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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(G422R)
Single nucleotide variant
(missense variant)
Elevated circulating creatine kinase concentration
+6 more
GConflicting classifications of pathogenicity
LAMA2
Single nucleotide variant
(intron variant)
LAMA2-related muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
SLC2A1
(Q469H)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+13 more
GUncertain significance
DMD
(Q52fs +2 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 3B
+9 more
GLikely pathogenic
RYR1
(R1667H)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+10 more
GUncertain significance
RYR1
(R3867C +1 more)
Single nucleotide variant
(missense variant)
Myalgia
+8 more
GConflicting classifications of pathogenicity
LAMA2
(R2319*)
Single nucleotide variant
(nonsense)
Elevated circulating creatine kinase concentration
+5 more
GPathogenic
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