"Myelin Disorders Clinic-Children's Medical Center/Medical Genetics La - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339479	NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del)	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1	GLikely pathogenic
Select item 522920	NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	ATRIP, ATRIP-TREX1 +1 more (P73L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity