| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| NM_006579.3(EBP):c.650C>T (p.Thr217Met) |
single nucleotide variant |
not specified [RCV000727892] |
ChrX:48528414 [GRCh38]
ChrX:48386802 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| NM_006579.3(EBP):c.87G>A (p.Trp29Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012238] |
ChrX:48523858 [GRCh38]
ChrX:48382246 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.187C>T (p.Arg63Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012239] |
ChrX:48523958 [GRCh38]
ChrX:48382346 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.238G>A (p.Glu80Lys) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012240] |
ChrX:48524009 [GRCh38]
ChrX:48382397 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.338+1G>T |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012241] |
ChrX:48527026 [GRCh38]
ChrX:48385414 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.390del (p.Pro131fs) |
deletion |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012242] |
ChrX:48527206 [GRCh38]
ChrX:48385594 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) |
insertion |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012243] |
ChrX:48528350..48528351 [GRCh38]
ChrX:48386738..48386739 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.386G>A (p.Trp129Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012244] |
ChrX:48527202 [GRCh38]
ChrX:48385590 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.523C>T (p.Gln175Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012245] |
ChrX:48528287 [GRCh38]
ChrX:48386675 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.587G>A (p.Trp196Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012246] |
ChrX:48528351 [GRCh38]
ChrX:48386739 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.440G>A (p.Arg147His) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000012247] |
ChrX:48527256 [GRCh38]
ChrX:48385644 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.53T>C (p.Leu18Pro) |
single nucleotide variant |
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL [RCV000012248]|MEND SYNDROME [RCV000012248]|MEND syndrome [RCV000012248] |
ChrX:48523824 [GRCh38]
ChrX:48382212 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
Ventricular septal defect [RCV000050889]|See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050810]|See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050811]|See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
Coarse facial features [RCV000050699]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050700]|See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|Postaxial polydactyly A5 [RCV000050698]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050697]|See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051026]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051026]|See cases [RCV000051026] |
ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
Obesity [RCV000052322]|See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052359]|See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
Hypertelorism [RCV000052324]|See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052325]|See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 |
copy number gain |
Global developmental delay [RCV000052390]|See cases [RCV000052390] |
ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 |
copy number gain |
Seizure [RCV000051992]|See cases [RCV000051992] |
ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 |
copy number loss |
Global developmental delay [RCV000053005]|See cases [RCV000053005] |
ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 |
copy number loss |
Global developmental delay [RCV000053007]|See cases [RCV000053007] |
ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 |
copy number loss |
Global developmental delay [RCV000052990]|See cases [RCV000052990] |
ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052994]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052994]|See cases [RCV000052994] |
ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] |
ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 |
copy number gain |
Specific learning disability [RCV000053817]|See cases [RCV000053817] |
ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 |
copy number gain |
See cases [RCV000239834] |
ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 |
copy number loss |
See cases [RCV000133817] |
ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 |
copy number loss |
See cases [RCV000133745] |
ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23 |
pathogenic |
| NM_006579.3(EBP):c.141G>T (p.Trp47Cys) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145922]|MEND syndrome [RCV000190980] |
ChrX:48523912 [GRCh38]
ChrX:48382300 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.15G>T (p.Ala5=) |
single nucleotide variant |
not specified [RCV000145923] |
ChrX:48523786 [GRCh38]
ChrX:48382174 [GRCh37]
ChrX:Xp11.23 |
benign |
| NM_006579.3(EBP):c.182G>A (p.Trp61Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145924] |
ChrX:48523953 [GRCh38]
ChrX:48382341 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.204G>T (p.Trp68Cys) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145925] |
ChrX:48523975 [GRCh38]
ChrX:48382363 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.214T>C (p.Cys72Arg) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145926] |
ChrX:48523985 [GRCh38]
ChrX:48382373 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.218G>A (p.Gly73Glu) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145927] |
ChrX:48523989 [GRCh38]
ChrX:48382377 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.292_296del (p.Ser98fs) |
deletion |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145928] |
ChrX:48524062..48524066 [GRCh38]
ChrX:48382450..48382454 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.299T>C (p.Leu100Pro) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145929] |
ChrX:48524070 [GRCh38]
ChrX:48382458 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.301+2T>A |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145930] |
ChrX:48524074 [GRCh38]
ChrX:48382462 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.303G>T (p.Trp101Cys) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145931] |
ChrX:48526990 [GRCh38]
ChrX:48385378 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.304A>T (p.Lys102Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145932] |
ChrX:48526991 [GRCh38]
ChrX:48385379 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.310T>C (p.Tyr104His) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145933] |
ChrX:48526997 [GRCh38]
ChrX:48385385 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.311A>G (p.Tyr104Cys) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145934] |
ChrX:48526998 [GRCh38]
ChrX:48385386 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.314C>A (p.Ala105Asp) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145935] |
ChrX:48527001 [GRCh38]
ChrX:48385389 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.320G>A (p.Gly107Glu) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145936] |
ChrX:48527007 [GRCh38]
ChrX:48385395 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.328C>T (p.Arg110Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145937] |
ChrX:48527015 [GRCh38]
ChrX:48385403 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.331T>C (p.Tyr111His) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145938] |
ChrX:48527018 [GRCh38]
ChrX:48385406 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.382C>T (p.Leu128=) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145939]|not provided [RCV000882695]|not specified [RCV000594172] |
ChrX:48527198 [GRCh38]
ChrX:48385586 [GRCh37]
ChrX:Xp11.23 |
benign|uncertain significance |
| NM_006579.3(EBP):c.462_463CT[1] (p.Ser155fs) |
microsatellite |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145940] |
ChrX:48527277..48527278 [GRCh38]
ChrX:48385665..48385666 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145941] |
ChrX:48528244 [GRCh38]
ChrX:48386632 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.481G>A (p.Gly161Arg) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145942] |
ChrX:48528245 [GRCh38]
ChrX:48386633 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145943]|not provided [RCV000171436]|not specified [RCV000439113] |
ChrX:48528275 [GRCh38]
ChrX:48386663 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006579.3(EBP):c.527A>G (p.His176Arg) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145944] |
ChrX:48528291 [GRCh38]
ChrX:48386679 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.632T>G (p.Leu211Arg) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145945] |
ChrX:48528396 [GRCh38]
ChrX:48386784 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.684_686GAA[1] (p.Lys229del) |
microsatellite |
Chondrodysplasia punctata 2 X-linked dominant [RCV000145946] |
ChrX:48528446..48528448 [GRCh38]
ChrX:48386834..48386836 [GRCh37]
ChrX:Xp11.23 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 |
copy number loss |
See cases [RCV000134568] |
ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 |
copy number loss |
See cases [RCV000134026] |
ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 |
copy number loss |
See cases [RCV000135305] |
ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22 |
pathogenic |
| GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 |
copy number gain |
See cases [RCV000134956] |
ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 |
copy number gain |
See cases [RCV000134957] |
ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 |
copy number gain |
See cases [RCV000135801] |
ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 |
copy number gain |
See cases [RCV000135958] |
ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 |
copy number loss |
See cases [RCV000137112] |
ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 |
copy number gain |
See cases [RCV000136829] |
ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 |
copy number loss |
See cases [RCV000137430] |
ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 |
copy number loss |
See cases [RCV000137552] |
ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 |
copy number loss |
See cases [RCV000137413] |
ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 |
copy number loss |
See cases [RCV000137166] |
ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23 |
pathogenic |
| GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 |
copy number gain |
See cases [RCV000137137] |
ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3 |
pathogenic|likely benign |
| GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 |
copy number gain |
See cases [RCV000137271] |
ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23 |
likely pathogenic |
| GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 |
copy number gain |
See cases [RCV000138106] |
ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22 |
pathogenic|likely pathogenic |
| GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 |
copy number loss |
See cases [RCV000138107] |
ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 |
copy number loss |
See cases [RCV000139343] |
ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 |
copy number loss |
See cases [RCV000139352] |
ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31 |
pathogenic |
| GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 |
copy number gain |
See cases [RCV000139185] |
ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_006579.3(EBP):c.13G>A (p.Ala5Thr) |
single nucleotide variant |
not specified [RCV000203041] |
ChrX:48523784 [GRCh38]
ChrX:48382172 [GRCh37]
ChrX:Xp11.23 |
benign |
| GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 |
copy number loss |
See cases [RCV000140711] |
ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 |
copy number loss |
See cases [RCV000141741] |
ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 |
copy number gain |
See cases [RCV000141567] |
ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 |
copy number loss |
See cases [RCV000142334] |
ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 |
copy number loss |
See cases [RCV000142035] |
ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 |
copy number loss |
See cases [RCV000143348] |
ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 |
copy number loss |
See cases [RCV000143130] |
ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_006579.3(EBP):c.201_203dup (p.Cys67dup) |
duplication |
Chondrodysplasia punctata 2 X-linked dominant [RCV000192563] |
ChrX:48523969..48523970 [GRCh38]
ChrX:48382357..48382358 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) |
indel |
Chondrodysplasia punctata 2 X-linked dominant [RCV000192822] |
ChrX:48527185..48527195 [GRCh38]
ChrX:48385573..48385583 [GRCh37]
ChrX:Xp11.23 |
likely pathogenic |
| EBP, TRP47CYS |
variation |
MEND SYNDROME [RCV000190980]|MEND syndrome [RCV000190980] |
|
pathogenic |
| NM_006579.3(EBP):c.33C>A (p.Tyr11Ter) |
single nucleotide variant |
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL [RCV000190981]|Chondrodysplasia punctata 2, X-linked dominant, atypical [RCV000190981] |
ChrX:48523804 [GRCh38]
ChrX:48382192 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.139T>C (p.Trp47Arg) |
single nucleotide variant |
MEND SYNDROME [RCV000190983]|MEND syndrome [RCV000190983] |
ChrX:48523910 [GRCh38]
ChrX:48382298 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.224T>A (p.Ile75Asn) |
single nucleotide variant |
MEND SYNDROME [RCV000190982]|MEND syndrome [RCV000190982] |
ChrX:48523995 [GRCh38]
ChrX:48382383 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) |
indel |
Chondrodysplasia punctata 2 X-linked dominant [RCV000193635] |
ChrX:48527239..48527243 [GRCh38]
ChrX:48385627..48385631 [GRCh37]
ChrX:Xp11.23 |
pathogenic|likely pathogenic |
| NM_006579.3(EBP):c.225dup (p.His76fs) |
duplication |
Chondrodysplasia punctata 2 X-linked dominant [RCV000193764] |
ChrX:48523994..48523995 [GRCh38]
ChrX:48382382..48382383 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) |
duplication |
Chondrodysplasia punctata 2 X-linked dominant [RCV000194606] |
ChrX:48527015..48527016 [GRCh38]
ChrX:48385403..48385404 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.484dup (p.Asp162fs) |
duplication |
Chondrodysplasia punctata 2 X-linked dominant [RCV000194874] |
ChrX:48528244..48528245 [GRCh38]
ChrX:48386632..48386633 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 |
copy number loss |
See cases [RCV000239814] |
ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 |
copy number loss |
See cases [RCV000203435] |
ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22 |
pathogenic|uncertain significance |
| NM_006579.3(EBP):c.439C>T (p.Arg147Cys) |
single nucleotide variant |
not provided [RCV000255335] |
ChrX:48527255 [GRCh38]
ChrX:48385643 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.512G>A (p.Arg171His) |
single nucleotide variant |
not provided [RCV000757204] |
ChrX:48528276 [GRCh38]
ChrX:48386664 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| NM_006579.3(EBP):c.445A>G (p.Ile149Val) |
single nucleotide variant |
not provided [RCV000757205] |
ChrX:48527261 [GRCh38]
ChrX:48385649 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 |
copy number gain |
See cases [RCV000240019] |
ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_006579.3(EBP):c.301+5G>C |
single nucleotide variant |
not specified [RCV000254310] |
ChrX:48524077 [GRCh38]
ChrX:48382465 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.23(chrX:48336513-48554390)x2 |
copy number gain |
See cases [RCV000240388] |
ChrX:48336513..48554390 [GRCh37]
ChrX:Xp11.23 |
uncertain significance |
| GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25 |
uncertain significance |
| NM_006579.3(EBP):c.219G>A (p.Gly73=) |
single nucleotide variant |
not provided [RCV000585107] |
ChrX:48523990 [GRCh38]
ChrX:48382378 [GRCh37]
ChrX:Xp11.23 |
uncertain significance |
| NM_006579.3(EBP):c.-43del |
deletion |
not specified [RCV000599703] |
ChrX:48523712 [GRCh38]
ChrX:48382100 [GRCh37]
ChrX:Xp11.23 |
benign |
| NM_006579.3(EBP):c.419T>G (p.Phe140Cys) |
single nucleotide variant |
not provided [RCV000722921] |
ChrX:48527235 [GRCh38]
ChrX:48385623 [GRCh37]
ChrX:Xp11.23 |
uncertain significance |
| Single allele |
duplication |
MECP2 duplication syndrome [RCV000768455] |
ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 |
copy number gain |
See cases [RCV000449147] |
ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 |
copy number loss |
See cases [RCV000446584] |
ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 |
copy number loss |
See cases [RCV000447092] |
ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 |
copy number loss |
See cases [RCV000447470] |
ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.23(chrX:48300928-48578333)x3 |
copy number gain |
See cases [RCV000447325] |
ChrX:48300928..48578333 [GRCh37]
ChrX:Xp11.23 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 |
copy number gain |
See cases [RCV000447617] |
ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_006579.3(EBP):c.-19G>A |
single nucleotide variant |
not specified [RCV000434734] |
ChrX:48523753 [GRCh38]
ChrX:48382141 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_006579.3(EBP):c.-49T>C |
single nucleotide variant |
not specified [RCV000437590] |
ChrX:48523723 [GRCh38]
ChrX:48382111 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 |
copy number loss |
See cases [RCV000447773] |
ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 |
copy number loss |
See cases [RCV000512136] |
ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| NM_006579.3(EBP):c.128_140del (p.Val43fs) |
deletion |
not provided [RCV000487135] |
ChrX:48523898..48523910 [GRCh38]
ChrX:48382286..48382298 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 |
copy number loss |
See cases [RCV000510437] |
ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 |
copy number loss |
See cases [RCV000511615] |
ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 |
copy number loss |
See cases [RCV000512022] |
ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 |
copy number loss |
See cases [RCV000512026] |
ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1 |
pathogenic |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_006579.3(EBP):c.-74+3G>C |
single nucleotide variant |
not specified [RCV000507998] |
ChrX:48521910 [GRCh38]
ChrX:48380298 [GRCh37]
ChrX:Xp11.23 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 |
copy number gain |
See cases [RCV000511234] |
ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 |
copy number loss |
See cases [RCV000510822] |
ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) |
copy number loss |
See cases [RCV000512142] |
ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3 |
pathogenic |
| GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 |
copy number gain |
See cases [RCV000512224] |
ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 |
copy number gain |
See cases [RCV000512561] |
ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 |
copy number loss |
See cases [RCV000512339] |
ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 |
copy number loss |
not provided [RCV000684331] |
ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22 |
pathogenic |
| GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 |
copy number gain |
not provided [RCV000684261] |
ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 |
copy number loss |
not provided [RCV000753274] |
ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22 |
pathogenic |
| GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 |
copy number loss |
not provided [RCV000753535] |
ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 |
copy number loss |
not provided [RCV000753275] |
ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| Single allele |
duplication |
Autistic disorder of childhood onset [RCV000754365] |
ChrX:1..156040895 [GRCh38] |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3 |
pathogenic |
| NM_006579.3(EBP):c.278A>G (p.Asp93Gly) |
single nucleotide variant |
not provided [RCV000762632] |
ChrX:48524049 [GRCh38]
ChrX:48382437 [GRCh37]
ChrX:Xp11.23 |
uncertain significance |
| NM_006579.3(EBP):c.129C>T (p.Val43=) |
single nucleotide variant |
not provided [RCV000899660] |
ChrX:48523900 [GRCh38]
ChrX:48382288 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| NM_006579.3(EBP):c.336C>T (p.Ile112=) |
single nucleotide variant |
not provided [RCV000944637] |
ChrX:48527023 [GRCh38]
ChrX:48385411 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) |
copy number gain |
not provided [RCV000767648] |
ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_006579.3(EBP):c.435C>T (p.Pro145=) |
single nucleotide variant |
not provided [RCV000978398] |
ChrX:48527251 [GRCh38]
ChrX:48385639 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| NM_006579.3(EBP):c.282A>C (p.Gln94His) |
single nucleotide variant |
not provided [RCV000942566] |
ChrX:48524053 [GRCh38]
ChrX:48382441 [GRCh37]
ChrX:Xp11.23 |
benign |
| NM_006579.3(EBP):c.396C>A (p.Leu132=) |
single nucleotide variant |
not provided [RCV000894965] |
ChrX:48527212 [GRCh38]
ChrX:48385600 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| NM_006579.3(EBP):c.414C>T (p.Ile138=) |
single nucleotide variant |
not provided [RCV000937852] |
ChrX:48527230 [GRCh38]
ChrX:48385618 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 |
copy number loss |
See cases [RCV000790583] |
ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22 |
pathogenic |
| NM_006579.3(EBP):c.666C>T (p.Ala222=) |
single nucleotide variant |
not provided [RCV000891808] |
ChrX:48528430 [GRCh38]
ChrX:48386818 [GRCh37]
ChrX:Xp11.23 |
likely benign |
| 46,Y,inv(X)(p21.1q13.3) |
inversion |
Elevated serum creatine phosphokinase [RCV000856573] |
ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3 |
likely pathogenic |
| NM_006579.3(EBP):c.504_505AG[1] (p.Glu169fs) |
microsatellite |
Chondrodysplasia punctata 2 X-linked dominant [RCV000990809] |
ChrX:48528268..48528269 [GRCh38]
ChrX:48386656..48386657 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 |
copy number loss |
not provided [RCV000845670] |
ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.23(chrX:48182541-48630992)x3 |
copy number gain |
not provided [RCV000848540] |
ChrX:48182541..48630992 [GRCh37]
ChrX:Xp11.23 |
uncertain significance |
| NM_006579.3(EBP):c.301+154C>T |
single nucleotide variant |
not provided [RCV000840424] |
ChrX:48524226 [GRCh38]
ChrX:48382614 [GRCh37]
ChrX:Xp11.23 |
benign |
| NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000990808] |
ChrX:48524032 [GRCh38]
ChrX:48382420 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 |
copy number loss |
not provided [RCV000846273] |
ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1 |
pathogenic |
| GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 |
copy number gain |
not provided [RCV000847795] |
ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22 |
pathogenic |
| NM_006579.3(EBP):c.329G>A (p.Arg110Gln) |
single nucleotide variant |
Chondrodysplasia punctata 2 X-linked dominant [RCV000995763] |
ChrX:48527016 [GRCh38]
ChrX:48385404 [GRCh37]
ChrX:Xp11.23 |
pathogenic |
| NM_006579.3(EBP):c.564C>T (p.Tyr188=) |
single nucleotide variant |
not provided [RCV000913625] |
ChrX:48528328 [GRCh38]
ChrX:48386716 [GRCh37]
ChrX:Xp11.23 |
likely benign |
Gene-Chemical Interaction Annotations
