| 13213421 | CV430949 | single nucleotide variant | NM_153252.5(BRWD3):c.-8G>C | not specified [RCV000499996] | uncertain significance | X | 80809479 | 80809479 | Human | | name |
| 596924431 | CV3531827 | deletion | NM_153252.4(BRWD3):c.593del | not provided [RCV004781389] | pathogenic | X | 80744252 | 80744252 | Human | | name |
| 126744572 | CV1019090 | single nucleotide variant | NM_153252.5(BRWD3):c.90+5G>A | Intellectual disability, X-linked 93 [RCV001330467] | uncertain significance | X | 80809241 | 80809241 | Human | 1 | name |
| 11627270 | CV349101 | single nucleotide variant | NM_153252.5(BRWD3):c.*121C>G | Intellectual disability, X-linked 93 [RCV000278679] | uncertain significance | X | 80676488 | 80676488 | Human | 1 | name |
| 28877928 | CV903235 | single nucleotide variant | NM_153252.5(BRWD3):c.*847G>A | Intellectual disability, X-linked 93 [RCV001166592] | uncertain significance | X | 80675762 | 80675762 | Human | 1 | name |
| 28877932 | CV903236 | single nucleotide variant | NM_153252.5(BRWD3):c.*802A>G | Intellectual disability, X-linked 93 [RCV001166593] | uncertain significance | X | 80675807 | 80675807 | Human | 1 | name |
| 38598639 | CV903237 | single nucleotide variant | NM_153252.5(BRWD3):c.*799C>A | Intellectual disability, X-linked 93 [RCV001253927] | uncertain significance | X | 80675810 | 80675810 | Human | 1 | name |
| 38598640 | CV903238 | single nucleotide variant | NM_153252.5(BRWD3):c.*575G>T | Intellectual disability, X-linked 93 [RCV001253928] | benign | X | 80676034 | 80676034 | Human | 1 | name |
| 28877935 | CV903239 | single nucleotide variant | NM_153252.5(BRWD3):c.*248C>T | Intellectual disability, X-linked 93 [RCV001166594] | uncertain significance | X | 80676361 | 80676361 | Human | 1 | name |
| 28878144 | CV903249 | single nucleotide variant | NM_153252.5(BRWD3):c.-229C>T | Intellectual disability, X-linked 93 [RCV001166658] | benign | X | 80809700 | 80809700 | Human | 1 | name |
| 28878149 | CV903492 | single nucleotide variant | NM_153252.5(BRWD3):c.-267C>T | Intellectual disability, X-linked 93 [RCV001166659] | uncertain significance | X | 80809738 | 80809738 | Human | 1 | name |
| 127244085 | CV1056813 | single nucleotide variant | NM_153252.5(BRWD3):c.331+1G>A | not provided [RCV001377206] | likely pathogenic | X | 80793621 | 80793621 | Human | | name |
| 150331937 | CV1173610 | single nucleotide variant | NM_153252.5(BRWD3):c.91-94A>G | not provided [RCV001538838] | benign | X | 80809136 | 80809136 | Human | | name |
| 150411513 | CV1182509 | duplication | NM_153252.5(BRWD3):c.31+23dup | Intellectual disability, X-linked 93 [RCV001553919]|not provided [RCV001673197] | benign | X | 80809411 | 80809412 | Human | 1 | name |
| 150426689 | CV1189173 | single nucleotide variant | NM_153252.5(BRWD3):c.591+4A>C | not provided [RCV001559896] | uncertain significance | X | 80745565 | 80745565 | Human | | name |
| 156248145 | CV1953642 | single nucleotide variant | NM_153252.5(BRWD3):c.32-13C>T | not provided [RCV002576452] | benign | X | 80809317 | 80809317 | Human | | name |
| 156395774 | CV1958920 | single nucleotide variant | NM_153252.5(BRWD3):c.32-16C>T | not provided [RCV002584345] | likely benign | X | 80809320 | 80809320 | Human | | name |
| 156151698 | CV2125005 | single nucleotide variant | NM_153252.5(BRWD3):c.120+6G>T | not provided [RCV002928925] | uncertain significance | X | 80809007 | 80809007 | Human | | name |
| 405268292 | CV3187009 | single nucleotide variant | NM_153252.5(BRWD3):c.121-4C>T | not provided [RCV003887092] | uncertain significance | X | 80808602 | 80808602 | Human | | name |
| 11625058 | CV339571 | single nucleotide variant | NM_153252.5(BRWD3):c.*6640T>A | Intellectual disability, X-linked 93 [RCV000394522] | benign|likely benign | X | 80669969 | 80669969 | Human | 1 | name |
| 11618108 | CV339572 | single nucleotide variant | NM_153252.5(BRWD3):c.*6439G>A | Intellectual disability, X-linked 93 [RCV000310851]|not provided [RCV003221964] | likely benign|uncertain significance | X | 80670170 | 80670170 | Human | 1 | name |
| 11613966 | CV339575 | single nucleotide variant | NM_153252.5(BRWD3):c.*5993G>C | Intellectual disability, X-linked 93 [RCV000273349] | benign | X | 80670616 | 80670616 | Human | 1 | name |
| 11623450 | CV339580 | single nucleotide variant | NM_153252.5(BRWD3):c.*5333G>T | Intellectual disability, X-linked 93 [RCV000372780] | benign|likely benign | X | 80671276 | 80671276 | Human | 1 | name |
| 11619381 | CV339584 | single nucleotide variant | NM_153252.5(BRWD3):c.*5133G>T | Intellectual disability, X-linked 93 [RCV000324640] | benign|likely benign | X | 80671476 | 80671476 | Human | 1 | name |
| 11615685 | CV339591 | single nucleotide variant | NM_153252.5(BRWD3):c.*4194C>A | Intellectual disability, X-linked 93 [RCV000288046]|not provided [RCV004703899] | likely benign | X | 80672415 | 80672415 | Human | 1 | name |
| 11621169 | CV339593 | single nucleotide variant | NM_153252.5(BRWD3):c.*3850G>C | Intellectual disability, X-linked 93 [RCV000345459]|not provided [RCV004713906] | benign | X | 80672759 | 80672759 | Human | 1 | name |
| 11617444 | CV339599 | single nucleotide variant | NM_153252.5(BRWD3):c.*2626C>T | Intellectual disability, X-linked 93 [RCV000304344] | uncertain significance | X | 80673983 | 80673983 | Human | 1 | name |
| 11619383 | CV339600 | single nucleotide variant | NM_153252.5(BRWD3):c.*1895C>G | Intellectual disability, X-linked 93 [RCV000325051] | uncertain significance | X | 80674714 | 80674714 | Human | 1 | name |
| 11624134 | CV339601 | single nucleotide variant | NM_153252.5(BRWD3):c.*1703T>C | Intellectual disability, X-linked 93 [RCV000382019] | uncertain significance | X | 80674906 | 80674906 | Human | 1 | name |
| 11624425 | CV339603 | single nucleotide variant | NM_153252.5(BRWD3):c.*1372T>A | Intellectual disability, X-linked 93 [RCV000386110]|not provided [RCV004713910] | benign | X | 80675237 | 80675237 | Human | 1 | name |
| 407426947 | CV3411747 | single nucleotide variant | NM_153252.5(BRWD3):c.431-5T>C | not provided [RCV004590925] | uncertain significance | X | 80745734 | 80745734 | Human | | name |
| 11630120 | CV349050 | single nucleotide variant | NM_153252.5(BRWD3):c.*6957C>G | Intellectual disability, X-linked 93 [RCV000341927] | uncertain significance | X | 80669652 | 80669652 | Human | 1 | name |
| 11632107 | CV349051 | single nucleotide variant | NM_153252.5(BRWD3):c.*6197T>C | Intellectual disability, X-linked 93 [RCV000398724] | uncertain significance | X | 80670412 | 80670412 | Human | 1 | name |
| 11629039 | CV349056 | single nucleotide variant | NM_153252.5(BRWD3):c.*6157C>T | Intellectual disability, X-linked 93 [RCV000314296] | benign | X | 80670452 | 80670452 | Human | 1 | name |
| 11628981 | CV349057 | single nucleotide variant | NM_153252.5(BRWD3):c.*5790G>A | Intellectual disability, X-linked 93 [RCV000312200]|not provided [RCV003437159] | likely benign|uncertain significance | X | 80670819 | 80670819 | Human | 1 | name |
| 11632121 | CV349059 | single nucleotide variant | NM_153252.5(BRWD3):c.*3787T>C | Intellectual disability, X-linked 93 [RCV000399001] | benign | X | 80672822 | 80672822 | Human | 1 | name |
| 11628884 | CV349062 | single nucleotide variant | NM_153252.5(BRWD3):c.*3483G>A | Intellectual disability, X-linked 93 [RCV000311372]|not provided [RCV004713907] | benign | X | 80673126 | 80673126 | Human | 1 | name |
| 11630429 | CV349065 | single nucleotide variant | NM_153252.5(BRWD3):c.*3083G>T | Intellectual disability, X-linked 93 [RCV000349897] | uncertain significance | X | 80673526 | 80673526 | Human | 1 | name |
| 11632205 | CV349067 | single nucleotide variant | NM_153252.5(BRWD3):c.*2877G>A | Intellectual disability, X-linked 93 [RCV000401149]|not provided [RCV004696182] | likely benign|uncertain significance | X | 80673732 | 80673732 | Human | 1 | name |
| 11628366 | CV349071 | single nucleotide variant | NM_153252.5(BRWD3):c.*2831C>T | Intellectual disability, X-linked 93 [RCV000300650]|not provided [RCV004713908] | benign | X | 80673778 | 80673778 | Human | 1 | name |
| 11630859 | CV349072 | single nucleotide variant | NM_153252.5(BRWD3):c.*2594T>C | Intellectual disability, X-linked 93 [RCV000361422] | uncertain significance | X | 80674015 | 80674015 | Human | 1 | name |
| 11629367 | CV349075 | single nucleotide variant | NM_153252.5(BRWD3):c.*2323G>A | Intellectual disability, X-linked 93 [RCV000321421] | benign|likely benign | X | 80674286 | 80674286 | Human | 1 | name |
| 11628063 | CV349082 | single nucleotide variant | NM_153252.5(BRWD3):c.*1592G>C | Intellectual disability, X-linked 93 [RCV000294816] | benign|likely benign | X | 80675017 | 80675017 | Human | 1 | name |
| 11629774 | CV349093 | single nucleotide variant | NM_153252.5(BRWD3):c.*1473T>A | Intellectual disability, X-linked 93 [RCV000333380] | uncertain significance | X | 80675136 | 80675136 | Human | 1 | name |
| 11631555 | CV352448 | single nucleotide variant | NM_153252.5(BRWD3):c.*6902G>A | Intellectual disability, X-linked 93 [RCV000380586] | benign|likely benign | X | 80669707 | 80669707 | Human | 1 | name |
| 11627540 | CV352449 | single nucleotide variant | NM_153252.5(BRWD3):c.*6871G>T | Intellectual disability, X-linked 93 [RCV000283815] | likely benign|uncertain significance | X | 80669738 | 80669738 | Human | 1 | name |
| 11626371 | CV352450 | single nucleotide variant | NM_153252.5(BRWD3):c.*5481A>C | Intellectual disability, X-linked 93 [RCV000262882]|not provided [RCV004713903] | benign | X | 80671128 | 80671128 | Human | 1 | name |
| 11626607 | CV352451 | single nucleotide variant | NM_153252.5(BRWD3):c.*5264G>T | Intellectual disability, X-linked 93 [RCV000267167] | benign|uncertain significance | X | 80671345 | 80671345 | Human | 1 | name |
| 11631393 | CV352452 | single nucleotide variant | NM_153252.5(BRWD3):c.*4809T>G | Intellectual disability, X-linked 93 [RCV000376873] | benign|likely benign | X | 80671800 | 80671800 | Human | 1 | name |
| 11627620 | CV352453 | single nucleotide variant | NM_153252.5(BRWD3):c.*4581C>T | Intellectual disability, X-linked 93 [RCV000284648] | uncertain significance | X | 80672028 | 80672028 | Human | 1 | name |
| 11630598 | CV352454 | single nucleotide variant | NM_153252.5(BRWD3):c.*2744A>G | Intellectual disability, X-linked 93 [RCV000353435] | likely benign | X | 80673865 | 80673865 | Human | 1 | name |
| 11630965 | CV352455 | single nucleotide variant | NM_153252.5(BRWD3):c.*2154A>G | Intellectual disability, X-linked 93 [RCV000364544]|not provided [RCV004696183] | likely benign|uncertain significance | X | 80674455 | 80674455 | Human | 1 | name |
| 11628028 | CV352456 | single nucleotide variant | NM_153252.5(BRWD3):c.*1036A>C | Intellectual disability, X-linked 93 [RCV000294164]|not provided [RCV004713911] | benign | X | 80675573 | 80675573 | Human | 1 | name |
| 11630094 | CV352952 | single nucleotide variant | NM_153252.5(BRWD3):c.*6862T>C | Intellectual disability, X-linked 93 [RCV000341194] | benign | X | 80669747 | 80669747 | Human | 2 | name |
| 11630094 | CV352952 | single nucleotide variant | NM_153252.5(BRWD3):c.*6862T>C | Intellectual disability, X-linked 93 [RCV000341194] | benign | X | 80669747 | 80669748 | Human | 2 | name |
| 11630226 | CV352953 | single nucleotide variant | NM_153252.5(BRWD3):c.*6248A>G | Intellectual disability, X-linked 93 [RCV000344697] | uncertain significance | X | 80670361 | 80670361 | Human | 1 | name |
| 11631178 | CV352954 | duplication | NM_153252.5(BRWD3):c.*6025dup | Non-syndromic X-linked intellectual disability [RCV000370337] | likely benign | X | 80670583 | 80670584 | Human | 1 | name |
| 11630639 | CV352955 | single nucleotide variant | NM_153252.5(BRWD3):c.*5514T>C | Intellectual disability, X-linked 93 [RCV000355293] | uncertain significance | X | 80671095 | 80671095 | Human | 1 | name |
| 11629109 | CV352956 | single nucleotide variant | NM_153252.5(BRWD3):c.*5461T>G | Intellectual disability, X-linked 93 [RCV000315808]|not provided [RCV004713904] | benign | X | 80671148 | 80671148 | Human | 1 | name |
| 11630290 | CV352957 | single nucleotide variant | NM_153252.5(BRWD3):c.*4272C>T | Intellectual disability, X-linked 93 [RCV000346649] | benign|likely benign | X | 80672337 | 80672337 | Human | 1 | name |
| 11631657 | CV352958 | single nucleotide variant | NM_153252.5(BRWD3):c.*4223C>T | Intellectual disability, X-linked 93 [RCV000384804]|not provided [RCV004713905] | benign | X | 80672386 | 80672386 | Human | 1 | name |
| 11626304 | CV352959 | single nucleotide variant | NM_153252.5(BRWD3):c.*2710G>A | Intellectual disability, X-linked 93 [RCV000260924] | uncertain significance | X | 80673899 | 80673899 | Human | 1 | name |
| 11626476 | CV352960 | single nucleotide variant | NM_153252.5(BRWD3):c.*2329A>T | Intellectual disability, X-linked 93 [RCV000263968] | uncertain significance | X | 80674280 | 80674280 | Human | 1 | name |
| 11626937 | CV352961 | single nucleotide variant | NM_153252.5(BRWD3):c.*1992G>A | Intellectual disability, X-linked 93 [RCV000272289]|not provided [RCV004713909] | benign|likely benign | X | 80674617 | 80674617 | Human | 1 | name |
| 11626796 | CV352963 | single nucleotide variant | NM_153252.5(BRWD3):c.814-8T>A | Intellectual disability, X-linked 93 [RCV000269755] | uncertain significance | X | 80736096 | 80736096 | Human | 1 | name |
| 597916360 | CV3737401 | duplication | NM_153252.5(BRWD3):c.91-17dup | not provided [RCV005074190] | likely benign | X | 80809058 | 80809059 | Human | | name |
| 597917065 | CV3737471 | single nucleotide variant | NM_153252.5(BRWD3):c.986-7C>A | not provided [RCV005074260] | benign | X | 80734225 | 80734225 | Human | | name |
| 597841554 | CV3752854 | single nucleotide variant | NM_153252.5(BRWD3):c.915-8A>C | not provided [RCV005086583] | likely benign | X | 80735205 | 80735205 | Human | | name |
| 597943499 | CV3812351 | single nucleotide variant | NM_153252.5(BRWD3):c.32-12C>T | not provided [RCV005159561] | likely benign | X | 80809316 | 80809316 | Human | | name |
| 597926571 | CV3855384 | single nucleotide variant | NM_153252.5(BRWD3):c.331+6A>T | not provided [RCV005205983] | uncertain significance | X | 80793616 | 80793616 | Human | | name |
| 597867191 | CV3861730 | single nucleotide variant | NM_153252.5(BRWD3):c.986-3T>C | not provided [RCV005196871] | uncertain significance | X | 80734221 | 80734221 | Human | | name |
| 13510026 | CV482266 | single nucleotide variant | NM_153252.5(BRWD3):c.986-9A>G | not provided [RCV000579312] | uncertain significance | X | 80734227 | 80734227 | Human | | name |
| 13828331 | CV581095 | deletion | NM_153252.5(BRWD3):c.814-4del | Inborn genetic diseases [RCV002312345]|not provided [RCV001672930] | benign | X | 80736092 | 80736092 | Human | 1 | name |
| 13829028 | CV581199 | single nucleotide variant | NM_153252.5(BRWD3):c.814-4T>A | BRWD3-related disorder [RCV004535782]|Inborn genetic diseases [RCV002314446] | likely benign|uncertain significance | X | 80736092 | 80736092 | Human | 2 | name , trait , alternate_id |
| 15146276 | CV745398 | single nucleotide variant | NM_153252.5(BRWD3):c.986-4C>T | not provided [RCV000900298] | likely benign | X | 80734222 | 80734222 | Human | | name |
| 25317071 | CV805062 | single nucleotide variant | NM_153252.5(BRWD3):c.592-3T>C | Intellectual disability, X-linked 93 [RCV001007815] | uncertain significance | X | 80744256 | 80744256 | Human | 1 | name |
| 28883388 | CV903216 | single nucleotide variant | NM_153252.5(BRWD3):c.*6692A>G | Intellectual disability, X-linked 93 [RCV001168194] | uncertain significance | X | 80669917 | 80669917 | Human | 1 | name |
| 28883392 | CV903217 | single nucleotide variant | NM_153252.5(BRWD3):c.*6451T>C | Intellectual disability, X-linked 93 [RCV001168195] | uncertain significance | X | 80670158 | 80670158 | Human | 1 | name |
| 28883396 | CV903218 | single nucleotide variant | NM_153252.5(BRWD3):c.*6331C>G | Intellectual disability, X-linked 93 [RCV001168196] | benign | X | 80670278 | 80670278 | Human | 1 | name |
| 28886037 | CV903219 | single nucleotide variant | NM_153252.5(BRWD3):c.*5773A>C | Intellectual disability, X-linked 93 [RCV001168948]|not provided [RCV003438710] | likely benign|uncertain significance | X | 80670836 | 80670836 | Human | 1 | name |
| 28886040 | CV903220 | single nucleotide variant | NM_153252.5(BRWD3):c.*5741G>T | Intellectual disability, X-linked 93 [RCV001168949] | benign | X | 80670868 | 80670868 | Human | 1 | name |
| 28876117 | CV903221 | single nucleotide variant | NM_153252.5(BRWD3):c.*5142A>G | Intellectual disability, X-linked 93 [RCV001166054]|not provided [RCV003438698] | likely benign|uncertain significance | X | 80671467 | 80671467 | Human | 1 | name |
| 28876121 | CV903222 | single nucleotide variant | NM_153252.5(BRWD3):c.*4661A>G | Intellectual disability, X-linked 93 [RCV001166055] | uncertain significance | X | 80671948 | 80671948 | Human | 1 | name |
| 28881426 | CV903223 | single nucleotide variant | NM_153252.5(BRWD3):c.*4139T>C | Intellectual disability, X-linked 93 [RCV001167623] | uncertain significance | X | 80672470 | 80672470 | Human | 1 | name |
| 28881432 | CV903224 | single nucleotide variant | NM_153252.5(BRWD3):c.*3738A>G | Intellectual disability, X-linked 93 [RCV001167624] | uncertain significance | X | 80672871 | 80672871 | Human | 1 | name |
| 28881434 | CV903225 | single nucleotide variant | NM_153252.5(BRWD3):c.*3594T>C | Intellectual disability, X-linked 93 [RCV001167625] | uncertain significance | X | 80673015 | 80673015 | Human | 1 | name |
| 28883635 | CV903226 | single nucleotide variant | NM_153252.5(BRWD3):c.*3447G>A | Intellectual disability, X-linked 93 [RCV001168267] | benign | X | 80673162 | 80673162 | Human | 1 | name |
| 28883638 | CV903227 | single nucleotide variant | NM_153252.5(BRWD3):c.*3377T>G | Intellectual disability, X-linked 93 [RCV001168268] | uncertain significance | X | 80673232 | 80673232 | Human | 1 | name |
| 28883641 | CV903228 | single nucleotide variant | NM_153252.5(BRWD3):c.*3293C>A | Intellectual disability, X-linked 93 [RCV001168269] | uncertain significance | X | 80673316 | 80673316 | Human | 1 | name |
| 28883645 | CV903229 | single nucleotide variant | NM_153252.5(BRWD3):c.*3252T>C | Intellectual disability, X-linked 93 [RCV001168270] | uncertain significance | X | 80673357 | 80673357 | Human | 1 | name |
| 28883650 | CV903230 | single nucleotide variant | NM_153252.5(BRWD3):c.*2875A>G | Intellectual disability, X-linked 93 [RCV001168271] | uncertain significance | X | 80673734 | 80673734 | Human | 1 | name |
| 28886246 | CV903231 | single nucleotide variant | NM_153252.5(BRWD3):c.*2723A>G | Intellectual disability, X-linked 93 [RCV001169008] | benign | X | 80673886 | 80673886 | Human | 1 | name |
| 28886251 | CV903232 | single nucleotide variant | NM_153252.5(BRWD3):c.*2413T>A | Intellectual disability, X-linked 93 [RCV001169009] | uncertain significance | X | 80674196 | 80674196 | Human | 1 | name |
| 28876300 | CV903233 | single nucleotide variant | NM_153252.5(BRWD3):c.*1820G>C | Intellectual disability, X-linked 93 [RCV001166104] | uncertain significance | X | 80674789 | 80674789 | Human | 1 | name |
| 28876305 | CV903234 | single nucleotide variant | NM_153252.5(BRWD3):c.*1394G>C | Intellectual disability, X-linked 93 [RCV001166105] | uncertain significance | X | 80675215 | 80675215 | Human | 1 | name |
| 8643429 | CV102412 | single nucleotide variant | NM_153252.5(BRWD3):c.813+10G>C | BRWD3-related disorder [RCV004529871]|Intellectual disability, X-linked 93 [RCV000327216]|not provided [RCV001588908]|not specified [RCV000082671] | benign|likely benign | X | 80744022 | 80744022 | Human | 1 | name , trait , alternate_id |
| 150419383 | CV1195824 | single nucleotide variant | NM_153252.5(BRWD3):c.3729-1G>C | not provided [RCV001569661] | pathogenic | X | 80689847 | 80689847 | Human | | name |
| 150536763 | CV1314263 | single nucleotide variant | NM_153252.5(BRWD3):c.1522-1G>C | Intellectual disability, X-linked 93 [RCV001780688] | likely pathogenic | X | 80723877 | 80723877 | Human | 1 | name |
| 151885602 | CV1451780 | single nucleotide variant | NM_153252.5(BRWD3):c.2835+5T>C | not provided [RCV002000517] | uncertain significance | X | 80703475 | 80703475 | Human | | name |
| 152039498 | CV1592758 | single nucleotide variant | NM_153252.5(BRWD3):c.4397+6A>G | not provided [RCV002188043] | benign | X | 80682459 | 80682459 | Human | | name |
| 155697206 | CV1794010 | single nucleotide variant | NM_153252.5(BRWD3):c.4006-8C>T | Inborn genetic diseases [RCV002375689] | uncertain significance | X | 80685544 | 80685544 | Human | 1 | name |
| 155671412 | CV1847571 | single nucleotide variant | NM_153252.5(BRWD3):c.2232-3T>C | Inborn genetic diseases [RCV002420143]|not provided [RCV003660960] | uncertain significance | X | 80716253 | 80716253 | Human | 1 | name |
| 155799446 | CV1862496 | single nucleotide variant | NM_153252.5(BRWD3):c.1387-5T>C | Intellectual disability, X-linked 93 [RCV002471902] | uncertain significance | X | 80725072 | 80725072 | Human | 1 | name |
| 156359523 | CV1908337 | single nucleotide variant | NM_153252.5(BRWD3):c.1386+9T>C | not provided [RCV002602398] | likely benign | X | 80728743 | 80728743 | Human | | name |
| 156116980 | CV1952418 | single nucleotide variant | NM_153252.5(BRWD3):c.431-13G>A | not provided [RCV002571712] | likely benign | X | 80745742 | 80745742 | Human | | name |
| 10049272 | CV196349 | duplication | NM_153252.5(BRWD3):c.814-16dup | Intellectual disability, X-linked 93 [RCV002485185]|not provided [RCV001610500]|not specified [RCV000180706] | benign|likely benign | X | 80736091 | 80736092 | Human | 1 | name |
| 156156264 | CV1987799 | single nucleotide variant | NM_153252.5(BRWD3):c.331+19A>G | not provided [RCV002642242] | likely benign | X | 80793603 | 80793603 | Human | | name |
| 156289849 | CV1998130 | single nucleotide variant | NM_153252.5(BRWD3):c.4398-3T>C | not provided [RCV002647149] | conflicting interpretations of pathogenicity|uncertain significance | X | 80682097 | 80682097 | Human | | name |
| 156069525 | CV2032517 | single nucleotide variant | NM_153252.5(BRWD3):c.4655-8T>A | not provided [RCV002760277] | likely benign | X | 80677371 | 80677371 | Human | | name |
| 156020585 | CV2040580 | single nucleotide variant | NM_153252.5(BRWD3):c.915-16T>A | not provided [RCV002795565] | benign | X | 80735213 | 80735213 | Human | | name |
| 156287961 | CV2047065 | single nucleotide variant | NM_153252.5(BRWD3):c.3151+8T>C | not provided [RCV002770644] | likely benign | X | 80695900 | 80695900 | Human | | name |
| 156377394 | CV2050577 | single nucleotide variant | NM_153252.5(BRWD3):c.985+20G>C | not provided [RCV002814809] | likely benign | X | 80735107 | 80735107 | Human | | name |
| 156339372 | CV2055268 | single nucleotide variant | NM_153252.5(BRWD3):c.3152-6T>C | not provided [RCV002811112] | uncertain significance | X | 80693057 | 80693057 | Human | | name |
| 156149288 | CV2128565 | single nucleotide variant | NM_153252.5(BRWD3):c.1877-5T>C | not provided [RCV002928844] | likely benign | X | 80719661 | 80719661 | Human | | name |
| 156169267 | CV2184915 | deletion | NM_153252.5(BRWD3):c.180+14del | not provided [RCV003057168] | benign | X | 80808525 | 80808525 | Human | | name |
| 11525830 | CV247209 | single nucleotide variant | NM_153252.5(BRWD3):c.2325+5G>A | Inborn genetic diseases [RCV002311364]|Intellectual disability, X-linked 93 [RCV000990889]|not provided [RCV000890603]|not specified [RCV000238931] | benign|likely benign | X | 80716152 | 80716152 | Human | 2 | name |
| 8561923 | CV25841 | single nucleotide variant | NM_153252.5(BRWD3):c.3325+1G>T | Intellectual disability, X-linked 93 [RCV000011549] | pathogenic | X | 80692088 | 80692088 | Human | 1 | name |
| 401857082 | CV2752089 | single nucleotide variant | NM_153252.5(BRWD3):c.4006-1G>A | Intellectual disability, X-linked 93 [RCV003335966] | likely pathogenic | X | 80685537 | 80685537 | Human | 1 | name |
| 401903643 | CV2800058 | single nucleotide variant | NM_153252.5(BRWD3):c.2721+5G>A | BRWD3-related disorder [RCV004536770] | uncertain significance | X | 80704673 | 80704673 | Human | | name , trait , alternate_id |
| 401916458 | CV2831093 | single nucleotide variant | NM_153252.5(BRWD3):c.2943+4A>G | not provided [RCV003443362] | uncertain significance | X | 80699953 | 80699953 | Human | | name |
| 405146662 | CV2881514 | single nucleotide variant | NM_153252.5(BRWD3):c.1086+7G>C | not provided [RCV003561415] | likely benign | X | 80734111 | 80734111 | Human | | name |
| 405236669 | CV2884706 | deletion | NM_153252.5(BRWD3):c.1127+6del | not provided [RCV003556538] | benign | X | 80733450 | 80733450 | Human | | name |
| 405219356 | CV2903895 | single nucleotide variant | NM_153252.5(BRWD3):c.2231+9A>G | not provided [RCV003568172] | likely benign | X | 80717564 | 80717564 | Human | | name |
| 405215085 | CV2925279 | single nucleotide variant | NM_153252.5(BRWD3):c.121-19C>A | not provided [RCV003567655] | likely benign | X | 80808617 | 80808617 | Human | | name |
| 405193303 | CV2975065 | single nucleotide variant | NM_153252.5(BRWD3):c.3808-5T>G | not provided [RCV003677407] | uncertain significance | X | 80688130 | 80688130 | Human | | name |
| 405195289 | CV2975802 | single nucleotide variant | NM_153252.5(BRWD3):c.1128-5T>C | not provided [RCV003677593] | likely benign | X | 80730025 | 80730025 | Human | | name |
| 405053741 | CV3151351 | single nucleotide variant | NM_153252.5(BRWD3):c.813+10G>A | not provided [RCV003849760] | likely benign | X | 80744022 | 80744022 | Human | | name |
| 405157086 | CV3152561 | single nucleotide variant | NM_153252.5(BRWD3):c.180+15C>A | not provided [RCV003840488] | benign | X | 80808524 | 80808524 | Human | | name |
| 405266966 | CV3186740 | single nucleotide variant | NM_153252.5(BRWD3):c.2232-4T>C | not provided [RCV003886821] | uncertain significance | X | 80716254 | 80716254 | Human | | name |
| 11620464 | CV339605 | microsatellite | NM_153252.5(BRWD3):c.*265AC[4] | Non-syndromic X-linked intellectual disability [RCV000337357]|not provided [RCV001613251] | benign | X | 80676333 | 80676336 | Human | | name |
| 11631995 | CV349099 | microsatellite | NM_153252.5(BRWD3):c.*244CA[2] | Non-syndromic X-linked intellectual disability [RCV000395426] | uncertain significance | X | 80676358 | 80676361 | Human | | name |
| 11631280 | CV349108 | microsatellite | NM_153252.5(BRWD3):c.-239TC[6] | Non-syndromic X-linked intellectual disability [RCV000373735]|not provided [RCV001643124] | benign | X | 80809700 | 80809701 | Human | | name |
| 11627407 | CV352964 | microsatellite | NM_153252.5(BRWD3):c.-265TC[7] | Non-syndromic X-linked intellectual disability [RCV000281658] | uncertain significance | X | 80809721 | 80809722 | Human | | name |
| 11665939 | CV353868 | microsatellite | NM_153252.5(BRWD3):c.-283CT[8] | Non-syndromic X-linked intellectual disability [RCV000303458]|not provided [RCV001653779] | benign | X | 80809737 | 80809738 | Human | | name |
| 597839349 | CV3758371 | single nucleotide variant | NM_153252.5(BRWD3):c.1522-8A>G | not provided [RCV005086206] | benign | X | 80723884 | 80723884 | Human | | name |
| 597844075 | CV3827404 | single nucleotide variant | NM_153252.5(BRWD3):c.2325+3A>G | not provided [RCV005172675] | uncertain significance | X | 80716154 | 80716154 | Human | | name |
| 597857904 | CV3850134 | single nucleotide variant | NM_153252.5(BRWD3):c.3729-2A>G | not provided [RCV005195466] | likely pathogenic | X | 80689848 | 80689848 | Human | | name |
| 598126716 | CV3882172 | single nucleotide variant | NM_153252.5(BRWD3):c.3152-5T>A | not provided [RCV005233723] | uncertain significance | X | 80693056 | 80693056 | Human | | name |
| 598124862 | CV3883711 | single nucleotide variant | NM_153252.5(BRWD3):c.1876+5G>A | not provided [RCV005236065] | uncertain significance | X | 80722557 | 80722557 | Human | | name |
| 598222134 | CV3893839 | single nucleotide variant | NM_153252.5(BRWD3):c.814-17A>G | not provided [RCV005257082] | likely benign | X | 80736105 | 80736105 | Human | | name |
| 616939615 | CV4014112 | single nucleotide variant | NM_153252.5(BRWD3):c.4233+8T>A | not provided [RCV005413604] | likely benign | X | 80684002 | 80684002 | Human | | name |
| 617150263 | CV4021690 | single nucleotide variant | NM_153252.5(BRWD3):c.3264-1G>T | not provided [RCV005425659] | pathogenic | X | 80692151 | 80692151 | Human | | name |
| 13214158 | CV430946 | single nucleotide variant | NM_153252.5(BRWD3):c.4398-7C>T | not specified [RCV000500918] | uncertain significance | X | 80682101 | 80682101 | Human | | name |
| 13483761 | CV446793 | single nucleotide variant | NM_153252.5(BRWD3):c.2553-3C>G | not provided [RCV000522144] | uncertain significance | X | 80704849 | 80704849 | Human | | name |
| 15182449 | CV731489 | duplication | NM_153252.5(BRWD3):c.431-10dup | not provided [RCV000885994] | benign | X | 80745732 | 80745733 | Human | | name |
| 150405810 | CV1178805 | single nucleotide variant | NM_153252.5(BRWD3):c.2836-55A>T | not provided [RCV001545027] | likely benign | X | 80700119 | 80700119 | Human | | name |
| 150411507 | CV1182507 | single nucleotide variant | NM_153252.5(BRWD3):c.1087-23G>C | Intellectual disability, X-linked 93 [RCV001553917]|not provided [RCV001619978] | benign | X | 80733519 | 80733519 | Human | 1 | name |
| 150420570 | CV1195825 | single nucleotide variant | NM_153252.5(BRWD3):c.1386+76A>T | not provided [RCV001570178] | likely benign | X | 80728676 | 80728676 | Human | | name |
| 150418069 | CV1199556 | single nucleotide variant | NM_153252.5(BRWD3):c.4496-81A>T | not provided [RCV001576583] | likely benign | X | 80681580 | 80681580 | Human | | name |
| 150440262 | CV1221423 | single nucleotide variant | NM_153252.5(BRWD3):c.814-167G>A | not provided [RCV001610118] | benign | X | 80736255 | 80736255 | Human | | name |
| 150484322 | CV1222466 | single nucleotide variant | NM_153252.5(BRWD3):c.813+185T>A | not provided [RCV001617469] | benign | X | 80743847 | 80743847 | Human | | name |
| 8587665 | CV122296 | single nucleotide variant | NM_153252.4(BRWD3):c.985+341C>T | Lung cancer [RCV000102816] | uncertain significance | X | 80734786 | 80734786 | Human | | name |
| 150450503 | CV1232688 | deletion | NM_153252.5(BRWD3):c.4398-30del | not provided [RCV001647763] | benign | X | 80682124 | 80682124 | Human | | name |
| 150432114 | CV1236654 | single nucleotide variant | NM_153252.5(BRWD3):c.914+315C>T | not provided [RCV001642058] | benign | X | 80735673 | 80735673 | Human | | name |
| 150440824 | CV1246636 | duplication | NM_153252.5(BRWD3):c.914+167dup | not provided [RCV001666289] | benign | X | 80735803 | 80735804 | Human | | name |
| 150489822 | CV1250924 | single nucleotide variant | NM_153252.5(BRWD3):c.1651-46T>A | not provided [RCV001674591] | benign | X | 80722833 | 80722833 | Human | | name |
| 150483305 | CV1261764 | single nucleotide variant | NM_153252.5(BRWD3):c.4398-24G>A | not provided [RCV001686368] | benign | X | 80682118 | 80682118 | Human | | name |
| 150463400 | CV1263800 | single nucleotide variant | NM_153252.5(BRWD3):c.1650+57T>C | not provided [RCV001682501] | benign | X | 80723691 | 80723691 | Human | | name |
| 150460664 | CV1264206 | single nucleotide variant | NM_153252.5(BRWD3):c.331+123G>A | not provided [RCV001682123] | benign | X | 80793499 | 80793499 | Human | | name |
| 150441928 | CV1264352 | single nucleotide variant | NM_153252.5(BRWD3):c.1386+32G>A | not provided [RCV001679335] | benign | X | 80728720 | 80728720 | Human | | name |
| 150494117 | CV1267287 | single nucleotide variant | NM_153252.5(BRWD3):c.914+235T>G | not provided [RCV001688315] | benign | X | 80735753 | 80735753 | Human | | name |
| 150504158 | CV1285901 | single nucleotide variant | NM_153252.5(BRWD3):c.4496-86C>T | not provided [RCV001719324] | benign | X | 80681585 | 80681585 | Human | | name |
| 152061703 | CV1611228 | single nucleotide variant | NM_153252.5(BRWD3):c.1127+19T>C | not provided [RCV002146852] | benign | X | 80733437 | 80733437 | Human | | name |
| 152121863 | CV1631702 | single nucleotide variant | NM_153252.5(BRWD3):c.1087-14G>C | not provided [RCV002117951] | benign | X | 80733510 | 80733510 | Human | | name |
| 156202569 | CV1952575 | single nucleotide variant | NM_153252.5(BRWD3):c.3481+11T>C | not provided [RCV002574832] | benign | X | 80691812 | 80691812 | Human | | name |
| 156408518 | CV1954420 | single nucleotide variant | NM_153252.5(BRWD3):c.3729-19G>A | not provided [RCV002586538] | likely benign | X | 80689865 | 80689865 | Human | | name |
| 156111999 | CV1961725 | single nucleotide variant | NM_153252.5(BRWD3):c.1522-12T>C | not provided [RCV002592809] | benign | X | 80723888 | 80723888 | Human | | name |
| 156411893 | CV1972844 | single nucleotide variant | NM_153252.5(BRWD3):c.2325+16C>T | not provided [RCV002587640] | benign | X | 80716141 | 80716141 | Human | | name |
| 156189436 | CV1997980 | single nucleotide variant | NM_153252.5(BRWD3):c.2325+18A>G | not provided [RCV002643267] | likely benign | X | 80716139 | 80716139 | Human | | name |
| 156302164 | CV1998453 | single nucleotide variant | NM_153252.5(BRWD3):c.2944-14A>T | not provided [RCV002671210] | likely benign | X | 80696877 | 80696877 | Human | | name |
| 156369256 | CV2021185 | single nucleotide variant | NM_153252.5(BRWD3):c.4398-16A>G | not provided [RCV002721402] | benign | X | 80682110 | 80682110 | Human | | name |
| 156312839 | CV2078985 | single nucleotide variant | NM_153252.5(BRWD3):c.4234-19A>G | not provided [RCV002898817] | likely benign | X | 80682647 | 80682647 | Human | | name |
| 156212930 | CV2087309 | single nucleotide variant | NM_153252.5(BRWD3):c.3482-12A>C | not provided [RCV002852898] | likely benign | X | 80691185 | 80691185 | Human | | name |
| 156209062 | CV2160362 | single nucleotide variant | NM_153252.5(BRWD3):c.1128-18T>G | not provided [RCV003042261] | likely benign | X | 80730038 | 80730038 | Human | | name |
| 405221506 | CV2908182 | single nucleotide variant | NM_153252.5(BRWD3):c.4495+16G>A | not provided [RCV003568509] | likely benign | X | 80681981 | 80681981 | Human | | name |
| 405032321 | CV2926216 | single nucleotide variant | NM_153252.5(BRWD3):c.1233-19T>A | not provided [RCV003578332] | likely benign | X | 80728924 | 80728924 | Human | | name |
| 405110795 | CV2942096 | single nucleotide variant | NM_153252.5(BRWD3):c.4655-17C>T | not provided [RCV003666281] | likely benign | X | 80677380 | 80677380 | Human | | name |
| 405118803 | CV2957429 | single nucleotide variant | NM_153252.5(BRWD3):c.4005+12G>C | not provided [RCV003667216] | likely benign | X | 80686851 | 80686851 | Human | | name |
| 405207201 | CV2994509 | single nucleotide variant | NM_153252.5(BRWD3):c.3068+12T>G | not provided [RCV003678889] | uncertain significance | X | 80696727 | 80696727 | Human | | name |
| 405249756 | CV3000868 | single nucleotide variant | NM_153252.5(BRWD3):c.2476-19T>C | not provided [RCV003721429] | likely benign | X | 80707522 | 80707522 | Human | | name |
| 405172127 | CV3026586 | single nucleotide variant | NM_153252.5(BRWD3):c.3326-13A>T | not provided [RCV003704768] | likely benign | X | 80691991 | 80691991 | Human | | name |
| 405093898 | CV3118928 | single nucleotide variant | NM_153252.5(BRWD3):c.1086+20G>A | not provided [RCV003811379] | benign | X | 80734098 | 80734098 | Human | | name |
| 405085018 | CV3121993 | single nucleotide variant | NM_153252.5(BRWD3):c.3068+12T>C | not provided [RCV003810748] | benign | X | 80696727 | 80696727 | Human | | name |
| 405146047 | CV3126494 | single nucleotide variant | NM_153252.5(BRWD3):c.3808-18T>C | not provided [RCV003817221] | benign | X | 80688143 | 80688143 | Human | | name |
| 405146163 | CV3126502 | single nucleotide variant | NM_153252.5(BRWD3):c.1386+11T>C | not provided [RCV003817229] | benign | X | 80728741 | 80728741 | Human | | name |
| 404977047 | CV3127074 | single nucleotide variant | NM_153252.5(BRWD3):c.3264-13T>C | not provided [RCV003825297] | benign | X | 80692163 | 80692163 | Human | | name |
| 405122252 | CV3131672 | single nucleotide variant | NM_153252.5(BRWD3):c.2553-13G>T | not provided [RCV003837536] | uncertain significance | X | 80704859 | 80704859 | Human | | name |
| 405106147 | CV3136073 | single nucleotide variant | NM_153252.5(BRWD3):c.3864+20G>C | not provided [RCV003835419] | benign | X | 80688049 | 80688049 | Human | | name |
| 405003117 | CV3184110 | single nucleotide variant | NM_153252.5(BRWD3):c.3152-17A>G | not provided [RCV003882693] | benign | X | 80693068 | 80693068 | Human | | name |
| 11625593 | CV339609 | deletion | NM_153252.5(BRWD3):c.3326-14del | Non-syndromic X-linked intellectual disability [RCV000401000]|not provided [RCV001556730] | benign|likely benign|uncertain significance | X | 80691992 | 80691992 | Human | 1 | name |
| 11622271 | CV339610 | duplication | NM_153252.5(BRWD3):c.3326-26dup | Non-syndromic X-linked intellectual disability [RCV000358530]|not provided [RCV002058834] | benign|uncertain significance | X | 80691991 | 80691992 | Human | 1 | name |
| 408391392 | CV3523173 | single nucleotide variant | NM_153252.5(BRWD3):c.4234-13T>G | not provided [RCV004770545] | uncertain significance | X | 80682641 | 80682641 | Human | | name |
| 597848180 | CV3736781 | duplication | NM_153252.5(BRWD3):c.3602+14dup | not provided [RCV005065940] | benign | X | 80691038 | 80691039 | Human | | name |
| 597962408 | CV3753697 | single nucleotide variant | NM_153252.5(BRWD3):c.1232+20G>A | not provided [RCV005082001] | benign | X | 80729896 | 80729896 | Human | | name |
| 597956084 | CV3787269 | single nucleotide variant | NM_153252.5(BRWD3):c.4005+15G>T | not provided [RCV005122154] | likely benign | X | 80686848 | 80686848 | Human | | name |
| 21069737 | CV789392 | single nucleotide variant | NM_153252.5(BRWD3):c.3602+20C>G | Developmental delay [RCV003153882]|Intellectual disability, X-linked 93 [RCV000984902] | uncertain significance | X | 80691033 | 80691033 | Human | 3 | name |
| 28886492 | CV903487 | single nucleotide variant | NM_153252.5(BRWD3):c.3602+15A>C | Intellectual disability, X-linked 93 [RCV001169077]|not provided [RCV002067831] | benign | X | 80691038 | 80691038 | Human | 1 | name |
| 28886495 | CV903488 | single nucleotide variant | NM_153252.5(BRWD3):c.3602+14T>A | Intellectual disability, X-linked 93 [RCV001169078]|not provided [RCV001615130] | benign | X | 80691039 | 80691039 | Human | 1 | name |
| 28886505 | CV903489 | single nucleotide variant | NM_153252.5(BRWD3):c.2943+13A>G | Intellectual disability, X-linked 93 [RCV001169080] | uncertain significance | X | 80699944 | 80699944 | Human | 1 | name |
| 28886510 | CV903490 | single nucleotide variant | NM_153252.5(BRWD3):c.2326-14C>A | Intellectual disability, X-linked 93 [RCV001169081] | uncertain significance | X | 80709591 | 80709591 | Human | 1 | name |
| 28886513 | CV903491 | single nucleotide variant | NM_153252.5(BRWD3):c.2044+13A>G | Intellectual disability, X-linked 93 [RCV001169082]|not provided [RCV002559624] | benign | X | 80719476 | 80719476 | Human | 1 | name |
| 150422095 | CV1182173 | single nucleotide variant | NM_153252.5(BRWD3):c.3263+186C>A | not provided [RCV001552339] | likely benign | X | 80692754 | 80692754 | Human | | name |
| 150425980 | CV1185868 | single nucleotide variant | NM_153252.5(BRWD3):c.3807+129G>A | not provided [RCV001558745] | likely benign | X | 80689639 | 80689639 | Human | | name |
| 150427128 | CV1189172 | single nucleotide variant | NM_153252.5(BRWD3):c.4081-248A>T | not provided [RCV001560523] | likely benign | X | 80684410 | 80684410 | Human | | name |
| 150409889 | CV1192577 | single nucleotide variant | NM_153252.5(BRWD3):c.1128-111A>G | not provided [RCV001565816] | likely benign | X | 80730131 | 80730131 | Human | | name |
| 150405278 | CV1195823 | single nucleotide variant | NM_153252.5(BRWD3):c.3808-169A>C | not provided [RCV001571557] | likely benign | X | 80688294 | 80688294 | Human | | name |
| 150420076 | CV1199557 | single nucleotide variant | NM_153252.5(BRWD3):c.2552+161A>G | not provided [RCV001577453] | likely benign | X | 80707266 | 80707266 | Human | | name |
| 150414065 | CV1199558 | single nucleotide variant | NM_153252.5(BRWD3):c.2326-125A>G | not provided [RCV001574816] | likely benign | X | 80709702 | 80709702 | Human | | name |
| 150447318 | CV1201872 | duplication | NM_153252.5(BRWD3):c.1087-113dup | not provided [RCV001584741] | likely benign | X | 80733595 | 80733596 | Human | | name |
| 150448579 | CV1202055 | single nucleotide variant | NM_153252.5(BRWD3):c.3865-296G>A | not provided [RCV001584925] | likely benign | X | 80687299 | 80687299 | Human | | name |
| 150475693 | CV1202281 | single nucleotide variant | NM_153252.5(BRWD3):c.1522-160G>A | not provided [RCV001589524] | likely benign | X | 80724036 | 80724036 | Human | | name |
| 150480836 | CV1222047 | single nucleotide variant | NM_153252.5(BRWD3):c.3481+136G>T | not provided [RCV001616844] | benign | X | 80691687 | 80691687 | Human | | name |
| 8587664 | CV122295 | single nucleotide variant | NM_153252.4(BRWD3):c.1876+303A>T | Lung cancer [RCV000102815] | uncertain significance | X | 80722259 | 80722259 | Human | | name |
| 150482846 | CV1223492 | single nucleotide variant | NM_153252.5(BRWD3):c.1232+303T>C | not provided [RCV001617205] | benign | X | 80729613 | 80729613 | Human | | name |
| 150493244 | CV1225627 | single nucleotide variant | NM_153252.5(BRWD3):c.1650+220A>G | not provided [RCV001619143] | benign | X | 80723528 | 80723528 | Human | | name |
| 150515061 | CV1228719 | single nucleotide variant | NM_153252.5(BRWD3):c.1876+155G>A | not provided [RCV001638707] | benign | X | 80722407 | 80722407 | Human | | name |
| 150435604 | CV1233903 | single nucleotide variant | NM_153252.5(BRWD3):c.2326-322C>A | not provided [RCV001644030] | benign | X | 80709899 | 80709899 | Human | | name |
| 150462739 | CV1234956 | single nucleotide variant | NM_153252.5(BRWD3):c.3865-293G>C | not provided [RCV001649538] | benign | X | 80687296 | 80687296 | Human | | name |
| 150504639 | CV1240794 | single nucleotide variant | NM_153252.5(BRWD3):c.2836-245C>T | not provided [RCV001657637] | benign | X | 80700309 | 80700309 | Human | | name |
| 150506865 | CV1242318 | single nucleotide variant | NM_153252.5(BRWD3):c.3264-184G>A | not provided [RCV001658673] | benign | X | 80692334 | 80692334 | Human | | name |
| 150431132 | CV1243594 | deletion | NM_153252.5(BRWD3):c.1087-100del | not provided [RCV001663214] | benign | X | 80733596 | 80733596 | Human | | name |
| 150459517 | CV1248679 | single nucleotide variant | NM_153252.5(BRWD3):c.3151+178T>A | not provided [RCV001669289] | benign | X | 80695730 | 80695730 | Human | | name |
| 150456662 | CV1249963 | single nucleotide variant | NM_153252.5(BRWD3):c.1386+307G>A | not provided [RCV001668860] | benign | X | 80728445 | 80728445 | Human | | name |
| 150502659 | CV1254588 | single nucleotide variant | NM_153252.5(BRWD3):c.3152-330G>C | not provided [RCV001677290] | benign | X | 80693381 | 80693381 | Human | | name |
| 150452079 | CV1254912 | single nucleotide variant | NM_153252.5(BRWD3):c.1128-122G>T | not provided [RCV001667971] | benign | X | 80730142 | 80730142 | Human | | name |
| 150505632 | CV1255522 | single nucleotide variant | NM_153252.5(BRWD3):c.3603-311T>A | not provided [RCV001677969] | benign | X | 80690403 | 80690403 | Human | | name |
| 150503980 | CV1257904 | single nucleotide variant | NM_153252.5(BRWD3):c.4233+271G>A | not provided [RCV001677592] | benign | X | 80683739 | 80683739 | Human | | name |
| 150472095 | CV1259238 | single nucleotide variant | NM_153252.5(BRWD3):c.4496-135A>G | not provided [RCV001684484] | benign | X | 80681634 | 80681634 | Human | | name |
| 150450105 | CV1260914 | single nucleotide variant | NM_153252.5(BRWD3):c.2722-152G>A | not provided [RCV001680583] | benign | X | 80703745 | 80703745 | Human | | name |
| 150490292 | CV1267584 | single nucleotide variant | NM_153252.5(BRWD3):c.4081-253T>C | not provided [RCV001687608] | benign | X | 80684415 | 80684415 | Human | | name |
| 150464043 | CV1273240 | single nucleotide variant | NM_153252.5(BRWD3):c.3263+275T>C | not provided [RCV001693997] | benign | X | 80692665 | 80692665 | Human | | name |
| 150453265 | CV1276824 | single nucleotide variant | NM_153252.5(BRWD3):c.2553-277C>T | not provided [RCV001708614] | benign | X | 80705123 | 80705123 | Human | | name |
| 150467323 | CV1277551 | single nucleotide variant | NM_153252.5(BRWD3):c.4398-114C>A | not provided [RCV001710846] | benign | X | 80682208 | 80682208 | Human | | name |
| 150444084 | CV1277944 | single nucleotide variant | NM_153252.5(BRWD3):c.1128-152T>G | not provided [RCV001707087] | benign | X | 80730172 | 80730172 | Human | | name |
| 405255433 | CV3172414 | microsatellite | NM_153252.5(BRWD3):c.2475+3TA[6] | not provided [RCV003872352] | benign | X | 80709415 | 80709416 | Human | | name |
| 11629698 | CV349107 | duplication | NM_153252.5(BRWD3):c.-229_-228dup | Non-syndromic X-linked intellectual disability [RCV000330803] | uncertain significance | X | 80809698 | 80809699 | Human | 1 | name |
| 21073760 | CV792512 | microsatellite | NM_153252.5(BRWD3):c.3865-119TA[9] | Intellectual disability, X-linked 93 [RCV000990888]|not provided [RCV001615099] | benign | X | 80687101 | 80687104 | Human | | name |
| 150340131 | CV1168501 | microsatellite | NM_153252.5(BRWD3):c.3068+176GT[19] | not provided [RCV001535019] | benign | X | 80696520 | 80696525 | Human | | name |
| 150423124 | CV1185867 | microsatellite | NM_153252.5(BRWD3):c.3865-119TA[12] | not provided [RCV001554905] | likely benign | X | 80687100 | 80687101 | Human | | name |
| 150507347 | CV1226569 | microsatellite | NM_153252.5(BRWD3):c.3865-119TA[10] | not provided [RCV001635937] | benign | X | 80687101 | 80687102 | Human | | name |
| 150456157 | CV1236848 | microsatellite | NM_153252.5(BRWD3):c.3068+176GT[24] | not provided [RCV001648584] | benign | X | 80696519 | 80696520 | Human | | name |
| 150464429 | CV1241287 | microsatellite | NM_153252.5(BRWD3):c.3068+176GT[21] | not provided [RCV001649798] | benign | X | 80696520 | 80696521 | Human | | name |
| 150465545 | CV1252899 | microsatellite | NM_153252.5(BRWD3):c.3068+176GT[18] | not provided [RCV001670223] | benign | X | 80696520 | 80696527 | Human | | name |
| 150451087 | CV1254188 | microsatellite | NM_153252.5(BRWD3):c.3068+176GT[20] | not provided [RCV001667827] | benign | X | 80696520 | 80696523 | Human | | name |
| 150456938 | CV1278565 | microsatellite | NM_153252.5(BRWD3):c.3068+176GT[23] | not provided [RCV001709180] | benign | X | 80696519 | 80696520 | Human | | name |
| 405287895 | CV3203195 | duplication | NM_153252.5(BRWD3):c.814-5_814-4dup | BRWD3-related disorder [RCV004532152] | likely benign | X | 80736091 | 80736092 | Human | | name , trait , alternate_id |
| 15192922 | CV774264 | single nucleotide variant | NM_153252.5(BRWD3):c.6G>A (p.Ala2=) | not provided [RCV000933219] | likely benign | X | 80809466 | 80809466 | Human | | name |
| 156408431 | CV1957841 | single nucleotide variant | NM_153252.5(BRWD3):c.18C>T (p.Thr6=) | not provided [RCV002586516] | likely benign | X | 80809454 | 80809454 | Human | | name |
| 150411510 | CV1182508 | duplication | NM_153252.5(BRWD3):c.592-47_592-45dup | Intellectual disability, X-linked 93 [RCV001553918]|not provided [RCV001615307] | benign | X | 80744297 | 80744298 | Human | 1 | name |
| 156413216 | CV1887757 | duplication | NM_153252.5(BRWD3):c.2475+2_2475+3dup | not provided [RCV003073204] | benign | X | 80709424 | 80709425 | Human | | name |
| 10048214 | CV192585 | single nucleotide variant | NM_153252.5(BRWD3):c.33G>A (p.Glu11=) | Inborn genetic diseases [RCV002314615]|Intellectual disability, X-linked 93 [RCV000277974]|not provided [RCV000973061]|not specified [RCV000175993] | benign|likely benign|conflicting interpretations of pathogenicity | X | 80809303 | 80809303 | Human | 2 | name |
| 401918284 | CV2831271 | microsatellite | NM_153252.5(BRWD3):c.1233-7_1233-3del | Intellectual disability, X-linked 93 [RCV003444036] | uncertain significance | X | 80728908 | 80728912 | Human | | name |
| 596921730 | CV3535356 | single nucleotide variant | NM_153252.5(BRWD3):c.2T>C (p.Met1Thr) | Intellectual disability, X-linked 93 [RCV004784911] | likely pathogenic | X | 80809470 | 80809470 | Human | 1 | name |
| 13526295 | CV508435 | duplication | NM_153252.5(BRWD3):c.2721+4_2721+7dup | not specified [RCV000603945] | likely benign | X | 80704670 | 80704671 | Human | | name |
| 28878142 | CV903248 | single nucleotide variant | NM_153252.5(BRWD3):c.96A>G (p.Leu32=) | Intellectual disability, X-linked 93 [RCV001166657]|not provided [RCV002558632] | likely benign|uncertain significance | X | 80809037 | 80809037 | Human | 1 | name |
| 155684670 | CV1827080 | single nucleotide variant | NM_153252.5(BRWD3):c.14C>G (p.Pro5Arg) | Inborn genetic diseases [RCV002389891]|not provided [RCV003095244] | benign|uncertain significance | X | 80809458 | 80809458 | Human | 1 | name |
| 155695619 | CV1844669 | single nucleotide variant | NM_153252.5(BRWD3):c.225T>C (p.Ile75=) | Inborn genetic diseases [RCV002443718] | likely benign | X | 80793728 | 80793728 | Human | 1 | name |
| 155799443 | CV1862495 | single nucleotide variant | NM_153252.5(BRWD3):c.11C>T (p.Ala4Val) | Intellectual disability, X-linked 93 [RCV002471901]|not provided [RCV005098457] | uncertain significance | X | 80809461 | 80809461 | Human | 1 | name |
| 156364544 | CV2176805 | single nucleotide variant | NM_153252.5(BRWD3):c.186A>C (p.Ala62=) | not provided [RCV003049249] | benign | X | 80793767 | 80793767 | Human | | name |
| 401869353 | CV2750167 | duplication | NM_153252.5(BRWD3):c.94dup (p.Leu32fs) | Intellectual disability, X-linked 93 [RCV003333612] | likely pathogenic | X | 80809038 | 80809039 | Human | 1 | name |
| 407496249 | CV3496533 | single nucleotide variant | NM_153252.5(BRWD3):c.11C>A (p.Ala4Glu) | not provided [RCV004696734] | uncertain significance | X | 80809461 | 80809461 | Human | | name |
| 150483719 | CV1222348 | microsatellite | NM_153252.5(BRWD3):c.914+147_914+149del | not provided [RCV001617351] | benign | X | 80735839 | 80735841 | Human | | name |
| 151353649 | CV1327201 | single nucleotide variant | NM_153252.5(BRWD3):c.369G>A (p.Ala123=) | not provided [RCV002542515]|not specified [RCV001817145] | uncertain significance | X | 80791915 | 80791915 | Human | | name |
| 152116544 | CV1611018 | microsatellite | NM_153252.5(BRWD3):c.3264-15_3264-13del | not provided [RCV002135165] | benign | X | 80692163 | 80692165 | Human | | name |
| 153001934 | CV1682736 | single nucleotide variant | NM_153252.5(BRWD3):c.67G>C (p.Gly23Arg) | not provided [RCV002251815] | uncertain significance | X | 80809269 | 80809269 | Human | | name |
| 156297044 | CV1894421 | single nucleotide variant | NM_153252.5(BRWD3):c.657T>G (p.Arg219=) | not provided [RCV003087738] | likely benign | X | 80744188 | 80744188 | Human | | name |
| 156116998 | CV1994005 | single nucleotide variant | NM_153252.5(BRWD3):c.759T>C (p.Thr253=) | not provided [RCV002662705] | likely benign | X | 80744086 | 80744086 | Human | | name |
| 156022469 | CV2019439 | single nucleotide variant | NM_153252.5(BRWD3):c.429G>C (p.Val143=) | not provided [RCV002691067] | benign|likely benign | X | 80791855 | 80791855 | Human | | name |
| 10403747 | CV209307 | single nucleotide variant | NM_153252.5(BRWD3):c.597A>C (p.Ser199=) | Inborn genetic diseases [RCV002311289]|Intellectual disability, X-linked 93 [RCV000370145]|not provided [RCV000960089]|not specified [RCV000193303] | benign|likely benign|uncertain significance | X | 80744248 | 80744248 | Human | 2 | name |
| 156255837 | CV2098237 | single nucleotide variant | NM_153252.5(BRWD3):c.915A>G (p.Arg305=) | Inborn genetic diseases [RCV004065994]|not provided [RCV002895411] | benign|likely benign | X | 80735197 | 80735197 | Human | 1 | name |
| 156145697 | CV2122790 | single nucleotide variant | NM_153252.5(BRWD3):c.348A>G (p.Leu116=) | not provided [RCV002954389] | likely benign | X | 80791936 | 80791936 | Human | | name |
| 401929096 | CV2826578 | single nucleotide variant | NM_153252.5(BRWD3):c.318A>T (p.Leu106=) | not provided [RCV003439717] | likely benign | X | 80793635 | 80793635 | Human | | name |
| 402496019 | CV2942744 | single nucleotide variant | NM_153252.5(BRWD3):c.411T>C (p.Tyr137=) | not provided [RCV003661113] | likely benign | X | 80791873 | 80791873 | Human | | name |
| 405217972 | CV2988165 | single nucleotide variant | NM_153252.5(BRWD3):c.873A>C (p.Thr291=) | not provided [RCV003709490] | likely benign | X | 80736029 | 80736029 | Human | | name |
| 405044467 | CV3141554 | single nucleotide variant | NM_153252.5(BRWD3):c.501C>T (p.Tyr167=) | not provided [RCV003831655] | likely benign | X | 80745659 | 80745659 | Human | | name |
| 405045105 | CV3150355 | single nucleotide variant | NM_153252.5(BRWD3):c.417A>G (p.Lys139=) | not provided [RCV003849149] | likely benign | X | 80791867 | 80791867 | Human | | name |
| 596947491 | CV3549047 | single nucleotide variant | NM_153252.5(BRWD3):c.346C>T (p.Leu116=) | not provided [RCV004811371] | uncertain significance | X | 80791938 | 80791938 | Human | | name |
| 597897340 | CV3773898 | single nucleotide variant | NM_153252.5(BRWD3):c.50C>A (p.Ala17Asp) | not provided [RCV005111619] | uncertain significance | X | 80809286 | 80809286 | Human | | name |
| 597896099 | CV3810494 | deletion | NM_153252.5(BRWD3):c.2721+20_2721+22del | not provided [RCV005152019] | likely benign | X | 80704656 | 80704658 | Human | | name |
| 597914794 | CV3833975 | single nucleotide variant | NM_153252.5(BRWD3):c.318A>G (p.Leu106=) | not provided [RCV005183334] | likely benign | X | 80793635 | 80793635 | Human | | name |
| 597946987 | CV3841786 | single nucleotide variant | NM_153252.5(BRWD3):c.453A>G (p.Gln151=) | not provided [RCV005189220] | likely benign | X | 80745707 | 80745707 | Human | | name |
| 597861089 | CV3880781 | deletion | NM_153252.5(BRWD3):c.263del (p.Pro88fs) | Intellectual disability, X-linked 93 [RCV005229615] | pathogenic | X | 80793690 | 80793690 | Human | 1 | name |
| 598125127 | CV3885601 | single nucleotide variant | NM_153252.5(BRWD3):c.85G>T (p.Ala29Ser) | not specified [RCV005240179] | uncertain significance | X | 80809251 | 80809251 | Human | | name |
| 617150266 | CV4021691 | single nucleotide variant | NM_153252.5(BRWD3):c.894T>C (p.His298=) | not provided [RCV005425660] | likely benign | X | 80736008 | 80736008 | Human | | name |
| 13214927 | CV430948 | single nucleotide variant | NM_153252.5(BRWD3):c.573C>T (p.Ser191=) | BRWD3-related disorder [RCV004535589]|not provided [RCV002056839]|not specified [RCV000501761] | benign|likely benign | X | 80745587 | 80745587 | Human | 1 | name , trait , alternate_id |
| 13830039 | CV581161 | single nucleotide variant | NM_153252.5(BRWD3):c.381A>G (p.Arg127=) | Inborn genetic diseases [RCV002318831] | likely benign | X | 80791903 | 80791903 | Human | 1 | name |
| 15131501 | CV717871 | variation | NM_153252.5(BRWD3):c.3863= (p.Lys1288=) | not provided [RCV000964613] | benign | X | 80688070 | 80688070 | Human | | name |
| 15201907 | CV729721 | single nucleotide variant | NM_153252.5(BRWD3):c.858T>C (p.Thr286=) | not provided [RCV000891328] | likely benign | X | 80736044 | 80736044 | Human | | name |
| 15161858 | CV758677 | single nucleotide variant | NM_153252.5(BRWD3):c.459C>T (p.Thr153=) | not provided [RCV000925771] | likely benign | X | 80745701 | 80745701 | Human | | name |
| 15157945 | CV758678 | single nucleotide variant | NM_153252.5(BRWD3):c.423A>T (p.Pro141=) | not provided [RCV000924967] | likely benign | X | 80791861 | 80791861 | Human | | name |
| 15182769 | CV774263 | single nucleotide variant | NM_153252.5(BRWD3):c.492A>G (p.Ser164=) | BRWD3-related disorder [RCV004533581]|Inborn genetic diseases [RCV004029565]|not provided [RCV000930437] | benign|likely benign | X | 80745668 | 80745668 | Human | 2 | name , trait , alternate_id |
| 15124575 | CV786937 | single nucleotide variant | NM_153252.5(BRWD3):c.435T>C (p.Asn145=) | not provided [RCV000980036] | likely benign | X | 80745725 | 80745725 | Human | | name |
| 28876509 | CV903246 | single nucleotide variant | NM_153252.5(BRWD3):c.957C>A (p.Val319=) | Intellectual disability, X-linked 93 [RCV001166165]|not provided [RCV005056972] | benign | X | 80735155 | 80735155 | Human | 1 | name |
| 151350813 | CV1324842 | single nucleotide variant | NM_153252.5(BRWD3):c.187G>T (p.Ala63Ser) | Intellectual disability, X-linked 93 [RCV001809287] | uncertain significance | X | 80793766 | 80793766 | Human | 1 | name |
| 151350588 | CV1325614 | single nucleotide variant | NM_153252.5(BRWD3):c.164G>A (p.Arg55Lys) | not provided [RCV001814901] | uncertain significance | X | 80808555 | 80808555 | Human | | name |
| 151356273 | CV1329037 | single nucleotide variant | NM_153252.5(BRWD3):c.1002A>C (p.Thr334=) | not provided [RCV002542668]|not specified [RCV001822626] | benign|likely benign | X | 80734202 | 80734202 | Human | | name |
| 152099907 | CV1524697 | single nucleotide variant | NM_153252.5(BRWD3):c.2733G>T (p.Leu911=) | not provided [RCV002172957] | likely benign | X | 80703582 | 80703582 | Human | | name |
| 152034500 | CV1610605 | single nucleotide variant | NM_153252.5(BRWD3):c.2346T>C (p.Cys782=) | Inborn genetic diseases [RCV002443189]|not provided [RCV002125107] | benign|likely benign | X | 80709557 | 80709557 | Human | 1 | name |
| 155644850 | CV1708831 | single nucleotide variant | NM_153252.5(BRWD3):c.144G>A (p.Trp48Ter) | Intellectual disability, X-linked 93 [RCV002291428] | likely pathogenic | X | 80808575 | 80808575 | Human | 1 | name |
| 155715591 | CV1812295 | single nucleotide variant | NM_153252.5(BRWD3):c.1233C>T (p.Gly411=) | Inborn genetic diseases [RCV002362343] | likely benign | X | 80728905 | 80728905 | Human | 1 | name |
| 155685038 | CV1827202 | single nucleotide variant | NM_153252.5(BRWD3):c.1506G>T (p.Arg502=) | Inborn genetic diseases [RCV002390013]|not provided [RCV003439014] | likely benign | X | 80724948 | 80724948 | Human | 1 | name |
| 155714406 | CV1841857 | single nucleotide variant | NM_153252.5(BRWD3):c.2502C>T (p.Asp834=) | Inborn genetic diseases [RCV002431115]|not provided [RCV005098167] | benign|likely benign | X | 80707477 | 80707477 | Human | 1 | name |
| 155795435 | CV1861297 | single nucleotide variant | NM_153252.5(BRWD3):c.269G>A (p.Ser90Asn) | not provided [RCV002469579] | uncertain significance | X | 80793684 | 80793684 | Human | | name |
| 156408480 | CV1911635 | single nucleotide variant | NM_153252.5(BRWD3):c.1407C>T (p.Phe469=) | not provided [RCV002607246] | likely benign | X | 80725047 | 80725047 | Human | | name |
| 156437573 | CV1947580 | single nucleotide variant | NM_153252.5(BRWD3):c.1758T>A (p.Pro586=) | not provided [RCV003107112] | benign | X | 80722680 | 80722680 | Human | | name |
| 156287440 | CV1964678 | single nucleotide variant | NM_153252.5(BRWD3):c.2967A>T (p.Val989=) | not provided [RCV002577693] | likely benign | X | 80696840 | 80696840 | Human | | name |
| 155901489 | CV1975673 | single nucleotide variant | NM_153252.5(BRWD3):c.1998A>C (p.Gly666=) | not provided [RCV002613416] | likely benign | X | 80719535 | 80719535 | Human | | name |
| 155965990 | CV1978045 | single nucleotide variant | NM_153252.5(BRWD3):c.2655C>T (p.Ser885=) | not provided [RCV002616957] | likely benign | X | 80704744 | 80704744 | Human | | name |
| 156255216 | CV1981785 | single nucleotide variant | NM_153252.5(BRWD3):c.2979T>C (p.Tyr993=) | not provided [RCV002646029] | likely benign | X | 80696828 | 80696828 | Human | | name |
| 156351515 | CV1997731 | single nucleotide variant | NM_153252.5(BRWD3):c.1545G>A (p.Ala515=) | not provided [RCV002675628] | likely benign | X | 80723853 | 80723853 | Human | | name |
| 156142507 | CV2002820 | single nucleotide variant | NM_153252.5(BRWD3):c.2799C>T (p.Pro933=) | not provided [RCV002663619] | likely benign | X | 80703516 | 80703516 | Human | | name |
| 155943572 | CV2032500 | single nucleotide variant | NM_153252.5(BRWD3):c.2274C>T (p.Ile758=) | not provided [RCV002730273] | likely benign | X | 80716208 | 80716208 | Human | | name |
| 156084760 | CV2060452 | single nucleotide variant | NM_153252.5(BRWD3):c.1329C>T (p.Asn443=) | not provided [RCV002823973] | likely benign | X | 80728809 | 80728809 | Human | | name |
| 156169733 | CV2075478 | single nucleotide variant | NM_153252.5(BRWD3):c.1311A>G (p.Thr437=) | not provided [RCV002851492] | likely benign | X | 80728827 | 80728827 | Human | | name |
| 10407009 | CV209306 | single nucleotide variant | NM_153252.5(BRWD3):c.1755T>G (p.Pro585=) | not specified [RCV000195075] | uncertain significance | X | 80722683 | 80722683 | Human | | name |
| 156051797 | CV2187399 | single nucleotide variant | NM_153252.5(BRWD3):c.1929T>C (p.Asp643=) | not provided [RCV003036934] | likely benign | X | 80719604 | 80719604 | Human | | name |
| 243064962 | CV2409553 | single nucleotide variant | NM_153252.5(BRWD3):c.250G>C (p.Asp84His) | Intellectual disability, X-linked 93 [RCV003143825] | uncertain significance | X | 80793703 | 80793703 | Human | 1 | name |
| 8561924 | CV25842 | duplication | NM_153252.5(BRWD3):c.946dup (p.Arg316fs) | Intellectual disability, X-linked 93 [RCV000011550] | pathogenic | X | 80735165 | 80735166 | Human | 1 | name |
| 401929090 | CV2826576 | single nucleotide variant | NM_153252.5(BRWD3):c.1716A>C (p.Val572=) | not provided [RCV003439715] | benign|likely benign | X | 80722722 | 80722722 | Human | | name |
| 401964101 | CV2845020 | single nucleotide variant | NM_153252.5(BRWD3):c.296G>T (p.Gly99Val) | Intellectual disability, X-linked 93 [RCV003484585] | uncertain significance | X | 80793657 | 80793657 | Human | 1 | name |
| 405206027 | CV2913356 | single nucleotide variant | NM_153252.5(BRWD3):c.2685A>G (p.Glu895=) | not provided [RCV003566513] | benign | X | 80704714 | 80704714 | Human | | name |
| 405091241 | CV3044852 | single nucleotide variant | NM_153252.5(BRWD3):c.2613A>C (p.Pro871=) | not provided [RCV003717835] | benign | X | 80704786 | 80704786 | Human | | name |
| 405254540 | CV3055453 | single nucleotide variant | NM_153252.5(BRWD3):c.2151G>A (p.Arg717=) | not provided [RCV003723057] | likely benign | X | 80717653 | 80717653 | Human | | name |
| 405151728 | CV3063826 | single nucleotide variant | NM_153252.5(BRWD3):c.2823A>G (p.Gln941=) | not provided [RCV003726469] | likely benign | X | 80703492 | 80703492 | Human | | name |
| 402464486 | CV3081148 | duplication | NM_153252.5(BRWD3):c.439dup (p.Thr147fs) | Intellectual disability, X-linked 93 [RCV003622411] | likely pathogenic | X | 80745720 | 80745721 | Human | 1 | name |
| 405192723 | CV3128421 | single nucleotide variant | NM_153252.5(BRWD3):c.2508G>A (p.Ser836=) | not provided [RCV003821158] | benign | X | 80707471 | 80707471 | Human | | name |
| 405129818 | CV3133313 | single nucleotide variant | NM_153252.5(BRWD3):c.2604A>G (p.Leu868=) | not provided [RCV003838283] | likely benign | X | 80704795 | 80704795 | Human | | name |
| 405074380 | CV3140672 | single nucleotide variant | NM_153252.5(BRWD3):c.2784C>A (p.Ile928=) | not provided [RCV003833635] | benign | X | 80703531 | 80703531 | Human | | name |
| 405162099 | CV3160068 | single nucleotide variant | NM_153252.5(BRWD3):c.1380A>G (p.Thr460=) | not provided [RCV003857139] | likely benign | X | 80728758 | 80728758 | Human | | name |
| 405249727 | CV3180526 | single nucleotide variant | NM_153252.5(BRWD3):c.1590C>T (p.Cys530=) | not provided [RCV003869803] | likely benign | X | 80723808 | 80723808 | Human | | name |
| 405260163 | CV3190208 | single nucleotide variant | NM_153252.5(BRWD3):c.1308C>T (p.Thr436=) | BRWD3-related disorder [RCV004534661] | likely benign | X | 80728830 | 80728830 | Human | | name , trait , alternate_id |
| 11622944 | CV339611 | single nucleotide variant | NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) | Inborn genetic diseases [RCV002429334]|Intellectual disability, X-linked 93 [RCV000366434]|not provided [RCV001726151]|not specified [RCV000502732] | benign|likely benign|uncertain significance | X | 80717620 | 80717620 | Human | 2 | name |
| 408376243 | CV3505709 | single nucleotide variant | NM_153252.5(BRWD3):c.134G>C (p.Arg45Pro) | BRWD3-related disorder [RCV004726658] | uncertain significance | X | 80808585 | 80808585 | Human | | name , trait , alternate_id |
| 597898863 | CV3740875 | single nucleotide variant | NM_153252.5(BRWD3):c.1533A>G (p.Gln511=) | not provided [RCV005072038] | likely benign | X | 80723865 | 80723865 | Human | | name |
| 597970106 | CV3750114 | single nucleotide variant | NM_153252.5(BRWD3):c.1344A>G (p.Lys448=) | not provided [RCV005084055] | likely benign | X | 80728794 | 80728794 | Human | | name |
| 597970760 | CV3750143 | single nucleotide variant | NM_153252.5(BRWD3):c.1629A>G (p.Gly543=) | not provided [RCV005084084] | likely benign | X | 80723769 | 80723769 | Human | | name |
| 597971218 | CV3750660 | single nucleotide variant | NM_153252.5(BRWD3):c.1155T>C (p.Asp385=) | not provided [RCV005084404] | likely benign | X | 80729993 | 80729993 | Human | | name |
| 597936277 | CV3777633 | single nucleotide variant | NM_153252.5(BRWD3):c.2718G>A (p.Lys906=) | not provided [RCV005132546] | likely benign | X | 80704681 | 80704681 | Human | | name |
| 597884740 | CV3780646 | single nucleotide variant | NM_153252.5(BRWD3):c.2199G>A (p.Val733=) | not provided [RCV005124774] | likely benign | X | 80717605 | 80717605 | Human | | name |
| 597938859 | CV3808329 | single nucleotide variant | NM_153252.5(BRWD3):c.2868T>C (p.Tyr956=) | not provided [RCV005158517] | likely benign | X | 80700032 | 80700032 | Human | | name |
| 597836646 | CV3828468 | single nucleotide variant | NM_153252.5(BRWD3):c.2577T>C (p.Asp859=) | not provided [RCV005171361] | likely benign | X | 80704822 | 80704822 | Human | | name |
| 13830242 | CV581158 | single nucleotide variant | NM_153252.5(BRWD3):c.1962G>A (p.Leu654=) | Inborn genetic diseases [RCV002316858] | likely benign | X | 80719571 | 80719571 | Human | 1 | name |
| 13830257 | CV581159 | single nucleotide variant | NM_153252.5(BRWD3):c.1761A>G (p.Pro587=) | Inborn genetic diseases [RCV002316873] | likely benign | X | 80722677 | 80722677 | Human | 1 | name |
| 14399318 | CV614613 | single nucleotide variant | NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys) | Intellectual disability, X-linked 93 [RCV000768432] | likely pathogenic | X | 80793697 | 80793697 | Human | 1 | name |
| 15198679 | CV729720 | single nucleotide variant | NM_153252.5(BRWD3):c.1404A>G (p.Val468=) | not provided [RCV000890427] | likely benign | X | 80725050 | 80725050 | Human | | name |
| 15100880 | CV774261 | single nucleotide variant | NM_153252.5(BRWD3):c.2941A>C (p.Arg981=) | not provided [RCV000936695] | likely benign | X | 80699959 | 80699959 | Human | | name |
| 15139167 | CV774262 | single nucleotide variant | NM_153252.5(BRWD3):c.1674C>T (p.His558=) | not provided [RCV000943510] | likely benign | X | 80722764 | 80722764 | Human | | name |
| 15143882 | CV786936 | single nucleotide variant | NM_153252.5(BRWD3):c.1416A>G (p.Glu472=) | not provided [RCV000983400] | likely benign | X | 80725038 | 80725038 | Human | | name |
| 21075146 | CV798417 | single nucleotide variant | NM_153252.5(BRWD3):c.1413A>C (p.Leu471=) | not provided [RCV000995980] | likely benign | X | 80725041 | 80725041 | Human | | name |
| 40886725 | CV974440 | single nucleotide variant | NM_153252.5(BRWD3):c.1086G>A (p.Thr362=) | Inborn genetic diseases [RCV001265916]|Intellectual disability, X-linked 93 [RCV005002000] | uncertain significance | X | 80734118 | 80734118 | Human | 2 | name |
| 40890010 | CV975653 | single nucleotide variant | NM_153252.5(BRWD3):c.100C>T (p.Gln34Ter) | not provided [RCV001268573] | likely pathogenic | X | 80809033 | 80809033 | Human | | name |
| 126732076 | CV1001294 | single nucleotide variant | NM_153252.5(BRWD3):c.872C>A (p.Thr291Lys) | not provided [RCV001310739] | uncertain significance | X | 80736030 | 80736030 | Human | | name |
| 8643428 | CV102411 | single nucleotide variant | NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=) | not provided [RCV000082670] | conflicting interpretations of pathogenicity|uncertain significance | X | 80682485 | 80682485 | Human | | name |
| 150338138 | CV1173841 | single nucleotide variant | NM_153252.5(BRWD3):c.424A>C (p.Asn142His) | not provided [RCV001542074] | uncertain significance | X | 80791860 | 80791860 | Human | | name |
| 150428347 | CV1189171 | deletion | NM_153252.5(BRWD3):c.4234-140_4234-137del | not provided [RCV001562145] | likely benign | X | 80682765 | 80682768 | Human | | name |
| 150556264 | CV1296822 | single nucleotide variant | NM_153252.5(BRWD3):c.684G>T (p.Met228Ile) | not provided [RCV001774112] | uncertain significance | X | 80744161 | 80744161 | Human | | name |
| 150555334 | CV1297784 | single nucleotide variant | NM_153252.5(BRWD3):c.577A>G (p.Arg193Gly) | not provided [RCV001772692] | uncertain significance | X | 80745583 | 80745583 | Human | | name |
| 150540794 | CV1298520 | single nucleotide variant | NM_153252.5(BRWD3):c.371C>G (p.Ala124Gly) | not provided [RCV001760668] | uncertain significance | X | 80791913 | 80791913 | Human | | name |
| 8659106 | CV133980 | single nucleotide variant | NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) | Inborn genetic diseases [RCV002312042]|Intellectual disability, X-linked 93 [RCV000399425]|not provided [RCV000951362]|not specified [RCV000116503] | benign|likely benign | X | 80676918 | 80676918 | Human | 2 | name |
| 151814197 | CV1348963 | single nucleotide variant | NM_153252.5(BRWD3):c.4233G>A (p.Arg1411=) | not provided [RCV001918918] | uncertain significance | X | 80684010 | 80684010 | Human | | name |
| 151807109 | CV1400222 | single nucleotide variant | NM_153252.5(BRWD3):c.3264C>T (p.His1088=) | not provided [RCV002012089] | uncertain significance | X | 80692150 | 80692150 | Human | | name |
| 152053016 | CV1651396 | single nucleotide variant | NM_153252.5(BRWD3):c.436A>G (p.Ile146Val) | BRWD3-related disorder [RCV004543890]|Inborn genetic diseases [RCV004603171]|not provided [RCV002145916] | likely benign|uncertain significance | X | 80745724 | 80745724 | Human | 2 | name , trait , alternate_id |
| 153348622 | CV1692666 | single nucleotide variant | NM_153252.5(BRWD3):c.513G>C (p.Lys171Asn) | not provided [RCV002274521] | uncertain significance | X | 80745647 | 80745647 | Human | | name |
| 153350035 | CV1693996 | single nucleotide variant | NM_153252.5(BRWD3):c.3363C>T (p.Val1121=) | not provided [RCV002276472] | likely benign | X | 80691941 | 80691941 | Human | | name |
| 155265571 | CV1695715 | single nucleotide variant | NM_153252.5(BRWD3):c.329A>G (p.Lys110Arg) | not provided [RCV002280446] | uncertain significance | X | 80793624 | 80793624 | Human | | name |
| 155267131 | CV1699445 | single nucleotide variant | NM_153252.5(BRWD3):c.993G>A (p.Met331Ile) | not provided [RCV002283240] | uncertain significance | X | 80734211 | 80734211 | Human | | name |
| 155701790 | CV1776188 | single nucleotide variant | NM_153252.5(BRWD3):c.598G>C (p.Asp200His) | not provided [RCV002300009] | uncertain significance | X | 80744247 | 80744247 | Human | | name |
| 155691697 | CV1778036 | single nucleotide variant | NM_153252.5(BRWD3):c.989G>A (p.Gly330Asp) | not provided [RCV002299341] | uncertain significance | X | 80734215 | 80734215 | Human | | name |
| 155686347 | CV1789885 | single nucleotide variant | NM_153252.5(BRWD3):c.3837C>T (p.Asp1279=) | Inborn genetic diseases [RCV002355427]|not provided [RCV003718492] | benign|likely benign | X | 80688096 | 80688096 | Human | 1 | name |
| 155687097 | CV1796831 | single nucleotide variant | NM_153252.5(BRWD3):c.3936A>G (p.Leu1312=) | Inborn genetic diseases [RCV002373244]|not provided [RCV005096441] | benign|likely benign | X | 80686932 | 80686932 | Human | 1 | name |
| 155733539 | CV1802073 | single nucleotide variant | NM_153252.5(BRWD3):c.4872C>T (p.Asp1624=) | Inborn genetic diseases [RCV002340432]|not provided [RCV005058389] | likely benign | X | 80677146 | 80677146 | Human | 1 | name |
| 155707893 | CV1823167 | single nucleotide variant | NM_153252.5(BRWD3):c.763G>A (p.Ala255Thr) | Inborn genetic diseases [RCV002396349] | uncertain significance | X | 80744082 | 80744082 | Human | 1 | name |
| 156268767 | CV1915162 | single nucleotide variant | NM_153252.5(BRWD3):c.5229A>G (p.Arg1743=) | not provided [RCV002628018] | benign | X | 80676789 | 80676789 | Human | | name |
| 10049205 | CV196081 | single nucleotide variant | NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) | Inborn genetic diseases [RCV002399642]|Intellectual disability, X-linked 93 [RCV001166166]|not provided [RCV000514166]|not specified [RCV000180381] | benign|likely benign | X | 80744076 | 80744076 | Human | 2 | name |
| 156354165 | CV1962247 | single nucleotide variant | NM_153252.5(BRWD3):c.4644A>G (p.Pro1548=) | not provided [RCV002581272] | likely benign | X | 80681351 | 80681351 | Human | | name |
| 156397755 | CV1965764 | single nucleotide variant | NM_153252.5(BRWD3):c.4815G>A (p.Glu1605=) | not provided [RCV002584547] | likely benign | X | 80677203 | 80677203 | Human | | name |
| 156252662 | CV1967277 | single nucleotide variant | NM_153252.5(BRWD3):c.4524A>T (p.Leu1508=) | not provided [RCV002597521] | benign | X | 80681471 | 80681471 | Human | | name |
| 156312369 | CV1969777 | single nucleotide variant | NM_153252.5(BRWD3):c.4125G>A (p.Val1375=) | not provided [RCV002578764] | likely benign | X | 80684118 | 80684118 | Human | | name |
| 156048368 | CV1978149 | single nucleotide variant | NM_153252.5(BRWD3):c.4566G>A (p.Ser1522=) | not provided [RCV002590577] | likely benign | X | 80681429 | 80681429 | Human | | name |
| 156253455 | CV1985021 | single nucleotide variant | NM_153252.5(BRWD3):c.299T>A (p.Val100Asp) | not provided [RCV002645971]|not specified [RCV004700794] | uncertain significance | X | 80793654 | 80793654 | Human | | name |
| 156191757 | CV1994672 | single nucleotide variant | NM_153252.5(BRWD3):c.3549T>C (p.Ala1183=) | not provided [RCV002643334] | likely benign | X | 80691106 | 80691106 | Human | | name |
| 156218802 | CV1995614 | single nucleotide variant | NM_153252.5(BRWD3):c.3297A>G (p.Pro1099=) | not provided [RCV002667145] | likely benign | X | 80692117 | 80692117 | Human | | name |
| 156029678 | CV2001042 | single nucleotide variant | NM_153252.5(BRWD3):c.736G>A (p.Val246Ile) | not provided [RCV002658606] | likely benign | X | 80744109 | 80744109 | Human | | name |
| 156170902 | CV2016137 | single nucleotide variant | NM_153252.5(BRWD3):c.682A>G (p.Met228Val) | not provided [RCV002710481] | benign | X | 80744163 | 80744163 | Human | | name |
| 155982154 | CV2025351 | single nucleotide variant | NM_153252.5(BRWD3):c.5118G>T (p.Gly1706=) | not provided [RCV002755378] | likely benign | X | 80676900 | 80676900 | Human | | name |
| 156024773 | CV2077977 | single nucleotide variant | NM_153252.5(BRWD3):c.3093T>C (p.Ile1031=) | not provided [RCV002866781] | likely benign | X | 80695966 | 80695966 | Human | | name |
| 10406730 | CV209302 | single nucleotide variant | NM_153252.5(BRWD3):c.3690A>G (p.Ala1230=) | not provided [RCV000921416]|not specified [RCV000193883] | likely benign|uncertain significance | X | 80690005 | 80690005 | Human | | name |
| 10404079 | CV209304 | single nucleotide variant | NM_153252.5(BRWD3):c.3324A>G (p.Gly1108=) | not provided [RCV005055697]|not specified [RCV000194130] | likely benign|uncertain significance | X | 80692090 | 80692090 | Human | | name |
| 155943107 | CV2154446 | single nucleotide variant | NM_153252.5(BRWD3):c.469C>T (p.Arg157Cys) | not provided [RCV003014397] | uncertain significance | X | 80745691 | 80745691 | Human | | name |
| 156183466 | CV2178510 | single nucleotide variant | NM_153252.5(BRWD3):c.4017G>A (p.Glu1339=) | not provided [RCV003057602] | likely benign | X | 80685525 | 80685525 | Human | | name |
| 156256622 | CV2219781 | single nucleotide variant | NM_153252.5(BRWD3):c.746G>A (p.Trp249Ter) | Inborn genetic diseases [RCV002702770] | pathogenic | X | 80744099 | 80744099 | Human | 1 | name |
| 156382118 | CV2227202 | single nucleotide variant | NM_153252.5(BRWD3):c.392C>T (p.Pro131Leu) | Inborn genetic diseases [RCV002722710] | uncertain significance | X | 80791892 | 80791892 | Human | 1 | name |
| 243064961 | CV2409552 | single nucleotide variant | NM_153252.5(BRWD3):c.869G>A (p.Gly290Glu) | Intellectual disability, X-linked 93 [RCV003143824] | uncertain significance | X | 80736033 | 80736033 | Human | 1 | name |
| 243054070 | CV2416497 | single nucleotide variant | NM_153252.5(BRWD3):c.379A>G (p.Arg127Gly) | not provided [RCV003149558] | uncertain significance | X | 80791905 | 80791905 | Human | | name |
| 329350114 | CV2477276 | single nucleotide variant | NM_153252.5(BRWD3):c.652C>T (p.Leu218Phe) | not provided [RCV003221601] | uncertain significance | X | 80744193 | 80744193 | Human | | name |
| 401797705 | CV2741062 | single nucleotide variant | NM_153252.5(BRWD3):c.602A>T (p.Asp201Val) | not provided [RCV003322226] | uncertain significance | X | 80744243 | 80744243 | Human | | name |
| 401856216 | CV2752380 | single nucleotide variant | NM_153252.5(BRWD3):c.463T>G (p.Cys155Gly) | Intellectual disability, X-linked 93 [RCV003340717] | uncertain significance | X | 80745697 | 80745697 | Human | 1 | name |
| 401861211 | CV2769576 | single nucleotide variant | NM_153252.5(BRWD3):c.309G>C (p.Gln103His) | Inborn genetic diseases [RCV003357711] | likely benign | X | 80793644 | 80793644 | Human | 1 | name |
| 401929076 | CV2826572 | single nucleotide variant | NM_153252.5(BRWD3):c.4426T>C (p.Leu1476=) | not provided [RCV003439711] | likely benign | X | 80682066 | 80682066 | Human | | name |
| 401929084 | CV2826574 | single nucleotide variant | NM_153252.5(BRWD3):c.3759T>C (p.Thr1253=) | not provided [RCV003439713] | likely benign | X | 80689816 | 80689816 | Human | | name |
| 405224731 | CV2885433 | single nucleotide variant | NM_153252.5(BRWD3):c.3480G>A (p.Leu1160=) | not provided [RCV003554393] | uncertain significance | X | 80691824 | 80691824 | Human | | name |
| 402475048 | CV2916042 | single nucleotide variant | NM_153252.5(BRWD3):c.4575T>C (p.Gly1525=) | not provided [RCV003571283] | likely benign | X | 80681420 | 80681420 | Human | | name |
| 405178472 | CV2959859 | single nucleotide variant | NM_153252.5(BRWD3):c.368C>T (p.Ala123Val) | not provided [RCV003676045] | uncertain significance | X | 80791916 | 80791916 | Human | | name |
| 402524642 | CV3007774 | single nucleotide variant | NM_153252.5(BRWD3):c.3633C>G (p.Arg1211=) | not provided [RCV003716690] | likely benign | X | 80690062 | 80690062 | Human | | name |
| 405242134 | CV3014437 | single nucleotide variant | NM_153252.5(BRWD3):c.5247A>G (p.Thr1749=) | not provided [RCV003719285] | likely benign | X | 80676771 | 80676771 | Human | | name |
| 405071639 | CV3034426 | single nucleotide variant | NM_153252.5(BRWD3):c.464G>A (p.Cys155Tyr) | not provided [RCV003698357] | uncertain significance | X | 80745696 | 80745696 | Human | | name |
| 402498962 | CV3038300 | single nucleotide variant | NM_153252.5(BRWD3):c.5055A>G (p.Gly1685=) | not provided [RCV003714542] | benign | X | 80676963 | 80676963 | Human | | name |
| 405221178 | CV3060138 | single nucleotide variant | NM_153252.5(BRWD3):c.3180C>T (p.Asp1060=) | not provided [RCV003733334] | likely benign | X | 80693023 | 80693023 | Human | | name |
| 405202148 | CV3067018 | single nucleotide variant | NM_153252.5(BRWD3):c.560C>T (p.Ala187Val) | not provided [RCV003730880] | uncertain significance | X | 80745600 | 80745600 | Human | | name |
| 405017085 | CV3124875 | single nucleotide variant | NM_153252.5(BRWD3):c.5178A>C (p.Ala1726=) | not provided [RCV003829500] | benign | X | 80676840 | 80676840 | Human | | name |
| 405027601 | CV3129770 | single nucleotide variant | NM_153252.5(BRWD3):c.4293C>A (p.Ile1431=) | not provided [RCV003830368] | likely benign | X | 80682569 | 80682569 | Human | | name |
| 405143870 | CV3155736 | single nucleotide variant | NM_153252.5(BRWD3):c.409T>A (p.Tyr137Asn) | Inborn genetic diseases [RCV004605063]|not provided [RCV003855778] | benign|likely benign | X | 80791875 | 80791875 | Human | 1 | name |
| 405082371 | CV3166813 | single nucleotide variant | NM_153252.5(BRWD3):c.3006C>T (p.Cys1002=) | not provided [RCV003851587] | likely benign | X | 80696801 | 80696801 | Human | | name |
| 405228618 | CV3180401 | single nucleotide variant | NM_153252.5(BRWD3):c.4089A>G (p.Gln1363=) | not provided [RCV003864822] | likely benign | X | 80684154 | 80684154 | Human | | name |
| 404981018 | CV3183364 | single nucleotide variant | NM_153252.5(BRWD3):c.3489C>T (p.Ala1163=) | not provided [RCV003880387] | benign | X | 80691166 | 80691166 | Human | | name |
| 405270583 | CV3212014 | single nucleotide variant | NM_153252.5(BRWD3):c.3084G>A (p.Pro1028=) | BRWD3-related disorder [RCV004543928] | likely benign | X | 80695975 | 80695975 | Human | | name , trait , alternate_id |
| 11629885 | CV349104 | single nucleotide variant | NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) | BRWD3-related disorder [RCV004530495]|Inborn genetic diseases [RCV002317882]|Intellectual disability, X-linked 93 [RCV000336048]|not provided [RCV000909425] | benign|likely benign | X | 80676888 | 80676888 | Human | 2 | name , trait , alternate_id |
| 408387184 | CV3518737 | single nucleotide variant | NM_153252.5(BRWD3):c.764C>T (p.Ala255Val) | not provided [RCV004761056] | uncertain significance | X | 80744081 | 80744081 | Human | | name |
| 408390194 | CV3519246 | single nucleotide variant | NM_153252.5(BRWD3):c.760T>G (p.Cys254Gly) | not provided [RCV004762555] | uncertain significance | X | 80744085 | 80744085 | Human | | name |
| 408393823 | CV3519946 | single nucleotide variant | NM_153252.5(BRWD3):c.622G>T (p.Ala208Ser) | not provided [RCV004764242] | uncertain significance | X | 80744223 | 80744223 | Human | | name |
| 408380974 | CV3523721 | single nucleotide variant | NM_153252.5(BRWD3):c.5073C>T (p.Gly1691=) | not provided [RCV004766119] | uncertain significance | X | 80676945 | 80676945 | Human | | name |
| 408390250 | CV3525000 | single nucleotide variant | NM_153252.5(BRWD3):c.907A>C (p.Lys303Gln) | not provided [RCV004769895] | uncertain significance | X | 80735995 | 80735995 | Human | | name |
| 408392319 | CV3528090 | single nucleotide variant | NM_153252.5(BRWD3):c.964T>C (p.Ser322Pro) | not provided [RCV004775858] | uncertain significance | X | 80735148 | 80735148 | Human | | name |
| 408386464 | CV3528939 | single nucleotide variant | NM_153252.5(BRWD3):c.592G>A (p.Gly198Ser) | not provided [RCV004772772] | uncertain significance | X | 80744253 | 80744253 | Human | | name |
| 11628618 | CV352962 | single nucleotide variant | NM_153252.5(BRWD3):c.4263C>T (p.Ala1421=) | Intellectual disability, X-linked 93 [RCV000305786] | uncertain significance | X | 80682599 | 80682599 | Human | 1 | name |
| 596920462 | CV3534666 | single nucleotide variant | NM_153252.5(BRWD3):c.608T>G (p.Leu203Ter) | Intellectual disability, X-linked 93 [RCV004782233] | likely pathogenic | X | 80744237 | 80744237 | Human | 1 | name |
| 596922588 | CV3537297 | single nucleotide variant | NM_153252.5(BRWD3):c.319C>T (p.Arg107Trp) | not provided [RCV004787267] | uncertain significance | X | 80793634 | 80793634 | Human | | name |
| 12741944 | CV361256 | single nucleotide variant | NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter) | Intellectual disability, X-linked 93 [RCV000415462] | pathogenic | X | 80745592 | 80745592 | Human | 1 | name |
| 597637424 | CV3637310 | single nucleotide variant | NM_153252.5(BRWD3):c.560C>G (p.Ala187Gly) | Inborn genetic diseases [RCV004970197] | uncertain significance | X | 80745600 | 80745600 | Human | 1 | name |
| 597655863 | CV3731521 | single nucleotide variant | NM_153252.5(BRWD3):c.952G>A (p.Gly318Arg) | not provided [RCV005001702] | uncertain significance | X | 80735160 | 80735160 | Human | | name |
| 597878703 | CV3744405 | single nucleotide variant | NM_153252.5(BRWD3):c.4491T>C (p.Ser1497=) | not provided [RCV005069619] | benign | X | 80682001 | 80682001 | Human | | name |
| 597928001 | CV3749081 | single nucleotide variant | NM_153252.5(BRWD3):c.398T>A (p.Leu133Gln) | not provided [RCV005075537] | uncertain significance | X | 80791886 | 80791886 | Human | | name |
| 597966046 | CV3751485 | single nucleotide variant | NM_153252.5(BRWD3):c.656G>A (p.Arg219His) | not provided [RCV005082854] | uncertain significance | X | 80744189 | 80744189 | Human | | name |
| 597945653 | CV3755410 | single nucleotide variant | NM_153252.5(BRWD3):c.3669A>G (p.Pro1223=) | not provided [RCV005078419] | likely benign | X | 80690026 | 80690026 | Human | | name |
| 597946302 | CV3774845 | single nucleotide variant | NM_153252.5(BRWD3):c.421C>G (p.Pro141Ala) | not provided [RCV005119942] | uncertain significance | X | 80791863 | 80791863 | Human | | name |
| 597919747 | CV3781158 | single nucleotide variant | NM_153252.5(BRWD3):c.4044T>C (p.Val1348=) | not provided [RCV005130040] | likely benign | X | 80685498 | 80685498 | Human | | name |
| 597898255 | CV3782536 | single nucleotide variant | NM_153252.5(BRWD3):c.4704G>A (p.Arg1568=) | not provided [RCV005126761] | likely benign | X | 80677314 | 80677314 | Human | | name |
| 12838171 | CV379482 | single nucleotide variant | NM_153252.5(BRWD3):c.478C>T (p.His160Tyr) | not provided [RCV000426469] | uncertain significance | X | 80745682 | 80745682 | Human | | name |
| 12844338 | CV379484 | single nucleotide variant | NM_153252.5(BRWD3):c.460G>A (p.Gly154Ser) | not provided [RCV000437817] | uncertain significance | X | 80745700 | 80745700 | Human | | name |
| 597952333 | CV3795105 | single nucleotide variant | NM_153252.5(BRWD3):c.3252T>C (p.Cys1084=) | not provided [RCV005136317] | likely benign | X | 80692951 | 80692951 | Human | | name |
| 597853416 | CV3805801 | single nucleotide variant | NM_153252.5(BRWD3):c.3972A>G (p.Pro1324=) | not provided [RCV005145731] | benign | X | 80686896 | 80686896 | Human | | name |
| 597968957 | CV3821321 | single nucleotide variant | NM_153252.5(BRWD3):c.5079A>G (p.Gly1693=) | not provided [RCV005165963] | likely benign | X | 80676939 | 80676939 | Human | | name |
| 597957194 | CV3838450 | single nucleotide variant | NM_153252.5(BRWD3):c.4023G>A (p.Glu1341=) | not provided [RCV005191825] | likely benign | X | 80685519 | 80685519 | Human | | name |
| 597918972 | CV3842494 | single nucleotide variant | NM_153252.5(BRWD3):c.4491T>A (p.Ser1497=) | not provided [RCV005183979] | likely benign | X | 80682001 | 80682001 | Human | | name |
| 597896861 | CV3854116 | single nucleotide variant | NM_153252.5(BRWD3):c.5355G>A (p.Val1785=) | not provided [RCV005201400] | likely benign | X | 80676663 | 80676663 | Human | | name |
| 598127261 | CV3882540 | single nucleotide variant | NM_153252.5(BRWD3):c.752T>C (p.Leu251Pro) | not provided [RCV005234092] | uncertain significance | X | 80744093 | 80744093 | Human | | name |
| 598159253 | CV3897052 | single nucleotide variant | NM_153252.5(BRWD3):c.854C>T (p.Ser285Phe) | not provided [RCV005368026] | uncertain significance | X | 80736048 | 80736048 | Human | | name |
| 598210978 | CV3939086 | single nucleotide variant | NM_153252.5(BRWD3):c.335G>A (p.Cys112Tyr) | Inborn genetic diseases [RCV005315943] | uncertain significance | X | 80791949 | 80791949 | Human | 1 | name |
| 598174728 | CV3939088 | single nucleotide variant | NM_153252.5(BRWD3):c.413T>C (p.Val138Ala) | Inborn genetic diseases [RCV005309753] | uncertain significance | X | 80791871 | 80791871 | Human | 1 | name |
| 616935312 | CV4009452 | single nucleotide variant | NM_153252.5(BRWD3):c.340A>C (p.Ser114Arg) | not provided [RCV005402624] | uncertain significance | X | 80791944 | 80791944 | Human | | name |
| 616936236 | CV4016252 | single nucleotide variant | NM_153252.5(BRWD3):c.3603G>A (p.Arg1201=) | not provided [RCV005415118] | uncertain significance | X | 80690092 | 80690092 | Human | | name |
| 617152621 | CV4017872 | single nucleotide variant | NM_153252.5(BRWD3):c.590C>T (p.Thr197Ile) | Intellectual disability, X-linked 93 [RCV005417662] | uncertain significance | X | 80745570 | 80745570 | Human | 1 | name |
| 12900767 | CV411501 | single nucleotide variant | NM_153252.5(BRWD3):c.638G>A (p.Arg213His) | not provided [RCV000483139] | uncertain significance | X | 80744207 | 80744207 | Human | | name |
| 13480851 | CV446795 | single nucleotide variant | NM_153252.5(BRWD3):c.488C>T (p.Pro163Leu) | not provided [RCV000521343] | uncertain significance | X | 80745672 | 80745672 | Human | | name |
| 15191743 | CV743487 | single nucleotide variant | NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=) | BRWD3-related disorder [RCV004541937]|Inborn genetic diseases [RCV002336895]|Intellectual disability, X-linked 93 [RCV002502730]|not provided [RCV000910335] | benign|likely benign | X | 80681423 | 80681423 | Human | 2 | name , trait , alternate_id |
| 15165937 | CV743488 | single nucleotide variant | NM_153252.5(BRWD3):c.4524A>G (p.Leu1508=) | BRWD3-related disorder [RCV004541906]|not provided [RCV000904333] | likely benign | X | 80681471 | 80681471 | Human | 1 | name , trait , alternate_id |
| 15183242 | CV743489 | single nucleotide variant | NM_153252.5(BRWD3):c.4314C>T (p.Ile1438=) | not provided [RCV000908016] | likely benign | X | 80682548 | 80682548 | Human | | name |
| 15184987 | CV774260 | single nucleotide variant | NM_153252.5(BRWD3):c.3672C>T (p.Asp1224=) | not provided [RCV000930937] | likely benign | X | 80690023 | 80690023 | Human | | name |
| 21075142 | CV798413 | single nucleotide variant | NM_153252.5(BRWD3):c.4137G>A (p.Leu1379=) | not provided [RCV000995976] | uncertain significance | X | 80684106 | 80684106 | Human | | name |
| 21075143 | CV798414 | single nucleotide variant | NM_153252.5(BRWD3):c.3432C>T (p.Asp1144=) | not provided [RCV000995977] | benign|likely benign | X | 80691872 | 80691872 | Human | | name |
| 28883884 | CV903242 | single nucleotide variant | NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=) | Intellectual disability, X-linked 93 [RCV001168338]|not provided [RCV002559613] | benign | X | 80686929 | 80686929 | Human | 1 | name |
| 28886499 | CV903243 | single nucleotide variant | NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=) | BRWD3-related disorder [RCV004545097]|Inborn genetic diseases [RCV002451349]|Intellectual disability, X-linked 93 [RCV001169079]|not provided [RCV002557463] | benign|likely benign | X | 80692096 | 80692096 | Human | 2 | name , trait , alternate_id |
| 28876511 | CV903247 | single nucleotide variant | NM_153252.5(BRWD3):c.637C>T (p.Arg213Cys) | Intellectual disability, X-linked 93 [RCV001166167] | uncertain significance | X | 80744208 | 80744208 | Human | 1 | name |
| 40887380 | CV974441 | single nucleotide variant | NM_153252.5(BRWD3):c.473T>C (p.Phe158Ser) | Inborn genetic diseases [RCV001266941] | uncertain significance | X | 80745687 | 80745687 | Human | 1 | name |
| 126744557 | CV1019089 | single nucleotide variant | NM_153252.5(BRWD3):c.2689A>T (p.Arg897Trp) | Intellectual disability, X-linked 93 [RCV001330464] | uncertain significance | X | 80704710 | 80704710 | Human | 1 | name |
| 150554217 | CV1296618 | single nucleotide variant | NM_153252.5(BRWD3):c.1282A>G (p.Met428Val) | not provided [RCV001770855] | uncertain significance | X | 80728856 | 80728856 | Human | | name |
| 150531053 | CV1299265 | single nucleotide variant | NM_153252.5(BRWD3):c.2304G>C (p.Lys768Asn) | not provided [RCV001756958] | uncertain significance | X | 80716178 | 80716178 | Human | | name |
| 150549573 | CV1299529 | single nucleotide variant | NM_153252.5(BRWD3):c.1823G>A (p.Arg608Gln) | not provided [RCV001752455] | uncertain significance | X | 80722615 | 80722615 | Human | | name |
| 150550491 | CV1300277 | single nucleotide variant | NM_153252.5(BRWD3):c.2114T>C (p.Ile705Thr) | not provided [RCV001765747] | uncertain significance | X | 80717690 | 80717690 | Human | | name |
| 150556407 | CV1303084 | single nucleotide variant | NM_153252.5(BRWD3):c.2633C>T (p.Thr878Ile) | not provided [RCV001774277] | uncertain significance | X | 80704766 | 80704766 | Human | | name |
| 150535752 | CV1312017 | single nucleotide variant | NM_153252.5(BRWD3):c.2083A>C (p.Asn695His) | not provided [RCV001779828] | uncertain significance | X | 80717721 | 80717721 | Human | | name |
| 151235513 | CV1318838 | single nucleotide variant | NM_153252.5(BRWD3):c.2096G>A (p.Arg699Gln) | not provided [RCV001795657] | uncertain significance | X | 80717708 | 80717708 | Human | | name |
| 151234535 | CV1320303 | single nucleotide variant | NM_153252.5(BRWD3):c.2315C>T (p.Thr772Ile) | not provided [RCV001799927] | uncertain significance | X | 80716167 | 80716167 | Human | | name |
| 151747242 | CV1364845 | single nucleotide variant | NM_153252.5(BRWD3):c.1384T>A (p.Ser462Thr) | not provided [RCV001985876] | uncertain significance | X | 80728754 | 80728754 | Human | | name |
| 151836210 | CV1383019 | single nucleotide variant | NM_153252.5(BRWD3):c.1738G>A (p.Ala580Thr) | not provided [RCV001935585] | uncertain significance | X | 80722700 | 80722700 | Human | | name |
| 152034974 | CV1670069 | single nucleotide variant | NM_153252.5(BRWD3):c.2443G>A (p.Gly815Ser) | not provided [RCV002223603] | uncertain significance | X | 80709460 | 80709460 | Human | | name |
| 152980598 | CV1676019 | single nucleotide variant | NM_153252.5(BRWD3):c.1789C>T (p.His597Tyr) | not provided [RCV002245088] | uncertain significance | X | 80722649 | 80722649 | Human | | name |
| 153001952 | CV1682741 | single nucleotide variant | NM_153252.5(BRWD3):c.1685G>A (p.Arg562His) | not provided [RCV002251820] | uncertain significance | X | 80722753 | 80722753 | Human | | name |
| 155641793 | CV1706048 | single nucleotide variant | NM_153252.5(BRWD3):c.1799A>T (p.Lys600Ile) | not provided [RCV002286910] | uncertain significance | X | 80722639 | 80722639 | Human | | name |
| 155642309 | CV1706221 | single nucleotide variant | NM_153252.5(BRWD3):c.2632A>G (p.Thr878Ala) | not provided [RCV002287084] | uncertain significance | X | 80704767 | 80704767 | Human | | name |
| 155726558 | CV1812013 | single nucleotide variant | NM_153252.5(BRWD3):c.1227G>A (p.Met409Ile) | Inborn genetic diseases [RCV002364636]|not provided [RCV003669283] | likely benign|uncertain significance | X | 80729921 | 80729921 | Human | 1 | name |
| 155678794 | CV1851891 | single nucleotide variant | NM_153252.5(BRWD3):c.2542A>G (p.Ser848Gly) | Inborn genetic diseases [RCV002455795]|not provided [RCV003101947] | benign|likely benign | X | 80707437 | 80707437 | Human | 1 | name |
| 155798227 | CV1859655 | single nucleotide variant | NM_153252.5(BRWD3):c.2656T>C (p.Ser886Pro) | Intellectual disability, X-linked 93 [RCV002465447] | uncertain significance | X | 80704743 | 80704743 | Human | 1 | name |
| 155797869 | CV1860535 | single nucleotide variant | NM_153252.5(BRWD3):c.2165C>A (p.Thr722Asn) | not provided [RCV002467177] | uncertain significance | X | 80717639 | 80717639 | Human | | name |
| 155953056 | CV1896420 | single nucleotide variant | NM_153252.5(BRWD3):c.2261G>C (p.Gly754Ala) | not provided [RCV003095436] | uncertain significance | X | 80716221 | 80716221 | Human | | name |
| 10050590 | CV192155 | single nucleotide variant | NM_153252.5(BRWD3):c.2083A>G (p.Asn695Asp) | not provided [RCV000175490] | uncertain significance | X | 80717721 | 80717721 | Human | | name |
| 155946860 | CV1935683 | single nucleotide variant | NM_153252.5(BRWD3):c.1684C>T (p.Arg562Cys) | not provided [RCV002511433] | uncertain significance | X | 80722754 | 80722754 | Human | | name |
| 156445171 | CV1945169 | single nucleotide variant | NM_153252.5(BRWD3):c.2012T>C (p.Leu671Ser) | not provided [RCV003116109] | likely benign | X | 80719521 | 80719521 | Human | | name |
| 156161340 | CV1977813 | single nucleotide variant | NM_153252.5(BRWD3):c.2378G>A (p.Arg793His) | Inborn genetic diseases [RCV004965956]|not provided [RCV002594478] | benign|likely benign | X | 80709525 | 80709525 | Human | 1 | name |
| 155911874 | CV2021697 | single nucleotide variant | NM_153252.5(BRWD3):c.2671T>G (p.Leu891Val) | not provided [RCV002726866] | likely benign | X | 80704728 | 80704728 | Human | | name |
| 156259943 | CV2037628 | single nucleotide variant | NM_153252.5(BRWD3):c.2039A>T (p.Asn680Ile) | not provided [RCV002806293] | likely benign | X | 80719494 | 80719494 | Human | | name |
| 155967197 | CV2049035 | single nucleotide variant | NM_153252.5(BRWD3):c.2843A>G (p.Tyr948Cys) | Intellectual disability, X-linked 93 [RCV002776560] | uncertain significance | X | 80700057 | 80700057 | Human | 1 | name |
| 10406469 | CV209305 | single nucleotide variant | NM_153252.5(BRWD3):c.2105G>A (p.Ser702Asn) | not specified [RCV000192738] | likely benign | X | 80717699 | 80717699 | Human | | name |
| 156351631 | CV2157570 | single nucleotide variant | NM_153252.5(BRWD3):c.2413C>T (p.His805Tyr) | not provided [RCV003030917] | uncertain significance | X | 80709490 | 80709490 | Human | | name |
| 156275916 | CV2209718 | single nucleotide variant | NM_153252.5(BRWD3):c.2479G>T (p.Asp827Tyr) | Inborn genetic diseases [RCV002669845]|not provided [RCV003777609] | uncertain significance | X | 80707500 | 80707500 | Human | 1 | name |
| 155915460 | CV2243784 | single nucleotide variant | NM_153252.5(BRWD3):c.1943A>T (p.Asp648Val) | Inborn genetic diseases [RCV002772217] | uncertain significance | X | 80719590 | 80719590 | Human | 1 | name |
| 155923681 | CV2248575 | single nucleotide variant | NM_153252.5(BRWD3):c.2183C>T (p.Ala728Val) | Inborn genetic diseases [RCV002773347] | uncertain significance | X | 80717621 | 80717621 | Human | 1 | name |
| 156259913 | CV2274151 | single nucleotide variant | NM_153252.5(BRWD3):c.1490G>A (p.Arg497Gln) | Inborn genetic diseases [RCV002831645] | likely benign | X | 80724964 | 80724964 | Human | 1 | name |
| 243063760 | CV2405160 | single nucleotide variant | NM_153252.5(BRWD3):c.2722A>G (p.Lys908Glu) | Intellectual disability, X-linked 93 [RCV003142292] | uncertain significance | X | 80703593 | 80703593 | Human | 1 | name |
| 243064958 | CV2409549 | single nucleotide variant | NM_153252.5(BRWD3):c.2678C>T (p.Ser893Phe) | Intellectual disability, X-linked 93 [RCV003143821] | uncertain significance | X | 80704721 | 80704721 | Human | 1 | name |
| 243062215 | CV2414451 | single nucleotide variant | NM_153252.5(BRWD3):c.2095C>T (p.Arg699Ter) | Intellectual disability, X-linked 93 [RCV003139521] | likely pathogenic | X | 80717709 | 80717709 | Human | 1 | name |
| 243051544 | CV2415907 | duplication | NM_153252.5(BRWD3):c.3899dup (p.Cys1300fs) | Intellectual disability, X-linked 93 [RCV003148525] | likely pathogenic | X | 80686968 | 80686969 | Human | 1 | name |
| 329351109 | CV2476261 | single nucleotide variant | NM_153252.5(BRWD3):c.2864C>G (p.Ala955Gly) | Intellectual disability, X-linked 93 [RCV003222502] | pathogenic | X | 80700036 | 80700036 | Human | 1 | name |
| 329349576 | CV2477121 | single nucleotide variant | NM_153252.5(BRWD3):c.1696C>T (p.Arg566Cys) | not provided [RCV003221446] | uncertain significance | X | 80722742 | 80722742 | Human | | name |
| 329954445 | CV2669130 | single nucleotide variant | NM_153252.5(BRWD3):c.2062A>T (p.Met688Leu) | not provided [RCV003232963] | uncertain significance | X | 80717742 | 80717742 | Human | | name |
| 329952380 | CV2671730 | single nucleotide variant | NM_153252.5(BRWD3):c.1489C>G (p.Arg497Gly) | not provided [RCV003237126] | uncertain significance | X | 80724965 | 80724965 | Human | | name |
| 401758775 | CV2705124 | single nucleotide variant | NM_153252.5(BRWD3):c.2698A>G (p.Lys900Glu) | Inborn genetic diseases [RCV003256589] | uncertain significance | X | 80704701 | 80704701 | Human | 1 | name |
| 401740357 | CV2738708 | single nucleotide variant | NM_153252.5(BRWD3):c.1875T>A (p.Asn625Lys) | not provided [RCV003318102] | uncertain significance | X | 80722563 | 80722563 | Human | | name |
| 401799234 | CV2741812 | single nucleotide variant | NM_153252.5(BRWD3):c.2065G>C (p.Asp689His) | not provided [RCV003323220] | uncertain significance | X | 80717739 | 80717739 | Human | | name |
| 401829976 | CV2744099 | single nucleotide variant | NM_153252.5(BRWD3):c.2945A>G (p.Glu982Gly) | not provided [RCV003327244] | uncertain significance | X | 80696862 | 80696862 | Human | | name |
| 401871893 | CV2749602 | single nucleotide variant | NM_153252.5(BRWD3):c.2861A>G (p.Glu954Gly) | not provided [RCV003332730] | uncertain significance | X | 80700039 | 80700039 | Human | | name |
| 401859991 | CV2794444 | single nucleotide variant | NM_153252.5(BRWD3):c.2691G>T (p.Arg897Ser) | not provided [RCV003387612] | uncertain significance | X | 80704708 | 80704708 | Human | | name |
| 401933304 | CV2797601 | single nucleotide variant | NM_153252.5(BRWD3):c.2387C>G (p.Thr796Ser) | BRWD3-related disorder [RCV004531718] | uncertain significance | X | 80709516 | 80709516 | Human | | name , trait , alternate_id |
| 401933502 | CV2802194 | single nucleotide variant | NM_153252.5(BRWD3):c.2219A>G (p.Asn740Ser) | BRWD3-related disorder [RCV004534248] | uncertain significance | X | 80717585 | 80717585 | Human | | name , trait , alternate_id |
| 401929087 | CV2826575 | single nucleotide variant | NM_153252.5(BRWD3):c.2350C>T (p.Arg784Cys) | not provided [RCV003439714] | uncertain significance | X | 80709553 | 80709553 | Human | | name |
| 401929093 | CV2826577 | single nucleotide variant | NM_153252.5(BRWD3):c.1586C>T (p.Ala529Val) | not provided [RCV003439716] | uncertain significance | X | 80723812 | 80723812 | Human | | name |
| 401912945 | CV2830104 | single nucleotide variant | NM_153252.5(BRWD3):c.2872C>T (p.Arg958Trp) | not provided [RCV003441318] | uncertain significance | X | 80700028 | 80700028 | Human | | name |
| 401944966 | CV2840766 | single nucleotide variant | NM_153252.5(BRWD3):c.2233G>A (p.Val745Ile) | not provided [RCV003457610] | uncertain significance | X | 80716249 | 80716249 | Human | | name |
| 405053886 | CV2890102 | single nucleotide variant | NM_153252.5(BRWD3):c.2779T>A (p.Trp927Arg) | not provided [RCV003579991] | uncertain significance | X | 80703536 | 80703536 | Human | | name |
| 405119266 | CV2891471 | single nucleotide variant | NM_153252.5(BRWD3):c.1085C>T (p.Thr362Met) | not provided [RCV003558884] | uncertain significance | X | 80734119 | 80734119 | Human | | name |
| 405184365 | CV2920434 | duplication | NM_153252.5(BRWD3):c.4288dup (p.Ile1430fs) | not provided [RCV003564312] | pathogenic | X | 80682573 | 80682574 | Human | | name |
| 405135877 | CV2958113 | single nucleotide variant | NM_153252.5(BRWD3):c.2314A>G (p.Thr772Ala) | not provided [RCV003672812] | benign | X | 80716168 | 80716168 | Human | | name |
| 404985447 | CV2979855 | single nucleotide variant | NM_153252.5(BRWD3):c.1467C>G (p.Asn489Lys) | not provided [RCV003691777] | uncertain significance | X | 80724987 | 80724987 | Human | | name |
| 404978733 | CV3013111 | single nucleotide variant | NM_153252.5(BRWD3):c.1888G>A (p.Val630Ile) | not provided [RCV003690843] | uncertain significance | X | 80719645 | 80719645 | Human | | name |
| 405045798 | CV3017809 | single nucleotide variant | NM_153252.5(BRWD3):c.1340T>G (p.Leu447Trp) | not provided [RCV003696646] | uncertain significance | X | 80728798 | 80728798 | Human | | name |
| 405063135 | CV3020615 | single nucleotide variant | NM_153252.5(BRWD3):c.2675A>G (p.Lys892Arg) | not provided [RCV003697832] | uncertain significance | X | 80704724 | 80704724 | Human | | name |
| 405176355 | CV3023774 | deletion | NM_153252.5(BRWD3):c.3448del (p.Val1150fs) | not provided [RCV003705126] | pathogenic | X | 80691856 | 80691856 | Human | | name |
| 405069536 | CV3031085 | single nucleotide variant | NM_153252.5(BRWD3):c.1397A>G (p.Asp466Gly) | not provided [RCV003698235] | uncertain significance | X | 80725057 | 80725057 | Human | | name |
| 405088721 | CV3044586 | single nucleotide variant | NM_153252.5(BRWD3):c.2535A>T (p.Gln845His) | Inborn genetic diseases [RCV004963784]|not provided [RCV003717663] | uncertain significance | X | 80707444 | 80707444 | Human | 1 | name |
| 405130105 | CV3050946 | single nucleotide variant | NM_153252.5(BRWD3):c.2740A>G (p.Ile914Val) | not provided [RCV003724750] | uncertain significance | X | 80703575 | 80703575 | Human | | name |
| 404992485 | CV3132381 | single nucleotide variant | NM_153252.5(BRWD3):c.2150G>A (p.Arg717Gln) | not provided [RCV003827319] | benign | X | 80717654 | 80717654 | Human | | name |
| 405036397 | CV3140554 | single nucleotide variant | NM_153252.5(BRWD3):c.1706A>G (p.Asn569Ser) | not provided [RCV003831036] | uncertain significance | X | 80722732 | 80722732 | Human | | name |
| 405133636 | CV3163911 | single nucleotide variant | NM_153252.5(BRWD3):c.2315C>G (p.Thr772Ser) | not provided [RCV003854899] | uncertain significance | X | 80716167 | 80716167 | Human | | name |
| 405091567 | CV3167938 | single nucleotide variant | NM_153252.5(BRWD3):c.1408G>A (p.Val470Ile) | not provided [RCV003852328] | benign | X | 80725046 | 80725046 | Human | | name |
| 405261205 | CV3186104 | single nucleotide variant | NM_153252.5(BRWD3):c.2464A>G (p.Ser822Gly) | Inborn genetic diseases [RCV004968557]|not provided [RCV003885180] | uncertain significance | X | 80709439 | 80709439 | Human | 1 | name |
| 405261762 | CV3219894 | single nucleotide variant | NM_153252.5(BRWD3):c.2296A>G (p.Lys766Glu) | BRWD3-related disorder [RCV004540758] | uncertain significance | X | 80716186 | 80716186 | Human | | name , trait , alternate_id |
| 405709014 | CV3298348 | single nucleotide variant | NM_153252.5(BRWD3):c.1663A>G (p.Met555Val) | Inborn genetic diseases [RCV004426518] | uncertain significance | X | 80722775 | 80722775 | Human | 1 | name |
| 405709021 | CV3298349 | single nucleotide variant | NM_153252.5(BRWD3):c.1834A>G (p.Lys612Glu) | Inborn genetic diseases [RCV004426519] | uncertain significance | X | 80722604 | 80722604 | Human | 1 | name |
| 405709028 | CV3298350 | single nucleotide variant | NM_153252.5(BRWD3):c.2311T>C (p.Tyr771His) | Inborn genetic diseases [RCV004426520] | uncertain significance | X | 80716171 | 80716171 | Human | 1 | name |
| 405709033 | CV3298351 | single nucleotide variant | NM_153252.5(BRWD3):c.2339C>A (p.Pro780His) | Inborn genetic diseases [RCV004426521] | uncertain significance | X | 80709564 | 80709564 | Human | 1 | name |
| 407457223 | CV3416082 | single nucleotide variant | NM_153252.5(BRWD3):c.2415T>A (p.His805Gln) | not provided [RCV004598959] | uncertain significance | X | 80709488 | 80709488 | Human | | name |
| 408373209 | CV3502216 | single nucleotide variant | NM_153252.5(BRWD3):c.2654G>T (p.Ser885Ile) | not provided [RCV004725803] | uncertain significance | X | 80704745 | 80704745 | Human | | name |
| 408368630 | CV3514476 | single nucleotide variant | NM_153252.5(BRWD3):c.2830G>A (p.Asp944Asn) | BRWD3-related disorder [RCV004735369] | uncertain significance | X | 80703485 | 80703485 | Human | | name , trait , alternate_id |
| 408394669 | CV3518350 | duplication | NM_153252.5(BRWD3):c.4888dup (p.Arg1630fs) | Intellectual disability, X-linked 93 [RCV004759673] | uncertain significance | X | 80677129 | 80677130 | Human | 1 | name |
| 408385476 | CV3520192 | single nucleotide variant | NM_153252.5(BRWD3):c.1298G>A (p.Arg433His) | not provided [RCV004760013] | uncertain significance | X | 80728840 | 80728840 | Human | | name |
| 408388093 | CV3520636 | single nucleotide variant | NM_153252.5(BRWD3):c.2624C>T (p.Thr875Ile) | not provided [RCV004761469] | uncertain significance | X | 80704775 | 80704775 | Human | | name |
| 408391095 | CV3521092 | single nucleotide variant | NM_153252.5(BRWD3):c.1300T>A (p.Tyr434Asn) | not provided [RCV004762914] | uncertain significance | X | 80728838 | 80728838 | Human | | name |
| 408392837 | CV3525370 | single nucleotide variant | NM_153252.5(BRWD3):c.2050A>G (p.Arg684Gly) | not provided [RCV004771256] | uncertain significance | X | 80717754 | 80717754 | Human | | name |
| 408386149 | CV3528807 | single nucleotide variant | NM_153252.5(BRWD3):c.2212C>A (p.Leu738Ile) | not provided [RCV004772640] | uncertain significance | X | 80717592 | 80717592 | Human | | name |
| 408386406 | CV3528910 | single nucleotide variant | NM_153252.5(BRWD3):c.2194A>G (p.Arg732Gly) | not provided [RCV004772743] | uncertain significance | X | 80717610 | 80717610 | Human | | name |
| 408389360 | CV3529351 | single nucleotide variant | NM_153252.5(BRWD3):c.2540A>G (p.Glu847Gly) | not provided [RCV004774173] | uncertain significance | X | 80707439 | 80707439 | Human | | name |
| 596926066 | CV3530684 | single nucleotide variant | NM_153252.5(BRWD3):c.1609T>A (p.Leu537Met) | not provided [RCV004778269] | uncertain significance | X | 80723789 | 80723789 | Human | | name |
| 596929215 | CV3531011 | single nucleotide variant | NM_153252.5(BRWD3):c.2669A>C (p.Asn890Thr) | not provided [RCV004779585] | uncertain significance | X | 80704730 | 80704730 | Human | | name |
| 596931188 | CV3531521 | single nucleotide variant | NM_153252.5(BRWD3):c.1581T>G (p.His527Gln) | not provided [RCV004781083] | uncertain significance | X | 80723817 | 80723817 | Human | | name |
| 596921919 | CV3535548 | single nucleotide variant | NM_153252.5(BRWD3):c.2803C>T (p.Arg935Cys) | Intellectual disability, X-linked 93 [RCV004785103] | uncertain significance | X | 80703512 | 80703512 | Human | 1 | name |
| 596927205 | CV3536521 | single nucleotide variant | NM_153252.5(BRWD3):c.2473G>T (p.Glu825Ter) | Intellectual disability, X-linked 93 [RCV004789930] | pathogenic | X | 80709430 | 80709430 | Human | 1 | name |
| 596943937 | CV3543049 | single nucleotide variant | NM_153252.5(BRWD3):c.1519A>G (p.Met507Val) | not provided [RCV004798634] | uncertain significance | X | 80724935 | 80724935 | Human | | name |
| 596944928 | CV3543582 | single nucleotide variant | NM_153252.5(BRWD3):c.2555A>T (p.Asp852Val) | not provided [RCV004801704] | uncertain significance | X | 80704844 | 80704844 | Human | | name |
| 597630981 | CV3552519 | deletion | NM_153252.5(BRWD3):c.4186del (p.Gln1396fs) | Intellectual disability, X-linked 93 [RCV004823272] | likely pathogenic | X | 80684057 | 80684057 | Human | 1 | name |
| 597637421 | CV3637308 | single nucleotide variant | NM_153252.5(BRWD3):c.2251A>G (p.Thr751Ala) | Inborn genetic diseases [RCV004970196] | uncertain significance | X | 80716231 | 80716231 | Human | 1 | name |
| 597660486 | CV3731829 | single nucleotide variant | NM_153252.5(BRWD3):c.1150C>T (p.Arg384Ter) | Intellectual disability, X-linked 93 [RCV005002049] | likely pathogenic | X | 80729998 | 80729998 | Human | 1 | name |
| 597843261 | CV3735878 | single nucleotide variant | NM_153252.5(BRWD3):c.2554G>A (p.Asp852Asn) | not provided [RCV005065227] | uncertain significance | X | 80704845 | 80704845 | Human | | name |
| 597920491 | CV3765128 | single nucleotide variant | NM_153252.5(BRWD3):c.2441C>T (p.Ser814Leu) | not provided [RCV005115145] | uncertain significance | X | 80709462 | 80709462 | Human | | name |
| 597871671 | CV3768372 | single nucleotide variant | NM_153252.5(BRWD3):c.2254G>A (p.Ala752Thr) | not provided [RCV005122751] | uncertain significance | X | 80716228 | 80716228 | Human | | name |
| 597925228 | CV3772643 | single nucleotide variant | NM_153252.5(BRWD3):c.2248C>T (p.Arg750Ter) | not provided [RCV005115793] | pathogenic | X | 80716234 | 80716234 | Human | | name |
| 597906786 | CV3781385 | single nucleotide variant | NM_153252.5(BRWD3):c.2814T>A (p.Phe938Leu) | not provided [RCV005128073] | benign | X | 80703501 | 80703501 | Human | | name |
| 597899736 | CV3782927 | single nucleotide variant | NM_153252.5(BRWD3):c.1658A>T (p.Asp553Val) | not provided [RCV005126947] | uncertain significance | X | 80722780 | 80722780 | Human | | name |
| 597894673 | CV3785627 | single nucleotide variant | NM_153252.5(BRWD3):c.2150G>T (p.Arg717Leu) | not provided [RCV005126213] | uncertain significance | X | 80717654 | 80717654 | Human | | name |
| 597972409 | CV3790263 | single nucleotide variant | NM_153252.5(BRWD3):c.1228A>G (p.Thr410Ala) | not provided [RCV005142686] | uncertain significance | X | 80729920 | 80729920 | Human | | name |
| 12833181 | CV379476 | single nucleotide variant | NM_153252.5(BRWD3):c.2327A>T (p.Asn776Ile) | not provided [RCV000418033] | uncertain significance | X | 80709576 | 80709576 | Human | | name |
| 12846884 | CV379480 | single nucleotide variant | NM_153252.5(BRWD3):c.1808G>A (p.Arg603Gln) | not provided [RCV000442499] | uncertain significance | X | 80722630 | 80722630 | Human | | name |
| 597961836 | CV3795277 | single nucleotide variant | NM_153252.5(BRWD3):c.1421A>G (p.His474Arg) | not provided [RCV005138969] | uncertain significance | X | 80725033 | 80725033 | Human | | name |
| 12839541 | CV379553 | single nucleotide variant | NM_153252.5(BRWD3):c.1792C>G (p.Pro598Ala) | not provided [RCV000429005] | uncertain significance | X | 80722646 | 80722646 | Human | | name |
| 12838712 | CV379556 | single nucleotide variant | NM_153252.5(BRWD3):c.1645G>A (p.Glu549Lys) | not provided [RCV000427455] | uncertain significance | X | 80723753 | 80723753 | Human | | name |
| 597958756 | CV3797361 | single nucleotide variant | NM_153252.5(BRWD3):c.2501A>T (p.Asp834Val) | not provided [RCV005138048] | uncertain significance | X | 80707478 | 80707478 | Human | | name |
| 597956808 | CV3800304 | single nucleotide variant | NM_153252.5(BRWD3):c.2407A>G (p.Ile803Val) | not provided [RCV005137396] | uncertain significance | X | 80709496 | 80709496 | Human | | name |
| 597857957 | CV3822339 | single nucleotide variant | NM_153252.5(BRWD3):c.2273T>C (p.Ile758Thr) | not provided [RCV005174637] | uncertain significance | X | 80716209 | 80716209 | Human | | name |
| 597915629 | CV3845632 | single nucleotide variant | NM_153252.5(BRWD3):c.2463C>G (p.Asp821Glu) | not provided [RCV005183427] | uncertain significance | X | 80709440 | 80709440 | Human | | name |
| 598126281 | CV3886179 | single nucleotide variant | NM_153252.5(BRWD3):c.1577A>C (p.Asn526Thr) | not provided [RCV005241982] | uncertain significance | X | 80723821 | 80723821 | Human | | name |
| 598127756 | CV3888314 | single nucleotide variant | NM_153252.5(BRWD3):c.2147C>T (p.Pro716Leu) | not provided [RCV005243000] | uncertain significance | X | 80717657 | 80717657 | Human | | name |
| 598202411 | CV3892837 | single nucleotide variant | NM_153252.5(BRWD3):c.1563T>G (p.Phe521Leu) | not provided [RCV005255167] | uncertain significance | X | 80723835 | 80723835 | Human | | name |
| 598236330 | CV3893489 | single nucleotide variant | NM_153252.5(BRWD3):c.2777A>C (p.Gln926Pro) | not provided [RCV005256222] | uncertain significance | X | 80703538 | 80703538 | Human | | name |
| 598174743 | CV3939091 | single nucleotide variant | NM_153252.5(BRWD3):c.2009A>G (p.His670Arg) | Inborn genetic diseases [RCV005309756] | uncertain significance | X | 80719524 | 80719524 | Human | 1 | name |
| 598174746 | CV3939092 | single nucleotide variant | NM_153252.5(BRWD3):c.2696A>G (p.Lys899Arg) | Inborn genetic diseases [RCV005309757] | uncertain significance | X | 80704703 | 80704703 | Human | 1 | name |
| 598174751 | CV3939093 | single nucleotide variant | NM_153252.5(BRWD3):c.1490G>C (p.Arg497Pro) | Inborn genetic diseases [RCV005309758] | uncertain significance | X | 80724964 | 80724964 | Human | 1 | name |
| 616939383 | CV4015714 | single nucleotide variant | NM_153252.5(BRWD3):c.2221G>A (p.Gly741Arg) | Intellectual disability, X-linked 93 [RCV005413226] | uncertain significance | X | 80717583 | 80717583 | Human | 1 | name |
| 616935874 | CV4015949 | single nucleotide variant | NM_153252.5(BRWD3):c.2035G>A (p.Val679Ile) | not provided [RCV005414813] | uncertain significance | X | 80719498 | 80719498 | Human | | name |
| 617150952 | CV4021953 | single nucleotide variant | NM_153252.5(BRWD3):c.2932A>G (p.Met978Val) | not provided [RCV005426914] | uncertain significance | X | 80699968 | 80699968 | Human | | name |
| 12902390 | CV411500 | single nucleotide variant | NM_153252.5(BRWD3):c.1633A>G (p.Ser545Gly) | not provided [RCV000486984] | uncertain significance | X | 80723765 | 80723765 | Human | | name |
| 13211340 | CV426496 | single nucleotide variant | NM_153252.5(BRWD3):c.2535A>C (p.Gln845His) | not provided [RCV000497311] | uncertain significance | X | 80707444 | 80707444 | Human | | name |
| 13215741 | CV430947 | single nucleotide variant | NM_153252.5(BRWD3):c.1300T>C (p.Tyr434His) | Inborn genetic diseases [RCV000623943]|not provided [RCV005091086]|not specified [RCV000502884] | benign|likely benign|uncertain significance | X | 80728838 | 80728838 | Human | 1 | name |
| 13488423 | CV446794 | single nucleotide variant | NM_153252.5(BRWD3):c.2551A>G (p.Ser851Gly) | not provided [RCV000523558] | uncertain significance | X | 80707428 | 80707428 | Human | | name |
| 13830792 | CV581012 | single nucleotide variant | NM_153252.5(BRWD3):c.2729G>C (p.Gly910Ala) | Inborn genetic diseases [RCV002318869]|not provided [RCV000922929] | benign | X | 80703586 | 80703586 | Human | 1 | name |
| 13829061 | CV581015 | single nucleotide variant | NM_153252.5(BRWD3):c.2300A>C (p.Lys767Thr) | Inborn genetic diseases [RCV002314478] | uncertain significance | X | 80716182 | 80716182 | Human | 1 | name |
| 13829911 | CV581198 | single nucleotide variant | NM_153252.5(BRWD3):c.1505G>A (p.Arg502Gln) | History of neurodevelopmental disorder [RCV000719144]|not provided [RCV003225116] | uncertain significance | X | 80724949 | 80724949 | Human | | name |
| 13836901 | CV588184 | single nucleotide variant | NM_153252.5(BRWD3):c.1858C>A (p.Leu620Met) | not provided [RCV000733148] | uncertain significance | X | 80722580 | 80722580 | Human | | name |
| 14981534 | CV613548 | deletion | NM_153252.5(BRWD3):c.3791del (p.Ser1264fs) | Intellectual disability [RCV000850218] | pathogenic | X | 80689784 | 80689784 | Human | 2 | name |
| 14746761 | CV672121 | single nucleotide variant | NM_153252.5(BRWD3):c.2878G>A (p.Val960Ile) | BRWD3-related disorder [RCV000844959]|not provided [RCV001759635] | uncertain significance|not provided | X | 80700022 | 80700022 | Human | 1 | name , trait , alternate_id |
| 21073761 | CV792513 | single nucleotide variant | NM_153252.5(BRWD3):c.1690C>T (p.Leu564Phe) | Intellectual disability, X-linked 93 [RCV000990890] | likely pathogenic|uncertain significance | X | 80722748 | 80722748 | Human | 1 | name |
| 21075145 | CV798416 | single nucleotide variant | NM_153252.5(BRWD3):c.1919A>G (p.Asn640Ser) | not provided [RCV000995979] | uncertain significance | X | 80719614 | 80719614 | Human | | name |
| 28876501 | CV903244 | single nucleotide variant | NM_153252.5(BRWD3):c.2026G>A (p.Ala676Thr) | Intellectual disability, X-linked 93 [RCV001166163] | uncertain significance | X | 80719507 | 80719507 | Human | 1 | name |
| 28876505 | CV903245 | single nucleotide variant | NM_153252.5(BRWD3):c.1384T>C (p.Ser462Pro) | Intellectual disability, X-linked 93 [RCV001166164]|not provided [RCV002558621] | likely benign|uncertain significance | X | 80728754 | 80728754 | Human | 1 | name |
| 38596409 | CV964007 | single nucleotide variant | NM_153252.5(BRWD3):c.2377C>T (p.Arg793Cys) | Intellectual disability [RCV001251697]|not provided [RCV003669215] | likely benign|uncertain significance | X | 80709526 | 80709526 | Human | 2 | name |
| 40903444 | CV977312 | single nucleotide variant | NM_153252.5(BRWD3):c.1118A>G (p.Asn373Ser) | BRWD3-related X-linked syndromic intellectual disability [RCV001270718] | uncertain significance | X | 80733465 | 80733465 | Human | | name , trait |
| 126744568 | CV1019087 | single nucleotide variant | NM_153252.5(BRWD3):c.4705A>G (p.Thr1569Ala) | Intellectual disability, X-linked 93 [RCV001330466]|not provided [RCV001751644] | uncertain significance | X | 80677313 | 80677313 | Human | 1 | name |
| 126744564 | CV1019088 | single nucleotide variant | NM_153252.5(BRWD3):c.4138G>A (p.Glu1380Lys) | Intellectual disability, X-linked 93 [RCV001330465] | uncertain significance | X | 80684105 | 80684105 | Human | 1 | name |
| 150332916 | CV1164613 | single nucleotide variant | NM_153252.5(BRWD3):c.4339C>T (p.Arg1447Trp) | not provided [RCV001528547] | uncertain significance | X | 80682523 | 80682523 | Human | | name |
| 150336106 | CV1166493 | single nucleotide variant | NM_153252.5(BRWD3):c.4786A>C (p.Lys1596Gln) | not provided [RCV001531794] | uncertain significance | X | 80677232 | 80677232 | Human | | name |
| 150425022 | CV1185865 | single nucleotide variant | NM_153252.5(BRWD3):c.5173C>T (p.Arg1725Ter) | not provided [RCV001557451] | likely pathogenic | X | 80676845 | 80676845 | Human | | name |
| 150425124 | CV1185866 | single nucleotide variant | NM_153252.5(BRWD3):c.5081G>A (p.Arg1694Gln) | not provided [RCV001557594] | uncertain significance | X | 80676937 | 80676937 | Human | | name |
| 150521340 | CV1289060 | single nucleotide variant | NM_153252.5(BRWD3):c.5273T>C (p.Leu1758Ser) | not provided [RCV001725824] | uncertain significance | X | 80676745 | 80676745 | Human | | name |
| 150533253 | CV1294143 | single nucleotide variant | NM_153252.5(BRWD3):c.4955G>C (p.Arg1652Thr) | not provided [RCV001758161] | uncertain significance | X | 80677063 | 80677063 | Human | | name |
| 150556123 | CV1297986 | single nucleotide variant | NM_153252.5(BRWD3):c.3557C>G (p.Thr1186Ser) | not provided [RCV001773950] | uncertain significance | X | 80691098 | 80691098 | Human | | name |
| 150541062 | CV1298653 | single nucleotide variant | NM_153252.5(BRWD3):c.5078G>T (p.Gly1693Val) | not provided [RCV001760801] | uncertain significance | X | 80676940 | 80676940 | Human | | name |
| 150556524 | CV1303217 | single nucleotide variant | NM_153252.5(BRWD3):c.4345A>G (p.Arg1449Gly) | Inborn genetic diseases [RCV003346685]|not provided [RCV001774410] | uncertain significance | X | 80682517 | 80682517 | Human | 1 | name |
| 150553586 | CV1303595 | single nucleotide variant | NM_153252.5(BRWD3):c.3397C>T (p.Pro1133Ser) | not provided [RCV001769285] | uncertain significance | X | 80691907 | 80691907 | Human | | name |
| 150547998 | CV1303968 | single nucleotide variant | NM_153252.5(BRWD3):c.3083C>T (p.Pro1028Leu) | not provided [RCV001764071] | uncertain significance | X | 80695976 | 80695976 | Human | | name |
| 150555828 | CV1305314 | single nucleotide variant | NM_153252.5(BRWD3):c.3873C>G (p.Cys1291Trp) | not provided [RCV001773247] | uncertain significance | X | 80686995 | 80686995 | Human | | name |
| 150555838 | CV1305327 | single nucleotide variant | NM_153252.5(BRWD3):c.5208G>C (p.Met1736Ile) | not provided [RCV001773260] | uncertain significance | X | 80676810 | 80676810 | Human | | name |
| 150544017 | CV1310066 | single nucleotide variant | NM_153252.5(BRWD3):c.4228T>G (p.Ser1410Ala) | not provided [RCV003238070] | likely pathogenic | X | 80684015 | 80684015 | Human | | name |
| 150544033 | CV1310073 | single nucleotide variant | NM_153252.5(BRWD3):c.3232C>A (p.Pro1078Thr) | not provided [RCV003238075] | uncertain significance | X | 80692971 | 80692971 | Human | | name |
| 151235431 | CV1318745 | single nucleotide variant | NM_153252.5(BRWD3):c.3730G>C (p.Asp1244His) | Intellectual disability, X-linked 93 [RCV001795563] | uncertain significance | X | 80689845 | 80689845 | Human | 1 | name |
| 151352275 | CV1322361 | single nucleotide variant | NM_153252.5(BRWD3):c.4645G>A (p.Val1549Ile) | not provided [RCV001806985] | uncertain significance | X | 80681350 | 80681350 | Human | | name |
| 151755856 | CV1334841 | single nucleotide variant | NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter) | Intellectual disability, X-linked 93 [RCV001843797] | likely pathogenic | X | 80686975 | 80686975 | Human | 1 | name |
| 151864307 | CV1336814 | single nucleotide variant | NM_153252.5(BRWD3):c.4211A>G (p.Tyr1404Cys) | not provided [RCV002034852] | uncertain significance | X | 80684032 | 80684032 | Human | | name |
| 151741988 | CV1386767 | single nucleotide variant | NM_153252.5(BRWD3):c.4635A>T (p.Arg1545Ser) | not provided [RCV001893355] | conflicting interpretations of pathogenicity|uncertain significance | X | 80681360 | 80681360 | Human | | name |
| 151730573 | CV1517812 | single nucleotide variant | NM_153252.5(BRWD3):c.3976C>T (p.Arg1326Ter) | Intellectual disability, X-linked 93 [RCV002052427] | pathogenic | X | 80686892 | 80686892 | Human | 1 | name |
| 151730578 | CV1517813 | single nucleotide variant | NM_153252.5(BRWD3):c.3413G>T (p.Trp1138Leu) | Intellectual disability, X-linked 93 [RCV002052428] | pathogenic | X | 80691891 | 80691891 | Human | 1 | name |
| 153304183 | CV1690644 | single nucleotide variant | NM_153252.5(BRWD3):c.3591T>A (p.Asn1197Lys) | not provided [RCV002269688] | uncertain significance | X | 80691064 | 80691064 | Human | | name |
| 155267196 | CV1699479 | single nucleotide variant | NM_153252.5(BRWD3):c.3146A>G (p.Gln1049Arg) | not provided [RCV002283274] | uncertain significance | X | 80695913 | 80695913 | Human | | name |
| 155641819 | CV1707145 | single nucleotide variant | NM_153252.5(BRWD3):c.5233C>T (p.Pro1745Ser) | not provided [RCV002288075] | uncertain significance | X | 80676785 | 80676785 | Human | | name |
| 155747052 | CV1778202 | single nucleotide variant | NM_153252.5(BRWD3):c.3965C>G (p.Ser1322Trp) | not provided [RCV002303559] | uncertain significance | X | 80686903 | 80686903 | Human | | name |
| 155715790 | CV1780423 | single nucleotide variant | NM_153252.5(BRWD3):c.4472C>G (p.Thr1491Ser) | not provided [RCV002306028] | uncertain significance | X | 80682020 | 80682020 | Human | | name |
| 155733881 | CV1788105 | single nucleotide variant | NM_153252.5(BRWD3):c.4253G>A (p.Arg1418Gln) | Inborn genetic diseases [RCV002329883] | uncertain significance | X | 80682609 | 80682609 | Human | 1 | name |
| 155683246 | CV1792410 | single nucleotide variant | NM_153252.5(BRWD3):c.3445C>T (p.Arg1149Trp) | Inborn genetic diseases [RCV002457157]|not provided [RCV005254064] | uncertain significance | X | 80691859 | 80691859 | Human | 1 | name |
| 155730319 | CV1796094 | single nucleotide variant | NM_153252.5(BRWD3):c.3596T>A (p.Phe1199Tyr) | Inborn genetic diseases [RCV002339847] | uncertain significance | X | 80691059 | 80691059 | Human | 1 | name |
| 155738164 | CV1805038 | single nucleotide variant | NM_153252.5(BRWD3):c.4576G>T (p.Gly1526Ter) | Inborn genetic diseases [RCV002342162] | pathogenic | X | 80681419 | 80681419 | Human | 1 | name |
| 155738335 | CV1805116 | single nucleotide variant | NM_153252.5(BRWD3):c.4586G>A (p.Arg1529Gln) | Inborn genetic diseases [RCV002342240]|Intellectual disability, X-linked 93 [RCV003146544]|not provided [RCV005096602] | benign|uncertain significance | X | 80681409 | 80681409 | Human | 2 | name |
| 155803794 | CV1858360 | single nucleotide variant | NM_153252.5(BRWD3):c.4631A>G (p.Asn1544Ser) | not provided [RCV002462670] | uncertain significance | X | 80681364 | 80681364 | Human | | name |
| 155798214 | CV1863506 | single nucleotide variant | NM_153252.5(BRWD3):c.3605G>T (p.Arg1202Ile) | not provided [RCV002473401] | likely pathogenic|uncertain significance | X | 80690090 | 80690090 | Human | | name |
| 156050040 | CV1867661 | single nucleotide variant | NM_153252.5(BRWD3):c.4208C>T (p.Ala1403Val) | not provided [RCV002510133] | uncertain significance | X | 80684035 | 80684035 | Human | | name |
| 156390839 | CV1869902 | single nucleotide variant | NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly) | Intellectual disability, X-linked 93 [RCV003985112]|not provided [RCV003067998]|not specified [RCV003155509] | benign|uncertain significance | X | 80682478 | 80682478 | Human | 1 | name |
| 156407503 | CV1918144 | single nucleotide variant | NM_153252.5(BRWD3):c.3761A>T (p.Tyr1254Phe) | not provided [RCV002606913] | likely benign | X | 80689814 | 80689814 | Human | | name |
| 155945891 | CV1935621 | single nucleotide variant | NM_153252.5(BRWD3):c.3899G>A (p.Cys1300Tyr) | not provided [RCV002511369] | uncertain significance | X | 80686969 | 80686969 | Human | | name |
| 156394596 | CV1983671 | single nucleotide variant | NM_153252.5(BRWD3):c.4553C>A (p.Pro1518Gln) | not provided [RCV002605017] | benign | X | 80681442 | 80681442 | Human | | name |
| 156254513 | CV2003658 | single nucleotide variant | NM_153252.5(BRWD3):c.4234A>C (p.Ile1412Leu) | Inborn genetic diseases [RCV002653067]|not provided [RCV002627561] | benign|likely benign | X | 80682628 | 80682628 | Human | 1 | name |
| 156223487 | CV2080500 | single nucleotide variant | NM_153252.5(BRWD3):c.3397C>A (p.Pro1133Thr) | not provided [RCV002875961] | likely benign | X | 80691907 | 80691907 | Human | | name |
| 10404515 | CV209301 | single nucleotide variant | NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg) | Inborn genetic diseases [RCV002345688]|Intellectual disability [RCV001251698]|Intellectual disability, X-linked 93 [RCV000599839]|not provided [RCV001701635]|not specified [RCV000195263] | likely pathogenic|likely benign|uncertain significance | X | 80676917 | 80676917 | Human | 4 | name |
| 10406579 | CV209303 | single nucleotide variant | NM_153252.5(BRWD3):c.3541G>A (p.Val1181Ile) | not specified [RCV000193229] | uncertain significance | X | 80691114 | 80691114 | Human | | name |
| 156355014 | CV2129822 | single nucleotide variant | NM_153252.5(BRWD3):c.3007T>G (p.Leu1003Val) | Inborn genetic diseases [RCV002966589]|not provided [RCV002966588] | uncertain significance | X | 80696800 | 80696800 | Human | 1 | name |
| 156014430 | CV2133993 | single nucleotide variant | NM_153252.5(BRWD3):c.4214C>A (p.Thr1405Asn) | not provided [RCV003017918] | uncertain significance | X | 80684029 | 80684029 | Human | | name |
| 10405918 | CV213673 | single nucleotide variant | NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val) | Intellectual disability, X-linked 93 [RCV000199586]|not specified [RCV003235122] | likely pathogenic|uncertain significance | X | 80682607 | 80682607 | Human | 1 | name |
| 156143597 | CV2163968 | single nucleotide variant | NM_153252.5(BRWD3):c.3553C>T (p.Pro1185Ser) | not provided [RCV003022608] | uncertain significance | X | 80691102 | 80691102 | Human | | name |
| 156228215 | CV2212947 | single nucleotide variant | NM_153252.5(BRWD3):c.4123G>A (p.Val1375Met) | Inborn genetic diseases [RCV002712580] | uncertain significance | X | 80684120 | 80684120 | Human | 1 | name |
| 156359564 | CV2257779 | single nucleotide variant | NM_153252.5(BRWD3):c.4102A>T (p.Thr1368Ser) | Inborn genetic diseases [RCV002812610] | uncertain significance | X | 80684141 | 80684141 | Human | 1 | name |
| 155904943 | CV2285747 | single nucleotide variant | NM_153252.5(BRWD3):c.4791G>T (p.Glu1597Asp) | Inborn genetic diseases [RCV002837069] | uncertain significance | X | 80677227 | 80677227 | Human | 1 | name |
| 155906425 | CV2357321 | single nucleotide variant | NM_153252.5(BRWD3):c.3875G>A (p.Arg1292Gln) | Inborn genetic diseases [RCV002990556] | likely benign | X | 80686993 | 80686993 | Human | 1 | name |
| 156305037 | CV2369308 | single nucleotide variant | NM_153252.5(BRWD3):c.3578G>A (p.Arg1193Gln) | Inborn genetic diseases [RCV003010635]|not provided [RCV003565607] | benign|likely benign | X | 80691077 | 80691077 | Human | 1 | name |
| 11350953 | CV237187 | single nucleotide variant | NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter) | Intellectual disability, X-linked 93 [RCV001814124]|not provided [RCV000224684] | pathogenic|likely pathogenic | X | 80689977 | 80689977 | Human | 1 | name |
| 156440140 | CV2401825 | single nucleotide variant | NM_153252.5(BRWD3):c.4502A>T (p.Asp1501Val) | not provided [RCV003110113] | uncertain significance | X | 80681493 | 80681493 | Human | | name |
| 156434517 | CV2402978 | single nucleotide variant | NM_153252.5(BRWD3):c.4823A>G (p.Glu1608Gly) | not provided [RCV003126406] | uncertain significance | X | 80677195 | 80677195 | Human | | name |
| 156435406 | CV2403545 | single nucleotide variant | NM_153252.5(BRWD3):c.4510G>A (p.Glu1504Lys) | Autism spectrum disorder [RCV003128007] | uncertain significance | X | 80681485 | 80681485 | Human | 2 | name |
| 243052370 | CV2404368 | single nucleotide variant | NM_153252.5(BRWD3):c.3053A>C (p.Glu1018Ala) | not provided [RCV003129394] | uncertain significance | X | 80696754 | 80696754 | Human | | name |
| 243064959 | CV2409550 | single nucleotide variant | NM_153252.5(BRWD3):c.4025G>A (p.Gly1342Glu) | Intellectual disability, X-linked 93 [RCV003143822] | uncertain significance | X | 80685517 | 80685517 | Human | 1 | name |
| 243064960 | CV2409551 | single nucleotide variant | NM_153252.5(BRWD3):c.5206A>T (p.Met1736Leu) | Intellectual disability, X-linked 93 [RCV003143823] | uncertain significance | X | 80676812 | 80676812 | Human | 1 | name |
| 243064963 | CV2409554 | single nucleotide variant | NM_153252.5(BRWD3):c.4784C>T (p.Thr1595Ile) | Intellectual disability, X-linked 93 [RCV003143826] | uncertain significance | X | 80677234 | 80677234 | Human | 1 | name |
| 243064964 | CV2409555 | single nucleotide variant | NM_153252.5(BRWD3):c.3119A>G (p.Tyr1040Cys) | Intellectual disability, X-linked 93 [RCV003143827] | uncertain significance | X | 80695940 | 80695940 | Human | 1 | name |
| 243050112 | CV2415374 | single nucleotide variant | NM_153252.5(BRWD3):c.3724A>G (p.Ile1242Val) | Inborn genetic diseases [RCV003164866]|Intellectual disability, X-linked 93 [RCV003147889] | uncertain significance | X | 80689971 | 80689971 | Human | 2 | name |
| 243049837 | CV2417207 | single nucleotide variant | NM_153252.5(BRWD3):c.3171A>G (p.Ile1057Met) | not provided [RCV003152078] | uncertain significance | X | 80693032 | 80693032 | Human | | name |
| 329350628 | CV2421753 | single nucleotide variant | NM_153252.5(BRWD3):c.4798C>G (p.His1600Asp) | not provided [RCV003159456] | uncertain significance | X | 80677220 | 80677220 | Human | | name |
| 329350571 | CV2477389 | single nucleotide variant | NM_153252.5(BRWD3):c.4004C>T (p.Pro1335Leu) | not provided [RCV003221714] | uncertain significance | X | 80686864 | 80686864 | Human | | name |
| 329847402 | CV2524238 | single nucleotide variant | NM_153252.5(BRWD3):c.3784C>T (p.Arg1262Ter) | not provided [RCV003227130] | likely pathogenic | X | 80689791 | 80689791 | Human | | name |
| 329847671 | CV2524419 | single nucleotide variant | NM_153252.5(BRWD3):c.4855T>C (p.Cys1619Arg) | not provided [RCV003227311] | uncertain significance | X | 80677163 | 80677163 | Human | | name |
| 8561925 | CV25843 | single nucleotide variant | NM_153252.5(BRWD3):c.4786A>G (p.Lys1596Glu) | Intellectual disability, X-linked 93 [RCV000011551] | pathogenic | X | 80677232 | 80677232 | Human | 1 | name |
| 11635938 | CV264927 | single nucleotide variant | NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr) | Inborn genetic diseases [RCV004021052]|not provided [RCV000727485] | conflicting interpretations of pathogenicity|uncertain significance | X | 80682553 | 80682553 | Human | 1 | name |
| 11642235 | CV265317 | single nucleotide variant | NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg) | Intellectual disability, X-linked 93 [RCV001553916]|not provided [RCV001668619]|not specified [RCV000371280] | benign | X | 80688070 | 80688070 | Human | 1 | name |
| 401737127 | CV2699679 | single nucleotide variant | NM_153252.5(BRWD3):c.4573G>A (p.Gly1525Ser) | Inborn genetic diseases [RCV003250204]|not provided [RCV004809990] | likely benign | X | 80681422 | 80681422 | Human | 1 | name |
| 401718702 | CV2704759 | single nucleotide variant | NM_153252.5(BRWD3):c.3607A>T (p.Ile1203Leu) | Inborn genetic diseases [RCV003266631] | uncertain significance | X | 80690088 | 80690088 | Human | 1 | name |
| 401741365 | CV2738817 | single nucleotide variant | NM_153252.5(BRWD3):c.5020G>A (p.Gly1674Ser) | not provided [RCV003318211] | uncertain significance | X | 80676998 | 80676998 | Human | | name |
| 401796866 | CV2739841 | single nucleotide variant | NM_153252.5(BRWD3):c.3799G>A (p.Ala1267Thr) | not provided [RCV003319802] | uncertain significance | X | 80689776 | 80689776 | Human | | name |
| 401799171 | CV2741748 | single nucleotide variant | NM_153252.5(BRWD3):c.3100C>T (p.Leu1034Phe) | not provided [RCV003323156] | uncertain significance | X | 80695959 | 80695959 | Human | | name |
| 401829548 | CV2747454 | single nucleotide variant | NM_153252.5(BRWD3):c.3413G>C (p.Trp1138Ser) | not provided [RCV003328919] | uncertain significance | X | 80691891 | 80691891 | Human | | name |
| 401870523 | CV2769281 | single nucleotide variant | NM_153252.5(BRWD3):c.4651C>G (p.Gln1551Glu) | Inborn genetic diseases [RCV003346164] | likely benign | X | 80681344 | 80681344 | Human | 1 | name |
| 401859221 | CV2771482 | single nucleotide variant | NM_153252.5(BRWD3):c.4546G>C (p.Asp1516His) | Inborn genetic diseases [RCV003357042] | likely benign | X | 80681449 | 80681449 | Human | 1 | name |
| 401915964 | CV2795351 | single nucleotide variant | NM_153252.5(BRWD3):c.3413G>A (p.Trp1138Ter) | Neurodevelopmental disorder [RCV003389186]|not provided [RCV004593283] | pathogenic|likely pathogenic | X | 80691891 | 80691891 | Human | 1 | name |
| 401938007 | CV2797382 | single nucleotide variant | NM_153252.5(BRWD3):c.3785G>A (p.Arg1262Gln) | BRWD3-related disorder [RCV004531689]|not provided [RCV005062898] | benign|uncertain significance | X | 80689790 | 80689790 | Human | 1 | name , trait , alternate_id |
| 401919443 | CV2798362 | single nucleotide variant | NM_153252.5(BRWD3):c.4432C>T (p.Pro1478Ser) | BRWD3-related disorder [RCV004527883]|not provided [RCV005061390] | uncertain significance | X | 80682060 | 80682060 | Human | 1 | name , trait , alternate_id |
| 401929071 | CV2826570 | single nucleotide variant | NM_153252.5(BRWD3):c.4702C>T (p.Arg1568Trp) | not provided [RCV003439709] | likely benign | X | 80677316 | 80677316 | Human | | name |
| 401929073 | CV2826571 | single nucleotide variant | NM_153252.5(BRWD3):c.4642C>G (p.Pro1548Ala) | not provided [RCV003439710] | uncertain significance | X | 80681353 | 80681353 | Human | | name |
| 401929080 | CV2826573 | single nucleotide variant | NM_153252.5(BRWD3):c.4340G>A (p.Arg1447Gln) | not provided [RCV003439712] | uncertain significance | X | 80682522 | 80682522 | Human | | name |
| 401916213 | CV2829425 | single nucleotide variant | NM_153252.5(BRWD3):c.3635A>G (p.Tyr1212Cys) | not provided [RCV003443274] | uncertain significance | X | 80690060 | 80690060 | Human | | name |
| 401912993 | CV2830137 | single nucleotide variant | NM_153252.5(BRWD3):c.4236C>G (p.Ile1412Met) | not provided [RCV003441352] | uncertain significance | X | 80682626 | 80682626 | Human | | name |
| 401913536 | CV2830442 | single nucleotide variant | NM_153252.5(BRWD3):c.4006G>C (p.Gly1336Arg) | not provided [RCV003441657] | uncertain significance | X | 80685536 | 80685536 | Human | | name |
| 401916243 | CV2831014 | single nucleotide variant | NM_153252.5(BRWD3):c.4693A>G (p.Arg1565Gly) | not provided [RCV003443283] | uncertain significance | X | 80677325 | 80677325 | Human | | name |
| 405869504 | CV2832023 | single nucleotide variant | NM_153252.5(BRWD3):c.3121A>C (p.Asn1041His) | not provided [RCV004573034] | uncertain significance | X | 80695938 | 80695938 | Human | | name |
| 405223666 | CV2919151 | single nucleotide variant | NM_153252.5(BRWD3):c.4310C>G (p.Ala1437Gly) | not provided [RCV003568808] | uncertain significance | X | 80682552 | 80682552 | Human | | name |
| 405227828 | CV2980548 | single nucleotide variant | NM_153252.5(BRWD3):c.3943C>T (p.Leu1315Phe) | not provided [RCV003711010] | uncertain significance | X | 80686925 | 80686925 | Human | | name |
| 402491371 | CV3011945 | single nucleotide variant | NM_153252.5(BRWD3):c.3583C>G (p.Leu1195Val) | not provided [RCV003687567] | uncertain significance | X | 80691072 | 80691072 | Human | | name |
| 405069383 | CV3030949 | single nucleotide variant | NM_153252.5(BRWD3):c.4286A>G (p.Asn1429Ser) | not provided [RCV003698146] | uncertain significance | X | 80682576 | 80682576 | Human | | name |
| 405114895 | CV3134079 | single nucleotide variant | NM_153252.5(BRWD3):c.3164G>A (p.Arg1055His) | not provided [RCV003836681] | likely benign | X | 80693039 | 80693039 | Human | | name |
| 405232645 | CV3144919 | single nucleotide variant | NM_153252.5(BRWD3):c.4907T>G (p.Val1636Gly) | not provided [RCV003853176] | uncertain significance | X | 80677111 | 80677111 | Human | | name |
| 402471154 | CV3171499 | single nucleotide variant | NM_153252.5(BRWD3):c.3955C>T (p.Arg1319Cys) | not provided [RCV003874283] | uncertain significance | X | 80686913 | 80686913 | Human | | name |
| 405270323 | CV3187687 | single nucleotide variant | NM_153252.5(BRWD3):c.3714A>C (p.Leu1238Phe) | not provided [RCV003887771] | uncertain significance | X | 80689981 | 80689981 | Human | | name |
| 405288998 | CV3193939 | single nucleotide variant | NM_153252.5(BRWD3):c.3179A>T (p.Asp1060Val) | BRWD3-related disorder [RCV004544156] | uncertain significance | X | 80693024 | 80693024 | Human | | name , trait , alternate_id |
| 405709041 | CV3298352 | single nucleotide variant | NM_153252.5(BRWD3):c.4235T>C (p.Ile1412Thr) | Inborn genetic diseases [RCV004426522] | uncertain significance | X | 80682627 | 80682627 | Human | 1 | name |
| 407426566 | CV3411398 | single nucleotide variant | NM_153252.5(BRWD3):c.3890C>G (p.Ser1297Cys) | not provided [RCV004590575] | uncertain significance | X | 80686978 | 80686978 | Human | | name |
| 407488521 | CV3421563 | single nucleotide variant | NM_153252.5(BRWD3):c.4234A>G (p.Ile1412Val) | Inborn genetic diseases [RCV004603989] | uncertain significance | X | 80682628 | 80682628 | Human | 1 | name |
| 407574544 | CV3499555 | single nucleotide variant | NM_153252.5(BRWD3):c.3409G>A (p.Glu1137Lys) | not provided [RCV004719550] | uncertain significance | X | 80691895 | 80691895 | Human | | name |
| 408371080 | CV3504662 | single nucleotide variant | NM_153252.5(BRWD3):c.3709G>A (p.Val1237Ile) | BRWD3-related disorder [RCV004724372]|not provided [RCV005103657] | uncertain significance | X | 80689986 | 80689986 | Human | 1 | name , trait , alternate_id |
| 408386719 | CV3518508 | single nucleotide variant | NM_153252.5(BRWD3):c.4406G>A (p.Gly1469Glu) | not provided [RCV004760826] | uncertain significance | X | 80682086 | 80682086 | Human | | name |
| 408392954 | CV3519628 | single nucleotide variant | NM_153252.5(BRWD3):c.3593G>A (p.Arg1198His) | not provided [RCV004763924] | uncertain significance | X | 80691062 | 80691062 | Human | | name |
| 408388652 | CV3522712 | single nucleotide variant | NM_153252.5(BRWD3):c.3073C>G (p.His1025Asp) | not provided [RCV004769093] | uncertain significance | X | 80695986 | 80695986 | Human | | name |
| 408389526 | CV3524599 | single nucleotide variant | NM_153252.5(BRWD3):c.4441G>C (p.Asp1481His) | not provided [RCV004769494] | uncertain significance | X | 80682051 | 80682051 | Human | | name |
| 408381538 | CV3526528 | single nucleotide variant | NM_153252.5(BRWD3):c.4731T>G (p.Ser1577Arg) | not provided [RCV004771841] | uncertain significance | X | 80677287 | 80677287 | Human | | name |
| 596931432 | CV3531768 | single nucleotide variant | NM_153252.5(BRWD3):c.3149T>C (p.Ile1050Thr) | not provided [RCV004781330] | uncertain significance | X | 80695910 | 80695910 | Human | | name |
| 596920945 | CV3534317 | single nucleotide variant | NM_153252.5(BRWD3):c.4562C>T (p.Ser1521Leu) | not specified [RCV004783536] | uncertain significance | X | 80681433 | 80681433 | Human | | name |
| 596921856 | CV3535483 | single nucleotide variant | NM_153252.5(BRWD3):c.5357G>A (p.Arg1786His) | Intellectual disability, X-linked 93 [RCV004785038] | uncertain significance | X | 80676661 | 80676661 | Human | 1 | name |
| 596927208 | CV3536522 | single nucleotide variant | NM_153252.5(BRWD3):c.3962A>T (p.Asp1321Val) | Intellectual disability, X-linked 93 [RCV004789931] | uncertain significance | X | 80686906 | 80686906 | Human | 1 | name |
| 596923043 | CV3537527 | single nucleotide variant | NM_153252.5(BRWD3):c.4446G>C (p.Gln1482His) | not provided [RCV004787497] | uncertain significance | X | 80682046 | 80682046 | Human | | name |
| 596943957 | CV3543041 | single nucleotide variant | NM_153252.5(BRWD3):c.3556A>G (p.Thr1186Ala) | not provided [RCV004798626] | uncertain significance | X | 80691099 | 80691099 | Human | | name |
| 596945022 | CV3543679 | single nucleotide variant | NM_153252.5(BRWD3):c.4151A>G (p.Tyr1384Cys) | not provided [RCV004801801] | uncertain significance | X | 80684092 | 80684092 | Human | | name |
| 596942226 | CV3544023 | single nucleotide variant | NM_153252.5(BRWD3):c.3780A>C (p.Glu1260Asp) | not specified [RCV004800013] | uncertain significance | X | 80689795 | 80689795 | Human | | name |
| 596940228 | CV3550842 | single nucleotide variant | NM_153252.5(BRWD3):c.3050G>C (p.Gly1017Ala) | not provided [RCV004814742] | uncertain significance | X | 80696757 | 80696757 | Human | | name |
| 597637414 | CV3637306 | single nucleotide variant | NM_153252.5(BRWD3):c.4370G>A (p.Ser1457Asn) | Inborn genetic diseases [RCV004970194] | uncertain significance | X | 80682492 | 80682492 | Human | 1 | name |
| 597637417 | CV3637307 | single nucleotide variant | NM_153252.5(BRWD3):c.3731A>G (p.Asp1244Gly) | Inborn genetic diseases [RCV004970195] | uncertain significance | X | 80689844 | 80689844 | Human | 1 | name |
| 597637428 | CV3637311 | single nucleotide variant | NM_153252.5(BRWD3):c.3082C>G (p.Pro1028Ala) | Inborn genetic diseases [RCV004970198] | uncertain significance | X | 80695977 | 80695977 | Human | 1 | name |
| 597637432 | CV3637312 | single nucleotide variant | NM_153252.5(BRWD3):c.4168T>C (p.Phe1390Leu) | Inborn genetic diseases [RCV004970199] | uncertain significance | X | 80684075 | 80684075 | Human | 1 | name |
| 597658390 | CV3729936 | single nucleotide variant | NM_153252.5(BRWD3):c.3196A>G (p.Thr1066Ala) | Intellectual disability, X-linked 93 [RCV005041915] | uncertain significance | X | 80693007 | 80693007 | Human | 1 | name |
| 597834245 | CV3735218 | single nucleotide variant | NM_153252.5(BRWD3):c.3476C>G (p.Ser1159Cys) | not provided [RCV005054951] | uncertain significance | X | 80691828 | 80691828 | Human | | name |
| 597834942 | CV3735815 | single nucleotide variant | NM_153252.5(BRWD3):c.3603G>C (p.Arg1201Ser) | not provided [RCV005063678] | uncertain significance | X | 80690092 | 80690092 | Human | | name |
| 597906538 | CV3738772 | single nucleotide variant | NM_153252.5(BRWD3):c.4565C>T (p.Ser1522Leu) | not provided [RCV005073007] | benign | X | 80681430 | 80681430 | Human | | name |
| 597837316 | CV3740185 | single nucleotide variant | NM_153252.5(BRWD3):c.4062A>C (p.Gln1354His) | not provided [RCV005064213] | benign | X | 80685480 | 80685480 | Human | | name |
| 597890053 | CV3749243 | single nucleotide variant | NM_153252.5(BRWD3):c.3838G>A (p.Gly1280Ser) | not provided [RCV005071027] | uncertain significance | X | 80688095 | 80688095 | Human | | name |
| 597952428 | CV3756624 | single nucleotide variant | NM_153252.5(BRWD3):c.4537G>C (p.Asp1513His) | not provided [RCV005079682] | uncertain significance | X | 80681458 | 80681458 | Human | | name |
| 597862380 | CV3766490 | single nucleotide variant | NM_153252.5(BRWD3):c.4656T>A (p.Asp1552Glu) | not provided [RCV005106215] | uncertain significance | X | 80677362 | 80677362 | Human | | name |
| 597909700 | CV3770277 | single nucleotide variant | NM_153252.5(BRWD3):c.3435A>C (p.Glu1145Asp) | not provided [RCV005113578] | uncertain significance | X | 80691869 | 80691869 | Human | | name |
| 597897308 | CV3773894 | single nucleotide variant | NM_153252.5(BRWD3):c.4907T>C (p.Val1636Ala) | not provided [RCV005111615] | uncertain significance | X | 80677111 | 80677111 | Human | | name |
| 597897324 | CV3773896 | single nucleotide variant | NM_153252.5(BRWD3):c.4469G>A (p.Arg1490Lys) | not provided [RCV005111617] | uncertain significance | X | 80682023 | 80682023 | Human | | name |
| 597897332 | CV3773897 | single nucleotide variant | NM_153252.5(BRWD3):c.4055G>C (p.Arg1352Thr) | not provided [RCV005111618] | uncertain significance | X | 80685487 | 80685487 | Human | | name |
| 597939928 | CV3785234 | single nucleotide variant | NM_153252.5(BRWD3):c.5108G>A (p.Gly1703Asp) | not provided [RCV005133339] | uncertain significance | X | 80676910 | 80676910 | Human | | name |
| 12836719 | CV379474 | single nucleotide variant | NM_153252.5(BRWD3):c.4732G>A (p.Ala1578Thr) | not provided [RCV000423891] | uncertain significance | X | 80677286 | 80677286 | Human | | name |
| 12840096 | CV379551 | single nucleotide variant | NM_153252.5(BRWD3):c.5237G>A (p.Arg1746Gln) | not provided [RCV000430053] | uncertain significance | X | 80676781 | 80676781 | Human | | name |
| 12844403 | CV379552 | single nucleotide variant | NM_153252.5(BRWD3):c.4757G>A (p.Gly1586Glu) | not provided [RCV000437933] | uncertain significance | X | 80677261 | 80677261 | Human | | name |
| 12847166 | CV380132 | single nucleotide variant | NM_153252.5(BRWD3):c.5117G>A (p.Gly1706Glu) | not provided [RCV000442988] | uncertain significance | X | 80676901 | 80676901 | Human | | name |
| 597970826 | CV3802103 | single nucleotide variant | NM_153252.5(BRWD3):c.4526A>G (p.Tyr1509Cys) | not provided [RCV005141895] | uncertain significance | X | 80681469 | 80681469 | Human | | name |
| 597939395 | CV3818637 | single nucleotide variant | NM_153252.5(BRWD3):c.5179C>T (p.Arg1727Cys) | not provided [RCV005158643] | uncertain significance | X | 80676839 | 80676839 | Human | | name |
| 597967187 | CV3823852 | single nucleotide variant | NM_153252.5(BRWD3):c.4312A>G (p.Ile1438Val) | not provided [RCV005165272] | uncertain significance | X | 80682550 | 80682550 | Human | | name |
| 597961635 | CV3844087 | single nucleotide variant | NM_153252.5(BRWD3):c.4760G>A (p.Gly1587Glu) | not provided [RCV005192933] | uncertain significance | X | 80677258 | 80677258 | Human | | name |
| 597874528 | CV3846386 | single nucleotide variant | NM_153252.5(BRWD3):c.4628G>A (p.Arg1543Gln) | not provided [RCV005177269] | benign | X | 80681367 | 80681367 | Human | | name |
| 597936116 | CV3863714 | single nucleotide variant | NM_153252.5(BRWD3):c.4667A>G (p.Asp1556Gly) | not provided [RCV005207527] | uncertain significance | X | 80677351 | 80677351 | Human | | name |
| 598122314 | CV3884330 | single nucleotide variant | NM_153252.5(BRWD3):c.3071A>G (p.Tyr1024Cys) | not specified [RCV005237021] | uncertain significance | X | 80695988 | 80695988 | Human | | name |
| 598125685 | CV3885894 | single nucleotide variant | NM_153252.5(BRWD3):c.3016G>T (p.Ala1006Ser) | not provided [RCV005241697] | uncertain significance | X | 80696791 | 80696791 | Human | | name |
| 598200486 | CV3892663 | single nucleotide variant | NM_153252.5(BRWD3):c.5286T>G (p.Asp1762Glu) | not provided [RCV005254496] | uncertain significance | X | 80676732 | 80676732 | Human | | name |
| 598233149 | CV3893211 | single nucleotide variant | NM_153252.5(BRWD3):c.3034T>A (p.Ser1012Thr) | Intellectual disability, X-linked 93 [RCV005255977] | uncertain significance | X | 80696773 | 80696773 | Human | 1 | name |
| 598160566 | CV3897301 | single nucleotide variant | NM_153252.5(BRWD3):c.5143G>A (p.Gly1715Ser) | Intellectual disability, X-linked 93 [RCV005368270] | uncertain significance | X | 80676875 | 80676875 | Human | 1 | name |
| 598174733 | CV3939089 | single nucleotide variant | NM_153252.5(BRWD3):c.3358C>T (p.Pro1120Ser) | Inborn genetic diseases [RCV005309754] | uncertain significance | X | 80691946 | 80691946 | Human | 1 | name |
| 598174737 | CV3939090 | single nucleotide variant | NM_153252.5(BRWD3):c.4000T>G (p.Tyr1334Asp) | Inborn genetic diseases [RCV005309755] | uncertain significance | X | 80686868 | 80686868 | Human | 1 | name |
| 598210980 | CV3939094 | single nucleotide variant | NM_153252.5(BRWD3):c.4969C>A (p.Gln1657Lys) | Inborn genetic diseases [RCV005315944] | uncertain significance | X | 80677049 | 80677049 | Human | 1 | name |
| 616934486 | CV4012491 | single nucleotide variant | NM_153252.5(BRWD3):c.4207G>A (p.Ala1403Thr) | not specified [RCV005409528] | uncertain significance | X | 80684036 | 80684036 | Human | | name |
| 616939220 | CV4015550 | single nucleotide variant | NM_153252.5(BRWD3):c.3733C>A (p.Gln1245Lys) | not provided [RCV005413062] | uncertain significance | X | 80689842 | 80689842 | Human | | name |
| 12900398 | CV411499 | single nucleotide variant | NM_153252.5(BRWD3):c.3359C>T (p.Pro1120Leu) | not provided [RCV000482323] | uncertain significance | X | 80691945 | 80691945 | Human | | name |
| 12906217 | CV415817 | single nucleotide variant | NM_153252.5(BRWD3):c.3433G>A (p.Glu1145Lys) | not provided [RCV000488959] | uncertain significance | X | 80691871 | 80691871 | Human | | name |
| 13445732 | CV438458 | single nucleotide variant | NM_153252.5(BRWD3):c.4849A>T (p.Ser1617Cys) | not provided [RCV000512790] | uncertain significance | X | 80677169 | 80677169 | Human | | name |
| 13489202 | CV446792 | single nucleotide variant | NM_153252.5(BRWD3):c.4994G>A (p.Trp1665Ter) | not provided [RCV000523814] | uncertain significance | X | 80677024 | 80677024 | Human | | name |
| 13798038 | CV553163 | single nucleotide variant | NM_153252.5(BRWD3):c.5236C>T (p.Arg1746Ter) | Intellectual disability, X-linked 93 [RCV000681484] | uncertain significance | X | 80676782 | 80676782 | Human | 1 | name |
| 14395958 | CV611960 | single nucleotide variant | NM_153252.5(BRWD3):c.5089C>T (p.Arg1697Ter) | not provided [RCV000760679] | pathogenic|likely pathogenic | X | 80676929 | 80676929 | Human | | name |
| 14395868 | CV611961 | single nucleotide variant | NM_153252.5(BRWD3):c.4054A>T (p.Arg1352Ter) | not provided [RCV000760583] | pathogenic | X | 80685488 | 80685488 | Human | | name |
| 14396107 | CV611962 | single nucleotide variant | NM_153252.5(BRWD3):c.4015G>T (p.Glu1339Ter) | not provided [RCV000760840] | pathogenic | X | 80685527 | 80685527 | Human | | name |
| 15104740 | CV774259 | single nucleotide variant | NM_153252.5(BRWD3):c.4088A>G (p.Gln1363Arg) | Inborn genetic diseases [RCV003169403]|not provided [RCV000937444] | benign|likely benign | X | 80684155 | 80684155 | Human | 1 | name |
| 21075141 | CV798412 | single nucleotide variant | NM_153252.5(BRWD3):c.5297A>T (p.Asp1766Val) | Inborn genetic diseases [RCV002346203]|not provided [RCV000995975] | uncertain significance | X | 80676721 | 80676721 | Human | 1 | name |
| 28888147 | CV860938 | single nucleotide variant | NM_153252.5(BRWD3):c.3031A>G (p.Ile1011Val) | not provided [RCV001092038] | uncertain significance | X | 80696776 | 80696776 | Human | | name |
| 28883874 | CV903240 | single nucleotide variant | NM_153252.5(BRWD3):c.4328G>C (p.Arg1443Thr) | Inborn genetic diseases [RCV004601378]|Intellectual disability, X-linked 93 [RCV001168336] | uncertain significance | X | 80682534 | 80682534 | Human | 2 | name |
| 28883879 | CV903241 | single nucleotide variant | NM_153252.5(BRWD3):c.3965C>T (p.Ser1322Leu) | Intellectual disability, X-linked 93 [RCV001168337]|not provided [RCV003727934] | uncertain significance | X | 80686903 | 80686903 | Human | 1 | name |
| 8637934 | CV93160 | single nucleotide variant | NM_153252.4(BRWD3):c.4736C>T (p.Ser1579Leu) | Malignant melanoma [RCV000073258] | not provided | X | 80677282 | 80677282 | Human | | name |
| 38596408 | CV964006 | single nucleotide variant | NM_153252.5(BRWD3):c.4184G>A (p.Arg1395His) | Intellectual disability [RCV001251696] | likely benign | X | 80684059 | 80684059 | Human | 2 | name |
| 40815325 | CV971232 | single nucleotide variant | NM_153252.5(BRWD3):c.5080C>T (p.Arg1694Ter) | not provided [RCV003156332] | pathogenic|uncertain significance|no classifications from unflagged records | X | 80676938 | 80676938 | Human | | name |
| 40886609 | CV974439 | single nucleotide variant | NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter) | Inborn genetic diseases [RCV001265773] | pathogenic | X | 80686982 | 80686982 | Human | 1 | name |
| 40889992 | CV975652 | single nucleotide variant | NM_153252.5(BRWD3):c.3208C>T (p.Gln1070Ter) | not provided [RCV001268546] | pathogenic | X | 80692995 | 80692995 | Human | | name |
| 40904227 | CV976691 | single nucleotide variant | NM_153252.5(BRWD3):c.5345C>A (p.Ser1782Ter) | Intellectual disability, X-linked 93 [RCV001270390] | uncertain significance | X | 80676673 | 80676673 | Human | 1 | name |
| 156436192 | CV2403653 | duplication | NM_153252.5(BRWD3):c.828_829dup (p.Lys277fs) | Intellectual disability, X-linked 93 [RCV003128101] | pathogenic | X | 80736072 | 80736073 | Human | 1 | name |
| 408394710 | CV3521991 | microsatellite | NM_153252.5(BRWD3):c.665_666del (p.Ser222fs) | Intellectual disability, X-linked 93 [RCV004764812] | pathogenic | X | 80744179 | 80744180 | Human | | name |
| 617152614 | CV4017876 | deletion | NM_153252.5(BRWD3):c.824_827del (p.Ser275fs) | Intellectual disability, X-linked 93 [RCV005417666] | likely pathogenic | X | 80736075 | 80736078 | Human | 1 | name |
| 151767427 | CV1341203 | microsatellite | NM_153252.5(BRWD3):c.2557TCA[1] (p.Ser855del) | not provided [RCV001863748] | uncertain significance | X | 80704837 | 80704839 | Human | | name |
| 21075144 | CV798415 | microsatellite | NM_153252.5(BRWD3):c.2295GAA[1] (p.Lys768del) | not provided [RCV000995978] | uncertain significance | X | 80716182 | 80716184 | Human | | name |
| 153302279 | CV1689534 | microsatellite | NM_153252.5(BRWD3):c.4057CAA[1] (p.Gln1354del) | not provided [RCV002267485] | uncertain significance | X | 80685480 | 80685482 | Human | | name |
| 405219757 | CV2870250 | deletion | NM_153252.5(BRWD3):c.2103_2104del (p.His701fs) | not provided [RCV003553703] | pathogenic | X | 80717700 | 80717701 | Human | | name |
| 408389629 | CV3524672 | microsatellite | NM_153252.5(BRWD3):c.3762TAA[1] (p.Asn1255del) | not provided [RCV004769567] | uncertain significance | X | 80689808 | 80689810 | Human | | name |
| 12742165 | CV360695 | duplication | NM_153252.5(BRWD3):c.2598_2601dup (p.Leu868fs) | not provided [RCV000413023] | pathogenic | X | 80704797 | 80704798 | Human | | name |
| 401913684 | CV2799587 | deletion | NM_153252.5(BRWD3):c.4273_4274del (p.His1426fs) | BRWD3-related disorder [RCV004534299] | likely pathogenic | X | 80682588 | 80682589 | Human | | name , trait , alternate_id |
| 408371068 | CV3504754 | deletion | NM_153252.5(BRWD3):c.4345_4351del (p.Arg1449fs) | BRWD3-related disorder [RCV004724435] | likely pathogenic | X | 80682511 | 80682517 | Human | | name , trait , alternate_id |
| 14396612 | CV612340 | microsatellite | NM_153252.5(BRWD3):c.3200_3201del (p.Val1067fs) | Intellectual disability, X-linked 93 [RCV000761506] | pathogenic | X | 80693002 | 80693003 | Human | | name |
| 151349420 | CV1325339 | deletion | NM_153252.5(BRWD3):c.3697_3699del (p.Ile1233del) | Intellectual disability, X-linked 93 [RCV001814629] | uncertain significance | X | 80689996 | 80689998 | Human | 1 | name |
| 402488733 | CV2856546 | indel | NM_153252.5(BRWD3):c.845_846delinsTT (p.Tyr282Phe) | not provided [RCV003572795] | uncertain significance | X | 80736056 | 80736057 | Human | | name |
| 150438286 | CV1286822 | indel | NM_153252.5(BRWD3):c.4887delinsAGATCA (p.Arg1630fs) | Intellectual disability, X-linked 93 [RCV001724768] | uncertain significance | X | 80677131 | 80677131 | Human | | name |
| 150547978 | CV1303944 | indel | NM_153252.5(BRWD3):c.4598_4599delinsTT (p.Ser1533Ile) | not provided [RCV001764047] | uncertain significance | X | 80681396 | 80681397 | Human | | name |
| 402506494 | CV3039166 | indel | NM_153252.5(BRWD3):c.4968_4969delinsAA (p.Gln1657Lys) | not provided [RCV003715251] | uncertain significance | X | 80677049 | 80677050 | Human | | name |
| 408393383 | CV3519795 | indel | NM_153252.5(BRWD3):c.4177_4178delinsTT (p.Asp1393Phe) | not provided [RCV004764091] | uncertain significance | X | 80684065 | 80684066 | Human | | name |
| 407502348 | CV3495670 | duplication | NM_153252.5(BRWD3):c.5039dup (p.Gly1680_Arg1681insTer) | not provided [RCV004697510] | likely pathogenic | X | 80676978 | 80676979 | Human | | name |
| 408388559 | CV3529022 | deletion | NM_153252.5(BRWD3):c.2615_2623del (p.Lys872_Gln874del) | not provided [RCV004773844] | uncertain significance | X | 80704776 | 80704784 | Human | | name |
| 401797912 | CV2739138 | deletion | NM_153252.5(BRWD3):c.4666_4677del (p.Asp1556_Leu1559del) | not provided [RCV003318785] | uncertain significance | X | 80677341 | 80677352 | Human | | name |
| 243049862 | CV2417103 | microsatellite | NM_153252.5(BRWD3):c.4057CAA[4] (p.Gln1354_Asp1355insGlnGln) | not provided [RCV003151973] | uncertain significance | X | 80685479 | 80685480 | Human | | name |
| 150405392 | CV1178804 | insertion | NM_153252.5(BRWD3):c.4006-137_4006-136insAGAATGACGAATGTACAATTT | not provided [RCV001544843] | likely benign | X | 80685672 | 80685673 | Human | | name |
| 598228216 | CV3894604 | deletion | NM_153252.5(BRWD3):c.3255_3256del (p.Tyr1085_Ser1086delinsTer) | not provided [RCV005257848] | pathogenic | X | 80692947 | 80692948 | Human | | name |
| 155957516 | CV2066408 | microsatellite | NM_153252.5(BRWD3):c.4866CTCTGA[3] (p.Ser1625_Glu1626insAspSer) | not provided [RCV002816598] | uncertain significance | X | 80677140 | 80677141 | Human | | name |