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Items: 1 to 100 of 254

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)
Ring dermoid of cornea
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Ring dermoid of cornea
+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)
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
(3 prime UTR variant)
PITX2-related disorder
GLikely benign
PITX2
Single nucleotide variant
(3 prime UTR variant)
PITX2-Related Eye Abnormalities
+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)
Ring dermoid of cornea
+6 more
GUncertain significance
PITX2
Microsatellite
(3 prime UTR variant)
Anterior segment dysgenesis 1
+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)
PITX2-Related Eye Abnormalities
+6 more
GConflicting classifications of pathogenicity
PITX2
Single nucleotide variant
(3 prime UTR variant)
Anterior segment dysgenesis 1
+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)
Ring dermoid of cornea
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Anterior segment dysgenesis 1
+6 more
GUncertain significance
PITX2
Single nucleotide variant
(3 prime UTR variant)
Ring dermoid of cornea
+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)
Axenfeld-Rieger syndrome type 1
+2 more
GUncertain significance
PITX2
(A257D +2 more)
Single nucleotide variant
(missense variant)
PITX2-related disorder
GUncertain significance
PITX2
Single nucleotide variant
(synonymous variant)
Anterior segment dysgenesis 4
+1 more
GLikely benign
PITX2
Deletion
Axenfeld-Rieger syndrome type 1
+1 more
GLikely pathogenic
PITX2
(V253M +2 more)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 4
+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)
Irido-corneo-trabecular dysgenesis
+7 more
GConflicting classifications of pathogenicity
PITX2
(S233L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PITX2
(Y227fs +2 more)
Deletion
(frameshift variant)
Anterior segment dysgenesis 4
+1 more
GPathogenic/Likely pathogenic
PITX2
Single nucleotide variant
(synonymous variant)
Anterior segment dysgenesis 1
+9 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
(S256N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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)
Ring dermoid of cornea
+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)
Irido-corneo-trabecular dysgenesis
+8 more
GConflicting classifications of pathogenicity
PITX2
(L159fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
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)
PITX2-Related Eye Abnormalities
+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)
Prostate cancer
GUncertain significance
PITX2
(A135T +2 more)
Single nucleotide variant
(missense variant)
not specified
+8 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
(P126T +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GUncertain significance
PITX2
(Y171* +2 more)
Single nucleotide variant
(nonsense)
Anterior segment dysgenesis 4
+1 more
GPathogenic
PITX2
(M124L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITX2
(D123E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITX2
(D122fs +2 more)
Deletion
(frameshift variant)
Axenfeld-Rieger syndrome type 1
GPathogenic
PITX2
Indel
(nonsense)
Anterior segment dysgenesis 4
+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)
Anterior segment dysgenesis 4
+1 more
GPathogenic
PITX2
(M118L +2 more)
Single nucleotide variant
(missense variant)
PITX2-related disorder
GUncertain significance
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
(P112L +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)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(R97fs +2 more)
Microsatellite
(frameshift variant)
Axenfeld-Rieger syndrome type 1
+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
(R137G +2 more)
Indel
(missense variant)
Axenfeld-Rieger syndrome type 1
+1 more
GPathogenic
PITX2
(R137W +2 more)
Single nucleotide variant
(missense variant)
Axenfeld-Rieger syndrome type 1
+2 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)
Axenfeld-Rieger syndrome type 1
+6 more
GUncertain significance
PITX2
Deletion
(intron variant)
Anterior segment dysgenesis 1
+6 more
GUncertain significance
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