C1860518[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282766	NM_033629.6(TREX1):c.144dup (p.Thr49fs)	ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more)	Duplication (frameshift variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1333993	NM_033629.6(TREX1):c.621_622del (p.Ile207fs)	ATRIP, ATRIP-TREX1 +1 more (I197fs +1 more)	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic/Likely pathogenic