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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCG2, ABRAXAS1
+335 more
Copy number loss
See cases
GPathogenic
LOC129992850, LOC129992851
+123 more
Copy number loss
See cases
GPathogenic
ABHD18, ADAD1
+661 more
Copy number gain
See cases
GPathogenic
ADH1A, ADH1B
+59 more
Copy number gain
See cases
GUncertain significance
H2AZ1
(R40G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADH1A, ADH1B
+34 more
Copy number loss
not specified
GPathogenic
ADH1A, ADH1B
+39 more
Copy number loss
not specified
GPathogenic
SPATA18, SPATA4
+537 more
Copy number gain
not provided
GPathogenic
BANK1, CISD2
+12 more
Copy number loss
not provided
GPathogenic
ADH1A, ADH1B
+55 more
Copy number gain
not provided
GLikely pathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
RAP1GDS1, UNC5C
+26 more
Copy number loss
not provided
GLikely pathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
ADH1A, ADH1B
+30 more
Copy number loss
See cases
GPathogenic
C4orf51, CABS1
+745 more
Copy number gain
See cases
GPathogenic
NAA11, NAA15
+745 more
Copy number gain
See cases
GPathogenic
HELT, HERC3
+744 more
Copy number gain
See cases
GPathogenic
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