| NM_000044.6(AR):c.321C>A (p.Tyr107Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001381488] |
ChrX:67545467 [GRCh38]
ChrX:66765309 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) |
insertion |
Androgen resistance syndrome [RCV000560814]|not provided [RCV004777718] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
likely benign|uncertain significance |
| NM_000044.6(AR):c.2696T>C (p.Ile899Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000546100] |
ChrX:67723774 [GRCh38]
ChrX:66943616 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2698A>T (p.Ile900Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV000554118] |
ChrX:67723776 [GRCh38]
ChrX:66943618 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.1370GCG[16] (p.Gly473del) |
microsatellite |
Androgen resistance syndrome [RCV001400547]|not provided [RCV000558905] |
ChrX:67546515..67546517 [GRCh38]
ChrX:66766357..66766359 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1813G>C (p.Asp605His) |
single nucleotide variant |
not provided [RCV000522331] |
ChrX:67686054 [GRCh38]
ChrX:66905896 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NG_009014.2:g.(7732_?)del |
deletion |
Androgen resistance syndrome [RCV000010476] |
ChrX:Xq11-q12 |
pathogenic |
| AR, PARTIAL DEL |
deletion |
Androgen resistance syndrome [RCV000010477] |
ChrX:Xq11-q12 |
pathogenic |
| NM_000044.6(AR):c.2323C>T (p.Arg775Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010478]|Androgen resistance syndrome [RCV001056795]|not provided [RCV001818149] |
ChrX:67721837 [GRCh38]
ChrX:66941679 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2157G>A (p.Trp719Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010479] |
ChrX:67711673 [GRCh38]
ChrX:66931515 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2599G>A (p.Val867Met) |
single nucleotide variant |
AR-related disorder [RCV003421916]|Androgen resistance syndrome [RCV000010480]|Androgen resistance syndrome [RCV000763628]|Androgen resistance syndrome [RCV001381188] |
ChrX:67722976 [GRCh38]
ChrX:66942818 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2391G>A (p.Trp797Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010481]|Androgen resistance syndrome [RCV000698414] |
ChrX:67721905 [GRCh38]
ChrX:66941747 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1771A>T (p.Lys591Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010482] |
ChrX:67686012 [GRCh38]
ChrX:66905854 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1943G>A (p.Ser648Asn) |
single nucleotide variant |
Prostate cancer, somatic [RCV000010483] |
ChrX:67711459 [GRCh38]
ChrX:66931301 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV000010484] |
ChrX:67717595 [GRCh38]
ChrX:66937437 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2650A>T (p.Lys884Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010485] |
ChrX:67723728 [GRCh38]
ChrX:66943570 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.3(AR):c.2323C>T (p.Arg775Cys) |
single nucleotide variant |
Androgen insensitivity, complete [RCV000010486] |
ChrX:67721837 [GRCh38]
ChrX:66941679 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1789G>A (p.Ala597Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000640478]|Disorder of sexual differentiation [RCV005241234]|Partial androgen insensitivity syndrome [RCV000010487]|not provided [RCV001269612] |
ChrX:67686030 [GRCh38]
ChrX:66905872 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2362A>G (p.Met788Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010488] |
ChrX:67721876 [GRCh38]
ChrX:66941718 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.180_181del (p.Gln61fs) |
deletion |
Androgen resistance syndrome [RCV000010489] |
ChrX:67545326..67545327 [GRCh38]
ChrX:66765168..66765169 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2571C>G (p.Phe857Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010490] |
ChrX:67722948 [GRCh38]
ChrX:66942790 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2191G>A (p.Val731Met) |
single nucleotide variant |
Androgen resistance syndrome [RCV003764544]|Malignant tumor of prostate [RCV002247310]|Prostate cancer, somatic [RCV000010491] |
ChrX:67717495 [GRCh38]
ChrX:66937337 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6:c.171GCA[10_36] |
microsatellite |
Kennedy disease [RCV000010492] |
ChrX:67545318..67545320 [GRCh38]
ChrX:66765160..66765162 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2324G>A (p.Arg775His) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010493]|Androgen resistance syndrome [RCV001384255]|not provided [RCV001781214] |
ChrX:67721838 [GRCh38]
ChrX:66941680 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1823G>A (p.Arg608Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV000806067]|Partial androgen insensitivity syndrome [RCV000010494]|not provided [RCV000382955] |
ChrX:67686064 [GRCh38]
ChrX:66905906 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2599G>T (p.Val867Leu) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV000010496] |
ChrX:67722976 [GRCh38]
ChrX:66942818 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2567G>A (p.Arg856His) |
single nucleotide variant |
Androgen resistance syndrome [RCV000532628]|Androgen resistance syndrome [RCV000582251]|Male infertility [RCV003982834]|Partial androgen insensitivity syndrome [RCV000010497] |
ChrX:67722944 [GRCh38]
ChrX:66942786 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2610T>G (p.Ile870Met) |
single nucleotide variant |
Hypospadias 1, X-linked [RCV000010498] |
ChrX:67723688 [GRCh38]
ChrX:66943530 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.178C>T (p.Gln60Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010499]|not provided [RCV003129750] |
ChrX:67545324 [GRCh38]
ChrX:66765166 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del |
deletion |
Androgen resistance syndrome [RCV000010500] |
ChrX:Xq11-q12 |
pathogenic |
| NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del |
deletion |
Androgen resistance syndrome [RCV000010501] |
ChrX:Xq11-q12 |
pathogenic |
| NM_000044.6(AR):c.1826G>A (p.Arg609Lys) |
single nucleotide variant |
Androgen insensitivity, partial, with breast cancer [RCV000010502] |
ChrX:67686067 [GRCh38]
ChrX:66905909 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2522G>A (p.Arg841His) |
single nucleotide variant |
Androgen resistance syndrome [RCV000582333]|Androgen resistance syndrome [RCV000814875]|Partial androgen insensitivity syndrome [RCV000010503]|not provided [RCV001269861] |
ChrX:67722899 [GRCh38]
ChrX:66942741 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2521C>T (p.Arg841Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010529]|Androgen resistance syndrome [RCV000640474]|Partial androgen insensitivity syndrome [RCV000010504]|not provided [RCV001269809] |
ChrX:67722898 [GRCh38]
ChrX:66942740 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2632A>G (p.Thr878Ala) |
single nucleotide variant |
Prostate cancer, somatic [RCV000010505] |
ChrX:67723710 [GRCh38]
ChrX:66943552 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2033T>C (p.Leu678Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010506] |
ChrX:67711549 [GRCh38]
ChrX:66931391 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2633C>G (p.Thr878Ser) |
single nucleotide variant |
Prostate cancer, somatic [RCV000010507] |
ChrX:67723711 [GRCh38]
ChrX:66943553 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2623C>T (p.His875Tyr) |
single nucleotide variant |
Prostate cancer, somatic [RCV000010508] |
ChrX:67723701 [GRCh38]
ChrX:66943543 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2708A>G (p.Gln903Arg) |
single nucleotide variant |
Prostate cancer, somatic [RCV000010509] |
ChrX:67723786 [GRCh38]
ChrX:66943628 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2164G>A (p.Ala722Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV001305872]|Prostate cancer, somatic [RCV000010510]|not specified [RCV004767001] |
ChrX:67711680 [GRCh38]
ChrX:66931522 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.2123T>G (p.Leu708Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010511] |
ChrX:67711639 [GRCh38]
ChrX:66931481 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1739G>T (p.Cys580Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010512] |
ChrX:67643378 [GRCh38]
ChrX:66863220 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1748T>A (p.Phe583Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010513] |
ChrX:67643387 [GRCh38]
ChrX:66863229 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1645C>T (p.Pro549Ser) |
single nucleotide variant |
Hypospadias 1, X-linked [RCV000010514]|not specified [RCV004700212] |
ChrX:67643284 [GRCh38]
ChrX:66863126 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.4G>A (p.Glu2Lys) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV000010515] |
ChrX:67545150 [GRCh38]
ChrX:66764992 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2343G>T (p.Met781Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010516] |
ChrX:67721857 [GRCh38]
ChrX:66941699 [GRCh37]
ChrX:Xq12 |
pathogenic |
| AR, ARG846HIS |
variation |
Reifenstein syndrome [RCV000010517] |
ChrX:Xq11-q12 |
pathogenic |
| NM_000044.6(AR):c.1769-11T>A |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV000010518] |
ChrX:67685999 [GRCh38]
ChrX:66905841 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.521T>G (p.Leu174Ter) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV000010519] |
ChrX:67545667 [GRCh38]
ChrX:66765509 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2395C>G (p.Gln799Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001519068]|Male infertility [RCV003982835]|Malignant tumor of prostate [RCV002247311]|Partial androgen insensitivity syndrome [RCV000010520]|not provided [RCV000224621]|not specified [RCV003234899] |
ChrX:67721909 [GRCh38]
ChrX:66941751 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000044.6(AR):c.2423T>C (p.Met808Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV005222678]|Partial androgen insensitivity syndrome [RCV000010521]|not provided [RCV003133116] |
ChrX:67721937 [GRCh38]
ChrX:66941779 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.179dup (p.Gln61fs) |
duplication |
Androgen resistance syndrome [RCV000010522] |
ChrX:67545324..67545325 [GRCh38]
ChrX:66765166..66765167 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2180G>T (p.Arg727Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV003764545]|Malignant tumor of prostate [RCV002247312]|Prostate cancer susceptibility [RCV000010523] |
ChrX:67717484 [GRCh38]
ChrX:66937326 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6(AR):c.2667C>T (p.Ser889=) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010524]|Androgen resistance syndrome [RCV001059742]|not provided [RCV001785450] |
ChrX:67723745 [GRCh38]
ChrX:66943587 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2449+5G>T |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV000010525] |
ChrX:67721968 [GRCh38]
ChrX:66941810 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2137C>T (p.Leu713Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010526]|Androgen resistance syndrome [RCV005222679] |
ChrX:67711653 [GRCh38]
ChrX:66931495 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1732G>A (p.Gly578Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010527] |
ChrX:67643371 [GRCh38]
ChrX:66863213 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2596T>C (p.Ser866Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010528] |
ChrX:67722973 [GRCh38]
ChrX:66942815 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2069A>C (p.His690Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010530] |
ChrX:67711585 [GRCh38]
ChrX:66931427 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2231G>T (p.Gly744Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010532]|Androgen resistance syndrome [RCV001851781]|Partial androgen insensitivity syndrome [RCV000010531] |
ChrX:67717535 [GRCh38]
ChrX:66937377 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2231G>A (p.Gly744Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV000010533] |
ChrX:67717535 [GRCh38]
ChrX:66937377 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs) |
indel |
Androgen resistance syndrome [RCV000010534] |
ChrX:67717585..67717591 [GRCh38]
ChrX:66937427..66937433 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2222C>G (p.Ser741Cys) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV000010535] |
ChrX:67717526 [GRCh38]
ChrX:66937368 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1937C>A (p.Ala646Asp) |
single nucleotide variant |
AR-related disorder [RCV003924823]|Androgen resistance syndrome [RCV002512959]|Castleman-Kojima disease [RCV000824699]|Male infertility [RCV003982836]|Partial androgen insensitivity syndrome [RCV000010536]|not provided [RCV000995934]|not specified [RCV000613283] |
ChrX:67711453 [GRCh38]
ChrX:66931295 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign|uncertain significance |
| NM_000044.6(AR):c.2517C>T (p.Leu839=) |
single nucleotide variant |
Androgen resistance syndrome [RCV000551925] |
ChrX:67722894 [GRCh38]
ChrX:66942736 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2103G>T (p.Leu701Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV001376911] |
ChrX:67711619 [GRCh38]
ChrX:66931461 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| NM_000044.6(AR):c.2296G>A (p.Ala766Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000546202]|Androgen resistance syndrome [RCV000791383]|not provided [RCV001270001] |
ChrX:67717600 [GRCh38]
ChrX:66937442 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.749dup (p.Val251fs) |
duplication |
Androgen resistance syndrome [RCV000547141] |
ChrX:67545892..67545893 [GRCh38]
ChrX:66765734..66765735 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1440dup (p.Tyr481fs) |
duplication |
Androgen resistance syndrome [RCV000542858] |
ChrX:67546581..67546582 [GRCh38]
ChrX:66766423..66766424 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1443C>G (p.Tyr481Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000543473]|Androgen resistance syndrome [RCV001387509] |
ChrX:67546589 [GRCh38]
ChrX:66766431 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.268C>T (p.Gln90Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001384434] |
ChrX:67545414 [GRCh38]
ChrX:66765256 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1736G>C (p.Ser579Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000557358] |
ChrX:67643375 [GRCh38]
ChrX:66863217 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.1536G>A (p.Val512=) |
single nucleotide variant |
AR-related disorder [RCV003942790]|Androgen resistance syndrome [RCV000544808]|Inborn genetic diseases [RCV004023989]|not provided [RCV001644646] |
ChrX:67546682 [GRCh38]
ChrX:66766524 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1850T>C (p.Leu617Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV001377727] |
ChrX:67686091 [GRCh38]
ChrX:66905933 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup) |
microsatellite |
not provided [RCV001573984]|not specified [RCV001726223] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 |
copy number gain |
See cases [RCV000052415] |
ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1 |
pathogenic |
| GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 |
copy number gain |
See cases [RCV000052416] |
ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq12(chrX:67585642-68127021)x3 |
copy number gain |
See cases [RCV000054199] |
ChrX:67585642..68127021 [GRCh38]
ChrX:66805484..67346863 [GRCh37]
ChrX:66722209..67263588 [NCBI36]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2450-6C>G |
single nucleotide variant |
Androgen resistance syndrome [RCV000660882]|Androgen resistance syndrome [RCV003767919] |
ChrX:67722821 [GRCh38]
ChrX:66942663 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.631G>A (p.Ala211Thr) |
single nucleotide variant |
Kennedy disease [RCV001332125]|not provided [RCV002259390] |
ChrX:67545777 [GRCh38]
ChrX:66765619 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.4(AR):c.172_174(7_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGln) |
microsatellite |
Androgen resistance syndrome [RCV000143827] |
ChrX:67545318..67545320 [GRCh38]
ChrX:66765160..66765162 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6:c.1363GGT[2_4]GGC[12_29] |
microsatellite |
Androgen resistance syndrome [RCV000143828] |
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.639G>A (p.Glu213=) |
single nucleotide variant |
Androgen resistance syndrome [RCV000143829]|Androgen resistance syndrome [RCV001513221]|not provided [RCV001689677]|not specified [RCV000244696] |
ChrX:67545785 [GRCh38]
ChrX:66765627 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.172CAG[(38_?)] (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
Androgen resistance syndrome [RCV000143830] |
ChrX:67545318..67545320 [GRCh38]
ChrX:66765160..66765162 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 |
copy number gain |
See cases [RCV000134569] |
ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 |
copy number loss |
See cases [RCV000135306] |
ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 |
copy number loss |
See cases [RCV000137414] |
ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31 |
pathogenic |
| GRCh38/hg38 Xq12(chrX:67532311-68353901)x1 |
copy number loss |
See cases [RCV000140460] |
ChrX:67532311..68353901 [GRCh38]
ChrX:66752153..67573743 [GRCh37]
ChrX:66668878..67490468 [NCBI36]
ChrX:Xq12 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) |
copy number loss |
See cases [RCV000141742] |
ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24 |
pathogenic |
| GRCh38/hg38 Xq12(chrX:67713814-67811933)x2 |
copy number gain |
See cases [RCV000142321] |
ChrX:67713814..67811933 [GRCh38]
ChrX:66933656..67031775 [GRCh37]
ChrX:66850381..66948500 [NCBI36]
ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 |
copy number gain |
See cases [RCV000142336] |
ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq12(chrX:67676484-68288063)x4 |
copy number gain |
See cases [RCV000143361] |
ChrX:67676484..68288063 [GRCh38]
ChrX:66896326..67507905 [GRCh37]
ChrX:66813051..67424630 [NCBI36]
ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 |
copy number loss |
See cases [RCV000143131] |
ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3 |
pathogenic |
| GRCh38/hg38 Xq12(chrX:67033673-67862682)x2 |
copy number gain |
See cases [RCV000143157] |
ChrX:67033673..67862682 [GRCh38]
ChrX:66253515..67082524 [GRCh37]
ChrX:66170240..66999249 [NCBI36]
ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NM_000044.6(AR):c.2659A>G (p.Met887Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV001518328]|Inborn genetic diseases [RCV000623126]|not provided [RCV000399756]|not specified [RCV003330619] |
ChrX:67723737 [GRCh38]
ChrX:66943579 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.1174C>T (p.Pro392Ser) |
single nucleotide variant |
AR-related disorder [RCV003927863]|Androgen resistance syndrome [RCV000990850]|Androgen resistance syndrome [RCV001516905]|Androgen resistance syndrome [RCV002221510]|Hypospadias 1, X-linked [RCV000627669]|Partial androgen insensitivity syndrome [RCV000196772]|not provided [RCV001269900]|not specified [RCV000499525] |
ChrX:67546320 [GRCh38]
ChrX:66766162 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV000538518]|not provided [RCV000514680]|not specified [RCV000194669] |
ChrX:67545317..67545325 [GRCh38]
ChrX:66765159..66765167 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.1847G>A (p.Arg616His) |
single nucleotide variant |
Androgen resistance syndrome [RCV000532795]|Partial androgen insensitivity syndrome [RCV004720249]|not provided [RCV000288478] |
ChrX:67686088 [GRCh38]
ChrX:66905930 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_000044.6(AR):c.1685T>C (p.Ile562Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000258807] |
ChrX:67643324 [GRCh38]
ChrX:66863166 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2105T>A (p.Leu702His) |
single nucleotide variant |
Malignant tumor of prostate [RCV000204071] |
ChrX:67711621 [GRCh38]
ChrX:66931463 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000554482] |
ChrX:67686046 [GRCh38]
ChrX:66905888 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) |
microsatellite |
Androgen resistance syndrome [RCV000550088]|not provided [RCV001357490]|not specified [RCV003323601] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1804T>G (p.Cys602Gly) |
single nucleotide variant |
not provided [RCV000224290] |
ChrX:67686045 [GRCh38]
ChrX:66905887 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xq12(chrX:66905875-67475065)x3 |
copy number gain |
Premature ovarian failure [RCV000225139] |
ChrX:66905875..67475065 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del) |
microsatellite |
AR-related disorder [RCV003935711]|Androgen resistance syndrome [RCV002476366]|not provided [RCV003326475]|not specified [RCV000605050] |
ChrX:67545317..67545343 [GRCh38]
ChrX:66765159..66765185 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3 |
copy number gain |
See cases [RCV000239973] |
ChrX:64927267..69276852 [GRCh37]
ChrX:Xq12-13.1 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 |
copy number gain |
See cases [RCV000239889] |
ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12 |
pathogenic |
| NM_000044.6(AR):c.949A>G (p.Thr317Ala) |
single nucleotide variant |
Androgen resistance syndrome [RCV000559414] |
ChrX:67546095 [GRCh38]
ChrX:66765937 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 |
copy number loss |
See cases [RCV000511311] |
ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1 |
pathogenic |
| NM_000044.6(AR):c.2567G>T (p.Arg856Leu) |
single nucleotide variant |
not provided [RCV000349225] |
ChrX:67722944 [GRCh38]
ChrX:66942786 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.2257C>T (p.Arg753Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000640477]|Androgen resistance syndrome [RCV001848042]|not provided [RCV000255883] |
ChrX:67717561 [GRCh38]
ChrX:66937403 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xq12(chrX:65813415-66955639)x2 |
copy number gain |
See cases [RCV000240497] |
ChrX:65813415..66955639 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NM_000044.4(AR):c.639G>A (p.Glu213=) |
single nucleotide variant |
not specified [RCV000244696] |
ChrX:67545785 [GRCh38]
ChrX:66765627 [GRCh37]
ChrX:Xq12 |
benign |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.1746C>T (p.Val582=) |
single nucleotide variant |
Androgen resistance syndrome [RCV002057278]|not specified [RCV000247741] |
ChrX:67643385 [GRCh38]
ChrX:66863227 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1886-60G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV000990852]|not provided [RCV004713428]|not specified [RCV000252689] |
ChrX:67711342 [GRCh38]
ChrX:66931184 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) |
microsatellite |
Androgen resistance syndrome [RCV002059289]|Partial androgen insensitivity syndrome [RCV003993919]|not provided [RCV001572937]|not specified [RCV000372316] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign |
| NM_000044.6(AR):c.1822C>T (p.Arg608Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001859531]|not provided [RCV000272791] |
ChrX:67686063 [GRCh38]
ChrX:66905905 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2668G>A (p.Val890Met) |
single nucleotide variant |
Androgen resistance syndrome [RCV000582566]|Androgen resistance syndrome [RCV000696602]|not provided [RCV000280545] |
ChrX:67723746 [GRCh38]
ChrX:66943588 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2566C>T (p.Arg856Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV000584628]|Androgen resistance syndrome [RCV003765576]|not provided [RCV000294192] |
ChrX:67722943 [GRCh38]
ChrX:66942785 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.220C>T (p.Gln74Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583276]|not provided [RCV000328403] |
ChrX:67545366 [GRCh38]
ChrX:66765208 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1886-1G>A |
single nucleotide variant |
not provided [RCV000334211] |
ChrX:67711401 [GRCh38]
ChrX:66931243 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2301del (p.Asp768fs) |
deletion |
Androgen resistance syndrome [RCV001787093]|Androgen resistance syndrome [RCV005222863]|not provided [RCV000388594] |
ChrX:67717605 [GRCh38]
ChrX:66937447 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2314A>C (p.Asn772His) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV001175283]|not provided [RCV000263998] |
ChrX:67717618 [GRCh38]
ChrX:66937460 [GRCh37]
ChrX:Xq12 |
pathogenic|not provided |
| NM_000044.6(AR):c.1888C>T (p.Arg630Trp) |
single nucleotide variant |
not provided [RCV000489065] |
ChrX:67711404 [GRCh38]
ChrX:66931246 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1181_1200dup (p.Ala401fs) |
duplication |
Androgen resistance syndrome [RCV002283648] |
ChrX:67546325..67546326 [GRCh38]
ChrX:66766167..66766168 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25 |
uncertain significance |
| NM_000044.6(AR):c.1462C>T (p.Gln488Ter) |
single nucleotide variant |
Pure gonadal dysgenesis 46,XY [RCV003492240]|not provided [RCV001269599] |
ChrX:67546608 [GRCh38]
ChrX:66766450 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1833T>A (p.Asn611Lys) |
single nucleotide variant |
not provided [RCV001269573] |
ChrX:67686074 [GRCh38]
ChrX:66905916 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.202C>T (p.Gln68Ter) |
single nucleotide variant |
not provided [RCV001269783] |
ChrX:67545348 [GRCh38]
ChrX:66765190 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2248A>G (p.Met750Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003766746]|not provided [RCV000488944] |
ChrX:67717552 [GRCh38]
ChrX:66937394 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1693G>C (p.Asp565His) |
single nucleotide variant |
Androgen resistance syndrome [RCV003314436] |
ChrX:67643332 [GRCh38]
ChrX:66863174 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1768+2T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV000583701]|Partial androgen insensitivity syndrome [RCV000517655]|not provided [RCV003151078] |
ChrX:67643409 [GRCh38]
ChrX:66863251 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.214C>T (p.Gln72Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583962] |
ChrX:67545360 [GRCh38]
ChrX:66765202 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2299C>G (p.Pro767Ala) |
single nucleotide variant |
Androgen resistance syndrome [RCV000584020]|not provided [RCV001269864] |
ChrX:67717603 [GRCh38]
ChrX:66937445 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1605C>A (p.Tyr535Ter) |
single nucleotide variant |
not provided [RCV000578511] |
ChrX:67546751 [GRCh38]
ChrX:66766593 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1739G>A (p.Cys580Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000582429] |
ChrX:67643378 [GRCh38]
ChrX:66863220 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2683ATG[1] (p.Met896del) |
microsatellite |
Androgen resistance syndrome [RCV000584242] |
ChrX:67723761..67723763 [GRCh38]
ChrX:66943603..66943605 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.20_138dup (p.Ala47delinsTrpGluGlySerThrLeuGlyArgArgProArgProThrGluGluLeuSerArgIleCysSerArgAlaCysAlaLysTer) |
duplication |
not provided [RCV000599127] |
ChrX:67545163..67545164 [GRCh38]
ChrX:66765005..66765006 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2104C>T (p.Leu702Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV000582497] |
ChrX:67711620 [GRCh38]
ChrX:66931462 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2171C>T (p.Pro724Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV000582655] |
ChrX:67711687 [GRCh38]
ChrX:66931529 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1688G>A (p.Cys563Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000584351] |
ChrX:67643327 [GRCh38]
ChrX:66863169 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2612C>T (p.Ala871Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV000582850]|Androgen resistance syndrome [RCV000687621]|Hypospadias 1, X-linked [RCV003222053]|not provided [RCV001200503] |
ChrX:67723690 [GRCh38]
ChrX:66943532 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2343G>A (p.Met781Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV000584561]|not provided [RCV004760636] |
ChrX:67721857 [GRCh38]
ChrX:66941699 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1814A>G (p.Asp605Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV000584497]|Androgen resistance syndrome [RCV002530822] |
ChrX:67686055 [GRCh38]
ChrX:66905897 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.796dup (p.Asp266fs) |
duplication |
Androgen resistance syndrome [RCV000584652] |
ChrX:67545936..67545937 [GRCh38]
ChrX:66765778..66765779 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.692_696dup (p.Ser233fs) |
duplication |
not provided [RCV000599146] |
ChrX:67545837..67545838 [GRCh38]
ChrX:66765679..66765680 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.743G>T (p.Gly248Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV000582975] |
ChrX:67545889 [GRCh38]
ChrX:66765731 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2086G>A (p.Asp696Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV000581269]|Androgen resistance syndrome [RCV001853948]|Inborn genetic diseases [RCV004955669]|not provided [RCV003236821] |
ChrX:67711602 [GRCh38]
ChrX:66931444 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2633C>T (p.Thr878Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV000581272] |
ChrX:67723711 [GRCh38]
ChrX:66943553 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1185C>A (p.Tyr395Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583130]|not provided [RCV001552216] |
ChrX:67546331 [GRCh38]
ChrX:66766173 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2512G>A (p.Glu838Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583039] |
ChrX:67722889 [GRCh38]
ChrX:66942731 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2155T>C (p.Trp719Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV000581364] |
ChrX:67711671 [GRCh38]
ChrX:66931513 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2562_2563del (p.Arg855fs) |
deletion |
Androgen resistance syndrome [RCV000583403] |
ChrX:67722939..67722940 [GRCh38]
ChrX:66942781..66942782 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.217C>T (p.Gln73Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000581586]|Androgen resistance syndrome [RCV005223013] |
ChrX:67545363 [GRCh38]
ChrX:66765205 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2593G>A (p.Asp865Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583496] |
ChrX:67722970 [GRCh38]
ChrX:66942812 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1383C>T (p.Gly461=) |
single nucleotide variant |
Androgen resistance syndrome [RCV001447409]|not provided [RCV004704106]|not specified [RCV000605223] |
ChrX:67546529 [GRCh38]
ChrX:66766371 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.475G>A (p.Ala159Thr) |
single nucleotide variant |
AR-related disorder [RCV004754481]|Androgen resistance syndrome [RCV000581733]|Androgen resistance syndrome [RCV003767317]|Male infertility [RCV003983133]|not specified [RCV004586808] |
ChrX:67545621 [GRCh38]
ChrX:66765463 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|benign|uncertain significance |
| NM_000044.6(AR):c.2309T>G (p.Val770Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV000581646] |
ChrX:67717613 [GRCh38]
ChrX:66937455 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2437C>T (p.Leu813Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV000581776]|Androgen resistance syndrome [RCV000813385] |
ChrX:67721951 [GRCh38]
ChrX:66941793 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.1153G>T (p.Ala385Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV000581819]|Androgen resistance syndrome [RCV002497229] |
ChrX:67546299 [GRCh38]
ChrX:66766141 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2720_2721del (p.Ile907fs) |
deletion |
Androgen resistance syndrome [RCV000581866] |
ChrX:67723798..67723799 [GRCh38]
ChrX:66943640..66943641 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2117A>G (p.Asn706Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583716]|Androgen resistance syndrome [RCV001860107]|not provided [RCV001269927] |
ChrX:67711633 [GRCh38]
ChrX:66931475 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2613del (p.Arg872fs) |
deletion |
Androgen resistance syndrome [RCV000583629] |
ChrX:67723691 [GRCh38]
ChrX:66943533 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2342T>A (p.Met781Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV001169865] |
ChrX:67721856 [GRCh38]
ChrX:66941698 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2266del (p.Thr756fs) |
deletion |
Androgen resistance syndrome [RCV000581949] |
ChrX:67717570 [GRCh38]
ChrX:66937412 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2044G>A (p.Glu682Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583799] |
ChrX:67711560 [GRCh38]
ChrX:66931402 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2258G>A (p.Arg753Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV000583865]|Androgen resistance syndrome [RCV005223014] |
ChrX:67717562 [GRCh38]
ChrX:66937404 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.1888del (p.Arg630fs) |
deletion |
Androgen resistance syndrome [RCV000582115] |
ChrX:67711402 [GRCh38]
ChrX:66931244 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV000526224]|not provided [RCV001597163]|not specified [RCV001702675] |
ChrX:67545317..67545328 [GRCh38]
ChrX:66765159..66765170 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6(AR):c.2495G>A (p.Arg832Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV000528841]|Androgen resistance syndrome [RCV002272280]|not provided [RCV001200502] |
ChrX:67722872 [GRCh38]
ChrX:66942714 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup) |
microsatellite |
Androgen resistance syndrome [RCV000530276]|Partial androgen insensitivity syndrome [RCV003994005]|not provided [RCV001672834] |
ChrX:67546514..67546515 [GRCh38]
ChrX:66766356..66766357 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2359C>T (p.Arg787Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000534959]|Androgen resistance syndrome [RCV004719853]|not provided [RCV001821511] |
ChrX:67721873 [GRCh38]
ChrX:66941715 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1616+3A>C |
single nucleotide variant |
not provided [RCV000412712] |
ChrX:67546765 [GRCh38]
ChrX:66766607 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.865G>T (p.Glu289Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000415036] |
ChrX:67546011 [GRCh38]
ChrX:66765853 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2039_2056del (p.Ala680_Val685del) |
deletion |
not provided [RCV000414028] |
ChrX:67711553..67711570 [GRCh38]
ChrX:66931395..66931412 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.2137C>A (p.Leu713Ile) |
single nucleotide variant |
not provided [RCV000444076] |
ChrX:67711653 [GRCh38]
ChrX:66931495 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.2438T>C (p.Leu813Pro) |
single nucleotide variant |
not provided [RCV000522903] |
ChrX:67721952 [GRCh38]
ChrX:66941794 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1720G>C (p.Ala574Pro) |
single nucleotide variant |
not provided [RCV000431825] |
ChrX:67643359 [GRCh38]
ChrX:66863201 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2258G>T (p.Arg753Leu) |
single nucleotide variant |
not provided [RCV000432265] |
ChrX:67717562 [GRCh38]
ChrX:66937404 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2629T>C (p.Phe877Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV003766181] |
ChrX:67723707 [GRCh38]
ChrX:66943549 [GRCh37]
ChrX:Xq12 |
uncertain significance|not provided |
| NM_000044.6(AR):c.654C>T (p.Pro218=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003766196]|not specified [RCV000437271] |
ChrX:67545800 [GRCh38]
ChrX:66765642 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2504A>G (p.Tyr835Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV005222926]|not provided [RCV000441243] |
ChrX:67722881 [GRCh38]
ChrX:66942723 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del) |
microsatellite |
Kennedy disease [RCV000481576] |
ChrX:67545318..67545320 [GRCh38]
ChrX:66765160..66765162 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2740C>A (p.Pro914Thr) |
single nucleotide variant |
not provided [RCV000481757] |
ChrX:67723818 [GRCh38]
ChrX:66943660 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2297C>A (p.Ala766Asp) |
single nucleotide variant |
not provided [RCV000481893] |
ChrX:67717601 [GRCh38]
ChrX:66937443 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2420G>A (p.Cys807Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV001056954]|not provided [RCV000482241] |
ChrX:67721934 [GRCh38]
ChrX:66941776 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.2450-1G>A |
single nucleotide variant |
not provided [RCV000482716] |
ChrX:67722826 [GRCh38]
ChrX:66942668 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1952del (p.Ser651fs) |
deletion |
not provided [RCV000482936] |
ChrX:67711468 [GRCh38]
ChrX:66931310 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
Kennedy disease [RCV000483474] |
ChrX:67545318..67545320 [GRCh38]
ChrX:66765160..66765162 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.173A>T (p.Gln58Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV000766100]|Androgen resistance syndrome [RCV004796181]|Male infertility [RCV003983052]|not provided [RCV004696189]|not specified [RCV000455544] |
ChrX:67545319 [GRCh38]
ChrX:66765161 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup) |
microsatellite |
AR-related disorder [RCV004754448]|Androgen resistance syndrome [RCV002506157]|Kennedy disease [RCV000485802] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) |
microsatellite |
Androgen resistance syndrome [RCV000550433]|Androgen resistance syndrome [RCV002496873]|Inborn genetic diseases [RCV004659060]|not provided [RCV001722406] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
Kennedy disease [RCV000479388] |
ChrX:67545318..67545320 [GRCh38]
ChrX:66765160..66765162 [GRCh37]
ChrX:Xq12 |
risk factor |
| NM_000044.6(AR):c.171GCA[33] (p.Gln71_Gln80dup) |
microsatellite |
Androgen resistance syndrome [RCV005222959]|not provided [RCV001704609] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV001515621]|not provided [RCV001721554]|not specified [RCV000478989] |
ChrX:67545317..67545334 [GRCh38]
ChrX:66765159..66765176 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1370GCG[12] (p.Gly469_Gly473del) |
microsatellite |
AR-related disorder [RCV003932815]|Androgen resistance syndrome [RCV001394389]|not provided [RCV001764481]|not specified [RCV000501096] |
ChrX:67546515..67546529 [GRCh38]
ChrX:66766357..66766371 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV001515620]|not provided [RCV001537809]|not specified [RCV000501130] |
ChrX:67545317..67545337 [GRCh38]
ChrX:66765159..66765179 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del) |
microsatellite |
Androgen resistance syndrome [RCV000529481]|not provided [RCV001672808]|not specified [RCV000501323] |
ChrX:67546515..67546523 [GRCh38]
ChrX:66766357..66766365 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2090C>A (p.Ser697Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000501357] |
ChrX:67711606 [GRCh38]
ChrX:66931448 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.177_178insGCAGCAGCAGCA (p.Gln59_Gln60insAlaAlaAlaAla) |
insertion |
not specified [RCV000503649] |
ChrX:67545323..67545324 [GRCh38]
ChrX:66765165..66765166 [GRCh37]
ChrX:Xq12 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.421G>A (p.Ala141Thr) |
single nucleotide variant |
not specified [RCV000504458] |
ChrX:67545567 [GRCh38]
ChrX:66765409 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1846C>T (p.Arg616Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV000499725]|Androgen resistance syndrome [RCV005222977] |
ChrX:67686087 [GRCh38]
ChrX:66905929 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.1370GCG[15] (p.Gly472_Gly473del) |
microsatellite |
AR-related disorder [RCV003915361]|Androgen resistance syndrome [RCV001499163]|not provided [RCV000546357]|not specified [RCV000502080] |
ChrX:67546515..67546520 [GRCh38]
ChrX:66766357..66766362 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) |
microsatellite |
Androgen resistance syndrome [RCV001088480]|not provided [RCV000539588]|not specified [RCV000502054] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign |
| NM_000044.6(AR):c.1379_1380insGCG (p.Gly460_Gly461insArg) |
insertion |
not specified [RCV000504486] |
ChrX:67546524..67546525 [GRCh38]
ChrX:66766366..66766367 [GRCh37]
ChrX:Xq12 |
benign |
| GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23 |
pathogenic |
| NM_000044.6(AR):c.183_184insGCAGCA (p.Gln61_Gln62insAlaAla) |
insertion |
not specified [RCV000500271] |
ChrX:67545329..67545330 [GRCh38]
ChrX:66765171..66765172 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV000534320]|Androgen resistance syndrome [RCV002481607]|not provided [RCV001662489]|not specified [RCV000502496] |
ChrX:67545317..67545331 [GRCh38]
ChrX:66765159..66765173 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1139C>G (p.Pro380Arg) |
single nucleotide variant |
AR-related disorder [RCV003932816]|Androgen resistance syndrome [RCV002060099]|not provided [RCV001865599]|not specified [RCV000502913] |
ChrX:67546285 [GRCh38]
ChrX:66766127 [GRCh37]
ChrX:Xq12 |
benign|likely benign|uncertain significance |
| NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) |
microsatellite |
AR-related disorder [RCV003915362]|Androgen resistance syndrome [RCV002060100]|Androgen resistance syndrome [RCV002476001]|not provided [RCV000995930]|not specified [RCV000503107] |
ChrX:67546514..67546515 [GRCh38]
ChrX:66766356..66766357 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2451T>C (p.Ile817=) |
single nucleotide variant |
not specified [RCV000503141] |
ChrX:67722828 [GRCh38]
ChrX:66942670 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.2668G>C (p.Val890Leu) |
single nucleotide variant |
not provided [RCV000494256] |
ChrX:67723746 [GRCh38]
ChrX:66943588 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2228T>A (p.Met743Lys) |
single nucleotide variant |
not provided [RCV000494389] |
ChrX:67717532 [GRCh38]
ChrX:66937374 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1022_1025dup (p.Ser343fs) |
duplication |
not provided [RCV000494507] |
ChrX:67546166..67546167 [GRCh38]
ChrX:66766008..66766009 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.393C>A (p.Cys131Ter) |
single nucleotide variant |
not provided [RCV000494531] |
ChrX:67545539 [GRCh38]
ChrX:66765381 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.2723T>A (p.Leu908His) |
single nucleotide variant |
not provided [RCV000493011] |
ChrX:67723801 [GRCh38]
ChrX:66943643 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq12(chrX:66911026-67265082)x3 |
copy number gain |
See cases [RCV000510847] |
ChrX:66911026..67265082 [GRCh37]
ChrX:Xq12 |
benign |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup) |
microsatellite |
Androgen resistance syndrome [RCV001516351]|not specified [RCV000600941] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.171GCA[22] (p.Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV002497124]|Androgen resistance syndrome [RCV005208579]|not provided [RCV001536189]|not specified [RCV001702797] |
ChrX:67545317..67545319 [GRCh38]
ChrX:66765159..66765161 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6(AR):c.292C>T (p.Gln98Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000529989] |
ChrX:67545438 [GRCh38]
ChrX:66765280 [GRCh37]
ChrX:Xq12 |
pathogenic |
| Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_000044.6(AR):c.1331G>C (p.Gly444Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003299626] |
ChrX:67546477 [GRCh38]
ChrX:66766319 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1513C>A (p.Pro505Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000625844]|Male infertility [RCV003983149] |
ChrX:67546659 [GRCh38]
ChrX:66766501 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2176T>C (p.Phe726Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV000535980] |
ChrX:67717480 [GRCh38]
ChrX:66937322 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NC_000023.11:g.(?_67686010)_(67686126_?)del |
deletion |
Androgen resistance syndrome [RCV000540902] |
ChrX:67686010..67686126 [GRCh38]
ChrX:66905852..66905968 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.866A>G (p.Glu289Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003270724] |
ChrX:67546012 [GRCh38]
ChrX:66765854 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1787G>A (p.Cys596Tyr) |
single nucleotide variant |
not provided [RCV003318160] |
ChrX:67686028 [GRCh38]
ChrX:66905870 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1705G>T (p.Gly569Trp) |
single nucleotide variant |
Androgen resistance syndrome [RCV000640476] |
ChrX:67643344 [GRCh38]
ChrX:66863186 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV000537021] |
ChrX:67546588 [GRCh38]
ChrX:66766430 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2121A>C (p.Glu707Asp) |
single nucleotide variant |
Androgen resistance syndrome [RCV000537801] |
ChrX:67711637 [GRCh38]
ChrX:66931479 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.4(AR):c.1372_1383delGGCGGCGGCGGC (p.Gly470_Gly473del) |
deletion |
not provided [RCV000514437] |
ChrX:67546518..67546529 [GRCh38]
ChrX:66766360..66766371 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV000640479]|not provided [RCV001591427] |
ChrX:67545317..67545340 [GRCh38]
ChrX:66765159..66765182 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.171GCA[12] (p.Gln70_Gln80del) |
microsatellite |
AR-related disorder [RCV004754501]|not provided [RCV001697487] |
ChrX:67545317..67545349 [GRCh38]
ChrX:66765159..66765191 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) |
microsatellite |
Androgen resistance syndrome [RCV001421005]|Androgen resistance syndrome [RCV005208578]|not provided [RCV000514437]|not specified [RCV001821543] |
ChrX:67546515..67546526 [GRCh38]
ChrX:66766357..66766368 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1616+18G>A |
single nucleotide variant |
not specified [RCV000614033] |
ChrX:67546780 [GRCh38]
ChrX:66766622 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.229C>T (p.Gln77Ter) |
single nucleotide variant |
Aplasia of the uterus [RCV000626572] |
ChrX:67545375 [GRCh38]
ChrX:66765217 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1025C>A (p.Pro342Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003252032] |
ChrX:67546171 [GRCh38]
ChrX:66766013 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1418G>A (p.Gly473Asp) |
single nucleotide variant |
not specified [RCV000608914] |
ChrX:67546564 [GRCh38]
ChrX:66766406 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup) |
microsatellite |
AR-related disorder [RCV003915771]|Androgen resistance syndrome [RCV001516350]|not provided [RCV001697340] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2317G>A (p.Glu773Lys) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV003238162] |
ChrX:67717621 [GRCh38]
ChrX:66937463 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3 |
pathogenic |
| GRCh37/hg19 Xq12(chrX:66911061-67031775)x2 |
copy number gain |
See cases [RCV000512221] |
ChrX:66911061..67031775 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2053G>A (p.Val685Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV000640475] |
ChrX:67711569 [GRCh38]
ChrX:66931411 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.636G>A (p.Arg212=) |
single nucleotide variant |
Androgen resistance syndrome [RCV000640480]|not provided [RCV001619819]|not specified [RCV001727786] |
ChrX:67545782 [GRCh38]
ChrX:66765624 [GRCh37]
ChrX:Xq12 |
benign |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000044.6(AR):c.1275G>C (p.Gly425=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790785] |
ChrX:67546421 [GRCh38]
ChrX:66766263 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1179G>A (p.Leu393=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790996] |
ChrX:67546325 [GRCh38]
ChrX:66766167 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1370GCG[7] (p.Gly464_Gly473del) |
microsatellite |
AR-related disorder [RCV003918153]|Androgen resistance syndrome [RCV000714862] |
ChrX:67546515..67546544 [GRCh38]
ChrX:66766357..66766386 [GRCh37]
ChrX:Xq12 |
likely benign|uncertain significance |
| Single allele |
duplication |
not provided [RCV000677981] |
ChrX:65813415..66955639 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31 |
pathogenic |
| NM_000044.6(AR):c.830_845dup (p.Pro283fs) |
duplication |
Androgen resistance syndrome [RCV000700147] |
ChrX:67545971..67545972 [GRCh38]
ChrX:66765813..66765814 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1451_1454del (p.Thr484fs) |
deletion |
Androgen resistance syndrome [RCV000701672] |
ChrX:67546597..67546600 [GRCh38]
ChrX:66766439..66766442 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2318+1G>C |
single nucleotide variant |
Androgen resistance syndrome [RCV000704129] |
ChrX:67717623 [GRCh38]
ChrX:66937465 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1614dup (p.Arg539fs) |
duplication |
Androgen resistance syndrome [RCV000702048] |
ChrX:67546759..67546760 [GRCh38]
ChrX:66766601..66766602 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) |
indel |
Androgen resistance syndrome [RCV000705046] |
ChrX:67545341..67545345 [GRCh38]
ChrX:66765183..66765187 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.271C>T (p.Gln91Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000697147] |
ChrX:67545417 [GRCh38]
ChrX:66765259 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1370GCG[5] (p.Gly462_Gly473del) |
microsatellite |
AR-related disorder [RCV003420275]|Androgen insensitivity, partial, with breast cancer [RCV000714761]|Androgen resistance syndrome [RCV000714763]|Hypospadias 1, X-linked [RCV000714762] |
ChrX:67546515..67546550 [GRCh38]
ChrX:66766357..66766392 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
uncertain significance |
| GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 |
copy number loss |
not provided [RCV000753535] |
ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| NM_000044.6(AR):c.2255G>C (p.Trp752Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001533213] |
ChrX:67717559 [GRCh38]
ChrX:66937401 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1792A>G (p.Ser598Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV002538523]|Male infertility [RCV003984021]|Malignant tumor of prostate [RCV002246448]|Non-obstructive azoospermia [RCV001648499] |
ChrX:67686033 [GRCh38]
ChrX:66905875 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6(AR):c.231_232insGCAGCAGCA (p.Gln77_Gln78insAlaAlaAla) |
insertion |
not provided [RCV001666469] |
ChrX:67545377..67545378 [GRCh38]
ChrX:66765219..66765220 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2318+285A>G |
single nucleotide variant |
not provided [RCV001709292] |
ChrX:67717907 [GRCh38]
ChrX:66937749 [GRCh37]
ChrX:Xq12 |
benign |
| NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3 |
pathogenic |
| NM_000044.6(AR):c.2270A>G (p.Asn757Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV004587483]|Androgen resistance syndrome [RCV005051283]|Androgen resistance syndrome [RCV005216043]|Male infertility [RCV003984357]|not provided [RCV003314884] |
ChrX:67717574 [GRCh38]
ChrX:66937416 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.1424C>T (p.Ala475Val) |
single nucleotide variant |
AR-related disorder [RCV003918617]|Androgen resistance syndrome [RCV000990851]|Androgen resistance syndrome [RCV001858727]|Androgen resistance syndrome [RCV005047165]|Male infertility [RCV003983811]|not provided [RCV001356855]|not specified [RCV001702761] |
ChrX:67546570 [GRCh38]
ChrX:66766412 [GRCh37]
ChrX:Xq12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000044.6(AR):c.1616+22453G>T |
single nucleotide variant |
not provided [RCV001568151] |
ChrX:67569215 [GRCh38]
ChrX:66789057 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup) |
microsatellite |
Androgen resistance syndrome [RCV002495880]|not provided [RCV001549843] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.725C>T (p.Ala242Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV001058673] |
ChrX:67545871 [GRCh38]
ChrX:66765713 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.5A>G (p.Glu2Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV001056718] |
ChrX:67545151 [GRCh38]
ChrX:66764993 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) |
single nucleotide variant |
AR-related disorder [RCV003396726]|Androgen resistance syndrome [RCV001070365]|Androgen resistance syndrome [RCV003142027] |
ChrX:67643354 [GRCh38]
ChrX:66863196 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.796G>C (p.Asp266His) |
single nucleotide variant |
Inborn genetic diseases [RCV003267202] |
ChrX:67545942 [GRCh38]
ChrX:66765784 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1724_1725del (p.Leu575fs) |
microsatellite |
Androgen resistance syndrome [RCV000815852] |
ChrX:67643360..67643361 [GRCh38]
ChrX:66863202..66863203 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.756_765del (p.Glu252fs) |
deletion |
Androgen resistance syndrome [RCV000798376] |
ChrX:67545902..67545911 [GRCh38]
ChrX:66765744..66765753 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1897A>T (p.Lys633Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV000806051] |
ChrX:67711413 [GRCh38]
ChrX:66931255 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2752del (p.His918fs) |
deletion |
Androgen resistance syndrome [RCV000796043] |
ChrX:67723829 [GRCh38]
ChrX:66943671 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2160del (p.Lys721fs) |
deletion |
Androgen resistance syndrome [RCV000991197] |
ChrX:67711675 [GRCh38]
ChrX:66931517 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2678C>T (p.Pro893Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV000810850]|not provided [RCV001785728] |
ChrX:67723756 [GRCh38]
ChrX:66943598 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NC_000023.10:g.(?_66863078)_(66905988_?)dup |
duplication |
Androgen resistance syndrome [RCV000805909] |
ChrX:67643236..67686146 [GRCh38]
ChrX:66863078..66905988 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2678C>A (p.Pro893Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV000802143] |
ChrX:67723756 [GRCh38]
ChrX:66943598 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2546dup (p.Asn849fs) |
duplication |
Androgen resistance syndrome [RCV000804161] |
ChrX:67722917..67722918 [GRCh38]
ChrX:66942759..66942760 [GRCh37]
ChrX:Xq12 |
pathogenic |
| 46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated circulating creatine kinase concentration [RCV000856573] |
ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3 |
likely pathogenic |
| NM_000044.6(AR):c.2068C>A (p.His690Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV000815685] |
ChrX:67711584 [GRCh38]
ChrX:66931426 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2239G>A (p.Val747Met) |
single nucleotide variant |
Androgen resistance syndrome [RCV000815871]|not provided [RCV004720004] |
ChrX:67717543 [GRCh38]
ChrX:66937385 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1 |
copy number loss |
not provided [RCV000849932] |
ChrX:61882086..69173640 [GRCh37]
ChrX:Xq11.1-13.1 |
pathogenic |
| NM_000044.6(AR):c.2021T>C (p.Phe674Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV000817966] |
ChrX:67711537 [GRCh38]
ChrX:66931379 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.1844G>C (p.Cys615Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV000809289] |
ChrX:67686085 [GRCh38]
ChrX:66905927 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2528T>C (p.Ile843Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV000814876]|Androgen resistance syndrome [RCV001568311]|Partial androgen insensitivity syndrome [RCV004789218] |
ChrX:67722905 [GRCh38]
ChrX:66942747 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1370GCG[20] (p.Gly471_Gly473dup) |
microsatellite |
AR-related disorder [RCV003918268]|Androgen resistance syndrome [RCV000791031]|not provided [RCV000995931] |
ChrX:67546514..67546515 [GRCh38]
ChrX:66766356..66766357 [GRCh37]
ChrX:Xq12 |
benign|likely benign|uncertain significance |
| NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter) |
insertion |
Androgen resistance syndrome [RCV000796993] |
ChrX:67545318..67545319 [GRCh38]
ChrX:66765160..66765161 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1314_1315del (p.Phe439fs) |
microsatellite |
Androgen resistance syndrome [RCV000800702] |
ChrX:67546456..67546457 [GRCh38]
ChrX:66766298..66766299 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.935del (p.Phe312fs) |
deletion |
not provided [RCV001009112] |
ChrX:67546079 [GRCh38]
ChrX:66765921 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32 |
pathogenic |
| NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) |
microsatellite |
Androgen resistance syndrome [RCV001231121]|Androgen resistance syndrome [RCV004800738]|Inborn genetic diseases [RCV004033116]|Malignant tumor of prostate [RCV002249821] |
ChrX:67545306..67545307 [GRCh38]
ChrX:66765148..66765149 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.416dup (p.Ala140fs) |
duplication |
not provided [RCV001009243] |
ChrX:67545561..67545562 [GRCh38]
ChrX:66765403..66765404 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1704_1705delinsCT (p.Gly569Trp) |
indel |
Androgen resistance syndrome [RCV001219621] |
ChrX:67643343..67643344 [GRCh38]
ChrX:66863185..66863186 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2128G>A (p.Glu710Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV001208881] |
ChrX:67711644 [GRCh38]
ChrX:66931486 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2236A>T (p.Met746Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001241241] |
ChrX:67717540 [GRCh38]
ChrX:66937382 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2283G>T (p.Arg761Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001227160]|not provided [RCV004546621] |
ChrX:67717587 [GRCh38]
ChrX:66937429 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2566C>A (p.Arg856Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001223380]|not provided [RCV001567879] |
ChrX:67722943 [GRCh38]
ChrX:66942785 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.528C>A (p.Ser176Arg) |
single nucleotide variant |
AR-related disorder [RCV003936248]|Androgen resistance syndrome [RCV000990849]|Androgen resistance syndrome [RCV002497284]|Androgen resistance syndrome [RCV003769306]|not provided [RCV003438648] |
ChrX:67545674 [GRCh38]
ChrX:66765516 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.188A>T (p.Gln63Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001863132]|Malignant tumor of prostate [RCV001198768]|not provided [RCV004695145] |
ChrX:67545334 [GRCh38]
ChrX:66765176 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1885+3718A>G |
single nucleotide variant |
Malignant tumor of prostate [RCV001198287] |
ChrX:67689844 [GRCh38]
ChrX:66909686 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.161TGC[3] (p.Leu57del) |
microsatellite |
AR-related disorder [RCV004731077]|Androgen resistance syndrome [RCV002067612]|not provided [RCV000995927] |
ChrX:67545307..67545309 [GRCh38]
ChrX:66765149..66765151 [GRCh37]
ChrX:Xq12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000044.6(AR):c.170_184del (p.Leu57_Gln61del) |
deletion |
AR-related disorder [RCV003934293] |
ChrX:67545314..67545328 [GRCh38]
ChrX:66765156..66765170 [GRCh37]
ChrX:Xq12 |
benign|uncertain significance |
| NM_000044.6(AR):c.200A>T (p.Gln67Leu) |
single nucleotide variant |
not provided [RCV000995929] |
ChrX:67545346 [GRCh38]
ChrX:66765188 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1407C>T (p.Gly469=) |
single nucleotide variant |
not provided [RCV000995932] |
ChrX:67546553 [GRCh38]
ChrX:66766395 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1723C>G (p.Leu575Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003769346]|Male infertility [RCV003983813]|Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991585]|not provided [RCV000995933]|not specified [RCV005236513] |
ChrX:67643362 [GRCh38]
ChrX:66863204 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|benign|likely benign|uncertain significance |
| NM_000044.6(AR):c.1035_1038del (p.Leu347fs) |
deletion |
not provided [RCV001008798] |
ChrX:67546179..67546182 [GRCh38]
ChrX:66766021..66766024 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2607+2T>G |
single nucleotide variant |
Androgen resistance syndrome [RCV001568309] |
ChrX:67722986 [GRCh38]
ChrX:66942828 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2657A>T (p.His886Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001568310] |
ChrX:67723735 [GRCh38]
ChrX:66943577 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.171GCA[34] (p.Gln70_Gln80dup) |
microsatellite |
AR-related disorder [RCV003941014]|not provided [RCV001565477] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.814C>T (p.Leu272Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV002568466]|Male infertility [RCV003983980]|not provided [RCV001572631] |
ChrX:67545960 [GRCh38]
ChrX:66765802 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign|uncertain significance |
| NM_000044.6(AR):c.2344T>G (p.Tyr782Asp) |
single nucleotide variant |
not provided [RCV003318164] |
ChrX:67721858 [GRCh38]
ChrX:66941700 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2450-42G>A |
single nucleotide variant |
not provided [RCV001575828] |
ChrX:67722785 [GRCh38]
ChrX:66942627 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.171GCA[29] (p.Gln75_Gln80dup) |
microsatellite |
AR-related disorder [RCV003913322]|not provided [RCV003738093]|not specified [RCV001702182] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1186G>A (p.Gly396Ser) |
single nucleotide variant |
not provided [RCV001589791] |
ChrX:67546332 [GRCh38]
ChrX:66766174 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1617-255A>G |
single nucleotide variant |
not provided [RCV001693053] |
ChrX:67643001 [GRCh38]
ChrX:66862843 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1371C>T (p.Gly457=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003771808]|not provided [RCV001620122] |
ChrX:67546517 [GRCh38]
ChrX:66766359 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2608-165AC[13] |
microsatellite |
not provided [RCV001570819] |
ChrX:67723520..67723521 [GRCh38]
ChrX:66943362..66943363 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2318+243A>G |
single nucleotide variant |
not provided [RCV001541431] |
ChrX:67717865 [GRCh38]
ChrX:66937707 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del) |
microsatellite |
Androgen resistance syndrome [RCV002073225]|not provided [RCV001690150]|not specified [RCV001699596] |
ChrX:67545317..67545322 [GRCh38]
ChrX:66765159..66765164 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6(AR):c.1368T>C (p.Gly456=) |
single nucleotide variant |
Androgen resistance syndrome [RCV001432257]|not provided [RCV003438527] |
ChrX:67546514 [GRCh38]
ChrX:66766356 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.134C>G (p.Ala45Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV001468427] |
ChrX:67545280 [GRCh38]
ChrX:66765122 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1335del (p.Gln445fs) |
deletion |
Androgen resistance syndrome [RCV001218858] |
ChrX:67546481 [GRCh38]
ChrX:66766323 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1009G>C (p.Gly337Arg) |
single nucleotide variant |
not provided [RCV003231724] |
ChrX:67546155 [GRCh38]
ChrX:66765997 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1885+4A>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003771711]|not provided [RCV001559423] |
ChrX:67686130 [GRCh38]
ChrX:66905972 [GRCh37]
ChrX:Xq12 |
likely benign|uncertain significance |
| NM_000044.6(AR):c.1762G>C (p.Ala588Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV001787231]|not provided [RCV001560111] |
ChrX:67643401 [GRCh38]
ChrX:66863243 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.1749C>G (p.Phe583Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV002472280] |
ChrX:67643388 [GRCh38]
ChrX:66863230 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2608-165AC[14] |
microsatellite |
not provided [RCV001687588] |
ChrX:67723520..67723521 [GRCh38]
ChrX:66943362..66943363 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1886-207A>T |
single nucleotide variant |
not provided [RCV001637452] |
ChrX:67711195 [GRCh38]
ChrX:66931037 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2319-78T>G |
single nucleotide variant |
not provided [RCV001637821] |
ChrX:67721755 [GRCh38]
ChrX:66941597 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter) |
insertion |
Androgen resistance syndrome [RCV001049499] |
ChrX:67545327..67545328 [GRCh38]
ChrX:66765169..66765170 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2125G>A (p.Gly709Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV001049960] |
ChrX:67711641 [GRCh38]
ChrX:66931483 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1768+204T>G |
single nucleotide variant |
not provided [RCV001682078] |
ChrX:67643611 [GRCh38]
ChrX:66863453 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2486A>T (p.Asp829Val) |
single nucleotide variant |
Male infertility [RCV003984022]|Non-obstructive azoospermia [RCV001648509] |
ChrX:67722863 [GRCh38]
ChrX:66942705 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.239_240insGCAGCAGC (p.Glu81fs) |
insertion |
Androgen resistance syndrome [RCV001206102] |
ChrX:67545385..67545386 [GRCh38]
ChrX:66765227..66765228 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1859G>A (p.Cys620Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV001060093] |
ChrX:67686100 [GRCh38]
ChrX:66905942 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1460del (p.Pro487fs) |
deletion |
Androgen resistance syndrome [RCV001212478]|not provided [RCV001269686] |
ChrX:67546602 [GRCh38]
ChrX:66766444 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2641C>G (p.Leu881Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV001235701] |
ChrX:67723719 [GRCh38]
ChrX:66943561 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2047C>T (p.Pro683Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001039615]|Partial androgen insensitivity syndrome [RCV001809960] |
ChrX:67711563 [GRCh38]
ChrX:66931405 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2070C>G (p.His690Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV001217034]|not provided [RCV003317455] |
ChrX:67711586 [GRCh38]
ChrX:66931428 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.463G>T (p.Glu155Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001056832] |
ChrX:67545609 [GRCh38]
ChrX:66765451 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2037A>C (p.Glu679Asp) |
single nucleotide variant |
Androgen resistance syndrome [RCV001057182] |
ChrX:67711553 [GRCh38]
ChrX:66931395 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2507T>G (p.Ile836Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001251210]|Androgen resistance syndrome [RCV002568712] |
ChrX:67722884 [GRCh38]
ChrX:66942726 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.2570_2572del (p.Phe857del) |
deletion |
Androgen resistance syndrome [RCV001262662] |
ChrX:67722945..67722947 [GRCh38]
ChrX:66942787..66942789 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1344_1345insTA (p.Pro449fs) |
insertion |
Androgen resistance syndrome [RCV004691673] |
ChrX:67546489..67546490 [GRCh38]
ChrX:66766331..66766332 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1994T>C (p.Ile665Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV001348442] |
ChrX:67711510 [GRCh38]
ChrX:66931352 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000044.6(AR):c.2591T>C (p.Leu864Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV003770409]|not provided [RCV001269737] |
ChrX:67722968 [GRCh38]
ChrX:66942810 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2290T>C (p.Tyr764His) |
single nucleotide variant |
not provided [RCV001269795] |
ChrX:67717594 [GRCh38]
ChrX:66937436 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2225G>C (p.Trp742Ser) |
single nucleotide variant |
not provided [RCV001269903] |
ChrX:67717529 [GRCh38]
ChrX:66937371 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.646G>A (p.Gly216Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV001258269]|Androgen resistance syndrome [RCV002069371] |
ChrX:67545792 [GRCh38]
ChrX:66765634 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2318A>T (p.Glu773Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV001319803] |
ChrX:67717622 [GRCh38]
ChrX:66937464 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2334G>T (p.Lys778Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV001326231]|not provided [RCV003135982] |
ChrX:67721848 [GRCh38]
ChrX:66941690 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.847C>T (p.Pro283Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001332126] |
ChrX:67545993 [GRCh38]
ChrX:66765835 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2159C>T (p.Ala720Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV001372746]|Androgen resistance syndrome [RCV003226464] |
ChrX:67711675 [GRCh38]
ChrX:66931517 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2338C>T (p.Arg780Trp) |
single nucleotide variant |
Androgen resistance syndrome [RCV001270904]|Androgen resistance syndrome [RCV001380447]|not provided [RCV001561925] |
ChrX:67721852 [GRCh38]
ChrX:66941694 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1793G>C (p.Ser598Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV002537724]|not provided [RCV001269607] |
ChrX:67686034 [GRCh38]
ChrX:66905876 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2216A>G (p.Gln739Arg) |
single nucleotide variant |
not provided [RCV001269794] |
ChrX:67717520 [GRCh38]
ChrX:66937362 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2741C>A (p.Pro914His) |
single nucleotide variant |
Androgen resistance syndrome [RCV001361902] |
ChrX:67723819 [GRCh38]
ChrX:66943661 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1889G>A (p.Arg630Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV001373583] |
ChrX:67711405 [GRCh38]
ChrX:66931247 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.170T>A (p.Leu57Gln) |
single nucleotide variant |
AR-related disorder [RCV003938649]|Androgen resistance syndrome [RCV001438057]|Ovarian cancer [RCV003154010]|not provided [RCV001355053]|not specified [RCV003317485] |
ChrX:67545316 [GRCh38]
ChrX:66765158 [GRCh37]
ChrX:Xq12 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000044.6(AR):c.2747A>C (p.Tyr916Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001268946] |
ChrX:67723825 [GRCh38]
ChrX:66943667 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2042T>A (p.Ile681Asn) |
single nucleotide variant |
not provided [RCV001291581] |
ChrX:67711558 [GRCh38]
ChrX:66931400 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2411A>G (p.Glu804Gly) |
single nucleotide variant |
not provided [RCV001269777] |
ChrX:67721925 [GRCh38]
ChrX:66941767 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2222C>T (p.Ser741Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV004691403]|not provided [RCV001269561] |
ChrX:67717526 [GRCh38]
ChrX:66937368 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2383T>G (p.Phe795Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV001338008] |
ChrX:67721897 [GRCh38]
ChrX:66941739 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.171GCA[13] (p.Gln71_Gln80del) |
microsatellite |
AR-related disorder [RCV003948513]|Androgen resistance syndrome [RCV001514013]|not provided [RCV003438854] |
ChrX:67545317..67545346 [GRCh38]
ChrX:66765159..66765188 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1788C>T (p.Cys596=) |
single nucleotide variant |
Androgen resistance syndrome [RCV001522392]|not provided [RCV001619925] |
ChrX:67686029 [GRCh38]
ChrX:66905871 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2225G>T (p.Trp742Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001380446] |
ChrX:67717529 [GRCh38]
ChrX:66937371 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del) |
microsatellite |
Androgen resistance syndrome [RCV001514837]|not provided [RCV003438856]|not specified [RCV001821819] |
ChrX:67546515..67546535 [GRCh38]
ChrX:66766357..66766377 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1370GCG[9] (p.Gly466_Gly473del) |
microsatellite |
AR-related disorder [RCV003956180]|Androgen resistance syndrome [RCV001517179] |
ChrX:67546515..67546538 [GRCh38]
ChrX:66766357..66766380 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2388A>G (p.Gly796=) |
single nucleotide variant |
Androgen resistance syndrome [RCV001514093] |
ChrX:67721902 [GRCh38]
ChrX:66941744 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2237T>C (p.Met746Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV001375948]|Androgen resistance syndrome [RCV001865883] |
ChrX:67717541 [GRCh38]
ChrX:66937383 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.667G>A (p.Asp223Asn) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV002250922] |
ChrX:67545813 [GRCh38]
ChrX:66765655 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.52dup (p.Thr18fs) |
duplication |
Androgen resistance syndrome [RCV001386382] |
ChrX:67545197..67545198 [GRCh38]
ChrX:66765039..66765040 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NC_000023.10:g.(?_66905832)_(66905988_?)del |
deletion |
Androgen resistance syndrome [RCV001383813] |
ChrX:66905832..66905988 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1125G>C (p.Pro375=) |
single nucleotide variant |
Androgen resistance syndrome [RCV001437618] |
ChrX:67546271 [GRCh38]
ChrX:66766113 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1737del (p.Cys580fs) |
deletion |
Androgen resistance syndrome [RCV001385554] |
ChrX:67643376 [GRCh38]
ChrX:66863218 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2170C>T (p.Pro724Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV001391228] |
ChrX:67711686 [GRCh38]
ChrX:66931528 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.324G>C (p.Leu108=) |
single nucleotide variant |
Androgen resistance syndrome [RCV001519069]|not provided [RCV001776242]|not specified [RCV001821830] |
ChrX:67545470 [GRCh38]
ChrX:66765312 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2450-44G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV002073130]|not provided [RCV001673905] |
ChrX:67722783 [GRCh38]
ChrX:67722783..67722784 [GRCh38]
ChrX:66942625 [GRCh37]
ChrX:66942625..66942626 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1370_1371insTGGCGGCGG (p.Gly471_Gly473dup) |
insertion |
Androgen resistance syndrome [RCV001520691] |
ChrX:67546514..67546515 [GRCh38]
ChrX:66766356..66766357 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1370_1371insTGGCGGCGGCGG (p.Gly470_Gly473dup) |
insertion |
Androgen resistance syndrome [RCV001520692]|not provided [RCV003886520] |
ChrX:67546514..67546515 [GRCh38]
ChrX:66766356..66766357 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2608-165AC[15] |
microsatellite |
not provided [RCV001651541] |
ChrX:67723520..67723521 [GRCh38]
ChrX:66943362..66943363 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1063G>T (p.Glu355Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001390825]|Androgen resistance syndrome [RCV001391229] |
ChrX:67546209 [GRCh38]
ChrX:66766051 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1370GCG[11] (p.Gly468_Gly473del) |
microsatellite |
Androgen resistance syndrome [RCV001519547]|not provided [RCV003438859] |
ChrX:67546515..67546532 [GRCh38]
ChrX:66766357..66766374 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1301C>T (p.Ser434Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV001517109]|Male infertility [RCV003983938]|Malignant tumor of prostate [RCV002246397]|Non-obstructive azoospermia [RCV001647308] |
ChrX:67546447 [GRCh38]
ChrX:66766289 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic|benign |
| NC_000023.10:g.(?_66863078)_(66943703_?)del |
deletion |
Androgen resistance syndrome [RCV001383814] |
ChrX:66863078..66943703 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup) |
microsatellite |
AR-related disorder [RCV003966111]|Androgen resistance syndrome [RCV001518160]|not provided [RCV001712931] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign |
| NM_000044.6(AR):c.1960G>A (p.Glu654Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV003774722]|not specified [RCV002246994] |
ChrX:67711476 [GRCh38]
ChrX:66931318 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2255G>A (p.Trp752Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001787234]|Androgen resistance syndrome [RCV003771874] |
ChrX:67717559 [GRCh38]
ChrX:66937401 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1567G>T (p.Glu523Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001726694] |
ChrX:67546713 [GRCh38]
ChrX:66766555 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1742A>C (p.Lys581Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV001787235] |
ChrX:67643381 [GRCh38]
ChrX:66863223 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.175C>T (p.Gln59Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001787236]|not provided [RCV003238868] |
ChrX:67545321 [GRCh38]
ChrX:66765163 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1175C>G (p.Pro392Arg) |
single nucleotide variant |
Malignant tumor of prostate [RCV002249261]|not specified [RCV003331336] |
ChrX:67546321 [GRCh38]
ChrX:66766163 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.1370GCG[4] (p.Gly461_Gly473del) |
microsatellite |
not provided [RCV001725820] |
ChrX:67546515..67546553 [GRCh38]
ChrX:66766357..66766395 [GRCh37]
ChrX:Xq12 |
benign|uncertain significance |
| NM_000044.6(AR):c.1927G>A (p.Glu643Lys) |
single nucleotide variant |
not specified [RCV001728071] |
ChrX:67711443 [GRCh38]
ChrX:66931285 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2494C>G (p.Arg832Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV002273090] |
ChrX:67722871 [GRCh38]
ChrX:66942713 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2505C>G (p.Tyr835Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV002272646] |
ChrX:67722882 [GRCh38]
ChrX:66942724 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2076C>A (p.Asn692Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV002272808] |
ChrX:67711592 [GRCh38]
ChrX:66931434 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.649del (p.Ala217fs) |
deletion |
not provided [RCV001785959] |
ChrX:67545791 [GRCh38]
ChrX:66765633 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2710G>T (p.Val904Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001808075] |
ChrX:67723788 [GRCh38]
ChrX:66943630 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV004691671] |
ChrX:67545149 [GRCh38]
ChrX:66764991 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2197G>A (p.Asp733Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV002542705]|not provided [RCV001817840] |
ChrX:67717501 [GRCh38]
ChrX:66937343 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.675_678del (p.Asn224_Tyr225insTer) |
deletion |
not provided [RCV001817869] |
ChrX:67545818..67545821 [GRCh38]
ChrX:66765660..66765663 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.170delinsAGCA (p.Leu57delinsGlnGln) |
indel |
not specified [RCV001817918] |
ChrX:67545316 [GRCh38]
ChrX:66765158 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2668G>T (p.Val890Leu) |
single nucleotide variant |
not provided [RCV001818004] |
ChrX:67723746 [GRCh38]
ChrX:66943588 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1029T>C (p.Ser343=) |
single nucleotide variant |
AR-related disorder [RCV003931353]|Androgen resistance syndrome [RCV002074264]|not specified [RCV001822240] |
ChrX:67546175 [GRCh38]
ChrX:66766017 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2078A>T (p.Asn693Ile) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV001808188] |
ChrX:67711594 [GRCh38]
ChrX:66931436 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1380C>T (p.Gly460=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003772326]|not specified [RCV001822423] |
ChrX:67546526 [GRCh38]
ChrX:66766368 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1768+3A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV001930018] |
ChrX:67643410 [GRCh38]
ChrX:66863252 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.7G>A (p.Val3Met) |
single nucleotide variant |
Androgen resistance syndrome [RCV001988640]|Androgen resistance syndrome [RCV002492261]|Ovarian cancer [RCV003154053] |
ChrX:67545153 [GRCh38]
ChrX:66764995 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.1715A>T (p.Tyr572Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV001988837] |
ChrX:67643354 [GRCh38]
ChrX:66863196 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xq12(chrX:66911061-67264952)x2 |
copy number gain |
not provided [RCV001829201] |
ChrX:66911061..67264952 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter) |
duplication |
Androgen resistance syndrome [RCV001927307] |
ChrX:67721832..67721833 [GRCh38]
ChrX:66941674..66941675 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2227A>G (p.Met743Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV001823565]|not provided [RCV004719178] |
ChrX:67717531 [GRCh38]
ChrX:66937373 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGlnGln) |
insertion |
Androgen resistance syndrome [RCV001909205] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001964227] |
ChrX:67545147 [GRCh38]
ChrX:66764989 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.1616+22263G>A |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV001823020] |
ChrX:67569025 [GRCh38]
ChrX:66788867 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2494C>T (p.Arg832Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV005225521]|not provided [RCV001840841] |
ChrX:67722871 [GRCh38]
ChrX:66942713 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2407dup (p.Gln803fs) |
duplication |
Androgen resistance syndrome [RCV001848601]|Androgen resistance syndrome [RCV005225526] |
ChrX:67721915..67721916 [GRCh38]
ChrX:66941757..66941758 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xq12-13.1(chrX:66803179-67815570)x2 |
copy number gain |
not provided [RCV001827969] |
ChrX:66803179..67815570 [GRCh37]
ChrX:Xq12-13.1 |
uncertain significance |
| GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) |
copy number gain |
not specified [RCV002053135] |
ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1 |
pathogenic |
| GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) |
copy number gain |
not specified [RCV002053136] |
ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1 |
pathogenic |
| GRCh37/hg19 Xq12-13.1(chrX:65734663-68081523) |
copy number loss |
not specified [RCV002053140] |
ChrX:65734663..68081523 [GRCh37]
ChrX:Xq12-13.1 |
pathogenic |
| NM_000044.6(AR):c.2750del (p.Phe917fs) |
deletion |
Androgen resistance syndrome [RCV002021449] |
ChrX:67723826 [GRCh38]
ChrX:66943668 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2512G>T (p.Glu838Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001946629] |
ChrX:67722889 [GRCh38]
ChrX:66942731 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2744T>A (p.Ile915Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV001986020] |
ChrX:67723822 [GRCh38]
ChrX:66943664 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1419_1421del (p.Glu474del) |
deletion |
AR-related disorder [RCV003958454]|Androgen resistance syndrome [RCV001969014] |
ChrX:67546565..67546567 [GRCh38]
ChrX:66766407..66766409 [GRCh37]
ChrX:Xq12 |
likely benign|uncertain significance |
| NM_000044.6(AR):c.2126G>A (p.Gly709Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV001848590] |
ChrX:67711642 [GRCh38]
ChrX:66931484 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1885+2T>G |
single nucleotide variant |
Androgen resistance syndrome [RCV001946527] |
ChrX:67686128 [GRCh38]
ChrX:66905970 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.2726C>T (p.Ser909Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV001823614] |
ChrX:67723804 [GRCh38]
ChrX:66943646 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2279C>A (p.Ser760Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV002003981] |
ChrX:67717583 [GRCh38]
ChrX:66937425 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1370GCG[6] (p.Gly463_Gly473del) |
microsatellite |
AR-related disorder [RCV003923369]|Androgen resistance syndrome [RCV001943870] |
ChrX:67546515..67546547 [GRCh38]
ChrX:66766357..66766389 [GRCh37]
ChrX:Xq12 |
benign|uncertain significance |
| NM_000044.6(AR):c.1707del (p.Cys570fs) |
deletion |
Androgen resistance syndrome [RCV001960660] |
ChrX:67643344 [GRCh38]
ChrX:66863186 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2515C>A (p.Leu839Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV001963282] |
ChrX:67722892 [GRCh38]
ChrX:66942734 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NC_000023.10:g.(?_66941655)_(66943683_?)del |
deletion |
Androgen resistance syndrome [RCV001941847] |
ChrX:66941655..66943683 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NC_000023.10:g.(?_66931224)_(66931551_?)del |
deletion |
Androgen resistance syndrome [RCV001963218] |
ChrX:66931224..66931551 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1477C>T (p.Gln493Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001920317] |
ChrX:67546623 [GRCh38]
ChrX:66766465 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2318A>G (p.Glu773Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV001991264] |
ChrX:67717622 [GRCh38]
ChrX:66937464 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.983C>G (p.Ser328Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV001989177] |
ChrX:67546129 [GRCh38]
ChrX:66765971 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.358C>T (p.Gln120Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001923647] |
ChrX:67545504 [GRCh38]
ChrX:66765346 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2126G>T (p.Gly709Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV002035910] |
ChrX:67711642 [GRCh38]
ChrX:66931484 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.829_833dup (p.Val279fs) |
duplication |
Androgen resistance syndrome [RCV001960720] |
ChrX:67545974..67545975 [GRCh38]
ChrX:66765816..66765817 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2653T>C (p.Ser885Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV001916259] |
ChrX:67723731 [GRCh38]
ChrX:66943573 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.170AGC[8] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
Androgen resistance syndrome [RCV001936267] |
ChrX:67545313..67545314 [GRCh38]
ChrX:66765155..66765156 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2360G>C (p.Arg787Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV001917371] |
ChrX:67721874 [GRCh38]
ChrX:66941716 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1738T>A (p.Cys580Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV002016983] |
ChrX:67643377 [GRCh38]
ChrX:66863219 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1443C>A (p.Tyr481Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV001867583] |
ChrX:67546589 [GRCh38]
ChrX:66766431 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.171GCA[11] (p.Gln69_Gln80del) |
microsatellite |
AR-related disorder [RCV003950928]|Androgen resistance syndrome [RCV002187869] |
ChrX:67545317..67545352 [GRCh38]
ChrX:66765159..66765194 [GRCh37]
ChrX:Xq12 |
pathogenic|benign|likely benign |
| NM_000044.6(AR):c.1743G>A (p.Lys581=) |
single nucleotide variant |
Androgen resistance syndrome [RCV002128343]|not provided [RCV004714382] |
ChrX:67643382 [GRCh38]
ChrX:66863224 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1651G>C (p.Asp551His) |
single nucleotide variant |
Androgen resistance syndrome [RCV003774714]|Malignant tumor of prostate [RCV002249266] |
ChrX:67643290 [GRCh38]
ChrX:66863132 [GRCh37]
ChrX:Xq12 |
pathogenic|likely benign |
| NM_000044.6(AR):c.1395_1426del (p.Gly466fs) |
deletion |
not provided [RCV002224444] |
ChrX:67546536..67546567 [GRCh38]
ChrX:66766378..66766409 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2607+20T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV002078760] |
ChrX:67723004 [GRCh38]
ChrX:66942846 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2608-17_2608-16del |
microsatellite |
Androgen resistance syndrome [RCV002133204] |
ChrX:67723667..67723668 [GRCh38]
ChrX:66943509..66943510 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.208C>T (p.Gln70Ter) |
single nucleotide variant |
Malignant tumor of prostate [RCV002249258] |
ChrX:67545354 [GRCh38]
ChrX:66765196 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1644G>T (p.Leu548Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV003774713]|Prostate cancer, hereditary, X-linked 3 [RCV005054404] |
ChrX:67643283 [GRCh38]
ChrX:66863125 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6(AR):c.2184C>G (p.Asn728Lys) |
single nucleotide variant |
Malignant tumor of prostate [RCV002249267] |
ChrX:67717488 [GRCh38]
ChrX:66937330 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1025C>T (p.Pro342Leu) |
single nucleotide variant |
Malignant tumor of prostate [RCV002249259]|not specified [RCV004587332] |
ChrX:67546171 [GRCh38]
ChrX:66766013 [GRCh37]
ChrX:Xq12 |
pathogenic|uncertain significance |
| NM_000044.6(AR):c.1063G>C (p.Glu355Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV003774711]|Malignant tumor of prostate [RCV002249260] |
ChrX:67546209 [GRCh38]
ChrX:66766051 [GRCh37]
ChrX:Xq12 |
pathogenic|benign |
| NM_000044.6(AR):c.256CAG[7] (p.Gln91dup) |
microsatellite |
Androgen resistance syndrome [RCV002118606] |
ChrX:67545400..67545401 [GRCh38]
ChrX:66765242..66765243 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1370GCG[8] (p.Gly465_Gly473del) |
microsatellite |
Androgen resistance syndrome [RCV002117927] |
ChrX:67546515..67546541 [GRCh38]
ChrX:66766357..66766383 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1616+21621G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV002143708] |
ChrX:67568383 [GRCh38]
ChrX:66788225 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1616+12C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV002181912] |
ChrX:67546774 [GRCh38]
ChrX:66766616 [GRCh37]
ChrX:Xq12 |
benign |
| NC_000023.10:g.(?_66905832)_(68060497_?)dup |
duplication |
not provided [RCV003122568] |
ChrX:66905832..68060497 [GRCh37]
ChrX:Xq12-13.1 |
uncertain significance |
| NC_000023.10:g.(?_66788225)_(67021550_?)del |
deletion |
Androgen resistance syndrome [RCV003119134] |
ChrX:66788225..67021550 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2287C>G (p.Leu763Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV004691670] |
ChrX:67717591 [GRCh38]
ChrX:66937433 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2302G>T (p.Asp768Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV004691672] |
ChrX:67717606 [GRCh38]
ChrX:66937448 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2056G>C (p.Val686Leu) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV002273049] |
ChrX:67711572 [GRCh38]
ChrX:66931414 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1768+1G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV002251259] |
ChrX:67643408 [GRCh38]
ChrX:66863250 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1195T>C (p.Trp399Arg) |
single nucleotide variant |
Malignant tumor of prostate [RCV002249262] |
ChrX:67546341 [GRCh38]
ChrX:66766183 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1208C>T (p.Ala403Val) |
single nucleotide variant |
Malignant tumor of prostate [RCV002249264] |
ChrX:67546354 [GRCh38]
ChrX:66766196 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2221T>C (p.Ser741Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV003130941] |
ChrX:67717525 [GRCh38]
ChrX:66937367 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2072A>G (p.Asp691Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV003320007] |
ChrX:67711588 [GRCh38]
ChrX:66931430 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000044.6(AR):c.2226G>A (p.Trp742Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV002275264] |
ChrX:67717530 [GRCh38]
ChrX:66937372 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_000044.6(AR):c.329_333del (p.Leu110fs) |
deletion |
Androgen resistance syndrome [RCV002289067] |
ChrX:67545475..67545479 [GRCh38]
ChrX:66765317..66765321 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1933G>T (p.Glu645Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV002284026] |
ChrX:67711449 [GRCh38]
ChrX:66931291 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2384_2385del (p.Phe795fs) |
deletion |
See cases [RCV003128527] |
ChrX:67721897..67721898 [GRCh38]
ChrX:66941739..66941740 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer) |
deletion |
Androgen resistance syndrome [RCV002466924]|Androgen resistance syndrome [RCV003775494] |
ChrX:67546751 [GRCh38]
ChrX:66766593 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NC_000023.10:g.(66766605_66863097)_(66863250_66905851)del |
deletion |
Androgen resistance syndrome [RCV002302463] |
ChrX:66863097..66863250 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.754G>T (p.Glu252Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV002471897] |
ChrX:67545900 [GRCh38]
ChrX:66765742 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2561C>G (p.Ser854Ter) |
single nucleotide variant |
See cases [RCV003128526] |
ChrX:67722938 [GRCh38]
ChrX:66942780 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2339G>A (p.Arg780Gln) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV003148342] |
ChrX:67721853 [GRCh38]
ChrX:66941695 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2392C>A (p.Leu798Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV002304002] |
ChrX:67721906 [GRCh38]
ChrX:66941748 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1421A>G (p.Glu474Gly) |
single nucleotide variant |
Ovarian cancer [RCV003154769] |
ChrX:67546567 [GRCh38]
ChrX:66766409 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.809C>A (p.Ala270Asp) |
single nucleotide variant |
Androgen resistance syndrome [RCV002294940] |
ChrX:67545955 [GRCh38]
ChrX:66765797 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1396_1397insAG (p.Gly466fs) |
insertion |
Androgen resistance syndrome [RCV002310618] |
ChrX:67546541..67546542 [GRCh38]
ChrX:66766383..66766384 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2484T>A (p.Phe828Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV002331856] |
ChrX:67722861 [GRCh38]
ChrX:66942703 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.256CAG[5] (p.Gln91del) |
microsatellite |
Hepatocellular carcinoma [RCV002302709] |
ChrX:67545401..67545403 [GRCh38]
ChrX:66765243..66765245 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1737C>A (p.Ser579Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV002302851] |
ChrX:67643376 [GRCh38]
ChrX:66863218 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.304A>T (p.Arg102Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV002815395] |
ChrX:67545450 [GRCh38]
ChrX:66765292 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2162dup (p.Ala722fs) |
duplication |
Androgen resistance syndrome [RCV002970595] |
ChrX:67711676..67711677 [GRCh38]
ChrX:66931518..66931519 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1687T>C (p.Cys563Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV002881524] |
ChrX:67643326 [GRCh38]
ChrX:66863168 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1040T>G (p.Leu347Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV003073714] |
ChrX:67546186 [GRCh38]
ChrX:66766028 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.967G>T (p.Glu323Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003033737] |
ChrX:67546113 [GRCh38]
ChrX:66765955 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGln) |
insertion |
Androgen resistance syndrome [RCV002889739] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1926G>A (p.Glu642=) |
single nucleotide variant |
Androgen resistance syndrome [RCV002785782] |
ChrX:67711442 [GRCh38]
ChrX:66931284 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2327T>C (p.Met776Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV003019671] |
ChrX:67721841 [GRCh38]
ChrX:66941683 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1224T>A (p.Tyr408Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV002797041] |
ChrX:67546370 [GRCh38]
ChrX:66766212 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.179A>T (p.Gln60Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002704116]|not provided [RCV003312090] |
ChrX:67545325 [GRCh38]
ChrX:66765167 [GRCh37]
ChrX:Xq12 |
likely benign|uncertain significance |
| NM_000044.6(AR):c.1429G>C (p.Ala477Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002757094] |
ChrX:67546575 [GRCh38]
ChrX:66766417 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2220C>G (p.Tyr740Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003000181] |
ChrX:67717524 [GRCh38]
ChrX:66937366 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.191A>T (p.Gln64Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002704003] |
ChrX:67545337 [GRCh38]
ChrX:66765179 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1479G>A (p.Gln493=) |
single nucleotide variant |
Androgen resistance syndrome [RCV002736125] |
ChrX:67546625 [GRCh38]
ChrX:66766467 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1243C>T (p.His415Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV002790332] |
ChrX:67546389 [GRCh38]
ChrX:66766231 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.807C>T (p.Tyr269=) |
single nucleotide variant |
Androgen resistance syndrome [RCV002624588] |
ChrX:67545953 [GRCh38]
ChrX:66765795 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2761T>C (p.Ter921Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV002625804] |
ChrX:67723839 [GRCh38]
ChrX:66943681 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2407del (p.Gln803fs) |
deletion |
Androgen resistance syndrome [RCV003041451] |
ChrX:67721916 [GRCh38]
ChrX:66941758 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2191_2199del (p.Val731_Asp733del) |
deletion |
Androgen resistance syndrome [RCV002851524] |
ChrX:67717493..67717501 [GRCh38]
ChrX:66937335..66937343 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2174-2A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV002802182] |
ChrX:67717476 [GRCh38]
ChrX:66937318 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2000G>A (p.Gly667Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002929918] |
ChrX:67711516 [GRCh38]
ChrX:66931358 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.101T>A (p.Ile34Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002786915] |
ChrX:67545247 [GRCh38]
ChrX:66765089 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1756A>T (p.Arg586Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV002985696] |
ChrX:67643395 [GRCh38]
ChrX:66863237 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2256G>A (p.Trp752Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003041450] |
ChrX:67717560 [GRCh38]
ChrX:66937402 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1714T>G (p.Tyr572Asp) |
single nucleotide variant |
Androgen resistance syndrome [RCV002835300] |
ChrX:67643353 [GRCh38]
ChrX:66863195 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2156G>A (p.Trp719Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003064729] |
ChrX:67711672 [GRCh38]
ChrX:66931514 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2449+5G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003065885] |
ChrX:67721968 [GRCh38]
ChrX:66941810 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1246G>A (p.Gly416Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002669803] |
ChrX:67546392 [GRCh38]
ChrX:66766234 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.732G>T (p.Ser244=) |
single nucleotide variant |
AR-related disorder [RCV003973708]|Androgen resistance syndrome [RCV002647252] |
ChrX:67545878 [GRCh38]
ChrX:66765720 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.240A>G (p.Gln80=) |
single nucleotide variant |
Androgen resistance syndrome [RCV002966162] |
ChrX:67545386 [GRCh38]
ChrX:66765228 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2087A>T (p.Asp696Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003064728] |
ChrX:67711603 [GRCh38]
ChrX:66931445 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2741C>G (p.Pro914Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV003064730] |
ChrX:67723819 [GRCh38]
ChrX:66943661 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2666G>T (p.Ser889Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV002856134] |
ChrX:67723744 [GRCh38]
ChrX:66943586 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.733del (p.Val245fs) |
deletion |
Androgen resistance syndrome [RCV002835205] |
ChrX:67545878 [GRCh38]
ChrX:66765720 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1364G>A (p.Gly455Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002668401] |
ChrX:67546510 [GRCh38]
ChrX:66766352 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.747G>A (p.Leu249=) |
single nucleotide variant |
Androgen resistance syndrome [RCV002603443] |
ChrX:67545893 [GRCh38]
ChrX:66765735 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2042T>C (p.Ile681Thr) |
single nucleotide variant |
Androgen resistance syndrome [RCV003050616] |
ChrX:67711558 [GRCh38]
ChrX:66931400 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2710G>A (p.Val904Met) |
single nucleotide variant |
Androgen resistance syndrome [RCV003050617] |
ChrX:67723788 [GRCh38]
ChrX:66943630 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.246T>C (p.Thr82=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003067576] |
ChrX:67545392 [GRCh38]
ChrX:66765234 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.626G>A (p.Gly209Glu) |
single nucleotide variant |
Ovarian cancer [RCV003154715] |
ChrX:67545772 [GRCh38]
ChrX:66765614 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.289C>T (p.Pro97Ser) |
single nucleotide variant |
Ovarian cancer [RCV003154755] |
ChrX:67545435 [GRCh38]
ChrX:66765277 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1484G>A (p.Ser495Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV003778919]|Ovarian cancer [RCV003154713] |
ChrX:67546630 [GRCh38]
ChrX:66766472 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1360G>A (p.Gly454Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154803] |
ChrX:67546506 [GRCh38]
ChrX:66766348 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.896C>T (p.Ala299Val) |
single nucleotide variant |
Ovarian cancer [RCV003154648] |
ChrX:67546042 [GRCh38]
ChrX:66765884 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.173A>G (p.Gln58Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154651] |
ChrX:67545319 [GRCh38]
ChrX:66765161 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1186G>C (p.Gly396Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV003778921]|Ovarian cancer [RCV003154742] |
ChrX:67546332 [GRCh38]
ChrX:66766174 [GRCh37]
ChrX:Xq12 |
likely pathogenic|benign |
| NM_000044.6(AR):c.1976A>G (p.Lys659Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154751] |
ChrX:67711492 [GRCh38]
ChrX:66931334 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1157G>T (p.Arg386Leu) |
single nucleotide variant |
Ovarian cancer [RCV003154770] |
ChrX:67546303 [GRCh38]
ChrX:66766145 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2207C>A (p.Ala736Asp) |
single nucleotide variant |
Ovarian cancer [RCV003154783] |
ChrX:67717511 [GRCh38]
ChrX:66937353 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.902A>G (p.Lys301Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154799]|not specified [RCV004587474] |
ChrX:67546048 [GRCh38]
ChrX:66765890 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.758C>T (p.Ala253Val) |
single nucleotide variant |
Ovarian cancer [RCV003154818] |
ChrX:67545904 [GRCh38]
ChrX:66765746 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1585G>T (p.Asp529Tyr) |
single nucleotide variant |
Ovarian cancer [RCV003154824] |
ChrX:67546731 [GRCh38]
ChrX:66766573 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.154_220del (p.Ala52fs) |
deletion |
Androgen resistance syndrome [RCV004795864] |
ChrX:67545298..67545364 [GRCh38]
ChrX:66765140..66765206 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2636T>C (p.Phe879Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV003229546] |
ChrX:67723714 [GRCh38]
ChrX:66943556 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.194A>T (p.Gln65Leu) |
single nucleotide variant |
not provided [RCV003141483] |
ChrX:67545340 [GRCh38]
ChrX:66765182 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.127G>C (p.Glu43Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003258174] |
ChrX:67545273 [GRCh38]
ChrX:66765115 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1769-18_1769-17del |
deletion |
not provided [RCV003229292] |
ChrX:67685992..67685993 [GRCh38]
ChrX:66905834..66905835 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1235C>A (p.Ala412Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV003779643]|Inborn genetic diseases [RCV003207384]|not provided [RCV005242377] |
ChrX:67546381 [GRCh38]
ChrX:66766223 [GRCh37]
ChrX:Xq12 |
benign|likely benign|uncertain significance |
| NM_000044.6(AR):c.974T>C (p.Leu325Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003286303] |
ChrX:67546120 [GRCh38]
ChrX:66765962 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.170_178del (p.Leu57_Gln59del) |
deletion |
See cases [RCV004798149] |
ChrX:67545314..67545322 [GRCh38]
ChrX:66765156..66765164 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.172_173insTGCAGCAGCAGCAGCAGC (p.Leu57_Gln58insLeuGlnGlnGlnGlnGln) |
insertion |
not provided [RCV003329068] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1769-61G>A |
single nucleotide variant |
AR-related disorder [RCV003928995]|not provided [RCV003334326] |
ChrX:67685949 [GRCh38]
ChrX:66905791 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.493T>A (p.Ser165Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003378781] |
ChrX:67545639 [GRCh38]
ChrX:66765481 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.957G>T (p.Gly319=) |
single nucleotide variant |
not provided [RCV003457604] |
ChrX:67546103 [GRCh38]
ChrX:66765945 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2339G>C (p.Arg780Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV003459915] |
|
likely pathogenic |
| NM_000044.6(AR):c.2449+1_2449+3dup |
duplication |
Androgen resistance syndrome [RCV003459916] |
|
likely pathogenic |
| NM_000044.6(AR):c.45G>A (p.Pro15=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003782139] |
ChrX:67545191 [GRCh38]
ChrX:66765033 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2580C>A (p.Leu860=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003791195] |
ChrX:67722957 [GRCh38]
ChrX:66942799 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.420C>G (p.Ala140=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003791292] |
ChrX:67545566 [GRCh38]
ChrX:66765408 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.458C>T (p.Pro153Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV003779236]|not provided [RCV003490475] |
ChrX:67545604 [GRCh38]
ChrX:66765446 [GRCh37]
ChrX:Xq12 |
benign|uncertain significance |
| GRCh37/hg19 Xq12(chrX:66645726-66980587)x2 |
copy number gain |
not provided [RCV003483962] |
ChrX:66645726..66980587 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.882G>T (p.Leu294=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003494492]|Androgen resistance syndrome [RCV003779300] |
ChrX:67546028 [GRCh38]
ChrX:66765870 [GRCh37]
ChrX:Xq12 |
likely benign|uncertain significance |
| NM_000044.6(AR):c.1656T>C (p.Tyr552=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003791387] |
ChrX:67643295 [GRCh38]
ChrX:66863137 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1531A>T (p.Arg511Ter) |
single nucleotide variant |
AR-related disorder [RCV003427941]|Androgen resistance syndrome [RCV003883995] |
ChrX:67546677 [GRCh38]
ChrX:66766519 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2450-19T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003781614] |
ChrX:67722808 [GRCh38]
ChrX:66942650 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.-913C>A |
single nucleotide variant |
not provided [RCV003438441] |
ChrX:67544234 [GRCh38]
ChrX:66764076 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.888C>T (p.Asp296=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003778457]|not provided [RCV003438445] |
ChrX:67546034 [GRCh38]
ChrX:66765876 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1365T>C (p.Gly455=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003778458]|not provided [RCV003438446] |
ChrX:67546511 [GRCh38]
ChrX:66766353 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2449+192C>T |
single nucleotide variant |
not provided [RCV003438449] |
ChrX:67722155 [GRCh38]
ChrX:66941997 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2679G>A (p.Pro893=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003778459]|not provided [RCV003438450] |
ChrX:67723757 [GRCh38]
ChrX:66943599 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.224A>G (p.Gln75Arg) |
single nucleotide variant |
not provided [RCV003438442] |
ChrX:67545370 [GRCh38]
ChrX:66765212 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.462C>G (p.Asp154Glu) |
single nucleotide variant |
not provided [RCV003438443] |
ChrX:67545608 [GRCh38]
ChrX:66765450 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1769-5189A>T |
single nucleotide variant |
not provided [RCV003438447] |
ChrX:67680821 [GRCh38]
ChrX:66900663 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.894C>T (p.Ser298=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790962] |
ChrX:67546040 [GRCh38]
ChrX:66765882 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2473C>A (p.Gln825Lys) |
single nucleotide variant |
AR-related disorder [RCV003404520]|Androgen resistance syndrome [RCV003778233] |
ChrX:67722850 [GRCh38]
ChrX:66942692 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.70del (p.Gln24fs) |
deletion |
not provided [RCV003443984] |
ChrX:67545215 [GRCh38]
ChrX:66765057 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.625G>C (p.Gly209Arg) |
single nucleotide variant |
not provided [RCV003438444] |
ChrX:67545771 [GRCh38]
ChrX:66765613 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1769-5148A>G |
single nucleotide variant |
not provided [RCV003438448] |
ChrX:67680862 [GRCh38]
ChrX:66900704 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.280G>T (p.Asp94Tyr) |
single nucleotide variant |
AR-related disorder [RCV003394416] |
ChrX:67545426 [GRCh38]
ChrX:66765268 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1103del (p.Pro368fs) |
deletion |
AR-related disorder [RCV003402554] |
ChrX:67546248 [GRCh38]
ChrX:66766090 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1341T>A (p.Tyr447Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003459914] |
|
likely pathogenic |
| NM_000044.6(AR):c.2190C>T (p.His730=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784648] |
ChrX:67717494 [GRCh38]
ChrX:66937336 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1149C>T (p.Pro383=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788300] |
ChrX:67546295 [GRCh38]
ChrX:66766137 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2403C>T (p.Thr801=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785767] |
ChrX:67721917 [GRCh38]
ChrX:66941759 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1365TGG[3] (p.Gly473_Glu474insGly) |
microsatellite |
AR-related disorder [RCV003956564]|Androgen resistance syndrome [RCV003784742] |
ChrX:67546508..67546509 [GRCh38]
ChrX:66766350..66766351 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1290C>T (p.Ala430=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003786011] |
ChrX:67546436 [GRCh38]
ChrX:66766278 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2449+8C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003794818] |
ChrX:67721971 [GRCh38]
ChrX:66941813 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.190C>T (p.Gln64Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807925] |
ChrX:67545336 [GRCh38]
ChrX:66765178 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1212G>A (p.Ala404=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003787035] |
ChrX:67546358 [GRCh38]
ChrX:66766200 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2571C>T (p.Phe857=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003789855] |
ChrX:67722948 [GRCh38]
ChrX:66942790 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.621C>G (p.Ser207Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV003806343] |
ChrX:67545767 [GRCh38]
ChrX:66765609 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.384G>A (p.Glu128=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003805248] |
ChrX:67545530 [GRCh38]
ChrX:66765372 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1886-11C>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003783727] |
ChrX:67711391 [GRCh38]
ChrX:66931233 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1972C>T (p.Gln658Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783770] |
ChrX:67711488 [GRCh38]
ChrX:66931330 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2491C>T (p.Leu831Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783775] |
ChrX:67722868 [GRCh38]
ChrX:66942710 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2608-19C>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003797488] |
ChrX:67723667 [GRCh38]
ChrX:66943509 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2706G>A (p.Val902=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784764] |
ChrX:67723784 [GRCh38]
ChrX:66943626 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2318+7G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003797393] |
ChrX:67717629 [GRCh38]
ChrX:66937471 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1743G>C (p.Lys581Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807953] |
ChrX:67643382 [GRCh38]
ChrX:66863224 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2174-12C>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003795531] |
ChrX:67717466 [GRCh38]
ChrX:66937308 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2174-13TCT[2] |
microsatellite |
Androgen resistance syndrome [RCV003797784] |
ChrX:67717465..67717467 [GRCh38]
ChrX:66937307..66937309 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.986G>T (p.Gly329Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003791324] |
ChrX:67546132 [GRCh38]
ChrX:66765974 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.222G>A (p.Gln74=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003791356] |
ChrX:67545368 [GRCh38]
ChrX:66765210 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2174-13T>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003782457] |
ChrX:67717465 [GRCh38]
ChrX:66937307 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.393C>T (p.Cys131=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003792778] |
ChrX:67545539 [GRCh38]
ChrX:66765381 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2464C>G (p.Leu822Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783774] |
ChrX:67722841 [GRCh38]
ChrX:66942683 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2319-11C>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003782516] |
ChrX:67721822 [GRCh38]
ChrX:66941664 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2439C>T (p.Leu813=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807724] |
ChrX:67721953 [GRCh38]
ChrX:66941795 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1401C>T (p.Gly467=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003797522] |
ChrX:67546547 [GRCh38]
ChrX:66766389 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2608-11G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003795458] |
ChrX:67723675 [GRCh38]
ChrX:66943517 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2607+17G>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003807145] |
ChrX:67723001 [GRCh38]
ChrX:66942843 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1407C>A (p.Gly469=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807574] |
ChrX:67546553 [GRCh38]
ChrX:66766395 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.915T>C (p.Asp305=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807575] |
ChrX:67546061 [GRCh38]
ChrX:66765903 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2481C>A (p.Phe827Leu) |
single nucleotide variant |
AR-related disorder [RCV003966674]|Androgen resistance syndrome [RCV003795561]|Male infertility [RCV003984425] |
ChrX:67722858 [GRCh38]
ChrX:66942700 [GRCh37]
ChrX:Xq12 |
likely pathogenic|benign|likely benign |
| NM_000044.6(AR):c.1123C>T (p.Pro375Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV003786361] |
ChrX:67546269 [GRCh38]
ChrX:66766111 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.312C>G (p.Pro104=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784187] |
ChrX:67545458 [GRCh38]
ChrX:66765300 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1617-13dup |
duplication |
Androgen resistance syndrome [RCV003786420] |
ChrX:67643237..67643238 [GRCh38]
ChrX:66863079..66863080 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.261G>A (p.Gln87=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785636] |
ChrX:67545407 [GRCh38]
ChrX:66765249 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1795A>C (p.Arg599=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807294] |
ChrX:67686036 [GRCh38]
ChrX:66905878 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1017T>C (p.Leu339=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807620] |
ChrX:67546163 [GRCh38]
ChrX:66766005 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.646G>C (p.Gly216Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790555] |
ChrX:67545792 [GRCh38]
ChrX:66765634 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2318+16G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003795988] |
ChrX:67717638 [GRCh38]
ChrX:66937480 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2016C>A (p.Pro672=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003797182] |
ChrX:67711532 [GRCh38]
ChrX:66931374 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1416C>A (p.Gly472=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003807429] |
ChrX:67546562 [GRCh38]
ChrX:66766404 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1386C>T (p.Gly462=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780177] |
ChrX:67546532 [GRCh38]
ChrX:66766374 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2641C>T (p.Leu881=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003797766] |
ChrX:67723719 [GRCh38]
ChrX:66943561 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1032C>T (p.Thr344=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003797338] |
ChrX:67546178 [GRCh38]
ChrX:66766020 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2070C>T (p.His690=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003795594] |
ChrX:67711586 [GRCh38]
ChrX:66931428 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1389C>T (p.Gly463=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780284] |
ChrX:67546535 [GRCh38]
ChrX:66766377 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2607+18G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003789629] |
ChrX:67723002 [GRCh38]
ChrX:66942844 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2319-18T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003794936] |
ChrX:67721815 [GRCh38]
ChrX:66941657 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1021C>T (p.Leu341=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788187] |
ChrX:67546167 [GRCh38]
ChrX:66766009 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1339_1342dup (p.Gly448fs) |
duplication |
Androgen resistance syndrome [RCV003779439] |
ChrX:67546482..67546483 [GRCh38]
ChrX:66766324..66766325 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.633G>C (p.Ala211=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003781821] |
ChrX:67545779 [GRCh38]
ChrX:66765621 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2052T>C (p.Gly684=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784142] |
ChrX:67711568 [GRCh38]
ChrX:66931410 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2106C>G (p.Leu702=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790949] |
ChrX:67711622 [GRCh38]
ChrX:66931464 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2017A>G (p.Ile673Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783456]|Inborn genetic diseases [RCV004366514] |
ChrX:67711533 [GRCh38]
ChrX:66931375 [GRCh37]
ChrX:Xq12 |
benign|uncertain significance |
| NM_000044.6(AR):c.1674G>A (p.Lys558=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003786032] |
ChrX:67643313 [GRCh38]
ChrX:66863155 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2295C>T (p.Phe765=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003806563] |
ChrX:67717599 [GRCh38]
ChrX:66937441 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1815T>C (p.Asp605=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784763] |
ChrX:67686056 [GRCh38]
ChrX:66905898 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2106C>T (p.Leu702=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003789735] |
ChrX:67711622 [GRCh38]
ChrX:66931464 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2268del (p.Asn757fs) |
deletion |
Androgen resistance syndrome [RCV003782752] |
ChrX:67717571 [GRCh38]
ChrX:66937413 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1768+16C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003783479] |
ChrX:67643423 [GRCh38]
ChrX:66863265 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1113G>A (p.Leu371=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783485] |
ChrX:67546259 [GRCh38]
ChrX:66766101 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.914A>G (p.Asp305Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV003794384] |
ChrX:67546060 [GRCh38]
ChrX:66765902 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1111C>T (p.Leu371=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784750] |
ChrX:67546257 [GRCh38]
ChrX:66766099 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2403C>G (p.Thr801=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796387] |
ChrX:67721917 [GRCh38]
ChrX:66941759 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2656C>T (p.His886Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV003795174] |
ChrX:67723734 [GRCh38]
ChrX:66943576 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1062C>G (p.Asp354Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV003782782] |
ChrX:67546208 [GRCh38]
ChrX:66766050 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1769-15T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003793104] |
ChrX:67685995 [GRCh38]
ChrX:66905837 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1194C>T (p.Ala398=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003794415]|not provided [RCV004810543] |
ChrX:67546340 [GRCh38]
ChrX:66766182 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2493T>C (p.Leu831=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780442] |
ChrX:67722870 [GRCh38]
ChrX:66942712 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.273G>A (p.Gln91=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780457] |
ChrX:67545419 [GRCh38]
ChrX:66765261 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.828A>T (p.Pro276=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003804106] |
ChrX:67545974 [GRCh38]
ChrX:66765816 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2319-13A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003783607] |
ChrX:67721820 [GRCh38]
ChrX:66941662 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1616+1_1616+3delinsT |
indel |
Androgen resistance syndrome [RCV003494493] |
ChrX:67546763..67546765 [GRCh38]
ChrX:66766605..66766607 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2363T>G (p.Met788Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV003795102] |
ChrX:67721877 [GRCh38]
ChrX:66941719 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2340G>T (p.Arg780=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003795294] |
ChrX:67721854 [GRCh38]
ChrX:66941696 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1110T>C (p.Ala370=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785077] |
ChrX:67546256 [GRCh38]
ChrX:66766098 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1206G>T (p.Ala402=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785078] |
ChrX:67546352 [GRCh38]
ChrX:66766194 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1239C>T (p.Ser413=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003787700] |
ChrX:67546385 [GRCh38]
ChrX:66766227 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.302G>A (p.Arg101His) |
single nucleotide variant |
Androgen resistance syndrome [RCV003782138] |
ChrX:67545448 [GRCh38]
ChrX:66765290 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1353T>C (p.Gly451=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003793918] |
ChrX:67546499 [GRCh38]
ChrX:66766341 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1356T>C (p.Gly452=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003793919] |
ChrX:67546502 [GRCh38]
ChrX:66766344 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1359T>C (p.Gly453=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003793920] |
ChrX:67546505 [GRCh38]
ChrX:66766347 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.459G>C (p.Pro153=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003805689] |
ChrX:67545605 [GRCh38]
ChrX:66765447 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1980G>A (p.Leu660=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003789188] |
ChrX:67711496 [GRCh38]
ChrX:66931338 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1768+17A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003789910] |
ChrX:67643424 [GRCh38]
ChrX:66863266 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2608-17C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003790501] |
ChrX:67723669 [GRCh38]
ChrX:66943511 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2179C>T (p.Arg727Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV003794004] |
ChrX:67717483 [GRCh38]
ChrX:66937325 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.559G>T (p.Glu187Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783034] |
ChrX:67545705 [GRCh38]
ChrX:66765547 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2449+20G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003787856] |
ChrX:67721983 [GRCh38]
ChrX:66941825 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1365T>G (p.Gly455=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003789976] |
ChrX:67546511 [GRCh38]
ChrX:66766353 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.859T>C (p.Leu287=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003781229] |
ChrX:67546005 [GRCh38]
ChrX:66765847 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2169G>T (p.Leu723Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783771] |
ChrX:67711685 [GRCh38]
ChrX:66931527 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2186T>C (p.Leu729Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783772] |
ChrX:67717490 [GRCh38]
ChrX:66937332 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.606A>C (p.Val202=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780674] |
ChrX:67545752 [GRCh38]
ChrX:66765594 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2319-10T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003782435] |
ChrX:67721823 [GRCh38]
ChrX:66941665 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1566C>T (p.Ser522=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785909] |
ChrX:67546712 [GRCh38]
ChrX:66766554 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.234G>A (p.Gln78=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785938] |
ChrX:67545380 [GRCh38]
ChrX:66765222 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1885+14C>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003796620] |
ChrX:67686140 [GRCh38]
ChrX:66905982 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2253C>T (p.Gly751=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788080] |
ChrX:67717557 [GRCh38]
ChrX:66937399 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1106T>C (p.Leu369Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV003779264]|Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991609] |
ChrX:67546252 [GRCh38]
ChrX:66766094 [GRCh37]
ChrX:Xq12 |
likely pathogenic|uncertain significance |
| NM_000044.6(AR):c.2174-18C>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003794824] |
ChrX:67717460 [GRCh38]
ChrX:66937302 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1370_1371insAGG (p.Gly473_Glu474insGly) |
insertion |
Androgen resistance syndrome [RCV003785246] |
ChrX:67546514..67546515 [GRCh38]
ChrX:66766356..66766357 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2449+10T>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003796049] |
ChrX:67721973 [GRCh38]
ChrX:66941815 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1686C>T (p.Ile562=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788815] |
ChrX:67643325 [GRCh38]
ChrX:66863167 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1854G>A (p.Arg618=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003792847] |
ChrX:67686095 [GRCh38]
ChrX:66905937 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.921T>C (p.Ala307=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003797263] |
ChrX:67546067 [GRCh38]
ChrX:66765909 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2465T>A (p.Leu822Gln) |
single nucleotide variant |
Androgen resistance syndrome [RCV003804270] |
ChrX:67722842 [GRCh38]
ChrX:66942684 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1617-8C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003780651] |
ChrX:67643248 [GRCh38]
ChrX:66863090 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2031C>T (p.Val677=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003795968] |
ChrX:67711547 [GRCh38]
ChrX:66931389 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2319-17G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003796746] |
ChrX:67721816 [GRCh38]
ChrX:66941658 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.496C>T (p.Leu166=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003781242] |
ChrX:67545642 [GRCh38]
ChrX:66765484 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2703T>C (p.Ser901=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003804808] |
ChrX:67723781 [GRCh38]
ChrX:66943623 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2085C>T (p.Pro695=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003795539] |
ChrX:67711601 [GRCh38]
ChrX:66931443 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2721C>A (p.Ile907=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785212] |
ChrX:67723799 [GRCh38]
ChrX:66943641 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1362G>T (p.Gly454=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003795545] |
ChrX:67546508 [GRCh38]
ChrX:66766350 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1885+14C>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003786050] |
ChrX:67686140 [GRCh38]
ChrX:66905982 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1416C>T (p.Gly472=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003786443] |
ChrX:67546562 [GRCh38]
ChrX:66766404 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1542T>C (p.Tyr514=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003782481] |
ChrX:67546688 [GRCh38]
ChrX:66766530 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1890G>A (p.Arg630=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788650] |
ChrX:67711406 [GRCh38]
ChrX:66931248 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.846T>G (p.Thr282=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790634] |
ChrX:67545992 [GRCh38]
ChrX:66765834 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1836T>C (p.Cys612=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003781283] |
ChrX:67686077 [GRCh38]
ChrX:66905919 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1503T>C (p.Asp501=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003805792] |
ChrX:67546649 [GRCh38]
ChrX:66766491 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2608-7C>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003796774] |
ChrX:67723679 [GRCh38]
ChrX:66943521 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.87C>T (p.Ser29=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003797025] |
ChrX:67545233 [GRCh38]
ChrX:66765075 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1731T>C (p.Cys577=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790794] |
ChrX:67643370 [GRCh38]
ChrX:66863212 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2394C>A (p.Leu798=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790856] |
ChrX:67721908 [GRCh38]
ChrX:66941750 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.732G>A (p.Ser244=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003787048] |
ChrX:67545878 [GRCh38]
ChrX:66765720 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2607+19G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003787078] |
ChrX:67723003 [GRCh38]
ChrX:66942845 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1886-12C>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003794681] |
ChrX:67711390 [GRCh38]
ChrX:66931232 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2173+12G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003805846] |
ChrX:67711701 [GRCh38]
ChrX:66931543 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.363G>A (p.Ser121=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003806669] |
ChrX:67545509 [GRCh38]
ChrX:66765351 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1074G>C (p.Ala358=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003793085] |
ChrX:67546220 [GRCh38]
ChrX:66766062 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1885+20C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003788805] |
ChrX:67686146 [GRCh38]
ChrX:66905988 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.45G>T (p.Pro15=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790651] |
ChrX:67545191 [GRCh38]
ChrX:66765033 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2436A>G (p.Leu812=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796071] |
ChrX:67721950 [GRCh38]
ChrX:66941792 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1761C>T (p.Ala587=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003785774] |
ChrX:67643400 [GRCh38]
ChrX:66863242 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2619G>A (p.Glu873=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796450] |
ChrX:67723697 [GRCh38]
ChrX:66943539 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1675A>T (p.Thr559Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796809] |
ChrX:67643314 [GRCh38]
ChrX:66863156 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1347G>C (p.Pro449=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784433] |
ChrX:67546493 [GRCh38]
ChrX:66766335 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2319-8C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003784932] |
ChrX:67721825 [GRCh38]
ChrX:66941667 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1407C>G (p.Gly469=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788136] |
ChrX:67546553 [GRCh38]
ChrX:66766395 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1443C>T (p.Tyr481=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780922] |
ChrX:67546589 [GRCh38]
ChrX:66766431 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1392C>T (p.Gly464=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003794779] |
ChrX:67546538 [GRCh38]
ChrX:66766380 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2608-6C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003795733] |
ChrX:67723680 [GRCh38]
ChrX:66943522 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1635C>T (p.Asp545=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003779472] |
ChrX:67643274 [GRCh38]
ChrX:66863116 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1041C>G (p.Leu347=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780353] |
ChrX:67546187 [GRCh38]
ChrX:66766029 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1036T>C (p.Ser346Pro) |
single nucleotide variant |
Androgen resistance syndrome [RCV003794364] |
ChrX:67546182 [GRCh38]
ChrX:66766024 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2318+8C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003785850] |
ChrX:67717630 [GRCh38]
ChrX:66937472 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.201G>A (p.Gln67=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003806761] |
ChrX:67545347 [GRCh38]
ChrX:66765189 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1518C>G (p.Gly506=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796847] |
ChrX:67546664 [GRCh38]
ChrX:66766506 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2511G>A (p.Lys837=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003787060] |
ChrX:67722888 [GRCh38]
ChrX:66942730 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2345A>G (p.Tyr782Cys) |
single nucleotide variant |
Androgen resistance syndrome [RCV003805079] |
ChrX:67721859 [GRCh38]
ChrX:66941701 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2148G>A (p.Val716=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784541] |
ChrX:67711664 [GRCh38]
ChrX:66931506 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.150C>T (p.Pro50=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003781735] |
ChrX:67545296 [GRCh38]
ChrX:66765138 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1371C>A (p.Gly457=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796199] |
ChrX:67546517 [GRCh38]
ChrX:66766359 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2607+12A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003806454] |
ChrX:67722996 [GRCh38]
ChrX:66942838 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2180G>A (p.Arg727His) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796626] |
ChrX:67717484 [GRCh38]
ChrX:66937326 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2745C>T (p.Ile915=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796934] |
ChrX:67723823 [GRCh38]
ChrX:66943665 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1617-19G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003787591] |
ChrX:67643237 [GRCh38]
ChrX:66863079 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.609C>G (p.Ser203=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003789164] |
ChrX:67545755 [GRCh38]
ChrX:66765597 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1296C>G (p.Ser432=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796941] |
ChrX:67546442 [GRCh38]
ChrX:66766284 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.414C>T (p.Ala138=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003786600] |
ChrX:67545560 [GRCh38]
ChrX:66765402 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2607+11G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003788441] |
ChrX:67722995 [GRCh38]
ChrX:66942837 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.627G>T (p.Gly209=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003794950] |
ChrX:67545773 [GRCh38]
ChrX:66765615 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1422G>A (p.Glu474=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003796968] |
ChrX:67546568 [GRCh38]
ChrX:66766410 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2449+3A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003787736] |
ChrX:67721966 [GRCh38]
ChrX:66941808 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2319-15G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003794560] |
ChrX:67721818 [GRCh38]
ChrX:66941660 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2142A>G (p.Val714=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003792028] |
ChrX:67711658 [GRCh38]
ChrX:66931500 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2751C>T (p.Phe917=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788295] |
ChrX:67723829 [GRCh38]
ChrX:66943671 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1266C>T (p.Pro422=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790026] |
ChrX:67546412 [GRCh38]
ChrX:66766254 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.396C>T (p.Val132=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783354] |
ChrX:67545542 [GRCh38]
ChrX:66765384 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2319-13_2319-11dup |
duplication |
Androgen resistance syndrome [RCV003804491] |
ChrX:67721819..67721820 [GRCh38]
ChrX:66941661..66941662 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2196C>T (p.Asp732=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783986] |
ChrX:67717500 [GRCh38]
ChrX:66937342 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2406C>A (p.Pro802=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003791369] |
ChrX:67721920 [GRCh38]
ChrX:66941762 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2762G>A (p.Ter921=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780449] |
ChrX:67723840 [GRCh38]
ChrX:66943682 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2145C>T (p.His715=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783936] |
ChrX:67711661 [GRCh38]
ChrX:66931503 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2322C>T (p.Tyr774=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003804564] |
ChrX:67721836 [GRCh38]
ChrX:66941678 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.333T>C (p.Asp111=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780752] |
ChrX:67545479 [GRCh38]
ChrX:66765321 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.980G>A (p.Cys327Tyr) |
single nucleotide variant |
Androgen resistance syndrome [RCV003787281] |
ChrX:67546126 [GRCh38]
ChrX:66765968 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1398C>T (p.Gly466=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780778] |
ChrX:67546544 [GRCh38]
ChrX:66766386 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1824A>C (p.Arg608=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003784091] |
ChrX:67686065 [GRCh38]
ChrX:66905907 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.855C>T (p.Ala285=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780582] |
ChrX:67546001 [GRCh38]
ChrX:66765843 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1419C>G (p.Gly473=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003792842] |
ChrX:67546565 [GRCh38]
ChrX:66766407 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1323C>G (p.Ala441=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780628] |
ChrX:67546469 [GRCh38]
ChrX:66766311 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1605C>G (p.Tyr535Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783769] |
ChrX:67546751 [GRCh38]
ChrX:66766593 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2677C>T (p.Pro893Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783776] |
ChrX:67723755 [GRCh38]
ChrX:66943597 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.534C>T (p.Ser178=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003787364] |
ChrX:67545680 [GRCh38]
ChrX:66765522 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.51G>T (p.Lys17Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783520] |
ChrX:67545197 [GRCh38]
ChrX:66765039 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2450-11T>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003793820] |
ChrX:67722816 [GRCh38]
ChrX:66942658 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1104A>G (p.Pro368=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783544] |
ChrX:67546250 [GRCh38]
ChrX:66766092 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.357G>A (p.Pro119=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003782039] |
ChrX:67545503 [GRCh38]
ChrX:66765345 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1886-10T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003782011] |
ChrX:67711392 [GRCh38]
ChrX:66931234 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1146T>C (p.His382=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780703] |
ChrX:67546292 [GRCh38]
ChrX:66766134 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2233C>T (p.Leu745Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV003783773] |
ChrX:67717537 [GRCh38]
ChrX:66937379 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2318+18C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003789321] |
ChrX:67717640 [GRCh38]
ChrX:66937482 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2490A>G (p.Glu830=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780919] |
ChrX:67722867 [GRCh38]
ChrX:66942709 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.39G>A (p.Arg13=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790243] |
ChrX:67545185 [GRCh38]
ChrX:66765027 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2439C>G (p.Leu813=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780148] |
ChrX:67721953 [GRCh38]
ChrX:66941795 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2082G>A (p.Gln694=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003789383] |
ChrX:67711598 [GRCh38]
ChrX:66931440 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1325A>T (p.Glu442Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003790672] |
ChrX:67546471 [GRCh38]
ChrX:66766313 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2039C>G (p.Ala680Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV003792539] |
ChrX:67711555 [GRCh38]
ChrX:66931397 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1362G>C (p.Gly454=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003793921] |
ChrX:67546508 [GRCh38]
ChrX:66766350 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.909T>C (p.Thr303=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003782748] |
ChrX:67546055 [GRCh38]
ChrX:66765897 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2736C>G (p.Val912=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788142] |
ChrX:67723814 [GRCh38]
ChrX:66943656 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1359T>G (p.Gly453=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003793471] |
ChrX:67546505 [GRCh38]
ChrX:66766347 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.778G>A (p.Gly260Arg) |
single nucleotide variant |
Androgen resistance syndrome [RCV003793477] |
ChrX:67545924 [GRCh38]
ChrX:66765766 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1885+18_1885+21del |
deletion |
Androgen resistance syndrome [RCV003794186] |
ChrX:67686143..67686146 [GRCh38]
ChrX:66905985..66905988 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2211C>T (p.Val737=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780279] |
ChrX:67717515 [GRCh38]
ChrX:66937357 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.864C>T (p.Ala288=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003780320] |
ChrX:67546010 [GRCh38]
ChrX:66765852 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.546dup (p.Asp183fs) |
duplication |
Androgen resistance syndrome [RCV003804236] |
ChrX:67545689..67545690 [GRCh38]
ChrX:66765531..66765532 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2620C>T (p.Leu874=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003786693] |
ChrX:67723698 [GRCh38]
ChrX:66943540 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2337C>G (p.Ser779=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003788133] |
ChrX:67721851 [GRCh38]
ChrX:66941693 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1191C>T (p.Ser397=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003799808] |
ChrX:67546337 [GRCh38]
ChrX:66766179 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.414C>G (p.Ala138=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003798885] |
ChrX:67545560 [GRCh38]
ChrX:66765402 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1248C>A (p.Gly416=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809012] |
ChrX:67546394 [GRCh38]
ChrX:66766236 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2598C>A (p.Ser866=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003812656] |
ChrX:67722975 [GRCh38]
ChrX:66942817 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1014A>C (p.Thr338=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003812680] |
ChrX:67546160 [GRCh38]
ChrX:66766002 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1745T>A (p.Val582Asp) |
single nucleotide variant |
Androgen resistance syndrome [RCV003812268] |
ChrX:67643384 [GRCh38]
ChrX:66863226 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2415C>T (p.Phe805=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003797853] |
ChrX:67721929 [GRCh38]
ChrX:66941771 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1068A>T (p.Ala356=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809193] |
ChrX:67546214 [GRCh38]
ChrX:66766056 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2613G>A (p.Ala871=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003800200]|not specified [RCV004783113] |
ChrX:67723691 [GRCh38]
ChrX:66943533 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.1157G>A (p.Arg386His) |
single nucleotide variant |
Androgen resistance syndrome [RCV003801292] |
ChrX:67546303 [GRCh38]
ChrX:66766145 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.795G>A (p.Gly265=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003799194] |
ChrX:67545941 [GRCh38]
ChrX:66765783 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2421C>T (p.Cys807=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003808338] |
ChrX:67721935 [GRCh38]
ChrX:66941777 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1959T>G (p.Thr653=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809544] |
ChrX:67711475 [GRCh38]
ChrX:66931317 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.300T>C (p.His100=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003800418] |
ChrX:67545446 [GRCh38]
ChrX:66765288 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.795G>T (p.Gly265=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809580] |
ChrX:67545941 [GRCh38]
ChrX:66765783 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1281C>T (p.Pro427=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003812878] |
ChrX:67546427 [GRCh38]
ChrX:66766269 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2289C>T (p.Leu763=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003813388] |
ChrX:67717593 [GRCh38]
ChrX:66937435 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1587T>C (p.Asp529=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003808717] |
ChrX:67546733 [GRCh38]
ChrX:66766575 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.312C>T (p.Pro104=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003798521] |
ChrX:67545458 [GRCh38]
ChrX:66765300 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1885+8A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003798564] |
ChrX:67686134 [GRCh38]
ChrX:66905976 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1885+13T>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003809852] |
ChrX:67686139 [GRCh38]
ChrX:66905981 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.291C>T (p.Pro97=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003800744] |
ChrX:67545437 [GRCh38]
ChrX:66765279 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2310T>C (p.Val770=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003812498] |
ChrX:67717614 [GRCh38]
ChrX:66937456 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
Androgen resistance syndrome [RCV003808965] |
ChrX:67545313..67545314 [GRCh38]
ChrX:66765155..66765156 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2702C>T (p.Ser901Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV003813633] |
ChrX:67723780 [GRCh38]
ChrX:66943622 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1185C>T (p.Tyr395=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003799513] |
ChrX:67546331 [GRCh38]
ChrX:66766173 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.381C>G (p.Pro127=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003801832] |
ChrX:67545527 [GRCh38]
ChrX:66765369 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2460T>C (p.Asp820=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003801833] |
ChrX:67722837 [GRCh38]
ChrX:66942679 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1920A>G (p.Leu640=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003800462] |
ChrX:67711436 [GRCh38]
ChrX:66931278 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1467G>A (p.Gly489=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003808709] |
ChrX:67546613 [GRCh38]
ChrX:66766455 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1947C>T (p.Thr649=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003801214] |
ChrX:67711463 [GRCh38]
ChrX:66931305 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1212G>C (p.Ala404=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003818036] |
ChrX:67546358 [GRCh38]
ChrX:66766200 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.510T>C (p.Thr170=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003800705] |
ChrX:67545656 [GRCh38]
ChrX:66765498 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1642T>C (p.Leu548=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003800735] |
ChrX:67643281 [GRCh38]
ChrX:66863123 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.187C>T (p.Gln63Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003801744] |
ChrX:67545333 [GRCh38]
ChrX:66765175 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.609C>A (p.Ser203=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003798057] |
ChrX:67545755 [GRCh38]
ChrX:66765597 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.519C>G (p.Gly173=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003808826] |
ChrX:67545665 [GRCh38]
ChrX:66765507 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1986G>A (p.Val662=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003812651] |
ChrX:67711502 [GRCh38]
ChrX:66931344 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.593A>T (p.Gln198Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV003808849] |
ChrX:67545739 [GRCh38]
ChrX:66765581 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2464C>T (p.Leu822=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003798198] |
ChrX:67722841 [GRCh38]
ChrX:66942683 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.690G>C (p.Ser230=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003798229] |
ChrX:67545836 [GRCh38]
ChrX:66765678 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2289C>G (p.Leu763=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003800380] |
ChrX:67717593 [GRCh38]
ChrX:66937435 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2061T>C (p.Cys687=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003808998] |
ChrX:67711577 [GRCh38]
ChrX:66931419 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2481C>G (p.Phe827Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV003801553] |
ChrX:67722858 [GRCh38]
ChrX:66942700 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2450-8C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003801664] |
ChrX:67722819 [GRCh38]
ChrX:66942661 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1737C>T (p.Ser579=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003810365] |
ChrX:67643376 [GRCh38]
ChrX:66863218 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.1515T>C (p.Pro505=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003799169] |
ChrX:67546661 [GRCh38]
ChrX:66766503 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1768+15A>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003813439] |
ChrX:67643422 [GRCh38]
ChrX:66863264 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2607+10C>T |
single nucleotide variant |
AR-related disorder [RCV004755020]|Androgen resistance syndrome [RCV003798148] |
ChrX:67722994 [GRCh38]
ChrX:66942836 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.2760G>A (p.Gln920=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809448] |
ChrX:67723838 [GRCh38]
ChrX:66943680 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1374C>T (p.Gly458=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809468] |
ChrX:67546520 [GRCh38]
ChrX:66766362 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1377C>T (p.Gly459=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809471]|not provided [RCV003885383] |
ChrX:67546523 [GRCh38]
ChrX:66766365 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.948C>T (p.Tyr316=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003810581] |
ChrX:67546094 [GRCh38]
ChrX:66765936 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2526C>T (p.Ile842=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003815295] |
ChrX:67722903 [GRCh38]
ChrX:66942745 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2394C>T (p.Leu798=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003815614] |
ChrX:67721908 [GRCh38]
ChrX:66941750 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1467G>T (p.Gly489=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003815736] |
ChrX:67546613 [GRCh38]
ChrX:66766455 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1137G>A (p.Pro379=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003798789] |
ChrX:67546283 [GRCh38]
ChrX:66766125 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1722T>C (p.Ala574=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003813586] |
ChrX:67643361 [GRCh38]
ChrX:66863203 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1719A>G (p.Gly573=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003799962] |
ChrX:67643358 [GRCh38]
ChrX:66863200 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.459G>A (p.Pro153=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003799547] |
ChrX:67545605 [GRCh38]
ChrX:66765447 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2608-14A>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003810336] |
ChrX:67723672 [GRCh38]
ChrX:66943514 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1533A>G (p.Arg511=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003815430] |
ChrX:67546679 [GRCh38]
ChrX:66766521 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1617-5T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003799172] |
ChrX:67643251 [GRCh38]
ChrX:66863093 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1769-13T>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003808857] |
ChrX:67685997 [GRCh38]
ChrX:66905839 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2274C>T (p.Val758=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003799692] |
ChrX:67717578 [GRCh38]
ChrX:66937420 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2607+17G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003799725] |
ChrX:67723001 [GRCh38]
ChrX:66942843 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer) |
insertion |
Androgen resistance syndrome [RCV003815673] |
ChrX:67545476..67545477 [GRCh38]
ChrX:66765318..66765319 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1844del (p.Cys615fs) |
deletion |
Androgen resistance syndrome [RCV003815492] |
ChrX:67686085 [GRCh38]
ChrX:66905927 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2073C>T (p.Asp691=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809035] |
ChrX:67711589 [GRCh38]
ChrX:66931431 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.462C>T (p.Asp154=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003810358] |
ChrX:67545608 [GRCh38]
ChrX:66765450 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.119G>A (p.Arg40Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV003808760] |
ChrX:67545265 [GRCh38]
ChrX:66765107 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.270G>T (p.Gln90His) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809799] |
ChrX:67545416 [GRCh38]
ChrX:66765258 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2232G>T (p.Gly744=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003809973] |
ChrX:67717536 [GRCh38]
ChrX:66937378 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2225G>A (p.Trp742Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802931] |
ChrX:67717529 [GRCh38]
ChrX:66937371 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1413C>T (p.Gly471=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003803415]|Inborn genetic diseases [RCV004661777] |
ChrX:67546559 [GRCh38]
ChrX:66766401 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1885+13T>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003802354] |
ChrX:67686139 [GRCh38]
ChrX:66905981 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.2115C>T (p.Leu705=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802355] |
ChrX:67711631 [GRCh38]
ChrX:66931473 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1395C>T (p.Gly465=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802325] |
ChrX:67546541 [GRCh38]
ChrX:66766383 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1150dup (p.His384fs) |
duplication |
Androgen resistance syndrome [RCV003802670] |
ChrX:67546292..67546293 [GRCh38]
ChrX:66766134..66766135 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1886-4A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003802038] |
ChrX:67711398 [GRCh38]
ChrX:66931240 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1365TGG[1] (p.Gly473del) |
microsatellite |
Androgen resistance syndrome [RCV003803732] |
ChrX:67546509..67546511 [GRCh38]
ChrX:66766351..66766353 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2449+17G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003803875] |
ChrX:67721980 [GRCh38]
ChrX:66941822 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2097A>G (p.Ala699=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802499] |
ChrX:67711613 [GRCh38]
ChrX:66931455 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1768+15A>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003803625] |
ChrX:67643422 [GRCh38]
ChrX:66863264 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer) |
deletion |
Androgen resistance syndrome [RCV003802424] |
ChrX:67722882 [GRCh38]
ChrX:66942724 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1768+14C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003802005] |
ChrX:67643421 [GRCh38]
ChrX:66863263 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1812T>C (p.Ile604=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802031] |
ChrX:67686053 [GRCh38]
ChrX:66905895 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer) |
microsatellite |
Androgen resistance syndrome [RCV003802553] |
ChrX:67545369..67545370 [GRCh38]
ChrX:66765211..66765212 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1768+7G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003803963] |
ChrX:67643414 [GRCh38]
ChrX:66863256 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1338G>A (p.Leu446=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003803024] |
ChrX:67546484 [GRCh38]
ChrX:66766326 [GRCh37]
ChrX:Xq12 |
likely benign |
| GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848) |
copy number gain |
not specified [RCV003986211] |
ChrX:61877278..79122848 [GRCh37]
ChrX:Xq11.1-21.1 |
pathogenic |
| NM_000044.6(AR):c.1368_1376dup (p.Gly473_Glu474insGlyGlyGly) |
duplication |
AR-related disorder [RCV003984453]|not provided [RCV003884858] |
ChrX:67546511..67546512 [GRCh38]
ChrX:66766353..66766354 [GRCh37]
ChrX:Xq12 |
benign|likely benign |
| NM_000044.6(AR):c.35del (p.Pro12fs) |
deletion |
Androgen resistance syndrome [RCV003985976] |
ChrX:67545179 [GRCh38]
ChrX:66765021 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| GRCh37/hg19 Xq12(chrX:66671409-66776303) |
copy number loss |
not specified [RCV003986248] |
ChrX:66671409..66776303 [GRCh37]
ChrX:Xq12 |
pathogenic |
| GRCh37/hg19 Xq12-13.1(chrX:66896135-68529063) |
copy number gain |
not specified [RCV003986307] |
ChrX:66896135..68529063 [GRCh37]
ChrX:Xq12-13.1 |
uncertain significance |
| NM_000044.6(AR):c.2449+1G>A |
single nucleotide variant |
Androgen resistance syndrome [RCV003985963] |
ChrX:67721964 [GRCh38]
ChrX:66941806 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1707G>A (p.Gly569=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003803011] |
ChrX:67643346 [GRCh38]
ChrX:66863188 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1873A>G (p.Met625Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV003986003] |
ChrX:67686114 [GRCh38]
ChrX:66905956 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2319-1G>C |
single nucleotide variant |
Androgen resistance syndrome [RCV003802052] |
ChrX:67721832 [GRCh38]
ChrX:66941674 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1885+13T>G |
single nucleotide variant |
Androgen resistance syndrome [RCV003803314] |
ChrX:67686139 [GRCh38]
ChrX:66905981 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2592G>T (p.Leu864=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003803377] |
ChrX:67722969 [GRCh38]
ChrX:66942811 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2598C>T (p.Ser866=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003803812] |
ChrX:67722975 [GRCh38]
ChrX:66942817 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2079C>G (p.Asn693Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV003986047] |
ChrX:67711595 [GRCh38]
ChrX:66931437 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1149C>G (p.Pro383=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802916] |
ChrX:67546295 [GRCh38]
ChrX:66766137 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.597G>A (p.Gln199=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802241] |
ChrX:67545743 [GRCh38]
ChrX:66765585 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2319-9C>T |
single nucleotide variant |
Androgen resistance syndrome [RCV003802307] |
ChrX:67721824 [GRCh38]
ChrX:66941666 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.360G>A (p.Gln120=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802943] |
ChrX:67545506 [GRCh38]
ChrX:66765348 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1977G>A (p.Lys659=) |
single nucleotide variant |
Androgen resistance syndrome [RCV003802918] |
ChrX:67711493 [GRCh38]
ChrX:66931335 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1386C>G (p.Gly462=) |
single nucleotide variant |
not provided [RCV003993095] |
ChrX:67546532 [GRCh38]
ChrX:66766374 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1024C>T (p.Pro342Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004420082] |
ChrX:67546170 [GRCh38]
ChrX:66766012 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1886-3T>A |
single nucleotide variant |
not provided [RCV004546093] |
ChrX:67711399 [GRCh38]
ChrX:66931241 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.171GCA[8] (p.Gln66_Gln80del) |
microsatellite |
AR-related disorder [RCV003949726] |
ChrX:67545317..67545361 [GRCh38]
ChrX:66765159..66765203 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2743del (p.Ile915fs) |
deletion |
AR-related disorder [RCV003983406] |
ChrX:67723821 [GRCh38]
ChrX:66943663 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.937A>G (p.Lys313Glu) |
single nucleotide variant |
Male infertility [RCV003983761] |
ChrX:67546083 [GRCh38]
ChrX:66765925 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1005C>G (p.Ser335Arg) |
single nucleotide variant |
Male infertility [RCV003983762] |
ChrX:67546151 [GRCh38]
ChrX:66765993 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1141C>T (p.Pro381Ser) |
single nucleotide variant |
Male infertility [RCV003983763] |
ChrX:67546287 [GRCh38]
ChrX:66766129 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1223A>G (p.Tyr408Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004369923]|Male infertility [RCV003983764] |
ChrX:67546369 [GRCh38]
ChrX:66766211 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1244A>G (p.His415Arg) |
single nucleotide variant |
Male infertility [RCV003983765] |
ChrX:67546390 [GRCh38]
ChrX:66766232 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1852C>T (p.Arg618Trp) |
single nucleotide variant |
Male infertility [RCV003983766] |
ChrX:67686093 [GRCh38]
ChrX:66905935 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2059T>C (p.Cys687Arg) |
single nucleotide variant |
Male infertility [RCV003983767] |
ChrX:67711575 [GRCh38]
ChrX:66931417 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2360G>A (p.Arg787Gln) |
single nucleotide variant |
Male infertility [RCV003983768] |
ChrX:67721874 [GRCh38]
ChrX:66941716 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.865G>A (p.Glu289Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV005216206]|Inborn genetic diseases [RCV004420083] |
ChrX:67546011 [GRCh38]
ChrX:66765853 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1350TGG[3] (p.Gly473del) |
microsatellite |
AR-related disorder [RCV003937090] |
ChrX:67546495..67546497 [GRCh38]
ChrX:66766337..66766339 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.-543C>A |
single nucleotide variant |
AR-related disorder [RCV003941756] |
ChrX:67544604 [GRCh38]
ChrX:66764446 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.277G>A (p.Glu93Lys) |
single nucleotide variant |
Male infertility [RCV003983760] |
ChrX:67545423 [GRCh38]
ChrX:66765265 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1337T>G (p.Leu446Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004953677]|not provided [RCV004547050] |
ChrX:67546483 [GRCh38]
ChrX:66766325 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.171GCA[9] (p.Gln67_Gln80del) |
microsatellite |
AR-related disorder [RCV003964214] |
ChrX:67545317..67545358 [GRCh38]
ChrX:66765159..66765200 [GRCh37]
ChrX:Xq12 |
benign |
| NM_000044.6(AR):c.972C>T (p.Ser324=) |
single nucleotide variant |
not specified [RCV003988212] |
ChrX:67546118 [GRCh38]
ChrX:66765960 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1793G>T (p.Ser598Ile) |
single nucleotide variant |
Androgen resistance syndrome [RCV003989054] |
ChrX:67686034 [GRCh38]
ChrX:66905876 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1616+1_1616+2dup |
duplication |
AR-related disorder [RCV003943869] |
ChrX:67546762..67546763 [GRCh38]
ChrX:66766604..66766605 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1944C>T (p.Ser648=) |
single nucleotide variant |
AR-related disorder [RCV003944003] |
ChrX:67711460 [GRCh38]
ChrX:66931302 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1286C>A (p.Ala429Asp) |
single nucleotide variant |
Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991619] |
ChrX:67546432 [GRCh38]
ChrX:66766274 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NC_000023.11:g.(?_66445907)_(78172208_?)dup |
duplication |
Xq13q21 duplication [RCV003885331] |
ChrX:66445907..78172208 [GRCh38]
ChrX:Xq12-21.1 |
pathogenic |
| NM_000044.6(AR):c.2201A>G (p.Gln734Arg) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV003992120] |
ChrX:67717505 [GRCh38]
ChrX:66937347 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 |
copy number gain |
Klinefelter syndrome [RCV004579655] |
ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| NC_000023.10:g.(?_63409759)_(71933728_?)dup |
duplication |
not provided [RCV004582202] |
ChrX:63409759..71933728 [GRCh37]
ChrX:Xq11.2-13.2 |
uncertain significance |
| NC_000023.10:g.(?_66863078)_(67339194_?)dup |
duplication |
not provided [RCV004580645] |
ChrX:66863078..67339194 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1098C>G (p.Asn366Lys) |
single nucleotide variant |
not provided [RCV004698311] |
ChrX:67546244 [GRCh38]
ChrX:66766086 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2293T>C (p.Phe765Leu) |
single nucleotide variant |
not provided [RCV004698312] |
ChrX:67717597 [GRCh38]
ChrX:66937439 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1084C>G (p.Arg362Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004664872] |
ChrX:67546230 [GRCh38]
ChrX:66766072 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NC_000023.10:g.(?_66863078)_(66863269_?)del |
deletion |
Androgen resistance syndrome [RCV004578338] |
ChrX:66863078..66863269 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1835G>C (p.Cys612Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV004595378] |
ChrX:67686076 [GRCh38]
ChrX:66905918 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2521C>A (p.Arg841Ser) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV004585152] |
ChrX:67722898 [GRCh38]
ChrX:66942740 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1954C>G (p.Pro652Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004664877] |
ChrX:67711470 [GRCh38]
ChrX:66931312 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1370GCG[23] (p.Gly473_Glu474insGlyGlyGlyGlyGlyGly) |
microsatellite |
AR-related disorder [RCV004755591] |
ChrX:67546514..67546515 [GRCh38]
ChrX:66766356..66766357 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.171GCA[44] (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
AR-related disorder [RCV004755562] |
ChrX:67545316..67545317 [GRCh38]
ChrX:66765158..66765159 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1520G>A (p.Gly507Asp) |
single nucleotide variant |
not specified [RCV004800060] |
ChrX:67546666 [GRCh38]
ChrX:66766508 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NC_000023.10:g.(?_54610638)_(154689386_?)dup |
duplication |
Hereditary factor VIII deficiency disease [RCV004768478] |
ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28 |
uncertain significance |
| NM_000044.6(AR):c.88G>A (p.Val30Met) |
single nucleotide variant |
not specified [RCV004699735] |
ChrX:67545234 [GRCh38]
ChrX:66765076 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2673_2675dup (p.Phe892_Pro893insPhe) |
duplication |
AR-related disorder [RCV004730795] |
ChrX:67723750..67723751 [GRCh38]
ChrX:66943592..66943593 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.260dup (p.Gln88fs) |
duplication |
AR-related disorder [RCV004755147] |
ChrX:67545405..67545406 [GRCh38]
ChrX:66765247..66765248 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2318+3_2318+6del |
deletion |
Androgen resistance syndrome [RCV004771819] |
ChrX:67717622..67717625 [GRCh38]
ChrX:66937464..66937467 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2612C>G (p.Ala871Gly) |
single nucleotide variant |
Partial androgen insensitivity syndrome [RCV004764269] |
|
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.2063C>T (p.Ala688Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV005221005]|not provided [RCV004721894] |
ChrX:67711579 [GRCh38]
ChrX:66931421 [GRCh37]
ChrX:Xq12 |
pathogenic|likely pathogenic |
| NM_000044.6(AR):c.-547C>T |
single nucleotide variant |
AR-related disorder [RCV004755440] |
ChrX:67544600 [GRCh38]
ChrX:66764442 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.545A>C (p.Lys182Thr) |
single nucleotide variant |
not provided [RCV004770797] |
ChrX:67545691 [GRCh38]
ChrX:66765533 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1421_1425dup (p.Gly476fs) |
duplication |
Androgen resistance syndrome [RCV004719056] |
ChrX:67546562..67546563 [GRCh38]
ChrX:66766404..66766405 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1095C>A (p.Tyr365Ter) |
single nucleotide variant |
Complete androgen insensitivity syndrome [RCV004723631] |
ChrX:67546241 [GRCh38]
ChrX:66766083 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1277C>A (p.Ser426Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV004720199] |
ChrX:67546423 [GRCh38]
ChrX:66766265 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1459C>A (p.Pro487Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004962040] |
ChrX:67546605 [GRCh38]
ChrX:66766447 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1073C>A (p.Ala358Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004962048] |
ChrX:67546219 [GRCh38]
ChrX:66766061 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.758C>G (p.Ala253Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004962049] |
ChrX:67545904 [GRCh38]
ChrX:66765746 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1828A>G (p.Lys610Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV005002054] |
ChrX:67686069 [GRCh38]
ChrX:66905911 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.610G>T (p.Glu204Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV005041888] |
ChrX:67545756 [GRCh38]
ChrX:66765598 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2317_2318+2del |
deletion |
not provided [RCV005054583] |
ChrX:67717620..67717623 [GRCh38]
ChrX:66937462..66937465 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2637del (p.Phe879fs) |
deletion |
Androgen resistance syndrome [RCV005215164] |
ChrX:67723712 [GRCh38]
ChrX:66943554 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2148_2150del (p.Val717del) |
deletion |
Androgen resistance syndrome [RCV005212427] |
ChrX:67711662..67711664 [GRCh38]
ChrX:66931504..66931506 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1281C>A (p.Pro427=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005214597] |
ChrX:67546427 [GRCh38]
ChrX:66766269 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2669T>C (p.Val890Ala) |
single nucleotide variant |
Androgen resistance syndrome [RCV005215265] |
ChrX:67723747 [GRCh38]
ChrX:66943589 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2323C>G (p.Arg775Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV005214846] |
ChrX:67721837 [GRCh38]
ChrX:66941679 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.1240C>T (p.Leu414=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005211429] |
ChrX:67546386 [GRCh38]
ChrX:66766228 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2608-16_2608-15del |
deletion |
Androgen resistance syndrome [RCV005226763] |
ChrX:67723670..67723671 [GRCh38]
ChrX:66943512..66943513 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.928_929del (p.Ser310fs) |
deletion |
Androgen resistance syndrome [RCV005212349] |
ChrX:67546074..67546075 [GRCh38]
ChrX:66765916..66765917 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.858A>G (p.Pro286=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005226012] |
ChrX:67546004 [GRCh38]
ChrX:66765846 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2714C>T (p.Pro905Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV005226527] |
ChrX:67723792 [GRCh38]
ChrX:66943634 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.150C>A (p.Pro50=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005227006] |
ChrX:67545296 [GRCh38]
ChrX:66765138 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.987C>A (p.Gly329=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005210475] |
ChrX:67546133 [GRCh38]
ChrX:66765975 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1076A>T (p.Tyr359Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV005212673] |
ChrX:67546222 [GRCh38]
ChrX:66766064 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.243_244del (p.Glu81fs) |
microsatellite |
Androgen resistance syndrome [RCV005226128] |
ChrX:67545386..67545387 [GRCh38]
ChrX:66765228..66765229 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1769-3C>A |
single nucleotide variant |
Androgen resistance syndrome [RCV005213119] |
ChrX:67686007 [GRCh38]
ChrX:66905849 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.744C>T (p.Gly248=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005228862] |
ChrX:67545890 [GRCh38]
ChrX:66765732 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1757G>A (p.Arg586Lys) |
single nucleotide variant |
Androgen resistance syndrome [RCV005223693] |
ChrX:67643396 [GRCh38]
ChrX:66863238 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2246C>T (p.Ala749Val) |
single nucleotide variant |
Disorder of sexual differentiation [RCV005235838] |
ChrX:67717550 [GRCh38]
ChrX:66937392 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2421C>A (p.Cys807Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV005217952] |
ChrX:67721935 [GRCh38]
ChrX:66941777 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1307_1310dup (p.Leu438fs) |
microsatellite |
Androgen resistance syndrome [RCV005221322] |
ChrX:67546451..67546452 [GRCh38]
ChrX:66766293..66766294 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2408A>T (p.Gln803Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV005220599] |
ChrX:67721922 [GRCh38]
ChrX:66941764 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.160_162dup (p.Leu57_Gln58insLeu) |
duplication |
Androgen resistance syndrome [RCV005224451] |
ChrX:67545305..67545306 [GRCh38]
ChrX:66765147..66765148 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.1144C>T (p.His382Tyr) |
single nucleotide variant |
not specified [RCV005240014] |
ChrX:67546290 [GRCh38]
ChrX:66766132 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2013G>A (p.Gln671=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005224917] |
ChrX:67711529 [GRCh38]
ChrX:66931371 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1747TTC[1] (p.Phe584del) |
microsatellite |
Androgen resistance syndrome [RCV005223692] |
ChrX:67643384..67643386 [GRCh38]
ChrX:66863226..66863228 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2575C>T (p.Gln859Ter) |
single nucleotide variant |
Androgen resistance syndrome [RCV005223820] |
ChrX:67722952 [GRCh38]
ChrX:66942794 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.732G>C (p.Ser244=) |
single nucleotide variant |
Androgen resistance syndrome [RCV005221252] |
ChrX:67545878 [GRCh38]
ChrX:66765720 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2347A>G (p.Ser783Gly) |
single nucleotide variant |
Androgen resistance syndrome [RCV005224899] |
ChrX:67721861 [GRCh38]
ChrX:66941703 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2311T>C (p.Phe771Leu) |
single nucleotide variant |
Androgen resistance syndrome [RCV005220203] |
ChrX:67717615 [GRCh38]
ChrX:66937457 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.466_475del (p.Asp156fs) |
deletion |
Androgen resistance syndrome [RCV005220328] |
ChrX:67545610..67545619 [GRCh38]
ChrX:66765452..66765461 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.241_242insCA (p.Glu81fs) |
insertion |
Androgen resistance syndrome [RCV005224017] |
ChrX:67545387..67545388 [GRCh38]
ChrX:66765229..66765230 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2209G>T (p.Val737Phe) |
single nucleotide variant |
Androgen resistance syndrome [RCV005220461] |
ChrX:67717513 [GRCh38]
ChrX:66937355 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.239_240insGC (p.Glu81fs) |
insertion |
Androgen resistance syndrome [RCV005217257] |
ChrX:67545385..67545386 [GRCh38]
ChrX:66765227..66765228 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.1768+13G>T |
single nucleotide variant |
Androgen resistance syndrome [RCV005217305] |
ChrX:67643420 [GRCh38]
ChrX:66863262 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.1519G>A (p.Gly507Ser) |
single nucleotide variant |
Androgen resistance syndrome [RCV005220073] |
ChrX:67546665 [GRCh38]
ChrX:66766507 [GRCh37]
ChrX:Xq12 |
likely benign |
| NM_000044.6(AR):c.2696T>A (p.Ile899Asn) |
single nucleotide variant |
Androgen resistance syndrome [RCV005215630] |
ChrX:67723774 [GRCh38]
ChrX:66943616 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2046G>T (p.Glu682Asp) |
single nucleotide variant |
Androgen resistance syndrome [RCV005223695] |
ChrX:67711562 [GRCh38]
ChrX:66931404 [GRCh37]
ChrX:Xq12 |
likely pathogenic |
| NM_000044.6(AR):c.2297C>T (p.Ala766Val) |
single nucleotide variant |
Androgen resistance syndrome [RCV005223696] |
ChrX:67717601 [GRCh38]
ChrX:66937443 [GRCh37]
ChrX:Xq12 |
uncertain significance |
| NM_000044.6(AR):c.2612C>A (p.Ala871Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV005223697] |
ChrX:67723690 [GRCh38]
ChrX:66943532 [GRCh37]
ChrX:Xq12 |
pathogenic |
| NM_000044.6(AR):c.2716A>G (p.Lys906Glu) |
single nucleotide variant |
Androgen resistance syndrome [RCV005223698] |
ChrX:67723794 [GRCh38]
ChrX:66943636 [GRCh37]
ChrX:Xq12 |
uncertain significance |
