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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001681, SIGMAR1
(G31D)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 16
+3 more
GUncertain significance
LOC130001681, SIGMAR1
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign