Full data view for gene HUWE1

Information The variants shown are described using the NM_031407.5 transcript reference sequence.

248 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_84_ c.-426_*1213{2} r.? p.? Unknown - VUS g.5924535G>C g.5864475G>C - - NPHP4_000006 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR, arrayCGH - - autism, BMD/DMD, HD, ID - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_84_ c.-426_*1213{2} r.? p.? Unknown - VUS g.5940243G>A g.5880183G>A - - NPHP4_000002 - - - - Germline - - - - - DNA SEQ-NG, arrayCGH - - ID - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_84_ c.-426_*1213{2} r.? p.? Unknown - VUS g.5940243G>A g.5880183G>A - - NPHP4_000002 - - - - Germline - - - - - DNA SEQ-NG, arrayCGH - - ID - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_84_ c.-426_*1213{2} r.? p.? Unknown - VUS g.5940243G>A g.5880183G>A - - NPHP4_000002 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR, arrayCGH - - HD, ID - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_84_ c.-426_*1213{2} r.? p.? Unknown - VUS g.5940243G>A g.5880183G>A - - NPHP4_000002 - - - - Germline - - - - - DNA SEQ-NG, arrayCGH - - ID - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_84_ c.-426_*1213{2} r.? p.? Unknown - likely pathogenic (recessive) g.5935064T>C g.5875004T>C - - NPHP4_000003 - - - - Germline - - - - - DNA SEQ-NG, SEQ, arrayCGH - WES, BMD/DMD, ID, NDD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_84_ c.-426_*1213{2} r.? p.? Unknown - VUS g.5935064T>C g.5875004T>C - - NPHP4_000003 - - - - Germline - - - - - DNA SEQ-NG, arrayCGH - - ADPKD, ID - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. _1_84_ c.-426_*1213{2} r.? p.? Parent #1 - pathogenic g.(?_53370418)_(53790660_?)dup - hg19 53370418_53790660dup - NPHP4_000002 420kb duplication affecting SMC1A, HUWE1 PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID SBI PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_84_ c.-426_*1213{2} r.? p.? Parent #1 - pathogenic g.(?_53382387)_(53723240_?)dup - hg19 53382387_53723240dup - NPHP4_000002 340kb duplication affecting SMC1A, HUWE1 PubMed: Froyen 2008, PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID Fam3 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_84_ c.-426_*1213{2} r.? p.? Parent #1 - pathogenic g.(?_53392906)_(53770862_?)dup - hg19 53392906_53770862dup - NPHP4_000002 377kb duplication affecting SMC1A, HUWE1 PubMed: Donnelly 1996, PubMed: Froyen 2008, PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID A049/MRX31 PubMed: Donnelly 1996, PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - Australia - - - - - 1 Johan den Dunnen
+/. _1_84_ c.-426_*1213{2} r.? p.? Parent #1 - pathogenic g.(?_53440683)_(53847402_?)dup - hg19 53440683_53847402dup - NPHP4_000002 406kb duplication affecting HUWE1 PubMed: Froyen 2008, PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID P083 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_84_ c.-426_*1213{2} r.? p.? Parent #1 - pathogenic g.(?_53484944)_(53957220_?)dup - hg19 53484944_53957220dup - NPHP4_000002 472kb duplication affecting HUWE1 PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID EX469 PubMed: Froyen 2012, PubMed: Moey 2015 - M - - - - - - - 1 Johan den Dunnen
-/. - c.-162-5dup r.spl? p.? Unknown - benign g.53707152dup g.53680199dup HUWE1(NM_031407.6):c.-162-5_-162-4insT - HUWE1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.-24-113_*110937dup r.0 p.0 Maternal (confirmed) - pathogenic g.53449333_53681188dup - - - HSD17B10_000011 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. _7i_84_ c.(?_505-1518)_*1213{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52825617)_(53662768_?)dup - hg19 52825617_53662768dup - HUWE1_000176 837kb duplication affecting TSPYL2, KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Froyen 2008, PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID Decipher249420/A119 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.89A>T r.(?) p.(Asn30Ile) Unknown - VUS g.53675210T>A - HUWE1(NM_031407.7):c.89A>T (p.(Asn30Ile)) - HUWE1_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(=) p.(=) Parent #1 - likely benign g.53674515G>A g.53647572G>A C49C - HUWE1_000075 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.227C>T r.(?) p.(Ser76Leu) Unknown - VUS g.53674435G>A g.53647492G>A HUWE1(NM_031407.5):c.227C>T (p.(Ser76Leu)) - HUWE1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238G>A r.(?) p.(Val80Ile) Unknown - likely benign g.53674424C>T g.53647481C>T HUWE1(NM_031407.7):c.238G>A (p.V80I) - HUWE1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.328C>T r.(?) p.(Arg110Trp) Unknown - VUS g.53674334G>A g.53647391G>A - - HUWE1_000016 - PubMed: Taylor 2015 - - De novo - - - - - DNA SEQ-NG-I Blood - CRS - PubMed: Taylor 2015 - M no - Middle East - - - - 1 Kerry Miller
+?/. 6 c.328C>T r.(?) p.(Arg110Trp) Maternal (confirmed) - likely pathogenic g.53674334G>A g.53647391G>A - - HUWE1_000016 - - - - Germline - - - - - DNA SEQ-NG-I blood - MRXST - - - M no Czech Republic white - - - - 1 Jana Paderova
+?/. - c.328C>T r.(?) p.(Arg110Trp) Unknown - likely pathogenic g.53674334G>A g.53647391G>A HUWE1(NM_031407.7):c.328C>T (p.R110W) - HUWE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.328C>T r.(?) p.(Arg110Trp) Unknown - VUS g.53674334G>A g.53647391G>A - - HUWE1_000016 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio99 PubMed: Zhu 2015 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.328C>T r.(?) p.(Arg110Trp) Unknown - likely pathogenic g.53674334G>A - HUWE1(NM_031407.7):c.328C>T (p.R110W) - HUWE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.329G>A r.(?) p.(Arg110Gln) Unknown - likely pathogenic g.53674333C>T g.53647390C>T - - HUWE1_000015 - PubMed: Taylor 2015 - - De novo yes - - - - DNA SEQ-NG-I Blood - CRS - PubMed: Taylor 2015 - F no - white - - - - 1 Kerry Miller
+/. - c.329G>A r.(?) p.(Arg110Gln) Unknown - pathogenic g.53674333C>T g.53647390C>T - - HUWE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411C>G r.(?) p.(Leu137=) Unknown - likely benign g.53672356G>C - HUWE1(NM_031407.6):c.411C>G (p.L137=) - HUWE1_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449G>A r.(?) p.(Arg150His) Unknown - VUS g.53672318C>T g.53645366C>T HUWE1(NM_031407.6):c.449G>A (p.R150H) - HUWE1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646-18T>C r.(=) p.(=) Unknown - likely benign g.53658584A>G g.53631632A>G HUWE1(NM_031407.7):c.646-18T>C - HUWE1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.648_650del r.(?) p.(Thr217del) Unknown - VUS g.53658564_53658566del - HUWE1(NM_031407.7):c.648_650del (p.(Thr217del)) - HUWE1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.654T>C r.(?) p.(Ser218=) Unknown - likely benign g.53658558A>G - HUWE1(NM_031407.6):c.654T>C (p.S218=) - HUWE1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>A r.(?) p.(Asp252Asn) Unknown - VUS g.53658374C>T g.53631422C>T HUWE1(NM_031407.5):c.754G>A (p.(Asp252Asn)), HUWE1(NM_031407.6):c.754G>A (p.D252N), HUWE1(NM_031407.7):c.754G>A (p.D252N) - HUWE1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754G>A r.(?) p.(Asp252Asn) Unknown - likely benign g.53658374C>T g.53631422C>T HUWE1(NM_031407.5):c.754G>A (p.(Asp252Asn)), HUWE1(NM_031407.6):c.754G>A (p.D252N), HUWE1(NM_031407.7):c.754G>A (p.D252N) - HUWE1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754G>A r.(?) p.(Asp252Asn) Unknown - likely benign g.53658374C>T g.53631422C>T HUWE1(NM_031407.5):c.754G>A (p.(Asp252Asn)), HUWE1(NM_031407.6):c.754G>A (p.D252N), HUWE1(NM_031407.7):c.754G>A (p.D252N) - HUWE1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.785G>A r.(?) p.(Arg262Gln) Unknown - VUS g.53657964C>T - - - HUWE1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963+4A>C r.spl? p.? Unknown - likely benign g.53656463T>G - HUWE1(NM_031407.7):c.963+4A>C - HUWE1_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.979T>A r.(?) p.(Ser327Thr) Unknown - likely pathogenic g.53655838A>T g.53628887A>T - - HUWE1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1112T>C r.(?) p.(Ile371Thr) Unknown - VUS g.53655705A>G - HUWE1(NM_031407.5):c.1112T>C (p.(Ile371Thr)) - HUWE1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115-4G>A r.spl? p.? Unknown - likely benign g.53655575C>T g.53628624C>T HUWE1(NM_031407.5):c.1115-4G>A (p.?) - HUWE1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188C>T r.(?) p.(Tyr396=) Unknown - likely benign g.53655498G>A g.53628547G>A HUWE1(NM_031407.6):c.1188C>T (p.Y396=) - HUWE1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1242+4C>T r.spl? p.? Unknown - VUS g.53655440G>A g.53628489G>A HUWE1(NM_031407.5):c.1242+4C>T (p.?), HUWE1(NM_031407.6):c.1242+4C>T, HUWE1(NM_031407.7):c.1242+4C>T - HUWE1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242+4C>T r.spl? p.? Unknown - likely benign g.53655440G>A g.53628489G>A HUWE1(NM_031407.5):c.1242+4C>T (p.?), HUWE1(NM_031407.6):c.1242+4C>T, HUWE1(NM_031407.7):c.1242+4C>T - HUWE1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242+4C>T r.spl? p.? Unknown - likely benign g.53655440G>A g.53628489G>A HUWE1(NM_031407.5):c.1242+4C>T (p.?), HUWE1(NM_031407.6):c.1242+4C>T, HUWE1(NM_031407.7):c.1242+4C>T - HUWE1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1416G>A r.(?) p.(Pro472=) Unknown - likely benign g.53654434C>T g.53627483C>T HUWE1(NM_031407.7):c.1416G>A (p.P472=) - HUWE1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1448A>G r.(?) p.(Asn483Ser) Unknown - benign g.53654402T>C g.53627451T>C HUWE1(NM_031407.7):c.1448A>G (p.N483S) - HUWE1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1448A>G r.(?) p.(Asn483Ser) Parent #1 - VUS g.53654402T>C g.53627451T>C N483S - HUWE1_000054 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. - c.1489+9_1489+10del r.(=) p.(=) Unknown - likely benign g.53654352_53654353del g.53627401_53627402del HUWE1(NM_031407.6):c.1489+9_1489+10delCA - HUWE1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1506A>G r.(?) p.(Pro502=) Unknown - likely benign g.53652203T>C - HUWE1(NM_031407.6):c.1506A>G (p.P502=) - HUWE1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1612A>T r.(?) p.(Thr538Ser) Unknown - VUS g.53651616T>A g.53624655T>A - - HUWE1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1673-12A>C r.(=) p.(=) Unknown - likely benign g.53644419T>G - HUWE1(NM_031407.7):c.1673-12A>C - HUWE1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1736A>G r.(?) p.(Asn579Ser) Unknown - VUS g.53644344T>C g.53617383T>C - - HUWE1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.2007T>G r.(?) p.(His669Gln) Unknown - pathogenic g.53642747A>C g.53615786A>C - - HUWE1_000014 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.2109A>G r.(?) p.(Ser703=) Unknown - benign g.53641647T>C g.53614686T>C HUWE1(NM_031407.7):c.2109A>G (p.S703=) - HUWE1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2109A>G r.(=) p.(=) Parent #1 - likely benign g.53641647T>C g.53614686T>C S703S - HUWE1_000053 recurrent, found 97 times PubMed: Tarpey 2009 - - Germline - 97/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 97 Lucy Raymond
-?/. - c.2280A>G r.(?) p.(Glu760=) Unknown - likely benign g.53635852T>C g.53608891T>C HUWE1(NM_031407.6):c.2280A>G (p.E760=) - HUWE1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2282G>A r.(?) p.(Arg761His) Unknown - VUS g.53635850C>T - HUWE1(NM_031407.7):c.2282G>A (p.R761H) - HUWE1_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2384A>C r.(?) p.(Asn795Thr) Unknown - benign g.53634596T>G g.53607635T>G HUWE1(NM_031407.5):c.2384A>C (p.(Asn795Thr)), HUWE1(NM_031407.6):c.2384A>C (p.N795T) - HUWE1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2384A>C r.(?) p.(Asn795Thr) Unknown - VUS g.53634596T>G g.53607635T>G HUWE1(NM_031407.5):c.2384A>C (p.(Asn795Thr)), HUWE1(NM_031407.6):c.2384A>C (p.N795T) - HUWE1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2387A>T r.(?) p.(Gln796Leu) Unknown - VUS g.53634593T>A g.53607632T>A HUWE1(NM_031407.5):c.2387A>T (p.(Gln796Leu)), HUWE1(NM_031407.7):c.2387A>T (p.Q796L) - HUWE1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2387A>T r.(?) p.(Gln796Leu) Unknown - VUS g.53634593T>A - HUWE1(NM_031407.5):c.2387A>T (p.(Gln796Leu)), HUWE1(NM_031407.7):c.2387A>T (p.Q796L) - HUWE1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 25 c.2429A>C r.(?) p.(Asn810Thr) Maternal (confirmed) - pathogenic g.53634551T>G g.53607590T>G - - HUWE1_000013 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.2570C>T r.(?) p.(Pro857Leu) Unknown - likely benign g.53631722G>A g.53604761G>A HUWE1(NM_031407.6):c.2570C>T (p.P857L) - HUWE1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2570C>T r.(?) p.(Pro857Leu) Unknown - VUS g.53631722G>A g.53604761G>A HUWE1(NM_031407.6):c.2570C>T (p.P857L) - HUWE1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2614C>A r.(?) p.(Arg872=) Unknown - likely benign g.53631678G>T g.53604717G>T HUWE1(NM_031407.6):c.2614C>A (p.R872=), HUWE1(NM_031407.7):c.2614C>A (p.R872=) - HUWE1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2614C>A r.(?) p.(Arg872=) Unknown - likely benign g.53631678G>T g.53604717G>T HUWE1(NM_031407.6):c.2614C>A (p.R872=), HUWE1(NM_031407.7):c.2614C>A (p.R872=) - HUWE1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2615G>A r.(?) p.(Arg872Gln) Unknown - VUS g.53631677C>T g.53604716C>T - - HUWE1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2636A>G r.(?) p.(Asn879Ser) Unknown - VUS g.53631656T>C g.53604695T>C HUWE1(NM_031407.5):c.2636A>G (p.(Asn879Ser)), HUWE1(NM_031407.6):c.2636A>G (p.N879S) - HUWE1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2636A>G r.(?) p.(Asn879Ser) Unknown - likely benign g.53631656T>C - HUWE1(NM_031407.5):c.2636A>G (p.(Asn879Ser)), HUWE1(NM_031407.6):c.2636A>G (p.N879S) - HUWE1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2655C>T r.(=) p.(=) Parent #1 - likely benign g.53631637G>A g.53604676G>A L885L - HUWE1_000074 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.2655C>T r.(?) p.(Leu885=) Unknown - likely benign g.53631637G>A - HUWE1(NM_031407.6):c.2655C>T (p.L885=) - HUWE1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3017A>G r.(?) p.(Gln1006Arg) Unknown - VUS g.53627224T>C - HUWE1(NM_031407.5):c.3017A>G (p.(Gln1006Arg)) - HUWE1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3082A>G r.(?) p.(Thr1028Ala) Unknown - likely benign g.53627159T>C g.53600199T>C HUWE1(NM_031407.5):c.3082A>G (p.(Thr1028Ala)), HUWE1(NM_031407.6):c.3082A>G (p.T1028A), HUWE1(NM_031407.7):c.3082A>G (p.T1028A) - HUWE1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3082A>G r.(?) p.(Thr1028Ala) Unknown - likely benign g.53627159T>C g.53600199T>C HUWE1(NM_031407.5):c.3082A>G (p.(Thr1028Ala)), HUWE1(NM_031407.6):c.3082A>G (p.T1028A), HUWE1(NM_031407.7):c.3082A>G (p.T1028A) - HUWE1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3082A>G r.(?) p.(Thr1028Ala) Unknown - likely benign g.53627159T>C g.53600199T>C HUWE1(NM_031407.5):c.3082A>G (p.(Thr1028Ala)), HUWE1(NM_031407.6):c.3082A>G (p.T1028A), HUWE1(NM_031407.7):c.3082A>G (p.T1028A) - HUWE1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3114C>T r.(?) p.(Ile1038=) Unknown - likely benign g.53627127G>A g.53600167G>A HUWE1(NM_031407.6):c.3114C>T (p.I1038=) - HUWE1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3164-17T>G r.(=) p.(=) Unknown - VUS g.53622380A>C - - - HUWE1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3204A>G r.(?) p.(Gly1068=) Unknown - likely benign g.53622323T>C - HUWE1(NM_031407.6):c.3204A>G (p.G1068=) - HUWE1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3292G>A r.(?) p.(Ala1098Thr) Unknown - VUS g.53622235C>T - HUWE1(NM_031407.7):c.3292G>A (p.A1098T) - HUWE1_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3465A>G r.(?) p.(Gln1155=) Unknown - likely benign g.53621497T>C - HUWE1(NM_031407.7):c.3465A>G (p.Q1155=) - HUWE1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3520C>G r.(?) p.(Leu1174Val) Unknown - VUS g.53620545G>C g.53593585G>C HUWE1(NM_031407.7):c.3520C>G (p.L1174V) - HUWE1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3574C>T r.(?) p.(Pro1192Ser) Unknown - VUS g.53620491G>A - HUWE1(NM_031407.7):c.3574C>T (p.P1192S) - HUWE1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3663G>A r.(?) p.(Ser1221=) Unknown - likely benign g.53620402C>T g.53593442C>T HUWE1(NM_031407.6):c.3663G>A (p.S1221=), HUWE1(NM_031407.7):c.3663G>A (p.S1221=) - HUWE1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3663G>A r.(?) p.(Ser1221=) Unknown - likely benign g.53620402C>T - HUWE1(NM_031407.6):c.3663G>A (p.S1221=), HUWE1(NM_031407.7):c.3663G>A (p.S1221=) - HUWE1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3663G>A r.(?) p.(Ser1221=) Unknown - likely benign g.53620402C>T - HUWE1(NM_031407.6):c.3663G>A (p.S1221=), HUWE1(NM_031407.7):c.3663G>A (p.S1221=) - HUWE1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3712G>T r.(?) p.(Ala1238Ser) Unknown - VUS g.53620353C>A - HUWE1(NM_031407.6):c.3712G>T (p.A1238S) - HUWE1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3714A>T r.(?) p.(Ala1238=) Unknown - likely benign g.53620351T>A g.53593391T>A HUWE1(NM_031407.6):c.3714A>T (p.A1238=) - HUWE1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3786del r.(?) p.(Lys1263ArgfsTer24) Unknown - likely pathogenic g.53619544del g.53592584del HUWE1(NM_031407.6):c.3786delG (p.K1263Rfs*24) - HUWE1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3972+6G>A r.(=) p.(=) Unknown - likely benign g.53619352C>T - HUWE1(NM_031407.7):c.3972+6G>A - HUWE1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 34 c.4073_4074insGGA r.(4073_4074insGGA) p.(Pro1358_Ile1359insGlu) Unknown ACMG likely pathogenic g.53617981_53617982insTCC g.53591021_53591022insTCC - - HUWE1_000213 ACMG: PS2_MOD, PM4, PM2_SUP, PP2 - - - De novo - - - - - DNA SEQ-NG-I Blood - MRXST - - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.4290G>A r.(?) p.(Pro1430=) Unknown - likely benign g.53616678C>T g.53589718C>T HUWE1(NM_031407.6):c.4290G>A (p.P1430=) - HUWE1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4305G>T r.(?) p.(Glu1435Asp) Unknown - VUS g.53616663C>A - HUWE1(NM_031407.7):c.4305G>T (p.E1435D) - HUWE1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4324A>G r.(?) p.(Thr1442Ala) Unknown - likely benign g.53616644T>C g.53589684T>C HUWE1(NM_031407.5):c.4324A>G (p.(Thr1442Ala)) - HUWE1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4356T>A r.(?) p.(Asp1452Glu) Unknown - VUS g.53616612A>T - HUWE1(NM_031407.7):c.4356T>A (p.D1452E) - HUWE1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4461+2T>C r.spl? p.? Unknown - VUS g.53616505A>G g.53589545A>G - - HUWE1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4503C>T r.(?) p.(Pro1501=) Unknown - likely benign g.53615453G>A g.53588493G>A HUWE1(NM_031407.6):c.4503C>T (p.P1501=) - HUWE1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4527C>T r.(?) p.(Thr1509=) Unknown - likely benign g.53615429G>A g.53588469G>A HUWE1(NM_031407.6):c.4527C>T (p.T1509=), HUWE1(NM_031407.7):c.4527C>T (p.T1509=) - HUWE1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4527C>T r.(?) p.(Thr1509=) Unknown - likely benign g.53615429G>A - HUWE1(NM_031407.6):c.4527C>T (p.T1509=), HUWE1(NM_031407.7):c.4527C>T (p.T1509=) - HUWE1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4825-20C>G r.(=) p.(=) Unknown - likely benign g.53612168G>C g.53585208G>C HUWE1(NM_031407.7):c.4825-20C>G - HUWE1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4827C>T r.(?) p.(Tyr1609=) Unknown - likely benign g.53612146G>A g.53585186G>A HUWE1(NM_031407.6):c.4827C>T (p.Y1609=), HUWE1(NM_031407.7):c.4827C>T (p.Y1609=) - HUWE1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4827C>T r.(?) p.(Tyr1609=) Unknown - likely benign g.53612146G>A - HUWE1(NM_031407.6):c.4827C>T (p.Y1609=), HUWE1(NM_031407.7):c.4827C>T (p.Y1609=) - HUWE1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.