Total 98 pathogenic variants reported for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001282531.3(ADNP):c.1211C>A (p.Ser404Ter) SNV
Germline		 Chr20:50893503 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder No Assertion Criteria Provided
 CA163343 rs_587777524

1 SubmittersRCV000128576
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter) SNV
Germline		 Chr20:50892557 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Inborn genetic diseases
Condition: not provided
ADNP-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163346 rs_587777526

13 SubmittersRCV000128578RCV000190684RCV000483727RCV004739427
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) SNV
Germline		 Chr20:50892526 Pathogenic/Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
8 conditions
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602716 rs_886041116

22 SubmittersRCV000258940RCV000414762RCV000623455RCV000497305
NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter) SNV
Germline		 Chr20:50892557 Pathogenic Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Inborn genetic diseases
ADNP-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603669 rs_587777526

7 SubmittersRCV000404317RCV001265359RCV004975381RCV004739651
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) SNV
Germline		 Chr20:50893612 Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10653227 rs_886056775

3 SubmittersRCV000269400RCV003229829
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) SNV
Germline		 Chr20:50894041 Pathogenic/Likely pathogenic Autism, severe
intellectual deficiency
Global developmental delay
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043635 rs_1057518991

5 SubmittersRCV000414834RCV001526556RCV005252882RCV003437160
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter) SNV
Germline		 Chr20:50892501 Pathogenic Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608474 rs_779340209

4 SubmittersRCV000428470RCV000622544RCV001618684RCV003985350
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter) SNV
Germline		 Chr20:50894197 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA408977537 rs_1135401791

4 SubmittersRCV000496157RCV001008669
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) SNV
Germline		 Chr20:50892097 Conflicting classifications of pathogenicity not specified
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9908560 rs_147299402

4 SubmittersRCV000499393RCV000764249RCV001545023
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) SNV
Germline		 Chr20:50893651 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
ADNP-related disorder		 Criteria Provided
Conflicting Classifications
 CA9908790 rs_200625964

5 SubmittersRCV000597749RCV002315891RCV005027703RCV003945402
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter) SNV
Germline		 Chr20:50893377 Pathogenic Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA408973839 rs_1555810308

2 SubmittersRCV000623945RCV002506518
NM_001282531.3(ADNP):c.201G>C (p.Gln67His) SNV
Germline		 Chr20:50902017 Likely pathogenic Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Single Submitter
 CA408981383 rs_1555812161

2 SubmittersRCV000622881RCV001265428
NM_001282531.3(ADNP):c.724G>A (p.Glu242Lys) SNV
Germline		 Chr20:50893990 Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA408976434 rs_1568710507

3 SubmittersRCV004723134RCV002318033RCV005231305
NM_001282531.3(ADNP):c.356A>G (p.Lys119Arg) SNV
Germline		 Chr20:50894358 Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9908901 rs_182284347

3 SubmittersRCV001265426RCV002315418RCV002534573
NM_001282531.3(ADNP):c.733G>T (p.Glu245Ter) SNV
Germline		 Chr20:50893981 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA408976348 rs_1568710501

1 SubmittersRCV000760200
NM_001282531.3(ADNP):c.-5-1G>C SNV
Unknown		 Chr20:50904002 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA657895769 rs_1064796656

1 SubmittersRCV000990317
NM_001282531.3(ADNP):c.2150G>A (p.Arg717His) SNV
Germline		 Chr20:50892564 Conflicting classifications of pathogenicity Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA9908635 rs_756595568

2 SubmittersRCV001231654RCV003142195
NM_001282531.3(ADNP):c.280C>T (p.Arg94Cys) SNV
Germline		 Chr20:50894434 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder No Assertion Criteria Provided
 CA408979595 rs_1186714720

1 SubmittersRCV001251875
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter) SNV
Unknown		 Chr20:50891776 Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA408967460 rs_1980763449

1 SubmittersRCV001262325
NM_001282531.3(ADNP):c.2213C>A (p.Ser738Ter) SNV
Germline		 Chr20:50892501 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided		 Criteria Provided
Single Submitter
 CA408970954 rs_779340209

2 SubmittersRCV001265353RCV001664791
NM_001282531.3(ADNP):c.1033C>T (p.Gln345Ter) SNV
Germline		 Chr20:50893681 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder No Assertion Criteria Provided
 CA408974740 rs_1981068436

1 SubmittersRCV001265357
NM_001282531.3(ADNP):c.484C>T (p.Gln162Ter) SNV
Germline		 Chr20:50894230 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided		 Criteria Provided
Single Submitter
 CA408977698 rs_1981147033

2 SubmittersRCV001265358RCV004719122
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) SNV
Germline		 Chr20:50892153 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA9908573 rs_376827094

4 SubmittersRCV001566175RCV002458532RCV003136107
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys) SNV
Germline		 Chr20:50891619 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA9908449 rs_559915015

5 SubmittersRCV001708709RCV002538652RCV003136126
NM_001282531.3(ADNP):c.2189G>A (p.Arg730Gln) SNV
Germline		 Chr20:50892525 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
ADNP-related disorder		 Criteria Provided
Conflicting Classifications
 CA9908625 rs_377051194

5 SubmittersRCV001732533RCV002543902RCV003136128RCV003941114
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) SNV
Germline		 Chr20:50893174 Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Conflicting Classifications
 CA408973174 rs_2122752568

3 SubmittersRCV001771789
NM_001282531.3(ADNP):c.2454C>G (p.Tyr818Ter) SNV
Germline		 Chr20:50892260 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Multiple Submitters
No Conflicts
 CA408969425 rs_2122743080

2 SubmittersRCV001814826
NM_001282531.3(ADNP):c.2387G>A (p.Trp796Ter) SNV
Germline		 Chr20:50892327 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA408970302 rs_2122743549

1 SubmittersRCV001823314
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser) SNV
Germline		 Chr20:50894052 Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9908848 rs_747105829

3 SubmittersRCV002227699RCV003101299RCV004617013
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter) SNV
Germline		 Chr20:50892436 Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA408970802 rs_1221864735

1 SubmittersRCV002251122
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys) SNV
Germline		 Chr20:50891746 Conflicting classifications of pathogenicity See cases
Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA9908478 rs_531230573

3 SubmittersRCV002253187RCV003094135RCV005032200
NM_001282531.3(ADNP):c.2292T>G (p.Tyr764Ter) SNV
Germline		 Chr20:50892422 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA408970738 rs_2515579204

1 SubmittersRCV002289213
NM_001282531.3(ADNP):c.2815A>T (p.Ile939Phe) SNV
Germline		 Chr20:50891899 Conflicting classifications of pathogenicity Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA408967734 rs_201104498

2 SubmittersRCV002308755RCV004725223
NM_001282531.3(ADNP):c.1108C>G (p.Leu370Val) SNV
Germline		 Chr20:50893606 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA9908781 rs_749861265

3 SubmittersRCV002428659RCV003102065RCV003492768
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe) SNV
Germline		 Chr20:50892714 Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA408971569 rs_2515581500

1 SubmittersRCV002471821
NM_001282531.3(ADNP):c.103A>G (p.Ile35Val) SNV
Germline		 Chr20:50903894 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA9908960 rs_372633654

3 SubmittersRCV002958000RCV003340569RCV004784080
NM_001282531.3(ADNP):c.976C>G (p.His326Asp) SNV
Germline		 Chr20:50893738 Conflicting classifications of pathogenicity Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA408974864 rs_2515588341

2 SubmittersRCV003065931RCV004725485
NM_001282531.3(ADNP):c.613C>G (p.Leu205Val) SNV
Germline		 Chr20:50894101 Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA9908858 rs_764614303

3 SubmittersRCV003141216RCV003708729RCV005554915
NM_001282531.3(ADNP):c.2836A>G (p.Thr946Ala) SNV
Germline		 Chr20:50891878 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA9908510 rs_551485241

3 SubmittersRCV003738405RCV003239460RCV005029951
NM_001282531.3(ADNP):c.2919G>T (p.Glu973Asp) SNV
Germline		 Chr20:50891795 Conflicting classifications of pathogenicity Condition: not provided
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder		 Criteria Provided
Conflicting Classifications
 CA408967500 rs_2515574625

2 SubmittersRCV003441309RCV004723314
NM_001282531.3(ADNP):c.2468T>G (p.Leu823Trp) SNV
Germline		 Chr20:50892246 Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 CA408969395 rs_2515578225

1 SubmittersRCV003991505
NM_001282531.3(ADNP):c.326G>A (p.Cys109Tyr) SNV
Germline		 Chr20:50894388 Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter
 rs_2515592600

1 SubmittersRCV004594815
NM_001282531.3(ADNP):c.1707C>G (p.Tyr569Ter) SNV
Germline		 Chr20:50893007 Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Criteria Provided
Single Submitter

1 SubmittersRCV005603947