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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
LOC125146428, LOC125146429
+400 more
Copy number gain
See cases
GPathogenic
ARL6IP1, CLEC19A
+24 more
Copy number gain
See cases
GUncertain significance
CLEC19A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CLEC19A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCP110, CLEC19A
+9 more
Copy number gain
not provided
GUncertain significance
ABAT, ABCC1
+226 more
Copy number gain
not provided
GPathogenic
ABAT, ABCC1
+252 more
Copy number gain
See cases
GPathogenic
ABAT, ABCC1
+250 more
Copy number gain
Microcephaly
GPathogenic
ACSM1, ACSM2A
+128 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+295 more
Copy number gain
See cases
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
PRSS27, PRSS33
+263 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ALG1, BICDL2
+388 more
Complex
Hemimegalencephaly
GPathogenic
CCP110, CLEC19A
+6 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+384 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
ABAT, ABCA3
+330 more
Copy number gain
See cases
GPathogenic
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