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Links from MedGen

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT43
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GLikely benign
IFT43
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 3
+3 more
GLikely benign
IFT43
(R12C)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
IFT43
(L11F)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
(E108K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
IFT43
(R59Q)
Single nucleotide variant
(missense variant +1 more)
Cranioectodermal dysplasia 3
+3 more
GUncertain significance
IFT43
(A162V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
(R168W +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
(T201M +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 3
+3 more
GBenign
IFT43
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
IFT43
(R128Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GLikely benign
IFT43
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 3
+3 more
GLikely benign
IFT43
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
IFT43
(G173S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
IFT43
(A202V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
IFT43
(L157I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
IFT43
(F180L +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
(P121S +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
(A31P)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
(E166D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
IFT43
(D153E +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GUncertain significance
IFT43
(Q195* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cranioectodermal dysplasia 3
+3 more
GUncertain significance
IFT43
(R133H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
IFT43
(Y132F +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GConflicting classifications of pathogenicity
IFT43
(K78R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
IFT43
(D6H)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+4 more
GUncertain significance
IFT43
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 3
+3 more
GLikely benign
IFT43
Deletion
(intron variant)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GBenign/Likely benign
IFT43
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 3
+3 more
GBenign
IFT43
Single nucleotide variant
(synonymous variant +1 more)
Cranioectodermal dysplasia 3
+3 more
GLikely benign
IFT43
Duplication
(intron variant)
not provided
+3 more
GBenign/Likely benign
IFT43
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 18 with polydactyly
+3 more
GLikely benign
IFT43
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
IFT43
Deletion
(splice donor variant)
Cranioectodermal dysplasia 3
GUncertain significance
IFT43
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
IFT43
(A31V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
IFT43
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
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