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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM16
(C178*)
Single nucleotide variant
(nonsense)
Left ventricular noncompaction 8
GPathogenic
PRDM16
(L1048fs)
Deletion
(frameshift variant)
Left ventricular noncompaction 8
GLikely pathogenic
MEGF6, MIB2
+71 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ANKRD65, ARHGEF16
+97 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACTRT2, AJAP1
+41 more
Copy number gain
not provided
GPathogenic
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