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Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AVPR2
(P217S)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
(C192S)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
Deletion
(frameshift variant)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(Q174H)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GLikely pathogenic
AVPR2
(V332fs)
Duplication
(frameshift variant +2 more)
Diabetes insipidus, nephrogenic, X-linked
GLikely pathogenic
AVPR2
(W156*)
Single nucleotide variant
(nonsense)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(R106C)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GConflicting classifications of pathogenicity
AVPR2
(R202C)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
+2 more
GPathogenic/Likely pathogenic
AVPR2
(V270fs)
Microsatellite
(frameshift variant +1 more)
AVPR2-related disorder
GPathogenic
AVPR2
(M272V)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GLikely pathogenic
AVPR2
(R337Q)
Single nucleotide variant
(missense variant +2 more)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GUncertain significance
AVPR2
(S171R)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GPathogenic/Likely pathogenic
AVPR2
(V279del)
Microsatellite
(inframe_deletion +1 more)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GPathogenic/Likely pathogenic
AVPR2
Duplication
(frameshift variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
Single nucleotide variant
(synonymous variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
(G257S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
AVPR2
(R248C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AVPR2
(G245A)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GLikely benign
AVPR2
(V162A)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GConflicting classifications of pathogenicity
AVPR2
(R143H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GBenign
AVPR2
Single nucleotide variant
(non-coding transcript variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GBenign
AVPR2
(R139H)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GBenign
AVPR2
(R106H)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GBenign
AVPR2
(R104H)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GBenign
AVPR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
(R27S)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
(M272I)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GLikely pathogenic
AVPR2
(V262M)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
Microsatellite
(inframe_deletion)
not specified
+2 more
GConflicting classifications of pathogenicity
AVPR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
AVPR2
Single nucleotide variant
(synonymous variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GBenign
AVPR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
AVPR2
Single nucleotide variant
(synonymous variant)
Diabetes insipidus, nephrogenic, X-linked
+2 more
GBenign/Likely benign
AVPR2
Single nucleotide variant
(synonymous variant)
Diabetes insipidus, nephrogenic, X-linked
+3 more
GBenign/Likely benign
AVPR2
Deletion
(inframe_deletion +1 more)
Diabetes insipidus, nephrogenic, X-linked
+2 more
GConflicting classifications of pathogenicity
AVPR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AVPR2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
AVPR2
Single nucleotide variant
(synonymous variant)
Diabetes insipidus, nephrogenic, X-linked
+2 more
GBenign/Likely benign
AVPR2
Single nucleotide variant
(synonymous variant +2 more)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GBenign
AVPR2
(Y128S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
AVPR2
(Y128del)
Deletion
(inframe_deletion)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GPathogenic/Likely pathogenic
AVPR2
(L168R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AVPR2
(R247H)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
+2 more
GBenign/Likely benign
AVPR2
(V266A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
AVPR2
(A9fs)
Deletion
(frameshift variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(M120T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AVPR2
(W293*)
Single nucleotide variant
(nonsense +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(R149C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
AVPR2
(C112F)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GLikely pathogenic
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GBenign
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GBenign
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
Single nucleotide variant
(3 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GBenign/Likely benign
AVPR2
(G352D)
Single nucleotide variant
(missense variant +2 more)
Diabetes insipidus, nephrogenic, X-linked
+3 more
GBenign/Likely benign
AVPR2
(R252W)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GBenign/Likely benign
AVPR2
(V215M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
AVPR2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
AVPR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
AVPR2
(A42V)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
+1 more
GBenign
AVPR2
(T7S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
AVPR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
(W296R)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GUncertain significance
AVPR2
(W323fs)
Deletion
(frameshift variant +2 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
AVPR2
Single nucleotide variant
(synonymous variant +2 more)
Diabetes insipidus, nephrogenic, X-linked
+3 more
GBenign
AVPR2
(A147V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
AVPR2
(G12E)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
+2 more
GBenign
AVPR2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
AVPR2
Single nucleotide variant
(synonymous variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
+3 more
GBenign/Likely benign
AVPR2
(I130F)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(R251fs)
Deletion
(frameshift variant +1 more)
Nephrogenic syndrome of inappropriate antidiuresis
+2 more
GLikely pathogenic
AVPR2
(R104C)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
+2 more
GLikely pathogenic
AVPR2
(I46K)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(F105V)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(R181C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
AVPR2
(R137H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
AVPR2
(L35fs)
Deletion
(frameshift variant)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(R247fs)
Duplication
(frameshift variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(G201D)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(D85N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
AVPR2
(R337*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
AVPR2
(Y280C)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
AVPR2
(W71*)
Single nucleotide variant
(nonsense)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(I228fs)
Insertion
(frameshift variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(R113W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
AVPR2
(R203C)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(Y205C)
Single nucleotide variant
(missense variant +1 more)
Nephrogenic diabetes insipidus
GPathogenic
AVPR2
(G185C)
Single nucleotide variant
(missense variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(A132D)
Single nucleotide variant
(missense variant)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
AVPR2
(R247fs)
Deletion
(frameshift variant +1 more)
Diabetes insipidus, nephrogenic, X-linked
GPathogenic
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