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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INTU
(R843C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
INTU, LOC123480930
(N787fs)
Microsatellite
(frameshift variant)
Short-rib thoracic dysplasia 20 with polydactyly
+1 more
GPathogenic
INTU
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 20 with polydactyly
+2 more
GBenign/Likely benign
INTU, LOC126807151
(N436*)
Duplication
(nonsense)
Orofaciodigital syndrome 17
+1 more
GLikely pathogenic
INTU
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome 17
+3 more
GBenign
INTU
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome 17
+3 more
GBenign
INTU
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 20 with polydactyly
+2 more
GBenign/Likely benign
INTU
(N132fs)
Deletion
(frameshift variant)
Mohr syndrome
+1 more
GPathogenic/Likely pathogenic
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