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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC2LI1, ABCG5
(A447V)
Single nucleotide variant
(missense variant +1 more)
Sitosterolemia 2
+1 more
GUncertain significance
ABCG5, DYNC2LI1
(I193fs)
Deletion
(3 prime UTR variant +1 more)
Sitosterolemia 2
+1 more
GLikely pathogenic
DYNC2LI1
(D310E +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 15 with polydactyly
GUncertain significance
DYNC2LI1
(F109Y)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 15 with polydactyly
GUncertain significance
DYNC2LI1
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 15 with polydactyly
GUncertain significance
DYNC2LI1
(L255P +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 15 with polydactyly
GUncertain significance
DYNC2LI1
(F33S)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 15 with polydactyly
+1 more
GBenign
DYNC2LI1
(W7fs)
Microsatellite
(frameshift variant)
Short-rib thoracic dysplasia 15 with polydactyly
GPathogenic
DYNC2LI1
(L6F)
Single nucleotide variant
(missense variant)
DYNC2LI1-related condition
+1 more
GLikely benign
DYNC2LI1
Deletion
(intron variant)
Short-rib thoracic dysplasia 15 with polydactyly
GPathogenic
DYNC2LI1
(G42fs)
Insertion
(frameshift variant)
Short-rib thoracic dysplasia 15 with polydactyly
GPathogenic
DYNC2LI1
Deletion
(frameshift variant)
Short-rib thoracic dysplasia 15 with polydactyly
GPathogenic
DYNC2LI1
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
DYNC2LI1
(T221I +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DYNC2LI1
(R208* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DYNC2LI1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 1
+1 more
GPathogenic
ABCG5, DYNC2LI1
(E334* +1 more)
Single nucleotide variant
(nonsense +1 more)
Asphyxiating thoracic dystrophy 1
+1 more
GPathogenic
DYNC2LI1
(W124*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DYNC2LI1
(L117V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DYNC2LI1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
ABCG5, DYNC2LI1
(R446*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
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