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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC3, ABI3
+203 more
Copy number loss
See cases
GPathogenic
CACNA1G, CACNA1G-AS1
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CACNA1G, CACNA1G-AS1
(E5del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
CACNA1G-AS1, CACNA1G
(M20T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNA1G, CACNA1G-AS1
(S26W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNA1G, CACNA1G-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
CACNA1G, CACNA1G-AS1
(S72N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNA1G, CACNA1G-AS1
Duplication
(intron variant)
not provided
GBenign
CACNA1G, CACNA1G-AS1
Insertion
(intron variant)
not provided
GBenign
CACNA1G, CACNA1G-AS1
Deletion
(intron variant)
not provided
GBenign
CACNA1G, CACNA1G-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
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