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Links from MedGen

Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
(F48del)
Deletion
(inframe_deletion)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Deletion
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
SOX2, SOX2-OT
(A281G)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
(M273I)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
(Y110fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(E86*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G23V)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
(T232A)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GBenign
LOC108281177, SOX2
+1 more
(G179V)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GBenign
LOC108281177, SOX2
+1 more
(G169D)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
(M197I)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
(Y207*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G130E)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
(P264T)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GUncertain significance
LOC108281177, SOX2
+1 more
Microsatellite
(inframe_insertion)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(M163V)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
SOX2, SOX2-OT
(A248S)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
(G129fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G169S)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2-OT, SOX2
(M276I)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
SOX2, SOX2-OT
(G234S)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GBenign
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
Deletion
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
(G31fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(A133G)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(A29T)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
(S18K)
Indel
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC108281177, SOX2
+1 more
(R56P)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(N154K)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(L81fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(Y110S)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
(S257fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GBenign
SOX2, SOX2-OT
(H297R)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GConflicting classifications of pathogenicity
SOX2, SOX2-OT
(N187S)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GBenign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
(Y180fs)
Insertion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(W166*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(P38L)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SOX2, SOX2-OT
(M197V)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(Y110*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
SOX2, SOX2-OT
(S290T)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+2 more
GConflicting classifications of pathogenicity
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GLikely benign
SOX2-OT, SOX2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LOC108281177, SOX2
+1 more
(M59fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(W166*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GPathogenic
LOC108281177, SOX2
+1 more
(R96P)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(E8*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
SOX2, SOX2-OT
(S315fs)
Microsatellite
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G20fs)
Indel
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G20fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(Q182fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(P181fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC108281177, SOX2
+1 more
(E6*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G135fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SOX2, SOX2-OT
(Y200*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
(L314fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(R56G)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(M1fs)
Deletion
(frameshift variant +1 more)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(M163fs)
Microsatellite
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
Indel
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2-OT, SOX2
(M276fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Microsatellite
(inframe_insertion)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(E104*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(P44R)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
(I308fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
ATP11B, SOX2
+11 more
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2, SOX2-OT
(A287P)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GBenign
B3GNT5, LAMP3
+1 more
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
MCF2L2
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
ECE2, FAM131A
+34 more
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
Translocation
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2-OT, TTC14
+4 more
Copy number loss
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(N33fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G130fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(F48S)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(Q34*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(Y2fs)
Duplication
(frameshift variant +1 more)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(S18*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
SOX2, SOX2-OT
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely benign
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