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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806173, IFT172
(R1225Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
NEK1
Single nucleotide variant
(splice donor variant)
Asphyxiating thoracic dystrophy 1
GUncertain significance
NEK1
(L1137P +6 more)
Single nucleotide variant
(missense variant +1 more)
Asphyxiating thoracic dystrophy 1
GUncertain significance
DYNC2H1
(L156I)
Single nucleotide variant
(missense variant)
Jeune thoracic dystrophy
GUncertain significance
IFT140
Microsatellite
(inframe_deletion)
Saldino-Mainzer syndrome
+1 more
GConflicting classifications of pathogenicity
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
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