CTU2 — 374 ClinVar variants
All ClinVar germline CTU2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →
3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 12 Conflicting · 47 Benign · 6 Benign/Likely benign · 92 Likely benign · 210 Uncertain significance
Full CTU2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 201
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CTU2 p.Cys433Ser Conflicting Single submitter
-
CTU2 p.Leu63Pro
Conflicting
Single submitter
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- CTU2 p.Phe142Leu Conflicting Single submitter
- CTU2 p.Pro135Arg Conflicting Single submitter
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTU2 p.Ala400Thr Uncertain significance Multiple submitters
- CTU2 p.Arg443Cys Uncertain significance Multiple submitters
- CTU2 p.Arg67Gln Uncertain significance Multiple submitters
- CTU2 p.Asp509Gly Uncertain significance Multiple submitters
- CTU2 p.Cys463Ser Uncertain significance Multiple submitters
- CTU2 p.Glu296Ala Uncertain significance Multiple submitters
- CTU2 p.Met417Ile Uncertain significance Multiple submitters
- CTU2 p.Ala108Val Uncertain significance Single submitter
- CTU2 p.Ala173Thr Uncertain significance Single submitter
- CTU2 p.Ala331Ser Uncertain significance Single submitter
- CTU2 p.Ala441Asp Uncertain significance Single submitter
- CTU2 p.Arg105Leu Uncertain significance Single submitter
- CTU2 p.Arg255Gly Uncertain significance Single submitter
- CTU2 p.Arg283Leu Uncertain significance Single submitter
- CTU2 p.Arg376Leu Uncertain significance Single submitter
- CTU2 p.Arg413Cys Uncertain significance Single submitter
- CTU2 p.Arg427Trp Uncertain significance Single submitter
- CTU2 p.Arg443His Uncertain significance Single submitter
- CTU2 p.Arg443Pro Uncertain significance Single submitter
- CTU2 p.Asn212Asp Uncertain significance Single submitter
- CTU2 p.Asn66Lys Uncertain significance Single submitter
- CTU2 p.Asp290His Uncertain significance Single submitter
- CTU2 p.Asp309His Uncertain significance Single submitter
- CTU2 p.Asp377His Uncertain significance Single submitter
- CTU2 p.Asp377Val Uncertain significance Single submitter
- CTU2 p.Asp398Asn Uncertain significance Single submitter
- CTU2 p.Asp401Glu Uncertain significance Single submitter
- CTU2 p.Asp453Glu Uncertain significance Single submitter
- CTU2 p.Cys162Arg Uncertain significance Single submitter
- CTU2 p.Cys391Ser Uncertain significance Single submitter
- CTU2 p.Cys444Ser Uncertain significance Single submitter
- CTU2 p.Cys449Gly Uncertain significance Single submitter
- CTU2 p.Cys503Arg Uncertain significance Single submitter
- CTU2 p.Gln165Arg Uncertain significance Single submitter
-
CTU2 p.Gln165Glu
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- CTU2 p.Gln184Glu Uncertain significance Single submitter
- CTU2 p.Gln211Arg Uncertain significance Single submitter
- CTU2 p.Gln26Arg Uncertain significance Single submitter
- CTU2 p.Gln455Leu Uncertain significance Single submitter
- CTU2 p.Gln461Arg Uncertain significance Single submitter
- CTU2 p.Gln514Lys Uncertain significance Single submitter
- CTU2 p.Glu14Gln Uncertain significance Single submitter
- CTU2 p.Glu25Lys Uncertain significance Single submitter
- CTU2 p.Gly172Glu Uncertain significance Single submitter
- CTU2 p.Gly192Val Uncertain significance Single submitter
- CTU2 p.Gly299Arg Uncertain significance Single submitter
- CTU2 p.Gly437Ala Uncertain significance Single submitter
- CTU2 p.Gly445Ser Uncertain significance Single submitter
- CTU2 p.Gly447Glu Uncertain significance Single submitter
- CTU2 p.Gly496Ser Uncertain significance Single submitter
- CTU2 p.Gly513Arg Uncertain significance Single submitter
- CTU2 p.Gly81Arg Uncertain significance Single submitter
- CTU2 p.Gly82Glu Uncertain significance Single submitter
- CTU2 p.Gly95Asp Uncertain significance Single submitter
- CTU2 p.Gly9Glu Uncertain significance Single submitter
- CTU2 p.His252Asn Uncertain significance Single submitter
- CTU2 p.Ile273Val Uncertain significance Single submitter
- CTU2 p.Ile40Lys Uncertain significance Single submitter
- CTU2 p.Leu242Pro Uncertain significance Single submitter
- CTU2 p.Leu245Pro Uncertain significance Single submitter
- CTU2 p.Leu251Phe Uncertain significance Single submitter
- CTU2 p.Leu504Val Uncertain significance Single submitter
- CTU2 p.Lys102Arg Uncertain significance Single submitter
- CTU2 p.Lys238Arg Uncertain significance Single submitter
- CTU2 p.Lys261Gln Uncertain significance Single submitter
- CTU2 p.Lys370Glu Uncertain significance Single submitter
- CTU2 p.Lys471Gln Uncertain significance Single submitter
- CTU2 p.Met307Arg Uncertain significance Single submitter
- CTU2 p.Met307Thr Uncertain significance Single submitter
- CTU2 p.Met346Ile Uncertain significance Single submitter
- CTU2 p.Met346Val Uncertain significance Single submitter
- CTU2 p.Met392Ile Uncertain significance Single submitter
- CTU2 p.Met392Thr Uncertain significance Single submitter
- CTU2 p.Phe357Leu Uncertain significance Single submitter
- CTU2 p.Pro11Gln Uncertain significance Single submitter
- CTU2 p.Pro16Ser Uncertain significance Single submitter
- CTU2 p.Pro17Ala Uncertain significance Single submitter
- CTU2 p.Pro196Thr Uncertain significance Single submitter
- CTU2 p.Pro203Ser Uncertain significance Single submitter
- CTU2 p.Pro420Ser Uncertain significance Single submitter
- CTU2 p.Pro429Ala Uncertain significance Single submitter
- CTU2 p.Pro480Leu Uncertain significance Single submitter
- CTU2 p.Ser154Thr Uncertain significance Single submitter
- CTU2 p.Ser23Thr Uncertain significance Single submitter
- CTU2 p.Ser359Ala Uncertain significance Single submitter
- CTU2 p.Ser411Ala Uncertain significance Single submitter
- CTU2 p.Ser412Leu Uncertain significance Single submitter
- CTU2 p.Ser465Arg Uncertain significance Single submitter
- CTU2 p.Thr129Ile Uncertain significance Single submitter
- CTU2 p.Thr244Ala Uncertain significance Single submitter
- CTU2 p.Thr244Ile Uncertain significance Single submitter
- CTU2 p.Thr311Ile Uncertain significance Single submitter
- CTU2 p.Thr329Ile Uncertain significance Single submitter
- CTU2 p.Trp161Cys Uncertain significance Single submitter
- CTU2 p.Trp440Gly Uncertain significance Single submitter
- CTU2 p.Tyr8Asn Uncertain significance Single submitter
- CTU2 p.Val29Ala Uncertain significance Single submitter
- CTU2 p.Val324Ile Uncertain significance Single submitter
- CTU2 p.Val324Leu Uncertain significance Single submitter
- CTU2 p.Val438Met Uncertain significance Single submitter
- CTU2 p.Arg126Thr Uncertain significance No assertion criteria
Predictors split 96
The independent predictors disagree with each other — read with care.
- CTU2 p.Ala118Val Benign Multiple submitters
- CTU2 p.Ala176Val Uncertain significance Multiple submitters
-
CTU2 p.Arg467Cys
Benign/Likely benign
Multiple submitters
congenital anomaly of kidney and urinary tract
- CTU2 p.Arg490Cys Uncertain significance Multiple submitters
- CTU2 p.His186Tyr Benign Multiple submitters
- CTU2 p.Pro216Leu Uncertain significance Multiple submitters
- CTU2 p.Pro481Leu Uncertain significance Multiple submitters
- CTU2 p.Thr404Met Uncertain significance Multiple submitters
- CTU2 p.Val37Leu Uncertain significance Multiple submitters
- CTU2 p.Ala19Val Uncertain significance Single submitter
- CTU2 p.Ala237Val Uncertain significance Single submitter
- CTU2 p.Ala280Val Uncertain significance Single submitter
- CTU2 p.Ala316Gly Uncertain significance Single submitter
- CTU2 p.Ala348Val Uncertain significance Single submitter
- CTU2 p.Ala403Val Uncertain significance Single submitter
- CTU2 p.Ala42Thr Uncertain significance Single submitter
- CTU2 p.Ala45Val Uncertain significance Single submitter
- CTU2 p.Ala487Thr Uncertain significance Single submitter
- CTU2 p.Ala78Val Uncertain significance Single submitter
- CTU2 p.Arg105Cys Uncertain significance Single submitter
- CTU2 p.Arg246Gln Uncertain significance Single submitter
- CTU2 p.Arg246Trp Uncertain significance Single submitter
- CTU2 p.Arg24Cys Uncertain significance Single submitter
- CTU2 p.Arg270Cys Uncertain significance Single submitter
- CTU2 p.Arg283Gln Uncertain significance Single submitter
- CTU2 p.Arg297Trp Uncertain significance Single submitter
- CTU2 p.Arg305Trp Uncertain significance Single submitter
- CTU2 p.Arg308Gln Uncertain significance Single submitter
- CTU2 p.Arg320Cys Uncertain significance Single submitter
- CTU2 p.Arg320His Uncertain significance Single submitter
- CTU2 p.Arg344Gln Uncertain significance Single submitter
- CTU2 p.Arg376Trp Uncertain significance Single submitter
- CTU2 p.Arg387Cys Conflicting Single submitter
- CTU2 p.Arg387His Uncertain significance Single submitter
- CTU2 p.Arg41Gly Uncertain significance Single submitter
- CTU2 p.Arg467Gly Uncertain significance Single submitter
- CTU2 p.Arg467His Uncertain significance Single submitter
- CTU2 p.Arg490His Uncertain significance Single submitter
-
CTU2 p.Arg67Trp
Conflicting
Single submitter
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- CTU2 p.Asp333Asn Uncertain significance Single submitter
- CTU2 p.Asp333Tyr Uncertain significance Single submitter
- CTU2 p.Asp509Asn Uncertain significance Single submitter
- CTU2 p.Gln243Arg Uncertain significance Single submitter
- CTU2 p.Gln409Pro Likely benign Single submitter
- CTU2 p.Gln492His Uncertain significance Single submitter
- CTU2 p.Gln498Glu Uncertain significance Single submitter
- CTU2 p.Glu151Lys Uncertain significance Single submitter
- CTU2 p.Glu239Asp Uncertain significance Single submitter
- CTU2 p.Glu240Lys Uncertain significance Single submitter
- CTU2 p.Glu511Gln Uncertain significance Single submitter
- CTU2 p.Glu511Lys Conflicting Single submitter
- CTU2 p.Gly120Val Uncertain significance Single submitter
- CTU2 p.Gly258Arg Uncertain significance Single submitter
- CTU2 p.Gly258Ser Uncertain significance Single submitter
- CTU2 p.Gly81Ala Uncertain significance Single submitter
- CTU2 p.Ile458Thr Uncertain significance Single submitter
- CTU2 p.Leu228Met Uncertain significance Single submitter
- CTU2 p.Leu242Gln Uncertain significance Single submitter
- CTU2 p.Leu63Val Uncertain significance Single submitter
- CTU2 p.Lys238Glu Uncertain significance Single submitter
- CTU2 p.Met88Val Uncertain significance Single submitter
- CTU2 p.Phe286Leu Uncertain significance Single submitter
- CTU2 p.Phe293Leu Uncertain significance Single submitter
- CTU2 p.Phe293Tyr Uncertain significance Single submitter
- CTU2 p.Phe54Leu Uncertain significance Single submitter
- CTU2 p.Pro156Leu Uncertain significance Single submitter
- CTU2 p.Pro157Arg Uncertain significance Single submitter
- CTU2 p.Pro196Leu Conflicting Single submitter
-
CTU2 p.Pro204Leu
Conflicting
Single submitter
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- CTU2 p.Pro216Gln Uncertain significance Single submitter
- CTU2 p.Pro217Arg Uncertain significance Single submitter
- CTU2 p.Pro219Arg Uncertain significance Single submitter
- CTU2 p.Pro219Ser Uncertain significance Single submitter
- CTU2 p.Pro330Leu Uncertain significance Single submitter
- CTU2 p.Pro386Ser Uncertain significance Single submitter
- CTU2 p.Pro83Thr Uncertain significance Single submitter
- CTU2 p.Ser158Leu Uncertain significance Single submitter
- CTU2 p.Ser267Gly Uncertain significance Single submitter
- CTU2 p.Ser323Cys Uncertain significance Single submitter
- CTU2 p.Ser326Phe Uncertain significance Single submitter
- CTU2 p.Ser508Thr Uncertain significance Single submitter
- CTU2 p.Ser84Leu Uncertain significance Single submitter
- CTU2 p.Ser86Arg Uncertain significance Single submitter
- CTU2 p.Ser86Asn Uncertain significance Single submitter
- CTU2 p.Thr140Ile Uncertain significance Single submitter
- CTU2 p.Thr197Asn Uncertain significance Single submitter
- CTU2 p.Thr236Asn Uncertain significance Single submitter
- CTU2 p.Thr244Ser Uncertain significance Single submitter
- CTU2 p.Thr291Met Uncertain significance Single submitter
- CTU2 p.Thr363Ala Uncertain significance Single submitter
- CTU2 p.Thr424Ile Uncertain significance Single submitter
- CTU2 p.Tyr174His Uncertain significance Single submitter
- CTU2 p.Val168Met Uncertain significance Single submitter
- CTU2 p.Val302Met Uncertain significance Single submitter
- CTU2 p.Val324Phe Uncertain significance Single submitter
- CTU2 p.Val4Met Uncertain significance Single submitter
All CTU2 variants
Pathogenic 3
- c.282+5G>A Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Thr291= Multiple submitters microcephaly
- p.Ala403fs Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Pathogenic/Likely pathogenic 1
- p.Gln243Ter Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Likely pathogenic 3
- c.1420-1G>A Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.453+1G>A Single submitter
- p.Asp300fs No assertion criteria CTU2-related disorder
Conflicting classifications of pathogenicity 12
- c.1479-6C>G Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Arg387Cys Single submitter ⚠
- p.Arg67Trp Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ⚠
- p.Cys433Ser Single submitter ⚠
- p.Glu511Lys Single submitter ⚠
- p.Ile505fs Single submitter
- p.Leu63Pro Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ⚠
- p.Phe142Leu Single submitter ⚠
- p.Pro135Arg Single submitter ⚠
- p.Pro196Leu Single submitter ⚠
- p.Pro204Leu Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome ⚠
- p.Ser294Ter Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Benign 47
- c.1006-26A>G Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.1097+1GT[4] Multiple submitters
- c.1097+6_1097+11del Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.1201+29C>G Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.1420-37A>G Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.1478+20C>T Multiple submitters
- c.344-67G>A Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.69-16C>A Multiple submitters
- c.737+10C>T Multiple submitters
- c.873+10G>A Multiple submitters
- p.Ala108Pro Multiple submitters
- p.Ala118Val Multiple submitters ⚠
- p.Arg427Gln Multiple submitters
- p.Arg501= Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Asp453Asn Multiple submitters
- p.Cys444= Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Cys449= Multiple submitters
- p.Gln416Arg Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Gly374Cys Multiple submitters
- p.Gly407= Multiple submitters
- p.Gly9Arg Multiple submitters
- p.His186Tyr Multiple submitters ⚠
- p.His257= Multiple submitters
- p.Leu167= Multiple submitters
- p.Leu423= Multiple submitters
- p.Met253Val Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Pro206Ala Multiple submitters
- p.Pro430Leu Multiple submitters
- p.Ser323= Multiple submitters
- p.Thr355= Multiple submitters
- p.Tyr174= Multiple submitters
- p.Val152= Multiple submitters
- p.Val303= Multiple submitters
- p.Val332Ile Multiple submitters
- c.1097+14_1097+23del Single submitter
- c.1097+6_1097+32del Single submitter
- c.1478+7G>A Single submitter
- c.68+20C>G Single submitter
- c.737+10_737+52del Single submitter
- c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC Single submitter
- c.737+21_737+63del Single submitter
- c.737+21del Single submitter
- c.737+64_737+105del Single submitter
- p.Ala176= Single submitter
- p.Ala190= Single submitter
- p.Glu25Ala Single submitter
- p.Gly385Ser Single submitter
Benign/Likely benign 6
- c.282+18C>T Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.69-19C>T Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Arg376Gln Multiple submitters
- p.Arg467Cys Multiple submitters congenital anomaly of kidney and urinary tract ⚠
- p.Ser475= Multiple submitters
- p.Val397= Multiple submitters
Likely benign 92
- c.1353-5C>T Multiple submitters
- p.Asp509= Multiple submitters
- p.Asp510= Multiple submitters
- p.His257Gln Multiple submitters
- p.Leu497= Multiple submitters
- p.Ser158= Multiple submitters
- c.1005+13G>A Single submitter
- c.1006-6C>T Single submitter
- c.1097+10_1097+36del Single submitter
- c.1097+18T>A Single submitter
- c.1098-9C>T Single submitter
- c.1201+11C>A Single submitter
- c.1201+15C>G Single submitter
- c.1202-13T>C Single submitter
- c.1420-15C>T Single submitter
- c.143+18C>A Single submitter
- c.143+19T>C Single submitter
- c.222+12G>C Single submitter
- c.222+8C>A Single submitter
- c.223-20T>A Single submitter
- c.282+19G>A Single submitter
- c.344-113G>A Single submitter
- c.344-122C>T Single submitter
- c.454-17C>T Single submitter
- c.454-19G>A Single submitter
- c.68+12C>T Single submitter
- c.737+18C>T Single submitter
- c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGACCCCCC Single submitter
- c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCC Single submitter
- c.737+20_737+21insTTCCCCGGGCCCTGACCCCCCCTCATGCCCCTGAGAGCCCCC Single submitter
- c.737+7C>A Single submitter
- c.737+9_737+10insTGAGAG Single submitter
- c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC Single submitter
- c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC Single submitter
- c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCTCCTTCCCCGGGCCCTGACCCCCACTCATACCCC Single submitter
- c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC Single submitter
- c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCCCTCATGCCCC Single submitter
- c.737+9_737+10insTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC Single submitter
- c.738-10T>C Single submitter
- c.738-14G>A Single submitter
- c.738-15C>G Single submitter
- c.738-6C>T Single submitter
- c.874-14C>T Single submitter
- c.874-19C>G Single submitter
- c.874-5C>T Single submitter
- p.Ala12= Single submitter
- p.Ala256Val Single submitter
- p.Ala280= Single submitter
- p.Ala45= Single submitter
- p.Arg233Lys Single submitter
- p.Arg255Leu Single submitter
- p.Arg270= Single submitter
- p.Asn212Ser Single submitter
- p.Asp383= Single submitter
- p.Asp396= Single submitter
- p.Asp398= Single submitter
- p.Cys503Tyr Single submitter
- p.Gln409Pro Single submitter ⚠
- p.Glu125= Single submitter
- p.Glu240= Single submitter
- p.Gly191= Single submitter
- p.Ile505= Single submitter
- p.Leu188= Single submitter
- p.Leu208= Single submitter
- p.Leu228= Single submitter
- p.Lys52= Single submitter
- p.Phe286= Single submitter
- p.Phe322= Single submitter
- p.Pro204= Single submitter
- p.Pro216= Single submitter
- p.Pro481= Single submitter
- p.Ser226= Single submitter
- p.Ser294= Single submitter
- p.Ser326= Single submitter
- p.Ser341= Single submitter
- p.Ser359= Single submitter
- p.Ser84= Single submitter
- p.Tyr318= Single submitter
- p.Val332= Single submitter
- p.Val397Ile Single submitter
- c.1201+7_1201+8del No assertion criteria CTU2-related disorder
- c.1202-8G>A No assertion criteria CTU2-related disorder
- c.1353-4G>A No assertion criteria CTU2-related disorder
- c.1419+8C>T No assertion criteria CTU2-related disorder
- c.223-7C>T No assertion criteria CTU2-related disorder
- c.454-6C>T No assertion criteria CTU2-related disorder
- c.-3C>G No assertion criteria CTU2-related disorder
- p.Ala131= No assertion criteria CTU2-related disorder
- p.Arg246= No assertion criteria CTU2-related disorder
- p.His298= No assertion criteria CTU2-related disorder
- p.Leu395= No assertion criteria CTU2-related disorder
- p.Thr129= No assertion criteria CTU2-related disorder
Uncertain significance 210
- p.Ala176Val Multiple submitters ⚠
- p.Ala400Thr Multiple submitters ⚠
- p.Arg443Cys Multiple submitters ⚠
- p.Arg490Cys Multiple submitters ⚠
- p.Arg67Gln Multiple submitters ⚠
- p.Asp509Gly Multiple submitters ⚠
- p.Cys463Ser Multiple submitters ⚠
- p.Gln416Ter Multiple submitters microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Glu296Ala Multiple submitters ⚠
- p.Met417Ile Multiple submitters ⚠
- p.Pro216Leu Multiple submitters ⚠
- p.Pro481Leu Multiple submitters ⚠
- p.Thr404Met Multiple submitters ⚠
- p.Val37Leu Multiple submitters ⚠
- c.1097+6G>T Single submitter
- c.1098-3C>G Single submitter
- c.1201+5G>A Single submitter
- c.1420-3C>T Single submitter
- c.143+3G>T Single submitter
- c.1479-10_1479-9del Single submitter
- c.343+5G>T Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.453+98C>T Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC Single submitter
- c.737+20_737+21insTTCCCCGGGCCCTGACCGCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC Single submitter
- c.737+21_737+63dup Single submitter
- p.Ala108Val Single submitter ⚠
- p.Ala173Thr Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala237Val Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala316Gly Single submitter ⚠
- p.Ala331Ser Single submitter ⚠
- p.Ala348Val Single submitter ⚠
- p.Ala403Val Single submitter ⚠
- p.Ala42Thr Single submitter ⚠
- p.Ala441Asp Single submitter ⚠
- p.Ala45Val Single submitter ⚠
- p.Ala487Thr Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg105Leu Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg255Gly Single submitter ⚠
- p.Arg270Cys Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg283Leu Single submitter ⚠
- p.Arg297Trp Single submitter ⚠
- p.Arg305Trp Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg320Cys Single submitter ⚠
- p.Arg320His Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg376Leu Single submitter ⚠
- p.Arg376Trp Single submitter ⚠
- p.Arg387His Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg41Gly Single submitter ⚠
- p.Arg427Trp Single submitter ⚠
- p.Arg443His Single submitter ⚠
- p.Arg443Pro Single submitter ⚠
- p.Arg467Gly Single submitter ⚠
- p.Arg467His Single submitter ⚠
- p.Arg490His Single submitter ⚠
- p.Arg501Cys Single submitter
- p.Asn212Asp Single submitter ⚠
- p.Asn66Lys Single submitter ⚠
- p.Asp114= Single submitter
- p.Asp290His Single submitter ⚠
- p.Asp309His Single submitter ⚠
- p.Asp333Asn Single submitter ⚠
- p.Asp333Tyr Single submitter ⚠
- p.Asp377His Single submitter ⚠
- p.Asp377Val Single submitter ⚠
- p.Asp398Asn Single submitter ⚠
- p.Asp401Glu Single submitter ⚠
- p.Asp453Glu Single submitter ⚠
- p.Asp509Asn Single submitter ⚠
- p.Cys162Arg Single submitter ⚠
- p.Cys391Ser Single submitter ⚠
- p.Cys444Ser Single submitter ⚠
- p.Cys449Gly Single submitter ⚠
- p.Cys503Arg Single submitter ⚠
- p.Gln165Arg Single submitter ⚠
- p.Gln165Glu Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Gln184Glu Single submitter ⚠
- p.Gln184Ter Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Gln211Arg Single submitter ⚠
- p.Gln243Arg Single submitter ⚠
- p.Gln26Arg Single submitter ⚠
- p.Gln455Leu Single submitter ⚠
- p.Gln461Arg Single submitter ⚠
- p.Gln492His Single submitter ⚠
- p.Gln498Glu Single submitter ⚠
- p.Gln514Lys Single submitter ⚠
- p.Glu14_Pro20del Single submitter
- p.Glu14Gln Single submitter ⚠
- p.Glu151Lys Single submitter ⚠
- p.Glu239Asp Single submitter ⚠
- p.Glu240del Single submitter
- p.Glu240Lys Single submitter ⚠
- p.Glu25Lys Single submitter ⚠
- p.Glu511Gln Single submitter ⚠
- p.Gly120Val Single submitter ⚠
- p.Gly172Glu Single submitter ⚠
- p.Gly192Val Single submitter ⚠
- p.Gly258Arg Single submitter ⚠
- p.Gly258Ser Single submitter ⚠
- p.Gly299Arg Single submitter ⚠
- p.Gly437Ala Single submitter ⚠
- p.Gly445Ser Single submitter ⚠
- p.Gly447Glu Single submitter ⚠
- p.Gly496Ser Single submitter ⚠
- p.Gly513Arg Single submitter ⚠
- p.Gly81Ala Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Gly82Glu Single submitter ⚠
- p.Gly95Asp Single submitter ⚠
- p.Gly9Glu Single submitter ⚠
- p.His252Asn Single submitter ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile40Lys Single submitter ⚠
- p.Ile458Thr Single submitter ⚠
- p.Leu228Met Single submitter ⚠
- p.Leu242Gln Single submitter ⚠
- p.Leu242Pro Single submitter ⚠
- p.Leu245Pro Single submitter ⚠
- p.Leu251Phe Single submitter ⚠
- p.Leu279= Single submitter microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Leu504Val Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Lys102Arg Single submitter ⚠
- p.Lys238Arg Single submitter ⚠
- p.Lys238Glu Single submitter ⚠
- p.Lys261Gln Single submitter ⚠
- p.Lys370Glu Single submitter ⚠
- p.Lys471del Single submitter
- p.Lys471Gln Single submitter ⚠
- p.Met307Arg Single submitter ⚠
- p.Met307Thr Single submitter ⚠
- p.Met346Ile Single submitter ⚠
- p.Met346Val Single submitter ⚠
- p.Met392Ile Single submitter ⚠
- p.Met392Thr Single submitter ⚠
- p.Met88Val Single submitter ⚠
- p.Phe286Leu Single submitter ⚠
- p.Phe293Leu Single submitter ⚠
- p.Phe293Tyr Single submitter ⚠
- p.Phe357Leu Single submitter ⚠
- p.Phe54Leu Single submitter ⚠
- p.Pro11Gln Single submitter ⚠
- p.Pro156Leu Single submitter ⚠
- p.Pro157Arg Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro17Ala Single submitter ⚠
- p.Pro196Thr Single submitter ⚠
- p.Pro203Ser Single submitter ⚠
- p.Pro216Gln Single submitter ⚠
- p.Pro217Arg Single submitter ⚠
- p.Pro219Arg Single submitter ⚠
- p.Pro219Ser Single submitter ⚠
- p.Pro330Leu Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Pro420Ser Single submitter ⚠
- p.Pro429Ala Single submitter ⚠
- p.Pro480Leu Single submitter ⚠
- p.Pro83Thr Single submitter ⚠
- p.Ser154Thr Single submitter ⚠
- p.Ser158Leu Single submitter ⚠
- p.Ser23Thr Single submitter ⚠
- p.Ser267Gly Single submitter ⚠
- p.Ser323Cys Single submitter ⚠
- p.Ser326Phe Single submitter ⚠
- p.Ser359Ala Single submitter ⚠
- p.Ser411Ala Single submitter ⚠
- p.Ser412Leu Single submitter ⚠
- p.Ser465Arg Single submitter ⚠
- p.Ser508Thr Single submitter ⚠
- p.Ser84Leu Single submitter ⚠
- p.Ser86Arg Single submitter ⚠
- p.Ser86Asn Single submitter ⚠
- p.Thr129Ile Single submitter ⚠
- p.Thr140Ile Single submitter ⚠
- p.Thr197Asn Single submitter ⚠
- p.Thr236Asn Single submitter ⚠
- p.Thr244Ala Single submitter ⚠
- p.Thr244Ile Single submitter ⚠
- p.Thr244Ser Single submitter ⚠
- p.Thr291Met Single submitter ⚠
- p.Thr311Ile Single submitter ⚠
- p.Thr329Ile Single submitter ⚠
- p.Thr363Ala Single submitter ⚠
- p.Thr424Ile Single submitter ⚠
- p.Trp161Cys Single submitter ⚠
- p.Trp440_Arg443del Single submitter
- p.Trp440Gly Single submitter ⚠
- p.Tyr174His Single submitter ⚠
- p.Tyr8Asn Single submitter ⚠
- p.Val168Met Single submitter ⚠
- p.Val29Ala Single submitter ⚠
- p.Val302Met Single submitter ⚠
- p.Val324Ile Single submitter ⚠
- p.Val324Leu Single submitter ⚠
- p.Val324Phe Single submitter ⚠
- p.Val438Met Single submitter ⚠
- p.Val4Met Single submitter ⚠
- c.1097+5G>A No assertion criteria CTU2-related disorder
- c.873+5G>A No assertion criteria microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
- p.Arg126Thr No assertion criteria ⚠