Full data view for gene UMOD

Information The variants shown are described using the NM_003361.3 transcript reference sequence.

111 entries on 2 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     
-/. - c.-56G>A r.(?) p.(=) Unknown - benign g.20362115C>T g.20350793C>T - - UMOD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-47T>C r.(?) p.(=) Unknown - benign g.20362106A>G g.20350784A>G - - UMOD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89-552A>G r.(=) p.(=) Unknown - likely benign g.20361086T>C g.20349764T>C UMOD(NM_001278614.1):c.187+7A>G - UMOD_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.95G>A r.(?) p.(Cys32Tyr) Parent #1 - pathogenic (dominant) g.20360528C>T g.20349206C>T - - chr16_007654 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamV2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.96C>G r.(?) p.(Cys32Trp) Parent #1 - pathogenic (dominant) g.20360527G>C g.20349205G>C - - chr16_007687 - PubMed: Williams 2009 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam6 PubMed: Williams 2009 - - - - - - - - - 1 Johan den Dunnen
+/. - c.98C>G r.(?) p.(Ser33Cys) Unknown - pathogenic g.20360525G>C g.20349203G>C - - UMOD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.100G>A r.(?) p.(Glu34Lys) Parent #1 - pathogenic (dominant) g.20360523C>T g.20349201C>T - - chr16_007655 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamF2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.115G>A r.(?) p.(Ala39Thr) Unknown - VUS g.20360508C>T g.20349186C>T UMOD(NM_001278614.1):c.214G>A (p.A72T) - UMOD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155G>A r.(?) p.(Cys52Tyr) Unknown - pathogenic g.20360468C>T g.20349146C>T UMOD(NM_003361.3):c.155G>A (p.C52Y) - UMOD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155G>A r.(?) p.(Cys52Tyr) Unknown - pathogenic g.20360468C>T - UMOD(NM_003361.3):c.155G>A (p.C52Y) - UMOD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>A r.(?) p.(Gly58Ser) Unknown - VUS g.20360451C>T g.20349129C>T - - UMOD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.176A>C r.(?) p.(Asp59Ala) Parent #1 - pathogenic (dominant) g.20360447T>G g.20349125T>G A281C - chr16_007656 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam8;FamD2 PubMed: Dahan 2003, PubMed: Bollee 2011 5-generation family, 3 affected (2F, M) - - Belgium - - - - - 3 Johan den Dunnen
?/. - c.176A>G r.(?) p.(Asp59Gly) Unknown - VUS g.20360447T>C - UMOD(NM_003361.3):c.176A>G (p.D59G) - UMOD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.202G>A r.(?) p.(Glu68Lys) Unknown - likely pathogenic g.20360421C>T - UMOD(NM_003361.3):c.202G>A (p.E68K) - UMOD_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203A>G r.(?) p.(Glu68Gly) Unknown - VUS g.20360420T>C g.20349098T>C - - UMOD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.205T>C r.(?) p.(Cys69Arg) Parent #1 - pathogenic (dominant) g.20360418A>G g.20349096A>G - - chr16_007657 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamS1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.264C>T r.(?) p.(Gly88=) Unknown - benign g.20360359G>A g.20349037G>A - - UMOD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.333G>A r.(?) p.(=) Unknown - likely benign g.20360290C>T - UMOD(NM_003361.3):c.333G>A (p.E111=) - UMOD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.334T>C r.(?) p.(Cys112Arg) Parent #1 - pathogenic (dominant) g.20360289A>G g.20348967A>G T439C - chr16_007658 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam6;FamD1 PubMed: Dahan 2003, PubMed: Bollee 2011 4-generation family, 3 affected (F, 2M) - - Belgium - - - - - 3 Johan den Dunnen
+?/. - c.376T>C r.(?) p.(Cys126Arg) Unknown - likely pathogenic g.20360247A>G - UMOD(NM_003361.3):c.376T>C (p.C126R) - UMOD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.376T>C r.(?) p.(Cys126Arg) Parent #1 - pathogenic (dominant) g.20360247A>G g.20348925A>G T481C - UMOD_000047 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam5;FamB1 PubMed: Dahan 2003, PubMed: Bollee 2011 3-generation family, 4 affected (2F, 2M) - - Italy - - - - - 4 Johan den Dunnen
+/. - c.383A>G r.(?) p.(Asn128Ser) Unknown - pathogenic g.20360240T>C - UMOD(NM_001278614.2):c.482A>G (p.N161S) - UMOD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403T>A r.(?) p.(Cys135Ser) Parent #1 - pathogenic (dominant) g.20360220A>T g.20348898A>T - - chr16_007659 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamF4 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.425G>A r.(?) p.(Arg142Gln) Unknown - likely benign g.20360198C>T g.20348876C>T UMOD(NM_003361.3):c.425G>A (p.R142Q) - UMOD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.442T>C r.(?) p.(Cys148Arg) Parent #1 - pathogenic (dominant) g.20360181A>G g.20348859A>G - - chr16_007660 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamL3 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.449G>C r.(?) p.(Cys150Ser) Parent #1 - pathogenic (dominant) g.20360174C>G g.20348852C>G - - chr16_007661 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamF3 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.449G>C r.(?) p.(Cys150Ser) Parent #1 - pathogenic (dominant) g.20360174C>G g.20348852C>G - - chr16_007661 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamG6 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.459C>T r.spl? p.(?) Parent #1 - pathogenic (dominant) g.20360164G>A g.20348842G>A - - chr16_007662 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamC3 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.509G>A r.(?) p.(Cys170Tyr) Parent #1 - pathogenic (dominant) g.20360114C>T g.20348792C>T G614A - chr16_007663 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam4;FamL5 PubMed: Dahan 2003, PubMed: Bollee 2011 4-generation family, 4 affected (3F, M) - - France - - - - - 4 Johan den Dunnen
+/. - c.509G>A r.(?) p.(Cys170Tyr) Parent #1 - pathogenic (dominant) g.20360114C>T g.20348792C>T - - chr16_007663 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamW1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.514G>C r.(?) p.(Asp172His) Parent #1 - pathogenic (dominant) g.20360109C>G g.20348787C>G - - chr16_007664 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamH1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.522C>T r.(?) p.(Cys174=) Unknown - benign g.20360101G>A g.20348779G>A UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=) - UMOD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522C>T r.(?) p.(Cys174=) Unknown - benign g.20360101G>A g.20348779G>A UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=) - UMOD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522C>T r.(?) p.(Cys174=) Unknown - benign g.20360101G>A g.20348779G>A UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=) - UMOD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.538C>G r.(?) p.(Leu180Val) Parent #1 - benign g.20360085G>C g.20348763G>C - - UMOD_000028 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs187555378 Germline - 1/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.538C>G r.(?) p.(Leu180Val) Unknown - benign g.20360085G>C - UMOD(NM_003361.3):c.538C>G (p.L180V) - UMOD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.552G>C r.(?) p.(Trp184Cys) Parent #1 - pathogenic (dominant) g.20360071C>G g.20348749C>G - - chr16_007665 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamB2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.553C>A r.(?) p.(Arg185Ser) Parent #1 - pathogenic (dominant) g.20360070G>T g.20348748G>T C658A - chr16_007667 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam1;FamJ1 PubMed: Dahan 2003, PubMed: Bollee 2011 5-generation family, 13 affected (8F, 5M) - - Belgium - - - - - 13 Johan den Dunnen
+/. 3 c.553C>G Arg185Gly (R185G) p.(Cys32Trp) Parent #1 - pathogenic (dominant) g.20360070G>C g.20348748G>C - - chr16_007688 - PubMed: Williams 2009 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam11 PubMed: Williams 2009 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.553C>T r.(?) p.(Arg185Cys) Parent #1 - likely pathogenic (dominant) g.20360070G>A g.20348748G>A - - UMOD_000048 - - - - Germline - - - - - DNA ? peripheral blood whole exome sequencing ADTKD1;HNFJ1;MCKD2 24CA05642 - 3-generation family, 7 affecteds (4F, 3M) F yes China Asia 36y - yes no 7 Sheng-Guang Li
+/. - c.553C>T r.(?) p.(Arg185Cys) Parent #1 - pathogenic (dominant) g.20360070G>A g.20348748G>A - - UMOD_000048 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamP1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.554G>A r.(?) p.(Arg185His) Parent #1 - pathogenic (dominant) g.20360069C>T g.20348747C>T - - chr16_007666 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamL1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.563_661del r.(?) p.(Glu188_Leu221delinsVal) Parent #1 - pathogenic (dominant) g.20359962_20360060del g.20348640_20348738del 668del99 (E188_L221del) - chr16_007668 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam3;FamG3 PubMed: Dahan 2003, PubMed: Bollee 2011 3-generation family, 4 affected (4M) - - France - - - - - 4 Johan den Dunnen
+/. - c.585_586delinsTA r.(?) p.(Asp196Asn) Parent #1 - pathogenic (dominant) g.20360037_20360038delinsTA g.20348715_20348716delinsTA c0.585_586CG>TA - chr16_007669 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamG1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.586G>A Asp196Asn* (D196N) p.(Cys32Trp) Paternal (confirmed) - pathogenic (dominant) g.20360037C>T g.20348715C>T - - chr16_007689 - PubMed: Williams 2009 - - Germline yes - - - - DNA SEQ - - nephritis/nephropathy Fam5 PubMed: Williams 2009 2-generation family, affected father/2 daughters (2F, M) F;M - - - - - - - 3 Johan den Dunnen
+/. - c.586G>T r.(?) p.(Asp196Tyr) Parent #1 - pathogenic (dominant) g.20360037C>A g.20348715C>A - - chr16_007670 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamR2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.610C>G r.(?) p.(Arg204Gly) Parent #1 - pathogenic (dominant) g.20360013G>C g.20348691G>C C715G - chr16_007672 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam7;FamA1 PubMed: Dahan 2003, PubMed: Bollee 2011 3-generation family, 4 affected (F, 3M) - - Morocco - - - - - 3 Johan den Dunnen
+/. - c.611G>C r.(?) p.(Arg204Pro) Parent #1 - pathogenic (dominant) g.20360012C>G g.20348690C>G c0.610C>G (R204G) - chr16_007671 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamP2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.628G>A r.(?) p.(Gly210Ser) Parent #1 - pathogenic (dominant) g.20359995C>T g.20348673C>T - - chr16_007673 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamD4 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.628G>A r.(?) p.(Gly210Ser) Parent #1 - pathogenic (dominant) g.20359995C>T g.20348673C>T - - chr16_007673 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamP3 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.649T>G r.(?) p.(Cys217Gly) Parent #1 - pathogenic (dominant) g.20359974A>C g.20348652A>C T794G - chr16_007674 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam11;FamB3 PubMed: Bollee 2011 3-generation family, 4 affected (3F, M) - - - - - - - - 4 Johan den Dunnen
+/. 3 c.651C>G Cys217Trp* (C217W) p.(Cys32Trp) Parent #1 - pathogenic (dominant) g.20359972G>C g.20348650G>C - - chr16_007690 - PubMed: Williams 2009 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam15 PubMed: Williams 2009 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.664C>T r.(?) p.(Arg222Cys) Unknown - likely pathogenic g.20359959G>A - UMOD(NM_003361.3):c.664C>T (p.R222C) - UMOD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.665G>C r.(?) p.(Arg222Pro) Parent #1 - pathogenic (dominant) g.20359958C>G g.20348636C>G G770C - chr16_007675 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam2;FamP4 PubMed: Dahan 2003, PubMed: Bollee 2011 4-generation family, 12 affected (6F, 6M) - - France - - - - - 12 Johan den Dunnen
+/. 3 c.667T>C Cys223Arg* (C223R) p.(Cys32Trp) Parent #1 - pathogenic (dominant) g.20359956A>G g.20348634A>G - - chr16_007691 - PubMed: Williams 2009 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam9 PubMed: Williams 2009 - - - - - - - - - 1 Johan den Dunnen
+/. - c.674C>T r.(?) p.(Thr225Met) Parent #1 - pathogenic (dominant) g.20359949G>A g.20348627G>A C779T - chr16_007676 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam9FamG4 PubMed: Dahan 2003, PubMed: Bollee 2011 4-generation family, 9 affected (4F, 5M) - - France - - - - - 9 Johan den Dunnen
+/. - c.674C>T r.(?) p.(Thr225Met) Parent #1 - pathogenic (dominant) g.20359949G>A g.20348627G>A - - chr16_007676 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamL2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.674C>T r.(?) p.(Thr225Met) Parent #1 - pathogenic (dominant) g.20359949G>A g.20348627G>A - - chr16_007676 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamL6 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.686T>C r.(?) p.(Met229Thr) Unknown - likely pathogenic g.20359937A>G g.20348615A>G - - UMOD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692T>C r.(?) p.(Leu231Pro) Unknown - VUS g.20359931A>G g.20348609A>G - - UMOD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.707C>G r.(?) p.(Pro236Arg) Unknown - pathogenic g.20359916G>C g.20348594G>C - - UMOD_000001 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT 29100090-FamDC5 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.707C>G r.(?) p.(Pro236Arg) Unknown - likely pathogenic g.20359916G>C g.20348594G>C - - UMOD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.707C>T r.(?) p.(Pro236Leu) Unknown - likely pathogenic g.20359916G>A - - - UMOD_000032 - - - rs1447458978 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.707C>T r.(?) p.(Pro236Leu) Unknown - likely pathogenic g.20359916G>A - UMOD(NM_003361.3):c.707C>T (p.P236L) - UMOD_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.707C>T r.(?) p.(Pro236Leu) Parent #1 - pathogenic (dominant) g.20359916G>A g.20348594G>A - - UMOD_000032 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamL4 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.707C>T r.(?) p.(Pro236Leu) Parent #1 - pathogenic (dominant) g.20359916G>A g.20348594G>A - - UMOD_000032 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamB4 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.710C>G r.(?) p.(Ser237Cys) Parent #1 - pathogenic (dominant) g.20359913G>C g.20348591G>C - - chr16_007677 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamD3 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.749A>T r.(?) p.(His250Leu) Parent #1 - pathogenic (dominant) g.20359874T>A g.20348552T>A - - chr16_007678 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamR1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.792G>A r.(?) p.(Val264=) Unknown - benign g.20359831C>T g.20348509C>T UMOD(NM_003361.3):c.792G>A (p.V264=) - UMOD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.792G>A r.(?) p.(Val264=) Unknown - benign g.20359831C>T g.20348509C>T UMOD(NM_003361.3):c.792G>A (p.V264=) - UMOD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.808G>T r.(?) p.(Gly270Cys) Unknown - likely pathogenic g.20359815C>A g.20348493C>A - - UMOD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.817G>A r.(?) p.(Val273Ile) Parent #1 - pathogenic (dominant) g.20359806C>T g.20348484C>T - - chr16_007679 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamV1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.844T>C r.(?) p.(Cys282Arg) Parent #1 - pathogenic (dominant) g.20359779A>G g.20348457A>G T949C - chr16_007680 variant not in 300 control chromosomes PubMed: Dahan 2003, PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy Fam10;FamG2 PubMed: Dahan 2003, PubMed: Bollee 2011 2-generation family, 3 affected (F, 2M) - - France - - - - - 3 Johan den Dunnen
+/. - c.854C>A r.(?) p.(Ala285Glu) Parent #1 - pathogenic (dominant) g.20359769G>T g.20348447G>T c0.855C>A (A285E) - chr16_007681 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamP5 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.860G>C r.(?) p.(Cys287Ser) Unknown - VUS g.20359763C>G g.20348441C>G - - UMOD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.885G>A r.(?) p.(Gly295=) Unknown - benign g.20359633C>T g.20348311C>T - - UMOD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.888G>T r.(?) p.(Thr296=) Unknown - likely benign g.20359630C>A - UMOD(NM_003361.3):c.888G>T (p.T296=) - UMOD_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.890G>A r.(?) p.(Cys297Tyr) Parent #1 - pathogenic (dominant) g.20359628C>T g.20348306C>T c0.893G>A (C297Y) - chr16_007683 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamG5 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.891T>G r.(?) p.(Cys297Trp) Parent #1 - pathogenic (dominant) g.20359627A>C g.20348305A>C - - chr16_007682 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamS2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.898T>C r.(?) p.(Cys300Arg) Unknown - likely pathogenic g.20359620A>G g.20348298A>G - - UMOD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.899G>A r.(?) p.(Cys300Tyr) Unknown - likely pathogenic g.20359619C>T - UMOD(NM_003361.3):c.899G>A (p.C300Y) - UMOD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.944G>A r.(?) p.(Cys315Tyr) Parent #1 - pathogenic (dominant) g.20359574C>T g.20348252C>T - - chr16_007684 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamF1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.944G>A r.(?) p.(Cys315Tyr) Parent #1 - pathogenic (dominant) g.20359574C>T g.20348252C>T - - chr16_007684 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamL7 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.944G>A r.(?) p.(Cys315Tyr) Parent #1 - pathogenic (dominant) g.20359574C>T g.20348252C>T - - chr16_007684 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamL8 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.973+1G>A r.spl? p.? Unknown - likely benign g.20359544C>T g.20348222C>T - - UMOD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.973+7C>T r.(=) p.(=) Unknown - likely benign g.20359538G>A - UMOD(NM_003361.3):c.973+7C>T - UMOD_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1039T>C r.(?) p.(Cys347Arg) Unknown - likely pathogenic g.20357591A>G g.20346269A>G UMOD(NM_001008389.3):c.1039T>C (p.C347R) - UMOD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062C>T r.(?) p.(Phe354=) Unknown - likely benign g.20357568G>A - UMOD(NM_003361.3):c.1062C>T (p.F354=) - UMOD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1124G>A r.(?) p.(Arg375Gln) Unknown - likely benign g.20357506C>T - UMOD(NM_001278614.1):c.1223G>A (p.R408Q) - UMOD_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353C>G r.(?) p.(=) Unknown - likely benign g.20352637G>C - UMOD(NM_003361.3):c.1353C>G (p.G451=) - UMOD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1372G>T r.(?) p.(Val458Leu) Unknown - benign g.20352618C>A g.20341296C>A UMOD(NM_001278614.2):c.1471G>T (p.V491L) - UMOD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1372G>T r.(?) p.(Val458Leu) Parent #1 - benign g.20352618C>A g.20341296C>A - - UMOD_000003 172 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55772253 Germline - 172/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 172 Mohammed Faruq
-/. - c.1372G>T r.(?) p.(Val458Leu) Both (homozygous) - benign g.20352618C>A g.20341296C>A - - UMOD_000003 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs55772253 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.1375C>T r.(?) p.(Arg459Trp) Parent #1 - likely benign g.20352615G>A g.20341293G>A - - UMOD_000027 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139607138 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1375C>T r.(?) p.(Arg459Trp) Unknown - likely benign g.20352615G>A - UMOD(NM_003361.3):c.1375C>T (p.R459W) - UMOD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1376G>A r.(?) p.(Arg459Gln) Unknown - likely benign g.20352614C>T - UMOD(NM_003361.3):c.1376G>A (p.R459Q) - UMOD_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1382C>A r.(?) p.(Ala461Glu) Parent #1 - pathogenic (dominant) g.20352608G>T g.20341286G>T - - chr16_007685 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamC2 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1406C>T r.(?) p.(Thr469Met) Unknown - benign g.20352584G>A g.20341262G>A UMOD(NM_003361.3):c.1406C>T (p.T469M) - UMOD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1406C>T r.(?) p.(Thr469Met) Parent #1 - pathogenic (dominant) g.20352584G>A g.20341262G>A - - UMOD_000002 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamM1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1462G>C r.(?) p.(Gly488Arg) Parent #1 - pathogenic (dominant) g.20352528C>G g.20341206C>G c0.1462G>A (G488R) - chr16_007686 variant not in 300 control chromosomes PubMed: Bollee 2011 - - Germline - - - - - DNA SEQ - - nephritis/nephropathy FamC1 PubMed: Bollee 2011 - - - - - - - - - 1 Johan den Dunnen
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