pro156Thr)	OTX2 (P148T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2444436	NM_021728.4(OTX2):c.591T>G (p.Tyr197Ter)	OTX2 (Y189* +1 more)	Single nucleotide variant (nonsense +1 more)	Syndromic microphthalmia type 5	GPathogenic
Select item 2427493	NC_000014.8:g.(?_57270959)_(57274875_?)del	OTX2	Deletion	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2427492	NC_000014.8:g.(?_57268453)_(57272174_?)dup	OTX2	Duplication	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2412735	NM_021728.4(OTX2):c.677_678insTGTG (p.Leu227fs)	OTX2 (L219fs +1 more)	Insertion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GUncertain significance
Select item 2317688	NM_021728.4(OTX2):c.445A>C (p.Thr149Pro)	OTX2 (T141P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276895	NM_021728.4(OTX2):c.424C>G (p.Pro142Ala)	OTX2 (P142A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2168996	NM_021728.4(OTX2):c.728C>T (p.Pro243Leu)	OTX2 (P235L +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2165730	NM_021728.4(OTX2):c.561T>C (p.Tyr187=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2162154	NM_021728.4(OTX2):c.599C>T (p.Ser200Leu)	OTX2 (S200L +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2149193	NM_021728.4(OTX2):c.441C>G (p.Val147=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2141722	NM_021728.4(OTX2):c.458G>A (p.Ser153Asn)	OTX2 (S153N +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2124422	NM_021728.4(OTX2):c.316C>T (p.Gln106Ter)	OTX2 (Q106* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2123244	NM_021728.4(OTX2):c.142C>T (p.Arg48Trp)	OTX2 (R40W +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2118087	NM_021728.4(OTX2):c.125C>A (p.Thr42Asn)	OTX2 (T34N +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2116434	NM_021728.4(OTX2):c.602C>T (p.Thr201Ile)	OTX2 (T193I +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2116260	NM_021728.4(OTX2):c.617G>T (p.Gly206Val)	OTX2 (G206V +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2115772	NM_021728.4(OTX2):c.192G>C (p.Leu64=)	OTX2	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 2113335	NM_021728.4(OTX2):c.707C>T (p.Thr236Ile)	OTX2 (T236I +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2112894	NM_021728.4(OTX2):c.565C>T (p.Gln189Ter)	OTX2 (Q181* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2106827	NM_021728.4(OTX2):c.150del (p.Thr51fs)	OTX2 (T43fs +1 more)	Deletion (frameshift variant)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2017904	NM_021728.4(OTX2):c.479G>A (p.Trp160Ter)	OTX2 (W160* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2017389	NM_021728.4(OTX2):c.721C>T (p.Gln241Ter)	OTX2 (Q233* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 2010540	NM_021728.4(OTX2):c.217A>T (p.Ile73Phe)	OTX2 (I73F +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2009336	NM_021728.4(OTX2):c.388A>T (p.Ser130Cys)	OTX2 (S122C +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2001500	NM_021728.4(OTX2):c.171G>C (p.Gln57His)	OTX2 (Q57H +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1995673	NM_021728.4(OTX2):c.640A>G (p.Thr214Ala)	OTX2 (T206A +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1993394	NM_021728.4(OTX2):c.666A>G (p.Gly222=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1979987	NM_021728.4(OTX2):c.90C>A (p.Gly30=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1974826	NM_021728.4(OTX2):c.782C>T (p.Thr261Ile)	OTX2 (T253I +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1937570	NM_021728.4(OTX2):c.758C>G (p.Ala253Gly)	OTX2 (A253G +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1922389	NM_021728.4(OTX2):c.661C>T (p.Pro221Ser)	OTX2 (P213S +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1920819	NM_021728.4(OTX2):c.392C>T (p.Ser131Leu)	OTX2 (S123L +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1913972	NM_021728.4(OTX2):c.167C>A (p.Ala56Glu)	OTX2 (A48E +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1721608	NM_021728.4(OTX2):c.461G>C (p.Ser154Thr)	OTX2 (S146T +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1714515	NM_021728.4(OTX2):c.155C>G (p.Thr52Arg)	OTX2 (T44R +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1710645	NM_021728.4(OTX2):c.236T>A (p.Val79Glu)	OTX2 (V71E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710331	NM_021728.4(OTX2):c.588_591dup (p.Ala198fs)	OTX2 (A190fs +1 more)	Microsatellite (frameshift variant +1 more)	Anophthalmia	GPathogenic
Select item 1710330	NM_021728.4(OTX2):c.549T>G (p.Tyr183Ter)	OTX2 (Y175* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1700994	NM_021728.4(OTX2):c.277T>A (p.Trp93Arg)	OTX2 (W85R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1696963	NM_021728.4(OTX2):c.94C>G (p.Pro32Ala)	OTX2 (P32A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1693280	NM_021728.4(OTX2):c.421C>T (p.Pro141Ser)	OTX2 (P133S +1 more)	Single nucleotide variant (missense variant +1 more)	OTX2-Related Syndromic Microphthalmia	GUncertain significance
Select item 1687464	NM_021728.4(OTX2):c.278G>C (p.Trp93Ser)	OTX2 (W85S +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic microphthalmia type 5	GUncertain significance
Select item 1684979	NM_021728.4(OTX2):c.424C>A (p.Pro142Thr)	OTX2 (P134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1672142	NM_021728.4(OTX2):c.597C>G (p.Gly199=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1661334	NM_021728.4(OTX2):c.75G>A (p.Leu25=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1657907	NM_021728.4(OTX2):c.426C>A (p.Pro142=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1628664	NM_021728.4(OTX2):c.423C>A (p.Pro141=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1626309	NM_021728.4(OTX2):c.81C>T (p.Pro27=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1624014	NM_021728.4(OTX2):c.192G>A (p.Leu64=)	OTX2	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1582038	NM_021728.4(OTX2):c.97+20C>T	OTX2	Single nucleotide variant (intron variant)	Anophthalmia-microphthalmia syndrome	GBenign
Select item 1581949	NM_021728.4(OTX2):c.226C>A (p.Arg76=)	OTX2	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1574465	NM_021728.4(OTX2):c.804G>A (p.Lys268=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1562137	NM_021728.4(OTX2):c.744C>A (p.Thr248=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1553624	NM_021728.4(OTX2):c.411C>T (p.Gly137=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1549472	NM_021728.4(OTX2):c.372T>C (p.Ser124=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign

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