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Items: 1 to 100 of 238

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
LOC129938312, LOC129938313
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937897, LOC129937898
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
LOC129938326, LOC129938327
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938320, LOC129938321
+1041 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+867 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+866 more
Copy number gain
See cases
GPathogenic
ALG3, AP2M1
+280 more
Duplication
Currarino triad
GLikely pathogenic
LINC01206, ACTL6A
+44 more
Deletion
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
LINC01206, LINC01994
+13 more
Copy number loss
See cases
GPathogenic
LINC01206, LOC108281177
+8 more
Copy number loss
See cases
GPathogenic
LOC108281177, LOC108281178
+2 more
Copy number gain
See cases
GBenign
LOC108281177, LOC108281178
+2 more
Copy number loss
See cases
GPathogenic
LOC108281177, LOC108281178
+2 more
Copy number loss
See cases
GPathogenic
LOC108281177, SOX2
+1 more
Copy number gain
See cases
GBenign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(5 prime UTR variant)
not specified
GBenign
LOC108281177, SOX2
+1 more
(M1fs)
Deletion
(frameshift variant +1 more)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC108281178, LOC123256955
+3 more
Deletion
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC108281177, SOX2
+1 more
(Y2fs)
Duplication
(frameshift variant +1 more)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(E6*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(T7M)
Single nucleotide variant
(missense variant)
Congenital aniridia
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(E8*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
Deletion
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
SOX2-related disorder
+1 more
GLikely benign
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)
not provided
GLikely benign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GLikely benign
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC108281177, SOX2
+1 more
(S18K)
Indel
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GConflicting classifications of pathogenicity
LOC108281177, SOX2
+1 more
(S18*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G21fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+1 more
GPathogenic
LOC108281177, SOX2
+1 more
(G21fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G20fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
SOX2-OT, LOC108281177
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LOC108281177, SOX2
+1 more
(G19V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC108281177, SOX2
+1 more
Microsatellite
(inframe_insertion)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(G31fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G31fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(G20fs)
Indel
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(N24fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+3 more
GPathogenic
LOC108281177, SOX2
+1 more
(N24fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
LOC108281177, SOX2
+1 more
(G23V)
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
(T26A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC108281177, SOX2
+1 more
Microsatellite
(inframe_insertion)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(N33fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous 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
LOC108281177, SOX2
+1 more
(S37fs)
Duplication
(frameshift variant)
Microphthalmia
GPathogenic
LOC108281177, SOX2
+1 more
(Q34*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(P38L)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(R43W)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC108281177, SOX2
+1 more
(P44R)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(M45L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108281177, SOX2
+1 more
(N46K)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(F48del)
Deletion
(inframe_deletion)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(F48V)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(F48S)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(F48*)
Indel
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
LOC108281177, SOX2
+1 more
(S52P)
Single nucleotide variant
(missense variant)
Chorioretinal coloboma
GLikely pathogenic
LOC108281177, SOX2
+1 more
(R53fs)
Duplication
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC108281177, SOX2
+1 more
(G54W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108281177, SOX2
+1 more
(Q55*)
Single nucleotide variant
(nonsense)
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
(R56W)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
LOC108281177, SOX2
+1 more
(R56P)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GUncertain significance
SOX2, SOX2-OT
+1 more
(R57fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC108281177, SOX2
+1 more
(M59fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(Q61*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC108281177, SOX2
+1 more
(H67fs)
Duplication
(frameshift variant)
not provided
GPathogenic
LOC108281177, SOX2
+1 more
(E70G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
SOX2-related disorder
GLikely benign
LOC108281177, SOX2
+1 more
(R74P)
Single nucleotide variant
(missense variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(G76D)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
SOX2-related disorder
+1 more
GBenign/Likely benign
LOC108281177, SOX2
+1 more
(L81F)
Single nucleotide variant
(missense variant)
SOX2-related disorder
GUncertain significance
LOC108281177, SOX2
+1 more
(L81fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GLikely pathogenic
LOC108281177, SOX2
+1 more
(L82fs)
Deletion
(frameshift variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
Single nucleotide variant
(synonymous variant)
Anophthalmia/microphthalmia-esophageal atresia syndrome
+3 more
GLikely benign
LOC108281177, SOX2
+1 more
(L82*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(S83*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(T85M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC108281177, SOX2
+1 more
(E86fs)
Indel
(frameshift variant)
Anophthalmia
GPathogenic
LOC108281177, SOX2
+1 more
(E86*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(E93Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC108281177, SOX2
+1 more
(A94fs)
Duplication
(frameshift variant)
SOX2-related disorder
GLikely pathogenic
LOC108281177, SOX2
+1 more
(E93*)
Single nucleotide variant
(nonsense)
Anophthalmia/microphthalmia-esophageal atresia syndrome
GPathogenic
LOC108281177, SOX2
+1 more
(K95*)
Duplication
(nonsense)
not provided
GPathogenic
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