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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA1
(G148V)
Single nucleotide variant
(missense variant)
Nemaline myopathy
+1 more
GLikely pathogenic
TTN
Single nucleotide variant
(intron variant +1 more)
Centronuclear myopathy
GPathogenic
TTN
Duplication
(nonsense)
Centronuclear myopathy
GPathogenic
RYR1
(V2275M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
RYR1
(R682G)
Single nucleotide variant
(missense variant)
Centronuclear myopathy
GLikely pathogenic
RYR1
Single nucleotide variant
(intron variant)
Malignant hyperthermia, susceptibility to, 1
+1 more
GUncertain significance
MTM1
Single nucleotide variant
(intron variant)
Centronuclear myopathy
GUncertain significance
TTN
(M11632fs +5 more)
Insertion
(frameshift variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
RYR1
(P1293T)
Single nucleotide variant
(missense variant)
RYR1-Related Disorders
+2 more
GConflicting classifications of pathogenicity
RYR1
Single nucleotide variant
(splice donor variant)
Centronuclear myopathy
+7 more
GConflicting classifications of pathogenicity
MTM1
(V327fs +1 more)
Duplication
(frameshift variant)
Severe X-linked myotubular myopathy
GPathogenic
TTN, TTN-AS1
Indel
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MTM1
(R421* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder
+3 more
GPathogenic
DNM2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(synonymous variant)
Centronuclear myopathy
+3 more
GConflicting classifications of pathogenicity
DNM2
(P627R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
DNM2
(L621P +1 more)
Single nucleotide variant
(missense variant)
Centronuclear myopathy
+1 more
GPathogenic
DNM2
Single nucleotide variant
(synonymous variant)
DNM2-related condition
+4 more
GConflicting classifications of pathogenicity
DNM2
(R522H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
DNM2
(V375E)
Single nucleotide variant
(missense variant)
Centronuclear myopathy
GLikely pathogenic
RYR1
(R4558Q +1 more)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
GUncertain significance
DNM2
(S619L +1 more)
Single nucleotide variant
(missense variant)
Fetal akinesia-cerebral and retinal hemorrhage syndrome
+3 more
GPathogenic/Likely pathogenic
DNM2
(E368K)
Single nucleotide variant
(missense variant)
DNM2-related condition
+5 more
GPathogenic
DNM2
(R465W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
DNM2
(R369W)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
+3 more
GPathogenic
DNM2
(R369Q)
Single nucleotide variant
(missense variant)
Centronuclear myopathy
+3 more
GPathogenic
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