Total 28 pathogenic variants reported for Developmental and epileptic encephalopathy, 35 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) SNV
Germline		 Chr20:3221881 Pathogenic Developmental and epileptic encephalopathy, 35
Condition: not provided
Inosine triphosphatase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA210445 rs_200086262

4 SubmittersRCV000202318RCV000578901RCV000640526
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) SNV
Germline		 Chr20:3223409 Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 35
Inosine triphosphatase deficiency
Condition: not provided
ITPA-related disorder
Infantile epileptic dyskinetic encephalopathy		 Criteria Provided
Conflicting Classifications
 CA210447 rs_746930990

5 SubmittersRCV000202320RCV001204840RCV002277556RCV003407715RCV006456835
NM_033453.4(ITPA):c.488C>T (p.Thr163Met) SNV
Germline		 Chr20:3221917 Conflicting classifications of pathogenicity Inosine triphosphatase deficiency
Developmental and epileptic encephalopathy, 35		 Criteria Provided
Conflicting Classifications
 CA9741326 rs_758706191

2 SubmittersRCV000530658RCV000655948
NM_033453.4(ITPA):c.124+1G>A SNV
Germline		 Chr20:3213227 Pathogenic/Likely pathogenic Inosine triphosphatase deficiency
Condition: not provided
Inosine triphosphatase deficiency
Developmental and epileptic encephalopathy, 35		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9741151 rs_376142053

3 SubmittersRCV000800468RCV003144615RCV005411569
NM_033453.4(ITPA):c.124+2T>C SNV
Germline		 Chr20:3213228 Pathogenic Inosine triphosphatase deficiency
Developmental and epileptic encephalopathy, 35		 Criteria Provided
Multiple Submitters
No Conflicts
 CA408076855 rs_1408254396

3 SubmittersRCV000991064RCV001824157
NM_033453.4(ITPA):c.488+1G>A SNV
Germline		 Chr20:3221918 Conflicting classifications of pathogenicity Inosine triphosphatase deficiency
Condition: not provided
Developmental and epileptic encephalopathy, 35		 Criteria Provided
Conflicting Classifications
 CA408081041 rs_1380443187

4 SubmittersRCV000991065RCV001759680RCV006635959
NM_033453.4(ITPA):c.271T>C (p.Phe91Leu) SNV
Germline		 Chr20:3215288 Likely pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter
 CA408078761 rs_1600509558

1 SubmittersRCV000995786
NM_033453.4(ITPA):c.416G>A (p.Arg139Gln) SNV
Germline		 Chr20:3221845 Conflicting classifications of pathogenicity Inosine triphosphatase deficiency
Developmental and epileptic encephalopathy, 35
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9741312 rs_771525761

3 SubmittersRCV001217210RCV001334427RCV002561918
NM_033453.4(ITPA):c.264-1G>A SNV
Germline		 Chr20:3215280 Pathogenic/Likely pathogenic Inosine triphosphatase deficiency
Developmental and epileptic encephalopathy, 35
Ovarian serous cystadenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9741249 rs_781254071

4 SubmittersRCV001977793RCV002250794RCV005925448
NM_033453.4(ITPA):c.253G>A (p.Gly85Ser) SNV
Germline		 Chr20:3214048 Conflicting classifications of pathogenicity Inosine triphosphatase deficiency
Developmental and epileptic encephalopathy, 35
ITPA-related encephalopathy		 Criteria Provided
Conflicting Classifications
 CA408077884 rs_1343080275

3 SubmittersRCV002770931RCV004546748RCV006738371
NM_033453.4(ITPA):c.142G>T (p.Glu48Ter) SNV
Germline		 Chr20:3213336 Pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter
 CA408077096 rs_2514425313

1 SubmittersRCV003153202
NM_033453.4(ITPA):c.489-1G>T SNV
Germline		 Chr20:3223365 Likely pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter
 CA408081494 rs_2514489594

1 SubmittersRCV004442865
NM_033453.4(ITPA):c.325G>T (p.Asp109Tyr) SNV
Germline		 Chr20:3218546 Likely pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter
 rs_2067370892

1 SubmittersRCV004595188
NM_033453.4(ITPA):c.14T>A (p.Leu5Ter) SNV
Germline		 Chr20:3209565 Likely pathogenic Inosine triphosphatase deficiency
Developmental and epileptic encephalopathy, 35		 Criteria Provided
Single Submitter

1 SubmittersRCV005026912
NM_033453.4(ITPA):c.136C>T (p.Gln46Ter) SNV
Germline		 Chr20:3213330 Likely pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter

1 SubmittersRCV005255534
NM_033453.4(ITPA):c.189+1G>A SNV
Germline		 Chr20:3213384 Pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter

1 SubmittersRCV005884545
NM_033453.4(ITPA):c.484C>T (p.Gln162Ter) SNV
Germline		 Chr20:3221913 Pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter

1 SubmittersRCV006652688
NM_033453.4(ITPA):c.466C>T (p.Gln156Ter) SNV
Germline		 Chr20:3221895 Likely pathogenic Developmental and epileptic encephalopathy, 35 Criteria Provided
Single Submitter

1 SubmittersRCV006706732