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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DONSON
(L49fs)
Duplication
(frameshift variant)
Microcephaly, short stature, and limb abnormalities
GPathogenic
DONSON
(F165S)
Single nucleotide variant
(missense variant)
Microcephaly, short stature, and limb abnormalities
+1 more
GPathogenic/Likely pathogenic
DONSON
(I307V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DONSON
(F214L)
Single nucleotide variant
(missense variant)
Microcephaly, short stature, and limb abnormalities
GUncertain significance
DONSON
(I382M)
Single nucleotide variant
(missense variant)
Microcephaly, short stature, and limb abnormalities
GLikely benign
DONSON
Single nucleotide variant
(splice donor variant)
Microcephaly, short stature, and limb abnormalities
GPathogenic
Microcephaly, short stature, and limb abnormalities
GLikely pathogenic
DONSON
(K419*)
Duplication
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
DONSON
(W228*)
Single nucleotide variant
(nonsense)
Microcephaly, short stature, and limb abnormalities
GPathogenic
DONSON
(S28R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DONSON
(K489T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
DONSON
(F292L)
Single nucleotide variant
(missense variant)
Microcephaly, short stature, and limb abnormalities
GPathogenic
DONSON
(Q428*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DONSON
Deletion
(inframe_deletion)
Microcephaly, short stature, and limb abnormalities
GPathogenic
DONSON
(K489T +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly, short stature, and limb abnormalities
GPathogenic
DONSON
Single nucleotide variant
(intron variant)
Microcephaly-micromelia syndrome
GLikely pathogenic
DONSON
(M446T)
Single nucleotide variant
(missense variant)
Microcephaly, short stature, and limb abnormalities
GPathogenic
DONSON
Single nucleotide variant
(intron variant)
Microcephaly-micromelia syndrome
+3 more
GConflicting classifications of pathogenicity
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