GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000050295] |
Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:3502990-4580491)x3 |
copy number gain |
See cases [RCV000050886] |
Chr5:3502990..4580491 [GRCh38] Chr5:3503104..4580604 [GRCh37] Chr5:3556104..4633604 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 |
copy number loss |
See cases [RCV000051100] |
Chr5:49978..4014647 [GRCh38] Chr5:50093..4014761 [GRCh37] Chr5:103093..4067761 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 |
copy number gain |
See cases [RCV000051810] |
Chr5:54839..45649861 [GRCh38] Chr5:54954..45649963 [GRCh37] Chr5:107954..45685720 [NCBI36] Chr5:5p15.33-12 |
pathogenic |
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 |
copy number gain |
See cases [RCV000051811] |
Chr5:54839..35680845 [GRCh38] Chr5:54954..35680947 [GRCh37] Chr5:107954..35716704 [NCBI36] Chr5:5p15.33-13.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:3075612-7650835)x3 |
copy number gain |
See cases [RCV000051812] |
Chr5:3075612..7650835 [GRCh38] Chr5:3075726..7650948 [GRCh37] Chr5:3128726..7703948 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 |
copy number gain |
See cases [RCV000051808] |
Chr5:21949..8872509 [GRCh38] Chr5:21949..8872621 [GRCh37] Chr5:74949..8925621 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 |
copy number gain |
See cases [RCV000051809] |
Chr5:49778..8872509 [GRCh38] Chr5:49893..8872621 [GRCh37] Chr5:102893..8925621 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 |
copy number loss |
See cases [RCV000053397] |
Chr5:22149..7213275 [GRCh38] Chr5:22149..7213388 [GRCh37] Chr5:75149..7266388 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 |
copy number loss |
See cases [RCV000053398] |
Chr5:22149..23132046 [GRCh38] Chr5:22149..23132155 [GRCh37] Chr5:75149..23167912 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 |
copy number loss |
See cases [RCV000053399] |
Chr5:22149..12004091 [GRCh38] Chr5:22149..12004203 [GRCh37] Chr5:75149..12057203 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] |
Chr5:22149..17425613 [GRCh38] Chr5:22149..17425722 [GRCh37] Chr5:75149..17478722 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 |
copy number loss |
See cases [RCV000053416] |
Chr5:22149..10044087 [GRCh38] Chr5:22149..10044199 [GRCh37] Chr5:75149..10097199 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] |
Chr5:22149..4580491 [GRCh38] Chr5:22149..4580604 [GRCh37] Chr5:75149..4633604 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] |
Chr5:22149..15995341 [GRCh38] Chr5:22149..15995450 [GRCh37] Chr5:75149..16048450 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 |
copy number loss |
See cases [RCV000053422] |
Chr5:49778..16908798 [GRCh38] Chr5:49893..16908907 [GRCh37] Chr5:102893..16961907 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 |
copy number loss |
See cases [RCV000053424] |
Chr5:49778..19125522 [GRCh38] Chr5:49893..19125631 [GRCh37] Chr5:102893..19161388 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 |
copy number loss |
See cases [RCV000053444] |
Chr5:54839..5603401 [GRCh38] Chr5:54954..5603514 [GRCh37] Chr5:107954..5656514 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] |
Chr5:547757..26541238 [GRCh38] Chr5:547872..26541347 [GRCh37] Chr5:600872..26577104 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 |
copy number loss |
See cases [RCV000053446] |
Chr5:2180761..17602433 [GRCh38] Chr5:2180875..17602542 [GRCh37] Chr5:2233875..17645646 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 |
copy number loss |
See cases [RCV000515550] |
Chr5:25328..30672798 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 |
copy number gain |
See cases [RCV000133788] |
Chr5:22149..33418188 [GRCh38] Chr5:22149..33418294 [GRCh37] Chr5:75149..33454051 [NCBI36] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 |
copy number loss |
See cases [RCV000133796] |
Chr5:22149..12819999 [GRCh38] Chr5:22149..12820111 [GRCh37] Chr5:75149..12873111 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 |
copy number loss |
See cases [RCV000133768] |
Chr5:22149..25699605 [GRCh38] Chr5:22149..25699714 [GRCh37] Chr5:75149..25735471 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 |
copy number loss |
See cases [RCV000135878] |
Chr5:49978..30112535 [GRCh38] Chr5:50093..30112642 [GRCh37] Chr5:103093..30148399 [NCBI36] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 |
copy number gain |
See cases [RCV000135453] |
Chr5:49978..46114984 [GRCh38] Chr5:50093..46115086 [GRCh37] Chr5:103093..46150843 [NCBI36] Chr5:5p15.33-11 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 |
copy number loss |
See cases [RCV000136556] |
Chr5:22149..16584575 [GRCh38] Chr5:22149..16584684 [GRCh37] Chr5:75149..16637684 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:1544285-8681441)x3 |
copy number gain |
See cases [RCV000136901] |
Chr5:1544285..8681441 [GRCh38] Chr5:1544400..8681553 [GRCh37] Chr5:1597400..8734553 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 |
copy number loss |
See cases [RCV000137072] |
Chr5:22149..27485619 [GRCh38] Chr5:22149..27485726 [GRCh37] Chr5:75149..27521483 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 |
copy number gain |
See cases [RCV000136943] |
Chr5:22149..15851376 [GRCh38] Chr5:22149..15851485 [GRCh37] Chr5:75149..15904485 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:2886163-7108295)x1 |
copy number loss |
See cases [RCV000137579] |
Chr5:2886163..7108295 [GRCh38] Chr5:2886277..7108408 [GRCh37] Chr5:2939277..7161408 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 |
copy number gain |
See cases [RCV000137682] |
Chr5:22149..28075106 [GRCh38] Chr5:22149..28075213 [GRCh37] Chr5:75149..28110970 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic|uncertain significance |
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 |
copy number loss |
See cases [RCV000138116] |
Chr5:22149..22775295 [GRCh38] Chr5:22149..22775404 [GRCh37] Chr5:75149..22811161 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 |
copy number loss |
See cases [RCV000138099] |
Chr5:22149..27187950 [GRCh38] Chr5:22149..27188057 [GRCh37] Chr5:75149..27223814 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 |
copy number loss |
See cases [RCV000137915] |
Chr5:22149..11530391 [GRCh38] Chr5:22149..11530503 [GRCh37] Chr5:75149..11583503 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 |
copy number gain |
See cases [RCV000137806] |
Chr5:22149..23607053 [GRCh38] Chr5:22149..23607162 [GRCh37] Chr5:75149..23642919 [NCBI36] Chr5:5p15.33-14.2 |
pathogenic |
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 |
copy number loss |
See cases [RCV000138888] |
Chr5:22149..35831538 [GRCh38] Chr5:22149..35831640 [GRCh37] Chr5:75149..35867397 [NCBI36] Chr5:5p15.33-13.2 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 |
copy number loss |
See cases [RCV000138553] |
Chr5:22149..21217120 [GRCh38] Chr5:22149..21217229 [GRCh37] Chr5:75149..21252986 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 |
copy number loss |
See cases [RCV000138288] |
Chr5:22149..17788697 [GRCh38] Chr5:22149..17788806 [GRCh37] Chr5:75149..17824563 [NCBI36] Chr5:5p15.33-15.1 |
likely benign |
GRCh38/hg38 5p15.33-15.32(chr5:3057457-4922388)x1 |
copy number loss |
See cases [RCV000140377] |
Chr5:3057457..4922388 [GRCh38] Chr5:3057571..4922501 [GRCh37] Chr5:3110571..4975501 [NCBI36] Chr5:5p15.33-15.32 |
uncertain significance |
GRCh38/hg38 5p15.33(chr5:22149-3619159) |
copy number gain |
See cases [RCV000139908] |
Chr5:22149..3619159 [GRCh38] Chr5:22149..3619273 [GRCh37] Chr5:75149..3672273 [NCBI36] Chr5:5p15.33 |
uncertain significance |
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 |
copy number loss |
See cases [RCV000141225] |
Chr5:22149..28589192 [GRCh38] Chr5:22149..28589299 [GRCh37] Chr5:75149..28625056 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 |
copy number loss |
See cases [RCV000141244] |
Chr5:22149..4833626 [GRCh38] Chr5:22149..4833739 [GRCh37] Chr5:75149..4886739 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 |
copy number loss |
See cases [RCV000141930] |
Chr5:113461..8875933 [GRCh38] Chr5:113576..8876045 [GRCh37] Chr5:166576..8929045 [NCBI36] Chr5:5p15.33-15.31 |
pathogenic |
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 |
copy number loss |
See cases [RCV000141844] |
Chr5:113461..33998289 [GRCh38] Chr5:113576..33998394 [GRCh37] Chr5:166576..34034151 [NCBI36] Chr5:5p15.33-13.2 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 |
copy number loss |
See cases [RCV000141898] |
Chr5:113461..6243977 [GRCh38] Chr5:113576..6244090 [GRCh37] Chr5:166576..6297090 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 |
copy number loss |
See cases [RCV000142183] |
Chr5:113461..14684362 [GRCh38] Chr5:113576..14684471 [GRCh37] Chr5:166576..14737471 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 |
copy number loss |
See cases [RCV000143022] |
Chr5:22149..21726360 [GRCh38] Chr5:22149..21726469 [GRCh37] Chr5:75149..21762226 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 |
copy number loss |
See cases [RCV000142934] |
Chr5:22149..27611163 [GRCh38] Chr5:22149..27611270 [GRCh37] Chr5:75149..27647027 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 |
copy number loss |
See cases [RCV000142697] |
Chr5:95128..5834551 [GRCh38] Chr5:95243..5834664 [GRCh37] Chr5:148243..5887664 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 |
copy number loss |
See cases [RCV000142645] |
Chr5:22149..26593891 [GRCh38] Chr5:22149..26594000 [GRCh37] Chr5:75149..26629757 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 |
copy number loss |
See cases [RCV000148250] |
Chr5:49978..15678451 [GRCh38] Chr5:50093..15678560 [GRCh37] Chr5:103093..15731560 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 |
copy number loss |
See cases [RCV000240157] |
Chr5:79146..15509107 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3 |
likely pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 |
copy number loss |
See cases [RCV000449075] |
Chr5:113576..33493797 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 |
copy number gain |
not provided [RCV000234904] |
Chr5:25328..19661628 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 |
copy number gain |
See cases [RCV000240016] |
Chr5:22149..34041255 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 |
copy number loss |
See cases [RCV001310287] |
Chr5:22149..29048823 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 |
copy number loss |
See cases [RCV000240389] |
Chr5:22149..13362684 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
NM_024337.4(IRX1):c.1433C>T (p.Pro478Leu) |
single nucleotide variant |
not specified [RCV004282501] |
Chr5:3601030 [GRCh38] Chr5:3601144 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 |
copy number loss |
See cases [RCV000449097] |
Chr5:113576..16854340 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 |
copy number gain |
See cases [RCV000449100] |
Chr5:3159498..30585683 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 |
copy number gain |
See cases [RCV000446077] |
Chr5:113576..30279389 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 |
copy number loss |
See cases [RCV000447679] |
Chr5:22149..6112711 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 |
copy number loss |
See cases [RCV000446974] |
Chr5:113576..34372083 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 |
copy number loss |
See cases [RCV000447483] |
Chr5:22149..9958240 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 |
copy number loss |
See cases [RCV000446677] |
Chr5:22149..4641409 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 |
copy number loss |
See cases [RCV000446645] |
Chr5:113576..17334977 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 |
copy number loss |
See cases [RCV000446523] |
Chr5:113576..6737134 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 |
copy number loss |
See cases [RCV000446054] |
Chr5:113576..27338567 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 |
copy number gain |
See cases [RCV000447632] |
Chr5:113576..14238330 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 |
copy number loss |
See cases [RCV000447462] |
Chr5:113576..25948451 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:1359855-7263257)x1 |
copy number loss |
See cases [RCV000445798] |
Chr5:1359855..7263257 [GRCh37] Chr5:5p15.33-15.31 |
likely pathogenic |
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 |
copy number loss |
See cases [RCV000448019] |
Chr5:22149..34041196 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 |
copy number loss |
See cases [RCV000448521] |
Chr5:113576..21786246 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 |
copy number loss |
See cases [RCV000448543] |
Chr5:22149..6500967 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 |
copy number loss |
See cases [RCV000447780] |
Chr5:22149..4163847 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 |
copy number loss |
See cases [RCV000448408] |
Chr5:113576..23147737 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 |
copy number loss |
See cases [RCV000447737] |
Chr5:79146..22152284 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 |
copy number gain |
See cases [RCV000447969] |
Chr5:149372..7883578 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 |
copy number loss |
See cases [RCV000512066] |
Chr5:113576..25091472 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 |
copy number loss |
See cases [RCV000511494] |
Chr5:113576..10163809 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 |
copy number loss |
See cases [RCV000511513] |
Chr5:113576..15291661 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 |
copy number loss |
See cases [RCV000510912] |
Chr5:113576..10729838 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 |
copy number loss |
See cases [RCV000510921] |
Chr5:113576..26948599 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 |
copy number loss |
See cases [RCV000510786] |
Chr5:113576..23047959 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
NM_024337.4(IRX1):c.103G>T (p.Ala35Ser) |
single nucleotide variant |
not specified [RCV004324206] |
Chr5:3596208 [GRCh38] Chr5:3596322 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.218C>T (p.Ala73Val) |
single nucleotide variant |
not specified [RCV004310768] |
Chr5:3596323 [GRCh38] Chr5:3596437 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.356C>T (p.Pro119Leu) |
single nucleotide variant |
not specified [RCV004317207] |
Chr5:3599304 [GRCh38] Chr5:3599418 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1096T>A (p.Cys366Ser) |
single nucleotide variant |
not specified [RCV004315487] |
Chr5:3600044 [GRCh38] Chr5:3600158 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 |
copy number loss |
See cases [RCV000512452] |
Chr5:113576..4175855 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 |
copy number gain |
See cases [RCV000512567] |
Chr5:113576..20240392 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 |
copy number loss |
not provided [RCV000682512] |
Chr5:113576..6125331 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 |
copy number loss |
not provided [RCV000682513] |
Chr5:113576..7946262 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 |
copy number loss |
not provided [RCV000682511] |
Chr5:113576..5884399 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 |
copy number loss |
not provided [RCV000682514] |
Chr5:113576..15822225 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 |
copy number loss |
not provided [RCV000682515] |
Chr5:113576..19167699 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 |
copy number gain |
not provided [RCV000682516] |
Chr5:113576..35739404 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 |
copy number loss |
not provided [RCV000744320] |
Chr5:25328..18662625 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 |
copy number gain |
not provided [RCV000744321] |
Chr5:25328..18698028 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 |
copy number loss |
not provided [RCV000744322] |
Chr5:25328..31343671 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 |
copy number loss |
not provided [RCV000762763] |
Chr5:52186..4163906 [GRCh37] Chr5:5p15.33 |
likely pathogenic |
NM_024337.4(IRX1):c.318C>T (p.Pro106=) |
single nucleotide variant |
IRX1-related disorder [RCV003903164]|not provided [RCV000946830] |
Chr5:3599266 [GRCh38] Chr5:3599380 [GRCh37] Chr5:5p15.33 |
benign |
NM_024337.4(IRX1):c.1254T>A (p.Ile418=) |
single nucleotide variant |
IRX1-related disorder [RCV003930536]|not provided [RCV000881205] |
Chr5:3600202 [GRCh38] Chr5:3600316 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) |
copy number loss |
5p partial monosomy syndrome [RCV000767710] |
Chr5:140474..9792158 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) |
copy number loss |
5p partial monosomy syndrome [RCV000767709] |
Chr5:140474..26906925 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 |
copy number loss |
not provided [RCV001005641] |
Chr5:113576..4325585 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 |
copy number loss |
not provided [RCV001005643] |
Chr5:113576..14738180 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
NM_024337.4(IRX1):c.915C>A (p.Gly305=) |
single nucleotide variant |
not provided [RCV000937926] |
Chr5:3599863 [GRCh38] Chr5:3599977 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 |
copy number loss |
not provided [RCV001005645] |
Chr5:113576..5657333 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 |
copy number loss |
not provided [RCV001005646] |
Chr5:113576..5194484 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1 |
copy number loss |
not provided [RCV001005649] |
Chr5:1322680..10762544 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) |
copy number loss |
5p partial monosomy syndrome [RCV001195139] |
Chr5:71904..22078969 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
NM_024337.4(IRX1):c.1024G>C (p.Gly342Arg) |
single nucleotide variant |
not specified [RCV004301420] |
Chr5:3599972 [GRCh38] Chr5:3600086 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.96T>G (p.Ala32=) |
single nucleotide variant |
not provided [RCV003312615] |
Chr5:3596201 [GRCh38] Chr5:3596315 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_024337.4(IRX1):c.94G>T (p.Ala32Ser) |
single nucleotide variant |
not specified [RCV004294424] |
Chr5:3596199 [GRCh38] Chr5:3596313 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.207G>A (p.Pro69=) |
single nucleotide variant |
not provided [RCV000915470] |
Chr5:3596312 [GRCh38] Chr5:3596426 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 |
copy number loss |
not provided [RCV002472712] |
Chr5:1..32091038 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 |
copy number loss |
not provided [RCV001005644] |
Chr5:113576..11767720 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 |
copy number loss |
not provided [RCV001258846] |
Chr5:113576..4305172 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:13200-4012072)x1 |
copy number loss |
not provided [RCV001537929] |
Chr5:13200..4012072 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 |
copy number loss |
not provided [RCV001827855] |
Chr5:113577..16952167 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1 |
copy number loss |
See cases [RCV002286352] |
Chr5:113576..8007018 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) |
copy number gain |
5p partial monosomy syndrome [RCV002280773] |
Chr5:113576..29310520 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 |
copy number loss |
not provided [RCV002473919] |
Chr5:113577..17654787 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
NM_024337.4(IRX1):c.1271A>G (p.Asn424Ser) |
single nucleotide variant |
not specified [RCV004146841] |
Chr5:3600219 [GRCh38] Chr5:3600333 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.275T>C (p.Met92Thr) |
single nucleotide variant |
not specified [RCV004149500] |
Chr5:3596380 [GRCh38] Chr5:3596494 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 |
copy number loss |
not provided [RCV002475666] |
Chr5:113577..31448527 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 |
copy number loss |
not provided [RCV002475573] |
Chr5:113577..26164852 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
NM_024337.4(IRX1):c.1064C>T (p.Pro355Leu) |
single nucleotide variant |
not specified [RCV004115350] |
Chr5:3600012 [GRCh38] Chr5:3600126 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.874G>A (p.Gly292Ser) |
single nucleotide variant |
not specified [RCV004246763] |
Chr5:3599822 [GRCh38] Chr5:3599936 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.92C>T (p.Ala31Val) |
single nucleotide variant |
not specified [RCV004203476] |
Chr5:3596197 [GRCh38] Chr5:3596311 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.214G>C (p.Gly72Arg) |
single nucleotide variant |
not specified [RCV004167272] |
Chr5:3596319 [GRCh38] Chr5:3596433 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1345G>A (p.Ala449Thr) |
single nucleotide variant |
not specified [RCV004246629] |
Chr5:3600641 [GRCh38] Chr5:3600755 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.820G>A (p.Val274Ile) |
single nucleotide variant |
not specified [RCV004167517] |
Chr5:3599768 [GRCh38] Chr5:3599882 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.764C>T (p.Pro255Leu) |
single nucleotide variant |
not specified [RCV004223978] |
Chr5:3599712 [GRCh38] Chr5:3599826 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.267C>A (p.Phe89Leu) |
single nucleotide variant |
not specified [RCV004219223] |
Chr5:3596372 [GRCh38] Chr5:3596486 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.211G>C (p.Ala71Pro) |
single nucleotide variant |
not specified [RCV004150443] |
Chr5:3596316 [GRCh38] Chr5:3596430 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.761C>T (p.Ala254Val) |
single nucleotide variant |
not specified [RCV004173987] |
Chr5:3599709 [GRCh38] Chr5:3599823 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.830C>T (p.Pro277Leu) |
single nucleotide variant |
not specified [RCV004251402] |
Chr5:3599778 [GRCh38] Chr5:3599892 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.504G>T (p.Lys168Asn) |
single nucleotide variant |
not specified [RCV004268744] |
Chr5:3599452 [GRCh38] Chr5:3599566 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.42C>G (p.Ala14=) |
single nucleotide variant |
not provided [RCV003327148] |
Chr5:3596147 [GRCh38] Chr5:3596261 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_024337.4(IRX1):c.1381G>T (p.Asp461Tyr) |
single nucleotide variant |
not specified [RCV004336965] |
Chr5:3600677 [GRCh38] Chr5:3600791 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 |
copy number loss |
not provided [RCV003485447] |
Chr5:113577..35613146 [GRCh37] Chr5:5p15.33-13.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 |
copy number loss |
not provided [RCV003485448] |
Chr5:113577..11095056 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 |
copy number loss |
not provided [RCV003485449] |
Chr5:113577..30529044 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 |
copy number loss |
not provided [RCV003485450] |
Chr5:113577..21529653 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 |
copy number loss |
not provided [RCV003485453] |
Chr5:862398..18927500 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 |
copy number gain |
not provided [RCV003484599] |
Chr5:113577..27800913 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
NM_024337.4(IRX1):c.1357A>C (p.Lys453Gln) |
single nucleotide variant |
IRX1-related disorder [RCV003402601] |
Chr5:3600653 [GRCh38] Chr5:3600767 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.189G>A (p.Met63Ile) |
single nucleotide variant |
not provided [RCV003436374] |
Chr5:3596294 [GRCh38] Chr5:3596408 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 |
copy number loss |
not specified [RCV003986544] |
Chr5:113576..28300709 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 |
copy number loss |
not specified [RCV003986593] |
Chr5:113576..19388145 [GRCh37] Chr5:5p15.33-14.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1 |
copy number loss |
not specified [RCV003986597] |
Chr5:113576..7436985 [GRCh37] Chr5:5p15.33-15.31 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 |
copy number loss |
not specified [RCV003986598] |
Chr5:3272715..17317051 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 |
copy number loss |
not specified [RCV003986560] |
Chr5:113576..26534253 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33(chr5:113576-3612214)x1 |
copy number loss |
not specified [RCV003986564] |
Chr5:113576..3612214 [GRCh37] Chr5:5p15.33 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 |
copy number loss |
not specified [RCV003986599] |
Chr5:113576..10835556 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 |
copy number loss |
not specified [RCV003986589] |
Chr5:113576..17511896 [GRCh37] Chr5:5p15.33-15.1 |
pathogenic |
NM_024337.4(IRX1):c.933C>T (p.His311=) |
single nucleotide variant |
IRX1-related disorder [RCV003951437] |
Chr5:3599881 [GRCh38] Chr5:3599995 [GRCh37] Chr5:5p15.33 |
likely benign |
NM_024337.4(IRX1):c.1272T>C (p.Asn424=) |
single nucleotide variant |
IRX1-related disorder [RCV003974388] |
Chr5:3600220 [GRCh38] Chr5:3600334 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3 |
copy number gain |
not provided [RCV004442822] |
Chr5:113577..31773283 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1 |
copy number loss |
not provided [RCV004442820] |
Chr5:113577..13341742 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
NM_024337.4(IRX1):c.960G>A (p.Ala320=) |
single nucleotide variant |
IRX1-related disorder [RCV003919574] |
Chr5:3599908 [GRCh38] Chr5:3600022 [GRCh37] Chr5:5p15.33 |
benign |
NM_024337.4(IRX1):c.1074G>A (p.Leu358=) |
single nucleotide variant |
IRX1-related disorder [RCV003979607] |
Chr5:3600022 [GRCh38] Chr5:3600136 [GRCh37] Chr5:5p15.33 |
benign |
NM_024337.4(IRX1):c.1301C>T (p.Pro434Leu) |
single nucleotide variant |
not specified [RCV004403338] |
Chr5:3600249 [GRCh38] Chr5:3600363 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1368C>A (p.Phe456Leu) |
single nucleotide variant |
not specified [RCV004403339] |
Chr5:3600664 [GRCh38] Chr5:3600778 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.40G>C (p.Ala14Pro) |
single nucleotide variant |
not specified [RCV004403340] |
Chr5:3596145 [GRCh38] Chr5:3596259 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.49C>T (p.Pro17Ser) |
single nucleotide variant |
not specified [RCV004403341] |
Chr5:3596154 [GRCh38] Chr5:3596268 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.755C>T (p.Pro252Leu) |
single nucleotide variant |
not specified [RCV004403342] |
Chr5:3599703 [GRCh38] Chr5:3599817 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.770C>A (p.Ala257Asp) |
single nucleotide variant |
not specified [RCV004403343] |
Chr5:3599718 [GRCh38] Chr5:3599832 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.974G>C (p.Ser325Thr) |
single nucleotide variant |
not specified [RCV004403344] |
Chr5:3599922 [GRCh38] Chr5:3600036 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.806T>G (p.Leu269Arg) |
single nucleotide variant |
not specified [RCV004633234] |
Chr5:3599754 [GRCh38] Chr5:3599868 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.44C>T (p.Ala15Val) |
single nucleotide variant |
not specified [RCV004633235] |
Chr5:3596149 [GRCh38] Chr5:3596263 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1283C>A (p.Ala428Asp) |
single nucleotide variant |
not specified [RCV004633233] |
Chr5:3600231 [GRCh38] Chr5:3600345 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.853G>A (p.Ala285Thr) |
single nucleotide variant |
not specified [RCV004633236] |
Chr5:3599801 [GRCh38] Chr5:3599915 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.889C>A (p.Leu297Met) |
single nucleotide variant |
not specified [RCV004926896] |
Chr5:3599837 [GRCh38] Chr5:3599951 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1433C>G (p.Pro478Arg) |
single nucleotide variant |
not specified [RCV004926897] |
Chr5:3601030 [GRCh38] Chr5:3601144 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1291C>G (p.Arg431Gly) |
single nucleotide variant |
not specified [RCV004926898] |
Chr5:3600239 [GRCh38] Chr5:3600353 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.639C>A (p.Asp213Glu) |
single nucleotide variant |
not specified [RCV004926899] |
Chr5:3599587 [GRCh38] Chr5:3599701 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1423G>C (p.Ala475Pro) |
single nucleotide variant |
not specified [RCV004926900] |
Chr5:3601020 [GRCh38] Chr5:3601134 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.341C>G (p.Ala114Gly) |
single nucleotide variant |
not specified [RCV004926901] |
Chr5:3599289 [GRCh38] Chr5:3599403 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.745G>T (p.Ala249Ser) |
single nucleotide variant |
not specified [RCV004926903] |
Chr5:3599693 [GRCh38] Chr5:3599807 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1241C>T (p.Pro414Leu) |
single nucleotide variant |
not specified [RCV004926894] |
Chr5:3600189 [GRCh38] Chr5:3600303 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.934G>C (p.Gly312Arg) |
single nucleotide variant |
not specified [RCV004926895] |
Chr5:3599882 [GRCh38] Chr5:3599996 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.738G>A (p.Glu246=) |
single nucleotide variant |
IRX1-related disorder [RCV003911805] |
Chr5:3599686 [GRCh38] Chr5:3599800 [GRCh37] Chr5:5p15.33 |
likely benign |
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 |
copy number loss |
See cases [RCV000053419] |
Chr5:22419..19280892 [GRCh38] Chr5:22419..19281001 [GRCh37] Chr5:75419..19316758 [NCBI36] Chr5:5p15.33-14.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 |
copy number loss |
See cases [RCV000053423] |
Chr5:49778..4768868 [GRCh38] Chr5:49893..4768981 [GRCh37] Chr5:102893..4821981 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 |
copy number loss |
See cases [RCV000134873] |
Chr5:22149..27788616 [GRCh38] Chr5:22149..27788723 [GRCh37] Chr5:75149..27824480 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 |
copy number loss |
See cases [RCV000135668] |
Chr5:22149..32248010 [GRCh38] Chr5:22149..32248116 [GRCh37] Chr5:75149..32283873 [NCBI36] Chr5:5p15.33-13.3 |
pathogenic |
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 |
copy number loss |
See cases [RCV000137165] |
Chr5:22149..28429241 [GRCh38] Chr5:22149..28429348 [GRCh37] Chr5:75149..28465105 [NCBI36] Chr5:5p15.33-14.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 |
copy number loss |
See cases [RCV000138215] |
Chr5:22149..6060102 [GRCh38] Chr5:22149..6060215 [GRCh37] Chr5:75149..6113215 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 |
copy number loss |
See cases [RCV000137942] |
Chr5:22149..4260151 [GRCh38] Chr5:22149..4260264 [GRCh37] Chr5:75149..4313264 [NCBI36] Chr5:5p15.33 |
pathogenic |
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 |
copy number loss |
See cases [RCV000137884] |
Chr5:22149..11429258 [GRCh38] Chr5:22149..11429370 [GRCh37] Chr5:75149..11482370 [NCBI36] Chr5:5p15.33-15.2 |
pathogenic |
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38] Chr5:22149..73708550 [GRCh37] Chr5:75149..73744306 [NCBI36] Chr5:5p15.33-q13.3 |
pathogenic |
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 |
copy number loss |
See cases [RCV000140964] |
Chr5:22149..16930016 [GRCh38] Chr5:22149..16930125 [GRCh37] Chr5:75149..16983125 [NCBI36] Chr5:5p15.33-15.1 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 |
copy number loss |
See cases [RCV000143018] |
Chr5:22149..5059896 [GRCh38] Chr5:22149..5060009 [GRCh37] Chr5:75149..5113009 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 |
copy number loss |
See cases [RCV000143332] |
Chr5:22149..5102586 [GRCh38] Chr5:22149..5102699 [GRCh37] Chr5:75149..5155699 [NCBI36] Chr5:5p15.33-15.32 |
pathogenic |
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) |
copy number loss |
5p partial monosomy syndrome [RCV002280774] |
Chr5:113576..12601027 [GRCh37] Chr5:5p15.33-15.2 |
pathogenic |
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 |
copy number loss |
See cases [RCV002285039] |
Chr5:113576..30712376 [GRCh37] Chr5:5p15.33-13.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 |
copy number loss |
See cases [RCV000447672] |
Chr5:22149..24835567 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 |
copy number loss |
See cases [RCV000510193] |
Chr5:113576..26234903 [GRCh37] Chr5:5p15.33-14.1 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 |
copy number loss |
See cases [RCV000511088] |
Chr5:113576..5380741 [GRCh37] Chr5:5p15.33-15.32 |
pathogenic |
NM_024337.4(IRX1):c.584C>T (p.Ala195Val) |
single nucleotide variant |
not specified [RCV004326496] |
Chr5:3599532 [GRCh38] Chr5:3599646 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.1028C>A (p.Ala343Glu) |
single nucleotide variant |
not specified [RCV004295273] |
Chr5:3599976 [GRCh38] Chr5:3600090 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 |
copy number loss |
not provided [RCV001005642] |
Chr5:113576..23364376 [GRCh37] Chr5:5p15.33-14.2 |
pathogenic |
NM_024337.4(IRX1):c.1333C>A (p.Pro445Thr) |
single nucleotide variant |
IRX1-related disorder [RCV003903165]|not provided [RCV000946831] |
Chr5:3600629 [GRCh38] Chr5:3600743 [GRCh37] Chr5:5p15.33 |
benign |
GRCh37/hg19 5p15.33-15.32(chr5:2402960-5395826)x3 |
copy number gain |
not provided [RCV001005651] |
Chr5:2402960..5395826 [GRCh37] Chr5:5p15.33-15.32 |
uncertain significance |
NM_024337.4(IRX1):c.772C>T (p.Pro258Ser) |
single nucleotide variant |
not specified [RCV004129992] |
Chr5:3599720 [GRCh38] Chr5:3599834 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.766G>C (p.Ala256Pro) |
single nucleotide variant |
not specified [RCV004219017] |
Chr5:3599714 [GRCh38] Chr5:3599828 [GRCh37] Chr5:5p15.33 |
uncertain significance |
NM_024337.4(IRX1):c.779C>G (p.Ala260Gly) |
single nucleotide variant |
not specified [RCV004253821] |
Chr5:3599727 [GRCh38] Chr5:3599841 [GRCh37] Chr5:5p15.33 |
uncertain significance |
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 |
copy number loss |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] |
Chr5:9999..14320000 [GRCh38] Chr5:5p15.33-15.2 |
pathogenic |
NM_024337.4(IRX1):c.780T>C (p.Ala260=) |
single nucleotide variant |
IRX1-related disorder [RCV003907164] |
Chr5:3599728 [GRCh38] Chr5:3599842 [GRCh37] Chr5:5p15.33 |
likely benign |