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Links from MedGen

Items: 1 to 100 of 486

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR35
(Y1094C +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
(S59fs)
Deletion
(frameshift variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GPathogenic
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GBenign
WDR35
(Q537* +1 more)
Single nucleotide variant
(nonsense)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GPathogenic
WDR35
(P410S +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
(L663V +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant +1 more)
Cranioectodermal dysplasia 2
+1 more
GLikely pathogenic
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
(W452* +1 more)
Single nucleotide variant
(nonsense)
Cranioectodermal dysplasia 2
+1 more
GPathogenic
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Indel
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(Y518* +1 more)
Single nucleotide variant
(nonsense)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GPathogenic
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
(M1143L +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
(D841N +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
(Y1094F +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Microsatellite
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
LOC129933186, WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
(A1005S +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+2 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Deletion
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GPathogenic
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Duplication
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GBenign
WDR35
(R353H)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(L1163R +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(M731V +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
(W123R)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
WDR35-related disorder
+2 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
(A665V +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
(V220L)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
(A435T +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
(M742I +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
(G1161S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Microsatellite
(splice donor variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
(R755T +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(splice donor variant)
Cranioectodermal dysplasia 2
+1 more
GLikely pathogenic
WDR35
(D126N)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(I552L +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
LOC129933186, WDR35
(Q853H +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
(I210T)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(K1050N +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(M239I)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(R148C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
WDR35
(K712R +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
LOC129933186, WDR35
(I862V +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely benign
WDR35
(C1158R +1 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
(P291L)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(splice acceptor variant)
Short-rib thoracic dysplasia 7 with or without polydactyly
+1 more
GLikely pathogenic
WDR35
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
WDR35
Indel
(intron variant)
Cranioectodermal dysplasia 2
+1 more
GUncertain significance
WDR35
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 2
+1 more
GLikely benign
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