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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH7
(E1914K)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GLikely pathogenic
MYH7
(E1856K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYH7
(L1793del)
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1S
+1 more
GPathogenic
LOC126861897, MHRT
+1 more
(K1729del)
Microsatellite
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GPathogenic
MHRT, MYH7
+1 more
(K1617del)
Microsatellite
(inframe_deletion +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC126861897, MHRT
+1 more
(R1560P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
MHRT, MYH7
(L1453P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GPathogenic
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