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Items: 1 to 100 of 234

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD18, ADAD1
+661 more
Copy number gain
See cases
GPathogenic
PITX2
Single nucleotide variant
(3 prime UTR variant)
Irido-corneo-trabecular dysgenesis
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Irido-corneo-trabecular dysgenesis
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+7 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(3 prime UTR variant)
Anterior segment dysgenesis 1
+7 more
GBenign
PITX2
Single nucleotide variant
(3 prime UTR variant)
Irido-corneo-trabecular dysgenesis
+6 more
GUncertain significance
PITX2
Microsatellite
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
PITX2-Related Eye Abnormalities
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Irido-corneo-trabecular dysgenesis
+6 more
GUncertain significance
PITX2
Deletion
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(V320M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PITX2
(S314N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PITX2
(A257D +2 more)
Single nucleotide variant
(missense variant)
PITX2-related disorder
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
Deletion
Anterior segment dysgenesis 4
+1 more
GLikely pathogenic
PITX2
(V253M +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(F248C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITX2
(S237fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
PITX2
(Y227fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
GPathogenic
PITX2
Single nucleotide variant
(synonymous variant)
Anterior segment dysgenesis 1
+8 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
(A265fs +2 more)
Insertion
(frameshift variant)
not provided
GPathogenic
PITX2
(Y218F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PITX2
(C216* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PITX2
(P212fs +2 more)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(V211fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(S255fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(T232fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(G190D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PITX2
Duplication
(nonsense +1 more)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(M226V +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(S179N +2 more)
Single nucleotide variant
(missense variant)
PITX2-Related Eye Abnormalities
+6 more
GUncertain significance
PITX2
(M220I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PITX2
(N169fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(S166C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PITX2
(M210I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant)
PITX2-Related Eye Abnormalities
+9 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(synonymous variant)
Anterior segment dysgenesis 4
+1 more
GLikely benign
PITX2
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
(P211T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PITX2
(M154V +2 more)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 4
+7 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GBenign/Likely benign
PITX2
(T145S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
(A141T +2 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
PITX2
(A135T +2 more)
Single nucleotide variant
(missense variant)
Irido-corneo-trabecular dysgenesis
+9 more
GBenign/Likely benign
PITX2
(A134fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PITX2
(W133* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(W133* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(N177S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PITX2
(Y171* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(D122fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Indel
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(Y121* +2 more)
Single nucleotide variant
(nonsense)
Pituitary stalk interruption syndrome
GUncertain significance
PITX2
(Y167* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic/Likely pathogenic
PITX2
(P120S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(Q119fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(N115fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(N115fs +2 more)
Duplication
(frameshift variant)
Anterior segment dysgenesis
GPathogenic
PITX2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PITX2
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
(C159* +2 more)
Duplication
(nonsense)
Anterior segment dysgenesis 4
+1 more
GPathogenic
PITX2
(R97fs +2 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
PITX2
(A92P +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GUncertain significance
PITX2
(R91Q +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+2 more
GConflicting classifications of pathogenicity
PITX2
(R91P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
PITX2
(R137W +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely pathogenic
PITX2
(R91G +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant)
PITX2-related disorder
GLikely benign
PITX2
(R136P +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(N142S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(K88E +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(F133L +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GLikely pathogenic
PITX2
(W132C +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(W139S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Single nucleotide variant
(splice acceptor variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Single nucleotide variant
(splice acceptor variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic/Likely pathogenic
PITX2
Single nucleotide variant
(splice acceptor variant)
ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE
GPathogenic
PITX2
Single nucleotide variant
(intron variant)
PITX2-Related Eye Abnormalities
+6 more
GUncertain significance
PITX2
Deletion
(intron variant)
Cataract
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+2 more
GPathogenic
PITX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PITX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PITX2
Single nucleotide variant
(intron variant)
Lung adenocarcinoma
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PITX2
Single nucleotide variant
(intron variant)
not provided
GBenign
PITX2
Single nucleotide variant
(intron variant)
not provided
GBenign
PITX2
Single nucleotide variant
(intron variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Single nucleotide variant
(splice donor variant)
Anterior segment dysgenesis 4
+1 more
GPathogenic
PITX2
Single nucleotide variant
(splice donor variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
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