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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PITX2
Single nucleotide variant
(synonymous variant)
PITX2-Related Eye Abnormalities
+8 more
GBenign/Likely benign
PITX2
(Y218F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant)
PITX2-Related Eye Abnormalities
+9 more
GConflicting classifications of pathogenicity
PITX2
(A135T +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+9 more
GBenign/Likely benign
PITX2
(R91Q +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+2 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PITX2
(K19R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
PITX2
(G6V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
PITX2-related condition
+1 more
GLikely benign
PITX2
(A20V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITX2
(V17M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PITX2
Insertion
(intron variant)
Axenfeld-Rieger syndrome type 1
+2 more
GBenign
PITX2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PITX2
Indel
(intron variant)
not specified
GBenign
PITX2
Single nucleotide variant
(intron variant)
Axenfeld-Rieger syndrome type 1
+7 more
GBenign/Likely benign
PITX2
Insertion
(intron variant)
not provided
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
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