Unique variants in the NHS gene

Information The variants shown are described using the NM_198270.2 transcript reference sequence.

108 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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 - c.106C>T r.(?) p.(Pro36Ser) - VUS g.17393986C>T g.17375863C>T - - NHS_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.152C>T r.(?) p.(Ala51Val) - VUS g.17394032C>T - NHS(NM_001291867.1):c.152C>T (p.A51V) - NHS_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.176G>A r.(?) p.(Arg59His) - VUS g.17394056G>A g.17375933G>A NHS(NM_001291867.1):c.176G>A (p.R59H) - NHS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.177C>A r.(?) p.(Arg59=) - likely benign g.17394057C>A g.17375934C>A NHS(NM_001291867.1):c.177C>A (p.R59=) - NHS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.190C>T r.(?) p.(Pro64Ser) - VUS g.17394070C>T - NHS(NM_001291867.1):c.190C>T (p.P64S) - NHS_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.211C>T r.(?) p.(Pro71Ser) - likely benign g.17394091C>T g.17375968C>T NHS(NM_001291867.1):c.211C>T (p.P71S), NHS(NM_198270.2):c.211C>T (p.(Pro71Ser)) - NHS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.216_218del r.(?) p.(Pro73del) - likely benign, VUS g.17394096_17394098del g.17375973_17375975del NHS(NM_198270.2):c.205_207del (p.(Pro73del)) - NHS_000092 no genotypes reported, VKGL data sharing initiative Nederland PubMed: Sergouniotis 2016 - rs10590816 CLASSIFICATION record, Germline - 1/181 individuals - - - VKGL-NL_Leiden
+/. 1 - c.245dup r.(?) p.(Pro83Alafs*100) - pathogenic g.17394125dup g.17376002dup NHS c.245dup, p.(Arg3659Ter) - NHS_000127 hemizygous PubMed: Bell 2021 - - Germline yes - - - - LOVD
-/., ?/. 3 - c.310_345del r.(?) p.(Pro104_Ala115del) - benign, VUS g.17394190_17394225del g.17376067_17376102del 1 more item - NHS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.348_350del r.(?) p.(Ala117del) - VUS g.17394228_17394230del g.17376105_17376107del NHS(NM_001291867.1):c.348_350delGGC (p.A117del) - NHS_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.353T>C r.(?) p.(Val118Ala) - likely benign g.17394233T>C - NHS(NM_001291867.1):c.353T>C (p.V118A) - NHS_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.513C>T r.(?) p.(Leu171=) - likely benign g.17394393C>T g.17376270C>T NHS(NM_001291867.1):c.513C>T (p.L171=) - NHS_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.546C>G r.(?) p.(Asp182Glu) - VUS g.17394426C>G g.17376303C>G NHS(NM_001291867.1):c.546C>G (p.D182E) - NHS_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.565+7A>C r.(=) p.(=) - likely benign g.17394452A>C g.17376329A>C NHS(NM_198270.4):c.565+7A>C - NHS_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 1i c.566-93365G>A r.(=) p.(=) - VUS g.17612497G>A g.17594376G>A - - NHS_000015 - - - - Germline - - - - - Yu Sun
-?/. 2 - c.566-52165C>T r.(=) p.(=) - likely benign g.17653697C>T g.17635577C>T NHS(NM_001136024.2):c.11C>T (p.(Ala4Val)), NHS(NM_001136024.3):c.11C>T (p.A4V) - NHS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.566-52157A>T r.(=) p.(=) - VUS g.17653705A>T g.17635585A>T NHS(NM_001136024.2):c.19A>T (p.(Met7Leu)) - NHS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.566-52142G>A r.(=) p.(=) - VUS g.17653720G>A - NHS(NM_001136024.3):c.34G>A (p.A12T) - NHS_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 5 1i c.566-10dup r.(=) p.(=) - benign, VUS g.17705852dup g.17687732dup NHS(NM_198270.4):c.566-8dupT - NHS_000011, NHS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Groningen
-?/. 2 - c.566-5T>C r.spl? p.? - likely benign g.17705857T>C g.17687737T>C NHS(NM_001136024.2):c.35-5T>C (p.?), NHS(NM_001291867.2):c.566-5T>C - NHS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.568G>A r.(?) p.(Val190Ile) - VUS g.17705864G>A g.17687744G>A NHS(NM_001136024.2):c.37G>A (p.(Val13Ile)) - NHS_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.609C>A r.(?) p.(Tyr203Ter) - pathogenic g.17705905C>A g.17687785C>A - - NHS_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.663del r.(?) p.(Cys222Alafs*62) - pathogenic g.17705959del - NHS(NM_001291867.2):c.663delC (p.C222Afs*62) - NHS_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.683G>A r.(?) p.(Arg228His) - likely benign g.17705979G>A g.17687859G>A NHS(NM_001136024.2):c.152G>A (p.(Arg51His)) - NHS_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.688G>A r.(?) p.(Ala230Thr) - likely benign g.17705984G>A g.17687864G>A NHS(NM_001291867.1):c.688G>A (p.A230T) - NHS_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.694C>T r.(?) p.(Gln232*) - pathogenic g.17705990C>T g.17687870C>T NM_001136024.3:c.163C>T - NHS_000103 - PubMed: Fieremans 2016 - - De novo - - - - skewed X-inactivation (5:95 pat:mat) Johan den Dunnen
?/. 1 2i c.719-102del r.(=) p.(=) - VUS g.17710353del g.17692233del - - NHS_000010 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.739C>T r.(?) p.(Arg247Cys) - likely benign, VUS g.17710475C>T g.17692355C>T NHS(NM_001291867.1):c.739C>T (p.R247C), NHS(NM_001291867.2):c.739C>T (p.R247C) - NHS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 - c.765C>G r.(=), r.(?) p.(=), p.(Pro255=) - likely benign g.17710501C>G g.17692381C>G NHS(NM_001291867.1):c.765C>G (p.P255=), P255P - NHS_000066 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
+/. 1 3 c.766dup r.(?) p.(Leu256Profs*21) ACMG likely pathogenic (dominant) g.17710502dup - - - NHS_000112 ACMG: PVS1, PM2: class 4 - - - Germline ? - - - - Andreas Laner
-?/. 1 - c.828G>A r.(?) p.(Glu276=) - likely benign g.17710564G>A - NHS(NM_001291867.1):c.828G>A (p.E276=) - NHS_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.842A>G r.(?) p.(His281Arg) - VUS g.17710578A>G g.17692458A>G NHS(NM_001291867.1):c.842A>G (p.H281R) - NHS_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.852G>A r.(?) p.(Thr284=) - likely benign g.17710588G>A g.17692468G>A NHS(NM_001136024.2):c.321G>A (p.(=)) - NHS_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.853-2A>G r.spl? p.? - pathogenic g.17739559A>G g.17721439A>G - - NHS_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.985G>T r.(?) p.(Glu329*) - likely pathogenic g.17739693G>T g.17721573G>T NHS(NM_198270.2):c.985G>T(p.E329*) - NHS_000121 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 186 - - - LOVD
+/. 1 - c.1044del r.(?) p.(Gly349GlufsTer27) - pathogenic g.17739752del g.17721632del - - NHS_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1045+6G>A r.(=) p.(=) - likely benign g.17739759G>A - NHS(NM_001291867.1):c.1108+6G>A - NHS_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1112G>A r.(?) p.(Arg371Gln) - likely benign g.17742485G>A g.17724365G>A NHS(NM_001291867.1):c.1175G>A (p.R392Q) - NHS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1117C>T r.(?) p.(Arg373Ter) - pathogenic g.17742490C>T g.17724370C>T - - NHS_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1146G>A r.(?) p.(Ser382=) - VUS g.17742519G>A - NHS(NM_001291867.1):c.1209G>A (p.S403=) - NHS_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1255A>G r.(?) p.(Arg419Gly) - likely benign, VUS g.17743544A>G g.17725424A>G NHS(NM_001291867.1):c.1318A>G (p.R440G) - NHS_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1308T>C r.(?) p.(Ala436=) - likely benign g.17743597T>C g.17725477T>C NHS(NM_001291867.1):c.1371T>C (p.A457=) - NHS_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1408G>A r.(?) p.(Asp470Asn) - likely benign, VUS g.17743697G>A g.17725577G>A NHS(NM_001291867.2):c.1471G>A (p.D491N) - NHS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 6 c.1438C>T r.(?) p.(Arg480Cys) - VUS g.17743727C>T g.17725607C>T - - NHS_000120 - PubMed: Ganapathy 2019 - rs770144581 Germline - - - - - Johan den Dunnen
./. 1 - c.1450C>T r.(?) p.(Arg484Trp) - likely pathogenic g.17743739C>T g.17725619C>T NHS R484W - NHS_000072 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.1503C>T r.(?) p.(Gly501=) - likely benign g.17743792C>T g.17725672C>T NHS(NM_001291867.1):c.1566C>T (p.G522=) - NHS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1533G>A r.(?) p.(Glu511=) - likely benign g.17743822G>A g.17725702G>A NHS(NM_001291867.1):c.1596G>A (p.E532=) - NHS_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1560C>T r.(?) p.(Thr520=) - likely benign g.17743849C>T - NHS(NM_001291867.1):c.1623C>T (p.T541=) - NHS_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1562del r.(?) p.(Pro521Leufs*35) - likely pathogenic g.17743851del g.17725731del NHS c.1625del, p.(Trp45Leu) - NHS_000128 1 more item PubMed: Bell 2021 - - Germline yes - - - - LOVD
-/., -?/., ?/. 5 - c.1651C>T r.(?) p.(Pro551Ser) - benign, likely benign, VUS g.17743940C>T g.17725820C>T NHS(NM_001136024.2):c.1183C>T (p.(Pro395Ser)), NHS(NM_198270.4):c.1651C>T (p.P551S) - NHS_000035 13 heterozygous; Clinindb (India), 8 homozygous; Clinindb (India), recurrent, found 3 times, 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Tarpey 2009 - rs150688899 CLASSIFICATION record, Germline - 13/2795 individuals, 3/208 cases, 8/2795 individuals - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
-/. 1 - c.1655A>C r.(?) p.(Gln552Pro) - benign g.17743944A>C g.17725824A>C NHS(NM_001291867.1):c.1718A>C (p.Q573P) - NHS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1684C>T r.(?) p.(Arg562Cys) - likely benign g.17743973C>T - NHS(NM_001291867.1):c.1747C>T (p.R583C) - NHS_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1772C>T r.(?) p.(Thr591Met) - VUS g.17744061C>T - NHS(NM_001291867.1):c.1835C>T (p.T612M) - NHS_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1862C>A r.(?) p.(Pro621His) - VUS g.17744151C>A g.17726031C>A NHS(NM_001291867.1):c.1925C>A (p.P642H) - NHS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2005C>T r.(?) p.(His669Tyr) - VUS g.17744294C>T g.17726174C>T NHS(NM_001291867.1):c.2068C>T (p.H690Y) - NHS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 - c.2056G>T r.(?) p.(Ala686Ser) - likely pathogenic, VUS g.17744345G>T g.17726225G>T c.2056G>T, p.(Ala686Ser), NHS(NM_001291867.1):c.2119G>T (p.A707S) - NHS_000125 hemizygous, VKGL data sharing initiative Nederland PubMed: Wang 2019 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2109T>A r.(?) p.(Asn703Lys) - likely benign g.17744398T>A g.17726278T>A NHS(NM_001291867.1):c.2172T>A (p.N724K) - NHS_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2214T>C r.(?) p.(Tyr738=) - likely benign g.17744503T>C g.17726383T>C NHS(NM_001291867.1):c.2277T>C (p.Y759=) - NHS_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2234C>T r.(?) p.(Ser745Phe) - VUS g.17744523C>T g.17726403C>T NHS(NM_001136024.2):c.1766C>T (p.(Ser589Phe)) - NHS_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 4 - c.2267T>C r.(?) p.(Phe756Ser) - likely benign, VUS g.17744556T>C g.17726436T>C 1 more item - NHS_000067 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.2418G>A r.(=) p.(=) - likely benign g.17744707G>A g.17726587G>A Q806Q - NHS_000068 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/., ?/. 3 - c.2530G>A r.(?) p.(Ala844Thr) - likely benign, VUS g.17744819G>A g.17726699G>A NHS(NM_001136024.2):c.2062G>A (p.(Ala688Thr)), NHS(NM_001291867.1):c.2593G>A (p.A865T) - NHS_000041 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.2600T>C r.(?) p.(Met867Thr) - VUS g.17744889T>C g.17726769T>C NHS(NM_001291867.1):c.2663T>C (p.M888T), NHS(NM_001291867.2):c.2663T>C (p.M888T) - NHS_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.2625C>T r.(?) p.(Asn875=) - likely benign g.17744914C>T - NHS(NM_001291867.1):c.2688C>T (p.N896=) - NHS_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2635C>T r.(?) p.(Arg879Ter) - pathogenic g.17744924C>T g.17726804C>T - - NHS_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2646C>T r.(?) p.(Asn882=) - likely benign g.17744935C>T - NHS(NM_001291867.1):c.2709C>T (p.N903=) - NHS_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2657C>T r.(?) p.(Pro886Leu) - VUS g.17744946C>T g.17726826C>T NHS(NM_001291867.1):c.2720C>T (p.P907L) - NHS_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2699G>A r.(?) p.(Gly900Asp) - likely benign g.17744988G>A g.17726868G>A NHS(NM_001291867.1):c.2762G>A (p.G921D) - NHS_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2728G>T r.(?) p.(Asp910Tyr) - likely benign g.17745017G>T g.17726897G>T NHS(NM_001291867.1):c.2791G>T (p.D931Y) - NHS_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.2768A>T r.(?) p.(His923Leu) - benign, VUS g.17745057A>T g.17726937A>T NHS(NM_001136024.2):c.2300A>T (p.(His767Leu)), NHS(NM_001291867.1):c.2831A>T (p.H944L) - NHS_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.2789T>G r.(?) p.(Leu930Arg) - VUS g.17745078T>G g.17726958T>G - - NHS_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2896C>T r.(?) p.(Gln966Ter) - pathogenic g.17745185C>T g.17727065C>T - - NHS_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.3019C>T r.(?) p.(Gln1007*) - pathogenic g.17745308C>T g.17727188C>T - - NHS_000012 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.3078C>T r.(?) p.(Pro1026=) - likely benign g.17745367C>T g.17727247C>T NHS(NM_001291867.1):c.3141C>T (p.P1047=) - NHS_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3117A>G r.(?) p.(Lys1039=) - likely benign g.17745406A>G - NHS(NM_001291867.1):c.3180A>G (p.K1060=) - NHS_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3127C>T r.(?) p.(Gln1043Ter) ACMG pathogenic g.17745416C>T g.17727296C>T NHS c.3127C>T p.(Gln1043Ter) hemi [de novo] - NHS_000126 hemizygous PubMed: Lenassi 2020 - - De novo ? - - - - LOVD
-?/. 1 - c.3138T>C r.(=) p.(=) - likely benign g.17745427T>C g.17727307T>C S1046S - NHS_000069 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.3141A>G r.(=) p.(=) - likely benign g.17745430A>G g.17727310A>G L1047L - NHS_000070 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-/. 1 - c.3152C>T r.(?) p.(Thr1051Ile) - benign g.17745441C>T g.17727321C>T NHS(NM_001291867.1):c.3215C>T (p.T1072I) - NHS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3253C>T r.(?) p.(His1085Tyr) - VUS g.17745542C>T g.17727422C>T NHS(NM_001291867.1):c.3316C>T (p.H1106Y) - NHS_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3311C>T r.(?) p.(Ser1104Leu) - likely benign g.17745600C>T g.17727480C>T NHS(NM_001291867.1):c.3374C>T (p.S1125L) - NHS_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3324G>A r.(?) p.(Pro1108=) - likely benign g.17745613G>A g.17727493G>A NHS(NM_001291867.1):c.3387G>A (p.P1129=) - NHS_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3335T>C r.(?) p.(Ile1112Thr) - VUS g.17745624T>C g.17727504T>C NHS(NM_001136024.2):c.2867T>C (p.(Ile956Thr)) - NHS_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3345G>A r.(?) p.(Thr1115=) - likely benign g.17745634G>A g.17727514G>A NHS(NM_001291867.1):c.3408G>A (p.T1136=) - NHS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3452C>T r.(?) p.(Thr1151Met) - VUS g.17745741C>T g.17727621C>T NHS(NM_001291867.1):c.3515C>T (p.T1172M) - NHS_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3469A>G r.(?) p.(Ser1157Gly) - likely benign g.17745758A>G - NHS(NM_001291867.1):c.3532A>G (p.S1178G) - NHS_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.3722C>T r.(?) p.(Thr1241Met) - likely benign, VUS g.17746011C>T g.17727891C>T NHS(NM_001136024.2):c.3254C>T (p.(Thr1085Met)), NHS(NM_001291867.1):c.3785C>T (p.T1262M) - NHS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.3778C>T r.(?) p.(Arg1260Cys) - likely benign g.17746067C>T g.17727947C>T NHS(NM_001136024.2):c.3310C>T (p.(Arg1104Cys)) - NHS_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.3813T>G r.(?) p.(Tyr1271Ter) - pathogenic g.17746102T>G g.17727982T>G - - NHS_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 3 - c.3866G>T r.(?) p.(Gly1289Val) - benign, likely benign, VUS g.17746155G>T g.17728035G>T NHS(NM_001136024.2):c.3398G>T (p.(Gly1133Val)), NHS(NM_001291867.1):c.3929G>T (p.G1310V) - NHS_000048 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 6 c.3883C>T r.(?) p.(Gln1295*) - likely pathogenic g.17746172C>T g.17728052C>T - - NHS_000016 - - - - Germline - - - - - Molka Kammoun
?/. 1 - c.3932G>A r.(?) p.(Arg1311Lys) - VUS g.17746221G>A - NHS(NM_001291867.1):c.3995G>A (p.R1332K) - NHS_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3955T>C r.(?) p.(Phe1319Leu) - VUS g.17746244T>C g.17728124T>C - - NHS_000071 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - Lucy Raymond
-?/., ?/. 2 - c.3988G>A r.(?) p.(Asp1330Asn) - likely benign, VUS g.17746277G>A g.17728157G>A NHS(NM_001291867.1):c.4051G>A (p.D1351N), NHS(NM_001291867.2):c.4051G>A (p.D1351N) - NHS_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.4024A>G r.(?) p.(Ile1342Val) - VUS g.17746313A>G g.17728193A>G NHS(NM_001136024.2):c.3556A>G (p.(Ile1186Val)) - NHS_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4058C>G r.(?) p.(Ser1353Cys) - VUS g.17746347C>G g.17728227C>G NHS(NM_001291867.2):c.4121C>G (p.S1374C) - NHS_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.4336C>T r.(?) p.(Arg1446Ter) - VUS g.17750027C>T g.17731907C>T - - NHS_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.4365_4367dup r.(?) p.(Ser1459dup) - VUS g.17750056_17750058dup - NHS(NM_001291867.1):c.4428_4430dupTAG (p.S1480dup) - NHS_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4370_4371del r.(?) p.(Ser1457LysfsTer12) - VUS g.17750061_17750062del g.17731941_17731942del NHS(NM_001291867.1):c.4433_4434delGC (p.S1478Kfs*12) - NHS_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4373del r.(?) p.(Ser1458ThrfsTer13) - VUS g.17750064del g.17731944del NHS(NM_001291867.1):c.4436delG (p.S1479Tfs*13) - NHS_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query   « First ‹ Prev     1 2     Next › Last »