| NM_017813.5(BPNT2):c.529G>A (p.Asp177Asn) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000024085] |
Chr8:56980056 [GRCh38]
Chr8:57892615 [GRCh37]
Chr8:8q12.1 |
pathogenic |
| NM_017813.5(BPNT2):c.547A>C (p.Thr183Pro) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000024086] |
Chr8:56980038 [GRCh38]
Chr8:57892597 [GRCh37]
Chr8:8q12.1 |
pathogenic |
| NM_017813.5(BPNT2):c.559C>T (p.Arg187Ter) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000024087]|not provided [RCV000578745] |
Chr8:56978137 [GRCh38]
Chr8:57890696 [GRCh37]
Chr8:8q12.1 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1 |
copy number loss |
See cases [RCV000054240] |
Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1 |
pathogenic |
| GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1 |
copy number loss |
See cases [RCV000054241] |
Chr8:56925812..61691859 [GRCh38]
Chr8:57838371..62604418 [GRCh37]
Chr8:58000925..62766972 [NCBI36]
Chr8:8q12.1-12.3 |
pathogenic |
| GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 |
copy number gain |
See cases [RCV000133720] |
Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2 |
pathogenic |
| GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 |
copy number gain |
See cases [RCV000137672] |
Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 |
copy number gain |
See cases [RCV000139539] |
Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3 |
pathogenic |
| GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 |
copy number gain |
See cases [RCV000139582] |
Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1 |
pathogenic |
| GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 |
copy number loss |
See cases [RCV000140643] |
Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 |
copy number loss |
See cases [RCV000142642] |
Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 |
copy number loss |
See cases [RCV000143182] |
Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3 |
pathogenic |
| GRCh38/hg38 8q12.1(chr8:56220544-57002161)x3 |
copy number gain |
See cases [RCV000143778] |
Chr8:56220544..57002161 [GRCh38]
Chr8:57133103..57914720 [GRCh37]
Chr8:57295657..58077274 [NCBI36]
Chr8:8q12.1 |
uncertain significance |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017813.5(BPNT2):c.324del (p.Ser108fs) |
deletion |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000149814] |
Chr8:56993262 [GRCh38]
Chr8:57905821 [GRCh37]
Chr8:8q12.1 |
pathogenic|not provided |
| GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 |
copy number gain |
See cases [RCV000239428] |
Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3 |
pathogenic |
| NM_017813.5(BPNT2):c.*1651G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000267287] |
Chr8:56962142 [GRCh38]
Chr8:57874701 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*4123_*4125del |
deletion |
Chondrodysplasia [RCV000344038] |
Chr8:56959668..56959670 [GRCh38]
Chr8:57872227..57872229 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*2149G>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000369078] |
Chr8:56961644 [GRCh38]
Chr8:57874203 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*5300G>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000302295] |
Chr8:56958493 [GRCh38]
Chr8:57871052 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5492G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000345744] |
Chr8:56958301 [GRCh38]
Chr8:57870860 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*5512T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000396073] |
Chr8:56958281 [GRCh38]
Chr8:57870840 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*1018T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000396806] |
Chr8:56962775 [GRCh38]
Chr8:57875334 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000346686]|not provided [RCV001511209] |
Chr8:56964017 [GRCh38]
Chr8:57876576 [GRCh37]
Chr8:8q12.1 |
benign|uncertain significance |
| NM_017813.5(BPNT2):c.*4430A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000347386] |
Chr8:56959363 [GRCh38]
Chr8:57871922 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*5014A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000372040] |
Chr8:56958779 [GRCh38]
Chr8:57871338 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*2320ATA[1] |
microsatellite |
Chondrodysplasia [RCV000397618] |
Chr8:56961468..56961470 [GRCh38]
Chr8:57874027..57874029 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2181G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000397890] |
Chr8:56961612 [GRCh38]
Chr8:57874171 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*764C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000398710] |
Chr8:56963029 [GRCh38]
Chr8:57875588 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*2508T>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000287056] |
Chr8:56961285 [GRCh38]
Chr8:57873844 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*701C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000304392] |
Chr8:56963092 [GRCh38]
Chr8:57875651 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*3811GTCT[1] |
microsatellite |
Chondrodysplasia [RCV000304464] |
Chr8:56959975..56959978 [GRCh38]
Chr8:57872534..57872537 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5730A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000372532] |
Chr8:56958063 [GRCh38]
Chr8:57870622 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*1313del |
deletion |
Chondrodysplasia [RCV000373398] |
Chr8:56962480 [GRCh38]
Chr8:57875039 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5463G>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000399920] |
Chr8:56958330 [GRCh38]
Chr8:57870889 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2649C>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000271808] |
Chr8:56961144 [GRCh38]
Chr8:57873703 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.652G>T (p.Ala218Ser) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000288038]|Inborn genetic diseases [RCV003168570]|not provided [RCV003114516] |
Chr8:56966347 [GRCh38]
Chr8:57878906 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5395A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000305988] |
Chr8:56958398 [GRCh38]
Chr8:57870957 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2608A>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000326901] |
Chr8:56961185 [GRCh38]
Chr8:57873744 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*4209G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000289104] |
Chr8:56959584 [GRCh38]
Chr8:57872143 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*1343A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000376810] |
Chr8:56962450 [GRCh38]
Chr8:57875009 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*980del |
deletion |
Chondrodysplasia [RCV000307839] |
Chr8:56962813 [GRCh38]
Chr8:57875372 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*1220G>A |
single nucleotide variant |
Chondrodysplasia [RCV000352504] |
Chr8:56962573 [GRCh38]
Chr8:57875132 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2444A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000377932] |
Chr8:56961349 [GRCh38]
Chr8:57873908 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.939G>A (p.Gly313=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000291724]|not provided [RCV000904734] |
Chr8:56963934 [GRCh38]
Chr8:57876493 [GRCh37]
Chr8:8q12.1 |
benign|likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*5505A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000309608] |
Chr8:56958288 [GRCh38]
Chr8:57870847 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*2825C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000330368] |
Chr8:56960968 [GRCh38]
Chr8:57873527 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.988G>A (p.Gly330Ser) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000331187] |
Chr8:56963885 [GRCh38]
Chr8:57876444 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3673A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000401611] |
Chr8:56960120 [GRCh38]
Chr8:57872679 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*4496C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000292540] |
Chr8:56959297 [GRCh38]
Chr8:57871856 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2138A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000310813] |
Chr8:56961655 [GRCh38]
Chr8:57874214 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4890C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000332652] |
Chr8:56958903 [GRCh38]
Chr8:57871462 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.-169C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000355056]|not provided [RCV001672706] |
Chr8:56993754 [GRCh38]
Chr8:57906313 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*3258T>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000355632] |
Chr8:56960535 [GRCh38]
Chr8:57873094 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*358G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000355717] |
Chr8:56963435 [GRCh38]
Chr8:57875994 [GRCh37]
Chr8:8q12.1 |
benign|uncertain significance |
| NM_017813.5(BPNT2):c.*2607C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000381257] |
Chr8:56961186 [GRCh38]
Chr8:57873745 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4264G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000383304] |
Chr8:56959529 [GRCh38]
Chr8:57872088 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4973G>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000277645] |
Chr8:56958820 [GRCh38]
Chr8:57871379 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*1123C>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000294093] |
Chr8:56962670 [GRCh38]
Chr8:57875229 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2190G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000335356] |
Chr8:56961603 [GRCh38]
Chr8:57874162 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*501TGT[1] |
microsatellite |
Chondrodysplasia [RCV000359174] |
Chr8:56963287..56963289 [GRCh38]
Chr8:57875846..57875848 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.964G>A (p.Glu322Lys) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000385632]|not provided [RCV001521338] |
Chr8:56963909 [GRCh38]
Chr8:57876468 [GRCh37]
Chr8:8q12.1 |
benign|likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*5193A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000262429] |
Chr8:56958600 [GRCh38]
Chr8:57871159 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1276A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000278881] |
Chr8:56962517 [GRCh38]
Chr8:57875076 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*5327C>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000360700] |
Chr8:56958466 [GRCh38]
Chr8:57871025 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4845A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000386839] |
Chr8:56958948 [GRCh38]
Chr8:57871507 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2288G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000280157] |
Chr8:56961505 [GRCh38]
Chr8:57874064 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*3204A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000297243] |
Chr8:56960589 [GRCh38]
Chr8:57873148 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.-274G>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000315464] |
Chr8:56993859 [GRCh38]
Chr8:57906418 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*147C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000316096] |
Chr8:56963646 [GRCh38]
Chr8:57876205 [GRCh37]
Chr8:8q12.1 |
benign|uncertain significance |
| NM_017813.5(BPNT2):c.*5634A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000337838] |
Chr8:56958159 [GRCh38]
Chr8:57870718 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*2382A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000338771] |
Chr8:56961411 [GRCh38]
Chr8:57873970 [GRCh37]
Chr8:8q12.1 |
benign|uncertain significance |
| NM_017813.5(BPNT2):c.*1693A>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000361917] |
Chr8:56962100 [GRCh38]
Chr8:57874659 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*782G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000362468] |
Chr8:56963011 [GRCh38]
Chr8:57875570 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*5142G>T |
single nucleotide variant |
Chondrodysplasia [RCV000317367] |
Chr8:56958651 [GRCh38]
Chr8:57871210 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.-125C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000339710]|not provided [RCV001534968] |
Chr8:56993710 [GRCh38]
Chr8:57906269 [GRCh37]
Chr8:8q12.1 |
benign|likely benign |
| NM_017813.5(BPNT2):c.*3739C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000340114] |
Chr8:56960054 [GRCh38]
Chr8:57872613 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*70G>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000389175] |
Chr8:56963723 [GRCh38]
Chr8:57876282 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5302C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000265901] |
Chr8:56958491 [GRCh38]
Chr8:57871050 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*1314G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000318741] |
Chr8:56962479 [GRCh38]
Chr8:57875038 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2088A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000365464] |
Chr8:56961705 [GRCh38]
Chr8:57874264 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1338C>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000282365] |
Chr8:56962455 [GRCh38]
Chr8:57875014 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.-155C>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000300065] |
Chr8:56993740 [GRCh38]
Chr8:57906299 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3653C>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000300885] |
Chr8:56960140 [GRCh38]
Chr8:57872699 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*396A>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000319639] |
Chr8:56963397 [GRCh38]
Chr8:57875956 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.336G>A (p.Leu112=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000393313]|not provided [RCV001451373] |
Chr8:56993250 [GRCh38]
Chr8:57905809 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.-146A>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000393319] |
Chr8:56993731 [GRCh38]
Chr8:57906290 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*1960A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000270894] |
Chr8:56961833 [GRCh38]
Chr8:57874392 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5689dup |
duplication |
Chondrodysplasia [RCV000280405] |
Chr8:56958103..56958104 [GRCh38]
Chr8:57870662..57870663 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.-252G>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000260191] |
Chr8:56993837 [GRCh38]
Chr8:57906396 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3235A>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000260727] |
Chr8:56960558 [GRCh38]
Chr8:57873117 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*286_*288delinsTATGAGTCACCATTGACTCATTGTTATGAGT |
indel |
Chondrodysplasia [RCV000260806] |
Chr8:56963505..56963507 [GRCh38]
Chr8:57876064..57876066 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.-69CGG[7] |
microsatellite |
Chondrodysplasia [RCV000303470] |
Chr8:56993636..56993637 [GRCh38]
Chr8:57906195..57906196 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*413TC[1] |
microsatellite |
Chondrodysplasia [RCV000263933] |
Chr8:56963377..56963378 [GRCh38]
Chr8:57875936..57875937 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*14C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000275991] |
Chr8:56963779 [GRCh38]
Chr8:57876338 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2993C>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000276059] |
Chr8:56960800 [GRCh38]
Chr8:57873359 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2165C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000314338] |
Chr8:56961628 [GRCh38]
Chr8:57874187 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2141T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000399130] |
Chr8:56961652 [GRCh38]
Chr8:57874211 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.687C>T (p.Arg229=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000382640] |
Chr8:56966312 [GRCh38]
Chr8:57878871 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1084C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000347466] |
Chr8:56962709 [GRCh38]
Chr8:57875268 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2726T>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000384856] |
Chr8:56961067 [GRCh38]
Chr8:57873626 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2417C>T |
single nucleotide variant |
Chondrodysplasia [RCV000283679] |
Chr8:56961376 [GRCh38]
Chr8:57873935 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5804G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000295549] |
Chr8:56957989 [GRCh38]
Chr8:57870548 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5821C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000387574] |
Chr8:56957972 [GRCh38]
Chr8:57870531 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1620A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000322350] |
Chr8:56962173 [GRCh38]
Chr8:57874732 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5752G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000352879] |
Chr8:56958041 [GRCh38]
Chr8:57870600 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.-279T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000370183] |
Chr8:56993864 [GRCh38]
Chr8:57906423 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3193T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000370555] |
Chr8:56960600 [GRCh38]
Chr8:57873159 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2458G>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000323332] |
Chr8:56961335 [GRCh38]
Chr8:57873894 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1834A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000325866] |
Chr8:56961959 [GRCh38]
Chr8:57874518 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5203A>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000357226] |
Chr8:56958590 [GRCh38]
Chr8:57871149 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3876T>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000394648] |
Chr8:56959917 [GRCh38]
Chr8:57872476 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.355T>C (p.Tyr119His) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000343279] |
Chr8:56993231 [GRCh38]
Chr8:57905790 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1127_*1133del |
deletion |
Chondrodysplasia [RCV000396834] |
Chr8:56962660..56962666 [GRCh38]
Chr8:57875219..57875225 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.972_973del (p.Ser324fs) |
deletion |
not provided [RCV000598819] |
Chr8:56963900..56963901 [GRCh38]
Chr8:57876459..57876460 [GRCh37]
Chr8:8q12.1 |
likely pathogenic |
| GRCh37/hg19 8q12.1(chr8:57492825-58104912)x3 |
copy number gain |
See cases [RCV000449081] |
Chr8:57492825..58104912 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017813.5(BPNT2):c.745G>A (p.Val249Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003258230] |
Chr8:56966254 [GRCh38]
Chr8:57878813 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q12.1(chr8:57564454-57947475)x3 |
copy number gain |
not provided [RCV000747590] |
Chr8:57564454..57947475 [GRCh37]
Chr8:8q12.1 |
benign |
| GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 |
copy number loss |
not provided [RCV000747540] |
Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1 |
pathogenic |
| NM_017813.5(BPNT2):c.387+61C>G |
single nucleotide variant |
not provided [RCV001663180] |
Chr8:56993138 [GRCh38]
Chr8:57905697 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*929A>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001164039] |
Chr8:56962864 [GRCh38]
Chr8:57875423 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3 |
pathogenic |
| NM_017813.5(BPNT2):c.551-2A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV000778860] |
Chr8:56978147 [GRCh38]
Chr8:57890706 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.199C>T (p.Leu67=) |
single nucleotide variant |
not provided [RCV000922826] |
Chr8:56993387 [GRCh38]
Chr8:57905946 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.975C>T (p.Tyr325=) |
single nucleotide variant |
not provided [RCV000937761] |
Chr8:56963898 [GRCh38]
Chr8:57876457 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.138C>T (p.Gly46=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001164140] |
Chr8:56993448 [GRCh38]
Chr8:57906007 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.792C>T (p.Ile264=) |
single nucleotide variant |
not provided [RCV000898393] |
Chr8:56966207 [GRCh38]
Chr8:57878766 [GRCh37]
Chr8:8q12.1 |
likely benign |
| GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 |
copy number gain |
not provided [RCV000846266] |
Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3 |
pathogenic |
| NM_017813.5(BPNT2):c.*2475T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163957] |
Chr8:56961318 [GRCh38]
Chr8:57873877 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.-131C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001164143] |
Chr8:56993716 [GRCh38]
Chr8:57906275 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_017813.5(BPNT2):c.*5692A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001161935] |
Chr8:56958101 [GRCh38]
Chr8:57870660 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.560G>A (p.Arg187Gln) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001162121]|not provided [RCV001318372] |
Chr8:56978136 [GRCh38]
Chr8:57890695 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4251T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163562] |
Chr8:56959542 [GRCh38]
Chr8:57872101 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4037T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163566] |
Chr8:56959756 [GRCh38]
Chr8:57872315 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2630A>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163648] |
Chr8:56961163 [GRCh38]
Chr8:57873722 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| GRCh37/hg19 8q12.1(chr8:57699846-58315215)x1 |
copy number loss |
not provided [RCV000847683] |
Chr8:57699846..58315215 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4589A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158838] |
Chr8:56959204 [GRCh38]
Chr8:57871763 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4366G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160183] |
Chr8:56959427 [GRCh38]
Chr8:57871986 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4331G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160184] |
Chr8:56959462 [GRCh38]
Chr8:57872021 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2005G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160369] |
Chr8:56961788 [GRCh38]
Chr8:57874347 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1996C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160370] |
Chr8:56961797 [GRCh38]
Chr8:57874356 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3927T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163860] |
Chr8:56959866 [GRCh38]
Chr8:57872425 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3704A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163863] |
Chr8:56960089 [GRCh38]
Chr8:57872648 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*928G>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001164040] |
Chr8:56962865 [GRCh38]
Chr8:57875424 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.268C>T (p.Leu90Phe) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001164139] |
Chr8:56993318 [GRCh38]
Chr8:57905877 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.756C>A (p.Val252=) |
single nucleotide variant |
not provided [RCV003104490] |
Chr8:56966243 [GRCh38]
Chr8:57878802 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.43G>C (p.Val15Leu) |
single nucleotide variant |
not provided [RCV003233159] |
Chr8:56993543 [GRCh38]
Chr8:57906102 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.809-276A>G |
single nucleotide variant |
not provided [RCV001676406] |
Chr8:56964340 [GRCh38]
Chr8:57876899 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.808+313G>A |
single nucleotide variant |
not provided [RCV001653313] |
Chr8:56965878 [GRCh38]
Chr8:57878437 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.567C>T (p.Tyr189=) |
single nucleotide variant |
not provided [RCV000963910] |
Chr8:56978129 [GRCh38]
Chr8:57890688 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.840T>C (p.Pro280=) |
single nucleotide variant |
not provided [RCV000979220] |
Chr8:56964033 [GRCh38]
Chr8:57876592 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*4971C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158834] |
Chr8:56958822 [GRCh38]
Chr8:57871381 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4913G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158835] |
Chr8:56958880 [GRCh38]
Chr8:57871439 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3637C>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158935] |
Chr8:56960156 [GRCh38]
Chr8:57872715 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*3619A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158936] |
Chr8:56960174 [GRCh38]
Chr8:57872733 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3408A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158938] |
Chr8:56960385 [GRCh38]
Chr8:57872944 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5786T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001161934] |
Chr8:56958007 [GRCh38]
Chr8:57870566 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3922C>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163861] |
Chr8:56959871 [GRCh38]
Chr8:57872430 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.21C>T (p.Arg7=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001164141] |
Chr8:56993565 [GRCh38]
Chr8:57906124 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*553A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159131] |
Chr8:56963240 [GRCh38]
Chr8:57875799 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*461G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159132] |
Chr8:56963332 [GRCh38]
Chr8:57875891 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*133C>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159134] |
Chr8:56963660 [GRCh38]
Chr8:57876219 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2544G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163649] |
Chr8:56961249 [GRCh38]
Chr8:57873808 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3173C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160277] |
Chr8:56960620 [GRCh38]
Chr8:57873179 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3054C>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160279] |
Chr8:56960739 [GRCh38]
Chr8:57873298 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.1041C>T (p.Val347=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160485] |
Chr8:56963832 [GRCh38]
Chr8:57876391 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.954G>A (p.Leu318=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160487] |
Chr8:56963919 [GRCh38]
Chr8:57876478 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NC_000008.11:g.56994015T>A |
single nucleotide variant |
not provided [RCV001635993] |
Chr8:56994015 [GRCh38]
Chr8:57906574 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.647-79A>G |
single nucleotide variant |
not provided [RCV001653297] |
Chr8:56966431 [GRCh38]
Chr8:57878990 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*4434C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160181] |
Chr8:56959359 [GRCh38]
Chr8:57871918 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1952C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160372] |
Chr8:56961841 [GRCh38]
Chr8:57874400 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.987C>T (p.Asp329=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160486]|not provided [RCV002558520] |
Chr8:56963886 [GRCh38]
Chr8:57876445 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.*5803C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001161932] |
Chr8:56957990 [GRCh38]
Chr8:57870549 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5339T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163457] |
Chr8:56958454 [GRCh38]
Chr8:57871013 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4250A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163563] |
Chr8:56959543 [GRCh38]
Chr8:57872102 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4102A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163564] |
Chr8:56959691 [GRCh38]
Chr8:57872250 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3957C>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163567] |
Chr8:56959836 [GRCh38]
Chr8:57872395 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3505T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158937] |
Chr8:56960288 [GRCh38]
Chr8:57872847 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2512T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163650] |
Chr8:56961281 [GRCh38]
Chr8:57873840 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5160C>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163746] |
Chr8:56958633 [GRCh38]
Chr8:57871192 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2058C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159030] |
Chr8:56961735 [GRCh38]
Chr8:57874294 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2047T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159031] |
Chr8:56961746 [GRCh38]
Chr8:57874305 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2009C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159032] |
Chr8:56961784 [GRCh38]
Chr8:57874343 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4873G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158836] |
Chr8:56958920 [GRCh38]
Chr8:57871479 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4638T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001158837] |
Chr8:56959155 [GRCh38]
Chr8:57871714 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*106G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159135] |
Chr8:56963687 [GRCh38]
Chr8:57876246 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4315C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160185] |
Chr8:56959478 [GRCh38]
Chr8:57872037 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*3060T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160278] |
Chr8:56960733 [GRCh38]
Chr8:57873292 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2674G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160280] |
Chr8:56961119 [GRCh38]
Chr8:57873678 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1800G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160373] |
Chr8:56961993 [GRCh38]
Chr8:57874552 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.646+273del |
deletion |
not provided [RCV001694217] |
Chr8:56977777 [GRCh38]
Chr8:57890336 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*5797C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001161933] |
Chr8:56957996 [GRCh38]
Chr8:57870555 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*4098G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163565] |
Chr8:56959695 [GRCh38]
Chr8:57872254 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5289C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163745] |
Chr8:56958504 [GRCh38]
Chr8:57871063 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1652T>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001162027] |
Chr8:56962141 [GRCh38]
Chr8:57874700 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.738A>G (p.Ser246=) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001162119] |
Chr8:56966261 [GRCh38]
Chr8:57878820 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2166G>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163958] |
Chr8:56961627 [GRCh38]
Chr8:57874186 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.-16C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001164142] |
Chr8:56993601 [GRCh38]
Chr8:57906160 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*5354A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163456] |
Chr8:56958439 [GRCh38]
Chr8:57870998 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*2631A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163647] |
Chr8:56961162 [GRCh38]
Chr8:57873721 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.*447C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001159133] |
Chr8:56963346 [GRCh38]
Chr8:57875905 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3805C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163862] |
Chr8:56959988 [GRCh38]
Chr8:57872547 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*3679A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001163864] |
Chr8:56960114 [GRCh38]
Chr8:57872673 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*4501T>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160180] |
Chr8:56959292 [GRCh38]
Chr8:57871851 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*4403T>C |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160182] |
Chr8:56959390 [GRCh38]
Chr8:57871949 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1966A>G |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001160371] |
Chr8:56961827 [GRCh38]
Chr8:57874386 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.*5607C>A |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001161936] |
Chr8:56958186 [GRCh38]
Chr8:57870745 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.*1328C>T |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001162028] |
Chr8:56962465 [GRCh38]
Chr8:57875024 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.704A>G (p.Lys235Arg) |
single nucleotide variant |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001162120]|not provided [RCV002240738] |
Chr8:56966295 [GRCh38]
Chr8:57878854 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.493C>G (p.Pro165Ala) |
single nucleotide variant |
not provided [RCV001319356] |
Chr8:56980092 [GRCh38]
Chr8:57892651 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.333G>A (p.Val111=) |
single nucleotide variant |
not provided [RCV001433871] |
Chr8:56993253 [GRCh38]
Chr8:57905812 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.118G>A (p.Gly40Ser) |
single nucleotide variant |
not provided [RCV001297647] |
Chr8:56993468 [GRCh38]
Chr8:57906027 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.5C>A (p.Ala2Asp) |
single nucleotide variant |
not provided [RCV001361904] |
Chr8:56993581 [GRCh38]
Chr8:57906140 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.728G>A (p.Arg243His) |
single nucleotide variant |
not provided [RCV001309117] |
Chr8:56966271 [GRCh38]
Chr8:57878830 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.378dup (p.Ser127fs) |
duplication |
Chondrodysplasia with joint dislocations, GPAPP type [RCV001335866] |
Chr8:56993207..56993208 [GRCh38]
Chr8:57905766..57905767 [GRCh37]
Chr8:8q12.1 |
pathogenic |
| NM_017813.5(BPNT2):c.914A>G (p.Asn305Ser) |
single nucleotide variant |
not provided [RCV001360697] |
Chr8:56963959 [GRCh38]
Chr8:57876518 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.228C>A (p.Arg76=) |
single nucleotide variant |
not provided [RCV001396357] |
Chr8:56993358 [GRCh38]
Chr8:57905917 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.885C>T (p.Tyr295=) |
single nucleotide variant |
not provided [RCV001485946] |
Chr8:56963988 [GRCh38]
Chr8:57876547 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.550+76T>C |
single nucleotide variant |
not provided [RCV001695499] |
Chr8:56979959 [GRCh38]
Chr8:57892518 [GRCh37]
Chr8:8q12.1 |
benign |
| NM_017813.5(BPNT2):c.473_474dup (p.Thr159Ter) |
duplication |
Chondrodysplasia with joint dislocations, gPAPP type [RCV001507085] |
Chr8:56980110..56980111 [GRCh38]
Chr8:57892669..57892670 [GRCh37]
Chr8:8q12.1 |
pathogenic |
| NC_000008.10:g.(?_57876352)_(57906144_?)dup |
duplication |
not provided [RCV002238518] |
Chr8:57876352..57906144 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.810T>A (p.Gly270=) |
single nucleotide variant |
not provided [RCV002238744] |
Chr8:56964063 [GRCh38]
Chr8:57876622 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.747C>T (p.Val249=) |
single nucleotide variant |
not provided [RCV002238748] |
Chr8:56966252 [GRCh38]
Chr8:57878811 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.647-8del |
deletion |
not provided [RCV002238749] |
Chr8:56966360 [GRCh38]
Chr8:57878919 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.646+20T>C |
single nucleotide variant |
not provided [RCV002238750] |
Chr8:56978030 [GRCh38]
Chr8:57890589 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.646+16G>A |
single nucleotide variant |
not provided [RCV002238751] |
Chr8:56978034 [GRCh38]
Chr8:57890593 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.424G>A (p.Glu142Lys) |
single nucleotide variant |
not provided [RCV002238754] |
Chr8:56980161 [GRCh38]
Chr8:57892720 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.290A>G (p.Lys97Arg) |
single nucleotide variant |
not provided [RCV002238755] |
Chr8:56993296 [GRCh38]
Chr8:57905855 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.236A>C (p.Asp79Ala) |
single nucleotide variant |
not provided [RCV002238756] |
Chr8:56993350 [GRCh38]
Chr8:57905909 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.153G>A (p.Gly51=) |
single nucleotide variant |
not provided [RCV002238757] |
Chr8:56993433 [GRCh38]
Chr8:57905992 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NC_000008.10:g.(?_57905738)_(57906144_?)dup |
duplication |
not provided [RCV002238519] |
Chr8:57905738..57906144 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.808+17G>A |
single nucleotide variant |
not provided [RCV002238745] |
Chr8:56966174 [GRCh38]
Chr8:57878733 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.808+14C>T |
single nucleotide variant |
not provided [RCV002238746] |
Chr8:56966177 [GRCh38]
Chr8:57878736 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.766A>G (p.Thr256Ala) |
single nucleotide variant |
not provided [RCV002238747] |
Chr8:56966233 [GRCh38]
Chr8:57878792 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.551-18T>C |
single nucleotide variant |
not provided [RCV002238752] |
Chr8:56978163 [GRCh38]
Chr8:57890722 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.517A>G (p.Ile173Val) |
single nucleotide variant |
not provided [RCV002238753] |
Chr8:56980068 [GRCh38]
Chr8:57892627 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.152G>A (p.Gly51Glu) |
single nucleotide variant |
not provided [RCV002238758] |
Chr8:56993434 [GRCh38]
Chr8:57905993 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.120C>T (p.Gly40=) |
single nucleotide variant |
not provided [RCV002238759] |
Chr8:56993466 [GRCh38]
Chr8:57906025 [GRCh37]
Chr8:8q12.1 |
likely benign|uncertain significance |
| NM_017813.5(BPNT2):c.49T>G (p.Cys17Gly) |
single nucleotide variant |
not provided [RCV002238760] |
Chr8:56993537 [GRCh38]
Chr8:57906096 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.31C>G (p.Leu11Val) |
single nucleotide variant |
not provided [RCV002238761] |
Chr8:56993555 [GRCh38]
Chr8:57906114 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.6C>T (p.Ala2=) |
single nucleotide variant |
not provided [RCV002238762] |
Chr8:56993580 [GRCh38]
Chr8:57906139 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.1005C>A (p.Leu335=) |
single nucleotide variant |
not provided [RCV002239538] |
Chr8:56963868 [GRCh38]
Chr8:57876427 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.956G>A (p.Ser319Asn) |
single nucleotide variant |
not provided [RCV002239539] |
Chr8:56963917 [GRCh38]
Chr8:57876476 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.882A>G (p.Thr294=) |
single nucleotide variant |
not provided [RCV002239540] |
Chr8:56963991 [GRCh38]
Chr8:57876550 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.848G>A (p.Ser283Asn) |
single nucleotide variant |
not provided [RCV002239541] |
Chr8:56964025 [GRCh38]
Chr8:57876584 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.406G>A (p.Val136Met) |
single nucleotide variant |
not provided [RCV002239542] |
Chr8:56980179 [GRCh38]
Chr8:57892738 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.396T>G (p.Thr132=) |
single nucleotide variant |
not provided [RCV002239543] |
Chr8:56980189 [GRCh38]
Chr8:57892748 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.388-6A>C |
single nucleotide variant |
not provided [RCV002239544] |
Chr8:56980203 [GRCh38]
Chr8:57892762 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.388-10T>C |
single nucleotide variant |
not provided [RCV002239545] |
Chr8:56980207 [GRCh38]
Chr8:57892766 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.356A>G (p.Tyr119Cys) |
single nucleotide variant |
not provided [RCV002239546] |
Chr8:56993230 [GRCh38]
Chr8:57905789 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q12.1(chr8:57492825-58104912) |
copy number gain |
not specified [RCV002053764] |
Chr8:57492825..58104912 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NC_000008.10:g.(?_56854419)_(57906144_?)dup |
duplication |
not provided [RCV002020622] |
Chr8:56854419..57906144 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.84C>T (p.Tyr28=) |
single nucleotide variant |
not provided [RCV003115507] |
Chr8:56993502 [GRCh38]
Chr8:57906061 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NC_000008.10:g.(?_57876352)_(57906144_?)del |
deletion |
not provided [RCV003119799] |
Chr8:57876352..57906144 [GRCh37]
Chr8:8q12.1 |
pathogenic |
| NM_017813.5(BPNT2):c.230_250dup (p.Arg83_Val84insGlyGlyAspGluValArgArg) |
duplication |
Chondrodysplasia with joint dislocations, gPAPP type [RCV002283734] |
Chr8:56993335..56993336 [GRCh38]
Chr8:57905894..57905895 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.445A>G (p.Lys149Glu) |
single nucleotide variant |
not provided [RCV002975033] |
Chr8:56980140 [GRCh38]
Chr8:57892699 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.186C>G (p.Asp62Glu) |
single nucleotide variant |
not provided [RCV002637857] |
Chr8:56993400 [GRCh38]
Chr8:57905959 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.78C>T (p.His26=) |
single nucleotide variant |
not provided [RCV002620375] |
Chr8:56993508 [GRCh38]
Chr8:57906067 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.169G>T (p.Asp57Tyr) |
single nucleotide variant |
not provided [RCV002948536] |
Chr8:56993417 [GRCh38]
Chr8:57905976 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.154C>T (p.Pro52Ser) |
single nucleotide variant |
not provided [RCV002658569] |
Chr8:56993432 [GRCh38]
Chr8:57905991 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.422AGG[1] (p.Glu142del) |
microsatellite |
not provided [RCV003038521] |
Chr8:56980158..56980160 [GRCh38]
Chr8:57892717..57892719 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.211G>A (p.Val71Met) |
single nucleotide variant |
not provided [RCV002954123] |
Chr8:56993375 [GRCh38]
Chr8:57905934 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.833A>G (p.Asp278Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003167710]|not provided [RCV002765967] |
Chr8:56964040 [GRCh38]
Chr8:57876599 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.8C>T (p.Pro3Leu) |
single nucleotide variant |
not provided [RCV002890961] |
Chr8:56993578 [GRCh38]
Chr8:57906137 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.112C>G (p.Leu38Val) |
single nucleotide variant |
not provided [RCV002595347] |
Chr8:56993474 [GRCh38]
Chr8:57906033 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.727C>T (p.Arg243Cys) |
single nucleotide variant |
not provided [RCV002963405] |
Chr8:56966272 [GRCh38]
Chr8:57878831 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.568G>A (p.Val190Ile) |
single nucleotide variant |
not provided [RCV003089465] |
Chr8:56978128 [GRCh38]
Chr8:57890687 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.469G>C (p.Glu157Gln) |
single nucleotide variant |
not provided [RCV002938076] |
Chr8:56980116 [GRCh38]
Chr8:57892675 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.551-3_551-2del |
deletion |
not provided [RCV002629796] |
Chr8:56978147..56978148 [GRCh38]
Chr8:57890706..57890707 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.673A>G (p.Asn225Asp) |
single nucleotide variant |
not provided [RCV002966442] |
Chr8:56966326 [GRCh38]
Chr8:57878885 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.886A>G (p.Ile296Val) |
single nucleotide variant |
not provided [RCV002580762] |
Chr8:56963987 [GRCh38]
Chr8:57876546 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.310G>A (p.Asp104Asn) |
single nucleotide variant |
not provided [RCV002721336] |
Chr8:56993276 [GRCh38]
Chr8:57905835 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.377C>G (p.Pro126Arg) |
single nucleotide variant |
not provided [RCV002587053] |
Chr8:56993209 [GRCh38]
Chr8:57905768 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.917C>T (p.Ala306Val) |
single nucleotide variant |
not provided [RCV002610355] |
Chr8:56963956 [GRCh38]
Chr8:57876515 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.180C>T (p.Thr60=) |
single nucleotide variant |
not provided [RCV002608804] |
Chr8:56993406 [GRCh38]
Chr8:57905965 [GRCh37]
Chr8:8q12.1 |
likely benign |
| NM_017813.5(BPNT2):c.118_130dup (p.Glu44fs) |
duplication |
not provided [RCV002610674] |
Chr8:56993455..56993456 [GRCh38]
Chr8:57906014..57906015 [GRCh37]
Chr8:8q12.1 |
pathogenic |
| NM_017813.5(BPNT2):c.1054G>C (p.Asp352His) |
single nucleotide variant |
not provided [RCV002610877] |
Chr8:56963819 [GRCh38]
Chr8:57876378 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.939del (p.His314fs) |
deletion |
Chondrodysplasia with joint dislocations, gPAPP type [RCV003147777]|not provided [RCV002583792] |
Chr8:56963934 [GRCh38]
Chr8:57876493 [GRCh37]
Chr8:8q12.1 |
likely pathogenic|uncertain significance |
| NM_017813.5(BPNT2):c.484A>G (p.Lys162Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003197670] |
Chr8:56980101 [GRCh38]
Chr8:57892660 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.127G>T (p.Gly43Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003210361] |
Chr8:56993459 [GRCh38]
Chr8:57906018 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.305C>T (p.Ala102Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003310207] |
Chr8:56993281 [GRCh38]
Chr8:57905840 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.451C>G (p.Pro151Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003374653] |
Chr8:56980134 [GRCh38]
Chr8:57892693 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
| NM_017813.5(BPNT2):c.712A>G (p.Arg238Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003386274] |
Chr8:56966287 [GRCh38]
Chr8:57878846 [GRCh37]
Chr8:8q12.1 |
uncertain significance |
