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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMC1A
(C1158S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMC1A
(K668fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
SMC1A
(Q588R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
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