"Revvity Omics, Revvity"[submitter] AND "ATRIP"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126390	NM_033629.6(TREX1):c.58dup (p.Glu20fs)	TREX1, ATRIP +1 more (E20fs +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GPathogenic
Select item 282766	NM_033629.6(TREX1):c.144dup (p.Thr49fs)	ATRIP, ATRIP-TREX1 +1 more (T39fs +1 more)	Duplication (non-coding transcript variant +2 more)	TREX1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 1690729	NM_033629.6(TREX1):c.150_151del (p.Gln51fs)	ATRIP, ATRIP-TREX1 +1 more (Q41fs +1 more)	Microsatellite (non-coding transcript variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 126384	NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)	ATRIP, ATRIP-TREX1 +1 more (A72fs +1 more)	Microsatellite (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 225498	NM_033629.6(TREX1):c.290G>A (p.Arg97His)	ATRIP, ATRIP-TREX1 +1 more (R97H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 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)	TREX1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2437262	NM_033629.6(TREX1):c.354C>T (p.Pro118=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2437263	NM_033629.6(TREX1):c.446G>T (p.Gly149Val)	ATRIP, ATRIP-TREX1 +1 more (G139V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2434231	NM_033629.6(TREX1):c.599_602dup (p.Leu202fs)	ATRIP, ATRIP-TREX1 +1 more (L192fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 2437261	NM_033629.6(TREX1):c.638A>G (p.Gln213Arg)	ATRIP, ATRIP-TREX1 +1 more (Q203R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +3 more	GUncertain significance
Select item 381689	NM_033629.6(TREX1):c.667G>A (p.Ala223Thr)	TREX1, ATRIP +1 more (A223T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 586842	NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)	ATRIP, ATRIP-TREX1 +1 more (A247P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +4 more	GUncertain significance
Select item 1520619	NM_033629.6(TREX1):c.749C>T (p.Thr250Ile)	ATRIP, ATRIP-TREX1 +1 more (T250I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 665857	NM_033629.6(TREX1):c.784C>T (p.Pro262Ser)	ATRIP, ATRIP-TREX1 +1 more (P252S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 126393	NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	ATRIP, ATRIP-TREX1 +1 more	Deletion (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 2437260	NM_033629.6(TREX1):c.898_899dup (p.Val301fs)	ATRIP, ATRIP-TREX1 +1 more (V291fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GUncertain significance