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Links from MedGen

Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYROXD1
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 8
GUncertain significance
PYROXD1
(L112fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
PYROXD1
(Y283C +1 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 8
GPathogenic
PYROXD1
(R132C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PYROXD1
(V298fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PYROXD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC130007527, PYROXD1
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
PYROXD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PYROXD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PYROXD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PYROXD1
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar myopathy 8
+1 more
GBenign
PYROXD1
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 8
+1 more
GBenign
PYROXD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PYROXD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PYROXD1
(I135T +1 more)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 8
GUncertain significance
PYROXD1
(G44R +1 more)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 8
GUncertain significance
PYROXD1
(G335del +2 more)
Deletion
(inframe_deletion)
Myofibrillar myopathy 8
GUncertain significance
PYROXD1
(K129fs +2 more)
Duplication
(frameshift variant)
Myofibrillar myopathy 8
GPathogenic
PYROXD1
Single nucleotide variant
(splice donor variant)
Myofibrillar myopathy 8
GPathogenic
PYROXD1
(N155S +1 more)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 8
+1 more
GPathogenic
PYROXD1
(Q372H +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PYROXD1
Single nucleotide variant
(splice donor variant)
Myofibrillar myopathy 8
+1 more
GPathogenic/Likely pathogenic
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