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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CAV3, SSUH2
(R27Q)
Single nucleotide variant
(missense variant)
Distal myopathy, Tateyama type
+6 more
GPathogenic
LOC126861897, MHRT
+1 more
(R1712Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy
GPathogenic
LOC126861898, MYH7
(R870C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GLikely pathogenic
MYH7
(E525K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1S
+6 more
GPathogenic/Likely pathogenic
MYH7
(R453C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
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