"Ambry Genetics"[submitter] AND "ATRIP"[gene] - ClinVar

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132126	NM_130384.3(ATRIP):c.22G>A (p.Gly8Ser)	ATRIP, ATRIP-TREX1 +1 more (G8S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2487704	NM_130384.3(ATRIP):c.38G>A (p.Ser13Asn)	ATRIP, ATRIP-TREX1 +1 more (S13N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2599262	NM_130384.3(ATRIP):c.85C>G (p.Pro29Ala)	ATRIP, ATRIP-TREX1 +1 more (P29A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3132125	NM_130384.3(ATRIP):c.224C>G (p.Pro75Arg)	ATRIP, ATRIP-TREX1 (P75R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2246840	NM_130384.3(ATRIP):c.332A>T (p.Asn111Ile)	ATRIP, ATRIP-TREX1 (N111I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2208636	NM_130384.3(ATRIP):c.355G>A (p.Ala119Thr)	ATRIP, ATRIP-TREX1 (A119T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2547412	NM_130384.3(ATRIP):c.383T>C (p.Met128Thr)	ATRIP, ATRIP-TREX1 (M35T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2194671	NM_130384.3(ATRIP):c.518C>T (p.Ala173Val)	ATRIP, ATRIP-TREX1 (A173V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2613131	NM_130384.3(ATRIP):c.593A>C (p.Glu198Ala)	ATRIP, ATRIP-TREX1 (E198A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2905410	NM_130384.3(ATRIP):c.632G>A (p.Arg211Gln)	ATRIP, ATRIP-TREX1 (R118Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2488181	NM_130384.3(ATRIP):c.644T>C (p.Leu215Pro)	ATRIP, ATRIP-TREX1 (L215P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2900093	NM_130384.3(ATRIP):c.704C>T (p.Pro235Leu)	ATRIP, ATRIP-TREX1 (P108L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2236572	NM_130384.3(ATRIP):c.737C>T (p.Ser246Phe)	ATRIP, ATRIP-TREX1 (S153F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132128	NM_130384.3(ATRIP):c.766A>G (p.Asn256Asp)	ATRIP, ATRIP-TREX1 (N163D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2569912	NM_130384.3(ATRIP):c.783C>A (p.His261Gln)	ATRIP, ATRIP-TREX1 (H168Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2210457	NM_130384.3(ATRIP):c.833G>C (p.Ser278Thr)	ATRIP, ATRIP-TREX1 (S185T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2326449	NM_130384.3(ATRIP):c.889T>G (p.Phe297Val)	ATRIP, ATRIP-TREX1 (F170V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3132129	NM_130384.3(ATRIP):c.994C>T (p.Leu332Phe)	ATRIP, ATRIP-TREX1 (L205F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2920152	NM_130384.3(ATRIP):c.1073C>T (p.Ser358Leu)	ATRIP, ATRIP-TREX1 (S265L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 3132114	NM_130384.3(ATRIP):c.1084A>C (p.Thr362Pro)	ATRIP, ATRIP-TREX1 (T362P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2493289	NM_130384.3(ATRIP):c.1085C>G (p.Thr362Ser)	ATRIP, ATRIP-TREX1 (T235S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2083488	NM_130384.3(ATRIP):c.1121C>T (p.Ala374Val)	ATRIP, ATRIP-TREX1 (A281V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2187395	NM_130384.3(ATRIP):c.1186C>T (p.Arg396Cys)	ATRIP, ATRIP-TREX1 (R303C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3132115	NM_130384.3(ATRIP):c.1225C>T (p.Pro409Ser)	ATRIP, ATRIP-TREX1 (P409S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132116	NM_130384.3(ATRIP):c.1226C>T (p.Pro409Leu)	ATRIP, ATRIP-TREX1 (P409L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2278809	NM_130384.3(ATRIP):c.1264C>T (p.Leu422Phe)	ATRIP, ATRIP-TREX1 (L329F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381193	NM_130384.3(ATRIP):c.1378G>A (p.Val460Ile)	ATRIP, ATRIP-TREX1 (V367I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132117	NM_130384.3(ATRIP):c.1504G>A (p.Ala502Thr)	ATRIP, ATRIP-TREX1 (A409T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132118	NM_130384.3(ATRIP):c.1581G>C (p.Arg527Ser)	ATRIP, ATRIP-TREX1 (R400S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132119	NM_130384.3(ATRIP):c.1630C>T (p.His544Tyr)	ATRIP, ATRIP-TREX1 (H417Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2507504	NM_130384.3(ATRIP):c.1645T>G (p.Ser549Ala)	ATRIP, ATRIP-TREX1 (S456A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132121	NM_130384.3(ATRIP):c.1649C>T (p.Ser550Phe)	ATRIP, ATRIP-TREX1 (S423F +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3132120	NM_130384.3(ATRIP):c.1649C>A (p.Ser550Tyr)	ATRIP, ATRIP-TREX1 (S423Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3023406	NM_130384.3(ATRIP):c.1705G>T (p.Val569Leu)	ATRIP, ATRIP-TREX1 (V476L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2471812	NM_130384.3(ATRIP):c.1763A>G (p.Gln588Arg)	ATRIP, ATRIP-TREX1 (Q495R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2349903	NM_130384.3(ATRIP):c.1807G>A (p.Val603Met)	ATRIP, ATRIP-TREX1 (V476M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1931434	NM_130384.3(ATRIP):c.1849G>A (p.Asp617Asn)	ATRIP, ATRIP-TREX1 (D490N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2308722	NM_130384.3(ATRIP):c.1925G>A (p.Arg642Gln)	ATRIP, ATRIP-TREX1 (R515Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1947177	NM_130384.3(ATRIP):c.1928C>T (p.Pro643Leu)	ATRIP, ATRIP-TREX1 (P643L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2380719	NM_130384.3(ATRIP):c.2012C>T (p.Pro671Leu)	ATRIP, ATRIP-TREX1 (P544L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3132122	NM_130384.3(ATRIP):c.2023G>A (p.Val675Ile)	ATRIP, ATRIP-TREX1 (V548I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2239920	NM_130384.3(ATRIP):c.2039G>C (p.Cys680Ser)	ATRIP, ATRIP-TREX1 (C680S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GUncertain significance
Select item 2084884	NM_130384.3(ATRIP):c.2043G>C (p.Gln681His)	ATRIP, ATRIP-TREX1 (Q681H +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GUncertain significance
Select item 3132123	NM_130384.3(ATRIP):c.2057T>A (p.Val686Glu)	ATRIP, ATRIP-TREX1 (V559E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2340760	NM_130384.3(ATRIP):c.2068C>T (p.Leu690Phe)	ATRIP, ATRIP-TREX1 (L597F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2292635	NM_130384.3(ATRIP):c.2152C>T (p.Arg718Cys)	ATRIP, ATRIP-TREX1 (R625C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240751	NM_130384.3(ATRIP):c.2161C>T (p.Arg721Trp)	ATRIP, ATRIP-TREX1 (R628W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2205148	NM_130384.3(ATRIP):c.2230G>T (p.Val744Phe)	ATRIP, ATRIP-TREX1 (V617F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2963112	NM_130384.3(ATRIP):c.2336C>T (p.Ala779Val)	ATRIP, ATRIP-TREX1 +1 more (A686V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 3132127	NM_130384.3(ATRIP):c.2360A>G (p.Glu787Gly)	ATRIP, ATRIP-TREX1 +1 more (E760G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1391593	NM_033629.6(TREX1):c.8C>T (p.Ser3Leu)	ATRIP, ATRIP-TREX1 +1 more (S3L)	Single nucleotide variant (non-coding transcript variant +3 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 1058471	NM_033629.6(TREX1):c.23C>T (p.Pro8Leu)	ATRIP-TREX1, TREX1 +1 more (P8L)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3182133	NM_033629.6(TREX1):c.131T>A (p.Leu44Gln)	ATRIP, ATRIP-TREX1 +1 more (L44Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3182134	NM_033629.6(TREX1):c.164C>T (p.Pro55Leu)	ATRIP, ATRIP-TREX1 +1 more (P45L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2238174	NM_033629.6(TREX1):c.172C>T (p.Pro58Ser)	ATRIP, ATRIP-TREX1 +1 more (P58S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 862993	NM_033629.6(TREX1):c.184C>T (p.Arg62Cys)	ATRIP, ATRIP-TREX1 +1 more (R52C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 957146	NM_033629.6(TREX1):c.197A>G (p.Lys66Arg)	ATRIP, ATRIP-TREX1 +1 more (K56R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +4 more	GUncertain significance
Select item 847510	NM_033629.6(TREX1):c.247G>A (p.Glu83Lys)	TREX1, ATRIP +1 more (E73K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3182136	NM_033629.6(TREX1):c.266C>T (p.Thr89Ile)	ATRIP, ATRIP-TREX1 +1 more (T79I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 593834	NM_033629.6(TREX1):c.299T>C (p.Phe100Ser)	ATRIP, ATRIP-TREX1 +1 more (F100S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +4 more	GUncertain significance
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 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 345777	NM_033629.6(TREX1):c.418A>G (p.Met140Val)	ATRIP, ATRIP-TREX1 +1 more (M140V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 946334	NM_033629.6(TREX1):c.463A>G (p.Ser155Gly)	ATRIP, ATRIP-TREX1 +1 more (S145G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1350863	NM_033629.6(TREX1):c.491G>C (p.Arg164Pro)	ATRIP, ATRIP-TREX1 +1 more (R154P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +3 more	GUncertain significance
Select item 1010253	NM_033629.6(TREX1):c.592G>A (p.Glu198Lys)	ATRIP, ATRIP-TREX1 +1 more (E188K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2146220	NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)	ATRIP, ATRIP-TREX1 +1 more (F226L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 967038	NM_033629.6(TREX1):c.728C>G (p.Pro243Arg)	ATRIP, ATRIP-TREX1 +1 more (P233R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aicardi-Goutieres syndrome 1 +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

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Items: 69