ClinVar for MedGen (Select 865608) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065503	NM_207118.3(GTF2H5):c.116A>T (p.Asp39Val)	GTF2H5 (D39V)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive	GUncertain significance
Select item 1050091	NM_207118.3(GTF2H5):c.167G>A (p.Arg56Gln)	GTF2H5 (R56Q)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive +2 more	GUncertain significance
Select item 975160	NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys)	GTF2H5 (I10K)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 975159	NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter)	GTF2H5 (K17*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 975158	NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter)	GTF2H5 (E55*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 587425	NM_207118.3(GTF2H5):c.36-2A>G	GTF2H5	Single nucleotide variant (splice acceptor variant)	Trichothiodystrophy 3, photosensitive	GLikely pathogenic
Select item 2104	NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro)	GTF2H5 (L21P)	Single nucleotide variant (missense variant)	Trichothiodystrophy 3, photosensitive	GPathogenic
Select item 2103	NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter)	GTF2H5 (R56*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic

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