Total 117 pathogenic variants reported for AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001371928.1(AHDC1):c.1759C>T (p.Arg587Ter) SNV
Germline		 Chr1:27550357 Pathogenic Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602787 rs_886041620

3 SubmittersRCV000326515RCV001563687
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter) SNV
Germline		 Chr1:27549208 Pathogenic Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Single Submitter
 CA10602795 rs_886041781

3 SubmittersRCV000394703RCV001563695
NM_001371928.1(AHDC1):c.607G>C (p.Glu203Gln) SNV
Germline		 Chr1:27551509 Conflicting classifications of pathogenicity Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA16603694 rs_1032556769

2 SubmittersRCV000436730RCV004594059
NM_001371928.1(AHDC1):c.3814C>T (p.Arg1272Ter) SNV
Germline		 Chr1:27548302 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA339225111 rs_1135401761

2 SubmittersRCV000496162
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) SNV
Germline		 Chr1:27550054 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided
Intellectual disability		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339232769 rs_1165205177

9 SubmittersRCV000505191RCV002524413RCV005625650
NM_001371928.1(AHDC1):c.979C>T (p.Gln327Ter) SNV
Germline		 Chr1:27551137 Pathogenic Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Single Submitter
 CA339235621 rs_1553159753

2 SubmittersRCV000519432RCV001563684
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter) SNV
Germline		 Chr1:27550597 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339233907 rs_1553159383

1 SubmittersRCV000578263
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter) SNV
Germline		 Chr1:27549343 Pathogenic/Likely pathogenic Abdominal obesity-metabolic syndrome 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA715698 rs_777736953

7 SubmittersRCV000590880RCV001331484RCV001008670
NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter) SNV
Germline		 Chr1:27548912 Pathogenic Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Single Submitter
 CA339227905 rs_1036650716

2 SubmittersRCV000658113RCV001563697
NM_001371928.1(AHDC1):c.3497C>G (p.Ser1166Ter) SNV
Germline		 Chr1:27548619 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome No Assertion Criteria Provided
 CA339226291 rs_1553158393

1 SubmittersRCV000677394
NM_001371928.1(AHDC1):c.3466C>T (p.Gln1156Ter) SNV
Germline		 Chr1:27548650 Pathogenic Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Single Submitter
 CA339226430 rs_1557658942

2 SubmittersRCV000760606RCV001563698
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) SNV
Germline		 Chr1:27551122 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339235588 rs_1571242220

3 SubmittersRCV000984972RCV004768758
NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter) SNV
Germline		 Chr1:27548493 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339225743 rs_1571229515

1 SubmittersRCV000995693
NM_001371928.1(AHDC1):c.803C>T (p.Ser268Leu) SNV
Germline		 Chr1:27551313 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA716080 rs_751818701

3 SubmittersRCV001004873RCV002551716RCV002551717
NM_001371928.1(AHDC1):c.2365C>T (p.Arg789Ter) SNV
Germline		 Chr1:27549751 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339231899 rs_1571235473

2 SubmittersRCV001027686RCV001558251
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter) SNV
Germline		 Chr1:27549928 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339232519 rs_2019433712

3 SubmittersRCV001261553RCV002541580
NM_001371928.1(AHDC1):c.3989C>A (p.Ser1330Ter) SNV
Germline		 Chr1:27548127 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339224288 rs_199659346

2 SubmittersRCV001563701
NM_001371928.1(AHDC1):c.3773C>G (p.Ser1258Ter) SNV
Germline		 Chr1:27548343 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA339225218 rs_2148265222

2 SubmittersRCV001563699RCV002292623
NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter) SNV
Germline		 Chr1:27549184 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome No Assertion Criteria Provided
 CA339229031 rs_2148272898

1 SubmittersRCV001563696
NM_001371928.1(AHDC1):c.2644C>T (p.Gln882Ter) SNV
Germline		 Chr1:27549472 Pathogenic Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Single Submitter
 CA339230100 rs_1297310572

2 SubmittersRCV005235557RCV001563692
NM_001371928.1(AHDC1):c.2473C>T (p.Gln825Ter) SNV
Germline		 Chr1:27549643 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome No Assertion Criteria Provided
 CA339230456 rs_2148277199

1 SubmittersRCV001563690
NM_001371928.1(AHDC1):c.784C>T (p.Gln262Ter) SNV
Germline		 Chr1:27551332 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome No Assertion Criteria Provided
 CA339236154 rs_2148292413

1 SubmittersRCV001563683
NM_001371928.1(AHDC1):c.85C>A (p.Pro29Thr) SNV
Germline		 Chr1:27552031 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA19879775 rs_947884627

4 SubmittersRCV001332686RCV001557722RCV004035746
NM_001371928.1(AHDC1):c.787G>A (p.Ala263Thr) SNV
Germline		 Chr1:27551329 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA716085 rs_140199241

3 SubmittersRCV001335561RCV001586137
NM_001371928.1(AHDC1):c.218G>A (p.Arg73His) SNV
Germline		 Chr1:27551898 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA716201 rs_745907116

4 SubmittersRCV001335558RCV001548001RCV003169566
NM_001371928.1(AHDC1):c.4583C>T (p.Pro1528Leu) SNV
Germline		 Chr1:27547533 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA715330 rs_761729007

3 SubmittersRCV001808968RCV002541477RCV004040930
NM_001371928.1(AHDC1):c.3898C>T (p.Gln1300Ter) SNV
Germline		 Chr1:27548218 Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339224765 rs_2148263628

1 SubmittersRCV002052237
NM_001371928.1(AHDC1):c.1537G>A (p.Val513Met) SNV
Germline		 Chr1:27550579 Conflicting classifications of pathogenicity Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
AHDC1-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA715927 rs_772405848

5 SubmittersRCV002175025RCV003146507RCV004752142RCV004976217
NM_001371928.1(AHDC1):c.3656G>A (p.Trp1219Ter) SNV
Germline		 Chr1:27548460 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339225593 rs_2148266336

1 SubmittersRCV002211053
NM_001371928.1(AHDC1):c.3025C>G (p.Pro1009Ala) SNV
Germline		 Chr1:27549091 Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339228595 rs_2521899841

1 SubmittersRCV002465460
NM_001371928.1(AHDC1):c.2132G>A (p.Gly711Glu) SNV
Germline		 Chr1:27549984 Conflicting classifications of pathogenicity Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA19876688 rs_908409288

3 SubmittersRCV003076052RCV003138506RCV005567398
NM_001371928.1(AHDC1):c.4718C>T (p.Ala1573Val) SNV
Germline		 Chr1:27547398 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA715292 rs_371087154

3 SubmittersRCV002581699RCV003294519RCV004771531
NM_001371928.1(AHDC1):c.3544T>G (p.Phe1182Val) SNV
Germline		 Chr1:27548572 Conflicting classifications of pathogenicity Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA715541 rs_201980874

3 SubmittersRCV002605998RCV003138529RCV005834435
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu) SNV
Germline		 Chr1:27547767 Conflicting classifications of pathogenicity Inborn genetic diseases
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA715378 rs_377174668

3 SubmittersRCV002897713RCV003140184
NM_001371928.1(AHDC1):c.58G>A (p.Asp20Asn) SNV
Germline		 Chr1:27552058 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA716226 rs_747136174

2 SubmittersRCV003141268RCV003274343
NM_001371928.1(AHDC1):c.574C>T (p.Arg192Trp) SNV
Germline		 Chr1:27551542 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA716130 rs_139975681

2 SubmittersRCV003141271RCV006307338
NM_001371928.1(AHDC1):c.461G>A (p.Arg154His) SNV
Germline		 Chr1:27551655 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA716153 rs_778464882

2 SubmittersRCV003141272RCV003778821
NM_001371928.1(AHDC1):c.3376C>T (p.Gln1126Ter) SNV
Germline		 Chr1:27548740 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339227084 rs_2521871511

1 SubmittersRCV003348537
NM_001371928.1(AHDC1):c.1172A>G (p.Lys391Arg) SNV
Germline		 Chr1:27550944 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA716003 rs_778160773

2 SubmittersRCV003493213RCV005100322
NM_001371928.1(AHDC1):c.640C>T (p.His214Tyr) SNV
Germline		 Chr1:27551476 Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA716114 rs_770483453

2 SubmittersRCV003493214RCV005100323
NM_001371928.1(AHDC1):c.3254C>T (p.Ala1085Val) SNV
Germline		 Chr1:27548862 Conflicting classifications of pathogenicity Condition: not provided
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome		 Criteria Provided
Conflicting Classifications
 CA339227682 rs_2521881333

2 SubmittersRCV003714323RCV005407209
NM_001371928.1(AHDC1):c.2968C>T (p.Gln990Ter) SNV
Germline		 Chr1:27549148 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA339228869 rs_2521902609

2 SubmittersRCV003883326
NM_001371928.1(AHDC1):c.1642G>A (p.Gly548Ser) SNV
Germline		 Chr1:27550474 Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome No Assertion Criteria Provided
 CA339233649 rs_2522000853

1 SubmittersRCV003989442
NM_001371928.1(AHDC1):c.4404C>A (p.Tyr1468Ter) SNV
Germline		 Chr1:27547712 Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter
 CA339222213 rs_1321892195

1 SubmittersRCV003991514
NM_001371928.1(AHDC1):c.3451C>T (p.Gln1151Ter) SNV
Germline		 Chr1:27548665 Likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004699159
NM_001371928.1(AHDC1):c.4012C>T (p.Arg1338Ter) SNV
Germline		 Chr1:27548104 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006257654
NM_001371928.1(AHDC1):c.1942C>T (p.Gln648Ter) SNV
Germline		 Chr1:27550174 Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006634269