Full data view for gene SUOX

Information The variants shown are described using the NM_001032386.1 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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     
-?/. 3 c.19G>A r.(?) p.(Ala7Thr) Unknown - likely benign g.56396024G>A - SUOX(NM_000456.2):c.19G>A (p.A7T) - SUOX_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3i c.51-7C>T r.(=) p.(=) Unknown - likely benign g.56396320C>T g.56002536C>T SUOX(NM_000456.2):c.51-7C>T (p.(=)) - SUOX_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.119G>A r.(?) p.(Arg40His) Unknown - likely benign g.56396395G>A - SUOX(NM_000456.2):c.119G>A (p.R40H) - IKZF4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.205G>C r.(?) p.(Ala69Pro) Paternal (confirmed) ACMG likely pathogenic (recessive) g.56396481G>C g.56002697G>C g.5518G>C - SUOX_000017 - - - - Germline - - - - - DNA SEQ-NG blood gene panel ISOD SUOX-001 - - M no China Han - - - - 1 Xiangjun Chen
-?/. 4 c.221G>A r.(?) p.(Arg74Gln) Unknown - likely benign g.56396497G>A - SUOX(NM_000456.2):c.221G>A (p.R74Q) - IKZF4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.228G>T r.(?) p.(Arg76Ser) Unknown - VUS g.56396504G>T g.56002720G>T SUOX(NM_000456.2):c.228G>T (p.R76S) - IKZF4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.258dup r.(?) p.(Lys87*) Parent #2 - pathogenic (recessive) g.56397431dup g.56003647dup - - SUOX_000014 ACMG PVS1, PM2, PP3 PubMed: Hong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat22 PubMed: Hong 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.287dup r.(?) p.(Glu97Ter) Parent #1 - pathogenic (recessive) g.56397460dup g.56003676dup 113-114insC - SUOX_000026 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 10254A PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
?/. - c.299T>G r.(?) p.(Ile100Ser) Unknown - VUS g.56397472T>G - SUOX(NM_001032386.2):c.299T>G (p.(Ile100Ser)) - IKZF4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.409T>C r.(?) p.(Trp137Arg) Unknown - VUS g.56397582T>C g.56003798T>C SUOX(NM_000456.2):c.409T>C (p.W137R) - SUOX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475G>A r.(?) p.(Glu159Lys) Unknown - VUS g.56397648G>A - SUOX(NM_001032386.2):c.475G>A (p.(Glu159Lys)) - IKZF4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.520del r.(?) p.(Asp174Thrfs*13) Both (homozygous) ACMG pathogenic g.56397693del g.56003909del - - SUOX_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - ISOD - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.520del r.(?) p.(Asp174Thrfs*13) Both (homozygous) - pathogenic (recessive) g.56397693del g.56003909del - delG1244 SUOX_000001 - PubMed: Seidahmed 2005 - - Germline - - - - - DNA SEQ - - ISOD patient PubMed: Seidahmed 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia Arab - - - - 1 Johan den Dunnen
+/. - c.571del r.(?) p.(Gln191Serfs*13) Parent #1 - pathogenic g.56397744del g.56003960del 571delC - SUOX_000021 - PubMed: Rupar 1996 - - Germline - - - - - DNA SEQ - - ISOD patient PubMed: Rupar 1996, PubMed: Johnson 2002 - - - Canada - 02y08m - - - 1 Johan den Dunnen
+/. - c.571_574del r.(?) p.(Gln191Glyfs*12) Both (homozygous) - pathogenic (recessive) g.56397744_56397747del .56003960_56003963del 400-403delCAGC - SUOX_000024 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD patient PubMed: Johnson 2002 - F - Netherlands - - - - - 1 Johan den Dunnen
-?/. 5 c.621C>T r.(?) p.(Tyr207=) Unknown - likely benign g.56397794C>T g.56004010C>T SUOX(NM_000456.2):c.621C>T (p.Y207=) - IKZF4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.629C>T r.(?) p.(Pro210Leu) Unknown - likely benign g.56397802C>T g.56004018C>T SUOX(NM_000456.2):c.629C>T (p.P210L) - SUOX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.650G>A r.(?) p.(Arg217Gln) Parent #1 - likely pathogenic g.56397823G>A g.56004039G>A - - SUOX_000013 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908007 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 5 c.650G>A r.(?) p.(Arg217Gln) Parent #1 - pathogenic (recessive) g.56397823G>A g.56004039G>A - - SUOX_000013 - PubMed: Hong 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat22 PubMed: Hong 2020 - M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.650G>A r.(?) p.(Arg217Gln) Unknown - pathogenic g.56397823G>A g.56004039G>A g479a (Arg160Gln) - SUOX_000013 - PubMed: Kisker 1997 - rs121908007 Germline - - - - - DNA SEQ - - ISOD Pat1 PubMed: Kisker 1997 - - - - - - - - - 1 Johan den Dunnen
+/. - c.650G>A r.650g>a p.Arg217Gln Both (homozygous) - pathogenic (recessive) g.56397823G>A - G479A (R160Q) - SUOX_000013 - PubMed: Garrett 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ISOD patient PubMed: Garrett 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Netherlands - - - - - 1 Johan den Dunnen
+/. - c.734_737del r.(?) p.(Leu245ProfsTer27) Both (homozygous) - pathogenic (recessive) g.56397907_56397910del g.56004123_56004126del 562-565delCTTT - SUOX_000027 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 6130J PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.772A>C r.(?) p.(Ile258Leu) Parent #2 - pathogenic (recessive) g.56397945A>C - 601A>C (I201L) - SUOX_000025 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD patient PubMed: Rupar 1996, PubMed: Johnson 2002 - - - Canada - 02y08m - - - 1 Johan den Dunnen
+/. - c.794C>A r.(?) p.(Ala265Asp) Unknown - pathogenic g.56397967C>A g.56004183C>A c623a (A208D) - SUOX_000018 - PubMed: Kisker 1997 - - Germline - - - - - DNA SEQ - - ISOD Pat2 PubMed: Kisker 1997 - - - - - - - - - 1 Johan den Dunnen
+/. - c.803G>A r.(?) p.(Arg268Gln) Parent #2 - pathogenic (recessive) g.56397976G>A g.56004192G>A 632A>G (R211Q) - SUOX_000028 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 10254A PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.805C>A r.(?) p.(Arg269Ser) Unknown - likely pathogenic g.56397978C>A - - - SUOX_000038 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.913G>A r.(?) p.(Ala305Thr) Unknown ACMG likely pathogenic g.56398086G>A - - - SUOX_000035 - - - - Unknown - - - - - DNA SEQ-NG - - SIDS SIDS225 - - F - Switzerland Europe 00y03m - - - 1 Cordula Haas
-?/. 5 c.945C>T r.(?) p.(His315=) Unknown - likely benign g.56398118C>T g.56004334C>T SUOX(NM_000456.2):c.945C>T (p.H315=) - IKZF4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.1050T>C r.(?) p.(Tyr350=) Unknown - likely benign g.56398223T>C g.56004439T>C SUOX(NM_000456.2):c.1050T>C (p.Y350=) - SUOX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1084G>A r.(?) p.(Gly362Ser) Both (homozygous) - pathogenic (recessive) g.56398257G>A - - - SUOX_000022 - PubMed: Bender 2019 - - Germline - - - - - DNA SEQ - - ISOD patient PubMed: Bender 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1084G>A r.(?) p.(Gly362Ser) Both (homozygous) - pathogenic (recessive) g.56398257G>A g.56004473G>A 913G>A (G305S) - SUOX_000022 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 7519M PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
+?/. 5 c.1097G>A r.(?) p.(Arg366His) Both (homozygous) ACMG likely pathogenic (recessive) g.56398270G>A - - - SUOX_000016 ACMG: PS4_MOD, PS3_SUP, PM2_SUP, PM3_SUP, PP3; trio-exom, parents are carrier PMID: 31127934; PMID: 28980090 VCV000986985.1 - Germline yes - - - - DNA SEQ-NG-I - - ISOD 146920 - - M yes Syria - - - - - 1 Andreas Laner
+/. - c.1097G>A r.(?) p.(Arg366His) Parent #1 - pathogenic (recessive) g.56398270G>A g.56004486G>A 926G>A (R309H) - SUOX_000016 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 6613J PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1126C>T r.(?) - Parent #1 - VUS g.56398299C>T g.56004515C>T 955C>T (R319C) - SUOX_000029 variant after frame shift PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 10254A PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1136A>G r.(?) p.(Lys379Arg) Both (homozygous) - pathogenic (recessive) g.56398309A>G g.56004525A>G 965A>G (K322R) - SUOX_000030 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 0897K PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1187A>G r.(?) p.(Gln396Arg) Parent #2 - pathogenic (recessive) g.56398360A>G g.56004576A>G 1016A>G (Q339R) - SUOX_000031 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 6613J PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1190G>A r.(?) p.(Arg397Gln) Unknown - likely benign g.56398363G>A - g1022a (R340Q) - SUOX_000019 - PubMed: Kisker 1997 - - Germline - - - - - DNA SEQ - - ISOD Pat3 PubMed: Kisker 1997 - - - - - - - - - 1 Johan den Dunnen
+/. 5 c.1200C>G r.(?) p.(Tyr400Ter) Unknown - pathogenic g.56398373C>G g.56004589C>G SUOX(NM_000456.3):c.1200C>G (p.Y400*) - SUOX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1200C>G r.(?) p.(Tyr400*) Maternal (confirmed) ACMG pathogenic (recessive) g.56398373C>G g.56004589C>G g.7410C>G - SUOX_000006 - - - - Germline - - - - - DNA SEQ-NG blood gene panel ISOD SUOX-001 - - M no China Han - - - - 1 Xiangjun Chen
+/. - c.1200C>G r.(?) p.(Tyr400Ter) Both (homozygous) - pathogenic (recessive) g.56398373C>G g.56004589C>G 1029C>G (Y343X) - SUOX_000006 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 0300K PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1200C>G r.(?) p.(Tyr400*) Both (homozygous) - pathogenic (recessive) g.56398373C>G g.56004589C>G - - SUOX_000006 - - - - Germline - - - - - DNA SEQ-NG - - ISOD - - - - - - - - - - - 1 Min Peng
+/. - c.1200C>G r.(?) p.(Tyr400*) Maternal (confirmed) - pathogenic (recessive) g.56398373C>G g.56004589C>G - - SUOX_000006 - - - - Germline - - - - - DNA SEQ-NG - - ISOD - - - - - - - - - - - 1 Min Peng
+/. - c.1261C>T r.(?) p.(Gln421Ter) Both (homozygous) - pathogenic (recessive) g.56398434C>T g.56004650C>T 1090C>T (Q364X) - SUOX_000032 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 9007Q/9599K PubMed: Johnson 2002 2-generation family, 2 affected sibs - - - - - - - - 2 Johan den Dunnen
+/. - c.(1280C>G) r.(?) p.(Ser427Trp) Unknown - pathogenic g.(56398453C>G) - g1109a (S370Y) - SUOX_000000 - PubMed: Kisker 1997 - - Germline - - - - - DNA SEQ - - ISOD Pat3 PubMed: Kisker 1997 - - - - - - - - - 1 Johan den Dunnen
-/. 5 c.1281G>C r.(?) p.(Ser427=) Unknown - benign g.56398454G>C g.56004670G>C SUOX(NM_000456.3):c.1281G>C (p.S427=) - SUOX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.1281G>C r.(?) p.(Ser427=) Unknown - benign g.56398454G>C g.56004670G>C SUOX(NM_000456.3):c.1281G>C (p.S427=) - SUOX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1281G>T r.(=) p.(Ser427=) Unknown - benign g.56398454G>T - c1110a (S370S) - SUOX_000000 - PubMed: Kisker 1997 - - Germline - - - - - DNA SEQ - - ISOD Pat4 PubMed: Kisker 1997 - - - - - - - - - 1 Johan den Dunnen
-?/. 5 c.1306G>A r.(?) p.(Glu436Lys) Unknown - likely benign g.56398479G>A g.56004695G>A SUOX(NM_000456.2):c.1306G>A (p.E436K) - SUOX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1313_1316del r.(?) p.(Val438Aspfs*5) Both (homozygous) - pathogenic (recessive) g.56398486_56398489del g.56004702_56004705del - - SUOX_000023 - PubMed: Tan 2005 - - Germline - - - - - DNA SEQ - - ISOD patient PubMed: Tan 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
-?/. 5 c.1324G>A r.(?) p.(Glu442Lys) Unknown - likely benign g.56398497G>A - SUOX(NM_000456.2):c.1324G>A (p.E442K) - IKZF4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.1327G>T r.(?) p.(Val443Leu) Unknown - VUS g.56398500G>T - SUOX(NM_000456.2):c.1327G>T (p.V443L) - IKZF4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337A>C r.(?) p.(Lys446Thr) Unknown - VUS g.56398510A>C - SUOX(NM_001032386.2):c.1337A>C (p.(Lys446Thr)) - IKZF4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1348T>C r.(?) p.(Trp450Arg) Both (homozygous) - pathogenic (recessive) g.56398521T>C g.56004737T>C 1177T>C (W393R) - SUOX_000033 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD 6919M PubMed: Johnson 2002 - - - - - - - - - 1 Johan den Dunnen
-?/. 5 c.1358G>A r.(?) p.(Gly453Asp) Unknown - likely benign g.56398531G>A g.56004747G>A SUOX(NM_000456.2):c.1358G>A (p.G453D) - SUOX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1358G>A r.(?) p.(Gly453Asp) Parent #1 - VUS g.56398531G>A g.56004747G>A - - SUOX_000010 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76537761 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.1376G>A r.(?) p.(Arg459Gln) Maternal (confirmed) - likely pathogenic (recessive) g.56398549G>A g.56004765G>A - - SUOX_000037 - - - - Germline - - - - - DNA SEQ-NG - - ISOD - - - - - - - - - - - 1 Min Peng
+/. - c.1406_1421del r.(?) p.(Thr469Serfs*20) Paternal (confirmed) - pathogenic (recessive) g.56398579_56398594del g.56004795_56004810del - - SUOX_000036 - - - - Germline - - - - - DNA SEQ-NG - - ISOD - - - - - - - - - - - 1 Min Peng
+/. - c.1406_1421del r.(?) p.(Thr469Serfs*20) Paternal (confirmed) - pathogenic (recessive) g.56398579_56398594del g.56004795_56004810del - - SUOX_000036 - - - - Germline - - - - - DNA SEQ-NG - - ISOD - - - - - - - - - - - 1 Min Peng
+/. - c.1521_1524del r.(?) p.(Cys508ArgfsTer109) Both (homozygous) - pathogenic (recessive) g.56398694_56398697del g.56004910_56004913del 1347-1350delTTGT - SUOX_000034 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD - PubMed: Johnson 2002 - - - United States native American - - - - 1 Johan den Dunnen
+/. - c.1521_1524del r.(?) p.(Cys508ArgfsTer109) Both (homozygous) - pathogenic (recessive) g.56398694_56398697del g.56004910_56004913del 1347-1350delTTGT - SUOX_000034 - PubMed: Johnson 2002 - - Germline - - - - - DNA SEQ - - ISOD - PubMed: Johnson 2002 - - - United States native American - - - - 1 Johan den Dunnen
-?/. 5 c.1569C>A r.(?) p.(Ala523=) Unknown - likely benign g.56398742C>A g.56004958C>A SUOX(NM_000456.2):c.1569C>A (p.A523=) - SUOX_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1589G>A r.(?) p.(Gly530Asp) Unknown - pathogenic g.56398762G>A g.56004978G>A g1418a (G473D) - SUOX_000020 - PubMed: Kisker 1997 - rs121908009 Germline - - - - - DNA SEQ - - ISOD Pat4 PubMed: Kisker 1997 - - - - - - - - - 1 Johan den Dunnen
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