NC_000004.11:g.(?_186064507)_(186436064_?)dup |
duplication |
Primary dilated cardiomyopathy [RCV000546834] |
Chr4:186064507..186436064 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 |
copy number loss |
See cases [RCV000050324] |
Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 |
copy number loss |
See cases [RCV000050771] |
Chr4:173599911..188624331 [GRCh38] Chr4:174521062..189545485 [GRCh37] Chr4:174757637..189782479 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 |
copy number gain |
See cases [RCV000050649] |
Chr4:162013220..189975519 [GRCh38] Chr4:162934372..190828225 [GRCh37] Chr4:163153822..191133668 [NCBI36] Chr4:4q32.2-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 |
copy number loss |
See cases [RCV000050665] |
Chr4:183528264..188624331 [GRCh38] Chr4:184449417..189545485 [GRCh37] Chr4:184686411..189782479 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 |
copy number gain |
See cases [RCV000051785] |
Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 |
copy number gain |
See cases [RCV000051786] |
Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] |
Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] |
Chr4:167218288..189975519 [GRCh38] Chr4:168139439..190828225 [GRCh37] Chr4:168376014..191133668 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 |
copy number gain |
See cases [RCV000051804] |
Chr4:172200228..189975519 [GRCh38] Chr4:173121379..190828225 [GRCh37] Chr4:173357954..191133668 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] |
Chr4:181455566..189975660 [GRCh38] Chr4:182376719..190828225 [GRCh37] Chr4:182613713..191133809 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 |
copy number loss |
See cases [RCV000053378] |
Chr4:183354112..190042639 [GRCh38] Chr4:184275265..190828225 [GRCh37] Chr4:184512259..191200788 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 |
copy number loss |
See cases [RCV000053379] |
Chr4:185074103..189867552 [GRCh38] Chr4:185995257..190788707 [GRCh37] Chr4:186232251..191025701 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] |
Chr4:176263514..189975519 [GRCh38] Chr4:177184665..190828225 [GRCh37] Chr4:177421659..191133668 [NCBI36] Chr4:4q34.2-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 |
copy number loss |
See cases [RCV000053374] |
Chr4:177442769..190042639 [GRCh38] Chr4:178363923..190828225 [GRCh37] Chr4:178600917..191200788 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 |
copy number loss |
See cases [RCV000053375] |
Chr4:179669472..189975660 [GRCh38] Chr4:180590625..190828225 [GRCh37] Chr4:180827619..191133809 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] |
Chr4:179945868..189975660 [GRCh38] Chr4:180867021..190828225 [GRCh37] Chr4:181104015..191133809 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 |
copy number gain |
See cases [RCV000133708] |
Chr4:184327081..189975519 [GRCh38] Chr4:185248234..190828225 [GRCh37] Chr4:185485228..191133668 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 |
copy number loss |
See cases [RCV000051215] |
Chr4:175483683..189975519 [GRCh38] Chr4:176404834..190828225 [GRCh37] Chr4:176641828..191133668 [NCBI36] Chr4:4q34.2-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 |
copy number gain |
See cases [RCV000051805] |
Chr4:179946068..189548183 [GRCh38] Chr4:180867221..190469337 [GRCh37] Chr4:181104215..190706331 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3 |
copy number gain |
See cases [RCV000051806] |
Chr4:182990639..186013514 [GRCh38] Chr4:183911792..186934668 [GRCh37] Chr4:184148786..187171662 [NCBI36] Chr4:4q35.1 |
pathogenic |
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] |
Chr4:158568335..189975660 [GRCh38] Chr4:159489487..190828225 [GRCh37] Chr4:159708937..191133809 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] |
Chr4:163651681..189975519 [GRCh38] Chr4:164572833..190828225 [GRCh37] Chr4:164792283..191133668 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 |
copy number loss |
See cases [RCV000053347] |
Chr4:164039530..189982708 [GRCh38] Chr4:164960682..190828225 [GRCh37] Chr4:165180132..191140857 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 |
copy number loss |
See cases [RCV000053349] |
Chr4:171507704..189869726 [GRCh38] Chr4:172428855..190790881 [GRCh37] Chr4:172665430..191027875 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 |
copy number loss |
See cases [RCV000053352] |
Chr4:172356988..189975519 [GRCh38] Chr4:173278139..190828225 [GRCh37] Chr4:173514714..191133668 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 |
copy number loss |
See cases [RCV000053353] |
Chr4:173754675..189343295 [GRCh38] Chr4:174675826..190264449 [GRCh37] Chr4:174912401..190501443 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 |
copy number loss |
See cases [RCV000133709] |
Chr4:184327081..189975519 [GRCh38] Chr4:185248234..190896674 [GRCh37] Chr4:185485228..191133668 [NCBI36] Chr4:4q35.1-35.2 |
likely pathogenic|likely benign |
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 |
copy number gain |
See cases [RCV000134158] |
Chr4:184406972..188915538 [GRCh38] Chr4:185328126..189836692 [GRCh37] Chr4:185565120..190073686 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 |
copy number loss |
See cases [RCV000134276] |
Chr4:182437091..190018185 [GRCh38] Chr4:183358244..190939340 [GRCh37] Chr4:183595238..191176334 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 |
copy number gain |
See cases [RCV000135693] |
Chr4:180451652..190095391 [GRCh38] Chr4:181372805..190828225 [GRCh37] Chr4:181609799..191250527 [NCBI36] Chr4:4q34.3-35.2 |
likely pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 |
copy number loss |
See cases [RCV000136115] |
Chr4:173854560..189548183 [GRCh38] Chr4:174775711..190469337 [GRCh37] Chr4:175012286..190706331 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 |
copy number loss |
See cases [RCV000136942] |
Chr4:184239531..189975519 [GRCh38] Chr4:185160684..190828225 [GRCh37] Chr4:185397678..191133668 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 |
copy number loss |
See cases [RCV000137101] |
Chr4:177985956..189975519 [GRCh38] Chr4:178907110..190828225 [GRCh37] Chr4:179144104..191133668 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 |
copy number gain |
See cases [RCV000136810] |
Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 |
copy number gain |
See cases [RCV000137721] |
Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 |
copy number loss |
See cases [RCV000137532] |
Chr4:166317587..190095391 [GRCh38] Chr4:167238739..190828225 [GRCh37] Chr4:167458189..191250527 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 |
copy number loss |
See cases [RCV000137262] |
Chr4:178549472..190095391 [GRCh38] Chr4:179470626..190828225 [GRCh37] Chr4:179707620..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 |
copy number loss |
See cases [RCV000137925] |
Chr4:174150183..188259055 [GRCh38] Chr4:175071334..189180209 [GRCh37] Chr4:175307909..189417203 [NCBI36] Chr4:4q34.1-35.2 |
likely pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 |
copy number loss |
See cases [RCV000138668] |
Chr4:183072743..190095391 [GRCh38] Chr4:183993896..190828225 [GRCh37] Chr4:184230890..191250527 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 |
copy number gain |
See cases [RCV000138578] |
Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1 |
pathogenic|likely benign |
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 |
copy number loss |
See cases [RCV000140396] |
Chr4:169873508..190018185 [GRCh38] Chr4:170794659..190939340 [GRCh37] Chr4:171031234..191176334 [NCBI36] Chr4:4q33-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 |
copy number gain |
See cases [RCV000140450] |
Chr4:179295511..190036318 [GRCh38] Chr4:180216665..190957473 [GRCh37] Chr4:180453659..191194467 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 |
copy number gain |
See cases [RCV000141422] |
Chr4:184924265..186578389 [GRCh38] Chr4:185845419..187499543 [GRCh37] Chr4:186082413..187736537 [NCBI36] Chr4:4q35.1-35.2 |
pathogenic |
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 |
copy number gain |
See cases [RCV000141753] |
Chr4:182732498..187998523 [GRCh38] Chr4:183653651..188919677 [GRCh37] Chr4:183890645..189156671 [NCBI36] Chr4:4q35.1-35.2 |
likely pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 |
copy number loss |
See cases [RCV000143079] |
Chr4:172501374..190095332 [GRCh38] Chr4:173422525..190828225 [GRCh37] Chr4:173659100..191250468 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 |
copy number loss |
See cases [RCV000143232] |
Chr4:170899124..190036318 [GRCh38] Chr4:171820275..190957473 [GRCh37] Chr4:172056850..191194467 [NCBI36] Chr4:4q33-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 |
copy number loss |
See cases [RCV000143626] |
Chr4:176756632..189621964 [GRCh38] Chr4:177677786..190543118 [GRCh37] Chr4:177914780..190780112 [NCBI36] Chr4:4q34.3-35.2 |
likely pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 |
copy number gain |
See cases [RCV000143559] |
Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 |
copy number loss |
See cases [RCV000148272] |
Chr4:181579626..186100199 [GRCh38] Chr4:182500779..187021353 [GRCh37] Chr4:182737773..187258347 [NCBI36] Chr4:4q34.3-35.1 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 |
copy number loss |
See cases [RCV000239790] |
Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 |
copy number loss |
See cases [RCV000239851] |
Chr4:178243625..190713650 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1 |
copy number loss |
See cases [RCV000240072] |
Chr4:185941418..189180194 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 |
copy number gain |
See cases [RCV000240392] |
Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1 |
copy number loss |
FETAL DEMISE [RCV002282976] |
Chr4:174944132..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 |
copy number loss |
See cases [RCV002292706] |
Chr4:167779888..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 |
copy number loss |
See cases [RCV000446613] |
Chr4:175550289..190838582 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)x3 |
copy number gain |
See cases [RCV000446235] |
Chr4:185978583..188762387 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 |
copy number gain |
See cases [RCV000446531] |
Chr4:166735148..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 |
copy number loss |
See cases [RCV000445881] |
Chr4:175749001..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 |
copy number loss |
See cases [RCV000448048] |
Chr4:175550289..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3 |
copy number gain |
See cases [RCV000448219] |
Chr4:183959053..186858555 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1 |
copy number loss |
See cases [RCV000512074] |
Chr4:184852835..190957473 [GRCh37] Chr4:4q35.1-35.2 |
likely pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 |
copy number gain |
See cases [RCV000510222] |
Chr4:166436844..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3 |
copy number gain |
See cases [RCV000510660] |
Chr4:185958310..189223175 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 |
copy number gain |
See cases [RCV000510713] |
Chr4:153890440..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 |
copy number gain |
See cases [RCV000511945] |
Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185979169-186790163)x3 |
copy number gain |
See cases [RCV000511113] |
Chr4:185979169..186790163 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3 |
copy number gain |
See cases [RCV000510983] |
Chr4:184870144..186592638 [GRCh37] Chr4:4q35.1 |
likely benign |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 |
copy number gain |
See cases [RCV000510970] |
Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
NC_000004.12:g.(?_185143353)_(185535454_?)del |
deletion |
Primary dilated cardiomyopathy [RCV000629186] |
Chr4:185143353..185535454 [GRCh38] Chr4:186064507..186456608 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
Single allele |
deletion |
not provided [RCV000677918] |
Chr4:176270886..190713650 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1 |
copy number loss |
not provided [RCV000744206] |
Chr4:183157313..191028879 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1 |
copy number loss |
not provided [RCV000744226] |
Chr4:185137253..190915650 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:186100290-186101773)x1 |
copy number loss |
not provided [RCV000744233] |
Chr4:186100290..186101773 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_020827.3(CFAP97):c.874T>C (p.Tyr292His) |
single nucleotide variant |
not specified [RCV004288456] |
Chr4:185190323 [GRCh38] Chr4:186111477 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1496C>T (p.Thr499Met) |
single nucleotide variant |
not provided [RCV000972237] |
Chr4:185162901 [GRCh38] Chr4:186084055 [GRCh37] Chr4:4q35.1 |
benign |
NM_020827.3(CFAP97):c.1161C>T (p.Ile387=) |
single nucleotide variant |
not provided [RCV000970303] |
Chr4:185175945 [GRCh38] Chr4:186097099 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) |
copy number loss |
not provided [RCV000767793] |
Chr4:174610492..190427545 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 |
copy number loss |
not provided [RCV000845722] |
Chr4:166623890..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 |
copy number loss |
not provided [RCV001005626] |
Chr4:178566256..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3 |
copy number gain |
not provided [RCV001005631] |
Chr4:185785184..188207908 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1(chr4:186008401-186265992)x3 |
copy number gain |
not provided [RCV001005633] |
Chr4:186008401..186265992 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1(chr4:186031029-186490645)x3 |
copy number gain |
not provided [RCV000849688] |
Chr4:186031029..186490645 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 |
copy number loss |
not provided [RCV000846268] |
Chr4:177189906..190816266 [GRCh37] Chr4:4q34.2-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185874622-186167917)x3 |
copy number gain |
not provided [RCV001005632] |
Chr4:185874622..186167917 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 |
copy number gain |
not provided [RCV000847360] |
Chr4:169607746..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 |
copy number gain |
not provided [RCV000849098] |
Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1 |
copy number loss |
not provided [RCV000846185] |
Chr4:184648532..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
NM_020827.3(CFAP97):c.1149G>A (p.Glu383=) |
single nucleotide variant |
not provided [RCV000962098] |
Chr4:185175957 [GRCh38] Chr4:186097111 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 |
copy number loss |
not provided [RCV000998343] |
Chr4:183245174..190948359 [GRCh37] Chr4:4q35.1-35.2 |
likely pathogenic |
GRCh37/hg19 4q35.1(chr4:185779167-186206723)x3 |
copy number gain |
not provided [RCV001005630] |
Chr4:185779167..186206723 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 |
copy number loss |
not provided [RCV001005612] |
Chr4:165010461..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 |
copy number gain |
not provided [RCV001005627] |
Chr4:179752903..187987047 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185745161-186099203)x3 |
copy number gain |
not provided [RCV001259892] |
Chr4:185745161..186099203 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) |
copy number loss |
Atypical behavior [RCV001291982] |
Chr4:179554876..190916678 [GRCh37] Chr4:4q34.3-35.2 |
likely pathogenic |
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) |
copy number gain |
not specified [RCV002053465] |
Chr4:159755174..190225765 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473) |
copy number loss |
not specified [RCV002053473] |
Chr4:183221828..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473) |
copy number loss |
not specified [RCV002053475] |
Chr4:185381293..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387) |
copy number gain |
not specified [RCV002053476] |
Chr4:185978583..188762387 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) |
copy number gain |
not specified [RCV002053471] |
Chr4:175855408..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
NC_000004.11:g.(?_186064527)_(187630981_?)del |
deletion |
Herpes simplex encephalitis, susceptibility to, 1 [RCV001877781]|not provided [RCV003120734] |
Chr4:186064527..187630981 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic|uncertain significance|no classifications from unflagged records |
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 |
copy number loss |
See cases [RCV002292401] |
Chr4:159174483..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185935020-186237904)x3 |
copy number gain |
not provided [RCV002474641] |
Chr4:185935020..186237904 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1 |
copy number loss |
not provided [RCV002472626] |
Chr4:183694501..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:186004963-186269925)x3 |
copy number gain |
not provided [RCV002474983] |
Chr4:186004963..186269925 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1094A>G (p.His365Arg) |
single nucleotide variant |
not specified [RCV004137363] |
Chr4:185176012 [GRCh38] Chr4:186097166 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1128C>G (p.Asn376Lys) |
single nucleotide variant |
not specified [RCV004160739] |
Chr4:185175978 [GRCh38] Chr4:186097132 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.634T>C (p.Ser212Pro) |
single nucleotide variant |
not specified [RCV004203062] |
Chr4:185190563 [GRCh38] Chr4:186111717 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.727C>T (p.His243Tyr) |
single nucleotide variant |
not specified [RCV004240519] |
Chr4:185190470 [GRCh38] Chr4:186111624 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.217G>A (p.Val73Met) |
single nucleotide variant |
not specified [RCV004169539] |
Chr4:185190980 [GRCh38] Chr4:186112134 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1224A>C (p.Lys408Asn) |
single nucleotide variant |
not specified [RCV004111848] |
Chr4:185175882 [GRCh38] Chr4:186097036 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1143A>C (p.Arg381Ser) |
single nucleotide variant |
not specified [RCV004177940] |
Chr4:185175963 [GRCh38] Chr4:186097117 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1523G>A (p.Arg508Gln) |
single nucleotide variant |
not specified [RCV004176538] |
Chr4:185162874 [GRCh38] Chr4:186084028 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.793C>T (p.Pro265Ser) |
single nucleotide variant |
not specified [RCV004076202] |
Chr4:185190404 [GRCh38] Chr4:186111558 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.269G>A (p.Ser90Asn) |
single nucleotide variant |
not specified [RCV004236708] |
Chr4:185190928 [GRCh38] Chr4:186112082 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_020827.3(CFAP97):c.466A>C (p.Thr156Pro) |
single nucleotide variant |
not specified [RCV004072282] |
Chr4:185190731 [GRCh38] Chr4:186111885 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.131T>C (p.Ile44Thr) |
single nucleotide variant |
not specified [RCV004180965] |
Chr4:185191066 [GRCh38] Chr4:186112220 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.998A>G (p.His333Arg) |
single nucleotide variant |
not specified [RCV004155379] |
Chr4:185190199 [GRCh38] Chr4:186111353 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.110A>G (p.Asn37Ser) |
single nucleotide variant |
not specified [RCV004189235] |
Chr4:185191087 [GRCh38] Chr4:186112241 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.217G>C (p.Val73Leu) |
single nucleotide variant |
not specified [RCV004082113] |
Chr4:185190980 [GRCh38] Chr4:186112134 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_020827.3(CFAP97):c.25G>A (p.Glu9Lys) |
single nucleotide variant |
not specified [RCV004208516] |
Chr4:185191172 [GRCh38] Chr4:186112326 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1529C>T (p.Ala510Val) |
single nucleotide variant |
not specified [RCV004219458] |
Chr4:185162868 [GRCh38] Chr4:186084022 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_020827.3(CFAP97):c.1372T>G (p.Ser458Ala) |
single nucleotide variant |
not specified [RCV004075261] |
Chr4:185164128 [GRCh38] Chr4:186085282 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1535A>G (p.Asp512Gly) |
single nucleotide variant |
not specified [RCV004257137] |
Chr4:185162862 [GRCh38] Chr4:186084016 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1585A>T (p.Thr529Ser) |
single nucleotide variant |
not specified [RCV004273603] |
Chr4:185162812 [GRCh38] Chr4:186083966 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1399A>G (p.Asn467Asp) |
single nucleotide variant |
not specified [RCV004361078] |
Chr4:185164101 [GRCh38] Chr4:186085255 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.751A>T (p.Thr251Ser) |
single nucleotide variant |
not specified [RCV004355693] |
Chr4:185190446 [GRCh38] Chr4:186111600 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1564C>T (p.Pro522Ser) |
single nucleotide variant |
not specified [RCV004352847] |
Chr4:185162833 [GRCh38] Chr4:186083987 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1409A>G (p.Tyr470Cys) |
single nucleotide variant |
not specified [RCV004344565] |
Chr4:185164091 [GRCh38] Chr4:186085245 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 |
copy number gain |
not provided [RCV003484595] |
Chr4:167409608..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185978584-186403683)x3 |
copy number gain |
not provided [RCV003484598] |
Chr4:185978584..186403683 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 |
copy number gain |
not specified [RCV003986496] |
Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1 |
copy number loss |
not specified [RCV003986504] |
Chr4:175496275..186495932 [GRCh37] Chr4:4q34.1-35.1 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:184752570-186308447)x3 |
copy number gain |
not specified [RCV003986530] |
Chr4:184752570..186308447 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 |
copy number gain |
not specified [RCV003986533] |
Chr4:123399154..190957473 [GRCh37] Chr4:4q27-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 |
copy number loss |
not provided [RCV003885510] |
Chr4:169060637..191154276 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_020827.3(CFAP97):c.1241C>T (p.Ser414Leu) |
single nucleotide variant |
not specified [RCV004436552] |
Chr4:185175865 [GRCh38] Chr4:186097019 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1229C>T (p.Thr410Ile) |
single nucleotide variant |
not specified [RCV004436551] |
Chr4:185175877 [GRCh38] Chr4:186097031 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1345G>A (p.Val449Met) |
single nucleotide variant |
not specified [RCV004436553] |
Chr4:185164155 [GRCh38] Chr4:186085309 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1435C>T (p.Arg479Trp) |
single nucleotide variant |
not specified [RCV004436554] |
Chr4:185164065 [GRCh38] Chr4:186085219 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1523G>C (p.Arg508Pro) |
single nucleotide variant |
not specified [RCV004436555] |
Chr4:185162874 [GRCh38] Chr4:186084028 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.490A>G (p.Lys164Glu) |
single nucleotide variant |
not specified [RCV004436556] |
Chr4:185190707 [GRCh38] Chr4:186111861 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1010A>G (p.Gln337Arg) |
single nucleotide variant |
not specified [RCV004607444] |
Chr4:185190187 [GRCh38] Chr4:186111341 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.226C>T (p.Pro76Ser) |
single nucleotide variant |
not specified [RCV004607445] |
Chr4:185190971 [GRCh38] Chr4:186112125 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1549C>T (p.His517Tyr) |
single nucleotide variant |
not specified [RCV004607447] |
Chr4:185162848 [GRCh38] Chr4:186084002 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.958T>C (p.Ser320Pro) |
single nucleotide variant |
not specified [RCV004607448] |
Chr4:185190239 [GRCh38] Chr4:186111393 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.859G>A (p.Val287Met) |
single nucleotide variant |
not specified [RCV004607449] |
Chr4:185190338 [GRCh38] Chr4:186111492 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1139C>T (p.Thr380Ile) |
single nucleotide variant |
not specified [RCV004607450] |
Chr4:185175967 [GRCh38] Chr4:186097121 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.994G>T (p.Asp332Tyr) |
single nucleotide variant |
not specified [RCV004607451] |
Chr4:185190203 [GRCh38] Chr4:186111357 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1263A>G (p.Leu421=) |
single nucleotide variant |
not provided [RCV004810827] |
Chr4:185175843 [GRCh38] Chr4:186096997 [GRCh37] Chr4:4q35.1 |
likely benign |
GRCh37/hg19 4q34.3-35.2(chr4:179475329-190957473)x1 |
copy number loss |
not provided [RCV004819343] |
Chr4:179475329..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
NM_020827.3(CFAP97):c.1565C>T (p.Pro522Leu) |
single nucleotide variant |
not specified [RCV004904250] |
Chr4:185162832 [GRCh38] Chr4:186083986 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 |
copy number gain |
See cases [RCV000135845] |
Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 |
copy number loss |
See cases [RCV000137343] |
Chr4:178014570..190095391 [GRCh38] Chr4:178935724..190828225 [GRCh37] Chr4:179172718..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 |
copy number loss |
See cases [RCV000137345] |
Chr4:180574962..190095391 [GRCh38] Chr4:181496115..190828225 [GRCh37] Chr4:181733109..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic |
GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3 |
copy number gain |
See cases [RCV000137905] |
Chr4:184573059..185237739 [GRCh38] Chr4:185494213..186158893 [GRCh37] Chr4:185731207..186395887 [NCBI36] Chr4:4q35.1 |
uncertain significance |
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 |
copy number gain |
See cases [RCV000138540] |
Chr4:169901205..190095391 [GRCh38] Chr4:170822356..190828225 [GRCh37] Chr4:171058931..191250527 [NCBI36] Chr4:4q33-35.2 |
uncertain significance |
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 |
copy number loss |
See cases [RCV000140414] |
Chr4:165281036..190018185 [GRCh38] Chr4:166202188..190939340 [GRCh37] Chr4:166421638..191176334 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 |
copy number gain |
See cases [RCV000140982] |
Chr4:160757699..190091407 [GRCh38] Chr4:161678851..191012562 [GRCh37] Chr4:161898301..191246543 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 |
copy number loss |
See cases [RCV000141964] |
Chr4:167373716..190036318 [GRCh38] Chr4:168294867..190957473 [GRCh37] Chr4:168531442..191194467 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 |
copy number loss |
See cases [RCV000141490] |
Chr4:173989029..189975519 [GRCh38] Chr4:174910180..190828225 [GRCh37] Chr4:175146755..191133668 [NCBI36] Chr4:4q34.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 |
copy number loss |
See cases [RCV000142368] |
Chr4:168970400..186936738 [GRCh38] Chr4:169891551..187857892 [GRCh37] Chr4:170128126..188094886 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1 |
copy number loss |
See cases [RCV000142279] |
Chr4:181762338..185175891 [GRCh38] Chr4:182683491..186097045 [GRCh37] Chr4:182920485..186334039 [NCBI36] Chr4:4q34.3-35.1 |
uncertain significance |
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 |
copy number gain |
See cases [RCV000143010] |
Chr4:180717850..190095391 [GRCh38] Chr4:181639003..190828225 [GRCh37] Chr4:181875997..191250527 [NCBI36] Chr4:4q34.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 |
copy number gain |
See cases [RCV000143331] |
Chr4:168119317..190095391 [GRCh38] Chr4:169040468..190828225 [GRCh37] Chr4:169277043..191250527 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
NC_000004.12:g.185155215C>G |
single nucleotide variant |
Lung cancer [RCV000094458] |
Chr4:185155215 [GRCh38] Chr4:186076369 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1 |
copy number loss |
See cases [RCV000449363] |
Chr4:185381293..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1 |
copy number loss |
See cases [RCV000449221] |
Chr4:185253508..190713591 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 |
copy number loss |
See cases [RCV000446115] |
Chr4:167413365..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185787209-186451149)x3 |
copy number gain |
See cases [RCV000447805] |
Chr4:185787209..186451149 [GRCh37] Chr4:4q35.1 |
likely benign |
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 |
copy number gain |
See cases [RCV000511078] |
Chr4:176306103..190957473 [GRCh37] Chr4:4q34.2-35.2 |
pathogenic |
NM_020827.3(CFAP97):c.175A>G (p.Thr59Ala) |
single nucleotide variant |
not specified [RCV004330746] |
Chr4:185191022 [GRCh38] Chr4:186112176 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 |
copy number gain |
See cases [RCV000512153] |
Chr4:180702769..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 |
copy number gain |
See cases [RCV000512542] |
Chr4:156465633..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 |
copy number gain |
not provided [RCV000682478] |
Chr4:159492464..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 |
copy number loss |
not provided [RCV000682484] |
Chr4:169969014..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 |
copy number loss |
not provided [RCV000682492] |
Chr4:175709188..190957473 [GRCh37] Chr4:4q34.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 |
copy number gain |
not provided [RCV000682495] |
Chr4:178771936..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3 |
copy number gain |
not provided [RCV000682497] |
Chr4:185017749..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 |
copy number loss |
not provided [RCV000682493] |
Chr4:176493246..190957473 [GRCh37] Chr4:4q34.2-35.2 |
pathogenic |
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 |
copy number gain |
not provided [RCV000744219] |
Chr4:184040122..187880098 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NM_020827.3(CFAP97):c.339C>T (p.His113=) |
single nucleotide variant |
not provided [RCV000903743] |
Chr4:185190858 [GRCh38] Chr4:186112012 [GRCh37] Chr4:4q35.1 |
benign |
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) |
copy number loss |
not provided [RCV000767673] |
Chr4:171663620..190431429 [GRCh37] Chr4:4q33-35.2 |
pathogenic |
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 |
copy number loss |
not provided [RCV000849865] |
Chr4:179996712..190957473 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3 |
copy number gain |
not provided [RCV000849196] |
Chr4:185399884..186542127 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1184T>C (p.Leu395Ser) |
single nucleotide variant |
not specified [RCV004297251] |
Chr4:185175922 [GRCh38] Chr4:186097076 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1 |
copy number loss |
See cases [RCV002292211] |
Chr4:185211271..190957473 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
NM_020827.3(CFAP97):c.1022A>G (p.His341Arg) |
single nucleotide variant |
not specified [RCV004325646] |
Chr4:185190175 [GRCh38] Chr4:186111329 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1342G>A (p.Ala448Thr) |
single nucleotide variant |
not specified [RCV004319058] |
Chr4:185164158 [GRCh38] Chr4:186085312 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1 |
copy number loss |
not provided [RCV002472580] |
Chr4:185748860..188413920 [GRCh37] Chr4:4q35.1-35.2 |
pathogenic |
GRCh37/hg19 4q35.1(chr4:185979170-186266573)x3 |
copy number gain |
not provided [RCV002473648] |
Chr4:185979170..186266573 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1059T>A (p.Phe353Leu) |
single nucleotide variant |
not specified [RCV004189146] |
Chr4:185176047 [GRCh38] Chr4:186097201 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.994G>C (p.Asp332His) |
single nucleotide variant |
not specified [RCV004342147] |
Chr4:185190203 [GRCh38] Chr4:186111357 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.190C>G (p.Leu64Val) |
single nucleotide variant |
not specified [RCV004356250] |
Chr4:185191007 [GRCh38] Chr4:186112161 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.455C>G (p.Ala152Gly) |
single nucleotide variant |
not specified [RCV004352423] |
Chr4:185190742 [GRCh38] Chr4:186111896 [GRCh37] Chr4:4q35.1 |
uncertain significance |
Single allele |
deletion |
not provided [RCV003448667] |
Chr4:180937545..190915069 [GRCh37] Chr4:4q34.3-35.2 |
pathogenic |
NM_020827.3(CFAP97):c.1530G>A (p.Ala510=) |
single nucleotide variant |
not provided [RCV003436344] |
Chr4:185162867 [GRCh38] Chr4:186084021 [GRCh37] Chr4:4q35.1 |
likely benign |
GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3 |
copy number gain |
not specified [RCV003986502] |
Chr4:184577681..186368031 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 |
copy number loss |
not specified [RCV003986532] |
Chr4:161589441..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
NC_000004.11:g.(?_186064502)_(187630981_?)dup |
duplication |
not provided [RCV004580822] |
Chr4:186064502..187630981 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NM_020827.3(CFAP97):c.760G>A (p.Asp254Asn) |
single nucleotide variant |
not specified [RCV004607441] |
Chr4:185190437 [GRCh38] Chr4:186111591 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1582C>T (p.Arg528Cys) |
single nucleotide variant |
not specified [RCV004607442] |
Chr4:185162815 [GRCh38] Chr4:186083969 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1291G>C (p.Glu431Gln) |
single nucleotide variant |
not specified [RCV004607443] |
Chr4:185175815 [GRCh38] Chr4:186096969 [GRCh37] Chr4:4q35.1 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:186003305-190957473)x1 |
copy number loss |
not provided [RCV004819771] |
Chr4:186003305..190957473 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
GRCh37/hg19 4q35.1-35.2(chr4:185885592-188449414)x3 |
copy number gain |
not provided [RCV004819487] |
Chr4:185885592..188449414 [GRCh37] Chr4:4q35.1-35.2 |
uncertain significance |
NM_020827.3(CFAP97):c.1370G>A (p.Arg457His) |
single nucleotide variant |
not specified [RCV004904241] |
Chr4:185164130 [GRCh38] Chr4:186085284 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.290C>T (p.Ser97Phe) |
single nucleotide variant |
not specified [RCV004904242] |
Chr4:185190907 [GRCh38] Chr4:186112061 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.171G>A (p.Met57Ile) |
single nucleotide variant |
not specified [RCV004904243] |
Chr4:185191026 [GRCh38] Chr4:186112180 [GRCh37] Chr4:4q35.1 |
likely benign |
NM_020827.3(CFAP97):c.1166G>A (p.Arg389Gln) |
single nucleotide variant |
not specified [RCV004904244] |
Chr4:185175940 [GRCh38] Chr4:186097094 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.884T>C (p.Val295Ala) |
single nucleotide variant |
not specified [RCV004904245] |
Chr4:185190313 [GRCh38] Chr4:186111467 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.1409A>T (p.Tyr470Phe) |
single nucleotide variant |
not specified [RCV004904246] |
Chr4:185164091 [GRCh38] Chr4:186085245 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.956T>C (p.Val319Ala) |
single nucleotide variant |
not specified [RCV004904247] |
Chr4:185190241 [GRCh38] Chr4:186111395 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.874T>A (p.Tyr292Asn) |
single nucleotide variant |
not specified [RCV004904248] |
Chr4:185190323 [GRCh38] Chr4:186111477 [GRCh37] Chr4:4q35.1 |
uncertain significance |
NM_020827.3(CFAP97):c.41A>G (p.His14Arg) |
single nucleotide variant |
not specified [RCV004904249] |
Chr4:185191156 [GRCh38] Chr4:186112310 [GRCh37] Chr4:4q35.1 |
uncertain significance |