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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAX3
(A227V +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+2 more
GUncertain significance
LOC126806529, PAX3
(S345P +1 more)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 3
+4 more
GUncertain significance
PAX3
(Q276* +1 more)
Single nucleotide variant
(nonsense)
Waardenburg syndrome type 3
GPathogenic
PAX3
(R155P +1 more)
Single nucleotide variant
(missense variant)
Craniofacial-deafness-hand syndrome
+1 more
GUncertain significance
PAX3
(C82W)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+2 more
GLikely pathogenic
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)
Waardenburg syndrome type 1
+2 more
GPathogenic
PAX3
(G48C)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GConflicting classifications of pathogenicity
PAX3
(R271H +1 more)
Single nucleotide variant
(missense variant)
Alveolar rhabdomyosarcoma
+4 more
GPathogenic
PAX3
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
PAX3
(Y90H)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 3
GPathogenic
PAX3
(F128fs +1 more)
Deletion
(frameshift variant)
Waardenburg syndrome type 3
GPathogenic
PAX3
(N47H)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 3
GPathogenic
PAX3
(S84F)
Single nucleotide variant
(missense variant)
Waardenburg syndrome type 1
+1 more
GPathogenic
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