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Links from Gene

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMGB1
(E194fs)
Deletion
(frameshift variant +1 more)
HMGB1-related Developmental delay and microcephaly
GUncertain significance
HMGB1
(T136fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic