ClinVar for MedGen (Select 1826077) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Anophthalmia-microphthalmia syndrome	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 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
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 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 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 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
Select item 1538996	NM_021728.4(OTX2):c.126C>A (p.Thr42=)	OTX2	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1532264	NM_021728.4(OTX2):c.297T>C (p.Ala99=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1514432	NM_021728.4(OTX2):c.443C>T (p.Pro148Leu)	OTX2 (P148L +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1513339	NM_021728.4(OTX2):c.235G>A (p.Val79Met)	OTX2 (V71M +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1482959	NM_021728.4(OTX2):c.440T>C (p.Val147Ala)	OTX2 (V139A +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1482522	NM_021728.4(OTX2):c.602C>A (p.Thr201Asn)	OTX2 (T193N +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1476523	NM_021728.4(OTX2):c.749G>A (p.Gly250Glu)	OTX2 (G250E +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1460253	NC_000014.8:g.(?_57268453)_(57272174_?)del	OTX2	Deletion	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 1456134	NM_021728.4(OTX2):c.546_553del (p.Tyr183fs)	OTX2 (Y183fs +1 more)	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 1446387	NM_021728.4(OTX2):c.74T>C (p.Leu25Pro)	OTX2 (L25P)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1443269	NM_021728.4(OTX2):c.477C>A (p.Ile159=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1438982	NM_021728.4(OTX2):c.203C>G (p.Thr68Ser)	OTX2 (T68S +1 more)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome +1 more	GUncertain significance
Select item 1434497	NM_021728.4(OTX2):c.806A>G (p.Asp269Gly)	OTX2 (D261G +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1432169	NM_021728.4(OTX2):c.65T>C (p.Met22Thr)	OTX2 (M22T)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1430222	NM_021728.4(OTX2):c.444dup (p.Thr149fs)	OTX2 (T141fs +1 more)	Duplication (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 1417039	NM_021728.4(OTX2):c.380G>A (p.Arg127Gln)	OTX2 (R119Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1409764	NM_021728.4(OTX2):c.664G>A (p.Gly222Arg)	OTX2 (G214R +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1403565	NM_021728.4(OTX2):c.778T>G (p.Ser260Ala)	OTX2 (S252A +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1402314	NM_021728.4(OTX2):c.38A>G (p.Asn13Ser)	OTX2 (N13S)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1396530	NM_021728.4(OTX2):c.451G>T (p.Ala151Ser)	OTX2 (A143S +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1388740	NM_021728.4(OTX2):c.385G>A (p.Val129Met)	OTX2 (V129M +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1380157	NM_021728.4(OTX2):c.601A>T (p.Thr201Ser)	OTX2 (T193S +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1353746	NM_021728.4(OTX2):c.871T>A (p.Ser291Thr)	OTX2 (S283T +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1348323	NM_021728.4(OTX2):c.286A>T (p.Asn96Tyr)	OTX2 (N96Y +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1312197	NM_021728.4(OTX2):c.150G>A (p.Arg50=)	OTX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1303148	NM_021728.4(OTX2):c.421C>A (p.Pro141Thr)	OTX2 (P133T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1148760	NM_021728.4(OTX2):c.867A>T (p.Thr289=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1141498	NM_021728.4(OTX2):c.579T>C (p.Tyr193=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1140630	NM_021728.4(OTX2):c.426C>T (p.Pro142=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1139710	NM_021728.4(OTX2):c.483C>T (p.Ser161=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1139401	NM_021728.4(OTX2):c.543G>A (p.Arg181=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1123421	NM_021728.4(OTX2):c.274-4C>T	OTX2	Single nucleotide variant (intron variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1111476	NM_021728.4(OTX2):c.757G>A (p.Ala253Thr)	OTX2 (A245T +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1111295	NM_021728.4(OTX2):c.873G>C (p.Ser291=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign

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