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Links from MedGen

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WNT5A
(N38Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
(Q282R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
(L14fs)
Deletion
(5 prime UTR variant +1 more)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Single nucleotide variant
(intron variant)
Autosomal dominant Robinow syndrome 1
+1 more
GLikely benign
WNT5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
WNT5A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
WNT5A
(I7T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
WNT5A
(E313K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DVL1
(R128C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
WNT5A
(M135V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WNT5A
(A82V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
+1 more
GUncertain significance
WNT5A
(N170S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WNT5A
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
WNT5A
(T229A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
+1 more
GUncertain significance
WNT5A
(C54F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
WNT5A
Single nucleotide variant
(synonymous variant)
Autosomal dominant Robinow syndrome 1
+1 more
GUncertain significance
WNT5A
(E212K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DVL1
(N460S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
WNT5A
(D360N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WNT5A
(G168S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
(C68G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GLikely pathogenic
WNT5A
(C139F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
(C68Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FZD2
(F130fs)
Duplication
(frameshift variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
WNT5A
(V24L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
+1 more
GUncertain significance
DVL1
(S537fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant Robinow syndrome 1
GLikely pathogenic
DVL1
Deletion
(stop lost)
Autosomal dominant Robinow syndrome 1
GUncertain significance
DVL1
(A91V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
WNT5A
(A168T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
WNT5A
Single nucleotide variant
(synonymous variant)
Autosomal dominant Robinow syndrome 1
+1 more
GLikely benign
DVL1
(R145W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DVL3
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
FZD2
(W548*)
Single nucleotide variant
not provided
+2 more
GPathogenic
FZD2
(G434S)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 2
GLikely pathogenic
WNT5A
(S160C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GLikely pathogenic
WNT5A
Duplication
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
DVL1
(T431A +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GLikely benign
ROR2
Microsatellite
(3 prime UTR variant)
Brachydactyly
+2 more
GBenign
ROR2
Single nucleotide variant
(3 prime UTR variant)
Brachydactyly
+1 more
GLikely benign
WNT5A
Deletion
(genic upstream transcript variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Single nucleotide variant
(synonymous variant)
WNT5A-related disorder
+2 more
GBenign/Likely benign
WNT5A
Microsatellite
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Microsatellite
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Microsatellite
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Microsatellite
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GLikely benign
WNT5A
Deletion
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT5A
Duplication
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT5A
Duplication
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT5A
Deletion
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Deletion
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Deletion
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Deletion
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Duplication
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Microsatellite
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Duplication
(3 prime UTR variant)
Autosomal dominant Robinow syndrome 1
GBenign
WNT5A
(I5T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
DVL3
(S583fs)
Deletion
(frameshift variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
DVL3
(S573fs)
Deletion
(frameshift variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
DVL3
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant Robinow syndrome 3
+1 more
GPathogenic/Likely pathogenic
DVL3
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
DVL3
(A529fs)
Deletion
(frameshift variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
DVL1
(P521fs +1 more)
Deletion
(frameshift variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
WNT5A
(C167S)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
Gnot provided
WNT5A
(C69Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
(Y86C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
WNT5A
(G163R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT5A
Single nucleotide variant
(intron variant)
Autosomal dominant Robinow syndrome 1
GUncertain significance
WNT5A
Single nucleotide variant
(intron variant)
Autosomal dominant Robinow syndrome 1
+2 more
GConflicting classifications of pathogenicity
WNT5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
WNT5A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ROR2
(V819I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
WNT5A
(C83S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
WNT5A
(C182R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 1
GPathogenic
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