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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937944, LOC129937945
+630 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
GFM1, IQCJ
+19 more
Copy number gain
See cases
GUncertain significance
GFM1, LOC100287290
+13 more
Copy number loss
See cases
GUncertain significance
GFM1, LXN
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
GFM1, LXN
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
GFM1, LXN
(R214H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
GFM1, LXN
Copy number gain
See cases
GUncertain significance
PTX3, MIR1224
+220 more
Copy number gain
See cases
GPathogenic
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