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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LYRM7
(N43S)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 8
GUncertain significance
LYRM7
(S49del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance
LYRM7
(K103fs)
Deletion
(3 prime UTR variant +2 more)
Mitochondrial complex III deficiency nuclear type 8
GLikely pathogenic
LYRM7
(F40L)
Single nucleotide variant
(missense variant)
Mitochondrial complex III deficiency nuclear type 8
GUncertain significance
LYRM7
(M1T)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial complex III deficiency nuclear type 8
GPathogenic/Likely pathogenic
LYRM7
(D88E +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex III deficiency nuclear type 8
+1 more
GUncertain significance
LYRM7
Single nucleotide variant
(intron variant)
Mitochondrial complex III deficiency nuclear type 8
GUncertain significance
LYRM7
(Q72E)
Single nucleotide variant
(intron variant +1 more)
Mitochondrial complex III deficiency nuclear type 8
GLikely pathogenic
LYRM7
(T13fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
LYRM7
(Q72*)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial complex III deficiency nuclear type 8
GPathogenic
LYRM7
Microsatellite
(inframe_insertion +1 more)
Mitochondrial complex III deficiency nuclear type 8
GPathogenic
LYRM7
Duplication
(intron variant)
Mitochondrial complex III deficiency nuclear type 8
GPathogenic
LYRM7
(D25N)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex III deficiency nuclear type 8
GPathogenic
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