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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH1A3, ALDH1A3-AS1
(A145V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Isolated microphthalmia 8
GLikely pathogenic
ALDH1A3-AS1, ALDH1A3
(W189*)
Single nucleotide variant
(non-coding transcript variant +2 more)
Isolated microphthalmia 8
GPathogenic
ALDH1A3, ALDH1A3-AS1
(G176del +1 more)
Deletion
(inframe_deletion)
Isolated microphthalmia 8
GUncertain significance
ALDH1A3, ALDH1A3-AS1
(G175A +1 more)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 8
GLikely pathogenic
ALDH1A3, ALDH1A3-AS1
(D185Y +1 more)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 8
GUncertain significance
ALDH1A3, ALDH1A3-AS1
(S211Y +1 more)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 8
GUncertain significance
ALDH1A3, ALDH1A3-AS1
(G275R +1 more)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 8
GLikely pathogenic
ALDH1A3, ALDH1A3-AS1
Single nucleotide variant
(splice donor variant)
Isolated microphthalmia 8
GPathogenic
ALDH1A3, ALDH1A3-AS1
(I358F +1 more)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 8
GUncertain significance
ALDH1A3, ALDH1A3-AS1
(R380G +1 more)
Single nucleotide variant
(missense variant)
Isolated microphthalmia 8
GLikely pathogenic
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