ATRIP[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 777

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 1291449	NC_000003.12:g.48446391G>C	ATRIP, CCDC51	Single nucleotide variant	not provided	GBenign
Select item 1261622	NC_000003.12:g.48446507=	ATRIP, CCDC51	Single nucleotide variant	not provided	GBenign
Select item 1262894	NM_130384.3(ATRIP):c.-101C>G	ATRIP, LOC129936703	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1230187	NM_130384.3(ATRIP):c.-58G>C	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 2413688	NM_130384.3(ATRIP):c.24C>G (p.Gly8=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2161527	NM_130384.3(ATRIP):c.25A>C (p.Ser9Arg)	ATRIP, ATRIP-TREX1 +1 more (S9R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2049866	NM_130384.3(ATRIP):c.26G>T (p.Ser9Ile)	ATRIP, ATRIP-TREX1 +1 more (S9I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2835215	NM_130384.3(ATRIP):c.27C>G (p.Ser9Arg)	ATRIP, ATRIP-TREX1 +1 more (S9R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3000602	NM_130384.3(ATRIP):c.32G>C (p.Arg11Thr)	ATRIP, ATRIP-TREX1 +1 more (R11T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2071781	NM_130384.3(ATRIP):c.32G>A (p.Arg11Lys)	ATRIP, ATRIP-TREX1 +1 more (R11K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 3010205	NM_130384.3(ATRIP):c.34C>T (p.Arg12Trp)	ATRIP-TREX1, LOC129936703 +1 more (R12W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	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 2101080	NM_130384.3(ATRIP):c.65C>A (p.Pro22Gln)	ATRIP, ATRIP-TREX1 +1 more (P22Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2003609	NM_130384.3(ATRIP):c.80G>A (p.Gly27Glu)	ATRIP, ATRIP-TREX1 +1 more (G27E)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 740579	NM_130384.3(ATRIP):c.81G>C (p.Gly27=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1924235	NM_130384.3(ATRIP):c.89dup (p.Ser31fs)	ATRIP, ATRIP-TREX1 +1 more (S31fs)	Duplication (non-coding transcript variant +2 more)	not provided	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 789984	NM_130384.3(ATRIP):c.111C>T (p.Phe37=)	ATRIP, ATRIP-TREX1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign
Select item 2183466	NM_130384.3(ATRIP):c.127C>A (p.Pro43Thr)	ATRIP, ATRIP-TREX1 +1 more (P43T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2866249	NM_130384.3(ATRIP):c.155A>G (p.His52Arg)	ATRIP, ATRIP-TREX1 +1 more (H52R)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2994124	NM_130384.3(ATRIP):c.174C>A (p.Asp58Glu)	ATRIP, ATRIP-TREX1 +1 more (D58E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1898907	NM_130384.3(ATRIP):c.181G>A (p.Glu61Lys)	ATRIP, ATRIP-TREX1 +1 more (E61K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2975058	NM_130384.3(ATRIP):c.196C>T (p.Leu66Phe)	ATRIP, ATRIP-TREX1 +1 more (L66F)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2414411	NM_130384.3(ATRIP):c.203C>T (p.Ser68Leu)	ATRIP, ATRIP-TREX1 (S68L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3008925	NM_130384.3(ATRIP):c.217C>T (p.Gln73Ter)	ATRIP, ATRIP-TREX1 (Q73*)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 746211	NM_130384.3(ATRIP):c.219A>G (p.Gln73=)	ATRIP-TREX1, ATRIP	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
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 2961755	NM_130384.3(ATRIP):c.225G>A (p.Pro75=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2124622	NM_130384.3(ATRIP):c.235C>T (p.Arg79Trp)	ATRIP, ATRIP-TREX1 (R79W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2727897	NM_130384.3(ATRIP):c.240C>T (p.Asp80=)	ATRIP-TREX1, ATRIP	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1916701	NM_130384.3(ATRIP):c.246C>T (p.Ser82=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1293988	NM_130384.3(ATRIP):c.248-246del	ATRIP, ATRIP-TREX1	Deletion (intron variant)	not provided	GBenign
Select item 1613091	NM_130384.3(ATRIP):c.248-18T>A	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2904442	NM_130384.3(ATRIP):c.293C>T (p.Pro98Leu)	ATRIP, ATRIP-TREX1 (P98L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1953965	NM_130384.3(ATRIP):c.316G>A (p.Val106Ile)	ATRIP, ATRIP-TREX1 (V13I +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	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 746481	NM_130384.3(ATRIP):c.336C>T (p.Phe112=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 1431006	NM_130384.3(ATRIP):c.337G>A (p.Glu113Lys)	ATRIP, ATRIP-TREX1 (E20K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	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 712527	NM_130384.3(ATRIP):c.373A>C (p.Lys125Gln)	ATRIP, ATRIP-TREX1 (K125Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1621536	NM_130384.3(ATRIP):c.381+18T>C	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2984331	NM_130384.3(ATRIP):c.395AAG[2] (p.Glu134del)	ATRIP, ATRIP-TREX1 (E41del +2 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1931512	NM_130384.3(ATRIP):c.398A>G (p.Glu133Gly)	ATRIP, ATRIP-TREX1 (E133G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2700216	NM_130384.3(ATRIP):c.443C>T (p.Ser148Leu)	ATRIP, ATRIP-TREX1 (S148L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171535	NM_130384.3(ATRIP):c.456G>A (p.Thr152=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2176489	NM_130384.3(ATRIP):c.462C>T (p.Ser154=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2016670	NM_130384.3(ATRIP):c.466C>G (p.Leu156Val)	ATRIP, ATRIP-TREX1 (L156V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2023020	NM_130384.3(ATRIP):c.488A>G (p.His163Arg)	ATRIP, ATRIP-TREX1 (H70R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1920507	NM_130384.3(ATRIP):c.493C>G (p.Leu165Val)	ATRIP, ATRIP-TREX1 (L165V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063396	NM_130384.3(ATRIP):c.515A>G (p.Gln172Arg)	ATRIP, ATRIP-TREX1 (Q45R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 provided +1 more	GUncertain significance
Select item 2959269	NM_130384.3(ATRIP):c.522C>G (p.Leu174=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1419762	NM_130384.3(ATRIP):c.631C>T (p.Arg211Ter)	ATRIP, ATRIP-TREX1 (R211* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1909594	NM_130384.3(ATRIP):c.654C>T (p.Pro218=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979887	NM_130384.3(ATRIP):c.671+20del	ATRIP, ATRIP-TREX1	Deletion (intron variant)	not provided	GLikely benign
Select item 1281881	NM_130384.3(ATRIP):c.672-203=	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2756410	NM_130384.3(ATRIP):c.672-15G>A	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115903	NM_130384.3(ATRIP):c.677G>A (p.Arg226Lys)	ATRIP, ATRIP-TREX1 (R133K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2095315	NM_130384.3(ATRIP):c.679A>G (p.Lys227Glu)	ATRIP, ATRIP-TREX1 (K134E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1898505	NM_130384.3(ATRIP):c.688T>C (p.Ser230Pro)	ATRIP, ATRIP-TREX1 (S137P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1922575	NM_130384.3(ATRIP):c.717T>C (p.Ser239=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1250639	NM_130384.3(ATRIP):c.719C>T (p.Pro240Leu)	ATRIP, ATRIP-TREX1 (P113L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 764954	NM_130384.3(ATRIP):c.720A>G (p.Pro240=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2998747	NM_130384.3(ATRIP):c.726T>G (p.Phe242Leu)	ATRIP, ATRIP-TREX1 (F149L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 723647	NM_130384.3(ATRIP):c.744T>A (p.Pro248=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1571628	NM_130384.3(ATRIP):c.759T>C (p.Phe253=)	ATRIP-TREX1, ATRIP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 724601	NM_130384.3(ATRIP):c.762T>C (p.Ser254=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2805745	NM_130384.3(ATRIP):c.772T>C (p.Ser258Pro)	ATRIP, ATRIP-TREX1 (S165P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1932595	NM_130384.3(ATRIP):c.795G>A (p.Thr265=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 982310	NM_130384.3(ATRIP):c.829+2T>G	ATRIP, ATRIP-TREX1	Single nucleotide variant (splice donor variant)	Seckel syndrome	GPathogenic
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 1910913	NM_130384.3(ATRIP):c.925+13C>G	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799382	NM_130384.3(ATRIP):c.926-7T>C	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893889	NM_130384.3(ATRIP):c.926-6C>T	ATRIP, ATRIP-TREX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914579	NM_130384.3(ATRIP):c.934T>C (p.Leu312=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2693709	NM_130384.3(ATRIP):c.962T>C (p.Leu321Ser)	ATRIP, ATRIP-TREX1 (L321S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2094590	NM_130384.3(ATRIP):c.1000A>C (p.Ser334Arg)	ATRIP, ATRIP-TREX1 (S334R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893021	NM_130384.3(ATRIP):c.1019C>T (p.Pro340Leu)	ATRIP, ATRIP-TREX1 (P340L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1902960	NM_130384.3(ATRIP):c.1028C>A (p.Thr343Asn)	ATRIP-TREX1, ATRIP (T343N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997011	NM_130384.3(ATRIP):c.1047G>A (p.Gly349=)	ATRIP-TREX1, ATRIP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2117631	NM_130384.3(ATRIP):c.1056-18_1056-15del	ATRIP, ATRIP-TREX1	Deletion (intron variant)	not provided	GUncertain significance
Select item 735680	NM_130384.3(ATRIP):c.1066G>A (p.Gly356Arg)	ATRIP, ATRIP-TREX1 (G229R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 provided +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 760243	NM_130384.3(ATRIP):c.1098T>C (p.Tyr366=)	ATRIP, ATRIP-TREX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2800597	NM_130384.3(ATRIP):c.1099G>A (p.Asp367Asn)	ATRIP, ATRIP-TREX1 (D274N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2978982	NM_130384.3(ATRIP):c.1112C>G (p.Ser371Cys)	ATRIP, ATRIP-TREX1 (S244C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 8