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Items: 1 to 100 of 515

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1, ATP8B4
+190 more
Copy number loss
See cases
GPathogenic
LOC130057143, LOC130057144
+287 more
Copy number loss
See cases
GPathogenic
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Duplication
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Insertion
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
MIR4713HG, PIRC66
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
PIRC66, CYP19A1
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
MIR4713HG, PIRC66
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Deletion
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
+1 more
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIRC66, CYP19A1
+1 more
(R499S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIRC66, CYP19A1
+1 more
(D498N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
Aromatase deficiency
+1 more
GConflicting classifications of pathogenicity
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MIR4713HG, PIRC66
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PIRC66, CYP19A1
+1 more
(S478F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
(V460M)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GUncertain significance
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
(R457Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MIR4713HG, CYP19A1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CYP19A1, MIR4713HG
+1 more
(C437Y)
Single nucleotide variant
(missense variant)
Aromatase deficiency
GPathogenic
CYP19A1, MIR4713HG
+1 more
(R435C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PIRC66, CYP19A1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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