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Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC9
(A1513T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1O
+1 more
GLikely benign
ABCC9
Deletion
(intron variant)
Primary dilated cardiomyopathy
+4 more
GBenign/Likely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
+4 more
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
+1 more
GLikely benign
ABCC9
(R1154Q +1 more)
Single nucleotide variant
(missense variant)
ABCC9-related disorder
+3 more
GPathogenic
ABCC9
(R1154W +1 more)
Single nucleotide variant
(missense variant)
not provided
+18 more
GPathogenic/Likely pathogenic
ABCC9
(V1137I +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GBenign/Likely benign
ABCC9
(R1116C +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
ABCC9
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ABCC9
(N1074S +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
+2 more
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Hypertrichotic osteochondrodysplasia Cantu type
+5 more
GConflicting classifications of pathogenicity
ABCC9
(A536V +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
Single nucleotide variant
(intron variant)
Hypertrichotic osteochondrodysplasia Cantu type
+3 more
GBenign/Likely benign
ABCC9
(P486H +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1O
GUncertain significance
ABCC9
(V734I +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
Brugada syndrome
+6 more
GConflicting classifications of pathogenicity
ABCC9
(G684S +1 more)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ABCC9
(E629D +1 more)
Single nucleotide variant
(missense variant)
Conduction disorder of the heart
+6 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ABCC9
Single nucleotide variant
(no sequence alteration)
not specified
+4 more
GBenign
ABCC9
Duplication
(intron variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ABCC9
Deletion
(intron variant)
Dilated Cardiomyopathy, Dominant
+3 more
GConflicting classifications of pathogenicity
ABCC9
Deletion
(intron variant)
Dilated Cardiomyopathy, Dominant
+5 more
GBenign/Likely benign
ABCC9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ABCC9
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1O
GLikely benign
ABCC9
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GBenign
ABCC9
(R281Q)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1O
+2 more
GUncertain significance
ABCC9
Deletion
(intron variant)
Cardiomyopathy
+3 more
GBenign/Likely benign
ABCC9
Duplication
(intron variant)
not specified
+1 more
GBenign
ABCC9
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
ABCC9
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
ABCC9
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1O
+5 more
GConflicting classifications of pathogenicity
ABCC9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
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