ClinVar for MedGen (Select 350491) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338471	GRCh37/hg19 14q22.2-22.3(chr14:54866611-57272174)x1	ATG14, CDKN3 +16 more	Copy number loss	Syndromic microphthalmia type 5	GLikely pathogenic
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 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 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 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 1417039	NM_021728.4(OTX2):c.380G>A (p.Arg127Gln)	OTX2 (R119Q +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +3 more	GUncertain significance
Select item 1332784	NM_021728.4(OTX2):c.278G>T (p.Trp93Leu)	OTX2 (W85L +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic microphthalmia type 5	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 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 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 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 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 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 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 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 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 880601	NM_021728.4(OTX2):c.96G>T (p.Pro32=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Syndromic microphthalmia type 5 +1 more	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 803030	NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)	OTX2 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 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 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 500507	NM_172337.2(OTX2):c.402dup (p.Ser135Leufs)	OTX2 (S135fs +1 more)	Duplication (frameshift variant +1 more)	Syndromic microphthalmia type 5 +2 more	GPathogenic
Select item 313424	NM_021728.4(OTX2):c.-119-65G>T	OTX2	Single nucleotide variant (5 prime UTR variant +2 more)	Pituitary hormone deficiency, combined, 6 +3 more	GUncertain significance
Select item 313422	NM_021728.4(OTX2):c.97+12C>T	OTX2	Single nucleotide variant (intron variant)	Pituitary hormone deficiency, combined, 6 +5 more	GBenign/Likely benign
Select item 313419	NM_021728.4(OTX2):c.380G>C (p.Arg127Pro)	OTX2 (R119P +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +4 more	GUncertain significance
Select item 313418	NM_021728.4(OTX2):c.380G>T (p.Arg127Leu)	OTX2 (R119L +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 6 +5 more	GUncertain significance
Select item 313417	NM_021728.4(OTX2):c.459C>T (p.Ser153=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 190251	NM_021728.4(OTX2):c.259G>A (p.Glu87Lys)	OTX2 (E79K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 190250	NM_021728.4(OTX2):c.289C>T (p.Arg97Ter)	OTX2 (R97* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 190249	NM_021728.4(OTX2):c.316del (p.Gln106fs)	OTX2 (Q106fs +1 more)	Deletion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
Select item 30028	NM_021728.4(OTX2):c.294A>T (p.Arg98Ser)	OTX2 (R90S +1 more)	Single nucleotide variant (missense variant +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 30026	NM_021728.4(OTX2):c.245_260del (p.Lys82fs)	OTX2 (K82fs +1 more)	Deletion (frameshift variant)	Syndromic microphthalmia type 5	GPathogenic
Select item 30025	NM_021728.4(OTX2):c.437C>G (p.Ser146Ter)	OTX2 (S138* +1 more)	Single nucleotide variant (nonsense +1 more)	Syndromic microphthalmia type 5	GPathogenic
Select item 30024	NM_021728.4(OTX2):c.428_429dup (p.Ser144fs)	OTX2 (S144fs +1 more)	Microsatellite (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
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 9517	NM_021728.4(OTX2):c.81del (p.Ser28fs)	OTX2 (S28fs)	Deletion (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
Select item 9516	NM_021728.4(OTX2):c.289C>G (p.Arg97Gly)	OTX2 (R89G +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic microphthalmia type 5	GPathogenic
Select item 9515	NM_021728.4(OTX2):c.487_488dup (p.Ser164fs)	OTX2 (S156fs +1 more)	Duplication (frameshift variant +1 more)	Syndromic microphthalmia type 5	GPathogenic

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Items: 48