Total 31 pathogenic variants reported for Partial Androgen Insensitivity Syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000044.6(AR):c.2599G>A (p.Val867Met) SNV
Germline		 ChrX:67722976 Pathogenic Androgen resistance syndrome
Hypospadias 1, X-linked
Kennedy disease
Prostate cancer
Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
AR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120683 rs_137852564

6 SubmittersRCV000010480RCV000763628RCV001381188RCV003421916
NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) SNV
Germline		 ChrX:67717595 Pathogenic Partial androgen insensitivity syndrome No Assertion Criteria Provided
 CA120695 rs_137852567

1 SubmittersRCV000010484
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) SNV
Germline		 ChrX:67686030 Pathogenic Partial androgen insensitivity syndrome
Kennedy disease
Androgen resistance syndrome
Condition: not provided
Disorder of sexual differentiation		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120703 rs_137852569

6 SubmittersRCV000010487RCV000640478RCV001269612RCV005241234
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) SNV
Germline		 ChrX:67686064 Pathogenic/Likely pathogenic Partial androgen insensitivity syndrome
Condition: not provided
Kennedy disease
Androgen resistance syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120715 rs_137852573

4 SubmittersRCV000010494RCV000382955RCV000806067
NM_000044.6(AR):c.2599G>T (p.Val867Leu) SNV
Germline		 ChrX:67722976 Pathogenic Partial androgen insensitivity syndrome No Assertion Criteria Provided
 CA120718 rs_137852564

1 SubmittersRCV000010496
NM_000044.6(AR):c.2567G>A (p.Arg856His) SNV
Germline		 ChrX:67722944 Pathogenic/Likely pathogenic Partial androgen insensitivity syndrome
Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Male infertility		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120721 rs_9332971

7 SubmittersRCV000010497RCV000582251RCV000532628RCV003982834
NM_000044.6(AR):c.2522G>A (p.Arg841His) SNV
Germline		 ChrX:67722899 Pathogenic Partial androgen insensitivity syndrome
Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120731 rs_9332969

6 SubmittersRCV000010503RCV000582333RCV000814875RCV001269861
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) SNV
Germline		 ChrX:67722898 Pathogenic Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120734 rs_137852577

5 SubmittersRCV000010504RCV000010529RCV000640474RCV001269809
NM_000044.6(AR):c.4G>A (p.Glu2Lys) SNV
Germline		 ChrX:67545150 Pathogenic Partial androgen insensitivity syndrome No Assertion Criteria Provided
 CA120767 rs_104894742

1 SubmittersRCV000010515
NM_000044.6(AR):c.1769-11T>A SNV
Germline		 ChrX:67685999 Pathogenic Partial androgen insensitivity syndrome No Assertion Criteria Provided
 CA413429085 rs_2147497386

1 SubmittersRCV000010518
NM_000044.6(AR):c.521T>G (p.Leu174Ter) SNV
Unknown		 ChrX:67545667 Pathogenic Partial androgen insensitivity syndrome No Assertion Criteria Provided
 CA120772 rs_137852590

1 SubmittersRCV000010519
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) SNV
Germline		 ChrX:67721909 Conflicting classifications of pathogenicity Partial androgen insensitivity syndrome
Condition: not provided
Kennedy disease
Androgen resistance syndrome
Prostate cancer
not specified
Male infertility		 Criteria Provided
Conflicting Classifications
 CA120774 rs_137852591

10 SubmittersRCV000010520RCV000224621RCV001519068RCV002247311RCV003234899RCV003982835
NM_000044.6(AR):c.2423T>C (p.Met808Thr) SNV
Germline		 ChrX:67721937 Likely pathogenic Partial androgen insensitivity syndrome
Kennedy disease
Androgen resistance syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120777 rs_137852592

3 SubmittersRCV000010521RCV005222678RCV003133116
NM_000044.6(AR):c.2449+5G>T SNV
Germline		 ChrX:67721968 Pathogenic Partial androgen insensitivity syndrome No Assertion Criteria Provided
 CA913185103 rs_1602278831

1 SubmittersRCV000010525
NM_000044.6(AR):c.2231G>T (p.Gly744Val) SNV
Germline		 ChrX:67717535 Pathogenic Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome		 Criteria Provided
Single Submitter
 CA120786 rs_137852600

2 SubmittersRCV000010531RCV000010532RCV001851781
NM_000044.6(AR):c.2222C>G (p.Ser741Cys) SNV
Germline		 ChrX:67717526 Pathogenic Partial androgen insensitivity syndrome No Assertion Criteria Provided
 CA120792 rs_137852601

1 SubmittersRCV000010535
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) SNV
Germline		 ChrX:67711453 Conflicting classifications of pathogenicity Partial androgen insensitivity syndrome
not specified
Condition: not provided
Castleman-Kojima disease
Male infertility
Kennedy disease
Androgen resistance syndrome
AR-related disorder		 Criteria Provided
Conflicting Classifications
 CA120795 rs_1800053

10 SubmittersRCV000010536RCV000613283RCV000995934RCV000824699RCV003982836RCV002512959RCV003924823
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) SNV
Germline		 ChrX:67546320 Conflicting classifications of pathogenicity Partial androgen insensitivity syndrome
Hypospadias 1, X-linked
Androgen resistance syndrome
Condition: not provided
not specified
Androgen resistance syndrome
Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
AR-related disorder		 Criteria Provided
Conflicting Classifications
 CA210003 rs_201934623

15 SubmittersRCV000196772RCV000627669RCV000990850RCV001269900RCV000499525RCV002221510RCV001516905RCV003927863
NM_000044.6(AR):c.2314A>C (p.Asn772His) SNV
Germline		 ChrX:67717618 Pathogenic Condition: not provided
Partial androgen insensitivity syndrome		 Criteria Provided
Single Submitter
 CA10603629 rs_886041352

2 SubmittersRCV000263998RCV001175283
NM_000044.6(AR):c.1847G>A (p.Arg616His) SNV
Germline		 ChrX:67686088 Pathogenic Condition: not provided
Kennedy disease
Androgen resistance syndrome
Partial androgen insensitivity syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10436525 rs_754201976

4 SubmittersRCV000288478RCV000532795RCV004720249
NM_000044.6(AR):c.173A>T (p.Gln58Leu) SNV
Germline		 ChrX:67545319 Conflicting classifications of pathogenicity not specified
Androgen resistance syndrome
Kennedy disease
Partial androgen insensitivity syndrome
Prostate cancer
Hypospadias 1, X-linked
Male infertility
Androgen resistance syndrome
Kennedy disease
Familial prostate cancer
Partial androgen insensitivity syndrome
Hypospadias 1, X-linked
Condition: not provided
Posterior hypospadias
Partial androgen insensitivity syndrome		 Criteria Provided
Conflicting Classifications
 CA10436236 rs_200185441

6 SubmittersRCV000455544RCV000766100RCV003983052RCV004796181RCV004696189RCV005355784
NM_000044.6(AR):c.1768+2T>C SNV
Germline		 ChrX:67643409 Pathogenic/Likely pathogenic Partial androgen insensitivity syndrome
Androgen resistance syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413422940 rs_1555982894

4 SubmittersRCV000517655RCV000583701RCV003151078
NM_000044.6(AR):c.2528T>C (p.Ile843Thr) SNV
Germline		 ChrX:67722905 Pathogenic Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
Partial androgen insensitivity syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA330772299 rs_9332970

3 SubmittersRCV000814876RCV001568311RCV004789218
NM_000044.6(AR):c.1424C>T (p.Ala475Val) SNV
Germline		 ChrX:67546570 Conflicting classifications of pathogenicity Androgen resistance syndrome
Condition: not provided
not specified
Androgen resistance syndrome
Kennedy disease
AR-related disorder
Male infertility
Partial androgen insensitivity syndrome
Androgen resistance syndrome
Prostate cancer, hereditary, X-linked 3
Hypospadias 1, X-linked
Kennedy disease		 Criteria Provided
Conflicting Classifications
 CA10436439 rs_200390780

11 SubmittersRCV000990851RCV001356855RCV001702761RCV001858727RCV003918617RCV003983811RCV005047165
NM_000044.6(AR):c.7G>A (p.Val3Met) SNV
Germline		 ChrX:67545153 Conflicting classifications of pathogenicity Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
Prostate cancer
Hypospadias 1, X-linked
Kennedy disease
Partial androgen insensitivity syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10436200 rs_778912582

3 SubmittersRCV001988640RCV002492261RCV003154053
NM_000044.6(AR):c.2056G>C (p.Val686Leu) SNV
Germline		 ChrX:67711572 Likely pathogenic Partial androgen insensitivity syndrome Criteria Provided
Single Submitter
 CA413423315 rs_2147524833

1 SubmittersRCV002273049
NM_000044.6(AR):c.2317G>A (p.Glu773Lys) SNV
Germline		 ChrX:67717621 Likely pathogenic Partial androgen insensitivity syndrome Criteria Provided
Single Submitter
 CA413424806 rs_2147531195

1 SubmittersRCV003238162
NM_000044.6(AR):c.2270A>G (p.Asn757Ser) SNV
Germline		 ChrX:67717574 Pathogenic/Likely pathogenic Condition: not provided
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
Male infertility
Androgen resistance syndrome
Partial androgen insensitivity syndrome
Prostate cancer, hereditary, X-linked 3
Kennedy disease
Hypospadias 1, X-linked		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10436608 rs_141425171

5 SubmittersRCV003314884RCV005216043RCV004587483RCV003984357RCV005051283
NM_000044.6(AR):c.2612C>G (p.Ala871Gly) SNV
Germline		 ChrX:67723690 Likely pathogenic Partial androgen insensitivity syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004764269
NM_000044.6(AR):c.610G>T (p.Glu204Ter) SNV
Germline		 ChrX:67545756 Pathogenic Hypospadias 1, X-linked
Kennedy disease
Prostate cancer, hereditary, X-linked 3
Partial androgen insensitivity syndrome
Androgen resistance syndrome		 Criteria Provided
Single Submitter

1 SubmittersRCV005041888