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Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ACTR10, AKAP5
+344 more
Copy number loss
See cases
GPathogenic
AKAP5, C14orf39
+264 more
Copy number loss
See cases
GPathogenic
AKAP5, CHURC1
+130 more
Copy number loss
See cases
GPathogenic
ESR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ESR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ESR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ESR2
(K474T)
Single nucleotide variant
(missense variant +1 more)
ESR2-related condition
+1 more
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ESR2
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
(Q528fs +1 more)
Microsatellite
(frameshift variant +2 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
(G509V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ESR2
(G509W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ESR2
(C503Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
ESR2
(G411R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
(L462P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR2
(S353N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ESR2
(W348C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
ESR2-related condition
+1 more
GLikely benign
ESR2
(A336V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ESR2
(L426R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR2
(L322V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ESR2, LOC130055821
(M410T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ESR2
(L406V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ESR2
(E396fs)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
ESR2
(R388Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
ESR2
(T384I)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ESR2
(K368E)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
(K353M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ESR2
(R346C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GBenign
ESR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(non-coding transcript variant +1 more)
ESR2-related condition
+1 more
GBenign
ESR2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ESR2
(K314R)
Single nucleotide variant
(missense variant +1 more)
Ovarian dysgenesis 8
GPathogenic
ESR2
(A302S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ESR2
(E291K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ESR2
(P285S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR2
(I282V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
(L270F)
Single nucleotide variant
(missense variant +1 more)
ESR2-related condition
+1 more
GLikely benign
ESR2
(Q267H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR2
(R254P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ESR2
(P253T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
(A252V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
ESR2
(G250S)
Single nucleotide variant
(missense variant +1 more)
ESR2-related condition
+1 more
GBenign/Likely benign
ESR2
(K246E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ESR2
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
ESR2
(G243D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
ESR2
(R230Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
(L228P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR2
(R221G)
Single nucleotide variant
(missense variant +1 more)
ESR2-related condition
+1 more
GLikely benign
ESR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR2
Deletion
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
ESR2
Single nucleotide variant
(synonymous variant +1 more)
ESR2-related condition
+1 more
GBenign
ESR2
(R207W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
(N181del)
Deletion
(inframe_deletion +1 more)
not provided
GConflicting classifications of pathogenicity
ESR2
Single nucleotide variant
(intron variant)
ESR2-related condition
GLikely benign
ESR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR2
(C169F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ESR2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ESR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ESR2
(Y159H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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