Full data view for gene SOX4

Information The variants shown are described using the NM_003107.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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     
?/. - c.? r.(?) p.(Phe334His) Unknown - VUS g.? - - - LAMA2_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K55 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
?/. - c.? r.(?) p.(Ser136Ala) Unknown - VUS g.? - - - LAMA2_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K78 PubMed: Heidet 2017 affected fetus and 1st degree relative - - France - - - - - 2 Johan den Dunnen
+?/. - c.65C>A r.(?) p.(Ser22Ter) Unknown - likely pathogenic g.21594830C>A g.21594599C>A - - SOX4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.130_133delinsCGCT r.(?) p.(Gly44delinsArgTer) Maternal (confirmed) ACMG pathogenic (dominant) g.21594895_21594898delinsCGCT g.21594664_21594667delinsCGCT 130_133delGGCAinsCGCT - SOX4_000013 mother mosaic PubMed: Angelozzi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat17 PubMed: Angelozzi 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.176T>G r.(?) p.(Ile59Ser) Unknown - pathogenic (dominant) g.21594941T>G g.21594710T>G - - SOX4_000003 - PubMed: Zawerton 2019, Journal: Zawerton 2019 - - De novo - - - - - DNA SEQ - - ID 30661772-Pat3 PubMed: Zawerton 2019, Journal: Zawerton 2019 - F no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.192C>A r.(?) p.(Asn64Lys) Unknown ACMG pathogenic (dominant) g.21594957C>A g.21594726C>A - - SOX4_000014 - PubMed: Angelozzi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Angelozzi 2022 2-generation family, 1 affected, mildly affected father F - - - - - - - 1 Johan den Dunnen
+?/. - c.192C>A r.(?) p.(Asn64Lys) Unknown - likely pathogenic g.21594957C>A - SOX4(NM_003107.2):c.192C>A (p.(Asn64Lys)) - SOX4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.198C>A r.(?) p.(Phe66Leu) Unknown - pathogenic (dominant) g.21594963C>A g.21594732C>A - - SOX4_000001 - PubMed: Zawerton 2019, Journal: Zawerton 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID 30661772-Pat1 PubMed: Zawerton 2019, Journal: Zawerton 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Italy - - - - - 1 Johan den Dunnen
+/. - c.199A>G r.(?) p.(Met67Val) Unknown ACMG pathogenic (dominant) g.21594964A>G g.21594733A>G - - SOX4_000015 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.205T>G r.(?) p.(Trp69Gly) Unknown ACMG pathogenic (dominant) g.21594970T>G g.21594739T>G - - SOX4_000016 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.211C>T r.(211c>u) p.(Gln71*) Paternal (confirmed) ACMG pathogenic g.21594976C>T g.21594745C>T - - SOX4_000036 - - - - Germline - - - - - DNA SEQ-NG-I - - ATFB - - - - - - - - - - - 1 Yi-Qing Yang
+/. - c.289T>G r.(?) p.(Trp97Gly) Unknown ACMG pathogenic (dominant) g.21595054T>G g.21594823T>G - - SOX4_000017 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.291G>C r.(?) p.(Trp97Cys) Unknown ACMG pathogenic (dominant) g.21595056G>C g.21594825G>C - - SOX4_000018 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.296T>C r.(?) p.(Leu99Pro) Unknown ACMG pathogenic (dominant) g.21595061T>C g.21594830T>C - - SOX4_000019 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.315G>T r.(?) p.(Lys105Asn) Unknown - pathogenic (dominant) g.21595080G>T g.21594849G>T - - SOX4_000004 - PubMed: Zawerton 2019, Journal: Zawerton 2019 - - De novo - - - - - DNA SEQ - - ID 30661772-Pat4 PubMed: Zawerton 2019, Journal: Zawerton 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.334G>C r.(?) p.(Ala112Pro) Unknown - pathogenic (dominant) g.21595099G>C g.21594868G>C - - SOX4_000002 - PubMed: Zawerton 2019, Journal: Zawerton 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID 30661772-Pat2 PubMed: Zawerton 2019, Journal: Zawerton 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Hungary;Scotland - - - - - 1 Johan den Dunnen
?/. - c.335C>G r.(?) p.(Ala112Gly) Maternal (confirmed) ACMG VUS g.21595100C>G g.21594869C>G - - SOX4_000021 - PubMed: Angelozzi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Angelozzi 2022 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.335C>G r.(?) p.(Ala112Gly) Parent #1 - VUS g.21595100C>G g.21594869C>G - - SOX4_000021 - PubMed: Karimi 2025 - - Germline - - - - - DNA arrayMET, SEQ, SEQ-NG - WES SIHIWES Pat17 PubMed: Karimi 2025 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.335C>T r.(?) p.(Ala112Val) Unknown ACMG likely pathogenic (dominant) g.21595100C>T g.21594869C>T - - SOX4_000020 - PubMed: Angelozzi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier mother F - - - - - - - 1 Johan den Dunnen
?/. - c.361G>A r.(?) p.(Ala121Thr) Unknown - VUS g.21595126G>A - SOX4(NM_003107.2):c.361G>A (p.(Ala121Thr)) - SOX4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395A>G r.(?) p.(Lys132Arg) Unknown ACMG VUS g.21595160A>G g.21594929A>G - - SOX4_000022 - PubMed: Angelozzi 2022 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ, SEQ-NG - - NDD Pat13 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier mother M - - - - - - - 1 Johan den Dunnen
?/. - c.399G>T r.(?) p.(Lys133Asn) Unknown ACMG VUS (!) g.21595164G>T g.21594933G>T - - SOX4_000032 ACMG: PS2_Mod, PM2_Sup, BP4 - - - De novo - - - - - DNA SEQ-NG-I Blood - CSS10 269706 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.457G>T r.(?) p.(Glu153*) Unknown - likely pathogenic g.21595222G>T - - - SOX4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496_507del r.(?) p.(His166_Gly169del) Unknown - VUS g.21595261_21595272del - SOX4(NM_003107.3):c.496_507del (p.(His166_Gly169del)), SOX4(NM_003107.3):c.496_507delCATGGGGGCGGC (p.H166_G169del) - SOX4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.496_507del r.(?) p.(His166_Gly169del) Unknown - likely benign g.21595261_21595272del - SOX4(NM_003107.3):c.496_507del (p.(His166_Gly169del)), SOX4(NM_003107.3):c.496_507delCATGGGGGCGGC (p.H166_G169del) - SOX4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.499_500insC r.(?) p.(Gly167Alafs*46) Unknown - likely benign g.21595264_21595265insC - SOX4(NM_003107.3):c.499_500insC (p.G167Afs*46) - SOX4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>G r.(?) p.(=) Unknown - likely benign g.21595272C>G - SOX4(NM_003107.3):c.507C>G (p.(Gly169=)) - SOX4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.536dup r.(?) p.(Gly180ArgfsTer33) Unknown - VUS g.21595301dup g.21595070dup SOX4(NM_003107.3):c.536dupG (p.G180Rfs*33) - SOX4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635G>A r.(?) p.(Ser212Asn) Unknown - VUS g.21595400G>A - SOX4(NM_003107.3):c.635G>A (p.(Ser212Asn)) - SOX4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678_680dup r.(?) p.(Gly227dup) Unknown - likely benign g.21595443_21595445dup - SOX4(NM_003107.3):c.678_680dup (p.(Gly227dup)) - SOX4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.701C>T r.(?) p.(Ala234Val) Unknown - likely benign g.21595466C>T - SOX4(NM_003107.2):c.701C>T (p.(Ala234Val)) - SOX4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800C>T r.(?) p.(Ala267Val) Unknown - VUS g.21595565C>T - SOX4(NM_003107.3):c.800C>T (p.A267V) - SOX4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813_836del r.(?) p.(Ser272_Ala279del) Unknown - likely benign g.21595578_21595601del - SOX4(NM_003107.3):c.813_836del (p.(Ser272_Ala279del)) - SOX4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.838G>A r.(?) p.(Ala280Thr) Unknown - likely benign g.21595603G>A - SOX4(NM_003107.2):c.838G>A (p.(Ala280Thr)) - SOX4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.861C>A r.(?) p.(His287Gln) Unknown - VUS g.21595626C>A - SOX4(NM_003107.3):c.861C>A (p.H287Q) - SOX4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>T r.(?) p.(Val296Phe) Unknown - likely benign g.21595651G>T - SOX4(NM_003107.2):c.886G>T (p.(Val296Phe)) - SOX4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.946G>T r.(?) p.(Ala316Ser) Unknown ACMG VUS g.21595711G>T g.21595480G>T - - SOX4_000023 - PubMed: Angelozzi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Angelozzi 2022 - M - - - - - - - 1 Johan den Dunnen
?/. - c.953C>T r.(?) p.(Pro318Leu) Unknown - VUS g.21595718C>T - SOX4(NM_003107.2):c.953C>T (p.(Pro318Leu)) - SOX4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.975C>A r.(?) p.(Tyr325Ter) Unknown ACMG pathogenic (dominant) g.21595740C>A g.21595509C>A - - SOX4_000024 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.998C>A r.(?) p.(Ser333Ter) Unknown ACMG pathogenic (dominant) g.21595763C>A g.21595532C>A - - SOX4_000025 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat19 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1012A>G r.(?) p.(Ser338Gly) Unknown - likely benign g.21595777A>G - SOX4(NM_003107.3):c.1012A>G (p.S338G) - SOX4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1036G>A r.(?) p.(Ala346Thr) Unknown - VUS g.21595801G>A - SOX4(NM_003107.3):c.1036G>A (p.A346T) - SOX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1040C>A r.(?) p.(Ser347Ter) Unknown ACMG pathogenic (dominant) g.21595805C>A g.21595574C>A - - SOX4_000026 - PubMed: Angelozzi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat20 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 1 c.1061C>A r.(?) p.(Ser354*) Unknown ACMG likely pathogenic g.21595826C>A g.21595595C>A - - SOX4_000033 variant assumed de novo in patient (parents not tested); variant not previously reported in public databases or literature. - - - Germline/De novo (untested) yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CSS10 3bINP-001 PubMed: Vela-Amieva 2024 Incidental finding F no Mexico - - - - - 1 Miriam Erandi Reyna-Fabián
?/. - c.1127C>A r.(?) p.(Ser376Ter) Unknown - VUS g.21595892C>A - SOX4(NM_003107.3):c.1127C>A (p.S376*) - SOX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1139C>T r.(?) p.(Ser380Phe) Unknown - likely benign g.21595904C>T - SOX4(NM_003107.3):c.1139C>T (p.(Ser380Phe)) - SOX4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1145C>T r.(?) p.(Ala382Val) Unknown - likely benign g.21595910C>T - SOX4(NM_003107.2):c.1145C>T (p.(Ala382Val)) - SOX4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1203C>G r.(?) p.(Phe401Leu) Unknown - likely benign g.21595968C>G - SOX4(NM_003107.3):c.1203C>G (p.(Phe401Leu)) - SOX4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1248C>T r.(?) p.(Ser416=) Unknown - likely benign g.21596013C>T g.21595782C>T SOX4(NM_003107.3):c.1248C>T (p.S416=) - SOX4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1333G>T r.(?) p.(Glu445Ter) Unknown ACMG pathogenic (dominant) g.21596098G>T g.21595867G>T - - SOX4_000027 father likely mosaic PubMed: Angelozzi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat21 PubMed: Angelozzi 2022 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1382A>C r.(?) p.(Asp461Ala) Unknown - VUS g.21596147A>C - SOX4(NM_003107.2):c.1382A>C (p.(Asp461Ala)) - SOX4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1383C>G r.(?) p.(Asp461Glu) Maternal (confirmed) ACMG VUS g.21596148C>G g.21595917C>G - - SOX4_000028 - PubMed: Angelozzi 2022 - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - - NDD Pat15 PubMed: Angelozzi 2022 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1396A>G r.(?) p.(Ser466Gly) Unknown ACMG VUS g.21596161A>G g.21595930A>G - - SOX4_000029 - PubMed: Angelozzi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MYP, NDD Pat16 PubMed: Angelozzi 2022 2-generation family, 1 affected, mildly affected mother M - - - - - - - 1 Johan den Dunnen
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