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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC9
(V1525fs)
Insertion
(frameshift variant +1 more)
Hypertrichotic osteochondrodysplasia Cantu type
+4 more
GConflicting classifications of pathogenicity
ABCC9
(R1116H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+1 more
GPathogenic
ABCC9
(R1095C +1 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 12
+2 more
GUncertain significance
ABCC9
(M977fs +1 more)
Duplication
(frameshift variant)
Atrial fibrillation, familial, 12
+2 more
GUncertain significance
ABCC9
(F555S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+1 more
GConflicting classifications of pathogenicity
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