"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATRIP"[ge - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 789984	NM_130384.3(ATRIP):c.111C>T (p.Phe37=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	ATRIP-related condition +1 more	GBenign
Select item 728188	NM_130384.3(ATRIP):c.1172G>A (p.Arg391Gln)	ATRIP, ATRIP-TREX1 (R298Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ATRIP-related condition +1 more	GLikely benign
Select item 721612	NM_130384.3(ATRIP):c.1366G>A (p.Val456Met)	ATRIP, ATRIP-TREX1 (V329M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 723989	NM_130384.3(ATRIP):c.1476C>T (p.Val492=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2168495	NM_130384.3(ATRIP):c.2130C>T (p.Thr710=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 770524	NM_130384.3(ATRIP):c.2274C>T (p.Leu758=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 2634861	NM_033629.6(TREX1):c.-26-96G>A	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	TREX1-related condition	GUncertain significance
Select item 3036003	NM_033629.6(TREX1):c.-26-95G>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	TREX1-related condition	GLikely benign
Select item 3032729	NM_033629.6(TREX1):c.-26-57C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	TREX1-related condition	GUncertain significance
Select item 2636633	NM_033629.6(TREX1):c.-11C>T	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	TREX1-related condition	GUncertain significance
Select item 345772	NM_033629.6(TREX1):c.9G>A (p.Ser3=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	TREX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3029694	NM_033629.6(TREX1):c.50T>C (p.Phe17Ser)	ATRIP-TREX1, TREX1 +1 more (F17S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition	GUncertain significance
Select item 126390	NM_033629.6(TREX1):c.58dup (p.Glu20fs)	ATRIP, ATRIP-TREX1 +1 more (E20fs +1 more)	Duplication (non-coding transcript variant +2 more)	TREX1-related condition +5 more	GPathogenic
Select item 1423215	NM_033629.6(TREX1):c.80C>T (p.Ser27Phe)	ATRIP, ATRIP-TREX1 +1 more (S27F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GUncertain significance
Select item 282766	NM_033629.6(TREX1):c.144dup (p.Thr49fs)	TREX1, ATRIP +1 more (T39fs +1 more)	Duplication (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 345773	NM_033629.6(TREX1):c.183G>A (p.Pro61=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 839889	NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)	ATRIP, ATRIP-TREX1 +1 more (S82fs +1 more)	Microsatellite (non-coding transcript variant +2 more)	TREX1-related condition +4 more	GPathogenic/Likely pathogenic
Select item 1019658	NM_033629.6(TREX1):c.308A>T (p.Asn103Ile)	ATRIP-TREX1, TREX1 +1 more (N103I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Chilblain lupus 1 +5 more	GUncertain significance
Select item 345775	NM_033629.6(TREX1):c.312G>C (p.Leu104=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 766933	NM_033629.6(TREX1):c.339G>A (p.Arg113=)	ATRIP-TREX1, ATRIP +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GLikely benign
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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 535847	NM_033629.6(TREX1):c.382C>T (p.Arg128Cys)	ATRIP, ATRIP-TREX1 +1 more (R128C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GUncertain significance
Select item 1351953	NM_033629.6(TREX1):c.394C>A (p.Pro132Thr)	ATRIP, ATRIP-TREX1 +1 more (P122T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +3 more	GUncertain significance
Select item 771806	NM_033629.6(TREX1):c.429C>T (p.Leu143=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +3 more	GLikely benign
Select item 4180	NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)	ATRIP, ATRIP-TREX1 +1 more (R164* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	TREX1-related condition +4 more	GPathogenic/Likely pathogenic
Select item 96241	NM_130384.3(ATRIP):c.*1632=	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 1 +5 more	GBenign
Select item 570429	NM_033629.6(TREX1):c.623G>C (p.Cys208Ser)	ATRIP, ATRIP-TREX1 +1 more (C208S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 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)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 262243	NM_033629.6(TREX1):c.912G>A (p.Leu304=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more	GBenign
Select item 624024	NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)	ATRIP, ATRIP-TREX1 +1 more (Y305C +1 more)	Single nucleotide variant (missense variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance

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Items: 30