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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC9
(N1538S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ABCC9
(V1525fs)
Insertion
(frameshift variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCC9
(L1524*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely benign
ABCC9
(L1524I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ABCC9
(V1319I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCC9
(M1198I +1 more)
Single nucleotide variant
(missense variant)
Hypertrichotic osteochondrodysplasia Cantu type
+5 more
GUncertain significance
ABCC9
(V1137I +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GBenign/Likely benign
ABCC9
(T1100I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCC9
(R938Q +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant +1 more)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
ABCC9
(P739A +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCC9
(V734I +1 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC9
(S689F +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+1 more
GUncertain significance
ABCC9
(G684S +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
ABCC9
(R661C +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+3 more
GUncertain significance
ABCC9
(E629D +1 more)
Single nucleotide variant
(missense variant)
Conduction disorder of the heart
+6 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ABCC9
(R96Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+2 more
GConflicting classifications of pathogenicity
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