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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATAD1, LOC129998793
(G53R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 2B
+1 more
GUncertain significance
GATAD1, LOC129998793
(S55C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 2B
GUncertain significance
GATAD1
(I136V)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 2B
+1 more
GUncertain significance
GATAD1
(I137M)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 2B
+1 more
GUncertain significance
GATAD1
(R171K)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
GATAD1
(S193C)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 2B
+1 more
GUncertain significance
GATAD1
(A202T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 2B
+2 more
GUncertain significance
GATAD1
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 2B
+3 more
GBenign/Likely benign
GATAD1
(T256A)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 2B
+1 more
GUncertain significance
GATAD1
(P257L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
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