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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
LOC126806529, PAX3
(S345P +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 3
+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 type 1
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)
not provided
+1 more
GPathogenic
PAX3
(R270C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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
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
PAX3
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAX3
(I86F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(Y410* +1 more)
Single nucleotide variant
(nonsense +1 more)
Waardenburg syndrome type 1
GPathogenic
MITF
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
PAX3
(F294fs +1 more)
Duplication
(frameshift variant)
Waardenburg syndrome type 1
+3 more
GPathogenic
PAX3
(S180R +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
PAX3
(E194K +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
PAX3
(R223* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
PAX3
(H399D +1 more)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 1
GLikely benign
PAX3
(G48R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PAX3
(S155fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(Q264* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
Deletion
(inframe_deletion)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(G42R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
PAX3
(Y242fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GLikely pathogenic
PAX3
(G48C)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GConflicting classifications of pathogenicity
PAX3
(R262* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PAX3
(R271H +1 more)
Single nucleotide variant
(missense variant)
Alveolar rhabdomyosarcoma
+4 more
GPathogenic
PAX3
(K139* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 1
GPathogenic
PAX3
(K175N +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
PAX3
(T315K +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome
+5 more
GConflicting classifications of pathogenicity
PAX3
Single nucleotide variant
(synonymous variant)
Waardenburg syndrome
+5 more
GBenign
PAX3
(G81C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAX3
(H186fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(H80D)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(R56L)
Single nucleotide variant
(missense variant)
Waardenburg syndrome
+1 more
GPathogenic/Likely pathogenic
PAX3
(S84F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GPathogenic
PAX3
(K122fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(G81A)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PAX3
(H185fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
PAX3
(R97fs)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(Y90fs)
Deletion
(frameshift variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
(P50L)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
GPathogenic
PAX3
Deletion
(inframe_deletion)
Waardenburg syndrome type 1
GPathogenic
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