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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAF1A
(T147P +1 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 6
GUncertain significance
TAF1A
(G227R +1 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GUncertain significance
KIF20A
(Y637fs)
Deletion
(frameshift variant)
Cardiomyopathy, familial restrictive, 6
GPathogenic
KIF20A
(R182W)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 6
GPathogenic
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