Gene | Name of disorder | MIM No. | No. of case reported* | Mutation | Location | Type | Novel |
---|---|---|---|---|---|---|---|
ACVR1 | Fibrodysplasia ossificans progressiva (FOP) | 135100 | 2 | c.617 G > A (p.R206H) | exon 4 | missense | |
1 | c.1067 G > A (p.G356D) | exon 7 | missense | ||||
ALPL | Hypophosphatasia, infantile forms | 241500 | 1 | c.18delA and c.G407C (p.V7Yfs18X and p.R136P) | exon 2 and 5 | nonsense and missense | yes |
ALPL | Hypophosphatasia, adult form | 146300 | 1 | c.1366 G > A (p.G456R) | exon 12 | missense | |
1 | c.1581C > G (p.P446G) | exon 12 | missense | yes | |||
1 | c.583 G > A (p.R136H) | exon 5 | missense | ||||
CLCN5 | Dent’s disease | 300554 | 1 | p.L594fsX595 | exon 10 | nonsense | yes |
1 | p.R637X | exon 10 | nonsense | ||||
1 | p.R467X | exon 9 | nonsense | ||||
1 | p.IVS4-2A > G | exon 4 | splicing | yes | |||
1 | c.1022C > T (p.S244L) | exon 7 | missense | ||||
1 | c.1805 T > G (p.V505G) | exon 9 | missense | yes | |||
CLCN7 | Osteopetrosis, late-onset form type 2 (OPTA2) | 166600 | 1 | c.C856T (p.R286W) | exon 10 | missense | |
COL1A2 | Osteogenesis imperfecta | 1 | c.A3350G (p.Y1117C) | exon 49 | missense | ||
1 | c.G3305C (p.G1102A) | exon 49 | missense | ||||
COL1A1 | Osteogenesis imperfecta | 166220 | 1 | c.1678 G > A (p.G560S) | exon 25 | missense | |
166200 | 1 | p.Gly632x | exon 28 | nonsense | yes | ||
166200 | 1 | p.D1441H | exon 52 | missense | yes | ||
166200 | 1 | c.1875 + 1 G > A (IVS 27 + 1 G > A) | intron 27 | splicing | yes | ||
166200 | 1 | IVS8-2A > G | intron 8 | splicing | yes | ||
1 | c.2461 G > A (p.G821S) | exon 36 | missense | ||||
1 | c.3470 G > A (p.G1157D) | missense | yes | ||||
COL2A1 | Spondyloepiphyseal dysplasia congenita (SEDC) | 183900 | 1 | c.1510 G > A (p.G504S) | missense | ||
1 | c.2401 G > A (p.G801S) | missense | |||||
EFNB1 | Craniofrontonasal Syndrome | 304110 | 1 | c.161C > G (p.P54R) | exon 2 | missense | yes |
COMP | Pseudoachondroplasia | 177170 | 1 | c.815 T > C (p.L272P) | exon 8 | missense | |
EIF2AK3 | SED, Wolcott–Rallison type | 226980 | 1 | c.1408-1409insT and c.1596 T > A (p.S470FfsX7 and p.C532X) | exon 8 and 9 | nonsense | |
EXT1 | Multiple cartilaginous exostoses 1 | 133700 | 1 | c.1564-7delC | exon 7 | frameshift | yes |
1 | I8 + 2 T > G | intron 8 | splicing | yes | |||
1 | c.651_664delinsTTT (p.K218fsX220) | exon 1 | nonsense | ||||
1 | c.680delG (p.R227fs) | exon 1 | frameshift | ||||
1 | c.1182delG (p.Arg394SerfsX9) | exon 4 | nonsense | yes | |||
1 | c.1108 G > T (p.E370X) | exon 3 | nonsense | yes | |||
1 | c.335delA (p.Asn112ThrfsX24) | exon 1 | nonsense | yes | |||
1 | c.361C > T (p.Q121X) | exon 1 | nonsense | yes | |||
1 | c.1879_1881delCAC (p.His627del) | exon 9 | In frame deletion | yes | |||
1 | c.651_664delinsTTT (p.K218fsX220) | exon 1 | frameshift | ||||
1 | 1633-26(C > A) | intron 7 | splicing | ||||
1 | c.2120delT | exon 6 | frameshift | ||||
1 | c.811 T > C (p.Y271H) | exon 1 | missense | yes | |||
EXT2 | Multiple cartilaginous exostoses 2 | 133701 | 1 | c.668 G > C (p.Arg223Pro) | exon 2 | missense | |
1 | c.950delT (p.Phe317SerfsX15) | exon 6 | nonsense | yes | |||
3 | c.1016 G > A (p.Cys339Tyr) | exon 6 | missense | ||||
1 | c.398 T > G (p.L133R) | exon 2 | missense | ||||
1 | c.751C > T (p.Q251X) | exon 5 | missense | ||||
1 | c.544C > T (p.R182X) | exon 3 | missense | ||||
1 | c.536 G > A (p.Arg179Lys) | exon 2 | missense | ||||
1 | c.1006C > T (p.G1n336X) | exon 6 | nonsense | yes | |||
1 | IVS2 + 1 G > A | intron 2 | splicing | ||||
1 | IVS7 + 1 G > T | intron 7 | splicing | ||||
1 | c.789-796delTGTT | exon 5 | frameshift | yes | |||
1 | c.637 G > A | exon 4 | nonsense | ||||
1 | c.313A > T (p.Lys105X) | exon 2 | nonsense | ||||
1 | 319insGT | exon 2 | frameshift | ||||
1 | 536 + 1 G > A (IVS2 + 1 G > A) | intron 2 | splicing | ||||
FBN1 | Marfan syndrome | 154700 | 1 | c.3463 G > A (p.Asp1155Asn) | exon 27 | missense | yes |
1 | c.5015 G > C (p.C1672S) | exon 40 | missense | ||||
3 | c.5309 G > A (p.C1770Y) | exon 43 | missense | ||||
2 | c.7241 G > A (p.R2414Q) | exon 58 | missense | ||||
2 | c.7769 G > A (p.C2590Y) | exon 62 | missense | ||||
2 | c.2261A > G (p.Y754C) | exon 18 | missense | ||||
1 | c.[6862_6871delGGCTGTGTAG;6871 + 1_6871 + 11delGTAAGAGGATC] (p.Gly2288MetfsX109) | exon 55 | nonsense | yes | |||
1 | c.2462 G > A (p.Cys821Tyr) | exon 20 | missense | yes | |||
1 | c.5015 G > C (p.C1672S) | exon 40 | missense | ||||
1 | c.3295 G > T (p.E1099X) | exon 26 | nonsense | ||||
2 | c.4307insTCGT (p.G1441X) | exon 34 | nonsense | yes | |||
1 | c.4621C > T (p.R1541X) | exon 37 | nonsense | ||||
1 | c.8080C > T (p.A2694X) | exon 64 | nonsense | ||||
2 | IVS29 + 4A > T | intron 29 | splicing | ||||
1 | IVS50 + 1 G > A | intron 50 | splicing | ||||
1 | c.3069 G > T (p.Lys1023Asn) | exon 24 | missense | yes | |||
1 | c.3243-3256delGCCTCTGCACCCA | exon 25 | frameshift | ||||
FGFR1 | Pfeiffer syndrome | 101600 | 1 | c.755C > G (p.Pro252Arg) | exon 5 | missense | |
FGFR2 | Pfeiffer syndrome | 101600 | 1 | IVS8 A > G | exon 8 | splicing | |
1 | p.Asp321Ala | exon 9 | missense | ||||
Apert syndrome | 101200 | 1 | c.934C > G (p.S252W) | exon 7 | missense | ||
Crouzon syndrome | 123500 | 1 | c.833 G > T (p.C278F) | exon 8 | missense | ||
1 | p.Tyr340His | exon 9 | missense | ||||
1 | p.Cys342Trp | exon 9 | missense | yes | |||
1 | p.Cys342Tyr | exon 9 | missense | ||||
1 | p.Ala344Ala | exon 9 | missense | ||||
1 | p.Gly338Arg | exon 9 | missense | ||||
1 | p.Ala344Gly | exon 9 | missense | ||||
1 | p.Gln289Pro | exon 7 | missense | ||||
FGFR3 | Achondroplasia | 100800 | 21 | c.1138 G > A (p.G380R) | exon 10 | missense | |
1 | p.Ser217Cys | exon 5 | missense | ||||
FGFR3 | Thanatophoric dysplasia | 187600 | 1 | c.742C > T (p.R248C) | exon 7 | missense | |
GALNS | Mucopolysaccharidosis type 4A | 253000 | 1 | c.1567 T > G and c.374C > T | exon 14 and 4 | nonsense and missense | yes |
GDF5 | Multiple synostoses syndrome type 2 | 186500 | 2 | c.1471 G > A (p.E491K) | exon 2 | missense | |
GNAS1 | Albright hereditary osteodystrophy | 103580 | 1 | 1-bp (C) deletion at codon 291 | exon 11 | frameshift | |
HLXB9 | Currarino triad | 176450 | 2 | c.552C > G (p.Tyr184X) | nonsense | ||
TP63 | Split hand-foot malformation, isolated form, type 4 (SHFM4) | 605289 | 1 | c.956 G > A (p.R280H) | exon 7 | missense | |
HOXD13 | Synpolydactyly | 186000 | 1 | c.32 G > C (p.G11A) | exon 1 | missense | |
1 | c.64 G > T (p.A22S) | exon 1 | missense | yes | |||
3 | 9-residue polyalanine expansion | exon 1 | |||||
yes | |||||||
1 | 8-residue polyalanine expansion | exon 1 | |||||
1 | 7-residue polyalanine expansion | exon 1 | |||||
IDS | Mucopolysaccharidosis type 2 | 309900 | 1 | c.892C > T (p.Q298X) | exon 7 | nonsense | |
1 | c.1468delA | exon 9 | frameshift | ||||
1 | c.263 G > A (p.Arg88His) | exon 3 | missense | ||||
1 | 1103_1123del19 | exon 8 | frameshift | ||||
IHH | Brachydactyly type A1 | 112500 | 1 | c.G298A (p.D100N) | exon 1 | missense | |
NF1 | Neurofibromatosis type 1 | 162200 | 1 | c.1009 G > T | exon 7 | nonsense | yes |
1 | c.3443-3444delCA | exon 20 | frameshift | yes | |||
1 | c.4339C > T (p.G1336X) | nonsense | |||||
1 | c.5839C > T (p.R1947X) | exon 31 | nonsense | ||||
1 | p.Leu1141Arg | exon 20 | missense | ||||
TP63 | Ankyloblepharon-ectodermal dysplasia-cleft lip/palate | 106260 | 1 | c.838C > T (p.R280C) | exon 7 | missense | |
Limb-mammary syndrome (including ADULT syndrome) | 603273 | 1 | c.893 G > A (p.R298Q) | exon 8 | missense | ||
PHEX | Hypophosphatemic rickets, X-linked dominant | 307800 | 1 | IVS20-1 G > T | intron 20 | splicing | |
1 | c.1861C > T (p.GIn621X) | exon 18 | missense | yes | |||
PTPN11 | Baller–Gerold syndrome | 218600 | 1 | IVS11-1 G > A and c.3401A > T | intro 11 and exon 10 | splicing and nonsense | |
ROR2 | Brachydactyly type B | 113000 | 1 | c.2265C > A (p.Y755X) | exon 9 | nonsense | |
1 | c.1398-1399insA | exon 9 | nonsense | ||||
RUNX2 | Cleidocranial dysplasia | 119600 | 1 | c.346 T > A (p.W116R) | exon 1 | missense | |
1 | c.610A > T (p.K204X) | exon 3 | nonsense | ||||
1 | c.346 T > A (p.W116R) | exon 1 | missense | ||||
1 | c.475 G > C (p.G159R) | exon 2 | missense | yes | |||
1 | c.673C > T (p.R225W) | exon 3 | missense | ||||
1 | c.1171C > G (p.R391X) | exon 7 | nonsense | ||||
1 | c.674 G > A (p.R225Q) | exon 3 | missense | ||||
SALL1 | Townes–Brocks syndrome (Renal-Ear-Anal-Radial syndrome) | 107480 | 4 | c.1792 G > C | exon 2 | missense | |
SEDL | SED tarda, X-linked (SED-XL) | 313400 | 1 | c.218C > T (p.S73L) | exon 4 | missense | |
1 | c.370-371insA (p.S124fsX127) | exon 6 | nonsense | yes | |||
1 | c.218C > T (p.S73L) | exon 4 | missense | ||||
1 | c.239A > G (p.H80R) | exon 4 | missense | ||||
1 | c.G209A | exon 4 | nonsense | ||||
1 | c.262-266delGACAT | exon 5 | frameshift | ||||
1 | D109-S123del (p.S124fsX126) | intron 5-exon 6 | nonsense | ||||
1 | IVS5-2-1delAG322-332delTTTTCAATGAA | intron 5-exon 6 | splicing | yes | |||
1 | IVS2-2A > C | intron 2 | |||||
SH3BP2 | Cherubism | 118400 | 5 | c.1505 G > C (p.Arg415Pro) | exon 9 | missense | |
2 | c.G1520A (p.Gly420Glu) | exon 9 | missense | ||||
SHOX | Dyschondrosteosis | 127300 | 1 | c.115 T > G | exon 2 | ||
1 | c.1171-1172insA | exon 3 | frameshift | ||||
1 | c.996A > T (p.E102V) | exon 3 | missense | ||||
SOX9 | Campomelic dysplasia (CD) | 114290 | 1 | p.R178L | exon 2 | missense | yes |
TBX5 | Holt-Oram syndrome | 142900 | 1 | c.416delC | exon 4 | frameshift | |
1 | c.145C > A | exon 2 | missense | ||||
1 | c.161 T > C | exon 2 | missense | ||||
TGFbeta1 | Diaphyseal dysplasia Camurati-Engelmann | 131300 | 1 | p.R218H | exon 4 | missense | |
WISP3 | Progressive pseudorheumatoid dysplasia | 208230 | 1 | c.624-625insA and c.729-735delGAGAAAA | exon 4 and exon 4 | frameshift and frameshift | yes |
1 | c.624-625insA and c.866-867insA | exon 4 and exon 5 | frameshift and frameshift | yes | |||
1 | c.866_867insA and c.866-867insA | exon 5 and exon 5 | frameshift and frameshift | yes | |||
1 | c.589 + 2 T > C and c.624dupA | intro 3 and exon 4 | splicing and nonsense | yes |