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Items: 1 to 100 of 209

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129997469, LOC129997470
+1002 more
Copy number gain
See cases
GPathogenic
LOC132089359, LOC132089360
+614 more
Copy number gain
See cases
GPathogenic
ACAT2, ADAT2
+865 more
Copy number gain
See cases
GPathogenic
ADGB, ADGB-DT
+227 more
Copy number loss
See cases
GPathogenic
LOC115308161, LOC116183076
+288 more
Copy number loss
See cases
GPathogenic
LOC123881343, LOC123881344
+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
(5 prime UTR 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
(S10F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
Estrogen resistance syndrome
+4 more
GBenign
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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
(G90D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ESR1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ESR1
(F97S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ESR1
(P99L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
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
(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
GLikely benign
ESR1
(Y18C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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)
Inborn genetic diseases
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
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
ESR1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ESR1
(S463P +2 more)
Single nucleotide variant
(missense variant +1 more)
Breast neoplasm
GPathogenic
ESR1
Single nucleotide variant
(synonymous variant +1 more)
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
(V534E +2 more)
Single nucleotide variant
(missense variant +2 more)
Breast neoplasm
GPathogenic
ESR1
(P535H +2 more)
Single nucleotide variant
(missense variant +2 more)
Breast neoplasm
GPathogenic
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