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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GTF2H5
(D39V)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 3, photosensitive
GUncertain significance
GTF2H5
(R56Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GTF2H5
(I10K)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 3, photosensitive
GPathogenic
GTF2H5
(K17*)
Single nucleotide variant
(nonsense)
Trichothiodystrophy 3, photosensitive
GPathogenic
GTF2H5
(E55*)
Single nucleotide variant
(nonsense)
Trichothiodystrophy 3, photosensitive
GPathogenic
GTF2H5
Single nucleotide variant
(splice acceptor variant)
Trichothiodystrophy 3, photosensitive
GLikely pathogenic
GTF2H5
(L21P)
Single nucleotide variant
(missense variant)
Trichothiodystrophy 3, photosensitive
GPathogenic
GTF2H5
(R56*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
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