Full data view for gene COL4A3

Information The variants shown are described using the NM_000091.4 transcript reference sequence.

1152 entries on 12 pages. Showing entries 1 - 100.
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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     
?/. 1 c.-26G>T r.(?) p.(=) Parent #1 - VUS g.228029417G>T g.227164701G>T - - COL4A3_000456 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-?/. 1 c.-10C>T r.(?) p.(=) Unknown - likely benign g.228029433C>T g.227164717C>T 1-10C>T 3'UTR - COL4A3_000001 - PubMed: Tazon Vega 2003 - - Germline - - - - - DNA HD, SSCA, SEQ - - ? - PubMed: Tazon Vega 2003 - - - Spain - - - - - 1 Judy Savige
-?/. - c.-10C>T r.(?) p.(=) Unknown - likely benign g.228029433C>T g.227164717C>T - - COL4A3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.(?_-1)_(87+1_88-1)del r.0? p.0? Parent #1 - VUS g.(?_228029442)_(228029530_228102683)del - del ex1 - COL4A3_000446 - PubMed: Mencarelli 2015, Journal: Mencarelli 2015 - - Germline - - - - - DNA SEQ-NG blood - ATS2 - PubMed: Mencarelli 2015, Journal: Mencarelli 2015 3-generation family, 3 affecteds (3M), father and paternal uncle died with ESRF M - - Europe - - - - 3 Judy Savige
+/. _1_1i c.(?_-1)_(87+1_88-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(227985865_228004876)_(228029530_228102683)del - del ex1 COL4A3, ex1-4 COL4A4 - COL4A4_000408 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS3A - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
+/. 14 c.? r.805_828del p.Glu269_Ser276del Parent #2 - pathogenic g.? - 805_828delGAGCCTGGACCTCCTGGACCCTCA - COL4A3_000000 - PubMed: Zhang 2011 - - Germline - - - - - DNA SEQ - - ATS2 21143337-Fam5 PubMed: Zhang 2011 - - - China - - - - - 1 Johan den Dunnen
+/+? 1 c.1A>T r.(?) p.0? Unknown - pathogenic g.228029443A>T g.227164727A>T M1L - COL4A3_000002 nonsense; Compound heterozygous; PubMed: Longo 2002 - - Germline - - - - - DNA SSCA, SEQ - - ATS2 - PubMed: Longo 2002 - F - Italy - - - - - 1 Judy Savige
./. 1 c.2T>A r.(?) p.0? Parent #1 - VUS g.228029444T>A g.227164728T>A p.Met1Lys - COL4A3_000457 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS - PubMed: Weber 2016, Journal: Weber 2016 - M - Germany - - - - - 1 Judy Savige
+/. - c.2T>A r.(?) p.(Met1?) Unknown ACMG pathogenic g.228029444T>A - Met1Lys - COL4A3_000457 - - - - Germline yes - - - - DNA - - - ATS2 - - - M - - - - - - - 1 Jasmina Comic
./. 1 c.2T>C r.(?) p.0? Unknown - - g.228029444T>C g.227164728T>C Met1Thr - COL4A3_000250 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
./. 1 c.2T>C r.(?) p.0? Parent #1 - VUS g.228029444T>C g.227164728T>C p.Met1Thr - COL4A3_000250 - PubMed: Uzak 2013 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Uzak 2013 Diagnosed at 11 years. Three of her relatives also diagnosed as Alport syndrome, progressed to ESRD M - Turkey Turkish - - - - 1 Judy Savige
./. 1 c.2T>G r.(?) p.0? Parent #1 - VUS g.228029444T>G g.227164728T>G p.Met1Arg - COL4A3_000458 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
./. 1 c.3G>A r.(?) p.0? Unknown - - g.228029445G>A g.227164729G>A Met1Ile - COL4A3_000251 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
?/. - c.17C>A r.(?) p.(Ala6Asp) Unknown - VUS g.228029459C>A - COL4A3(NM_000091.5):c.17C>A (p.(Ala6Asp)) - COL4A3_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 1 c.19C>A r.(?) p.(Pro7Thr) Unknown - - g.228029461C>A g.227164745C>A - - COL4A3_000252 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
./. 1 c.21C>A r.(?) p.(Pro7=) Unknown - - g.228029463C>A g.227164747C>A - - COL4A3_000178 - 1000 genome; NCBI - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
?/. 1 c.26C>T r.(?) p.(Pro9Leu) Parent #1 - VUS g.228029468C>T g.227164752C>T - - COL4A3_000459 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-?/. - c.33G>T r.(?) p.(Val11=) Unknown - likely benign g.228029475G>T g.227164759G>T - - COL4A3_000622 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 1 c.40_63del r.(?) p.(Leu14_Leu21del) Unknown - pathogenic g.228029482_228029505del g.227164766_227164789del 40del24 - COL4A3_000003 - PubMed: Longo 2002 - - Germline - - - - - DNA SSCA, SEQ - - ATS3A - PubMed: Longo 2002 - M - Italy - - - - - 1 Judy Savige
+/+? 1 c.40_63del r.(?) p.(Leu14_Leu21del) Unknown - pathogenic g.228029482_228029505del g.227164766_227164789del 40_63delCTGCCGCTCCTGCTGGTGCTCCTG (del LPLLLVLL) - COL4A3_000003 Compound heterozygous PubMed: Tazon Vega 2003 - - Germline - - - - - DNA HD, SSCA, SEQ - - ATS2 - PubMed: Tazon Vega 2003 - F - Spain - - - - - 1 Judy Savige
./. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Unknown - - g.228029482_228029505del g.227164766_227164789del 40_63delCTGCCGCTCCTGCTGGTGCTCCTG - COL4A3_000003 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
+/. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Parent #1 - pathogenic g.228029482_228029505del g.227164766_227164789del - - COL4A3_000003 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
./. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Parent #1 - VUS g.228029482_228029505del g.227164766_227164789del 30_53del - COL4A3_000003 - PubMed: Chatterjee 2013, Journal: Chatterjee 2013 - - Germline - - - - - DNA SEQ-NG blood WES ATS2 - PubMed: Chatterjee 2013, Journal: Chatterjee 2013 25 yo with FH of haematuria. Presented at age 2 yo, developed proteinuria at 7. Renal biopsy confirmed Alport syndrome. By age 10, she had a hearing loss. At 21, macular flecks. This deletion has been reported previously in Alport syndrome. The 24 bp deletion removes 8 aa from the signal peptide, possibly altering COL4A3 secretion, as predicted by three different programs. F - Italy Italian - - - - 1 Judy Savige
+/. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Parent #1 - pathogenic g.228029482_228029505del g.227164766_227164789del - - COL4A3_000003 - PubMed: Oka 2014, Journal: Oka 2014 - - Germline - - - - - DNA PCRq, RT-PCR, SEQ blood - ATS2 - PubMed: Oka 2014, Journal: Oka 2014 - F - Japan Japanese - - - - 1 Judy Savige
+/. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Parent #1 - pathogenic g.228029482_228029505del g.227164766_227164789del - - COL4A3_000003 - PubMed: Oka 2014, Journal: Oka 2014 - - Germline - - - - - DNA PCRq, RT-PCR, SEQ blood - ATS2 - PubMed: Oka 2014, Journal: Oka 2014 - F - Japan Japanese - - - - 1 Judy Savige
+/. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Both (homozygous) - pathogenic g.228029482_228029505del g.227164766_227164789del - - COL4A3_000003 - PubMed: Oka 2014, Journal: Oka 2014 - - Germline - - - - - DNA PCRq, RT-PCR, SEQ blood - ATS2 - PubMed: Oka 2014, Journal: Oka 2014 - F - Japan Japanese - - - - 1 Judy Savige
./. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Unknown - VUS g.228029482_228029505del g.227164766_227164789del 40_63delCTGCCGCTCCTGCTGGTGCTCCTG - COL4A3_000003 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - China Chinese - - - - 1 Judy Savige
?/. - c.40_63del r.(?) p.(Leu14_Leu21del) Unknown - VUS g.228029482_228029505del g.227164766_227164789del - - COL4A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.40_63del r.(?) p.(Leu14_Leu21del) Both (homozygous) - pathogenic (recessive) g.228029482_228029505del g.227164766_227164789del - - COL4A3_000003 - - - rs876657397 Germline yes - - - - DNA SEQ-NG-I blood - ATS - - - M ? Czech Republic Ukrainian 10y - - - 1 Pavlina Plevova
./. 1 c.40_66del r.(?) p.(Leu14_Ala22del) Unknown - - g.228029482_228029508del g.227164766_227164792del - - COL4A3_000254 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
?/. 1 c.43_54del r.(?) p.(Pro15_Leu18del) Parent #1 - VUS g.228029485_228029496del g.227164769_227164780del - - COL4A3_000460 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-?/. - c.43_54del r.(?) p.(Pro15_Leu18del) Unknown - likely benign g.228029485_228029496del - COL4A3(NM_000091.5):c.43_54del (p.(Pro15_Leu18del)) - COL4A3_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45G>A r.(?) p.(=) Unknown - likely benign g.228029487G>A - COL4A3(NM_000091.4):c.45G>A (p.P15=) - COL4A3_000781 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.71C>G r.(?) p.(Ala24Gly) Unknown - likely pathogenic g.228029513C>G g.227164797C>G - - COL4A3_000179 - 1000 genome; NCBI - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
-?/. - c.71C>G r.(?) p.(Ala24Gly) Unknown - likely benign g.228029513C>G - COL4A3(NM_000091.4):c.71C>G (p.A24G) - COL4A3_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.73C>T r.(?) p.(Pro25Ser) Unknown - likely pathogenic g.228029515C>T g.227164799C>T - - COL4A3_000180 - 1000 genome; NCBI - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
-?/. - c.73C>T r.(?) p.(Pro25Ser) Unknown - likely benign g.228029515C>T - COL4A3(NM_000091.4):c.73C>T (p.P25S) - COL4A3_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.88-4C>T r.spl? p.? Unknown - benign g.228102680C>T g.227237964C>T COL4A3(NM_000091.4):c.88-4C>T - COL4A3_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.88-4C>T r.spl? p.? Unknown - benign g.228102680C>T g.227237964C>T COL4A3(NM_000091.4):c.88-4C>T - COL4A3_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 1i_50i c.88-?_4755+?dup r.? p.? Parent #1 - VUS g.228102684_228174034dup - 88-?_4755+?dup - COL4A3_000461 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
./. 2 c.96dup r.(?) p.(Cys33Leufs*2) Unknown - - g.228102692dup g.227237976dup c.95_96insC - COL4A3_000255 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
./. 2 c.127G>A r.(?) p.(Gly43Arg) Unknown - - g.228102723G>A g.227238007G>A - - COL4A3_000004 Missense PubMed: Badenas 2002 - - Germline - - - - - DNA SSCA, SEQ - - BFH;TMN - PubMed: Badenas 2002 - - - Spain - - - - - 1 Judy Savige
./. 2 c.127G>A r.(?) p.(Gly43Arg) Unknown - - g.228102723G>A g.227238007G>A - - COL4A3_000004 Polymorphism PubMed: Slajpah 2007 - - Germline - - - - - DNA SSCA, SEQ - - ? - PubMed: Slajpah 2007 - - - Slovenia - - - - - 1 Judy Savige
./. 2 c.127G>A r.(?) p.(Gly43Arg) Unknown - - g.228102723G>A g.227238007G>A - - COL4A3_000004 Polymorphism PubMed: Wang 2004 - - Germline - - - - - DNA SSCA, SEQ - - BFH;TMN - PubMed: Wang 2004 - - - - - - - - - 1 Judy Savige
-/-? 2 c.127G>C r.(?) p.(Gly43Arg) Unknown - benign g.228102723G>C g.227238007G>C - - COL4A3_000005 Polymorphism PubMed: Heidet 2001 - - Germline - - - - - DNA, RNA SSCA, RT-PCR, SEQ - - ATS2 - PubMed: Heidet 2001 - - - - - - - - - 26 Judy Savige
-/-? 2 c.127G>C r.(?) p.(Gly43Arg) Unknown - benign g.228102723G>C g.227238007G>C - - COL4A3_000005 Polymorphism PubMed: Longo 2002 - - Germline - - - - - DNA SSCA, SEQ - - ATS2 - PubMed: Longo 2002 - - - Italy - - - - - 1 Judy Savige
-/-? 2 c.127G>C r.(?) p.(Gly43Arg) Unknown - benign g.228102723G>C g.227238007G>C - - COL4A3_000005 Polymorphism PubMed: Tazon Vega 2003 - - Germline - - - - - DNA HD, SSCA, SEQ - - ? - PubMed: Tazon Vega 2003 - - - Spain - - - - - 1 Judy Savige
./. 2 c.127G>C r.(?) p.(Gly43Arg) Unknown - - g.228102723G>C g.227238007G>C - - COL4A3_000005 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
-/. - c.127G>C r.(?) p.(Gly43Arg) Unknown - benign g.228102723G>C g.227238007G>C COL4A3(NM_000091.4):c.127G>C (p.G43R) - COL4A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.127G>C r.(?) p.(Gly43Arg) Parent #1 - benign g.228102723G>C g.227238007G>C - - COL4A3_000005 - PubMed: Kovacs 2016, Journal: Kovacs 2016 - - Germline - - - - - DNA SEQ, SEQ-NG blood - ATS2 - PubMed: Kovacs 2016, Journal: Kovacs 2016 - - - Hungary Hungarian - - - - 1 Judy Savige
-/. - c.127G>C r.(?) p.(Gly43Arg) Unknown - benign g.228102723G>C g.227238007G>C COL4A3(NM_000091.4):c.127G>C (p.G43R) - COL4A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.136G>A r.(?) p.(Gly46Arg) Unknown - likely benign g.228102732G>A g.227238016G>A COL4A3(NM_000091.4):c.136G>A (p.G46R) - COL4A3_000689 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136G>A r.(?) p.(Gly46Arg) Unknown - VUS g.228102732G>A - COL4A3(NM_000091.4):c.136G>A (p.G46R) - COL4A3_000689 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 2i c.144+12C>A r.(?) p.(=) Unknown - - g.228102752C>A g.227238036C>A - - COL4A3_000006 - PubMed: Badenas 2002 - - Germline - - - - - DNA SSCA, SEQ - - BFH;TMN - PubMed: Badenas 2002 - - - Spain - - - - - 1 Judy Savige
./. 2i c.144+12C>A r.(?) p.(=) Unknown - - g.228102752C>A g.227238036C>A - - COL4A3_000006 - PubMed: Tazon Vega 2003 - - Germline - - - - - DNA HD, SSCA, SEQ - - ? - PubMed: Tazon Vega 2003 - - - Spain - - - - - 1 Judy Savige
./. 2i c.144+12C>A r.(?) p.(=) Unknown - - g.228102752C>A g.227238036C>A - - COL4A3_000006 - PubMed: Wang 2004 - - Germline - - - - - DNA SSCA, SEQ - - ? - PubMed: Wang 2004 - - - - - - - - - 1 Judy Savige
-/. - c.144+12C>A r.(=) p.(=) Unknown - benign g.228102752C>A g.227238036C>A COL4A3(NM_000091.5):c.144+12C>A, MFF-DT(NR_102371.1):n.1681+50G>T - COL4A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.144+12C>A r.(?) p.(=) Parent #1 - benign g.228102752C>A g.227238036C>A - - COL4A3_000006 - PubMed: Kovacs 2016, Journal: Kovacs 2016 - - Germline - - - - - DNA SEQ, SEQ-NG blood - ATS2 - PubMed: Kovacs 2016, Journal: Kovacs 2016 - - - Hungary Hungarian - - - - 1 Judy Savige
-/. - c.144+12C>A r.(=) p.(=) Unknown - benign g.228102752C>A g.227238036C>A COL4A3(NM_000091.5):c.144+12C>A, MFF-DT(NR_102371.1):n.1681+50G>T - COL4A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144+18T>G r.(=) p.(=) Unknown - likely benign g.228102758T>G - COL4A3(NM_000091.4):c.144+18T>G - COL4A3_000723 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144+39A>T r.(=) p.(=) Unknown - likely benign g.228102779A>T g.227238063A>T - - COL4A3_000623 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.145-99C>T r.(=) p.(=) Unknown - benign g.228104760C>T - - - COL4A3_000700 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.145-99C>T r.(?) p.? Unknown - benign g.228104760C>T g.227240044C>T 45-99C>T - COL4A3_000700 variant in COL4A4:c.1598G>A homozygote PubMed: Plevova 2023 - rs7579991 Germline - - - - - DNA SEQ - - ATS - PubMed: Plevova 2023 - - - Czech Republic - - - - - 1 Johan den Dunnen
./. 3 c.145G>C r.(?) p.(Gly49Arg) Parent #1 - VUS g.228104859G>C g.227240143G>C - - COL4A3_000462 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
./. 2i c.162-2A>G exon 3 (90 bp) skip p.? Parent #1 - VUS g.228104874A>G - - - COL4A3_000463 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Oka 2014, Journal: Oka 2014 - - Germline - - - - - DNA PCRq, RT-PCR, SEQ blood - ATS2 - PubMed: Oka 2014, Journal: Oka 2014 - F - Japan Japanese - - - - 1 Judy Savige
+/. 3 c.162dup r.(?) p.(Gly55Trpfs*15) Parent #1 - pathogenic g.228104876dup g.227240160dup - - COL4A3_000246 - PubMed: Storey 2013 - - Germline - - - - - DNA SEQ - - ATS2 - PubMed: Storey 2013 - M - Australia Tasmanian, British origin - - - - 1 Helen Storey
./. 3 c.162dup r.(?) p.(Gly55Trpfs*15) Unknown - - g.228104876dup g.227240160dup 162_163insT - COL4A3_000246 - - - - Germline - - - - - DNA SEQ - - ? - Judy Savige - M - - British - - - - 1 Judy Savige
./. 3 c.162dup r.(?) p.(Gly55Trpfs*15) Unknown - - g.228104876dup g.227240160dup 162_163insT - COL4A3_000246 - - - - Germline - - - - - DNA SEQ - - ? - Judy Sacvige - M - - British - - - - 1 Judy Savige
./. 3 c.162dup r.(?) p.(Gly55Trpfs*15) Unknown - - g.228104876dup g.227240160dup 162_163insT - COL4A3_000246 - - - - Germline - - - - - DNA SEQ - - ? - Judy Savige - M - - British - - - - 1 Judy Savige
+/. 3 c.172G>A r.(?) p.(Gly58Ser) Unknown - pathogenic g.228104886G>A g.227240170G>A - - COL4A3_000181 - 1000 genome; NCBI - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
?/. - c.172G>A r.(?) p.(Gly58Ser) Unknown - VUS g.228104886G>A - COL4A3(NM_000091.4):c.172G>A (p.(Gly58Ser)) - COL4A3_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 3 c.172G>C r.(?) p.(Gly58Arg) Parent #1 - VUS g.228104886G>C g.227240170G>C - - COL4A3_000464 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
+/. - c.184dup r.(?) p.(Gln62ProfsTer8) Unknown - pathogenic g.228104898dup g.227240182dup - - COL4A3_000624 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 3 c.222G>A r.(?) p.(Pro74=) Unknown - - g.228104936G>A g.227240220G>A - - COL4A3_000182 - 1000 genome; NCBI - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
./. 3 c.222G>T r.(?) p.(Pro74Pro) Unknown - - g.228104936G>T g.227240220G>T - - COL4A3_000007 - PubMed: Tazon Vega 2003 - - Germline - - - - - DNA HD, SSCA, SEQ - - ? - PubMed: Tazon Vega 2003 - - - Spain - - - - - 1 Judy Savige
./. 3 c.222G>T r.(?) p.(=) Unknown - - g.228104936G>T g.227240220G>T - - COL4A3_000007 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
-?/. - c.222G>T r.(?) p.(Pro74=) Unknown - likely benign g.228104936G>T g.227240220G>T COL4A3(NM_000091.4):c.222G>T (p.P74=) - COL4A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222G>T r.(?) p.(Pro74=) Unknown - benign g.228104936G>T g.227240220G>T COL4A3(NM_000091.4):c.222G>T (p.P74=) - COL4A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222G>T r.(?) p.(Pro74=) Unknown - likely benign g.228104936G>T - COL4A3(NM_000091.4):c.222G>T (p.P74=) - COL4A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.233A>G r.(?) p.(Lys78Arg) Unknown - likely pathogenic g.228104947A>G g.227240231A>G - - COL4A3_000183 - 1000 genome; NCBI - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
+?/. - c.235-1G>A r.spl? p.? Unknown - likely pathogenic g.228109035G>A - COL4A3(NM_000091.4):c.235-1G>A - COL4A3_000763 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 4 c.261G>A r.(?) p.(=) Unknown - - g.228109062G>A g.227244346G>A - - COL4A3_000259 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
./. 4 c.272G>T r.(?) p.(Gly91Val) Parent #1 - VUS g.228109073G>T g.227244357G>T - - COL4A3_000465 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS - PubMed: Weber 2016, Journal: Weber 2016 Mother, maternal grandmother, and several maternal uncles on dialysis F - Germany - - - - - 1 Judy Savige
+/. 4 c.272G>T r.(?) p.(Gly91Val) Unknown ACMG likely pathogenic g.228109073G>T - - - COL4A3_000465 - - - - Germline yes - - - - DNA ? - - ATS3A 13330344 - - F - - - - - - - 1 Jasmina Comic
-/. - c.280-40_280-39insG r.(?) p.? Unknown - benign g.228109627_228109628insG g.227244911_227244912insG 280-39_40insG - COL4A3_000742 variant in COL4A4:c.1598G>A homozygote PubMed: Plevova 2023 - - Germline - - - - - DNA SEQ - - ATS - PubMed: Plevova 2023 - - - Czech Republic - - - - - 1 Johan den Dunnen
+?/. 4i_8i c.(279+1_280-1)_(468+1_469-1)dup r.? p.? Parent #1 - VUS g.(228109081_228109666)_(228112301_228113158)dup - ex5-8 dup - COL4A3_000450 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-?/. - c.324+20C>T r.(=) p.(=) Unknown - likely benign g.228109731C>T - COL4A3(NM_000091.4):c.324+20C>T - COL4A3_000752 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5i c.324+73C>T r.(?) p.(=) Unknown - likely benign g.228109784C>T g.227245068C>T - - COL4A3_000008 Intronic PubMed: Voskarides 2007 - - Germline - - - - - DNA EMC, SSCA, SEQ - - ? - PubMed: Voskarides 2007 - - - Cyprus Greek-Cypriot - - - - 1 Judy Savige
-/. - c.324+73C>T r.(=) p.(=) Unknown - benign g.228109784C>T - - - COL4A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.324+73C>T r.(?) p.? Unknown - benign g.228109784C>T g.227245068C>T - - COL4A3_000008 variant in COL4A4:c.1598G>A homozygote PubMed: Plevova 2023 - rs6750210 Germline - - - - - DNA SEQ - - ATS - PubMed: Plevova 2023 - - - Czech Republic - - - - - 1 Johan den Dunnen
-/. - c.325-27C>T r.(=) p.(=) Unknown - benign g.228110643C>T g.227245927C>T COL4A3(NM_000091.4):c.325-27C>T - COL4A3_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325-27C>T r.(=) p.(=) Unknown - benign g.228110643C>T g.227245927C>T COL4A3(NM_000091.4):c.325-27C>T - COL4A3_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.329C>T r.(?) p.(Thr110Ile) Unknown - VUS g.228110674C>T g.227245958C>T - - COL4A3_000466 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-?/. - c.341C>T r.(?) p.(Thr114Ile) Unknown - likely benign g.228110686C>T g.227245970C>T - - COL4A3_000625 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.344G>C r.(?) p.(Gly115Ala) Unknown - likely pathogenic g.228110689G>C g.227245973G>C - - COL4A3_000626 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 6 c.345del r.(?) p.Pro116Leufs*37 Parent #1 - VUS g.228110690del g.227245974del c.345delG - COL4A3_000467 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
./. 6 c.345del r.(?) p.(Pro116Leufs*37) Parent #1 - VUS g.228110690del g.227245974del 345delG - COL4A3_000467 - PubMed: Rosado 2015, Journal: Rosado 2015 - - Germline - - - - - DNA SEQ - - ATS3A - PubMed: Rosado 2015, Journal: Rosado 2015 Hematuria at age of 2, proteinuria and CKD at 32, hearing loss at 46. Son had hematuria and proteinuria at 6, and hearing loss and anterior lenticonus at 9, CKD at 19 F - Spain Spanish - - - - 1 Judy Savige
./. 6 c.346C>A r.(?) p.(Pro116Thr) Unknown - - g.228110691C>A g.227245975C>A - - COL4A3_000009 Polymorphism PubMed: Wang 2004 - - Germline - - - - - DNA SSCA, SEQ - - BFH;TMN - PubMed: Wang 2004 - - - - - - - - - 1 Judy Savige
./. 6 c.346C>A r.(?) p.(Pro116Thr) Unknown - - g.228110691C>A g.227245975C>A - - COL4A3_000009 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
./. 6 c.346C>A r.(?) p.(Pro116Thr) Unknown - - g.228110691C>A g.227245975C>A - - COL4A3_000009 - - - - Germline - - - - - DNA SEQ - - ? - Matonagel - - - - - - - - - 1 Judy Savige
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