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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF113A
(Y297fs)
Deletion
(frameshift variant)
Trichothiodystrophy 5, nonphotosensitive
GLikely pathogenic
RNF113A
(L287P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130068621, NDUFA1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
LOC130068621, RNF113A
(G26R)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 5, nonphotosensitive
GUncertain significance
RNF113A
(Y162H)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 5, nonphotosensitive
GUncertain significance
RNF113A
Microsatellite
(nonsense)
Trichothiodystrophy 5, nonphotosensitive
GPathogenic
RNF113A
(Q302fs)
Deletion
(frameshift variant)
Trichothiodystrophy 5, nonphotosensitive
GUncertain significance
RNF113A
(Q301*)
Single nucleotide variant
(nonsense)
Trichothiodystrophy 5, nonphotosensitive
GPathogenic
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