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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG4
(A527V +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
GLikely pathogenic
COG4
Single nucleotide variant
(splice donor variant)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
GLikely pathogenic
COG4
(I129V +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
+1 more
GLikely benign
COG4
(Y534H +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+1 more
GUncertain significance
COG4
(R160C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
Single nucleotide variant
(intron variant)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+2 more
GBenign
COG4
(R121C +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
COG4
(E614* +2 more)
Single nucleotide variant
(nonsense +1 more)
COG4-congenital disorder of glycosylation
+2 more
GPathogenic
COG4
(G516R +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
GPathogenic
COG4
(G516R +2 more)
Single nucleotide variant
(missense variant +1 more)
COG4-congenital disorder of glycosylation
+3 more
GPathogenic
COG4
Single nucleotide variant
(intron variant)
COG4-congenital disorder of glycosylation
+2 more
GBenign/Likely benign
COG4
Single nucleotide variant
(synonymous variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+2 more
GBenign
COG4
Single nucleotide variant
(synonymous variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+2 more
GBenign
COG4
(T162I +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+2 more
GBenign
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