"Baylor Genetics"[submitter] AND "ATRIP"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029599	NM_033629.6(TREX1):c.-26-52C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 1	GUncertain significance
Select item 209199	NM_033629.6(TREX1):c.212_213del (p.Val71fs)	ATRIP, ATRIP-TREX1 +1 more (V61fs +1 more)	Microsatellite (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 1029040	NM_033629.6(TREX1):c.317A>G (p.Asn106Ser)	TREX1, ATRIP +1 more (N106S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1	GUncertain significance
Select item 209198	NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)	TREX1, ATRIP +1 more (R114C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 4179	NM_033629.6(TREX1):c.341G>A (p.Arg114His)	ATRIP, ATRIP-TREX1 +1 more (R114H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 126386	NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla)	ATRIP, ATRIP-TREX1 +1 more	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +2 more	GPathogenic
Select item 381689	NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	ATRIP, ATRIP-TREX1 +1 more (A223T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic