Total 62 pathogenic variants reported for 8q24.3 microdeletion syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) SNV
Germline		 Chr8:143818378 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA145503 rs_398123001

2 SubmittersRCV000077784
NM_078480.3(PUF60):c.485G>A (p.Trp162Ter) SNV
Germline		 Chr8:143818398 Pathogenic Condition: not provided
8q24.3 microdeletion syndrome		 Criteria Provided
Single Submitter
 CA10603090 rs_886041995

2 SubmittersRCV000291225RCV005429011
NM_078480.3(PUF60):c.1381-2A>G SNV
Germline		 Chr8:143816821 Likely pathogenic 8q24.3 microdeletion syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043720 rs_1057518681

3 SubmittersRCV000415139RCV000488439
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) SNV
Germline		 Chr8:143818255 Pathogenic/Likely pathogenic Condition: not provided
8q24.3 microdeletion syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372492650 rs_1085307135

4 SubmittersRCV000488436RCV000735802RCV000622780
NM_078480.3(PUF60):c.389G>A (p.Arg130His) SNV
Germline		 Chr8:143818494 Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome
CHARGE syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372493739 rs_1554643584

4 SubmittersRCV000578200RCV001034553RCV001799688
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter) SNV
Germline		 Chr8:143817966 Pathogenic/Likely pathogenic Condition: not provided
8q24.3 microdeletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372490480 rs_1554643099

2 SubmittersRCV000578598RCV001783079
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter) SNV
Germline		 Chr8:143816981 Pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372486784 rs_1554642022

1 SubmittersRCV000656527
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) SNV
Germline		 Chr8:143816948 Pathogenic 8q24.3 microdeletion syndrome
See cases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372486558 rs_1563819620

5 SubmittersRCV000735799RCV003156132RCV005056497
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) SNV
Germline		 Chr8:143817699 Pathogenic 8q24.3 microdeletion syndrome No Assertion Criteria Provided
 CA372489465 rs_1563823411

1 SubmittersRCV000735800
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) SNV
Germline		 Chr8:143816752 Pathogenic 8q24.3 microdeletion syndrome No Assertion Criteria Provided
 CA372485735 rs_1563818514

1 SubmittersRCV000735801
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) SNV
Germline		 Chr8:143817993 Conflicting classifications of pathogenicity 8q24.3 microdeletion syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA372490644 rs_1816558436

2 SubmittersRCV001262514RCV003886498
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) SNV
Germline		 Chr8:143816729 Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372485606 rs_1816336903

4 SubmittersRCV001267730RCV002285468
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter) SNV
Germline		 Chr8:143818051 Pathogenic 8q24.3 microdeletion syndrome
Intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372490978 rs_1816565787

3 SubmittersRCV001336869RCV005626402
NM_078480.3(PUF60):c.24+1G>T SNV
Germline		 Chr8:143829279 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372451822 rs_1064795388

1 SubmittersRCV001783649
NM_078480.3(PUF60):c.436C>T (p.Arg146Cys) SNV
Germline		 Chr8:143818447 Conflicting classifications of pathogenicity 8q24.3 microdeletion syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA090946 rs_2130257405

2 SubmittersRCV001807872RCV002074225
NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg) SNV
Germline		 Chr8:143816741 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372485682 rs_2130205866

1 SubmittersRCV001810517
NM_078480.3(PUF60):c.1550T>G (p.Val517Gly) SNV
Germline		 Chr8:143816650 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372485158 rs_2130202692

1 SubmittersRCV002071016
NM_078480.3(PUF60):c.274C>T (p.Gln92Ter) SNV
Germline		 Chr8:143821620 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372495877 rs_1210239952

1 SubmittersRCV002244260
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter) SNV
Germline		 Chr8:143821623 Pathogenic 8q24.3 microdeletion syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372495900 rs_1464053660

2 SubmittersRCV002250279RCV005626616
NM_078480.3(PUF60):c.208-1G>A SNV
Germline		 Chr8:143821687 Pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372496339 rs_1229324113

1 SubmittersRCV002250280
NM_078480.3(PUF60):c.510+1G>A SNV
Germline		 Chr8:143818372 Pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372492861 rs_1816618311

1 SubmittersRCV002273277
NM_078480.3(PUF60):c.389G>C (p.Arg130Pro) SNV
Unknown		 Chr8:143818494 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372493736 rs_1554643584

1 SubmittersRCV002274454
NM_078480.3(PUF60):c.841C>T (p.Gln281Ter) SNV
Germline		 Chr8:143817759 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372489766 rs_2538857659

1 SubmittersRCV003142480
NM_078480.3(PUF60):c.11C>G (p.Ala4Gly) SNV
Germline		 Chr8:143829293 Conflicting classifications of pathogenicity 8q24.3 microdeletion syndrome
Inborn genetic diseases
PUF60-related disorder		 Criteria Provided
Conflicting Classifications
 CA4920895 rs_200179503

3 SubmittersRCV003130362RCV003250852RCV003973770
NM_078480.3(PUF60):c.1625T>A (p.Val542Glu) SNV
Germline		 Chr8:143816575 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372484668 rs_2538841647

1 SubmittersRCV003883999
NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter) SNV
Germline		 Chr8:143817778 Pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372489861 rs_373613651

1 SubmittersRCV003883267
NM_078480.3(PUF60):c.207+1G>A SNV
Germline		 Chr8:143821817 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372496391 rs_2538896058

1 SubmittersRCV003986000
NM_078480.3(PUF60):c.896T>A (p.Val299Glu) SNV
Germline		 Chr8:143817704 Likely pathogenic 8q24.3 microdeletion syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372489490 rs_2538857317

2 SubmittersRCV003990065RCV003992826
NM_078480.3(PUF60):c.1006C>T (p.Gln336Ter) SNV
Germline		 Chr8:143817594 Pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter
 CA372488973 rs_2538855786

1 SubmittersRCV004018022
NM_078480.3(PUF60):c.367C>T (p.Arg123Trp) SNV
Germline		 Chr8:143818516 Likely pathogenic Condition: not provided
8q24.3 microdeletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004721888RCV004787155
NM_078480.3(PUF60):c.277C>T (p.Gln93Ter) SNV
Germline		 Chr8:143821617 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004771564
NM_078480.3(PUF60):c.207+1G>C SNV
Germline		 Chr8:143821817 Likely pathogenic 8q24.3 microdeletion syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004942962
NM_078480.3(PUF60):c.510+2T>A SNV
Germline		 Chr8:143818371 Pathogenic 8q24.3 microdeletion syndrome No Assertion Criteria Provided

1 SubmittersRCV005622860