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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NAA10
(D125Y +2 more)
Single nucleotide variant
(missense variant)
Ogden syndrome
+1 more
GUncertain significance
NAA10
Single nucleotide variant
(intron variant)
Ogden syndrome
+2 more
GBenign/Likely benign
BCOR, LOC126863239
(H360Y)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
+2 more
GUncertain significance
NAA10
(T137fs +2 more)
Microsatellite
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
NAA10
(L80R +1 more)
Single nucleotide variant
(missense variant)
Microphthalmia, syndromic 1
+1 more
GPathogenic
NAA10
(H16P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
+3 more
GPathogenic/Likely pathogenic
BCOR
(L808H)
Single nucleotide variant
(missense variant)
Microphthalmia, syndromic 1
+2 more
GBenign/Likely benign
BCOR, LOC126863239
(A161V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NAA10
Single nucleotide variant
(3 prime UTR variant)
Microphthalmia, syndromic 1
GLikely pathogenic
NAA10
Single nucleotide variant
(3 prime UTR variant)
Microphthalmia, syndromic 1
+1 more
GPathogenic/Likely pathogenic
NAA10
Single nucleotide variant
(3 prime UTR variant)
Microphthalmia, syndromic 1
+1 more
GConflicting classifications of pathogenicity
BCOR
(L808H)
Indel
(missense variant)
not provided
+2 more
GBenign/Likely benign
BCOR
Single nucleotide variant
(synonymous variant)
Microphthalmia, syndromic 1
+2 more
GBenign/Likely benign
BCOR
(V679I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BCOR, LOC126863239
(V137I)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
+2 more
GLikely benign
NAA10
Single nucleotide variant
(splice donor variant)
Microphthalmia, syndromic 1
GPathogenic
BCOR
(G709S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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