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.2323C>T (p.Arg775Cys)	SNV Germline	ChrX:67721837	Pathogenic	Androgen resistance syndrome Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts	CA120701	rs_137852562	6 SubmittersRCV000010478 RCV001818149 RCV001056795
NM_000044.6(AR):c.2599G>A (p.Val867Met)	SNV Germline	ChrX:67722976	Pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease Partial androgen insensitivity syndrome Malignant tumor of prostate Hypospadias 1, X-linked Androgen resistance syndrome Kennedy disease AR-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA120683	rs_137852564	6 SubmittersRCV000010480 RCV000763628 RCV001381188 RCV003421916
NM_000044.6(AR):c.2391G>A (p.Trp797Ter)	SNV Germline	ChrX:67721905	Pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter	CA120686	rs_137852565	2 SubmittersRCV000010481 RCV000698414
NM_000044.6(AR):c.1789G>A (p.Ala597Thr)	SNV Germline	ChrX:67686030	Pathogenic	Partial androgen insensitivity syndrome Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA120703	rs_137852569	5 SubmittersRCV000010487 RCV000640478 RCV001269612
NM_000044.6(AR):c.2191G>A (p.Val731Met)	SNV Germline/somatic	ChrX:67717495	Conflicting classifications of pathogenicity	Prostate cancer, somatic Malignant tumor of prostate Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications	CA120709	rs_137852571	3 SubmittersRCV000010491 RCV002247310 RCV003764544
NM_000044.6(AR):c.2324G>A (p.Arg775His)	SNV Germline	ChrX:67721838	Pathogenic	Androgen resistance syndrome Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts	CA120712	rs_137852572	4 SubmittersRCV000010493 RCV001781214 RCV001384255
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)	SNV Germline	ChrX:67686064	Pathogenic/Likely pathogenic	Partial androgen insensitivity syndrome Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts	CA120715	rs_137852573	4 SubmittersRCV000010494 RCV000382955 RCV000806067
NM_000044.6(AR):c.2567G>A (p.Arg856His)	SNV Germline	ChrX:67722944	Pathogenic/Likely pathogenic	Partial androgen insensitivity syndrome Androgen resistance syndrome Kennedy disease Androgen resistance syndrome Male infertility	Criteria Provided Multiple Submitters No Conflicts	CA120721	rs_9332971	7 SubmittersRCV000010497 RCV000582251 RCV000532628 RCV003982834
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 SubmittersRCV000010503 RCV000582333 RCV000814875 RCV001269861
NM_000044.6(AR):c.2521C>T (p.Arg841Cys)	SNV Germline	ChrX:67722898	Pathogenic	Partial androgen insensitivity syndrome Androgen resistance syndrome Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA120734	rs_137852577	5 SubmittersRCV000010504 RCV000010529 RCV000640474 RCV001269809
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 Malignant tumor of prostate not specified Male infertility	Criteria Provided Conflicting Classifications	CA120774	rs_137852591	8 SubmittersRCV000010520 RCV000224621 RCV001519068 RCV002247311 RCV003234899 RCV003982835
NM_000044.6(AR):c.2180G>T (p.Arg727Leu)	SNV Germline	ChrX:67717484	Conflicting classifications of pathogenicity	Prostate cancer susceptibility Malignant tumor of prostate Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications	CA120780	rs_137852593	3 SubmittersRCV000010523 RCV002247312 RCV003764545
NM_000044.6(AR):c.2667C>T (p.Ser889=)	SNV Germline	ChrX:67723745	Pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA254897	rs_137852594	5 SubmittersRCV000010524 RCV001059742 RCV001785450
NM_000044.6(AR):c.2231G>T (p.Gly744Val)	SNV Germline	ChrX:67717535	Pathogenic	Partial androgen insensitivity syndrome Androgen resistance syndrome Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter	CA120786	rs_137852600	2 SubmittersRCV000010531 RCV000010532 RCV001851781
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 Androgen resistance syndrome Kennedy disease AR-related disorder Male infertility	Criteria Provided Conflicting Classifications	CA120795	rs_1800053	10 SubmittersRCV000010536 RCV000613283 RCV000995934 RCV000824699 RCV002512959 RCV003924823 RCV003982836
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)	SNV Germline	ChrX:67546320	Conflicting classifications of pathogenicity	Partial androgen insensitivity syndrome not specified Hypospadias 1, X-linked Androgen resistance syndrome Condition: not provided Androgen resistance syndrome Kennedy disease Partial androgen insensitivity syndrome Androgen resistance syndrome AR-related disorder	Criteria Provided Conflicting Classifications	CA210003	rs_201934623	15 SubmittersRCV000196772 RCV000499525 RCV000627669 RCV000990850 RCV001269900 RCV001516905 RCV002221510 RCV003927863
NM_000044.6(AR):c.2257C>T (p.Arg753Ter)	SNV Germline	ChrX:67717561	Pathogenic	Condition: not provided Androgen resistance syndrome Kennedy disease Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588795	rs_886039558	4 SubmittersRCV000255883 RCV000640477 RCV001848042
NM_000044.6(AR):c.1847G>A (p.Arg616His)	SNV Germline	ChrX:67686088	Pathogenic	Androgen resistance syndrome Kennedy disease Condition: not provided Partial androgen insensitivity syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10436525	rs_754201976	4 SubmittersRCV000532795 RCV000288478 RCV004720249
NM_000044.6(AR):c.2566C>T (p.Arg856Cys)	SNV Germline	ChrX:67722943	Pathogenic	Androgen resistance syndrome Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts	CA10603683	rs_886041132	4 SubmittersRCV000584628 RCV000294192 RCV003765576
NM_000044.6(AR):c.2668G>A (p.Val890Met)	SNV Germline	ChrX:67723746	Pathogenic	Condition: not provided Androgen resistance syndrome Kennedy disease Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603685	rs_886041133	5 SubmittersRCV000280545 RCV000582566 RCV000696602
NM_000044.6(AR):c.1822C>T (p.Arg608Ter)	SNV Germline	ChrX:67686063	Pathogenic	Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts	CA10603734	rs_886041128	5 SubmittersRCV000272791 RCV001859531
NM_000044.6(AR):c.2659A>G (p.Met887Val)	SNV Germline	ChrX:67723737	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Androgen resistance syndrome Kennedy disease not specified	Criteria Provided Conflicting Classifications	CA10436708	rs_755226547	4 SubmittersRCV000399756 RCV000623126 RCV001518328 RCV003330619
NM_000044.6(AR):c.173A>T (p.Gln58Leu)	SNV Germline	ChrX:67545319	Conflicting classifications of pathogenicity	not specified Partial androgen insensitivity syndrome Androgen resistance syndrome Kennedy disease Malignant tumor of prostate Hypospadias 1, X-linked Male infertility Condition: not provided Partial androgen insensitivity syndrome Androgen resistance syndrome Kennedy disease Familial prostate cancer Hypospadias 1, X-linked	Criteria Provided Conflicting Classifications	CA10436236	rs_200185441	5 SubmittersRCV000455544 RCV000766100 RCV003983052 RCV004696189 RCV004796181
NM_000044.6(AR):c.2420G>A (p.Cys807Tyr)	SNV Germline	ChrX:67721934	Conflicting classifications of pathogenicity	Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications	CA16621466	rs_1064793480	2 SubmittersRCV000482241 RCV001056954
NM_000044.6(AR):c.2248A>G (p.Met750Val)	SNV Germline	ChrX:67717552	Pathogenic	Condition: not provided Kennedy disease Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts	CA413424646	rs_1085307685	2 SubmittersRCV000488944 RCV003766746
NM_000044.6(AR):c.1139C>G (p.Pro380Arg)	SNV Germline	ChrX:67546285	Conflicting classifications of pathogenicity	not specified Androgen resistance syndrome Kennedy disease Condition: not provided AR-related disorder	Criteria Provided Conflicting Classifications	CA10436383	rs_200510049	4 SubmittersRCV000502913 RCV002060099 RCV001865599 RCV003932816
NM_000044.6(AR):c.292C>T (p.Gln98Ter)	SNV Germline	ChrX:67545438	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter	CA413424226	rs_1555969553	1 SubmittersRCV000529989
NM_000044.6(AR):c.2296G>A (p.Ala766Thr)	SNV Germline	ChrX:67717600	Pathogenic	Androgen resistance syndrome Kennedy disease Androgen resistance syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA413424759	rs_1555996863	5 SubmittersRCV000546202 RCV000791383 RCV001270001
NM_000044.6(AR):c.2698A>T (p.Ile900Phe)	SNV Germline	ChrX:67723776	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter	CA413428361	rs_1555998108	1 SubmittersRCV000554118
NM_000044.6(AR):c.268C>T (p.Gln90Ter)	SNV Germline	ChrX:67545414	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter	CA413424176	rs_1555969545	1 SubmittersRCV001384434
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr)	SNV Germline	ChrX:67686046	Likely pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter	CA413429210	rs_1555990470	1 SubmittersRCV000554482
NM_000044.6(AR):c.1850T>C (p.Leu617Pro)	SNV Germline	ChrX:67686091	Likely pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter	CA413429312	rs_1555990488	1 SubmittersRCV001377727
NM_000044.6(AR):c.2176T>C (p.Phe726Leu)	SNV Germline	ChrX:67717480	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter	CA413424259	rs_1555996810	1 SubmittersRCV000535980
NM_000044.6(AR):c.2359C>T (p.Arg787Ter)	SNV Germline	ChrX:67721873	Pathogenic	Kennedy disease Androgen resistance syndrome Condition: not provided Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts	CA413426582	rs_1555997580	4 SubmittersRCV000534959 RCV001821511 RCV004719853
NM_000044.6(AR):c.2495G>A (p.Arg832Gln)	SNV Germline	ChrX:67722872	Pathogenic	Kennedy disease Androgen resistance syndrome Condition: not provided Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts	CA413427711	rs_1386577803	4 SubmittersRCV000528841 RCV001200502 RCV002272280
NM_000044.6(AR):c.321C>A (p.Tyr107Ter)	SNV Germline	ChrX:67545467	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter	CA413424319	rs_1481151440	1 SubmittersRCV001381488
NM_000044.6(AR):c.1443C>G (p.Tyr481Ter)	SNV Germline	ChrX:67546589	Pathogenic	Androgen resistance syndrome Kennedy disease Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts	CA413427364	rs_766161615	2 SubmittersRCV000543473 RCV001387509
NM_000044.6(AR):c.2103G>T (p.Leu701Phe)	SNV Germline	ChrX:67711619	Likely pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter	CA413423421	rs_1555995848	1 SubmittersRCV001376911
NM_000044.6(AR):c.475G>A (p.Ala159Thr)	SNV Germline	ChrX:67545621	Conflicting classifications of pathogenicity	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease not specified AR-related disorder Male infertility	Criteria Provided Conflicting Classifications	CA10436283	rs_370215797	5 SubmittersRCV000581733 RCV003767317 RCV004586808 RCV004754481 RCV003983133
NM_000044.6(AR):c.2086G>A (p.Asp696Asn)	SNV Germline	ChrX:67711602	Pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA413423381	rs_1555995840	7 SubmittersRCV000581269 RCV001853948 RCV003236821 RCV004955669
NM_000044.6(AR):c.2117A>G (p.Asn706Ser)	SNV Germline	ChrX:67711633	Pathogenic	Androgen resistance syndrome Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts	CA413423451	rs_925822435	4 SubmittersRCV000583716 RCV001269927 RCV001860107
NM_000044.6(AR):c.2612C>T (p.Ala871Val)	SNV Germline	ChrX:67723690	Pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease Condition: not provided Hypospadias 1, X-linked	Criteria Provided Multiple Submitters No Conflicts	CA10436703	rs_143040492	8 SubmittersRCV000582850 RCV000687621 RCV001200503 RCV003222053
NM_000044.6(AR):c.1705G>T (p.Gly569Trp)	SNV Germline	ChrX:67643344	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter	CA413422794	rs_1555982864	1 SubmittersRCV000640476
NM_000044.6(AR):c.2053G>A (p.Val685Ile)	SNV Germline	ChrX:67711569	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter	CA413423307	rs_1555995822	1 SubmittersRCV000640475
NM_000044.6(AR):c.2450-6C>G	SNV Germline	ChrX:67722821	Pathogenic	Androgen resistance syndrome Kennedy disease Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_754515125	2 SubmittersRCV000660882 RCV003767919
NM_000044.6(AR):c.2318+1G>C	SNV Germline	ChrX:67717623	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter		rs_1569314508	1 SubmittersRCV000704129
NM_000044.6(AR):c.271C>T (p.Gln91Ter)	SNV Germline	ChrX:67545417	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_112374098	1 SubmittersRCV000697147
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)	SNV Germline	ChrX:67711413	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_1602272308	1 SubmittersRCV000806051
NM_000044.6(AR):c.2239G>A (p.Val747Met)	SNV Germline	ChrX:67717543	Pathogenic/Likely pathogenic	Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1602276233	2 SubmittersRCV000815871 RCV004720004
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		rs_9332970	3 SubmittersRCV000814876 RCV001568311 RCV004789218
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)	SNV Germline	ChrX:67723756	Pathogenic/Likely pathogenic	Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1602280356	3 SubmittersRCV000810850 RCV001785728
NM_000044.6(AR):c.1424C>T (p.Ala475Val)	SNV Germline	ChrX:67546570	Conflicting classifications of pathogenicity	not specified Condition: not provided Androgen resistance syndrome Kennedy disease Androgen resistance syndrome AR-related disorder Male infertility	Criteria Provided Conflicting Classifications		rs_200390780	10 SubmittersRCV001702761 RCV001356855 RCV000990851 RCV001858727 RCV003918617 RCV003983811
NM_000044.6(AR):c.1723C>G (p.Leu575Val)	SNV Germline	ChrX:67643362	Conflicting classifications of pathogenicity	Condition: not provided Kennedy disease Androgen resistance syndrome Male infertility Male infertility with azoospermia or oligozoospermia due to single gene mutation	Criteria Provided Conflicting Classifications		rs_376443652	4 SubmittersRCV000995933 RCV003769346 RCV003983813 RCV003991585
NM_000044.6(AR):c.463G>T (p.Glu155Ter)	SNV Germline	ChrX:67545609	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter		rs_764126853	1 SubmittersRCV001056832
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)	SNV Germline	ChrX:67643354	Pathogenic/Likely pathogenic	Androgen resistance syndrome Kennedy disease Androgen resistance syndrome AR-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1925886715	4 SubmittersRCV001070365 RCV003142027 RCV003396726
NM_000044.6(AR):c.2070C>G (p.His690Gln)	SNV Germline	ChrX:67711586	Conflicting classifications of pathogenicity	Kennedy disease Androgen resistance syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_754583155	2 SubmittersRCV001217034 RCV003317455
NM_000044.6(AR):c.2566C>A (p.Arg856Ser)	SNV Germline	ChrX:67722943	Pathogenic/Likely pathogenic	Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_886041132	2 SubmittersRCV001223380 RCV001567879
NM_000044.6(AR):c.2128G>A (p.Glu710Lys)	SNV Germline	ChrX:67711644	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter		rs_2076094436	1 SubmittersRCV001208881
NM_000044.6(AR):c.2283G>T (p.Arg761Ser)	SNV Germline	ChrX:67717587	Conflicting classifications of pathogenicity	Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_2076118894	2 SubmittersRCV001227160 RCV004546621
NM_000044.6(AR):c.1793G>C (p.Ser598Thr)	SNV Germline	ChrX:67686034	Conflicting classifications of pathogenicity	Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications		rs_2075964628	2 SubmittersRCV001269607 RCV002537724
NM_000044.6(AR):c.2591T>C (p.Leu864Pro)	SNV Germline	ChrX:67722968	Conflicting classifications of pathogenicity	Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications		rs_2076142560	2 SubmittersRCV001269737 RCV003770409
NM_000044.6(AR):c.2338C>T (p.Arg780Trp)	SNV Germline	ChrX:67721852	Pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2076137289	4 SubmittersRCV001270904 RCV001380447 RCV001561925
NM_000044.6(AR):c.2159C>T (p.Ala720Val)	SNV Germline	ChrX:67711675	Conflicting classifications of pathogenicity	Androgen resistance syndrome Kennedy disease Androgen resistance syndrome	Criteria Provided Conflicting Classifications		rs_2076094679	2 SubmittersRCV001372746 RCV003226464
NM_000044.6(AR):c.2237T>C (p.Met746Thr)	SNV Germline	ChrX:67717541	Pathogenic/Likely pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts		rs_2147530857	2 SubmittersRCV001375948 RCV001865883
NM_000044.6(AR):c.1063G>T (p.Glu355Ter)	SNV Germline	ChrX:67546209	Pathogenic	Androgen resistance syndrome Kennedy disease Androgen resistance syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_367604031	2 SubmittersRCV001390825 RCV001391229
NM_000044.6(AR):c.2225G>T (p.Trp742Leu)	SNV Germline	ChrX:67717529	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_2076118553	1 SubmittersRCV001380446
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)	SNV Germline	ChrX:67546447	Conflicting classifications of pathogenicity	Kennedy disease Androgen resistance syndrome Non-obstructive azoospermia Malignant tumor of prostate Male infertility	Criteria Provided Conflicting Classifications		rs_748457992	3 SubmittersRCV001517109 RCV001647308 RCV002246397 RCV003983938
NM_000044.6(AR):c.1885+4A>T	SNV Germline	ChrX:67686130	Conflicting classifications of pathogenicity	Condition: not provided Kennedy disease Androgen resistance syndrome	Criteria Provided Conflicting Classifications		rs_372585782	2 SubmittersRCV001559423 RCV003771711
NM_000044.6(AR):c.814C>T (p.Leu272Phe)	SNV Germline	ChrX:67545960	Conflicting classifications of pathogenicity	Condition: not provided Kennedy disease Androgen resistance syndrome Male infertility	Criteria Provided Conflicting Classifications		rs_148972137	4 SubmittersRCV001572631 RCV002568466 RCV003983980
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)	SNV Germline	ChrX:67686033	Conflicting classifications of pathogenicity	Non-obstructive azoospermia Malignant tumor of prostate Male infertility Kennedy disease Androgen resistance syndrome	Criteria Provided Conflicting Classifications		rs_142280455	3 SubmittersRCV001648499 RCV002246448 RCV003984021 RCV002538523
NM_000044.6(AR):c.2255G>A (p.Trp752Ter)	SNV Germline	ChrX:67717559	Pathogenic	Androgen resistance syndrome Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts		rs_2147530924	2 SubmittersRCV001787234 RCV003771874
NM_000044.6(AR):c.2197G>A (p.Asp733Asn)	SNV Germline	ChrX:67717501	Pathogenic/Likely pathogenic	Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts		rs_2147530668	2 SubmittersRCV001817840 RCV002542705
NM_000044.6(AR):c.2126G>T (p.Gly709Val)	SNV Germline	ChrX:67711642	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_2147525149	1 SubmittersRCV002035910
NM_000044.6(AR):c.1443C>A (p.Tyr481Ter)	SNV Germline	ChrX:67546589	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_766161615	1 SubmittersRCV001867583
NM_000044.6(AR):c.1A>T (p.Met1Leu)	SNV Germline	ChrX:67545147	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_2147313671	1 SubmittersRCV001964227
NM_000044.6(AR):c.358C>T (p.Gln120Ter)	SNV Germline	ChrX:67545504	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter		rs_1929683441	1 SubmittersRCV001923647
NM_000044.6(AR):c.7G>A (p.Val3Met)	SNV Germline	ChrX:67545153	Conflicting classifications of pathogenicity	Kennedy disease Androgen resistance syndrome Kennedy disease Hypospadias 1, X-linked Androgen resistance syndrome Partial androgen insensitivity syndrome Malignant tumor of prostate Ovarian cancer	Criteria Provided Conflicting Classifications		rs_778912582	3 SubmittersRCV001988640 RCV002492261 RCV003154053
NM_000044.6(AR):c.2318A>G (p.Glu773Gly)	SNV Germline	ChrX:67717622	Likely pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter		rs_2076119092	1 SubmittersRCV001991264
NM_000044.6(AR):c.1885+2T>G	SNV Germline	ChrX:67686128	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter		rs_2147497993	1 SubmittersRCV001946527
NM_000044.6(AR):c.2512G>T (p.Glu838Ter)	SNV Germline	ChrX:67722889	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_1555997775	1 SubmittersRCV001946629
NM_000044.6(AR):c.2515C>A (p.Leu839Ile)	SNV Germline	ChrX:67722892	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_2147537918	1 SubmittersRCV001963282
NM_000044.6(AR):c.1477C>T (p.Gln493Ter)	SNV Germline	ChrX:67546623	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter		rs_2147322621	1 SubmittersRCV001920317
NM_000044.6(AR):c.1063G>C (p.Glu355Gln)	SNV Germline	ChrX:67546209	Conflicting classifications of pathogenicity	Malignant tumor of prostate Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications		rs_367604031	2 SubmittersRCV002249260 RCV003774711
NM_000044.6(AR):c.1644G>T (p.Leu548Phe)	SNV Germline	ChrX:67643283	Conflicting classifications of pathogenicity	Malignant tumor of prostate Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications		rs_139524801	2 SubmittersRCV002249265 RCV003774713
NM_000044.6(AR):c.1651G>C (p.Asp551His)	SNV Germline	ChrX:67643290	Conflicting classifications of pathogenicity	Malignant tumor of prostate Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications		rs_777461721	2 SubmittersRCV002249266 RCV003774714
NM_000044.6(AR):c.2087A>T (p.Asp696Val)	SNV Germline	ChrX:67711603	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003064728
NM_000044.6(AR):c.2156G>A (p.Trp719Ter)	SNV Germline	ChrX:67711672	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003064729
NM_000044.6(AR):c.2256G>A (p.Trp752Ter)	SNV Germline	ChrX:67717560	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003041450
NM_000044.6(AR):c.2710G>A (p.Val904Met)	SNV Germline	ChrX:67723788	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003050617
NM_000044.6(AR):c.2761T>C (p.Ter921Arg)	SNV Germline	ChrX:67723839	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV002625804
NM_000044.6(AR):c.304A>T (p.Arg102Ter)	SNV Germline	ChrX:67545450	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002815395
NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)	SNV Germline	ChrX:67546370	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002797041
NM_000044.6(AR):c.2174-2A>G	SNV Germline	ChrX:67717476	Likely pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002802182
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)	SNV Germline	ChrX:67643395	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV002985696
NM_000044.6(AR):c.967G>T (p.Glu323Ter)	SNV Germline	ChrX:67546113	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003033737
NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)	SNV Germline	ChrX:67717524	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003000181
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)	SNV Germline	ChrX:67546332	Conflicting classifications of pathogenicity	Ovarian cancer Kennedy disease Androgen resistance syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003154742 RCV003778921
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)	SNV Germline	ChrX:67546381	Conflicting classifications of pathogenicity	Inborn genetic diseases Kennedy disease Androgen resistance syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003207384 RCV003779643
NM_000044.6(AR):c.2473C>A (p.Gln825Lys)	SNV Germline	ChrX:67722850	Likely pathogenic	AR-related disorder Androgen resistance syndrome Kennedy disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003404520 RCV003778233
NM_000044.6(AR):c.458C>T (p.Pro153Leu)	SNV Germline	ChrX:67545604	Conflicting classifications of pathogenicity	Condition: not provided Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV003490475 RCV003779236
NM_000044.6(AR):c.1106T>C (p.Leu369Pro)	SNV Germline	ChrX:67546252	Conflicting classifications of pathogenicity	Male infertility with azoospermia or oligozoospermia due to single gene mutation Androgen resistance syndrome Kennedy disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV003991609 RCV003779264
NM_000044.6(AR):c.2017A>G (p.Ile673Val)	SNV Germline	ChrX:67711533	Conflicting classifications of pathogenicity	Kennedy disease Androgen resistance syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003783456 RCV004366514
NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)	SNV Germline	ChrX:67546751	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003783769
NM_000044.6(AR):c.1972C>T (p.Gln658Ter)	SNV Germline	ChrX:67711488	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003783770
NM_000044.6(AR):c.2169G>T (p.Leu723Phe)	SNV Germline	ChrX:67711685	Likely pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003783771
NM_000044.6(AR):c.2233C>T (p.Leu745Phe)	SNV Germline	ChrX:67717537	Likely pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003783773
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)	SNV Germline	ChrX:67722868	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003783775
NM_000044.6(AR):c.2677C>T (p.Pro893Ser)	SNV Germline	ChrX:67723755	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003783776
NM_000044.6(AR):c.559G>T (p.Glu187Ter)	SNV Germline	ChrX:67545705	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003783034
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)	SNV Germline	ChrX:67722858	Conflicting classifications of pathogenicity	Kennedy disease Androgen resistance syndrome Male infertility AR-related disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV003795561 RCV003984425 RCV003966674
NM_000044.6(AR):c.190C>T (p.Gln64Ter)	SNV Germline	ChrX:67545336	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003807925
NM_000044.6(AR):c.1743G>C (p.Lys581Asn)	SNV Germline	ChrX:67643382	Likely pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003807953
NM_000044.6(AR):c.2225G>A (p.Trp742Ter)	SNV Germline	ChrX:67717529	Pathogenic	Androgen resistance syndrome Kennedy disease	Criteria Provided Single Submitter			1 SubmittersRCV003802931
NM_000044.6(AR):c.2319-1G>C	SNV Germline	ChrX:67721832	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003802052
NM_000044.6(AR):c.187C>T (p.Gln63Ter)	SNV Germline	ChrX:67545333	Pathogenic	Kennedy disease Androgen resistance syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003801744

SNV
Germline

ChrX:67721837

Pathogenic

Androgen resistance syndrome
Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

CA120701

rs_137852562

6 SubmittersRCV000010478 RCV001818149 RCV001056795

NM_000044.6(AR):c.2599G>A (p.Val867Met)

SNV
Germline

ChrX:67722976

Pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Partial androgen insensitivity syndrome
Malignant tumor of prostate
Hypospadias 1, X-linked
Androgen resistance syndrome
Kennedy disease
AR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA120683

rs_137852564

6 SubmittersRCV000010480 RCV000763628 RCV001381188 RCV003421916

NM_000044.6(AR):c.2391G>A (p.Trp797Ter)

SNV
Germline

ChrX:67721905

Pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

CA120686

rs_137852565

2 SubmittersRCV000010481 RCV000698414

NM_000044.6(AR):c.1789G>A (p.Ala597Thr)

SNV
Germline

ChrX:67686030

Pathogenic

Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA120703

rs_137852569

5 SubmittersRCV000010487 RCV000640478 RCV001269612

NM_000044.6(AR):c.2191G>A (p.Val731Met)

SNV
Germline/somatic

ChrX:67717495

Conflicting classifications of pathogenicity

Prostate cancer, somatic
Malignant tumor of prostate
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

CA120709

rs_137852571

3 SubmittersRCV000010491 RCV002247310 RCV003764544

NM_000044.6(AR):c.2324G>A (p.Arg775His)

SNV
Germline

ChrX:67721838

Pathogenic

Androgen resistance syndrome
Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

CA120712

rs_137852572

4 SubmittersRCV000010493 RCV001781214 RCV001384255

NM_000044.6(AR):c.1823G>A (p.Arg608Gln)

SNV
Germline

ChrX:67686064

Pathogenic/Likely pathogenic

Partial androgen insensitivity syndrome
Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

CA120715

rs_137852573

4 SubmittersRCV000010494 RCV000382955 RCV000806067

NM_000044.6(AR):c.2567G>A (p.Arg856His)

SNV
Germline

ChrX:67722944

Pathogenic/Likely pathogenic

Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
Male infertility

Criteria Provided
Multiple Submitters
No Conflicts

CA120721

rs_9332971

7 SubmittersRCV000010497 RCV000582251 RCV000532628 RCV003982834

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 SubmittersRCV000010503 RCV000582333 RCV000814875 RCV001269861

NM_000044.6(AR):c.2521C>T (p.Arg841Cys)

SNV
Germline

ChrX:67722898

Pathogenic

Partial androgen insensitivity syndrome
Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA120734

rs_137852577

5 SubmittersRCV000010504 RCV000010529 RCV000640474 RCV001269809

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
Malignant tumor of prostate
not specified
Male infertility

Criteria Provided
Conflicting Classifications

CA120774

rs_137852591

8 SubmittersRCV000010520 RCV000224621 RCV001519068 RCV002247311 RCV003234899 RCV003982835

NM_000044.6(AR):c.2180G>T (p.Arg727Leu)

SNV
Germline

ChrX:67717484

Conflicting classifications of pathogenicity

Prostate cancer susceptibility
Malignant tumor of prostate
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

CA120780

rs_137852593

3 SubmittersRCV000010523 RCV002247312 RCV003764545

NM_000044.6(AR):c.2667C>T (p.Ser889=)

SNV
Germline

ChrX:67723745

Pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA254897

rs_137852594

5 SubmittersRCV000010524 RCV001059742 RCV001785450

NM_000044.6(AR):c.2231G>T (p.Gly744Val)

SNV
Germline

ChrX:67717535

Pathogenic

Partial androgen insensitivity syndrome
Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

CA120786

rs_137852600

2 SubmittersRCV000010531 RCV000010532 RCV001851781

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
Androgen resistance syndrome
Kennedy disease
AR-related disorder
Male infertility

Criteria Provided
Conflicting Classifications

CA120795

rs_1800053

10 SubmittersRCV000010536 RCV000613283 RCV000995934 RCV000824699 RCV002512959 RCV003924823 RCV003982836

NM_000044.6(AR):c.1174C>T (p.Pro392Ser)

SNV
Germline

ChrX:67546320

Conflicting classifications of pathogenicity

Partial androgen insensitivity syndrome
not specified
Hypospadias 1, X-linked
Androgen resistance syndrome
Condition: not provided
Androgen resistance syndrome
Kennedy disease
Partial androgen insensitivity syndrome
Androgen resistance syndrome
AR-related disorder

Criteria Provided
Conflicting Classifications

CA210003

rs_201934623

15 SubmittersRCV000196772 RCV000499525 RCV000627669 RCV000990850 RCV001269900 RCV001516905 RCV002221510 RCV003927863

NM_000044.6(AR):c.2257C>T (p.Arg753Ter)

SNV
Germline

ChrX:67717561

Pathogenic

Condition: not provided
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588795

rs_886039558

4 SubmittersRCV000255883 RCV000640477 RCV001848042

NM_000044.6(AR):c.1847G>A (p.Arg616His)

SNV
Germline

ChrX:67686088

Pathogenic

Androgen resistance syndrome
Kennedy disease
Condition: not provided
Partial androgen insensitivity syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10436525

rs_754201976

4 SubmittersRCV000532795 RCV000288478 RCV004720249

NM_000044.6(AR):c.2566C>T (p.Arg856Cys)

SNV
Germline

ChrX:67722943

Pathogenic

Androgen resistance syndrome
Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10603683

rs_886041132

4 SubmittersRCV000584628 RCV000294192 RCV003765576

NM_000044.6(AR):c.2668G>A (p.Val890Met)

SNV
Germline

ChrX:67723746

Pathogenic

Condition: not provided
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603685

rs_886041133

5 SubmittersRCV000280545 RCV000582566 RCV000696602

NM_000044.6(AR):c.1822C>T (p.Arg608Ter)

SNV
Germline

ChrX:67686063

Pathogenic

Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

CA10603734

rs_886041128

5 SubmittersRCV000272791 RCV001859531

NM_000044.6(AR):c.2659A>G (p.Met887Val)

SNV
Germline

ChrX:67723737

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Androgen resistance syndrome
Kennedy disease
not specified

Criteria Provided
Conflicting Classifications

CA10436708

rs_755226547

4 SubmittersRCV000399756 RCV000623126 RCV001518328 RCV003330619

NM_000044.6(AR):c.173A>T (p.Gln58Leu)

SNV
Germline

ChrX:67545319

Conflicting classifications of pathogenicity

not specified
Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
Malignant tumor of prostate
Hypospadias 1, X-linked
Male infertility
Condition: not provided
Partial androgen insensitivity syndrome
Androgen resistance syndrome
Kennedy disease
Familial prostate cancer
Hypospadias 1, X-linked

Criteria Provided
Conflicting Classifications

CA10436236

rs_200185441

5 SubmittersRCV000455544 RCV000766100 RCV003983052 RCV004696189 RCV004796181

NM_000044.6(AR):c.2420G>A (p.Cys807Tyr)

SNV
Germline

ChrX:67721934

Conflicting classifications of pathogenicity

Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

CA16621466

rs_1064793480

2 SubmittersRCV000482241 RCV001056954

NM_000044.6(AR):c.2248A>G (p.Met750Val)

SNV
Germline

ChrX:67717552

Pathogenic

Condition: not provided
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA413424646

rs_1085307685

2 SubmittersRCV000488944 RCV003766746

NM_000044.6(AR):c.1139C>G (p.Pro380Arg)

SNV
Germline

ChrX:67546285

Conflicting classifications of pathogenicity

not specified
Androgen resistance syndrome
Kennedy disease
Condition: not provided
AR-related disorder

Criteria Provided
Conflicting Classifications

CA10436383

rs_200510049

4 SubmittersRCV000502913 RCV002060099 RCV001865599 RCV003932816

NM_000044.6(AR):c.292C>T (p.Gln98Ter)

SNV
Germline

ChrX:67545438

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

CA413424226

rs_1555969553

1 SubmittersRCV000529989

NM_000044.6(AR):c.2296G>A (p.Ala766Thr)

SNV
Germline

ChrX:67717600

Pathogenic

Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA413424759

rs_1555996863

5 SubmittersRCV000546202 RCV000791383 RCV001270001

NM_000044.6(AR):c.2698A>T (p.Ile900Phe)

SNV
Germline

ChrX:67723776

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

CA413428361

rs_1555998108

1 SubmittersRCV000554118

NM_000044.6(AR):c.268C>T (p.Gln90Ter)

SNV
Germline

ChrX:67545414

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

CA413424176

rs_1555969545

1 SubmittersRCV001384434

NM_000044.6(AR):c.1805G>A (p.Cys602Tyr)

SNV
Germline

ChrX:67686046

Likely pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

CA413429210

rs_1555990470

1 SubmittersRCV000554482

NM_000044.6(AR):c.1850T>C (p.Leu617Pro)

SNV
Germline

ChrX:67686091

Likely pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

CA413429312

rs_1555990488

1 SubmittersRCV001377727

NM_000044.6(AR):c.2176T>C (p.Phe726Leu)

SNV
Germline

ChrX:67717480

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

CA413424259

rs_1555996810

1 SubmittersRCV000535980

NM_000044.6(AR):c.2359C>T (p.Arg787Ter)

SNV
Germline

ChrX:67721873

Pathogenic

Kennedy disease
Androgen resistance syndrome
Condition: not provided
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA413426582

rs_1555997580

4 SubmittersRCV000534959 RCV001821511 RCV004719853

NM_000044.6(AR):c.2495G>A (p.Arg832Gln)

SNV
Germline

ChrX:67722872

Pathogenic

Kennedy disease
Androgen resistance syndrome
Condition: not provided
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA413427711

rs_1386577803

4 SubmittersRCV000528841 RCV001200502 RCV002272280

NM_000044.6(AR):c.321C>A (p.Tyr107Ter)

SNV
Germline

ChrX:67545467

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

CA413424319

rs_1481151440

1 SubmittersRCV001381488

NM_000044.6(AR):c.1443C>G (p.Tyr481Ter)

SNV
Germline

ChrX:67546589

Pathogenic

Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA413427364

rs_766161615

2 SubmittersRCV000543473 RCV001387509

NM_000044.6(AR):c.2103G>T (p.Leu701Phe)

SNV
Germline

ChrX:67711619

Likely pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

CA413423421

rs_1555995848

1 SubmittersRCV001376911

NM_000044.6(AR):c.475G>A (p.Ala159Thr)

SNV
Germline

ChrX:67545621

Conflicting classifications of pathogenicity

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
not specified
AR-related disorder
Male infertility

Criteria Provided
Conflicting Classifications

CA10436283

rs_370215797

5 SubmittersRCV000581733 RCV003767317 RCV004586808 RCV004754481 RCV003983133

NM_000044.6(AR):c.2086G>A (p.Asp696Asn)

SNV
Germline

ChrX:67711602

Pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA413423381

rs_1555995840

7 SubmittersRCV000581269 RCV001853948 RCV003236821 RCV004955669

NM_000044.6(AR):c.2117A>G (p.Asn706Ser)

SNV
Germline

ChrX:67711633

Pathogenic

Androgen resistance syndrome
Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

CA413423451

rs_925822435

4 SubmittersRCV000583716 RCV001269927 RCV001860107

NM_000044.6(AR):c.2612C>T (p.Ala871Val)

SNV
Germline

ChrX:67723690

Pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Condition: not provided
Hypospadias 1, X-linked

Criteria Provided
Multiple Submitters
No Conflicts

CA10436703

rs_143040492

8 SubmittersRCV000582850 RCV000687621 RCV001200503 RCV003222053

NM_000044.6(AR):c.1705G>T (p.Gly569Trp)

SNV
Germline

ChrX:67643344

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

CA413422794

rs_1555982864

1 SubmittersRCV000640476

NM_000044.6(AR):c.2053G>A (p.Val685Ile)

SNV
Germline

ChrX:67711569

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

CA413423307

rs_1555995822

1 SubmittersRCV000640475

NM_000044.6(AR):c.2450-6C>G

SNV
Germline

ChrX:67722821

Pathogenic

Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_754515125

2 SubmittersRCV000660882 RCV003767919

NM_000044.6(AR):c.2318+1G>C

SNV
Germline

ChrX:67717623

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

rs_1569314508

1 SubmittersRCV000704129

NM_000044.6(AR):c.271C>T (p.Gln91Ter)

SNV
Germline

ChrX:67545417

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_112374098

1 SubmittersRCV000697147

NM_000044.6(AR):c.1897A>T (p.Lys633Ter)

SNV
Germline

ChrX:67711413

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_1602272308

1 SubmittersRCV000806051

NM_000044.6(AR):c.2239G>A (p.Val747Met)

SNV
Germline

ChrX:67717543

Pathogenic/Likely pathogenic

Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602276233

2 SubmittersRCV000815871 RCV004720004

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

rs_9332970

3 SubmittersRCV000814876 RCV001568311 RCV004789218

NM_000044.6(AR):c.2678C>T (p.Pro893Leu)

SNV
Germline

ChrX:67723756

Pathogenic/Likely pathogenic

Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602280356

3 SubmittersRCV000810850 RCV001785728

NM_000044.6(AR):c.1424C>T (p.Ala475Val)

SNV
Germline

ChrX:67546570

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
AR-related disorder
Male infertility

Criteria Provided
Conflicting Classifications

rs_200390780

10 SubmittersRCV001702761 RCV001356855 RCV000990851 RCV001858727 RCV003918617 RCV003983811

NM_000044.6(AR):c.1723C>G (p.Leu575Val)

SNV
Germline

ChrX:67643362

Conflicting classifications of pathogenicity

Condition: not provided
Kennedy disease
Androgen resistance syndrome
Male infertility
Male infertility with azoospermia or oligozoospermia due to single gene mutation

Criteria Provided
Conflicting Classifications

rs_376443652

4 SubmittersRCV000995933 RCV003769346 RCV003983813 RCV003991585

NM_000044.6(AR):c.463G>T (p.Glu155Ter)

SNV
Germline

ChrX:67545609

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

rs_764126853

1 SubmittersRCV001056832

NM_000044.6(AR):c.1715A>G (p.Tyr572Cys)

SNV
Germline

ChrX:67643354

Pathogenic/Likely pathogenic

Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome
AR-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1925886715

4 SubmittersRCV001070365 RCV003142027 RCV003396726

NM_000044.6(AR):c.2070C>G (p.His690Gln)

SNV
Germline

ChrX:67711586

Conflicting classifications of pathogenicity

Kennedy disease
Androgen resistance syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754583155

2 SubmittersRCV001217034 RCV003317455

NM_000044.6(AR):c.2566C>A (p.Arg856Ser)

SNV
Germline

ChrX:67722943

Pathogenic/Likely pathogenic

Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_886041132

2 SubmittersRCV001223380 RCV001567879

NM_000044.6(AR):c.2128G>A (p.Glu710Lys)

SNV
Germline

ChrX:67711644

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

rs_2076094436

1 SubmittersRCV001208881

NM_000044.6(AR):c.2283G>T (p.Arg761Ser)

SNV
Germline

ChrX:67717587

Conflicting classifications of pathogenicity

Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2076118894

2 SubmittersRCV001227160 RCV004546621

NM_000044.6(AR):c.1793G>C (p.Ser598Thr)

SNV
Germline

ChrX:67686034

Conflicting classifications of pathogenicity

Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

rs_2075964628

2 SubmittersRCV001269607 RCV002537724

NM_000044.6(AR):c.2591T>C (p.Leu864Pro)

SNV
Germline

ChrX:67722968

Conflicting classifications of pathogenicity

Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

rs_2076142560

2 SubmittersRCV001269737 RCV003770409

NM_000044.6(AR):c.2338C>T (p.Arg780Trp)

SNV
Germline

ChrX:67721852

Pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2076137289

4 SubmittersRCV001270904 RCV001380447 RCV001561925

NM_000044.6(AR):c.2159C>T (p.Ala720Val)

SNV
Germline

ChrX:67711675

Conflicting classifications of pathogenicity

Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Conflicting Classifications

rs_2076094679

2 SubmittersRCV001372746 RCV003226464

NM_000044.6(AR):c.2237T>C (p.Met746Thr)

SNV
Germline

ChrX:67717541

Pathogenic/Likely pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147530857

2 SubmittersRCV001375948 RCV001865883

NM_000044.6(AR):c.1063G>T (p.Glu355Ter)

SNV
Germline

ChrX:67546209

Pathogenic

Androgen resistance syndrome
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_367604031

2 SubmittersRCV001390825 RCV001391229

NM_000044.6(AR):c.2225G>T (p.Trp742Leu)

SNV
Germline

ChrX:67717529

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_2076118553

1 SubmittersRCV001380446

NM_000044.6(AR):c.1301C>T (p.Ser434Phe)

SNV
Germline

ChrX:67546447

Conflicting classifications of pathogenicity

Kennedy disease
Androgen resistance syndrome
Non-obstructive azoospermia
Malignant tumor of prostate
Male infertility

Criteria Provided
Conflicting Classifications

rs_748457992

3 SubmittersRCV001517109 RCV001647308 RCV002246397 RCV003983938

NM_000044.6(AR):c.1885+4A>T

SNV
Germline

ChrX:67686130

Conflicting classifications of pathogenicity

Condition: not provided
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Conflicting Classifications

rs_372585782

2 SubmittersRCV001559423 RCV003771711

NM_000044.6(AR):c.814C>T (p.Leu272Phe)

SNV
Germline

ChrX:67545960

Conflicting classifications of pathogenicity

Condition: not provided
Kennedy disease
Androgen resistance syndrome
Male infertility

Criteria Provided
Conflicting Classifications

rs_148972137

4 SubmittersRCV001572631 RCV002568466 RCV003983980

NM_000044.6(AR):c.1792A>G (p.Ser598Gly)

SNV
Germline

ChrX:67686033

Conflicting classifications of pathogenicity

Non-obstructive azoospermia
Malignant tumor of prostate
Male infertility
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Conflicting Classifications

rs_142280455

3 SubmittersRCV001648499 RCV002246448 RCV003984021 RCV002538523

NM_000044.6(AR):c.2255G>A (p.Trp752Ter)

SNV
Germline

ChrX:67717559

Pathogenic

Androgen resistance syndrome
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147530924

2 SubmittersRCV001787234 RCV003771874

NM_000044.6(AR):c.2197G>A (p.Asp733Asn)

SNV
Germline

ChrX:67717501

Pathogenic/Likely pathogenic

Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2147530668

2 SubmittersRCV001817840 RCV002542705

NM_000044.6(AR):c.2126G>T (p.Gly709Val)

SNV
Germline

ChrX:67711642

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_2147525149

1 SubmittersRCV002035910

NM_000044.6(AR):c.1443C>A (p.Tyr481Ter)

SNV
Germline

ChrX:67546589

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_766161615

1 SubmittersRCV001867583

NM_000044.6(AR):c.1A>T (p.Met1Leu)

SNV
Germline

ChrX:67545147

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_2147313671

1 SubmittersRCV001964227

NM_000044.6(AR):c.358C>T (p.Gln120Ter)

SNV
Germline

ChrX:67545504

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

rs_1929683441

1 SubmittersRCV001923647

NM_000044.6(AR):c.7G>A (p.Val3Met)

SNV
Germline

ChrX:67545153

Conflicting classifications of pathogenicity

Kennedy disease
Androgen resistance syndrome
Kennedy disease
Hypospadias 1, X-linked
Androgen resistance syndrome
Partial androgen insensitivity syndrome
Malignant tumor of prostate
Ovarian cancer

Criteria Provided
Conflicting Classifications

rs_778912582

3 SubmittersRCV001988640 RCV002492261 RCV003154053

NM_000044.6(AR):c.2318A>G (p.Glu773Gly)

SNV
Germline

ChrX:67717622

Likely pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

rs_2076119092

1 SubmittersRCV001991264

NM_000044.6(AR):c.1885+2T>G

SNV
Germline

ChrX:67686128

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

rs_2147497993

1 SubmittersRCV001946527

NM_000044.6(AR):c.2512G>T (p.Glu838Ter)

SNV
Germline

ChrX:67722889

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_1555997775

1 SubmittersRCV001946629

NM_000044.6(AR):c.2515C>A (p.Leu839Ile)

SNV
Germline

ChrX:67722892

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_2147537918

1 SubmittersRCV001963282

NM_000044.6(AR):c.1477C>T (p.Gln493Ter)

SNV
Germline

ChrX:67546623

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

rs_2147322621

1 SubmittersRCV001920317

NM_000044.6(AR):c.1063G>C (p.Glu355Gln)

SNV
Germline

ChrX:67546209

Conflicting classifications of pathogenicity

Malignant tumor of prostate
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

rs_367604031

2 SubmittersRCV002249260 RCV003774711

NM_000044.6(AR):c.1644G>T (p.Leu548Phe)

SNV
Germline

ChrX:67643283

Conflicting classifications of pathogenicity

Malignant tumor of prostate
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

rs_139524801

2 SubmittersRCV002249265 RCV003774713

NM_000044.6(AR):c.1651G>C (p.Asp551His)

SNV
Germline

ChrX:67643290

Conflicting classifications of pathogenicity

Malignant tumor of prostate
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

rs_777461721

2 SubmittersRCV002249266 RCV003774714

NM_000044.6(AR):c.2087A>T (p.Asp696Val)

SNV
Germline

ChrX:67711603

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003064728

NM_000044.6(AR):c.2156G>A (p.Trp719Ter)

SNV
Germline

ChrX:67711672

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003064729

NM_000044.6(AR):c.2256G>A (p.Trp752Ter)

SNV
Germline

ChrX:67717560

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003041450

NM_000044.6(AR):c.2710G>A (p.Val904Met)

SNV
Germline

ChrX:67723788

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003050617

NM_000044.6(AR):c.2761T>C (p.Ter921Arg)

SNV
Germline

ChrX:67723839

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV002625804

NM_000044.6(AR):c.304A>T (p.Arg102Ter)

SNV
Germline

ChrX:67545450

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002815395

NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)

SNV
Germline

ChrX:67546370

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002797041

NM_000044.6(AR):c.2174-2A>G

SNV
Germline

ChrX:67717476

Likely pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002802182

NM_000044.6(AR):c.1756A>T (p.Arg586Ter)

SNV
Germline

ChrX:67643395

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV002985696

NM_000044.6(AR):c.967G>T (p.Glu323Ter)

SNV
Germline

ChrX:67546113

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003033737

NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)

SNV
Germline

ChrX:67717524

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003000181

NM_000044.6(AR):c.1186G>C (p.Gly396Arg)

SNV
Germline

ChrX:67546332

Conflicting classifications of pathogenicity

Ovarian cancer
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003154742 RCV003778921

NM_000044.6(AR):c.1235C>A (p.Ala412Glu)

SNV
Germline

ChrX:67546381

Conflicting classifications of pathogenicity

Inborn genetic diseases
Kennedy disease
Androgen resistance syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003207384 RCV003779643

NM_000044.6(AR):c.2473C>A (p.Gln825Lys)

SNV
Germline

ChrX:67722850

Likely pathogenic

AR-related disorder
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003404520 RCV003778233

NM_000044.6(AR):c.458C>T (p.Pro153Leu)

SNV
Germline

ChrX:67545604

Conflicting classifications of pathogenicity

Condition: not provided
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003490475 RCV003779236

NM_000044.6(AR):c.1106T>C (p.Leu369Pro)

SNV
Germline

ChrX:67546252

Conflicting classifications of pathogenicity

Male infertility with azoospermia or oligozoospermia due to single gene mutation
Androgen resistance syndrome
Kennedy disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003991609 RCV003779264

NM_000044.6(AR):c.2017A>G (p.Ile673Val)

SNV
Germline

ChrX:67711533

Conflicting classifications of pathogenicity

Kennedy disease
Androgen resistance syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003783456 RCV004366514

NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)

SNV
Germline

ChrX:67546751

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783769

NM_000044.6(AR):c.1972C>T (p.Gln658Ter)

SNV
Germline

ChrX:67711488

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783770

NM_000044.6(AR):c.2169G>T (p.Leu723Phe)

SNV
Germline

ChrX:67711685

Likely pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783771

NM_000044.6(AR):c.2233C>T (p.Leu745Phe)

SNV
Germline

ChrX:67717537

Likely pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783773

NM_000044.6(AR):c.2491C>T (p.Leu831Phe)

SNV
Germline

ChrX:67722868

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783775

NM_000044.6(AR):c.2677C>T (p.Pro893Ser)

SNV
Germline

ChrX:67723755

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783776

NM_000044.6(AR):c.559G>T (p.Glu187Ter)

SNV
Germline

ChrX:67545705

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003783034

NM_000044.6(AR):c.2481C>A (p.Phe827Leu)

SNV
Germline

ChrX:67722858

Conflicting classifications of pathogenicity

Kennedy disease
Androgen resistance syndrome
Male infertility
AR-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003795561 RCV003984425 RCV003966674

NM_000044.6(AR):c.190C>T (p.Gln64Ter)

SNV
Germline

ChrX:67545336

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003807925

NM_000044.6(AR):c.1743G>C (p.Lys581Asn)

SNV
Germline

ChrX:67643382

Likely pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003807953

NM_000044.6(AR):c.2225G>A (p.Trp742Ter)

SNV
Germline

ChrX:67717529

Pathogenic

Androgen resistance syndrome
Kennedy disease

Criteria Provided
Single Submitter

1 SubmittersRCV003802931

NM_000044.6(AR):c.2319-1G>C

SNV
Germline

ChrX:67721832

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003802052

NM_000044.6(AR):c.187C>T (p.Gln63Ter)

SNV
Germline

ChrX:67545333

Pathogenic

Kennedy disease
Androgen resistance syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003801744