ClinVar for MedGen (Select 899675) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578338	NM_006978.3(RNF113A):c.890_891del (p.Tyr297fs)	RNF113A (Y297fs)	Deletion (frameshift variant)	Trichothiodystrophy 5, nonphotosensitive	GLikely pathogenic
Select item 1312234	NM_006978.3(RNF113A):c.860T>C (p.Leu287Pro)	RNF113A (L287P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1229614	NM_006978.3(RNF113A):c.-11A>G	LOC130068621, NDUFA1 +1 more	Single nucleotide variant (5 prime UTR variant)	Trichothiodystrophy 5, nonphotosensitive +1 more	GBenign
Select item 1029122	NM_006978.3(RNF113A):c.76G>A (p.Gly26Arg)	LOC130068621, RNF113A (G26R)	Single nucleotide variant (missense variant)	Trichothiodystrophy 5, nonphotosensitive	GUncertain significance
Select item 1029121	NM_006978.3(RNF113A):c.484T>C (p.Tyr162His)	RNF113A (Y162H)	Single nucleotide variant (missense variant)	Trichothiodystrophy 5, nonphotosensitive	GUncertain significance
Select item 872888	NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer)	RNF113A	Microsatellite (nonsense)	Trichothiodystrophy 5, nonphotosensitive	GPathogenic
Select item 816875	NM_006978.3(RNF113A):c.903_910del (p.Gln302fs)	RNF113A (Q302fs)	Deletion (frameshift variant)	Trichothiodystrophy 5, nonphotosensitive	GUncertain significance
Select item 192382	NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter)	RNF113A (Q301*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 5, nonphotosensitive	GPathogenic

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