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Links from MedGen

Items: 1 to 100 of 608

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX6
Deletion
Aniridia 1
+1 more
GPathogenic
PAX6
Deletion
Aniridia 1
+1 more
GLikely pathogenic
ELP4, PAX6
Duplication
Aniridia 1
+1 more
GUncertain significance
PAX6
Deletion
Aniridia 1
+1 more
GPathogenic
PAX6
(A38P +2 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GLikely pathogenic
PAX6
(E195D +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+2 more
GUncertain significance
PAX6
(W121S +9 more)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(Y157fs +8 more)
Duplication
(frameshift variant +1 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(R140G +7 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
(Q37fs)
Insertion
(nonsense +4 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(H115fs +2 more)
Deletion
(frameshift variant +3 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GUncertain significance
PAX6
(G76E +5 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(I123L +2 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(Q148K +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Deletion
(splice acceptor variant)
Aniridia 1
+1 more
GLikely pathogenic
PAX6
Single nucleotide variant
(synonymous variant)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(synonymous variant +3 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(V17fs +2 more)
Deletion
(frameshift variant +3 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(synonymous variant +3 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(Q178K +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
ELP4, PAX6
Single nucleotide variant
(3 prime UTR variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(G72A +5 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(synonymous variant +3 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(splice donor variant)
Aniridia 1
+1 more
GLikely pathogenic
PAX6
(P280fs +9 more)
Duplication
(frameshift variant +1 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(V117L +5 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(C112Y +5 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(E124K +5 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(T117fs +9 more)
Duplication
(frameshift variant +1 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(5 prime UTR variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(synonymous variant +3 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(P330L +9 more)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GUncertain significance
PAX6
(M180I +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(P21S +2 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
(P345S +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(synonymous variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
(G198V +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GUncertain significance
PAX6
(F15fs +2 more)
Deletion
(frameshift variant +3 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(Q167* +8 more)
Single nucleotide variant
(nonsense +1 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(G141* +8 more)
Single nucleotide variant
(nonsense +2 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(synonymous variant +2 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(synonymous variant +2 more)
PAX6-related disorder
+2 more
GLikely benign
PAX6
(S360N +9 more)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(synonymous variant +3 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(D129E +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
COL4A1
(G130W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAX6
(P168T +9 more)
Single nucleotide variant
(missense variant)
Irido-corneo-trabecular dysgenesis
GLikely pathogenic
PAX6
(T373A +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+2 more
GUncertain significance
ELP4, PAX6
Deletion
Aniridia 1
+1 more
GPathogenic
PAX6
Deletion
Aniridia 1
+1 more
GPathogenic
PAX6
Deletion
Aniridia 1
+1 more
GPathogenic
ELP4, PAX6
Deletion
Aniridia 1
+1 more
GPathogenic
PAX6
Deletion
Aniridia 1
+1 more
GPathogenic
PAX6
(S126G +9 more)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(T120S +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(5 prime UTR variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(synonymous variant)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(synonymous variant +3 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(V111I +2 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(synonymous variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(synonymous variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(R38P +2 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GLikely pathogenic
PAX6
Single nucleotide variant
(synonymous variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
(P54S)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(synonymous variant +1 more)
Aniridia 1
+1 more
GLikely benign
PAX6
(R38Q +2 more)
Single nucleotide variant
(missense variant +3 more)
Irido-corneo-trabecular dysgenesis
+1 more
GPathogenic/Likely pathogenic
PAX6
(R231W +8 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(synonymous variant +2 more)
Aniridia 1
+1 more
GLikely benign
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GLikely benign
PAX6
(Q2* +1 more)
Single nucleotide variant
(nonsense +4 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(splice donor variant +1 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(G99W +2 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GLikely pathogenic
PAX6
(C121fs +2 more)
Duplication
(frameshift variant +3 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(V67L +5 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GLikely pathogenic
PAX6
(G87S +5 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(E132* +5 more)
Single nucleotide variant
(nonsense +3 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(T253fs +9 more)
Microsatellite
(frameshift variant +1 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(intron variant)
Aniridia 1
+1 more
GUncertain significance
PAX6
(R106H +8 more)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Deletion
(splice donor variant)
Aniridia 1
+1 more
GPathogenic
PAX6
(L171V +8 more)
Single nucleotide variant
(missense variant +1 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Duplication
(5 prime UTR variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(splice acceptor variant)
Aniridia 1
+1 more
GPathogenic
PAX6
(Y301* +8 more)
Duplication
(nonsense +2 more)
Aniridia 1
+1 more
GPathogenic
PAX6
Single nucleotide variant
(synonymous variant)
Aniridia 1
+1 more
GLikely pathogenic
PAX6
(V129G +5 more)
Single nucleotide variant
(missense variant +2 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
(P120fs +2 more)
Deletion
(frameshift variant +3 more)
Aniridia 1
+1 more
GPathogenic
PAX6
(T94A +5 more)
Single nucleotide variant
(missense variant +3 more)
Aniridia 1
+1 more
GUncertain significance
PAX6
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GUncertain significance
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