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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMC1A
(C759R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
(Q369* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SMC1A
(K268del +1 more)
Microsatellite
(inframe_deletion)
Congenital muscular hypertrophy-cerebral syndrome
+6 more
GPathogenic
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