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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF407
(T1253M)
Single nucleotide variant
(missense variant)
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
GUncertain significance
ZNF407
(R428C)
Single nucleotide variant
(missense variant)
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
GUncertain significance
ZNF407
Single nucleotide variant
(missense variant)
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
GPathogenic
LOC126862798, ZNF407
Duplication
(inframe_insertion)
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
+1 more
GPathogenic
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