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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+224 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+463 more
Copy number loss
See cases
GPathogenic
LOC130059883, LOC130059884
+922 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+144 more
Copy number loss
See cases
GLikely pathogenic
TRARG1, TRPV1
+651 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+84 more
Copy number gain
See cases
GLikely pathogenic
ABR, ABR-AS1
+102 more
Copy number loss
See cases
GLikely pathogenic
ABR, ABR-AS1
+498 more
Copy number loss
See cases
GPathogenic
DOC2B, LINC02091
+2 more
Copy number loss
Premature ovarian failure
GUncertain significance
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
DOC2B, GEMIN4
+35 more
Copy number loss
See cases
GUncertain significance
GEMIN4, GLOD4
+39 more
Copy number loss
See cases
GUncertain significance
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