U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DVL3
(Q301H)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 3
GUncertain significance
DVL3
(E98fs)
Deletion
(frameshift variant)
Autosomal dominant Robinow syndrome 3
GLikely pathogenic
DVL3
(R580C)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 3
GUncertain significance
DVL3
(H650fs)
Microsatellite
(frameshift variant)
Autosomal dominant Robinow syndrome 3
GUncertain significance
DVL3
(R317Q)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 3
+1 more
GUncertain significance
DVL3
(Y491*)
Single nucleotide variant
(nonsense)
Autosomal dominant Robinow syndrome 3
GLikely pathogenic
DVL3
Deletion
(splice acceptor variant)
Autosomal dominant Robinow syndrome 3
GLikely pathogenic
DVL3
(S236G)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 3
GUncertain significance
DVL3
(A374T)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 3
GUncertain significance
DVL3
(D584fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DVL3
Single nucleotide variant
(splice acceptor variant)
Autosomal dominant Robinow syndrome 3
GLikely pathogenic
DVL3
(P531fs)
Deletion
(frameshift variant)
Autosomal dominant Robinow syndrome 3
GPathogenic
FZD2
(G434V)
Single nucleotide variant
(missense variant)
Autosomal dominant Robinow syndrome 3
GLikely pathogenic
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
Format
Items per page
Sort by
Choose Destination