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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NIN
(E1231K +1 more)
Single nucleotide variant
(missense variant)
Seckel syndrome 7
GUncertain significance
NIN
(S1214fs +1 more)
Microsatellite
(frameshift variant)
Seckel syndrome 7
GUncertain significance