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Links from MedGen

Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PITX2
(L124V +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GUncertain significance
PITX2
(N142S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(E84* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(A119P +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Single nucleotide variant
(synonymous variant)
Anterior segment dysgenesis 4
+1 more
GLikely benign
ALPK1, ANK2
+55 more
Deletion
Axenfeld-Rieger syndrome type 1
GLikely pathogenic
PITX2
(P117R +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Single nucleotide variant
(synonymous 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
(V28G +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(M226V +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
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
(P120S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(R89P +2 more)
Indel
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
Single nucleotide variant
(splice acceptor variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(W121* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(S101fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(R136P +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
(V129F +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GLikely pathogenic
PITX2
(F46S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
GLikely pathogenic
PITX2
(H45fs +2 more)
Duplication
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(S237fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
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
(N169fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(W133* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
(D122fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
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
(Q21* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Single nucleotide variant
(synonymous variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
(T145S +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely benign
PITX2
(A73T +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(R97fs +2 more)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
PITX2
Deletion
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Duplication
(nonsense +1 more)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(Y167* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic/Likely pathogenic
PITX2
(E53* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(K17* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
GLikely pathogenic
PITX2
(Y109fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GLikely pathogenic
PITX2
(R43W +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+2 more
GPathogenic/Likely pathogenic
PITX2
(R137W +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GLikely pathogenic
PITX2
Deletion
Axenfeld-Rieger syndrome type 1
+1 more
GLikely pathogenic
PITX2
(W128* +2 more)
Single nucleotide variant
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Indel
(nonsense)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+7 more
GBenign
PITX2
Single nucleotide variant
(3 prime UTR variant)
Irido-corneo-trabecular dysgenesis
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GBenign
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+7 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(5 prime UTR variant +1 more)
Anterior segment dysgenesis 4
+6 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(5 prime UTR variant)
Anterior segment dysgenesis 4
+6 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(5 prime UTR variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GConflicting classifications of pathogenicity
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)
Irido-corneo-trabecular dysgenesis
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(5 prime UTR variant)
Hypoplasia of the iris
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(5 prime UTR variant +1 more)
Hypoplasia of the iris
+6 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(synonymous variant)
PITX2-Related Eye Abnormalities
+6 more
GUncertain significance
PITX2
(S179N +2 more)
Single nucleotide variant
(missense variant)
PITX2-Related Eye Abnormalities
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
PITX2-Related Eye Abnormalities
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(5 prime UTR variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(5 prime UTR variant)
Hypoplasia of the iris
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GBenign/Likely benign
PITX2
Single nucleotide variant
(intron variant)
Hypoplasia of the iris
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Axenfeld-Rieger syndrome type 1
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+7 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(5 prime UTR variant +1 more)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(5 prime UTR variant +1 more)
Anterior segment dysgenesis 4
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(intron variant)
PITX2-Related Eye Abnormalities
+6 more
GUncertain significance
PITX2
(S314N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PITX2
(I118fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(K36fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Deletion
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
Single nucleotide variant
(intron variant)
Anterior segment dysgenesis 4
+1 more
GLikely benign
PITX2
Single nucleotide variant
(splice donor variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Single nucleotide variant
(splice donor variant)
Anterior segment dysgenesis 4
+1 more
GPathogenic
PITX2
(V253M +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
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