ClinVar for MedGen (Select 461665) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 41851.	NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) GRCh37: Chr3:48508106 GRCh38: Chr3:48466707	ATRIP, ATRIP-TREX1, TREX1	D18N, D8N	Chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Aicardi-Goutieres syndrome 1, not provided	Pathogenic (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41842.	NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) GRCh37: Chr3:48508652 GRCh38: Chr3:48467253	ATRIP, ATRIP-TREX1, TREX1	D200N, D190N	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Chilblain lupus 1, Aicardi-Goutieres syndrome 1	Pathogenic (Mar 14, 2022)	criteria provided, single submitter

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