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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAMTS2, ARL10
+676 more
Copy number gain
See cases
GPathogenic
LOC129995246, LOC129995247
+622 more
Copy number gain
See cases
GPathogenic
ATP6V0E1, BNIP1
+91 more
Copy number loss
See cases
GPathogenic
ATP6V0E1, BNIP1
+81 more
Copy number loss
See cases
GPathogenic
ATP6V0E1, CREBRF
+6 more
Deletion
not provided
GPathogenic
ATP6V0E1, BNIP1
+8 more
Deletion
Atrial septal defect 7
GPathogenic
ARL10, ATP6V0E1
+37 more
Copy number loss
not provided
GPathogenic
ATP6V0E1, BNIP1
+8 more
Deletion
Atrial septal defect 7
GPathogenic
ATP6V0E1, BNIP1
+9 more
Duplication
not provided
GUncertain significance
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAMTS2, ARL10
+117 more
Copy number gain
See cases
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
ATP6V0E1, BNIP1
+35 more
Copy number loss
not specified
GPathogenic
ADAMTS2, ARL10
+115 more
Copy number gain
5q35 microduplication syndrome
GPathogenic
SPDL1, TENM2
+37 more
Copy number loss
Atrial septal defect 7
GPathogenic
ADAMTS2, ARL10
+106 more
Copy number gain
See cases
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
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