5015[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 150516	GRCh38/hg38 14q22.3(chr14:56345200-56917270)x3	LINC02284, LOC101927690 +13 more	Copy number gain	See cases	GLikely benign
Select item 881431	NM_021728.4(OTX2):c.*1018T>C	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic microphthalmia type 5 +1 more	GUncertain significance
Select item 881432	NM_021728.4(OTX2):c.*993G>C	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic microphthalmia type 5 +1 more	GUncertain significance
Select item 313407	NM_021728.4(OTX2):c.*966A>G	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +3 more	GBenign/Likely benign
Select item 313408	NM_021728.4(OTX2):c.*933C>T	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +3 more	GUncertain significance
Select item 313409	NM_021728.4(OTX2):c.*779G>A	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 313410	NM_021728.4(OTX2):c.*764G>A	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	OTX2-Related Syndromic Microphthalmia +3 more	GUncertain significance
Select item 881870	NM_021728.4(OTX2):c.*667A>C	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +1 more	GUncertain significance
Select item 883039	NM_021728.4(OTX2):c.*648C>A	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +1 more	GUncertain significance
Select item 313411	NM_021728.4(OTX2):c.*648C>G	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +3 more	GUncertain significance
Select item 313412	NM_021728.4(OTX2):c.*647A>G	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +3 more	GUncertain significance
Select item 313413	NM_021728.4(OTX2):c.*566GT[3]	OTX2	Microsatellite (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GUncertain significance
Select item 883040	NM_021728.4(OTX2):c.*543A>G	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic microphthalmia type 5 +1 more	GUncertain significance
Select item 313414	NM_021728.4(OTX2):c.*340del	OTX2	Deletion (3 prime UTR variant +1 more)	Combined Pituitary Hormone Deficiency, Dominant +4 more	GLikely benign
Select item 313415	NM_021728.4(OTX2):c.*316G>A	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +3 more	GConflicting classifications of pathogenicity
Select item 313416	NM_021728.4(OTX2):c.*219G>A	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic microphthalmia type 5 +3 more	GUncertain significance
Select item 883822	NM_021728.4(OTX2):c.*147G>T	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary hormone deficiency, combined, 6 +1 more	GUncertain significance
Select item 663960	NC_000014.9:g.(?_56801715)_(56802375_?)del	OTX2	Deletion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 647944	NC_000014.9:g.(?_56801715)_(56804383_?)del	OTX2	Deletion	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 288866	NM_021728.4(OTX2):c.*10G>A	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Syndromic microphthalmia type 5 +5 more	GBenign/Likely benign
Select item 1217787	NM_021728.4(OTX2):c.883C>T (p.Gln295Ter)	OTX2 (Q287* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
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
Select item 741861	NM_021728.4(OTX2):c.873G>A (p.Ser291=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 1047245	NM_021728.4(OTX2):c.872C>T (p.Ser291Leu)	OTX2 (S283L +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +1 more	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 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 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 760170	NM_021728.4(OTX2):c.840T>C (p.Ala280=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Pituitary hormone deficiency, combined, 6 +1 more	GBenign/Likely benign
Select item 1084904	NM_021728.4(OTX2):c.837T>C (p.Asn279=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 477629	NM_021728.4(OTX2):c.831C>T (p.Asn277=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GBenign
Select item 1018121	NM_021728.4(OTX2):c.821G>A (p.Trp274Ter)	OTX2 (W266* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 812111	NM_021728.4(OTX2):c.811del (p.Thr271fs)	OTX2 (T263fs +1 more)	Deletion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
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 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 545433	NM_021728.4(OTX2):c.781_784del (p.Thr261fs)	OTX2 (T253fs +1 more)	Deletion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
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 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 1003380	NM_021728.4(OTX2):c.774dup (p.Asn259Ter)	OTX2 (N251* +1 more)	Duplication (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 426512	NM_021728.4(OTX2):c.764G>A (p.Ser255Asn)	OTX2 (S247N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 813574	NM_021728.4(OTX2):c.758C>T (p.Ala253Val)	OTX2 (A253V +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
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 450004	NM_021728.4(OTX2):c.754G>T (p.Gly252Ter)	OTX2 (G244* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 666555	NM_021728.4(OTX2):c.749del (p.Gly250fs)	OTX2 (G242fs +1 more)	Deletion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
Select item 839619	NM_021728.4(OTX2):c.745C>T (p.Gln249Ter)	OTX2 (Q241* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
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 839839	NM_021728.4(OTX2):c.743C>T (p.Thr248Ile)	OTX2 (T240I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1029266	NM_021728.4(OTX2):c.730G>A (p.Ala244Thr)	OTX2 (A236T +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 6	GUncertain significance
Select item 641871	NM_021728.4(OTX2):c.730G>T (p.Ala244Ser)	OTX2 (A236S +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 1320211	NM_021728.4(OTX2):c.728dup (p.Ala244fs)	OTX2 (A236fs +1 more)	Duplication (frameshift variant +1 more)	Syndromic microphthalmia type 5	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 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 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 881494	NM_021728.4(OTX2):c.713A>T (p.His238Leu)	OTX2 (H230L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
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 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 1213868	NM_021728.4(OTX2):c.698del (p.Asn233fs)	OTX2 (N225fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis	GPathogenic
Select item 30023	NM_021728.4(OTX2):c.698A>G (p.Asn233Ser)	OTX2 (N233S +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 6	GPathogenic
Select item 958521	NM_021728.4(OTX2):c.682A>G (p.Ser228Gly)	OTX2 (S220G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 497433	NM_021728.4(OTX2):c.680T>G (p.Leu227Arg)	OTX2 (L219R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 561071	NM_021728.4(OTX2):c.673del (p.Ala225fs)	OTX2 (A217fs +1 more)	Deletion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
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 1409764	NM_021728.4(OTX2):c.664G>A (p.Gly222Arg)	OTX2 (G214R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 706016	NM_021728.4(OTX2):c.663C>T (p.Pro221=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome	GLikely benign
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 581417	NM_021728.4(OTX2):c.658_659delinsG (p.Leu220fs)	OTX2 (L212fs +1 more)	Indel (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 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 288894	NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)	OTX2 (T206N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 1184455	NM_021728.4(OTX2):c.634_640del (p.Tyr212fs)	OTX2 (Y204fs +1 more)	Deletion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
Select item 945360	NM_021728.4(OTX2):c.632C>A (p.Ser211Ter)	OTX2 (S203* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
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 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 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 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 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 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 842588	NM_021728.4(OTX2):c.596del (p.Gly199fs)	OTX2 (G199fs +1 more)	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
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 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 30027	NM_021728.4(OTX2):c.586G>T (p.Gly196Ter)	OTX2 (G188* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic
Select item 858623	NM_021728.4(OTX2):c.580A>G (p.Ser194Gly)	OTX2 (S186G +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome	GUncertain significance
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 737782	NM_021728.4(OTX2):c.570T>C (p.Ala190=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 862583	NM_021728.4(OTX2):c.567G>A (p.Gln189=)	OTX2	Single nucleotide variant (synonymous 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 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 9518	NM_021728.4(OTX2):c.561T>A (p.Tyr187Ter)	OTX2 (Y179* +1 more)	Single nucleotide variant (nonsense +1 more)	Syndromic microphthalmia type 5	GPathogenic
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 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 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 1710330	NM_021728.4(OTX2):c.549T>G (p.Tyr183Ter)	OTX2 (Y175* +1 more)	Single nucleotide variant (nonsense +1 more)	Anophthalmia	GPathogenic
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 288042	NM_021728.4(OTX2):c.534C>A (p.Cys178Ter)	OTX2 (C170* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2834678	NM_021728.4(OTX2):c.516del (p.Leu172fs)	OTX2 (L164fs +1 more)	Deletion (frameshift variant +1 more)	Anophthalmia-microphthalmia syndrome	GPathogenic

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