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Links from OMIM

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYPN
(Q529* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cardiomyopathy, familial restrictive, 4
GPathogenic
MYOZ2
(I246M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GBenign/Likely benign
MYOZ2
(S48P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 16
GLikely pathogenic
CSRP3
(K69R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
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