Unique variants in the ATR gene

Information The variants shown are described using the NM_001184.3 transcript reference sequence.

129 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 1 1_47 c.(?_1)_(*_?)del r.0 p.0 - pathogenic (recessive) g.? - chr3.hg18:g.(143446412_143475187)_(144013999_144022947)del - ATR_000002 deletion of entire gene; normal 2nd chromosome - - - Germline - - - - - REVY
-?/. 1 - c.195C>T r.(?) p.(Ser65=) - likely benign g.142285060G>A g.142566218G>A ATR(NM_001184.3):c.195C>T (p.S65=) - ATR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.196G>A r.(?) p.(Val66Met) - likely benign g.142285059C>T g.142566217C>T ATR(NM_001184.3):c.196G>A (p.(Val66Met)) - ATR_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.268C>T r.(?) p.(His90Tyr) - likely benign g.142284987G>A g.142566145G>A ATR(NM_001184.3):c.268C>T (p.H90Y, p.(His90Tyr)) - ATR_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.293-20C>T r.(=) p.(=) - benign g.142281971G>A g.142563129G>A ATR(NM_001184.3):c.293-20C>T - ATR_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., -?/., ?/. 4 - c.325C>T r.(?) p.(Arg109Trp) - likely benign, VUS g.142281919G>A g.142563077G>A ATR(NM_001184.3):c.325C>T (p.R109W, p.(Arg109Trp)) - ATR_000064 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Jiang 2022, PubMed: Narang 2020, Journal: Narang 2020 - rs146405935 CLASSIFICATION record, Germline, Germline/De novo (untested) - 3/2795 individuals, >1/309 cases - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.407G>C r.(?) p.(Ser136Thr) - likely benign g.142281837C>G g.142562995C>G ATR(NM_001184.3):c.407G>C (p.S136T) - ATR_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.423T>C r.(?) p.(Ile141=) - benign g.142281821A>G g.142562979A>G ATR(NM_001184.3):c.423T>C (p.I141=) - ATR_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.483A>G r.(?) p.(Arg161=) - likely benign g.142281761T>C g.142562919T>C ATR(NM_001184.3):c.483A>G (p.R161=) - ATR_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.632T>C r.(?) p.(Met211Thr) - benign g.142281612A>G g.142562770A>G ATR(NM_001184.4):c.632T>C (p.M211T) - ATR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.644G>A r.(?) p.(Arg215His) - likely benign g.142281600C>T g.142562758C>T ATR(NM_001184.3):c.644G>A (p.R215H) - ATR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.744A>C r.(?) p.(Ala248=) - likely benign g.142281500T>G - ATR(NM_001184.3):c.744A>C (p.A248=) - ATR_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.816A>G r.(?) p.(Ser272=) - likely benign g.142281428T>C g.142562586T>C ATR(NM_001184.3):c.816A>G (p.S272=) - ATR_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.891G>C r.(?) p.(Lys297Asn) - benign, likely benign g.142281353C>G g.142562511C>G ATR(NM_001184.3):c.891G>C (p.K297N, p.(Lys297Asn)), ATR(NM_001184.4):c.891G>C (p.K297N) - ATR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.898A>C r.(?) p.(Lys300Gln) - likely benign g.142281346T>G - ATR(NM_001184.3):c.898A>C (p.K300Q) - ATR_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.946G>A r.(?) p.(Val316Ile) - likely benign g.142281298C>T g.142562456C>T ATR(NM_001184.3):c.946G>A (p.V316I, p.(Val316Ile)) - ATR_000060 10 homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs28897764 CLASSIFICATION record, Germline - 10/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 2 - c.992A>G r.(?) p.(Asp331Gly) - likely benign g.142281252T>C g.142562410T>C ATR(NM_001184.3):c.992A>G (p.D331G, p.(Asp331Gly)) - ATR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.993C>T r.(?) p.(Asp331=) - likely benign g.142281251G>A g.142562409G>A ATR(NM_001184.3):c.993C>T (p.D331=) - ATR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1047A>G r.(?) p.(Leu349=) - likely benign g.142281197T>C - ATR(NM_001184.4):c.1047A>G (p.L349=) - ATR_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1127G>A r.(?) p.(Cys376Tyr) - VUS g.142281117C>T - ATR(NM_001184.4):c.1127G>A (p.C376Y) - ATR_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1180G>A r.(?) p.(Gly394Ser) - likely benign g.142280254C>T g.142561412C>T ATR(NM_001184.3):c.1180G>A (p.(Gly394Ser)) - ATR_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1326A>G r.(?) p.(Lys442=) - likely benign g.142280108T>C g.142561266T>C ATR(NM_001184.3):c.1326A>G (p.K442=) - ATR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1328G>C r.(?) p.(Arg443Thr) - benign g.142280106C>G g.142561264C>G ATR(NM_001184.3):c.1328G>C (p.R443T) - ATR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1417C>T r.(?) p.(Leu473Phe) - VUS g.142279229G>A g.142560387G>A ATR(NM_001184.3):c.1417C>T (p.L473F) - ATR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1428C>A r.(?) p.(Ser476=) - likely benign g.142279218G>T g.142560376G>T ATR(NM_001184.3):c.1428C>A (p.S476=) - ATR_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1485_1487del r.(?) p.(Val496del) - VUS g.142279162_142279164del g.142560320_142560322del ATR(NM_001184.3):c.1485_1487del (p.(Val496del)) - ATR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1578_1580del r.(?) p.(Lys527del) - VUS g.142278250_142278252del - ATR(NM_001184.3):c.1578_1580delGAA (p.K527del) - ATR_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1591G>A r.(?) p.(Val531Met) - likely benign g.142278234C>T g.142559392C>T ATR(NM_001184.3):c.1591G>A (p.V531M) - ATR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1602G>C r.(?) p.(Trp534Cys) - VUS g.142278223C>G - ATR(NM_001184.3):c.1602G>C (p.(Trp534Cys)) - ATR_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1626A>G r.(?) p.(Lys542=) - VUS g.142278199T>C - ATR(NM_001184.3):c.1626A>G (p.K542=) - ATR_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1699G>A r.(?) p.(Val567Met) - likely benign g.142278126C>T - ATR(NM_001184.3):c.1699G>A (p.(Val567Met)) - ATR_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., ?/. 3 - c.1776T>A r.(=), r.(?) p.(=), p.(Gly592=) - benign, VUS g.142277575A>T g.142558733A>T ATR(NM_001184.3):c.1776T>A (p.G592=), ATR(NM_001184.4):c.1776T>A (p.G592=) - ATR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., ?/. 3 - c.1815T>C r.(=), r.(?) p.(=), p.(Asp605=) - benign, VUS g.142277536A>G g.142558694A>G ATR(NM_001184.3):c.1815T>C (p.D605=), ATR(NM_001184.4):c.1815T>C (p.D605=) - ATR_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.1885+67T>C r.(=) p.(=) - VUS g.142277399A>G g.142558557A>G - - ATR_000107 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1950G>A r.(?) p.(Glu650=) - likely benign g.142275353C>T g.142556511C>T ATR(NM_001184.3):c.1950G>A (p.E650=) - ATR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1993G>A r.(?) p.(Glu665Lys) - VUS g.142275310C>T g.142556468C>T ATR(NM_001184.3):c.1993G>A (p.E665K) - ATR_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 9 c.2022A>G r.[1886_1996del, 1886_2014del, 1886_2078del] p.(Gly674=) - pathogenic (recessive) g.142275281T>C g.142556439T>C 2101A>G - ATR_000003 not in 204 control chromosomes PubMed: O'Driscoll 2003, OMIM:var0001 - - Germline - - - - - LOVD
?/. 1 - c.2048A>G r.(?) p.(Asn683Ser) - VUS g.142275255T>C g.142556413T>C ATR(NM_001184.3):c.2048A>G (p.(Asn683Ser)) - ATR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2066C>T r.(?) p.(Pro689Leu) - VUS g.142275237G>A g.142556395G>A - - ATR_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2078T>C r.(?) p.(Ile693Thr) - VUS g.142275225A>G g.142556383A>G ATR(NM_001184.4):c.2078T>C (p.I693T) - ATR_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/., ?/. 3 - c.2079-13T>A r.(=) p.(=) - benign, likely benign, VUS g.142274994A>T g.142556152A>T ATR(NM_001184.3):c.2079-13T>A (, p.(=)), ATR(NM_001184.4):c.2079-13T>A - ATR_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ?/. 3 - c.2290A>G r.(?) p.(Lys764Glu) - likely benign, VUS g.142274770T>C g.142555928T>C ATR(NM_001184.3):c.2290A>G (p.K764E, p.(Lys764Glu)) - ATR_000093 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs77208665 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Mohammed Faruq
-?/., ?/. 2 - c.2320del r.(?) p.(Ile774Tyrfs*5), p.(Ile774TyrfsTer5) - likely benign, VUS g.142274749del g.142555907del chr3:g.143757439del, ATR(NM_001184.3):c.2320delA (p.I774Yfs*5) - ATR_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Gerard C.P. Schaafsma, VKGL-NL_Rotterdam
-?/. 1 - c.2342-9G>A r.(=) p.(=) - likely benign g.142272866C>T g.142554024C>T ATR(NM_001184.3):c.2342-9G>A - ATR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2437A>G r.(?) p.(Met813Val) - likely benign g.142272762T>C - ATR(NM_001184.3):c.2437A>G (p.(Met813Val)) - ATR_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2442A>G r.(?) p.(Glu814=) - benign g.142272757T>C g.142553915T>C ATR(NM_001184.3):c.2442A>G (p.E814=) - ATR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2543T>G r.(?) p.(Leu848Ter) - pathogenic g.142272572A>C g.142553730A>C ATR(NM_001184.3):c.2543T>G (p.L848*) - ATR_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2634G>A r.(?) p.(Arg878=) - VUS g.142272240C>T g.142553398C>T ATR(NM_001184.3):c.2634G>A (p.(=)) - ATR_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2688G>A r.(?) p.(Leu896=) - likely benign g.142272186C>T - ATR(NM_001184.3):c.2688G>A (p.L896=) - ATR_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2704T>C r.(?) p.(Ser902Pro) - VUS g.142272170A>G g.142553328A>G ATR(NM_001184.3):c.2704T>C (p.S902P), ATR(NM_001184.4):c.2704T>C (p.S902P) - ATR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 3 - c.2776T>C r.(?) p.(Phe926Leu) - likely benign g.142272098A>G g.142553256A>G ATR(NM_001184.3):c.2776T>C (p.F926L, p.(Phe926Leu)), ATR(NM_001184.4):c.2776T>C (p.F926L) - ATR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.2844A>C r.(?) p.(Ala948=) - likely benign g.142269106T>G g.142550264T>G ATR(NM_001184.3):c.2844A>C (p.A948=) - ATR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 - c.2875G>A r.(?) p.(Val959Met) - likely benign g.142269075C>T g.142550233C>T ATR(NM_001184.3):c.2875G>A (p.V959M, p.(Val959Met)) - ATR_000044 10 homozygous; Clinindb (India), 235 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs28910271 CLASSIFICATION record, Germline - 10/2795 individuals, 235/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.2979G>A r.(?) p.(Arg993=) - likely benign g.142268513C>T - ATR(NM_001184.3):c.2979G>A (p.R993=) - ATR_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2985A>G r.(?) p.(Leu995=) - likely benign g.142268507T>C g.142549665T>C ATR(NM_001184.3):c.2985A>G (p.L995=) - ATR_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3120G>A r.(?) p.(Leu1040=) - likely benign g.142268372C>T g.142549530C>T ATR(NM_001184.3):c.3120G>A (p.L1040=) - ATR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3172-26T>A r.(=) p.(=) - benign g.142266778A>T g.142547936A>T ATR(NM_001184.3):c.3172-26T>A - ATR_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3172-15A>T r.(=) p.(=) - benign g.142266767T>A g.142547925T>A ATR(NM_001184.3):c.3172-15A>T - ATR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3172-7G>T r.(=) p.(=) - likely benign g.142266759C>A g.142547917C>A ATR(NM_001184.4):c.3172-7G>T - ATR_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.3339_3341del r.(?) p.(Ile1114del) - VUS g.142266585_142266587del g.142547743_142547745del ATR(NM_001184.3):c.3339_3341del (p.(Ile1114del)), ATR(NM_001184.3):c.3339_3341delCAT (p.I1114del) - ATR_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.3352C>A r.(?) p.(Leu1118Met) - likely benign g.142266572G>T - ATR(NM_001184.3):c.3352C>A (p.(Leu1118Met)) - ATR_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3360T>C r.(?) p.(Ala1120=) - likely benign g.142261597A>G - ATR(NM_001184.3):c.3360T>C (p.(=)) - ATR_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3372A>G r.(?) p.(Gln1124=) - likely benign g.142261585T>C - ATR(NM_001184.3):c.3372A>G (p.Q1124=) - ATR_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3424A>G r.(?) p.(Ser1142Gly) - likely benign g.142261533T>C g.142542691T>C ATR(NM_001184.3):c.3424A>G (p.(Ser1142Gly)) - ATR_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.3725+18A>G r.(=) p.(=) - benign g.142257306T>C g.142538464T>C ATR(NM_001184.3):c.3725+18A>G - ATR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3888T>C r.(?) p.(Asn1296=) - likely benign g.142253979A>G g.142535137A>G ATR(NM_001184.3):c.3888T>C (p.N1296=) - ATR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3949A>C r.(?) p.(Lys1317Gln) - VUS g.142243038T>G - ATR(NM_001184.3):c.3949A>C (p.(Lys1317Gln)) - ATR_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4002G>A r.(?) p.(Gln1334=) - likely benign g.142242985C>T g.142524143C>T ATR(NM_001184.3):c.4002G>A (p.Q1334=) - ATR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4066G>T r.(?) p.(Glu1356*) - VUS g.142242921C>A g.142524079C>A - - ATR_000105 - - - - Germline - - - - - Gerard C.P. Schaafsma
-?/. 1 - c.4153-15T>G r.(=) p.(=) - likely benign g.142241698A>C - ATR(NM_001184.4):c.4153-15T>G - ATR_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.4153-7G>T r.(=) p.(=) - likely benign g.142241690C>A g.142522848C>A ATR(NM_001184.3):c.4153-7G>T (p.(=)) - ATR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4153-6A>T r.(=) p.(=) - likely benign g.142241689T>A g.142522847T>A ATR(NM_001184.3):c.4153-6A>T (p.(=)) - ATR_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4267-10G>A r.(=) p.(=) - likely benign g.142238636C>T - ATR(NM_001184.3):c.4267-10G>A - ATR_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4306A>G r.(?) p.(Asn1436Asp) - likely benign g.142238587T>C - ATR(NM_001184.3):c.4306A>G (p.N1436D) - ATR_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4323A>G r.(?) p.(Gln1441=) - likely benign g.142238570T>C g.142519728T>C ATR(NM_001184.3):c.4323A>G (p.Q1441=) - ATR_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4324T>C r.(?) p.(Leu1442=) - likely benign g.142238569A>G - ATR(NM_001184.3):c.4324T>C (p.L1442=) - ATR_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4345C>T r.(?) p.(His1449Tyr) - likely benign g.142238548G>A g.142519706G>A ATR(NM_001184.3):c.4345C>T (p.(His1449Tyr)) - ATR_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4356A>G r.(?) p.(Glu1452=) - likely benign g.142238537T>C - ATR(NM_001184.3):c.4356A>G (p.E1452=) - ATR_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.4405A>G r.(?) p.(Thr1469Ala) - likely benign g.142234335T>C g.142515493T>C ATR(NM_001184.3):c.4405A>G (p.T1469A, p.(Thr1469Ala)) - ATR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.4510C>T r.(?) p.(His1504Tyr) - VUS g.142232474G>A g.142513632G>A ATR(NM_001184.3):c.4510C>T (p.H1504Y) - ATR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.4576A>G r.(?) p.(Ile1526Val) - likely benign, VUS g.142232408T>C g.142513566T>C ATR(NM_001184.3):c.4576A>G (p.I1526V, p.(Ile1526Val)) - ATR_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.4592A>G r.(?) p.(His1531Arg) - VUS g.142232392T>C g.142513550T>C ATR(NM_001184.3):c.4592A>G (p.H1531R) - ATR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4599G>A r.(?) p.(Leu1533=) - likely benign g.142232385C>T g.142513543C>T ATR(NM_001184.3):c.4599G>A (p.L1533=) - ATR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4649C>T r.(?) p.(Ala1550Val) - likely benign g.142231305G>A - ATR(NM_001184.3):c.4649C>T (p.A1550V) - ATR_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.4730G>T r.(?) p.(Ser1577Ile) - VUS g.142231224C>A g.142512382C>A ATR(NM_001184.3):c.4730G>T (p.S1577I), ATR(NM_001184.4):c.4730G>T (p.S1577I) - ATR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.4764C>T r.(?) p.(Leu1588=) - benign g.142231190G>A g.142512348G>A ATR(NM_001184.3):c.4764C>T (p.L1588=) - ATR_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/., ?/. 3 - c.4835A>G r.(?) p.(Asn1612Ser) - benign, likely benign, VUS g.142231119T>C g.142512277T>C ATR(NM_001184.3):c.4835A>G (p.N1612S, p.(Asn1612Ser)), ATR(NM_001184.4):c.4835A>G (p.N1612S) - ATR_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.4892G>A r.(?) p.(Arg1631His) - likely benign g.142226912C>T - ATR(NM_001184.3):c.4892G>A (p.(Arg1631His)) - ATR_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4957C>T r.(?) p.(Arg1653Ter) - VUS g.142226847G>A g.142508005G>A ATR(NM_001184.3):c.4957C>T (p.(Arg1653Ter)) - ATR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5052T>C r.(?) p.(His1684=) - likely benign g.142224125A>G g.142505283A>G ATR(NM_001184.3):c.5052T>C (p.H1684=) - ATR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5133C>T r.(?) p.(Ser1711=) - likely benign g.142224044G>A - ATR(NM_001184.3):c.5133C>T (p.S1711=) - ATR_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.5208T>C r.(?) p.(Tyr1736=) - benign g.142222284A>G g.142503442A>G ATR(NM_001184.3):c.5208T>C (p.Y1736=) - ATR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5258T>C r.(?) p.(Ile1753Thr) - VUS g.142222234A>G g.142503392A>G ATR(NM_001184.3):c.5258T>C (p.I1753T) - ATR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5292C>T r.(?) p.(Ser1764=) - likely benign g.142218557G>A - ATR(NM_001184.3):c.5292C>T (p.S1764=) - ATR_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5303A>G r.(?) p.(Asp1768Gly) - VUS g.142218546T>C g.142499704T>C ATR(NM_001184.3):c.5303A>G (p.(Asp1768Gly)) - ATR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. 1 - c.5342T>A r.(?) p.(Leu1781*) - VUS g.142218507A>T g.142499665A>T - - ATR_000079 - PubMed: Lhota 2016 - - Germline - - - - - Zdenek Kleibl
-/. 1 - c.5460T>C r.(?) p.(Tyr1820=) - benign g.142217537A>G g.142498695A>G ATR(NM_001184.3):c.5460T>C (p.Y1820=) - ATR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5559-17G>A r.(=) p.(=) - likely benign g.142216051C>T g.142497209C>T ATR(NM_001184.3):c.5559-17G>A - ATR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 33 c.5635G>T r.spl p.(Asp1879Tyr) - pathogenic (recessive) g.142215958C>A g.142497116C>A - - ATR_000001 variant induces aberrant splicing (not characterised), protein expression is sharply reduced - - - Germline - - - - - REVY
-/. 1 - c.5739-14_5739-9del r.(=) p.(=) - benign g.142215372_142215377del g.142496530_142496535del ATR(NM_001184.3):c.5739-14_5739-9delGTTACT - ATR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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