Full data view for gene COL4A4

Information The variants shown are described using the NM_000092.4 transcript reference sequence.

1219 entries on 13 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     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     
-?/. - c.-894G>A r.(?) p.(=) 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.-892G>C r.(?) p.(=) Unknown - likely benign g.228029513C>G - COL4A3(NM_000091.4):c.71C>G (p.A24G) - COL4A3_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-874_-851del r.(?) p.(=) Unknown - VUS g.228029482_228029505del g.227164766_227164789del - - COL4A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-866C>T 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-865_-854del r.(?) p.(=) 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.-854C>A r.(?) p.(=) Unknown - likely benign g.228029475G>T g.227164759G>T - - COL4A3_000622 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-838G>T r.(?) p.(=) Unknown - VUS g.228029459C>A - COL4A3(NM_000091.5):c.17C>A (p.(Ala6Asp)) - COL4A3_000783 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-812G>A r.(?) p.(=) Unknown - likely benign g.228029433C>T g.227164717C>T - - COL4A3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-101-4A>G r.spl? p.? Unknown - VUS g.228012304T>C g.227147588T>C COL4A4(NM_000092.4):c.-101-4A>G (p.(=)) - COL4A4_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-101-4A>G r.spl? p.? Unknown - likely benign g.228012304T>C g.227147588T>C COL4A4(NM_000092.4):c.-101-4A>G (p.(=)) - COL4A4_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-101-4A>G r.spl? p.? Unknown - likely benign g.228012304T>C g.227147588T>C COL4A4(NM_000092.4):c.-101-4A>G (p.(=)) - COL4A4_000392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-79C>T r.(?) p.(=) Unknown - benign g.228012278G>A g.227147562G>A COL4A4(NM_000092.4):c.-79C>T - COL4A4_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.-23T>G r.(?) p.(=) Unknown - likely pathogenic g.228012222A>C g.227147506A>C - - COL4A4_000543 - PubMed: Liu 2017, Journal: Liu 201 - - Germline - - - - - DNA SEQ, SEQ-NG blood WES ATS2 - PubMed: Liu 2017, Journal: Liu 201 - M - China Chinese - - - - 1 Judy Savige
-/. - c.-15T>C r.(?) p.(=) Unknown - benign g.228012214A>G g.227147498A>G - - COL4A4_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/-? 2 c.-2C>T r.(?) p.(=) Unknown - benign g.228012201G>A g.227147485G>A - - COL4A4_000001 - PubMed: Badenas 2002 - - Germline - - - - - DNA SSCA, SEQ - - BFH;TMN - PubMed: Badenas 2002 - - - Spain - - - - - 1 Judy Savige
./. 1 c.-2C>T r.(?) p.(=) Unknown - - g.228012201G>A g.227147485G>A - - COL4A4_000001 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
-?/. - c.-2C>T r.(?) p.(=) Unknown - likely benign g.228012201G>A g.227147485G>A - - COL4A4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_4i c.(?_-1)_(192+1_193-1)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
+/. _1_4i c.(?_-1)_(192+1_193-1)del r.0? p.0? Unknown - pathogenic g.(227985865_228004876)_(228012200_?)del - del ex1-4 - COL4A4_000408 - 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
./. 2 c.15C>T r.(?) p.(=) Unknown - - g.228012185G>A g.227147469G>A - - COL4A4_000283 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
./. 2 c.17T>A r.(?) p.(Ile6Lys) Unknown - - g.228012183A>T g.227147467A>T - - COL4A4_000284 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
-/-? 2 c.17T>C r.(?) p.(Ile6Thr) Unknown - benign g.228012183A>G g.227147467A>G - - COL4A4_000002 - PubMed: Badenas 2002 - - Germline - - - - - DNA SSCA, SEQ - - BFH;TMN - PubMed: Badenas 2002 - - - Spain - - - - - 1 Judy Savige
-/-? 2 c.17T>C r.(?) p.(Ile6Thr) Unknown - benign g.228012183A>G g.227147467A>G - - COL4A4_000002 - PubMed: Tazon Vega 2003 - - Germline - - - - - DNA HD, SSCA, SEQ - - Healthy/Control - PubMed: Tazon Vega 2003 - - - Spain - - - - - 1 Judy Savige
-/. - c.17T>C r.(?) p.(Ile6Thr) Unknown - benign g.228012183A>G g.227147467A>G - - COL4A4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.32_42del r.(?) p.(Cys11Phefs*46) Unknown - likely pathogenic g.228012158_228012168del g.227147442_227147452del 32delGCTCCTTCAGA - COL4A4_000003 Heterozygous. Missense. PubMed: Badenas 2002 - - Germline - - - - - DNA SEQ - - BFH;TMN - PubMed: Badenas 2002 - M - Spain - - - - - 1 Judy Savige
+/+? 2 c.50A>G r.(?) p.(Lys17Arg) Unknown - pathogenic g.228012150T>C g.227147434T>C - - COL4A4_000213 - 1000 genomes - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
?/. 2 c.50A>G r.(?) p.(Lys17Arg) Unknown - VUS g.228012150T>C g.227147434T>C - - COL4A4_000213 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-?/. - c.50A>G r.(?) p.(Lys17Arg) Unknown - likely benign g.228012150T>C - COL4A4(NM_000092.4):c.50A>G (p.K17R) - COL4A4_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71+1del r.spl? p.? Unknown - likely pathogenic g.228012129del g.227147413del COL4A4(NM_000092.5):c.71+1del - COL4A4_000627 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71+1del r.spl? p.? Unknown - pathogenic g.228012129del - COL4A4(NM_000092.5):c.71+1del - COL4A4_000627 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 2i c.71+1G>A r.spl p.? Unknown - - g.228012128C>T g.227147412C>T - - COL4A4_000285 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
+?/. - c.71+1G>A r.spl? p.? Unknown - likely pathogenic g.228012128C>T g.227147412C>T - - COL4A4_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.71+5G>C r.spl? p.? Unknown - VUS g.228012124C>G g.227147408C>G - - COL4A4_000542 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-/. - c.71+10C>T r.(=) p.(=) Unknown - benign g.228012119G>A - COL4A4(NM_000092.4):c.71+10C>T, COL4A4(NM_000092.5):c.71+10C>T - COL4A4_000683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71+10C>T r.(=) p.(=) Unknown - likely benign g.228012119G>A - COL4A4(NM_000092.4):c.71+10C>T, COL4A4(NM_000092.5):c.71+10C>T - COL4A4_000683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.72-26_72-23del r.72_r113del p.Trp24* Maternal (confirmed) ACMG pathogenic (recessive) g.228009300_228009303del g.227144584_227144587del c.72-26_72-23delTAAT - COL4A4_000670 ACMG PVS1 PM2 PP4; might affect branch point PubMed: Wang 2021 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ATS Fam1Pat1 PubMed: Wang 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
-?/. - c.72-18G>A r.(=) p.(=) Unknown - likely benign g.228009292C>T - COL4A4(NM_000092.4):c.72-18G>A - COL4A4_000756 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72-12G>A r.(=) p.(=) Unknown - likely benign g.228009286C>T g.227144570C>T - - COL4A4_000626 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72-3T>C r.spl? p.? Unknown - likely benign g.228009277A>G - COL4A4(NM_000092.4):c.72-3T>C (p.?) - COL4A4_000751 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Paternal (confirmed) - likely pathogenic g.228009262_228009267del g.227144546_227144551del - - COL4A4_000264 - PubMed: Storey 2013 - - Germline - - - - - DNA SEQ - - ATS2 - PubMed: Storey 2013 - F - - - - - - - 1 Helen Storey
+?/. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - likely pathogenic g.228009262_228009267del g.227144546_227144551del - - COL4A4_000264 - PubMed: Storey 2013 - - Germline - - - - - DNA SEQ - - ATS2 - PubMed: Storey 2013 - M - - - - - - - 1 Helen Storey
./. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - - g.228009262_228009267del g.227144546_227144551del 79_84delATACTC - COL4A4_000264 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
./. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - - g.228009262_228009267del g.227144546_227144551del 79_84delATACTC - COL4A4_000264 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
+?/. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - likely pathogenic g.228009262_228009267del g.227144546_227144551del 81_86delACTCAT - COL4A4_000264 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
+?/. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Parent #1 - likely pathogenic g.228009262_228009267del g.227144546_227144551del 81_86delACTCAT - COL4A4_000264 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
+?/. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - likely pathogenic g.228009262_228009267del g.227144546_227144551del 81_86delACTCAT - COL4A4_000264 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
./. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - VUS g.228009262_228009267del g.227144546_227144551del - - COL4A4_000264 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
./. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - VUS g.228009262_228009267del g.227144546_227144551del 81_86delACTCAT - COL4A4_000264 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - BFH;TMN - PubMed: Weber 2016, Journal: Weber 2016 Mother without mutation, father not available F - Germany - - - - - 1 Judy Savige
+/. 3 c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - pathogenic g.228009262_228009267del g.227144546_227144551del 81_86delACTCAT - COL4A4_000264 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - China Chinese - - - - 1 Judy Savige
+/. - c.81_86del r.(?) p.(Ile29_Leu30del) Unknown - pathogenic g.228009262_228009267del - COL4A4(NM_000092.4):c.81_86delACTCAT (p.I29_L30del) - COL4A4_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 3 c.82_85del r.(?) p.(Leu28Phefs*65) Unknown - - g.228009262_228009265del g.227144546_227144549del 81_84delACTC - COL4A4_000287 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
?/. 3 c.86T>A r.(?) p.(Ile29Asn) Unknown - VUS g.228009260A>T g.227144544A>T - - COL4A4_000541 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
+/. 3 c.93_94del r.(?) p.(Ser32Cysfs*28) Parent #1 - pathogenic g.228009254_228009255del g.227144538_227144539del 93_94delTT - COL4A4_000540 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
-/-? 3 c.102A>G r.(?) p.(=) Unknown - benign g.228009244T>C g.227144528T>C - - COL4A4_000004 - PubMed: Baek 2009 - - Germline - - - - - DNA SEQ - - BFH;TMN - PubMed: Baek 2009 - - - Korea - - - - - 1 Judy Savige
-?/. - c.102A>G r.(?) p.(Gln34=) Unknown - likely benign g.228009244T>C g.227144528T>C COL4A4(NM_000092.4):c.102A>G (p.Q34=) - COL4A4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.102A>G r.(?) p.(Gln34=) Unknown - VUS g.228009244T>C g.227144528T>C COL4A4(NM_000092.4):c.102A>G (p.Q34=) - COL4A4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102A>G r.(?) p.(Gln34=) Unknown - likely benign g.228009244T>C - COL4A4(NM_000092.4):c.102A>G (p.Q34=) - COL4A4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.104A>G r.(?) p.(Tyr35Cys) Unknown - pathogenic g.228009242T>C g.227144526T>C - - COL4A4_000005 Compound heterozygous PubMed: Longo 2006 - - Germline - - - - - DNA DHPLC, SEQ - - ATS2 - (PMID:Longo 2006:16338941} - F - Italy - - - - - 2 Judy Savige
./. 3 c.114G>A r.(?) p.(=) Unknown - VUS g.228009232C>T g.227144516C>T - - COL4A4_000539 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
+?/. 3i c.114+1G>C r.spl p.? Unknown - likely pathogenic g.228009231C>G g.227144515C>G IVS3+1G>C - COL4A4_000411 - PubMed: Rosado 2014 - - Germline - - - - - DNA CSGE, SEQ blood - ATS3A - PubMed: Rosado 2014 Haematuria at age 30, proteinuria at 40. Her father diagnosed with ESRF at 75, with high tone hearing loss at 79 M - Spain - - - - - 1 Judy Savige
?/. 3i c.114+2_114+4dup r.spl? p.? Unknown - VUS g.228009228_228009230dup g.227144512_227144514dup 114+2_114+4dupTAA - COL4A4_000538 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
?/. 3i c.114+2_114+4dup r.spl? p.? Unknown - VUS g.228009228_228009230dup g.227144512_227144514dup - - COL4A4_000538 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
?/. - c.116G>A r.(?) p.(Ser39Asn) Unknown - VUS g.228004953C>T g.227140237C>T COL4A4(NM_000092.4):c.116G>A (p.S39N) - COL4A4_000390 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 4 c.138T>C r.(?) p.(=) Unknown - - g.228004931A>G g.227140215A>G - - COL4A4_000262 - 1000 genomes - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Judy Savige
?/. - c.190C>T r.(?) p.(Arg64Trp) Unknown - VUS g.228004879G>A - COL4A4(NM_000092.4):c.190C>T (p.R64W) - COL4A4_000669 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.192+2T>C r.spl p.? Unknown - pathogenic g.228004875A>G g.227140159A>G - - COL4A4_000537 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - China Chinese - - - - 1 Judy Savige
+?/. 4i c.193-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.227985866T>G g.227121150T>G - - COL4A4_000545 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-I blood gene panel ATS HR103B - - M ? Croatia (Hrvatska) white 03y05m - - - 5 Tamara Nikuseva Martic
-/-? 5 c.195T>C r.(?) p.(=) Unknown - benign g.227985862A>G g.227121146A>G - - COL4A4_000006 - PubMed: Tazon Vega 2003 - - Germline - - - - - DNA HD, SSCA, SEQ - - Healthy/Control - PubMed: Tazon Vega 2003 - - - Spain - - - - - 1 Judy Savige
./. 5 c.195T>C r.(?) p.(=) Unknown - - g.227985862A>G g.227121146A>G reported 2 times - COL4A4_000006 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
-?/. - c.195T>C r.(?) p.(Gly65=) Unknown - likely benign g.227985862A>G g.227121146A>G COL4A4(NM_000092.4):c.195T>C (p.G65=) - COL4A4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195T>C r.(?) p.(Gly65=) Unknown - likely benign g.227985862A>G - COL4A4(NM_000092.4):c.195T>C (p.G65=) - COL4A4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.198A>G r.(?) p.(=) Unknown - - g.227985859T>C g.227121143T>C - - COL4A4_000246 - 1000 genomes - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Judy Savige
-?/. - c.198A>G r.(?) p.(Pro66=) Unknown - likely benign g.227985859T>C g.227121143T>C COL4A4(NM_000092.4):c.198A>G (p.P66=) - COL4A4_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198A>G r.(?) p.(Pro66=) Unknown - likely benign g.227985859T>C - COL4A4(NM_000092.4):c.198A>G (p.P66=) - COL4A4_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.217C>T r.(?) p.(Gln73*) Unknown - VUS g.227985840G>A g.227121124G>A - - COL4A4_000536 - PubMed: Fallerini 2014, (DOI:Fallerini 2014:10.1111/cge.12258} - - Germline - - - - - DNA SEQ - - ATS2 - PubMed: Fallerini 2014, (DOI:Fallerini 2014:10.1111/cge.12258} - - - Italy Italian - - - - 1 Judy Savige
?/. - c.218_233del r.(?) p.(Gln73Profs*16) Unknown - VUS g.227985825_227985840del - COL4A4(NM_000092.4):c.218_233delAGGGTCCAATTGGACC (p.(Gln73fs)) - COL4A4_000750 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.230G>A r.(?) p.(Gly77Glu) Unknown - VUS g.227985827C>T g.227121111C>T - - COL4A4_000214 - 1000 genomes - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Judy Savige
+?/. - c.293del r.(?) p.(Gly98AlafsTer23) Unknown - likely pathogenic g.227985765del g.227121049del - - COL4A4_000625 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303A>T r.(?) p.(Gly101=) Unknown - likely benign g.227985754T>A - COL4A4(NM_000092.4):c.303A>T (p.G101=) - COL4A4_000714 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.313del r.(?) p.(Asp105Thrfs*16) Unknown - VUS g.227985747del g.227121031del 313delG - COL4A4_000535 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
-/-? 5i c.327+86C>T r.(?) p.(=) Unknown - benign g.227985644G>A g.227120928G>A - - COL4A4_000007 - PubMed: Marcocci 2009 - - Germline - - - - - DNA DHPLC, SEQ - - ATS3A - PubMed: Marcocci 2009 - - - - - - - - - 1 Judy Savige
+?/. - c.328-1G>A r.spl? p.? Unknown - likely pathogenic g.227984656C>T g.227119940C>T - - COL4A4_000624 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337G>C r.(?) p.(Gly113Arg) Unknown - VUS g.227984646C>G - COL4A4(NM_000092.5):c.337G>C (p.(Gly113Arg)) - COL4A4_000736 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.347G>A r.(?) p.(Gly116Glu) Unknown - likely pathogenic g.227984636C>T g.227119920C>T - - COL4A4_000008 heterozygous; missense PubMed: Buzza 2003 - - Germline - - - - - DNA SEQ - - BFH;TMN - PubMed: Buzza 2003 - - - Australia - - - - - 1 Judy Savige
+?/. 7 c.410G>A r.(?) p.(Gly137Asp) Unknown - likely pathogenic g.227983440C>T g.227118724C>T - - COL4A4_000534 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
./. 7 c.410G>A r.(?) p.Gly137Asp Unknown - VUS g.227983440C>T g.227118724C>T - - COL4A4_000534 - PubMed: Malone 2014, Journal: Malone 2014 - - Germline - - - - - DNA SEQ - - FSGS - PubMed: Malone 2014, Journal: Malone 2014 - F - United States African American - - - - 1 Judy Savige
./. 7 c.436G>A r.(?) p.(Gly146Ser) Unknown - - g.227983414C>T g.227118698C>T - - COL4A4_000289 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
./. 7 c.446G>A r.(?) p.(Gly149Glu) Unknown - VUS g.227983404C>T g.227118688C>T - - COL4A4_000533 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 - F - Germany - - - - - 1 Judy Savige
./. 7 c.446G>A r.(?) p.(Gly149Glu) Unknown - VUS g.227983404C>T g.227118688C>T - - COL4A4_000533 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 - F - Germany - - - - - 1 Judy Savige
./. 7 c.455G>A r.(?) p.(Gly152Glu) Unknown - VUS g.227983395C>T g.227118679C>T - - COL4A4_000532 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ATS2 - PubMed: Moriniere 2014, Journal: Moriniere 2014 - - - France - - - - - 1 Judy Savige
./. 7 c.480_482dup r.(?) p.(Gly161dup) Unknown - - g.227983371_227983373dup g.227118655_227118657dup 478_480dupGGA - COL4A4_000290 - Matonagel - - Germline - - - - - DNA SEQ - - Healthy/Control - Matonagel - - - - - - - - - 1 Judy Savige
+?/. 7 c.481G>C r.(?) p.(Gly161Arg) Unknown - likely pathogenic g.227983369C>G g.227118653C>G - - COL4A4_000531 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - M - United Kingdom (Great Britain) - - - - - 1 Judy Savige
+?/. - c.481G>C r.(?) p.(Gly161Arg) Unknown - likely pathogenic g.227983369C>G g.227118653C>G COL4A4(NM_000092.4):c.481G>C (p.(Gly161Arg)) - COL4A4_000531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.481G>C r.(?) p.(Gly161Arg) Unknown - likely pathogenic g.227983369C>G - COL4A4(NM_000092.4):c.481G>C (p.(Gly161Arg)) - COL4A4_000531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482G>T r.(?) p.(Gly161Val) Unknown - VUS g.227983368C>A g.227118652C>A - - COL4A4_000564 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7i c.489+6A>G r.(?) p.(=) Unknown - likely pathogenic g.227983355T>C g.227118639T>C - - COL4A4_000009 - PubMed: Baek 2009 - - Germline - - - - - DNA SEQ - - BFH;TMN - PubMed: Baek 2009 - - - Korea - - - - - 1 Judy Savige
-/-? 7i c.490-121T>G r.(?) p.(=) Unknown - benign g.227979533A>C g.227114817A>C - - COL4A4_000010 - PubMed: Baek 2009 - - Germline - - - - - DNA SEQ - - BFH;TMN - PubMed: Baek 2009 - - - Korea - - - - - 1 Judy Savige
-/. - c.490-121T>G r.(?) p.? Unknown - benign g.227979533A>C g.227114817A>C - - COL4A4_000010 variant in COL4A4:c.1598G>A homozygote PubMed: Plevova 2023 - rs12465531 Germline - - - - - DNA SEQ - - ATS - PubMed: Plevova 2023 - - - Czech Republic - - - - - 1 Johan den Dunnen
-/. - c.490-72T>A r.(=) p.(=) Unknown - benign g.227979484A>T g.227114768A>T COL4A4(NM_000092.4):c.490-72T>A - COL4A4_000389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.490-40T>C r.(=) p.(=) Unknown - benign g.227979452A>G g.227114736A>G - - COL4A4_000623 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »


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