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Items: 27

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
TRARG1, TRPV1
+651 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+498 more
Copy number loss
See cases
GPathogenic
SAT2, SCARF1
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC121848004, LOC121848005
+457 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+303 more
Copy number loss
See cases
GPathogenic
LOC130059962, LOC130059963
+197 more
Copy number loss
See cases
GPathogenic
LOC130059937, LOC130059938
+604 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+217 more
Copy number loss
See cases
GPathogenic
LOC130059869, LOC130059870
+243 more
Copy number loss
See cases
GPathogenic
LOC130059867, LOC130059868
+178 more
Copy number gain
See cases
GPathogenic
LOC130059930, LOC130059931
+352 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+180 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+168 more
Copy number gain
See cases
GPathogenic
INPP5K, CCDC92B
+164 more
Copy number gain
See cases
GPathogenic
LOC130059937, LOC130059938
+174 more
Copy number gain
See cases
GLikely pathogenic
CCDC92B, CLUH
+122 more
Copy number loss
See cases
GPathogenic
DPH1, HIC1
+90 more
Copy number gain
See cases
GUncertain significance
DPH1, HIC1
+94 more
Copy number loss
See cases
GPathogenic
CAMKK1, CAMTA2
+303 more
Copy number loss
See cases
GPathogenic
ASPA, ATP2A3
+166 more
Copy number gain
See cases
GPathogenic
CLUH, LOC105371490
+38 more
Copy number gain
See cases
GUncertain significance
LOC130059943, LOC130059944
+7 more
Copy number loss
See cases
GBenign
LOC111413025, LOC130059945
+25 more
Copy number loss
See cases
GLikely benign
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