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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COG4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COG4
(R763H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
COG4
(Q587K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
COG4
(L404M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
COG4
Single nucleotide variant
(synonymous variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+2 more
GBenign
COG4
(R198C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GLikely benign
COG4
(I173T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COG4
(T162I +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
+2 more
GBenign
COG4
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
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