A total 61 pathogenic variants reported in gene armadillo repeat containing 9 (ARMC9)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001352754.2(ARMC9):c.51+5G>T SNV
Germline		 Chr2:231206294 Conflicting classifications of pathogenicity ARMC9-related Joubert syndrome
Joubert syndrome
Joubert syndrome 30		 Criteria Provided
Conflicting Classifications
 CA431718687 rs_1114167447

6 SubmittersRCV000491267RCV001034536RCV002227476
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) SNV
Germline		 Chr2:231214858 Conflicting classifications of pathogenicity ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2159877 rs_750247691

5 SubmittersRCV000491981RCV000515488RCV001034532RCV001362306
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) SNV
Germline		 Chr2:231214912 Pathogenic ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA66816524 rs_372770167

4 SubmittersRCV000490944RCV000515482RCV001034534RCV003558397
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) SNV
Germline		 Chr2:231262306 Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome
Condition: not provided
Dandy-Walker syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2160165 rs_759799287

8 SubmittersRCV000491717RCV000515505RCV001034537RCV001038181RCV001257947
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) SNV
Germline		 Chr2:231276637 Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome		 No Assertion Criteria Provided
 CA2160301 rs_753432312

3 SubmittersRCV000490882RCV000515503RCV001034533
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) SNV
Germline		 Chr2:231276775 Likely pathogenic ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome
Dandy-Walker syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA2160329 rs_780265931

4 SubmittersRCV000491687RCV000515496RCV001034540RCV001257948RCV002527047
NM_001352754.2(ARMC9):c.1474+1G>C SNV
Germline		 Chr2:231276776 Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome		 No Assertion Criteria Provided
 CA350955992 rs_1114167448

3 SubmittersRCV000491387RCV000515484RCV001034539
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) SNV
Germline		 Chr2:231282066 Pathogenic/Likely pathogenic ARMC9-related Joubert syndrome
Joubert syndrome 30
Joubert syndrome		 No Assertion Criteria Provided
 CA350957057 rs_1114167449

3 SubmittersRCV000490913RCV000515485RCV001034541
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=) SNV
Germline		 Chr2:231240041 Pathogenic/Likely pathogenic Joubert syndrome 30
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2160077 rs_766572502

5 SubmittersRCV000625743RCV001234516
NM_001352754.2(ARMC9):c.636G>C (p.Gln212His) SNV
Germline		 Chr2:231235237 Conflicting classifications of pathogenicity Condition: not provided
Corpus callosum, agenesis of
Diabetes mellitus		 Criteria Provided
Conflicting Classifications
 CA2160013 rs_201590882

2 SubmittersRCV000915282RCV001007925
NM_001352754.2(ARMC9):c.1939G>T (p.Asp647Tyr) SNV
Germline		 Chr2:231345035 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2160545 rs_138555701

2 SubmittersRCV001045799RCV004671190
NM_001352754.2(ARMC9):c.2432C>T (p.Pro811Leu) SNV
Germline		 Chr2:231370123 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
 CA66863875 rs_564939247

2 SubmittersRCV001039644
NM_001352754.2(ARMC9):c.367G>A (p.Glu123Lys) SNV
Germline		 Chr2:231216656 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA2159926 rs_201901213

3 SubmittersRCV001067529RCV002554524RCV005436979
NM_001352754.2(ARMC9):c.1165C>T (p.Gln389Ter) SNV
Germline		 Chr2:231271027 Pathogenic Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Single Submitter
 CA350953698 rs_1189780573

2 SubmittersRCV001225464RCV005909068
NM_001352754.2(ARMC9):c.178-1G>A SNV
Germline		 Chr2:231214830 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2159868 rs_781417301

1 SubmittersRCV001234359
NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter) SNV
Germline		 Chr2:231208175 Pathogenic Joubert syndrome 30 Criteria Provided
Single Submitter
 CA350944300 rs_1330612935

1 SubmittersRCV001336697
NM_001352754.2(ARMC9):c.1964C>T (p.Thr655Ile) SNV
Germline		 Chr2:231345060 Conflicting classifications of pathogenicity Condition: not provided
ARMC9-related disorder		 Criteria Provided
Conflicting Classifications
 CA2160555 rs_202164814

4 SubmittersRCV001344992RCV003963232
NM_001352754.2(ARMC9):c.178-2A>G SNV
Germline		 Chr2:231214829 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350945803 rs_1248147660

1 SubmittersRCV001377499
NM_001352754.2(ARMC9):c.178-2A>C SNV
Germline		 Chr2:231214829 Likely pathogenic Joubert syndrome 30
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350945801 rs_1248147660

2 SubmittersRCV001785962RCV002541173
NM_001352754.2(ARMC9):c.851A>G (p.His284Arg) SNV
Germline		 Chr2:231240013 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2160070 rs_769363225

2 SubmittersRCV002043596RCV004956176
NM_001352754.2(ARMC9):c.1119+1G>A SNV
Germline		 Chr2:231262399 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350956456 rs_1190417376

1 SubmittersRCV001959285
NM_001352754.2(ARMC9):c.879+1G>A SNV
Germline		 Chr2:231240042 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350952579 rs_1574742486

1 SubmittersRCV001984286
NM_001352754.2(ARMC9):c.2160G>A (p.Trp720Ter) SNV
Germline		 Chr2:231360782 Conflicting classifications of pathogenicity Condition: not provided
Joubert syndrome 30		 Criteria Provided
Conflicting Classifications
 CA350958075 rs_2045539003

2 SubmittersRCV002033811RCV005361904
NM_001352754.2(ARMC9):c.895C>T (p.Arg299Ter) SNV
Germline		 Chr2:231256601 Pathogenic Condition: not provided
Joubert syndrome 30		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2160109 rs_754385274

2 SubmittersRCV002002458RCV005225550
NM_001352754.2(ARMC9):c.598-2A>G SNV
Germline		 Chr2:231226772 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2159992 rs_375762122

1 SubmittersRCV002024534
NM_001352754.2(ARMC9):c.2132-2A>G SNV
Germline		 Chr2:231360752 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350958007 rs_1220581324

1 SubmittersRCV002013851
NM_001352754.2(ARMC9):c.2261+1G>A SNV
Germline		 Chr2:231360884 Conflicting classifications of pathogenicity Joubert syndrome 30
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2160591 rs_752980410

2 SubmittersRCV002308474RCV003099162
NM_001352754.2(ARMC9):c.1773+1G>A SNV
Germline		 Chr2:231296254 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2160472 rs_201514487

1 SubmittersRCV002581425
NM_001352754.2(ARMC9):c.348+1G>A SNV
Germline		 Chr2:231215002 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2159902 rs_757763630

1 SubmittersRCV002598447
NM_001352754.2(ARMC9):c.1434C>G (p.Tyr478Ter) SNV
Germline		 Chr2:231276735 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350955814 rs_2469792629

1 SubmittersRCV002861948
NM_001352754.2(ARMC9):c.1026+2T>C SNV
Germline		 Chr2:231259104 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350955552 rs_2469737879

1 SubmittersRCV002857997
NM_001352754.2(ARMC9):c.1027-1G>A SNV
Germline		 Chr2:231262305 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350956115 rs_2469747764

1 SubmittersRCV003036380
NM_001352754.2(ARMC9):c.1717+1G>A SNV
Germline		 Chr2:231291444 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA350957552 rs_2040982837

1 SubmittersRCV003695859
NM_001352754.2(ARMC9):c.1718-1G>A SNV
Germline		 Chr2:231296197 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA2160463 rs_756655815

1 SubmittersRCV003834015
NM_001352754.2(ARMC9):c.780+1G>A SNV
Germline		 Chr2:231235382 Likely pathogenic Joubert syndrome 30 Criteria Provided
Single Submitter

1 SubmittersRCV004797013
NM_001352754.2(ARMC9):c.1551+1G>A SNV
Germline		 Chr2:231278459 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005067828
NM_001352754.2(ARMC9):c.1246C>T (p.Gln416Ter) SNV
Germline		 Chr2:231272990 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005195997
NM_001352754.2(ARMC9):c.1878+1G>A SNV
Germline		 Chr2:231331898 Pathogenic Joubert syndrome 30 Criteria Provided
Single Submitter

1 SubmittersRCV005884514
NM_001352754.2(ARMC9):c.51+2T>C SNV
Germline		 Chr2:231206291 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006512852
NM_001352754.2(ARMC9):c.1660G>T (p.Glu554Ter) SNV
Germline		 Chr2:231291386 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006497959
NM_001352754.2(ARMC9):c.1552-1G>T SNV
Germline		 Chr2:231282058 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006593887
NM_001352754.2(ARMC9):c.1897A>T (p.Lys633Ter) SNV
Germline		 Chr2:231344993 Likely pathogenic Joubert syndrome 30 Criteria Provided
Single Submitter

1 SubmittersRCV006695985