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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AVP
(A159T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AVP
(F156C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(G140R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(G137R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(G137R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(R123H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(R122H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AVP
(E118V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(E118A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(T112I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(G68R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(G47R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(P43A)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
+2 more
GBenign/Likely benign
AVP
(Q40E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AVP
(E37Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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