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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AVP
(C116G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
AVP
(E113*)
Single nucleotide variant
(nonsense)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(C98*)
Single nucleotide variant
(nonsense)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(G96V)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
+1 more
GConflicting classifications of pathogenicity
AVP
(G93W)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(C92Y)
Single nucleotide variant
(missense variant)
AVP-related disorder
GLikely pathogenic
AVP
(G88S)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(S87F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AVP
(E78del)
Microsatellite
(inframe_deletion)
Neurohypophyseal diabetes insipidus
GConflicting classifications of pathogenicity
AVP
(V67A)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(G54V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
AVP
(G54R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AVP
(G48V)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(F22del)
Deletion
(inframe_deletion)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(Y21H)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(A19V)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
GPathogenic
AVP
(A19T)
Single nucleotide variant
(missense variant)
Neurohypophyseal diabetes insipidus
+1 more
GPathogenic
AVP
(P7L)
Single nucleotide variant
(missense variant)
Diabetes insipidus, neurohypophyseal, autosomal recessive
GPathogenic
AVP
(M1fs)
Deletion
(frameshift variant +1 more)
Neurohypophyseal diabetes insipidus
GPathogenic
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