| NM_001001557.4(GDF6):c.96GTC[1] (p.Ser34del) |
microsatellite |
Klippel-Feil syndrome 1, autosomal dominant [RCV000548440] |
Chr8:96160592..96160594 [GRCh38]
Chr8:97172820..97172822 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002513180]|Leber congenital amaurosis 17 [RCV000054524]|Microphthalmia, isolated, with coloboma 6 [RCV000023075] |
Chr8:96145336 [GRCh38]
Chr8:97157564 [GRCh37]
Chr8:8q22.1 |
pathogenic|uncertain significance |
| NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001255227]|GDF6-related disorder [RCV003934812]|Isolated microphthalmia 4 [RCV000008877]|Klippel-Feil syndrome 1, autosomal dominant [RCV000008876]|Klippel-Feil syndrome 1, autosomal dominant [RCV001255226]|Klippel-Feil syndrome 1, autosomal dominant [RCV001522988]|Klippel-Feil syndrome [RCV000353571]|Leber congenital amaurosis 17 [RCV000054424]|Retinal dystrophy [RCV004814864]|not provided [RCV000767010]|not specified [RCV000428033] |
Chr8:96145185 [GRCh38]
Chr8:97157413 [GRCh37]
Chr8:8q22.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) |
single nucleotide variant |
GDF6-related disorder [RCV003952350]|Klippel-Feil syndrome 1, autosomal dominant [RCV000008878]|Klippel-Feil syndrome 1, autosomal dominant [RCV001399723]|not provided [RCV000255695] |
Chr8:96145065 [GRCh38]
Chr8:97157293 [GRCh37]
Chr8:8q22.1 |
pathogenic|likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000008879]|Klippel-Feil syndrome 1, autosomal dominant [RCV000984889]|Klippel-Feil syndrome 1, autosomal dominant [RCV001429590]|Klippel-Feil syndrome [RCV000287766]|Leber congenital amaurosis 17 [RCV003152588] |
Chr8:96144660 [GRCh38]
Chr8:97156888 [GRCh37]
Chr8:8q22.1 |
pathogenic|likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000008880]|Klippel-Feil syndrome 1, autosomal dominant [RCV001486135] |
Chr8:96160568 [GRCh38]
Chr8:97172796 [GRCh37]
Chr8:8q22.1 |
pathogenic|likely benign |
| NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu) |
single nucleotide variant |
Isolated microphthalmia 4 [RCV000008881]|Klippel-Feil syndrome 1, autosomal dominant [RCV001851750] |
Chr8:96145173 [GRCh38]
Chr8:97157401 [GRCh37]
Chr8:8q22.1 |
pathogenic|uncertain significance |
| NM_001001557.4(GDF6):c.980C>A (p.Pro327His) |
single nucleotide variant |
Isolated microphthalmia 4 [RCV000008882]|Klippel-Feil syndrome 1, autosomal dominant [RCV001514645] |
Chr8:96144951 [GRCh38]
Chr8:97157179 [GRCh37]
Chr8:8q22.1 |
pathogenic|benign |
| NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp) |
single nucleotide variant |
Leber congenital amaurosis 17 [RCV000054425] |
Chr8:96145055 [GRCh38]
Chr8:97157283 [GRCh37]
Chr8:8q22.1 |
pathogenic |
| NM_001001557.4(GDF6):c.169G>C (p.Asp57His) |
single nucleotide variant |
GDF6-related disorder [RCV004757958]|Klippel-Feil syndrome 1, autosomal dominant [RCV001337031]|Klippel-Feil syndrome 1, autosomal dominant [RCV001853075]|Leber congenital amaurosis 17 [RCV000054426]|not provided [RCV001753472] |
Chr8:96160524 [GRCh38]
Chr8:97172752 [GRCh37]
Chr8:8q22.1 |
pathogenic|likely pathogenic|uncertain significance |
| 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 8q22.1-24.3(chr8:95606052-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] |
Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3 |
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 8q22.1(chr8:92755532-97792132)x1 |
copy number loss |
See cases [RCV000054278] |
Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1 |
pathogenic |
| GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1 |
copy number loss |
See cases [RCV000054279] |
Chr8:96065893..97276981 [GRCh38]
Chr8:97078121..98289209 [GRCh37]
Chr8:97147297..98358385 [NCBI36]
Chr8:8q22.1 |
pathogenic |
| GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 |
copy number gain |
See cases [RCV002292707] |
Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 |
copy number gain |
See cases [RCV000134353] |
Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 |
copy number gain |
See cases [RCV000135621] |
Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23 |
pathogenic|likely 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 8q21.3-24.3(chr8:87931152-145068712)x3 |
copy number gain |
See cases [RCV000138551] |
Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 |
copy number gain |
See cases [RCV000139036] |
Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3 |
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 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 8q21.13-24.3(chr8:78614077-145054634)x3 |
copy number gain |
See cases [RCV000142597] |
Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3 |
pathogenic |
| 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 |
| GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 |
copy number gain |
See cases [RCV000143659] |
Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.73C>T (p.Gln25Ter) |
single nucleotide variant |
not provided [RCV000224148] |
Chr8:96160620 [GRCh38]
Chr8:97172848 [GRCh37]
Chr8:8q22.1 |
likely pathogenic |
| NM_001001557.4(GDF6):c.407-40C>G |
single nucleotide variant |
not provided [RCV001668448]|not specified [RCV000246618] |
Chr8:96145564 [GRCh38]
Chr8:97157792 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.936G>C (p.Ser312=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000311743]|Klippel-Feil syndrome 1, autosomal dominant [RCV000535826]|not provided [RCV001723843]|not specified [RCV000251566] |
Chr8:96144995 [GRCh38]
Chr8:97157223 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.255G>T (p.Pro85=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000324689]|Klippel-Feil syndrome 1, autosomal dominant [RCV000647352]|Klippel-Feil syndrome 1, autosomal dominant [RCV002494717]|not specified [RCV000247047] |
Chr8:96160438 [GRCh38]
Chr8:97172666 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.406+28C>A |
single nucleotide variant |
not provided [RCV001651141]|not specified [RCV000252001] |
Chr8:96160259 [GRCh38]
Chr8:97172487 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.407-39C>T |
single nucleotide variant |
not provided [RCV001594895]|not specified [RCV000243271] |
Chr8:96145563 [GRCh38]
Chr8:97157791 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*165C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000321487] |
Chr8:96144398 [GRCh38]
Chr8:97156626 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*2122C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000302702] |
Chr8:96142441 [GRCh38]
Chr8:97154669 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000346691]|Klippel-Feil syndrome 1, autosomal dominant [RCV002523706] |
Chr8:96144698 [GRCh38]
Chr8:97156926 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*271_*272insC |
insertion |
Klippel-Feil syndrome [RCV000369646]|not provided [RCV001568245] |
Chr8:96144291..96144292 [GRCh38]
Chr8:97156519..97156520 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*767T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000372296] |
Chr8:96143796 [GRCh38]
Chr8:97156024 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*1429_*1430del |
deletion |
Klippel-Feil syndrome [RCV000324936] |
Chr8:96143133..96143134 [GRCh38]
Chr8:97155361..97155362 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.*1671C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000272103] |
Chr8:96142892 [GRCh38]
Chr8:97155120 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*144G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000376167]|not provided [RCV001653742] |
Chr8:96144419 [GRCh38]
Chr8:97156647 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.870C>T (p.Phe290=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000352502]|Klippel-Feil syndrome 1, autosomal dominant [RCV000953858]|not provided [RCV004705472] |
Chr8:96145061 [GRCh38]
Chr8:97157289 [GRCh37]
Chr8:8q22.1 |
benign|likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*1084C>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000275750]|not provided [RCV004712651] |
Chr8:96143479 [GRCh38]
Chr8:97155707 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001027714]|Klippel-Feil syndrome 1, autosomal dominant [RCV001044903] |
Chr8:96144627 [GRCh38]
Chr8:97156855 [GRCh37]
Chr8:8q22.1 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001001557.4(GDF6):c.852C>G (p.Ser284=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000404111]|Klippel-Feil syndrome 1, autosomal dominant [RCV000878364]|not provided [RCV001637002] |
Chr8:96145079 [GRCh38]
Chr8:97157307 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.957C>A (p.Ala319=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000404155]|Klippel-Feil syndrome 1, autosomal dominant [RCV002058750] |
Chr8:96144974 [GRCh38]
Chr8:97157202 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*998G>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000333225]|not provided [RCV004712652] |
Chr8:96143565 [GRCh38]
Chr8:97155793 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*2216C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000405054] |
Chr8:96142347 [GRCh38]
Chr8:97154575 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.*2001A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000359679]|not provided [RCV004712649] |
Chr8:96142562 [GRCh38]
Chr8:97154790 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*891G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000385433] |
Chr8:96143672 [GRCh38]
Chr8:97155900 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*842T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000295464] |
Chr8:96143721 [GRCh38]
Chr8:97155949 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*2195C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000360690]|not provided [RCV004712648] |
Chr8:96142368 [GRCh38]
Chr8:97154596 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.742C>A (p.Arg248Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000263471] |
Chr8:96145189 [GRCh38]
Chr8:97157417 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*268G>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000316114]|not provided [RCV004696096] |
Chr8:96144295 [GRCh38]
Chr8:97156523 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000264823]|Klippel-Feil syndrome 1, autosomal dominant [RCV000878422]|not provided [RCV004705473] |
Chr8:96160337 [GRCh38]
Chr8:97172565 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*172A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000280426]|not provided [RCV004712655] |
Chr8:96144391 [GRCh38]
Chr8:97156619 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*1090G>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000363253]|not provided [RCV004712650] |
Chr8:96143473 [GRCh38]
Chr8:97155701 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*2214C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000298939] |
Chr8:96142349 [GRCh38]
Chr8:97154577 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*781G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000317694] |
Chr8:96143782 [GRCh38]
Chr8:97156010 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*28G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000341628] |
Chr8:96144535 [GRCh38]
Chr8:97156763 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*711G>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000282404] |
Chr8:96143852 [GRCh38]
Chr8:97156080 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.*380A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000283520]|not provided [RCV004712654] |
Chr8:96144183 [GRCh38]
Chr8:97156411 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.741G>A (p.Ala247=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000300187] |
Chr8:96145190 [GRCh38]
Chr8:97157418 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*577A>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000393130]|not provided [RCV004712653] |
Chr8:96143986 [GRCh38]
Chr8:97156214 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*2170A>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000393340] |
Chr8:96142393 [GRCh38]
Chr8:97154621 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.*271_*272insCTC |
insertion |
Klippel-Feil syndrome [RCV000260930]|not provided [RCV001545653] |
Chr8:96144291..96144292 [GRCh38]
Chr8:97156519..97156520 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004021200]|Klippel-Feil syndrome 1, autosomal dominant [RCV001239678]|not provided [RCV000344156] |
Chr8:96145206 [GRCh38]
Chr8:97157434 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*276T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000273672] |
Chr8:96144287 [GRCh38]
Chr8:97156515 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*273CT[20] |
microsatellite |
Klippel-Feil syndrome [RCV000362793]|not provided [RCV004696095] |
Chr8:96144245..96144250 [GRCh38]
Chr8:97156473..97156478 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*268_*275delinsCTTT |
indel |
Klippel-Feil syndrome [RCV000333643] |
Chr8:96144288..96144295 [GRCh38]
Chr8:97156516..97156523 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*321_*322del |
deletion |
Klippel-Feil syndrome [RCV000404882] |
Chr8:96144241..96144242 [GRCh38]
Chr8:97156469..97156470 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*272_*278del |
deletion |
Klippel-Feil syndrome [RCV000368272] |
Chr8:96144285..96144291 [GRCh38]
Chr8:97156513..97156519 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*320_*321insCTTT |
insertion |
Klippel-Feil syndrome [RCV000308068] |
Chr8:96144242..96144243 [GRCh38]
Chr8:97156470..97156471 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*653C>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000337456] |
Chr8:96143910 [GRCh38]
Chr8:97156138 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*58G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000286664] |
Chr8:96144505 [GRCh38]
Chr8:97156733 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*280T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000308954] |
Chr8:96144283 [GRCh38]
Chr8:97156511 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004022085]|Klippel-Feil syndrome 1, autosomal dominant [RCV000298662]|Klippel-Feil syndrome 1, autosomal dominant [RCV001861334]|not provided [RCV001200311]|not specified [RCV004689724] |
Chr8:96145161 [GRCh38]
Chr8:97157389 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NC_000008.11:g.96142320C>G |
single nucleotide variant |
Klippel-Feil syndrome [RCV000273386] |
Chr8:96142320 [GRCh38]
Chr8:97154548 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.*249G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000374918] |
Chr8:96144314 [GRCh38]
Chr8:97156542 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*322_*323insTT |
insertion |
Klippel-Feil syndrome [RCV000343011] |
Chr8:96144240..96144241 [GRCh38]
Chr8:97156468..97156469 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.499C>T (p.Arg167Trp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000359608] |
Chr8:96145432 [GRCh38]
Chr8:97157660 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*288T>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000396971] |
Chr8:96144275 [GRCh38]
Chr8:97156503 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1330T>A (p.Tyr444Asn) |
single nucleotide variant |
Multiple synostoses syndrome 4 [RCV000585781] |
Chr8:96144601 [GRCh38]
Chr8:97156829 [GRCh37]
Chr8:8q22.1 |
pathogenic |
| NM_001001557.4(GDF6):c.*868C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001169766] |
Chr8:96143695 [GRCh38]
Chr8:97155923 [GRCh37]
Chr8:8q22.1 |
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 8q21.3-24.3(chr8:93047482-141355635)x3 |
copy number gain |
See cases [RCV000511761] |
Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3 |
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 |
| GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 |
copy number gain |
See cases [RCV000511002] |
Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 |
copy number gain |
See cases [RCV000510854] |
Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) |
single nucleotide variant |
Multiple synostoses syndrome 4 [RCV000585760] |
Chr8:96144644 [GRCh38]
Chr8:97156872 [GRCh37]
Chr8:8q22.1 |
pathogenic|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 8q21.2-23.3(chr8:86841154-116518125)x3 |
copy number gain |
not provided [RCV000683045] |
Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3 |
pathogenic |
| GRCh37/hg19 8q22.1(chr8:96468763-98522743)x1 |
copy number loss |
not provided [RCV000683017] |
Chr8:96468763..98522743 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| 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 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.*1781G>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167303] |
Chr8:96142782 [GRCh38]
Chr8:97155010 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.407-5C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167440]|Klippel-Feil syndrome 1, autosomal dominant [RCV001397145] |
Chr8:96145529 [GRCh38]
Chr8:97157757 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.24C>G (p.Leu8=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000878606]|Klippel-Feil syndrome 1, autosomal dominant [RCV001168054]|not provided [RCV003432863] |
Chr8:96160669 [GRCh38]
Chr8:97172897 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.435A>G (p.Arg145=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002065744] |
Chr8:96145496 [GRCh38]
Chr8:97157724 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.246G>T (p.Ala82=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001463554] |
Chr8:96160447 [GRCh38]
Chr8:97172675 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004031758]|Klippel-Feil syndrome 1, autosomal dominant [RCV001055413] |
Chr8:96160470 [GRCh38]
Chr8:97172698 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.27G>A (p.Ser9=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001049407] |
Chr8:96160666 [GRCh38]
Chr8:97172894 [GRCh37]
Chr8:8q22.1 |
likely benign|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_001001557.4(GDF6):c.428T>C (p.Leu143Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001058520] |
Chr8:96145503 [GRCh38]
Chr8:97157731 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) |
indel |
Klippel-Feil syndrome 1, autosomal dominant [RCV001038033] |
Chr8:96144928..96144929 [GRCh38]
Chr8:97157156..97157157 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.460A>G (p.Met154Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001036566] |
Chr8:96145471 [GRCh38]
Chr8:97157699 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3 |
copy number gain |
Leri pleonosteosis [RCV000856633] |
Chr8:97154645..98155535 [GRCh37]
Chr8:8q22.1 |
pathogenic |
| NM_001001557.4(GDF6):c.924C>A (p.Gly308=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002539407] |
Chr8:96145007 [GRCh38]
Chr8:97157235 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.406+112T>C |
single nucleotide variant |
not provided [RCV000841159] |
Chr8:96160175 [GRCh38]
Chr8:97172403 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.716A>G (p.Glu239Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004032895]|Klippel-Feil syndrome 1, autosomal dominant [RCV001167438] |
Chr8:96145215 [GRCh38]
Chr8:97157443 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*1138G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167900] |
Chr8:96143425 [GRCh38]
Chr8:97155653 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*271T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167977] |
Chr8:96144292 [GRCh38]
Chr8:97156520 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*647C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165790] |
Chr8:96143916 [GRCh38]
Chr8:97156144 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*1083C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167901] |
Chr8:96143480 [GRCh38]
Chr8:97155708 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*1043A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167903] |
Chr8:96143520 [GRCh38]
Chr8:97155748 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*405G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167371] |
Chr8:96144158 [GRCh38]
Chr8:97156386 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.90C>G (p.Ser30=) |
single nucleotide variant |
GDF6-related disorder [RCV003962938]|Klippel-Feil syndrome 1, autosomal dominant [RCV001486737] |
Chr8:96160603 [GRCh38]
Chr8:97172831 [GRCh37]
Chr8:8q22.1 |
likely benign |
| 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_001001557.4(GDF6):c.*1978G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167302]|not provided [RCV004712983] |
Chr8:96142585 [GRCh38]
Chr8:97154813 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.809G>A (p.Arg270Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001995146] |
Chr8:96145122 [GRCh38]
Chr8:97157350 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001226673] |
Chr8:96145075 [GRCh38]
Chr8:97157303 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001226959] |
Chr8:96160388 [GRCh38]
Chr8:97172616 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001238513] |
Chr8:96145173 [GRCh38]
Chr8:97157401 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001236307] |
Chr8:96160470 [GRCh38]
Chr8:97172698 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.604C>G (p.Leu202Val) |
single nucleotide variant |
not provided [RCV003159501] |
Chr8:96145327 [GRCh38]
Chr8:97157555 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.129G>A (p.Met43Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003273180] |
Chr8:96160564 [GRCh38]
Chr8:97172792 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*333G>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167372] |
Chr8:96144230 [GRCh38]
Chr8:97156458 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*2215G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165718] |
Chr8:96142348 [GRCh38]
Chr8:97154576 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*205T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167978] |
Chr8:96144358 [GRCh38]
Chr8:97156586 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*546G>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165792] |
Chr8:96144017 [GRCh38]
Chr8:97156245 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165863]|Klippel-Feil syndrome 1, autosomal dominant [RCV003769805] |
Chr8:96144976 [GRCh38]
Chr8:97157204 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165864]|Klippel-Feil syndrome 1, autosomal dominant [RCV001859071] |
Chr8:96145114 [GRCh38]
Chr8:97157342 [GRCh37]
Chr8:8q22.1 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274) |
copy number loss |
not provided [RCV003236711] |
Chr8:89179899..97978274 [GRCh37]
Chr8:8q21.3-22.1 |
pathogenic |
| NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003104694] |
Chr8:96160617 [GRCh38]
Chr8:97172845 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.407-300G>A |
single nucleotide variant |
not provided [RCV001550969] |
Chr8:96145824 [GRCh38]
Chr8:97158052 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.*271_*272insCTCTC |
insertion |
not provided [RCV001590897] |
Chr8:96144291..96144292 [GRCh38]
Chr8:97156519..97156520 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001255225]|GDF6-related disorder [RCV003955779]|Klippel-Feil syndrome 1, autosomal dominant [RCV000878637]|Klippel-Feil syndrome 1, autosomal dominant [RCV001168053]|not provided [RCV001358275] |
Chr8:96160581 [GRCh38]
Chr8:97172809 [GRCh37]
Chr8:8q22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001001557.4(GDF6):c.546G>A (p.Gly182=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002065458] |
Chr8:96145385 [GRCh38]
Chr8:97157613 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.75G>A (p.Gln25=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002066491] |
Chr8:96160618 [GRCh38]
Chr8:97172846 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.483G>T (p.Leu161=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV000952672]|not provided [RCV001726381]|not specified [RCV001700520] |
Chr8:96145448 [GRCh38]
Chr8:97157676 [GRCh37]
Chr8:8q22.1 |
benign|likely benign |
| NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001239642] |
Chr8:96160611 [GRCh38]
Chr8:97172839 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*725C>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165789] |
Chr8:96143838 [GRCh38]
Chr8:97156066 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001208908]|not provided [RCV004584864] |
Chr8:96145146 [GRCh38]
Chr8:97157374 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001037229] |
Chr8:96160526 [GRCh38]
Chr8:97172754 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*319A>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167373] |
Chr8:96144244 [GRCh38]
Chr8:97156472 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167437]|Klippel-Feil syndrome 1, autosomal dominant [RCV001873552] |
Chr8:96145188 [GRCh38]
Chr8:97157416 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.701G>A (p.Arg234Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167439] |
Chr8:96145230 [GRCh38]
Chr8:97157458 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001244088] |
Chr8:96160331 [GRCh38]
Chr8:97172559 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) |
microsatellite |
Klippel-Feil syndrome 1, autosomal dominant [RCV001244140] |
Chr8:96144926..96144927 [GRCh38]
Chr8:97157154..97157155 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1087T>A (p.Phe363Ile) |
single nucleotide variant |
Retinal dystrophy [RCV004814255] |
Chr8:96144844 [GRCh38]
Chr8:97157072 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NC_000008.11:g.96161051G>A |
single nucleotide variant |
not provided [RCV001715947] |
Chr8:96161051 [GRCh38]
Chr8:97173279 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.*271_*272insCTCTCTC |
insertion |
not provided [RCV001590718] |
Chr8:96144291..96144292 [GRCh38]
Chr8:97156519..97156520 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.*1441C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167899] |
Chr8:96143122 [GRCh38]
Chr8:97155350 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1251C>T (p.Pro417=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001168760] |
Chr8:96144680 [GRCh38]
Chr8:97156908 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.*908G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001169765] |
Chr8:96143655 [GRCh38]
Chr8:97155883 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.177C>A (p.Asp59Glu) |
single nucleotide variant |
not provided [RCV001589762] |
Chr8:96160516 [GRCh38]
Chr8:97172744 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004030747]|Klippel-Feil syndrome 1, autosomal dominant [RCV001070415]|not provided [RCV004693583] |
Chr8:96160371 [GRCh38]
Chr8:97172599 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.*734T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001169767] |
Chr8:96143829 [GRCh38]
Chr8:97156057 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001168052]|Klippel-Feil syndrome 1, autosomal dominant [RCV001228299] |
Chr8:96160443 [GRCh38]
Chr8:97172671 [GRCh37]
Chr8:8q22.1 |
benign|likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.18C>T (p.Val6=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001168055]|Klippel-Feil syndrome 1, autosomal dominant [RCV002067827] |
Chr8:96160675 [GRCh38]
Chr8:97172903 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.*1055G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167902] |
Chr8:96143508 [GRCh38]
Chr8:97155736 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001208636] |
Chr8:96145061 [GRCh38]
Chr8:97157289 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*106A>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001168757] |
Chr8:96144457 [GRCh38]
Chr8:97156685 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*27G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001168758] |
Chr8:96144536 [GRCh38]
Chr8:97156764 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1348G>A (p.Glu450Lys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001168759] |
Chr8:96144583 [GRCh38]
Chr8:97156811 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) |
single nucleotide variant |
GDF6-related disorder [RCV003953595]|Klippel-Feil syndrome 1, autosomal dominant [RCV001232658]|not provided [RCV003229029] |
Chr8:96145053 [GRCh38]
Chr8:97157281 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*529C>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165793] |
Chr8:96144034 [GRCh38]
Chr8:97156262 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003307813]|Klippel-Feil syndrome 1, autosomal dominant [RCV001038235] |
Chr8:96145116 [GRCh38]
Chr8:97157344 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002563772]|Klippel-Feil syndrome 1, autosomal dominant [RCV001232106] |
Chr8:96160440 [GRCh38]
Chr8:97172668 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*274T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167975]|not provided [RCV004695103] |
Chr8:96144289 [GRCh38]
Chr8:97156517 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*273C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167976]|not provided [RCV004695104] |
Chr8:96144290 [GRCh38]
Chr8:97156518 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.-86C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001168056] |
Chr8:96160778 [GRCh38]
Chr8:97173006 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8q22.1(chr8:96646399-98973327)x3 |
copy number gain |
not provided [RCV001006122] |
Chr8:96646399..98973327 [GRCh37]
Chr8:8q22.1 |
likely pathogenic |
| NM_001001557.4(GDF6):c.*620A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001165791] |
Chr8:96143943 [GRCh38]
Chr8:97156171 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.*2189T>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001167301] |
Chr8:96142374 [GRCh38]
Chr8:97154602 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001039307] |
Chr8:96145308 [GRCh38]
Chr8:97157536 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 |
copy number gain |
not provided [RCV001259019] |
Chr8:95803280..97802022 [GRCh37]
Chr8:8q22.1 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001326826] |
Chr8:96144702 [GRCh38]
Chr8:97156930 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001305806] |
Chr8:96160421 [GRCh38]
Chr8:97172649 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001298478] |
Chr8:96145035 [GRCh38]
Chr8:97157263 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001340264] |
Chr8:96145048 [GRCh38]
Chr8:97157276 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.703G>A (p.Ala235Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001362422] |
Chr8:96145228 [GRCh38]
Chr8:97157456 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001314222] |
Chr8:96160370 [GRCh38]
Chr8:97172598 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004036349]|Klippel-Feil syndrome 1, autosomal dominant [RCV001305381] |
Chr8:96160316 [GRCh38]
Chr8:97172544 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001298161] |
Chr8:96144621 [GRCh38]
Chr8:97156849 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003246886]|Klippel-Feil syndrome 1, autosomal dominant [RCV001327602]|not provided [RCV003132418] |
Chr8:96145203 [GRCh38]
Chr8:97157431 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.407-3C>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001414834] |
Chr8:96145527 [GRCh38]
Chr8:97157755 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001304780] |
Chr8:96145320 [GRCh38]
Chr8:97157548 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001364724] |
Chr8:96144574 [GRCh38]
Chr8:97156802 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.954C>T (p.Gly318=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001324004] |
Chr8:96144977 [GRCh38]
Chr8:97157205 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004629541]|Klippel-Feil syndrome 1, autosomal dominant [RCV001298384] |
Chr8:96145395 [GRCh38]
Chr8:97157623 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.31G>A (p.Val11Ile) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001361793] |
Chr8:96160662 [GRCh38]
Chr8:97172890 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001307223] |
Chr8:96160412 [GRCh38]
Chr8:97172640 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001347939]|not provided [RCV001573001] |
Chr8:96144609 [GRCh38]
Chr8:97156837 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.481C>G (p.Leu161Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001362300] |
Chr8:96145450 [GRCh38]
Chr8:97157678 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.764C>T (p.Pro255Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001373352] |
Chr8:96145167 [GRCh38]
Chr8:97157395 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001323731] |
Chr8:96145029 [GRCh38]
Chr8:97157257 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001337738] |
Chr8:96145300 [GRCh38]
Chr8:97157528 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001367996] |
Chr8:96160469 [GRCh38]
Chr8:97172697 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001871943]|not provided [RCV001357639] |
Chr8:96144687 [GRCh38]
Chr8:97156915 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1071G>A (p.Lys357=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001398897] |
Chr8:96144860 [GRCh38]
Chr8:97157088 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1254C>T (p.Ser418=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001485435] |
Chr8:96144677 [GRCh38]
Chr8:97156905 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.295C>T (p.Leu99=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001399047] |
Chr8:96160398 [GRCh38]
Chr8:97172626 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.225C>T (p.Pro75=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001471537] |
Chr8:96160468 [GRCh38]
Chr8:97172696 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.726C>T (p.Ala242=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001480927] |
Chr8:96145205 [GRCh38]
Chr8:97157433 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1140C>T (p.Ala380=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001489525] |
Chr8:96144791 [GRCh38]
Chr8:97157019 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.30C>A (p.Ala10=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001504746] |
Chr8:96160663 [GRCh38]
Chr8:97172891 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.201A>G (p.Pro67=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001460284] |
Chr8:96160492 [GRCh38]
Chr8:97172720 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.186G>C (p.Arg62=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001428730] |
Chr8:96160507 [GRCh38]
Chr8:97172735 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1302C>T (p.Asp434=) |
single nucleotide variant |
GDF6-related disorder [RCV003938689]|Klippel-Feil syndrome 1, autosomal dominant [RCV001406161] |
Chr8:96144629 [GRCh38]
Chr8:97156857 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.774G>C (p.Pro258=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001442816] |
Chr8:96145157 [GRCh38]
Chr8:97157385 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.606G>T (p.Leu202=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001502031] |
Chr8:96145325 [GRCh38]
Chr8:97157553 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.921G>C (p.Ala307=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001515881] |
Chr8:96145010 [GRCh38]
Chr8:97157238 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.406+109T>A |
single nucleotide variant |
not provided [RCV001679936] |
Chr8:96160178 [GRCh38]
Chr8:97172406 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.604C>T (p.Leu202=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001487336] |
Chr8:96145327 [GRCh38]
Chr8:97157555 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1293A>G (p.Leu431=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001481553] |
Chr8:96144638 [GRCh38]
Chr8:97156866 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.429C>T (p.Leu143=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001496225] |
Chr8:96145502 [GRCh38]
Chr8:97157730 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.948G>A (p.Pro316=) |
single nucleotide variant |
GDF6-related disorder [RCV003938740]|Klippel-Feil syndrome 1, autosomal dominant [RCV001427802] |
Chr8:96144983 [GRCh38]
Chr8:97157211 [GRCh37]
Chr8:8q22.1 |
likely benign |
| GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 |
copy number gain |
See cases [RCV002285066] |
Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.812C>T (p.Pro271Leu) |
single nucleotide variant |
not provided [RCV001767059] |
Chr8:96145119 [GRCh38]
Chr8:97157347 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001865187] |
Chr8:96160610 [GRCh38]
Chr8:97172838 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001874436] |
Chr8:96144753 [GRCh38]
Chr8:97156981 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001878231] |
Chr8:96145515 [GRCh38]
Chr8:97157743 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001878382] |
Chr8:96160593 [GRCh38]
Chr8:97172821 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.857G>A (p.Arg286His) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002012175] |
Chr8:96145074 [GRCh38]
Chr8:97157302 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002012567] |
Chr8:96144936 [GRCh38]
Chr8:97157164 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002014461] |
Chr8:96145284 [GRCh38]
Chr8:97157512 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.316T>A (p.Ser106Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002017524] |
Chr8:96160377 [GRCh38]
Chr8:97172605 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001866890] |
Chr8:96160454 [GRCh38]
Chr8:97172682 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.457_458delinsAA (p.Ser153Asn) |
indel |
Klippel-Feil syndrome 1, autosomal dominant [RCV001876414] |
Chr8:96145473..96145474 [GRCh38]
Chr8:97157701..97157702 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004631942]|Klippel-Feil syndrome 1, autosomal dominant [RCV002031583] |
Chr8:96144825 [GRCh38]
Chr8:97157053 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.707C>T (p.Ala236Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002016757] |
Chr8:96145224 [GRCh38]
Chr8:97157452 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002043908] |
Chr8:96144663 [GRCh38]
Chr8:97156891 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002030707] |
Chr8:96145225 [GRCh38]
Chr8:97157453 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001992598] |
Chr8:96145000 [GRCh38]
Chr8:97157228 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1081G>A (p.Val361Met) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002003107] |
Chr8:96144850 [GRCh38]
Chr8:97157078 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002016100] |
Chr8:96144969 [GRCh38]
Chr8:97157197 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser) |
indel |
Klippel-Feil syndrome 1, autosomal dominant [RCV002025454] |
Chr8:96145189..96145190 [GRCh38]
Chr8:97157417..97157418 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) |
copy number gain |
not specified [RCV002053772] |
Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002033765] |
Chr8:96144694 [GRCh38]
Chr8:97156922 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002028837] |
Chr8:96144625 [GRCh38]
Chr8:97156853 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.964G>A (p.Ala322Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002034453] |
Chr8:96144967 [GRCh38]
Chr8:97157195 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002045636] |
Chr8:96160568 [GRCh38]
Chr8:97172796 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.740C>A (p.Ala247Glu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002010881] |
Chr8:96145191 [GRCh38]
Chr8:97157419 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001998562] |
Chr8:96160395 [GRCh38]
Chr8:97172623 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.742C>T (p.Arg248Cys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002040204] |
Chr8:96145189 [GRCh38]
Chr8:97157417 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.123G>A (p.Lys41=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002040644] |
Chr8:96160570 [GRCh38]
Chr8:97172798 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.418C>G (p.His140Asp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002012113] |
Chr8:96145513 [GRCh38]
Chr8:97157741 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.245C>T (p.Ala82Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001906536] |
Chr8:96160448 [GRCh38]
Chr8:97172676 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.684G>C (p.Gln228His) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001938960] |
Chr8:96145247 [GRCh38]
Chr8:97157475 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.398G>A (p.Arg133Lys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001885002] |
Chr8:96160295 [GRCh38]
Chr8:97172523 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.1099G>A (p.Gly367Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001973506] |
Chr8:96144832 [GRCh38]
Chr8:97157060 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.10C>T (p.Pro4Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001974461] |
Chr8:96160683 [GRCh38]
Chr8:97172911 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.574C>T (p.Leu192Phe) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001888058] |
Chr8:96145357 [GRCh38]
Chr8:97157585 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.283C>T (p.His95Tyr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001984864] |
Chr8:96160410 [GRCh38]
Chr8:97172638 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.40A>G (p.Ile14Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001895599] |
Chr8:96160653 [GRCh38]
Chr8:97172881 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.544G>C (p.Gly182Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001982170] |
Chr8:96145387 [GRCh38]
Chr8:97157615 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001899382] |
Chr8:96144649 [GRCh38]
Chr8:97156877 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004631812]|Klippel-Feil syndrome 1, autosomal dominant [RCV001901583] |
Chr8:96144972 [GRCh38]
Chr8:97157200 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.881G>A (p.Arg294His) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001879435] |
Chr8:96145050 [GRCh38]
Chr8:97157278 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.460A>C (p.Met154Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001906718] |
Chr8:96145471 [GRCh38]
Chr8:97157699 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.923_928dup (p.306GA[3]) |
duplication |
Klippel-Feil syndrome 1, autosomal dominant [RCV001917999]|not specified [RCV004801082] |
Chr8:96145002..96145003 [GRCh38]
Chr8:97157230..97157231 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001947979] |
Chr8:96160292 [GRCh38]
Chr8:97172520 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1022G>A (p.Arg341His) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001926365] |
Chr8:96144909 [GRCh38]
Chr8:97157137 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.554A>C (p.His185Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004042109]|Klippel-Feil syndrome 1, autosomal dominant [RCV001952725]|not provided [RCV004694003] |
Chr8:96145377 [GRCh38]
Chr8:97157605 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001900234] |
Chr8:96144787 [GRCh38]
Chr8:97157015 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.643T>C (p.Phe215Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001931824] |
Chr8:96145288 [GRCh38]
Chr8:97157516 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.513G>A (p.Gln171=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001880323] |
Chr8:96145418 [GRCh38]
Chr8:97157646 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001881138]|Retinal dystrophy [RCV004815710] |
Chr8:96145230 [GRCh38]
Chr8:97157458 [GRCh37]
Chr8:8q22.1 |
benign|uncertain significance |
| NM_001001557.4(GDF6):c.619G>A (p.Ala207Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001943335] |
Chr8:96145312 [GRCh38]
Chr8:97157540 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001894733] |
Chr8:96144598 [GRCh38]
Chr8:97156826 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001897823] |
Chr8:96145474 [GRCh38]
Chr8:97157702 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001940313] |
Chr8:96160578 [GRCh38]
Chr8:97172806 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1080C>A (p.His360Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001923650] |
Chr8:96144851 [GRCh38]
Chr8:97157079 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001948143] |
Chr8:96145123 [GRCh38]
Chr8:97157351 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001965862] |
Chr8:96145518 [GRCh38]
Chr8:97157746 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.854A>T (p.Gln285Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001909345] |
Chr8:96145077 [GRCh38]
Chr8:97157305 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV001891122] |
Chr8:96160328 [GRCh38]
Chr8:97172556 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.420C>T (p.His140=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002210489] |
Chr8:96145511 [GRCh38]
Chr8:97157739 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.492G>C (p.Ala164=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002189272] |
Chr8:96145439 [GRCh38]
Chr8:97157667 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.700C>A (p.Arg234=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002108842] |
Chr8:96145231 [GRCh38]
Chr8:97157459 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002088397] |
Chr8:96145055 [GRCh38]
Chr8:97157283 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.407-20A>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002127236] |
Chr8:96145544 [GRCh38]
Chr8:97157772 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.393A>G (p.Val131=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002166896] |
Chr8:96160300 [GRCh38]
Chr8:97172528 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.213T>G (p.Pro71=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002190348] |
Chr8:96160480 [GRCh38]
Chr8:97172708 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.709T>C (p.Trp237Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002080694] |
Chr8:96145222 [GRCh38]
Chr8:97157450 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.207G>T (p.Pro69=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002133241] |
Chr8:96160486 [GRCh38]
Chr8:97172714 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.406+17A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002216234] |
Chr8:96160270 [GRCh38]
Chr8:97172498 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.583C>T (p.Leu195=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002092820] |
Chr8:96145348 [GRCh38]
Chr8:97157576 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.33C>T (p.Val11=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002094865] |
Chr8:96160660 [GRCh38]
Chr8:97172888 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.407-19A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002150782] |
Chr8:96145543 [GRCh38]
Chr8:97157771 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.378G>T (p.Thr126=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002212325] |
Chr8:96160315 [GRCh38]
Chr8:97172543 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.534G>T (p.Gly178=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002207476] |
Chr8:96145397 [GRCh38]
Chr8:97157625 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1194C>A (p.Thr398=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002133687] |
Chr8:96144737 [GRCh38]
Chr8:97156965 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.387C>T (p.Ser129=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002078276] |
Chr8:96160306 [GRCh38]
Chr8:97172534 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.612G>A (p.Pro204=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002212368] |
Chr8:96145319 [GRCh38]
Chr8:97157547 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.915G>A (p.Pro305=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002180640] |
Chr8:96145016 [GRCh38]
Chr8:97157244 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1173G>A (p.Leu391=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002216630] |
Chr8:96144758 [GRCh38]
Chr8:97156986 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.528C>T (p.Pro176=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002218636] |
Chr8:96145403 [GRCh38]
Chr8:97157631 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.594C>T (p.Asp198=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002098706] |
Chr8:96145337 [GRCh38]
Chr8:97157565 [GRCh37]
Chr8:8q22.1 |
likely benign |
| GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) |
copy number gain |
not provided [RCV002221452] |
Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.986_1005del (p.Pro329fs) |
deletion |
Klippel-Feil syndrome 1, autosomal dominant [RCV002226947] |
Chr8:96144926..96144945 [GRCh38]
Chr8:97157154..97157173 [GRCh37]
Chr8:8q22.1 |
likely pathogenic |
| NM_001001557.4(GDF6):c.157C>A (p.Arg53=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002218849] |
Chr8:96160536 [GRCh38]
Chr8:97172764 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.403C>T (p.Leu135=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002137730] |
Chr8:96160290 [GRCh38]
Chr8:97172518 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.832C>T (p.Leu278=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002082276] |
Chr8:96145099 [GRCh38]
Chr8:97157327 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.675C>T (p.Pro225=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002121253] |
Chr8:96145256 [GRCh38]
Chr8:97157484 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.258A>T (p.Pro86=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002102112] |
Chr8:96160435 [GRCh38]
Chr8:97172663 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.885G>A (p.Glu295=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002219593] |
Chr8:96145046 [GRCh38]
Chr8:97157274 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.903G>A (p.Glu301=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002197812] |
Chr8:96145028 [GRCh38]
Chr8:97157256 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.267T>C (p.Gly89=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002160437] |
Chr8:96160426 [GRCh38]
Chr8:97172654 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.642C>A (p.Val214=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002161296] |
Chr8:96145289 [GRCh38]
Chr8:97157517 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NC_000008.10:g.(?_97156791)_(97345794_?)dup |
duplication |
not provided [RCV003116767] |
Chr8:97156791..97345794 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NC_000008.10:g.(?_96037237)_(97345794_?)dup |
duplication |
Klippel-Feil syndrome 1, autosomal dominant [RCV003105388] |
Chr8:96037237..97345794 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.638A>C (p.Glu213Ala) |
single nucleotide variant |
not provided [RCV003233202] |
Chr8:96145293 [GRCh38]
Chr8:97157521 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002297394] |
Chr8:96145167 [GRCh38]
Chr8:97157395 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.648C>A (p.Asp216Glu) |
single nucleotide variant |
not provided [RCV003129057] |
Chr8:96145283 [GRCh38]
Chr8:97157511 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.724G>A (p.Ala242Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003259575] |
Chr8:96145207 [GRCh38]
Chr8:97157435 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004067608]|Klippel-Feil syndrome 1, autosomal dominant [RCV003775527]|not provided [RCV002473971] |
Chr8:96145387 [GRCh38]
Chr8:97157615 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 |
copy number gain |
not provided [RCV002474526] |
Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11 |
pathogenic |
| NM_001001557.4(GDF6):c.268C>T (p.Pro90Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002304380] |
Chr8:96160425 [GRCh38]
Chr8:97172653 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.958C>G (p.Pro320Ala) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002299777] |
Chr8:96144973 [GRCh38]
Chr8:97157201 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002972474] |
Chr8:96144837 [GRCh38]
Chr8:97157065 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.915G>C (p.Pro305=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003014165] |
Chr8:96145016 [GRCh38]
Chr8:97157244 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003011697] |
Chr8:96160574 [GRCh38]
Chr8:97172802 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.301A>G (p.Ile101Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002838228] |
Chr8:96160392 [GRCh38]
Chr8:97172620 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002972419] |
Chr8:96160358 [GRCh38]
Chr8:97172586 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.897G>C (p.Ser299=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002751612] |
Chr8:96145034 [GRCh38]
Chr8:97157262 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1122G>C (p.Ala374=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002882183] |
Chr8:96144809 [GRCh38]
Chr8:97157037 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003032805] |
Chr8:96160509 [GRCh38]
Chr8:97172737 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.534G>A (p.Gly178=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002730291] |
Chr8:96145397 [GRCh38]
Chr8:97157625 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1242C>T (p.Ser414=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002617289] |
Chr8:96144689 [GRCh38]
Chr8:97156917 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.246G>A (p.Ala82=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002861779] |
Chr8:96160447 [GRCh38]
Chr8:97172675 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.144A>G (p.Glu48=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002815867] |
Chr8:96160549 [GRCh38]
Chr8:97172777 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1116T>C (p.Ile372=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002882184] |
Chr8:96144815 [GRCh38]
Chr8:97157043 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.996G>T (p.Arg332=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002863597] |
Chr8:96144935 [GRCh38]
Chr8:97157163 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003055601] |
Chr8:96145249 [GRCh38]
Chr8:97157477 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002914207] |
Chr8:96145216 [GRCh38]
Chr8:97157444 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.363C>T (p.Ser121=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003078331] |
Chr8:96160330 [GRCh38]
Chr8:97172558 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.827C>G (p.Ala276Gly) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002740474] |
Chr8:96145104 [GRCh38]
Chr8:97157332 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002886688] |
Chr8:96145086 [GRCh38]
Chr8:97157314 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.765G>T (p.Pro255=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002998861] |
Chr8:96145166 [GRCh38]
Chr8:97157394 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.468A>G (p.Ser156=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003081397] |
Chr8:96145463 [GRCh38]
Chr8:97157691 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1011C>A (p.Ala337=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003036194] |
Chr8:96144920 [GRCh38]
Chr8:97157148 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.461T>C (p.Met154Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002999426] |
Chr8:96145470 [GRCh38]
Chr8:97157698 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.406+19G>T |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003053808] |
Chr8:96160268 [GRCh38]
Chr8:97172496 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002998905] |
Chr8:96145182 [GRCh38]
Chr8:97157410 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.897G>A (p.Ser299=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002621498] |
Chr8:96145034 [GRCh38]
Chr8:97157262 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1125C>G (p.Pro375=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002885688] |
Chr8:96144806 [GRCh38]
Chr8:97157034 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1212G>A (p.Gln404=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003053371] |
Chr8:96144719 [GRCh38]
Chr8:97156947 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.756C>T (p.Pro252=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002795242] |
Chr8:96145175 [GRCh38]
Chr8:97157403 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003080156] |
Chr8:96145212 [GRCh38]
Chr8:97157440 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003037299] |
Chr8:96160557 [GRCh38]
Chr8:97172785 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003035959] |
Chr8:96145482 [GRCh38]
Chr8:97157710 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003077583] |
Chr8:96145198 [GRCh38]
Chr8:97157426 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002913677] |
Chr8:96145315 [GRCh38]
Chr8:97157543 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1353G>C (p.Ser451=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003100367] |
Chr8:96144578 [GRCh38]
Chr8:97156806 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.725C>T (p.Ala242Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003036876] |
Chr8:96145206 [GRCh38]
Chr8:97157434 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.245C>A (p.Ala82Glu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002830100] |
Chr8:96160448 [GRCh38]
Chr8:97172676 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.406+15A>C |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002667705] |
Chr8:96160272 [GRCh38]
Chr8:97172500 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002933344] |
Chr8:96160571 [GRCh38]
Chr8:97172799 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003083293] |
Chr8:96160484 [GRCh38]
Chr8:97172712 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1365G>T (p.Arg455Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002765483] |
Chr8:96144566 [GRCh38]
Chr8:97156794 [GRCh37]
Chr8:8q22.1 |
likely benign|uncertain significance |
| NM_001001557.4(GDF6):c.399G>A (p.Arg133=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003040029]|not specified [RCV003988044] |
Chr8:96160294 [GRCh38]
Chr8:97172522 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003057021] |
Chr8:96144930 [GRCh38]
Chr8:97157158 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1038C>T (p.His346=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002624733] |
Chr8:96144893 [GRCh38]
Chr8:97157121 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002958737] |
Chr8:96145320 [GRCh38]
Chr8:97157548 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002876467] |
Chr8:96144999 [GRCh38]
Chr8:97157227 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1365G>A (p.Arg455=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002829574] |
Chr8:96144566 [GRCh38]
Chr8:97156794 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.454G>A (p.Val152Met) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002701540] |
Chr8:96145477 [GRCh38]
Chr8:97157705 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.487G>A (p.Gly163Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002742377] |
Chr8:96145444 [GRCh38]
Chr8:97157672 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1025A>G (p.His342Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002765375] |
Chr8:96144906 [GRCh38]
Chr8:97157134 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003023605] |
Chr8:96144981 [GRCh38]
Chr8:97157209 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1032G>A (p.Lys344=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002894163] |
Chr8:96144899 [GRCh38]
Chr8:97157127 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.168C>G (p.Arg56=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002623285] |
Chr8:96160525 [GRCh38]
Chr8:97172753 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.407-10dup |
duplication |
Klippel-Feil syndrome 1, autosomal dominant [RCV003082912] |
Chr8:96145533..96145534 [GRCh38]
Chr8:97157761..97157762 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.366G>A (p.Lys122=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003040301] |
Chr8:96160327 [GRCh38]
Chr8:97172555 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.252G>A (p.Glu84=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003045534] |
Chr8:96160441 [GRCh38]
Chr8:97172669 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.920C>T (p.Ala307Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003046617] |
Chr8:96145011 [GRCh38]
Chr8:97157239 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003031913] |
Chr8:96160345 [GRCh38]
Chr8:97172573 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.180G>A (p.Ala60=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002597412] |
Chr8:96160513 [GRCh38]
Chr8:97172741 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.861G>A (p.Lys287=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003044099] |
Chr8:96145070 [GRCh38]
Chr8:97157298 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003028686] |
Chr8:96160535 [GRCh38]
Chr8:97172763 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.627G>A (p.Pro209=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002810805] |
Chr8:96145304 [GRCh38]
Chr8:97157532 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002646488]|Klippel-Feil syndrome 1, autosomal dominant [RCV002646489] |
Chr8:96160474 [GRCh38]
Chr8:97172702 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.406+19G>A |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003046215] |
Chr8:96160268 [GRCh38]
Chr8:97172496 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1347G>A (p.Val449=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002899846] |
Chr8:96144584 [GRCh38]
Chr8:97156812 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002959161] |
Chr8:96144635 [GRCh38]
Chr8:97156863 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.407-9A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003087615] |
Chr8:96145533 [GRCh38]
Chr8:97157761 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003064200] |
Chr8:96160361 [GRCh38]
Chr8:97172589 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.549G>T (p.Pro183=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003091839] |
Chr8:96145382 [GRCh38]
Chr8:97157610 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.339C>T (p.Ile113=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002600994] |
Chr8:96160354 [GRCh38]
Chr8:97172582 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003086420] |
Chr8:96144985 [GRCh38]
Chr8:97157213 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002988523] |
Chr8:96145300 [GRCh38]
Chr8:97157528 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.131_132delinsTT (p.Arg44Leu) |
indel |
Klippel-Feil syndrome 1, autosomal dominant [RCV002791625] |
Chr8:96160561..96160562 [GRCh38]
Chr8:97172789..97172790 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.227G>A (p.Arg76Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002811525] |
Chr8:96160466 [GRCh38]
Chr8:97172694 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1146C>T (p.His382=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003093673] |
Chr8:96144785 [GRCh38]
Chr8:97157013 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004070206]|Klippel-Feil syndrome 1, autosomal dominant [RCV003066714] |
Chr8:96144919 [GRCh38]
Chr8:97157147 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003092258] |
Chr8:96160633 [GRCh38]
Chr8:97172861 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.406+11A>G |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002608982] |
Chr8:96160276 [GRCh38]
Chr8:97172504 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.774G>T (p.Pro258=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002611121] |
Chr8:96145157 [GRCh38]
Chr8:97157385 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.951G>T (p.Ser317=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003049959] |
Chr8:96144980 [GRCh38]
Chr8:97157208 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.598C>A (p.Arg200=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV002612410] |
Chr8:96145333 [GRCh38]
Chr8:97157561 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.478G>T (p.Glu160Ter) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV004790030] |
Chr8:96145453 [GRCh38]
Chr8:97157681 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.484G>A (p.Val162Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003193852] |
Chr8:96145447 [GRCh38]
Chr8:97157675 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.751G>A (p.Gly251Arg) |
single nucleotide variant |
not provided [RCV003227285] |
Chr8:96145180 [GRCh38]
Chr8:97157408 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1 |
copy number loss |
not provided [RCV003483032] |
Chr8:84127576..98263585 [GRCh37]
Chr8:8q21.13-22.1 |
pathogenic |
| GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 |
copy number gain |
not provided [RCV003484742] |
Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3 |
pathogenic |
| NM_001001557.4(GDF6):c.612G>T (p.Pro204=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003778444]|not provided [RCV003435563] |
Chr8:96145319 [GRCh38]
Chr8:97157547 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1008G>A (p.Thr336=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003793633]|not specified [RCV004690479] |
Chr8:96144923 [GRCh38]
Chr8:97157151 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003807292] |
Chr8:96144727 [GRCh38]
Chr8:97156955 [GRCh37]
Chr8:8q22.1 |
benign |
| NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003805388] |
Chr8:96160442 [GRCh38]
Chr8:97172670 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1179G>T (p.Ser393=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003789980] |
Chr8:96144752 [GRCh38]
Chr8:97156980 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.581C>A (p.Pro194His) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003792992] |
Chr8:96145350 [GRCh38]
Chr8:97157578 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003785504] |
Chr8:96145162 [GRCh38]
Chr8:97157390 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.603C>T (p.Thr201=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003784106] |
Chr8:96145328 [GRCh38]
Chr8:97157556 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.141G>A (p.Lys47=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003784048] |
Chr8:96160552 [GRCh38]
Chr8:97172780 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003785653] |
Chr8:96144981 [GRCh38]
Chr8:97157209 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.276G>A (p.Val92=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003806106] |
Chr8:96160417 [GRCh38]
Chr8:97172645 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.306C>T (p.Tyr102=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003806315] |
Chr8:96160387 [GRCh38]
Chr8:97172615 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003796910] |
Chr8:96145204 [GRCh38]
Chr8:97157432 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003807140] |
Chr8:96145158 [GRCh38]
Chr8:97157386 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.327G>A (p.Glu109=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003797700] |
Chr8:96160366 [GRCh38]
Chr8:97172594 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.1145A>T (p.His382Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003780299] |
Chr8:96144786 [GRCh38]
Chr8:97157014 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003795622] |
Chr8:96160667 [GRCh38]
Chr8:97172895 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003781898] |
Chr8:96145199 [GRCh38]
Chr8:97157427 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003786070] |
Chr8:96144717 [GRCh38]
Chr8:97156945 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.960G>A (p.Pro320=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003784977] |
Chr8:96144971 [GRCh38]
Chr8:97157199 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003805932] |
Chr8:96145164 [GRCh38]
Chr8:97157392 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003787750] |
Chr8:96144936 [GRCh38]
Chr8:97157164 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003780117] |
Chr8:96145176 [GRCh38]
Chr8:97157404 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.36C>T (p.Phe12=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003792556] |
Chr8:96160657 [GRCh38]
Chr8:97172885 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003784337] |
Chr8:96145306 [GRCh38]
Chr8:97157534 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003785362] |
Chr8:96145396 [GRCh38]
Chr8:97157624 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.19C>T (p.Leu7=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003794956] |
Chr8:96160674 [GRCh38]
Chr8:97172902 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003804565] |
Chr8:96160407 [GRCh38]
Chr8:97172635 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.273C>A (p.Arg91=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003787270] |
Chr8:96160420 [GRCh38]
Chr8:97172648 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003782155] |
Chr8:96160688 [GRCh38]
Chr8:97172916 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.942G>A (p.Pro314=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003790333] |
Chr8:96144989 [GRCh38]
Chr8:97157217 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003799922] |
Chr8:96160481 [GRCh38]
Chr8:97172709 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1248G>T (p.Pro416=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003808060] |
Chr8:96144683 [GRCh38]
Chr8:97156911 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004634356]|Klippel-Feil syndrome 1, autosomal dominant [RCV003799047] |
Chr8:96145051 [GRCh38]
Chr8:97157279 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003801357] |
Chr8:96145017 [GRCh38]
Chr8:97157245 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.855G>C (p.Gln285His) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003813238] |
Chr8:96145076 [GRCh38]
Chr8:97157304 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.432G>C (p.Arg144=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003799611] |
Chr8:96145499 [GRCh38]
Chr8:97157727 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003812339] |
Chr8:96145315 [GRCh38]
Chr8:97157543 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003798361] |
Chr8:96145207 [GRCh38]
Chr8:97157435 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003818042] |
Chr8:96145324 [GRCh38]
Chr8:97157552 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.72G>A (p.Gln24=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003798232] |
Chr8:96160621 [GRCh38]
Chr8:97172849 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003799362] |
Chr8:96160587 [GRCh38]
Chr8:97172815 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003800165] |
Chr8:96160464 [GRCh38]
Chr8:97172692 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.558G>A (p.Val186=) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003815648] |
Chr8:96145373 [GRCh38]
Chr8:97157601 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003798973] |
Chr8:96145113 [GRCh38]
Chr8:97157341 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg) |
single nucleotide variant |
Klippel-Feil syndrome 1, autosomal dominant [RCV003803859] |
Chr8:96160478 [GRCh38]
Chr8:97172706 [GRCh37]
Chr8:8q22.1 |
benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001001557.4(GDF6):c.996G>C (p.Arg332=) |
single nucleotide variant |
GDF6-related disorder [RCV003909853] |
Chr8:96144935 [GRCh38]
Chr8:97157163 [GRCh37]
Chr8:8q22.1 |
likely benign |
| NM_001001557.4(GDF6):c.734C>T (p.Ala245Val) |
single nucleotide variant |
GDF6-related disorder [RCV004758388] |
Chr8:96145197 [GRCh38]
Chr8:97157425 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.241C>G (p.Arg81Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004387603] |
Chr8:96160452 [GRCh38]
Chr8:97172680 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1100G>C (p.Gly367Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004387602] |
Chr8:96144831 [GRCh38]
Chr8:97157059 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.562C>A (p.Leu188Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004387604] |
Chr8:96145369 [GRCh38]
Chr8:97157597 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.123G>C (p.Lys41Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004626845] |
Chr8:96160570 [GRCh38]
Chr8:97172798 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1285A>G (p.Ser429Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004626846] |
Chr8:96144646 [GRCh38]
Chr8:97156874 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.1228A>C (p.Met410Leu) |
single nucleotide variant |
not provided [RCV004775758] |
Chr8:96144703 [GRCh38]
Chr8:97156931 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.759G>C (p.Gln253His) |
single nucleotide variant |
not provided [RCV004811030] |
Chr8:96145172 [GRCh38]
Chr8:97157400 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
| NM_001001557.4(GDF6):c.615G>C (p.Gln205His) |
single nucleotide variant |
not provided [RCV004761349] |
|
uncertain significance |
| NM_001001557.4(GDF6):c.928G>A (p.Glu310Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003357662] |
Chr8:96145003 [GRCh38]
Chr8:97157231 [GRCh37]
Chr8:8q22.1 |
uncertain significance |
