ClinVar for MedGen (Select 462790) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1417039	NM_021728.4(OTX2):c.380G>A (p.Arg127Gln)	OTX2 (R119Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 6 +3 more	GUncertain significance
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 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 883118	NM_021728.4(OTX2):c.406A>G (p.Ser136Gly)	OTX2 (S136G +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 6	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 881938	NM_021728.4(OTX2):c.444G>A (p.Pro148=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 881937	NM_021728.4(OTX2):c.464C>G (p.Ala155Gly)	OTX2 (A147G +1 more)	Single nucleotide variant (missense variant +1 more)	Pituitary hormone deficiency, combined, 6	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 803030	NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)	OTX2 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 760170	NM_021728.4(OTX2):c.840T>C (p.Ala280=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	Anophthalmia-microphthalmia syndrome +1 more	GBenign/Likely benign
Select item 313424	NM_021728.4(OTX2):c.-119-65G>T	OTX2	Single nucleotide variant (5 prime UTR variant +2 more)	Syndromic microphthalmia type 5 +3 more	GUncertain significance
Select item 313422	NM_021728.4(OTX2):c.97+12C>T	OTX2	Single nucleotide variant (intron variant)	OTX2-Related Syndromic Microphthalmia +5 more	GBenign/Likely benign
Select item 313421	NM_021728.4(OTX2):c.270G>T (p.Val90=)	OTX2	Single nucleotide variant (synonymous variant)	OTX2-Related Syndromic Microphthalmia +4 more	GConflicting classifications of pathogenicity
Select item 313420	NM_021728.4(OTX2):c.273+11T>C	OTX2	Single nucleotide variant (intron variant)	Syndromic Microphthalmia, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 313419	NM_021728.4(OTX2):c.380G>C (p.Arg127Pro)	OTX2 (R119P +1 more)	Single nucleotide variant (missense variant +1 more)	OTX2-Related Syndromic Microphthalmia +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)	OTX2-Related Syndromic Microphthalmia +5 more	GUncertain significance
Select item 313417	NM_021728.4(OTX2):c.459C>T (p.Ser153=)	OTX2	Single nucleotide variant (synonymous variant +1 more)	OTX2-Related Syndromic Microphthalmia +4 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 313415	NM_021728.4(OTX2):c.*316G>A	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	OTX2-Related Syndromic Microphthalmia +3 more	GConflicting classifications of pathogenicity
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)	OTX2-Related Syndromic Microphthalmia +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)	Syndromic Microphthalmia, Dominant +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)	Syndromic microphthalmia type 5 +3 more	GUncertain significance
Select item 313407	NM_021728.4(OTX2):c.*966A>G	OTX2	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 288894	NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)	OTX2 (T206N +1 more)	Single nucleotide variant (missense variant +1 more)	Anophthalmia-microphthalmia syndrome +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)	not provided +5 more	GBenign/Likely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 33