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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMCO1
(G24S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
GLikely pathogenic
TMCO1
(G24R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
GPathogenic
TMCO1
(W41fs)
Deletion
(frameshift variant +2 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
GLikely pathogenic
TMCO1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
TMCO1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LOC130065793, RAB5IF
+1 more
(W25*)
Single nucleotide variant
(nonsense +2 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
+11 more
GPathogenic/Likely pathogenic
TMCO1
(S15F)
Single nucleotide variant
(5 prime UTR variant +2 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
GUncertain significance
TMCO1
(R206* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cerebro facio thoracic dysplasia
+20 more
GPathogenic
TMCO1
Microsatellite
(nonsense +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
TMCO1
(R114* +2 more)
Single nucleotide variant
(nonsense +1 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
+1 more
GPathogenic
TMCO1
Single nucleotide variant
(intron variant)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
GPathogenic
TMCO1
(V18fs)
Deletion
(frameshift variant +2 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
GPathogenic
TMCO1
(R138* +2 more)
Single nucleotide variant
(nonsense +1 more)
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
GPathogenic
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