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Links from MedGen

Items: 1 to 100 of 334

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Duplication
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GBenign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(Q870* +3 more)
Single nucleotide variant
(nonsense +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GPathogenic
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Duplication
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GBenign
CEP120
Deletion
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(non-coding transcript variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(splice donor variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely pathogenic
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(A38V +1 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(splice donor variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely pathogenic
CEP120
(C637V +3 more)
Indel
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(G430V +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Insertion
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(splice donor variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely pathogenic
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Deletion
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(K602* +3 more)
Single nucleotide variant
(nonsense +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GPathogenic
CEP120
Single nucleotide variant
(splice donor variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely pathogenic
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Insertion
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(I232V +2 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Deletion
(non-coding transcript variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GBenign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(R857H +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(non-coding transcript variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(R756C +3 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Duplication
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(T452R +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(Q240R +2 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(R591C +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(V536A +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(R711C +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(T648M +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(V390M +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(N299S +2 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
+1 more
GUncertain significance
CEP120
(L367F +2 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(synonymous variant +2 more)
CEP120-related condition
+1 more
GLikely benign
CEP120
(S193Y +2 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(V70I +1 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(D751N +3 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(R529C +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(splice acceptor variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely pathogenic
CEP120
Single nucleotide variant
(synonymous variant +1 more)
CEP120-related condition
+1 more
GLikely benign
CEP120
(P109S +1 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(K123M +1 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(T187P +1 more)
Single nucleotide variant
(missense variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(G255E +2 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
(I820V +3 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(H26Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
Single nucleotide variant
(synonymous variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
CEP120
(A32T +1 more)
Single nucleotide variant
(5 prime UTR variant +2 more)
Short-rib thoracic dysplasia 13 with or without polydactyly
GUncertain significance
CEP120
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 13 with or without polydactyly
GLikely benign
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