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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VIL1
(V258L)
Single nucleotide variant
(missense variant)
not provided
GBenign
VIL1
(N593K)
Single nucleotide variant
(missense variant)
not provided
GBenign
VIL1
(R630C)
Single nucleotide variant
(missense variant)
not provided
GBenign
VIL1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SPEG, TMEM198
+50 more
Duplication
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GUncertain significance
CNPPD1, DNAJB2
+39 more
Deletion
Desmin-related myofibrillar myopathy
GPathogenic
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