Total 79 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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163346 rs_587777526

12 SubmittersRCV000128578RCV000190684RCV000483727
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
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602716 rs_886041116

19 SubmittersRCV000258940RCV000414762RCV000497305RCV000623455
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603669 rs_587777526

5 SubmittersRCV000404317RCV001265359
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.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

3 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.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.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
 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

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
 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
 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
 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
 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
 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
 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 No Assertion Criteria Provided
 rs_1981147033

1 SubmittersRCV001265358
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
 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
 rs_559915015

4 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
 rs_377051194

5 SubmittersRCV001732533RCV002543902RCV003136128RCV003941114
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
 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
 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		 Criteria Provided
Conflicting Classifications
 rs_747105829

2 SubmittersRCV002227699RCV003101299
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
 rs_1221864735

1 SubmittersRCV002251122
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

1 SubmittersRCV002289213
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

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

1 SubmittersRCV002471821
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

1 SubmittersRCV003991505