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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LONP1
(E612K +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GUncertain significance
LONP1
(H742Y +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GUncertain significance
LONP1
(T442M +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
+2 more
GConflicting classifications of pathogenicity
LONP1
(R470C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LONP1
Deletion
(inframe_deletion +2 more)
CODAS syndrome
+1 more
GUncertain significance
LONP1
(A542V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC130063270, LONP1
(I109V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LONP1
(Y163S +1 more)
Single nucleotide variant
(missense variant +2 more)
CODAS syndrome
GUncertain significance
LONP1
(R342C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LONP1
Single nucleotide variant
(intron variant)
CODAS syndrome
+1 more
GBenign
LONP1
(A848T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LONP1
(T67I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LONP1
(G906W +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GUncertain significance
LONP1
(H632Y +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
+1 more
GUncertain significance
LONP1
(V735M +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
+2 more
GConflicting classifications of pathogenicity
LONP1
(T642M +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
+1 more
GConflicting classifications of pathogenicity
LONP1
(P697L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LONP1
(E583K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LONP1
(R476C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LONP1
Single nucleotide variant
(splice donor variant)
CODAS syndrome
GLikely benign
LONP1
(E245K +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
+1 more
GConflicting classifications of pathogenicity
LONP1
(Y743H +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GLikely pathogenic
LONP1
(V466G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LONP1
(E650K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LONP1
(V233M +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GUncertain significance
LONP1
(V373I +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
+4 more
GBenign/Likely benign
LONP1
(L266V +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
+1 more
GUncertain significance
LONP1
(A724V +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GPathogenic
LONP1
(S631Y +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GPathogenic
LONP1
(P676S +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
+1 more
GConflicting classifications of pathogenicity
LONP1
(R721G +2 more)
Single nucleotide variant
(missense variant +1 more)
CODAS syndrome
GPathogenic
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