Related gene-specific medical variations for Gene (Select 5015) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2689645	NM_021728.4(OTX2):c.305_313del (p.Arg102_Gln104del)	OTX2	Deletion (inframe_deletion +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 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 1341157	GRCh37/hg19 14q22.3(chr14:57126229-57336190)x1	OTX2	Copy number loss	not provided	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 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 866703	NM_021728.4(OTX2):c.53C>A (p.Thr18Asn)	OTX2 (T18N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866052	NM_021728.4(OTX2):c.455G>A (p.Ser152Asn)	OTX2 (S144N +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 815661	GRCh37/hg19 14q22.3(chr14:57130786-57577796)x1	OTX2	Copy number loss	not provided	GPathogenic