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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT74
(R448H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 22
+4 more
GUncertain significance
IFT74
(A196V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IFT74
(E120*)
Single nucleotide variant
(nonsense)
Joubert syndrome 40
+1 more
GPathogenic/Likely pathogenic
IFT74
Deletion
(splice acceptor variant)
Joubert syndrome 40
GPathogenic
IFT74
(R51H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
IFT74
(P301L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
IFT74
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
IFT74
Single nucleotide variant
(nonsense)
Joubert syndrome 40
GLikely pathogenic
IFT74
Single nucleotide variant
(intron variant)
Joubert syndrome 40
GPathogenic
IFT74
(L31fs)
Deletion
(frameshift variant)
Joubert syndrome 40
GPathogenic
IFT74
Single nucleotide variant
(missense variant)
Joubert syndrome 40
+2 more
GPathogenic/Likely pathogenic
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