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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHD4
(V961fs +2 more)
Microsatellite
(frameshift variant)
Sifrim-Hitz-Weiss syndrome
GLikely pathogenic
CHD4
(S870F +2 more)
Single nucleotide variant
(missense variant)
Sifrim-Hitz-Weiss syndrome
GLikely pathogenic