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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT57
(A155S)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome 18
GUncertain significance
IFT57
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome 18
+1 more
GBenign
IFT57
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome 18
GLikely pathogenic
IFT57
(M390V)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome 18
GUncertain significance
IFT57
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome 18
GPathogenic
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