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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861897, MHRT
+1 more
(L1612P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
+1 more
GLikely pathogenic
MHRT, MYH7
(L1484P)
Single nucleotide variant
(non-coding transcript variant +1 more)
MYH7-related skeletal myopathy
+1 more
GUncertain significance
MYH7
(R694C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
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