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Items: 1 to 100 of 261

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMOTL2, DNAJC13
+1343 more
Copy number gain
See cases
GPathogenic
BPESC1, BTLA
+2645 more
Copy number gain
See cases
GPathogenic
ALDH1L1, ALDH1L1-AS1
+484 more
Copy number gain
See cases
GUncertain significance
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
ARMC8, ASTE1
+345 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+212 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+301 more
Copy number loss
See cases
GPathogenic
LOC129937661, LOC129937662
+320 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+167 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+221 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+171 more
Copy number loss
See cases
GPathogenic
A4GNT, ARMC8
+155 more
Copy number loss
See cases
GPathogenic
ARMC8, CEP70
+24 more
Copy number gain
See cases
GUncertain significance
CEP70, ESYT3
+19 more
Copy number gain
See cases
GLikely benign
CEP70, FAIM
+22 more
Copy number gain
See cases
GUncertain significance
BPESC1, CEP70
+23 more
Copy number gain
See cases
GUncertain significance
BPESC1, CLSTN2
+39 more
Copy number gain
See cases
GPathogenic
FOXL2
Duplication
(3 prime UTR variant)
not provided
GBenign
FOXL2
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GBenign
FOXL2
Single nucleotide variant
(3 prime UTR variant)
FOXL2-related condition
GLikely benign
FOXL2
Copy number loss
See cases
GPathogenic
FOXL2
Inversion
(3 prime UTR variant +1 more)
not provided
GPathogenic
FOXL2
(S372L)
Single nucleotide variant
(missense variant)
FOXL2-related condition
GUncertain significance
FOXL2
(G368fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FOXL2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
FOXL2
(M356T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FOXL2
(R349G)
Single nucleotide variant
(missense variant)
Genetic non-acquired premature ovarian failure
GLikely pathogenic
FOXL2
(P341fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
FOXL2
(T338fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(A334fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(H312fs)
Indel
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P332A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
(A330fs)
Duplication
(frameshift variant)
Premature ovarian failure 3
GPathogenic
FOXL2
(T329fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(A328fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(Q321fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(Q321fs)
Duplication
(frameshift variant)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
GPathogenic
FOXL2
(P317fs)
Microsatellite
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P318Q)
Single nucleotide variant
(missense variant)
Duane retraction syndrome
GUncertain significance
FOXL2
(A316fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FOXL2
(G313R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
(H312N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
(P310fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GLikely pathogenic
FOXL2
(H312fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P307fs)
Duplication
(frameshift variant)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
GPathogenic
FOXL2
(P305fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(A304fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FOXL2
(A303G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
(A303V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXL2
(H298fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P294fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FOXL2
(H291fs)
Duplication
(frameshift variant)
Genetic non-acquired premature ovarian failure
GPathogenic
FOXL2
(H291fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
FOXL2
(H291fs)
Deletion
(frameshift variant)
Premature ovarian failure 3
GPathogenic
FOXL2
(A283fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P287fs)
Deletion
(frameshift variant)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
+1 more
GPathogenic
FOXL2
(H289fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Gnot provided
FOXL2
(P287fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FOXL2
(P287fs)
Duplication
(frameshift variant)
FOXL2-related condition
+3 more
GPathogenic/Likely pathogenic
FOXL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FOXL2
(P287fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P286fs)
Indel
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P285fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P284fs)
Duplication
(frameshift variant)
not provided
GPathogenic
FOXL2
(P281fs)
Insertion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P281T)
Single nucleotide variant
(missense variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GLikely pathogenic
FOXL2
(P280R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXL2
(L277P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
(L277fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(Y274*)
Single nucleotide variant
(nonsense)
Premature ovarian failure 3
+1 more
GPathogenic
FOXL2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
FOXL2
(S273*)
Single nucleotide variant
(nonsense)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(V270L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
(G269S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
(G269fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
FOXL2
(G269fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P267T)
Single nucleotide variant
(missense variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GLikely benign
FOXL2
(M264T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXL2
(S263R)
Single nucleotide variant
(missense variant)
Genetic non-acquired premature ovarian failure
GLikely pathogenic
FOXL2
(Q262*)
Single nucleotide variant
(nonsense)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(T259fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FOXL2
(R260fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(Y258fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(Y258N)
Single nucleotide variant
(missense variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GUncertain significance
FOXL2
(P257R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXL2
(P257fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P257fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P257fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FOXL2
Single nucleotide variant
(synonymous variant)
FOXL2-related condition
+1 more
GBenign/Likely benign
FOXL2
(S254*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FOXL2
(P251fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FOXL2
(G250fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(V245G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXL2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FOXL2
(G240C)
Single nucleotide variant
(missense variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GUncertain significance
FOXL2
(G237S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXL2
Deletion
(inframe_deletion)
not provided
GPathogenic
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