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Items: 1 to 100 of 399

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
AAAS, AMHR2
+85 more
Copy number gain
See cases
GLikely pathogenic
AAAS, AMHR2
+74 more
Copy number loss
See cases
GPathogenic
AAAS, AMHR2
+114 more
Copy number loss
See cases
GPathogenic
AAAS, LOC130007972
+3 more
Deletion
Glucocorticoid deficiency with achalasia
GPathogenic
AAAS
Single nucleotide variant
not provided
GBenign
AAAS
Single nucleotide variant
not provided
GBenign
AAAS
Single nucleotide variant
Glucocorticoid deficiency with achalasia
GLikely benign
AAAS
Microsatellite
(3 prime UTR variant)
not provided
GLikely benign
AAAS
Duplication
(frameshift variant +1 more)
not specified
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(G500E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
(G533R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(L531F +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency with achalasia
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(A526G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AAAS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AAAS
(T486P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
(F485L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(A506G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AAAS
(R500W +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency with achalasia
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(R460H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AAAS
(Q490* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(L484V +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency with achalasia
GUncertain significance
AAAS
(P450fs +1 more)
Deletion
(frameshift variant)
Glucocorticoid deficiency with achalasia
GUncertain significance
AAAS
(P483L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(R445L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
(R445P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AAAS
(R478* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder
+2 more
GPathogenic
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
Glucocorticoid deficiency with achalasia
GUncertain significance
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Deletion
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AAAS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(T459I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
(Q423fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(P422L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AAAS
(Q421fs +1 more)
Duplication
(frameshift variant)
Glucocorticoid deficiency with achalasia
GPathogenic
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
AAAS
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
AAAS
(L441fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(P404fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(S403N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(R434Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AAAS
(R434* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(R399H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
(L430F +1 more)
Single nucleotide variant
(missense variant)
Achalasia-alacrima syndrome
GPathogenic
AAAS
(Q389fs +1 more)
Deletion
(frameshift variant)
Glucocorticoid deficiency with achalasia
GPathogenic
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(Q389E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AAAS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AAAS
(M415T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AAAS
(L381F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(A412T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
(R377H +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency with achalasia
GUncertain significance
AAAS
(R377C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAAS
(G375E +1 more)
Single nucleotide variant
(missense variant)
Glucocorticoid deficiency with achalasia
GUncertain significance
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AAAS
(E365fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
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