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Links from MedGen

Items: 1 to 100 of 135

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806529, PAX3
(P330fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
Single nucleotide variant
(splice acceptor variant)
Waardenburg syndrome type 1
GLikely pathogenic
LOC107980445, CCDC140
+1 more
Single nucleotide variant
(5 prime UTR variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(W273* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GPathogenic
PAX3
(S267R +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Single nucleotide variant
(splice acceptor variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(Q263H +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Single nucleotide variant
(splice donor variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(Q263fs +1 more)
Duplication
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(Y242* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GPathogenic
CCDC140, PAX3
(R22fs)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(L214fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(Q199fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(R194fs +1 more)
Microsatellite
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(A176fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
Single nucleotide variant
(splice donor variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(E119* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GPathogenic
PAX3
(E118D +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(I117fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(V113fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(H80Q)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(S79C)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(I72F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(I72V)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(G66R)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(K58del)
Deletion
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(H57fs)
Duplication
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
LOC126806529, PAX3
(C354* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GLikely pathogenic
LOC126806529, PAX3
(V338fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Single nucleotide variant
(splice acceptor variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Single nucleotide variant
(splice acceptor variant)
Waardenburg syndrome type 1
+3 more
GPathogenic/Likely pathogenic
PAX3
(A236P +1 more)
Single nucleotide variant
(missense variant)
Craniofacial-deafness-hand syndrome
+3 more
GUncertain significance
PAX3
Single nucleotide variant
(splice acceptor variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(G417fs +1 more)
Deletion
(intron variant +1 more)
Waardenburg syndrome type 1
GPathogenic
PAX3
(V78M)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
Single nucleotide variant
(splice acceptor variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(E175fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(R269H +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(R144* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(A170D +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GUncertain significance
PAX3
(S200* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(H80Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX3
(Q229K +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
ACSL3, AP1S3
+13 more
Copy number loss
Waardenburg syndrome type 1
GPathogenic
PAX3
(A227V +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+2 more
GUncertain significance
PAX3
(K256fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(F237S +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(R269P +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(R236H +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GUncertain significance
LOC126806529, PAX3
(S345P +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PAX3
(R68W)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GLikely pathogenic
PAX3
Single nucleotide variant
(splice donor variant +1 more)
Waardenburg syndrome type 1
GPathogenic
PAX3
(G94V)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(N124fs +1 more)
Microsatellite
(frameshift variant)
Waardenburg syndrome
GPathogenic
POLR2F, SOX10
(M90fs)
Deletion
(frameshift variant +1 more)
Waardenburg syndrome type 1
+1 more
GPathogenic
POLR2F, SOX10
(S100fs)
Insertion
(frameshift variant +1 more)
Waardenburg syndrome type 1
GPathogenic
POLR2F, SOX10
(L141P)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 1
GLikely pathogenic
POLR2F, SOX10
(M112I)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 1
GPathogenic
POLR2F, SOX10
(A123fs)
Deletion
(frameshift variant +1 more)
Waardenburg syndrome type 1
GPathogenic
POLR2F, SOX10
(M112T)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(N124fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(R56C)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(G42fs)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(Q487*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Waardenburg syndrome type 1
GPathogenic
PAX3
(G48fs)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
EPHA4, PAX3
Copy number loss
Waardenburg syndrome type 1
GPathogenic
PAX3
(E308fs +1 more)
Duplication
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(L251P +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(R235S +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(T223I +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
Deletion
(nonsense)
Waardenburg syndrome type 1
GPathogenic
PAX3
(G81R)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(Y90*)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
PAX3
(G43C)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
POLR2F, SOX10
(S394fs)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
PAX3
(H80R)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Single nucleotide variant
(3 prime UTR variant +2 more)
Waardenburg syndrome type 1
GUncertain significance
LOC126806529, PAX3
(T359fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(S459fs +1 more)
Duplication
(frameshift variant +1 more)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(S426* +1 more)
Single nucleotide variant
(nonsense +1 more)
Waardenburg syndrome type 1
GLikely pathogenic
LOC126806529, PAX3
(Q341* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(S307fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(R273K +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GUncertain significance
PAX3
(R271C +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+2 more
GPathogenic
PAX3
(R270C +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GPathogenic
PAX3
(Q264P +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(P244S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PAX3
(L231P +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Insertion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(E176fs +1 more)
Duplication
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(K161fs +1 more)
Indel
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX3
(P98L)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GUncertain significance
PAX3
(Y90C)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(C82*)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(V78L)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(L76R)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GUncertain significance
PAX3
(S73L)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GPathogenic
PAX3
(C70*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
PAX3
(I46fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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