ClinVar for MedGen (Select 1684762) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334926	NM_152295.5(TARS1):c.1653G>A (p.Ala551=)	TARS1	Single nucleotide variant (synonymous variant +1 more)	Trichothiodystrophy 7, nonphotosensitive +1 more	GBenign
Select item 1334925	NM_152295.5(TARS1):c.985-35G>A	TARS1	Single nucleotide variant (intron variant)	Trichothiodystrophy 7, nonphotosensitive	GBenign
Select item 1334924	NM_152295.5(TARS1):c.984+27T>A	TARS1	Single nucleotide variant (intron variant)	Trichothiodystrophy 7, nonphotosensitive	GBenign
Select item 782449	NM_152295.5(TARS1):c.62G>A (p.Gly21Asp)	TARS1 (G21D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 689399	NM_152295.5(TARS1):c.680T>C (p.Leu227Pro)	TARS1 (L227P +1 more)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 7, nonphotosensitive	GPathogenic
Select item 689398	NM_152295.5(TARS1):c.826A>G (p.Lys276Glu)	TARS1 (K276E +1 more)	Single nucleotide variant (missense variant +1 more)	Trichothiodystrophy 7, nonphotosensitive	GPathogenic
Select item 689397	NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)	TARS1 (R638* +1 more)	Single nucleotide variant (nonsense +1 more)	Trichothiodystrophy 7, nonphotosensitive	GPathogenic

ClinVar