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Items: 1 to 100 of 216

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997450, LOC129997451
+1002 more
Copy number gain
See cases
GPathogenic
LOC129389692, LOC129389693
+614 more
Copy number gain
See cases
GPathogenic
LOC129389719, LOC129389720
+866 more
Copy number gain
See cases
GPathogenic
ADGB, ADGB-DT
+227 more
Copy number loss
See cases
GPathogenic
LOC129997480, LOC129997522
+288 more
Deletion
Chromosome 6q24-q25 deletion syndrome
GPathogenic
AKAP12, ARID1B
+288 more
Copy number loss
See cases
GPathogenic
AKAP12, ARID1B
+208 more
Copy number loss
Coffin-Siris syndrome 1
GPathogenic
ESR1
Insertion
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant +1 more)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
ESR1
(H6Y)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ESR1
Single nucleotide variant
(synonymous variant)
ESR1-related disorder
GLikely benign
ESR1
(S10F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
(A58T)
Single nucleotide variant
(missense variant)
Neoplasm
OUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ESR1
(G77S)
Single nucleotide variant
(missense variant)
not provided
GBenign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ESR1
(A88V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESR1
(G90D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
(F97S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESR1
(P99R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESR1
(P99L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESR1
(P99Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
(S118P)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
ESR1
(P136S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ESR1
(S137G)
Single nucleotide variant
(missense variant)
not provided
GBenign
ESR1
(P146Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
Myocardial infarction, susceptibility to
Grisk factor
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Deletion
(intron variant)
ESR1-related disorder
GBenign
ESR1
(P152A)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ESR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ESR1
(R157*)
Single nucleotide variant
(nonsense +1 more)
Estrogen resistance syndrome
GPathogenic
ESR1
(G160C)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ESR1
(Y18C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Deletion
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ESR1
Variation
(no sequence alteration)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Duplication
(intron variant)
not provided
GBenign
ESR1
(R268C +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
(K126R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESR1
(K303R +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
Grisk factor
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
Variation
(no sequence alteration)
not provided
GBenign
ESR1
(E330K +3 more)
Single nucleotide variant
(missense variant)
Neoplasm
OUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
(V364E +3 more)
Single nucleotide variant
(missense variant)
Estrogen resistance syndrome
GUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Deletion
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
(Q375H +3 more)
Single nucleotide variant
(missense variant)
Estrogen resistance syndrome
GPathogenic
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ESR1
(E380Q +3 more)
Single nucleotide variant
(missense variant)
Breast neoplasm
GLikely pathogenic
ESR1
(R394H +3 more)
Single nucleotide variant
(missense variant)
Estrogen resistance syndrome
GPathogenic/Likely pathogenic
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GLikely benign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GLikely benign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Microsatellite
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
(C447A +3 more)
Indel
(missense variant)
Estrogen receptor mutant, temperature-sensitive
GPathogenic
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
Single nucleotide variant
(intron variant)
not provided
GBenign
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