C0751587[trait identifier] AND "Institute of Neurology, Charite Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 843202	NM_033629.6(TREX1):c.416del (p.Ala139fs)	ATRIP, ATRIP-TREX1 +1 more (A129fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GPathogenic
Select item 624024	NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)	ATRIP, ATRIP-TREX1 +1 more (Y305C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related disorder +5 more	GUncertain significance