| NM_000168.6(GLI3):c.1878del (p.Lys626fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000549394] |
Chr7:41972562 [GRCh38]
Chr7:42012161 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.211G>A (p.Val71Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000555251]|Greig cephalopolysyndactyly syndrome [RCV002490972]|not provided [RCV001704666]|not specified [RCV000610080] |
Chr7:42148382 [GRCh38]
Chr7:42187981 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NC_000007.14:g.(?_41960949)_(42264268_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000014824] |
Chr7:41960949..42264268 [GRCh38]
Chr7:7p14.1 |
pathogenic |
| GLI3, CODON 764, FS |
variation |
Polydactyly, postaxial, type A1 [RCV000014827] |
Chr7:7p13 |
pathogenic |
| NM_000168.6(GLI3):c.3707del (p.Gly1236fs) |
deletion |
Postaxial polydactyly, type A1/B [RCV000014830] |
Chr7:41965366 [GRCh38]
Chr7:42004964 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2372del (p.Pro791fs) |
deletion |
Postaxial polydactyly type B [RCV000014839] |
Chr7:41967655 [GRCh38]
Chr7:42007253 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4542_4545del (p.His1515fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000014844] |
Chr7:41964528..41964531 [GRCh38]
Chr7:42004126..42004129 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1018del (p.Ser340fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000014845] |
Chr7:42040048 [GRCh38]
Chr7:42079647 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4172del (p.Gly1391fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001450017]|Greig cephalopolysyndactyly syndrome [RCV001865919] |
Chr7:41964901 [GRCh38]
Chr7:42004499 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.366C>A (p.Tyr122Ter) |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV001450022] |
Chr7:42148227 [GRCh38]
Chr7:42187826 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2309C>T (p.Ala770Val) |
single nucleotide variant |
not provided [RCV000729769] |
Chr7:41967718 [GRCh38]
Chr7:42007316 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000530281]|not provided [RCV001580509] |
Chr7:41967721 [GRCh38]
Chr7:42007319 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.4564G>T (p.Ala1522Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000528896] |
Chr7:41964509 [GRCh38]
Chr7:42004107 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1076T>G (p.Met359Arg) |
single nucleotide variant |
not provided [RCV000518859] |
Chr7:42026365 [GRCh38]
Chr7:42065964 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.633A>G (p.Pro211=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002527694] |
Chr7:42048537 [GRCh38]
Chr7:42088136 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2023del (p.Glu675fs) |
deletion |
Pallister-Hall syndrome [RCV000014825] |
Chr7:41972417 [GRCh38]
Chr7:42012016 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2012del (p.Gly671fs) |
deletion |
Pallister-Hall syndrome [RCV000014826] |
Chr7:41972428 [GRCh38]
Chr7:42012027 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3646dup (p.Leu1216fs) |
duplication |
Polysyndactyly 4 [RCV000014828] |
Chr7:41965426..41965427 [GRCh38]
Chr7:42005024..42005025 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3439G>T (p.Glu1147Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV000014829] |
Chr7:41965634 [GRCh38]
Chr7:42005232 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) |
single nucleotide variant |
Abnormality of prenatal development or birth [RCV001836708]|GLI3-related condition [RCV003390683]|Postaxial polydactyly, type A1/B [RCV000014831] |
Chr7:41972513 [GRCh38]
Chr7:42012112 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000320330]|Greig cephalopolysyndactyly syndrome [RCV001084662]|Pallister-Hall syndrome [RCV000267521]|Polydactyly [RCV000358789]|Postaxial polydactyly [RCV003458333]|Postaxial polydactyly, type A1/B [RCV000014832]|not provided [RCV000514884]|not specified [RCV000174664] |
Chr7:41967848 [GRCh38]
Chr7:42007446 [GRCh37]
Chr7:7p14.1 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000014833] |
Chr7:41978619 [GRCh38]
Chr7:42018218 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314 |
insertion |
Pallister-Hall syndrome [RCV000014834] |
Chr7:41966302..41966303 [GRCh38]
Chr7:42005900..42005901 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000014835] |
Chr7:41972567 [GRCh38]
Chr7:42012166 [GRCh37]
Chr7:7p14.1 |
pathogenic|likely pathogenic |
| NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000014837]|Greig cephalopolysyndactyly syndrome [RCV000554724]|Polysyndactyly 4 [RCV000014838] |
Chr7:42040198 [GRCh38]
Chr7:42079797 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000014840]|Greig cephalopolysyndactyly syndrome [RCV001047666]|Polydactyly, postaxial, type A1 [RCV001450016]|not provided [RCV000489344] |
Chr7:41967653 [GRCh38]
Chr7:42007251 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2188_2206del (p.Leu730fs) |
deletion |
Pallister-Hall syndrome [RCV000014841] |
Chr7:41967821..41967839 [GRCh38]
Chr7:42007419..42007437 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000014842] |
Chr7:42023479 [GRCh38]
Chr7:42063078 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000014843]|Greig cephalopolysyndactyly syndrome [RCV000542657]|Hirschsprung disease, susceptibility to, 1 [RCV000508658]|not provided [RCV000782254]|not specified [RCV000500441] |
Chr7:41967908 [GRCh38]
Chr7:42007506 [GRCh37]
Chr7:7p14.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.2800G>C (p.Ala934Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome, severe [RCV000030896] |
Chr7:41966273 [GRCh38]
Chr7:42005871 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.5(GLI3):c.1498-15698C>G |
single nucleotide variant |
Lung cancer [RCV000106047] |
Chr7:41994446 [GRCh38]
Chr7:42034045 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.5(GLI3):c.-43+5823C>G |
single nucleotide variant |
Lung cancer [RCV000106048] |
Chr7:42231148 [GRCh38]
Chr7:42270747 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2003_2006del (p.Pro668fs) |
microsatellite |
Pallister-Hall syndrome [RCV000031860] |
Chr7:41972434..41972437 [GRCh38]
Chr7:42012033..42012036 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2032del (p.Asp678fs) |
deletion |
Pallister-Hall syndrome [RCV000031861] |
Chr7:41972408 [GRCh38]
Chr7:42012007 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2058_2059delinsAT (p.Glu687Ter) |
indel |
Pallister-Hall syndrome [RCV000031862] |
Chr7:41972381..41972382 [GRCh38]
Chr7:42011980..42011981 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2062G>T (p.Glu688Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV000031863] |
Chr7:41972378 [GRCh38]
Chr7:42011977 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2110C>T (p.Gln704Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV000031864] |
Chr7:41967917 [GRCh38]
Chr7:42007515 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2139del (p.Ser712_Cys713insTer) |
deletion |
Pallister-Hall syndrome [RCV000031865] |
Chr7:41967888 [GRCh38]
Chr7:42007486 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2146C>T (p.Gln716Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV000031866] |
Chr7:41967881 [GRCh38]
Chr7:42007479 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2149C>T (p.Gln717Ter) |
single nucleotide variant |
not provided [RCV003328942] |
Chr7:41967878 [GRCh38]
Chr7:42007476 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2157del (p.Ile720fs) |
deletion |
Pallister-Hall syndrome [RCV000031868] |
Chr7:41967870 [GRCh38]
Chr7:42007468 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2197_2198del (p.Thr733fs) |
deletion |
Pallister-Hall syndrome [RCV000031870] |
Chr7:41967829..41967830 [GRCh38]
Chr7:42007427..42007428 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2346_2356del (p.Arg782fs) |
deletion |
Pallister-Hall syndrome [RCV000031871] |
Chr7:41967671..41967681 [GRCh38]
Chr7:42007269..42007279 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2351_2355del (p.Lys784fs) |
deletion |
Pallister-Hall syndrome [RCV000031872] |
Chr7:41967672..41967676 [GRCh38]
Chr7:42007270..42007274 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2431+1G>A |
single nucleotide variant |
not provided [RCV003886922] |
Chr7:41967595 [GRCh38]
Chr7:42007193 [GRCh37]
Chr7:7p14.1 |
pathogenic|likely pathogenic |
| NM_000168.6(GLI3):c.2483del (p.Pro828fs) |
deletion |
Pallister-Hall syndrome [RCV000031874] |
Chr7:41966590 [GRCh38]
Chr7:42006188 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2567C>A (p.Ser856Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV000031875] |
Chr7:41966506 [GRCh38]
Chr7:42006104 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2620del (p.Arg874fs) |
deletion |
Pallister-Hall syndrome [RCV000031876] |
Chr7:41966453 [GRCh38]
Chr7:42006051 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2628del (p.Ser877fs) |
deletion |
Pallister-Hall syndrome [RCV000031877] |
Chr7:41966445 [GRCh38]
Chr7:42006043 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2799C>G (p.Tyr933Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV000031878] |
Chr7:41966274 [GRCh38]
Chr7:42005872 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2935del (p.Cys979fs) |
deletion |
Pallister-Hall syndrome [RCV000031879] |
Chr7:41966138 [GRCh38]
Chr7:42005736 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3004del (p.Gly1001_Val1002insTer) |
deletion |
Pallister-Hall syndrome [RCV000031880] |
Chr7:41966069 [GRCh38]
Chr7:42005667 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3324C>G (p.Tyr1108Ter) |
single nucleotide variant |
not provided [RCV001596944] |
Chr7:41965749 [GRCh38]
Chr7:42005347 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3386_3387del (p.Asp1128_Phe1129insTer) |
deletion |
Pallister-Hall syndrome [RCV003123330] |
Chr7:41965686..41965687 [GRCh38]
Chr7:42005284..42005285 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3456G>T (p.Glu1152Asp) |
single nucleotide variant |
Pallister-Hall syndrome [RCV000031883] |
Chr7:41965617 [GRCh38]
Chr7:42005215 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000814115] |
Chr7:41965592 [GRCh38]
Chr7:42005190 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1616_1617del (p.Arg539fs) |
deletion |
Postaxial polydactyly, type A1/B [RCV000032707] |
Chr7:41978629..41978630 [GRCh38]
Chr7:42018228..42018229 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 |
copy number loss |
See cases [RCV000052250] |
Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7p14.1(chr7:42055193-42218144)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052315]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052315]|See cases [RCV000052315] |
Chr7:42055193..42218144 [GRCh38]
Chr7:42094792..42257743 [GRCh37]
Chr7:42061317..42224268 [NCBI36]
Chr7:7p14.1 |
pathogenic |
| GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 |
copy number loss |
See cases [RCV000053132] |
Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3 |
pathogenic |
| GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 |
copy number gain |
See cases [RCV000053532] |
Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21 |
pathogenic |
| NM_000168.6(GLI3):c.2172dup (p.Asn725fs) |
duplication |
Pallister-Hall syndrome [RCV000031869] |
Chr7:41967854..41967855 [GRCh38]
Chr7:42007452..42007453 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4606T>A (p.Ser1536Thr) |
single nucleotide variant |
not provided [RCV000255680] |
Chr7:41964467 [GRCh38]
Chr7:42004065 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000764716]|Greig cephalopolysyndactyly syndrome [RCV001158784]|Greig cephalopolysyndactyly syndrome [RCV003765568]|Pallister-Hall syndrome [RCV001158785]|Polydactyly [RCV001158783]|not provided [RCV000255549] |
Chr7:42148352 [GRCh38]
Chr7:42187951 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000273966]|Greig cephalopolysyndactyly syndrome [RCV000764715]|Pallister-Hall syndrome [RCV000387520]|Polydactyly [RCV000329014]|not provided [RCV000255158] |
Chr7:41965955 [GRCh38]
Chr7:42005553 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.368-19G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002055561]|Greig cephalopolysyndactyly syndrome [RCV002492467]|not specified [RCV000125245] |
Chr7:42076876 [GRCh38]
Chr7:42116475 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000335583]|Pallister-Hall syndrome [RCV000400765]|Polydactyly [RCV000299444]|not provided [RCV001573605]|not specified [RCV000125246] |
Chr7:41965990 [GRCh38]
Chr7:42005588 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000340954]|Pallister-Hall syndrome [RCV000380291]|Polydactyly [RCV000286033]|not provided [RCV001812049]|not specified [RCV000125247] |
Chr7:41965989 [GRCh38]
Chr7:42005587 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2826G>C (p.Pro942=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000374326]|Greig cephalopolysyndactyly syndrome [RCV000544283]|Pallister-Hall syndrome [RCV000319709]|Polydactyly [RCV000283260]|not provided [RCV001707548]|not specified [RCV000174832] |
Chr7:41966247 [GRCh38]
Chr7:42005845 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000384370]|Greig cephalopolysyndactyly syndrome [RCV000537751]|Inborn genetic diseases [RCV002516647]|Pallister-Hall syndrome [RCV000348496]|Polydactyly [RCV000289928]|not provided [RCV003422066]|not specified [RCV000174833] |
Chr7:41965409 [GRCh38]
Chr7:42005007 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.2835G>C (p.Leu945=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000377660]|Greig cephalopolysyndactyly syndrome [RCV000552308]|Pallister-Hall syndrome [RCV000267991]|Polydactyly [RCV000323129]|not provided [RCV001572936]|not specified [RCV000174834] |
Chr7:41966238 [GRCh38]
Chr7:42005836 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2419C>T (p.Leu807Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002518751]|not provided [RCV000256074] |
Chr7:41967608 [GRCh38]
Chr7:42007206 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 |
copy number loss |
See cases [RCV000135401] |
Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7p14.1(chr7:41084766-42566517)x1 |
copy number loss |
See cases [RCV000135844] |
Chr7:41084766..42566517 [GRCh38]
Chr7:41124364..42606116 [GRCh37]
Chr7:41090889..42572641 [NCBI36]
Chr7:7p14.1 |
pathogenic |
| GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 |
copy number loss |
See cases [RCV000136092] |
Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2 |
pathogenic |
| GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 |
copy number loss |
See cases [RCV000136904] |
Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1 |
pathogenic |
| GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 |
copy number loss |
See cases [RCV000137139] |
Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3 |
pathogenic |
| GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 |
copy number loss |
See cases [RCV000137305] |
Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13 |
pathogenic |
| GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1 |
copy number loss |
See cases [RCV000138190] |
Chr7:35460776..42013800 [GRCh38]
Chr7:35500386..42053399 [GRCh37]
Chr7:35466911..42019924 [NCBI36]
Chr7:7p14.2-14.1 |
pathogenic |
| GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 |
copy number loss |
See cases [RCV000142297] |
Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13 |
pathogenic |
| NC_000007.14:g.42247568G>A |
single nucleotide variant |
Lung cancer [RCV000106049] |
Chr7:42247568 [GRCh38]
Chr7:42287167 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3695A>C (p.His1232Pro) |
single nucleotide variant |
not specified [RCV000192754] |
Chr7:41965378 [GRCh38]
Chr7:42004976 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1207G>A (p.Val403Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000268836]|Greig cephalopolysyndactyly syndrome [RCV002517076]|Inborn genetic diseases [RCV002517940]|Pallister-Hall syndrome [RCV000326204]|Polydactyly [RCV000365900]|not specified [RCV000193696] |
Chr7:42026234 [GRCh38]
Chr7:42065833 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1242+8G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000864279]|Greig cephalopolysyndactyly syndrome [RCV002492878]|not specified [RCV000194908] |
Chr7:42026191 [GRCh38]
Chr7:42065790 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) |
single nucleotide variant |
GLI3-related condition [RCV003922596]|Greig cephalopolysyndactyly syndrome [RCV000357477]|Greig cephalopolysyndactyly syndrome [RCV001085442]|Pallister-Hall syndrome [RCV000262493]|Polydactyly [RCV000298895]|not provided [RCV000756208]|not specified [RCV000424471] |
Chr7:41965865 [GRCh38]
Chr7:42005463 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*1411G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000324544]|Pallister-Hall syndrome [RCV000264333]|Polydactyly [RCV000379125] |
Chr7:41962919 [GRCh38]
Chr7:42002517 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.1812+3A>T |
single nucleotide variant |
not provided [RCV000190374] |
Chr7:41977555 [GRCh38]
Chr7:42017154 [GRCh37]
Chr7:7p14.1 |
not provided |
| NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) |
single nucleotide variant |
GLI3-related condition [RCV003897610]|Greig cephalopolysyndactyly syndrome [RCV000388438]|Greig cephalopolysyndactyly syndrome [RCV001486626]|Pallister-Hall syndrome [RCV000293622]|Polydactyly [RCV000333919]|not provided [RCV000296340] |
Chr7:41965311 [GRCh38]
Chr7:42004909 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1959G>A (p.Pro653=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000295417]|Greig cephalopolysyndactyly syndrome [RCV001083051]|Pallister-Hall syndrome [RCV000334254]|Polydactyly [RCV000386435]|not provided [RCV000398266] |
Chr7:41972481 [GRCh38]
Chr7:42012080 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.1485G>A (p.Glu495=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000283177]|Greig cephalopolysyndactyly syndrome [RCV002521915]|Pallister-Hall syndrome [RCV000341599]|Polydactyly [RCV000380054]|not provided [RCV000290847] |
Chr7:42023480 [GRCh38]
Chr7:42063079 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) |
single nucleotide variant |
GLI3-related condition [RCV003920057]|Greig cephalopolysyndactyly syndrome [RCV000267903]|Greig cephalopolysyndactyly syndrome [RCV001083375]|Pallister-Hall syndrome [RCV000307954]|Polydactyly [RCV000362619]|not provided [RCV000354909] |
Chr7:41965138 [GRCh38]
Chr7:42004736 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.1697del (p.His566fs) |
deletion |
not provided [RCV000255594] |
Chr7:41977673 [GRCh38]
Chr7:42017272 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 |
copy number loss |
See cases [RCV000446044] |
Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_000168.6(GLI3):c.3667_3670delinsATCAA (p.Tyr1223fs) |
indel |
Greig cephalopolysyndactyly syndrome [RCV001450029] |
Chr7:41965403..41965406 [GRCh38]
Chr7:42005001..42005004 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.650C>G (p.Ser217Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001450023] |
Chr7:42048520 [GRCh38]
Chr7:42088119 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000365837]|Greig cephalopolysyndactyly syndrome [RCV001084195]|Greig cephalopolysyndactyly syndrome [RCV002503879]|Pallister-Hall syndrome [RCV001160021]|Polydactyly [RCV001160020]|not provided [RCV000224342]|not specified [RCV000421865] |
Chr7:41967603 [GRCh38]
Chr7:42007201 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.*1691C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000345149]|Pallister-Hall syndrome [RCV000379886]|Polydactyly [RCV000285401] |
Chr7:41962639 [GRCh38]
Chr7:42002237 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*1080G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000278709]|Pallister-Hall syndrome [RCV000389541]|Polydactyly [RCV000332895] |
Chr7:41963250 [GRCh38]
Chr7:42002848 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1028+15G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000351452]|Greig cephalopolysyndactyly syndrome [RCV002058672]|Greig cephalopolysyndactyly syndrome [RCV002502383]|Pallister-Hall syndrome [RCV000280224]|Polydactyly [RCV000372426] |
Chr7:42040023 [GRCh38]
Chr7:42079622 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000399412]|Greig cephalopolysyndactyly syndrome [RCV000870850]|Greig cephalopolysyndactyly syndrome [RCV002502381]|Pallister-Hall syndrome [RCV000282685]|Polydactyly [RCV000337741] |
Chr7:41964549 [GRCh38]
Chr7:42004147 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*249A>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000360641]|Pallister-Hall syndrome [RCV000303448]|Polydactyly [RCV000268293]|not provided [RCV001613200] |
Chr7:41964081 [GRCh38]
Chr7:42003679 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*2019C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000274066]|Pallister-Hall syndrome [RCV000368874]|Polydactyly [RCV000333911] |
Chr7:41962311 [GRCh38]
Chr7:42001909 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1911T>C (p.His637=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003765495]|not specified [RCV000243684] |
Chr7:41972529 [GRCh38]
Chr7:42012128 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2802G>A (p.Ala934=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000875705]|Greig cephalopolysyndactyly syndrome [RCV001162871]|Greig cephalopolysyndactyly syndrome [RCV002479957]|Pallister-Hall syndrome [RCV001162870]|Polydactyly [RCV001164937]|not provided [RCV001682958]|not specified [RCV000246171] |
Chr7:41966271 [GRCh38]
Chr7:42005869 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1509C>T (p.Asn503=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000329629]|Greig cephalopolysyndactyly syndrome [RCV000528681]|Pallister-Hall syndrome [RCV000271138]|Polydactyly [RCV000386512]|not provided [RCV001610561]|not specified [RCV000248736] |
Chr7:41978737 [GRCh38]
Chr7:42018336 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1029-7C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634042]|Greig cephalopolysyndactyly syndrome [RCV002487115]|not specified [RCV000251144] |
Chr7:42026419 [GRCh38]
Chr7:42066018 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.743G>A (p.Arg248His) |
single nucleotide variant |
not specified [RCV000253528] |
Chr7:42045467 [GRCh38]
Chr7:42085066 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1029-22dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV000280590]|Greig cephalopolysyndactyly syndrome [RCV002057320]|Greig cephalopolysyndactyly syndrome [RCV002487114]|Pallister-Hall syndrome [RCV000377255]|Polydactyly [RCV000337937]|not provided [RCV000839252]|not specified [RCV000246423] |
Chr7:42026427..42026428 [GRCh38]
Chr7:42066026..42066027 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1498-44G>A |
single nucleotide variant |
not specified [RCV000243993] |
Chr7:41978792 [GRCh38]
Chr7:42018391 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1357-17C>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001522698]|Greig cephalopolysyndactyly syndrome [RCV002503924]|not provided [RCV000513802]|not specified [RCV000246622] |
Chr7:42023625 [GRCh38]
Chr7:42063224 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000391206]|Greig cephalopolysyndactyly syndrome [RCV001083893]|Pallister-Hall syndrome [RCV000336064]|Polydactyly [RCV000314867]|not provided [RCV000433382]|not specified [RCV000251377] |
Chr7:42023572 [GRCh38]
Chr7:42063171 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001085139]|Greig cephalopolysyndactyly syndrome [RCV001161439]|Pallister-Hall syndrome [RCV001161440]|Polydactyly [RCV001162975]|not provided [RCV000514524]|not specified [RCV000253835] |
Chr7:41967862 [GRCh38]
Chr7:42007460 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1356+11G>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000367167]|Greig cephalopolysyndactyly syndrome [RCV002057321]|Pallister-Hall syndrome [RCV000274891]|Polydactyly [RCV000308865]|Polydactyly, postaxial, type A1 [RCV001701884]|Polysyndactyly 4 [RCV001701804]|not provided [RCV001668414]|not specified [RCV000241837] |
Chr7:42025253 [GRCh38]
Chr7:42064852 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1243-40A>C |
single nucleotide variant |
not specified [RCV000251640] |
Chr7:42025417 [GRCh38]
Chr7:42065016 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.*11A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000277687]|Pallister-Hall syndrome [RCV000369843]|Polydactyly [RCV000316469]|not specified [RCV000254051] |
Chr7:41964319 [GRCh38]
Chr7:42003917 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3540G>A (p.Gly1180=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001504926]|not specified [RCV000242012] |
Chr7:41965533 [GRCh38]
Chr7:42005131 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000318649]|Greig cephalopolysyndactyly syndrome [RCV000545847]|Pallister-Hall syndrome [RCV000259940]|Polydactyly [RCV000373252]|not provided [RCV001711649]|not specified [RCV000244347] |
Chr7:41965299 [GRCh38]
Chr7:42004897 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2104-50C>T |
single nucleotide variant |
not provided [RCV001658159]|not specified [RCV000249249] |
Chr7:41967973 [GRCh38]
Chr7:42007571 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000329797]|Greig cephalopolysyndactyly syndrome [RCV000541353]|Pallister-Hall syndrome [RCV000373473]|Polydactyly [RCV000274709]|not provided [RCV001573073]|not specified [RCV000254161] |
Chr7:41964464 [GRCh38]
Chr7:42004062 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*2276T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000365178]|Pallister-Hall syndrome [RCV000329234]|Polydactyly [RCV000275269] |
Chr7:41962054 [GRCh38]
Chr7:42001652 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.528C>G (p.Ile176Met) |
single nucleotide variant |
not specified [RCV000244551] |
Chr7:42048642 [GRCh38]
Chr7:42088241 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1813-47G>A |
single nucleotide variant |
not specified [RCV000251880] |
Chr7:41972674 [GRCh38]
Chr7:42012273 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2432-30C>T |
single nucleotide variant |
not specified [RCV000254355] |
Chr7:41966671 [GRCh38]
Chr7:42006269 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000375053]|Greig cephalopolysyndactyly syndrome [RCV000527883]|Pallister-Hall syndrome [RCV000320488]|Polydactyly [RCV000284158]|not provided [RCV001711525]|not specified [RCV000244659] |
Chr7:41965053 [GRCh38]
Chr7:42004651 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.679+40C>A |
single nucleotide variant |
not specified [RCV000244820] |
Chr7:42048451 [GRCh38]
Chr7:42088050 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2373G>A (p.Pro791=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000538308]|Greig cephalopolysyndactyly syndrome [RCV002494697]|not provided [RCV001705332]|not specified [RCV000249563] |
Chr7:41967654 [GRCh38]
Chr7:42007252 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000269421]|Greig cephalopolysyndactyly syndrome [RCV001516015]|Pallister-Hall syndrome [RCV000324626]|Polydactyly [RCV000379198]|not provided [RCV001610562]|not specified [RCV000249611] |
Chr7:41965002 [GRCh38]
Chr7:42004600 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.280C>T (p.Leu94=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000366715]|Greig cephalopolysyndactyly syndrome [RCV000634041]|Greig cephalopolysyndactyly syndrome [RCV002488806]|Pallister-Hall syndrome [RCV000271591]|Polydactyly [RCV000322548]|not specified [RCV000503086] |
Chr7:42148313 [GRCh38]
Chr7:42187912 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.1029-11C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000378598]|Greig cephalopolysyndactyly syndrome [RCV002055028]|Greig cephalopolysyndactyly syndrome [RCV002487113]|Pallister-Hall syndrome [RCV000267718]|Polydactyly [RCV000320269]|not specified [RCV000242428] |
Chr7:42026423 [GRCh38]
Chr7:42066022 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) |
single nucleotide variant |
GLI3-related condition [RCV003891836]|Greig cephalopolysyndactyly syndrome [RCV000323042]|Greig cephalopolysyndactyly syndrome [RCV000876007]|Pallister-Hall syndrome [RCV000358165]|Polydactyly [RCV000263335] |
Chr7:41965179 [GRCh38]
Chr7:42004777 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.680-25C>T |
single nucleotide variant |
not specified [RCV000249790] |
Chr7:42045555 [GRCh38]
Chr7:42085154 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) |
single nucleotide variant |
GLI3-related condition [RCV003891835]|Greig cephalopolysyndactyly syndrome [RCV000871360]|Greig cephalopolysyndactyly syndrome [RCV001161316]|Inborn genetic diseases [RCV002518567]|Pallister-Hall syndrome [RCV001161317]|Polydactyly [RCV001159917]|not provided [RCV001549319]|not specified [RCV000249805] |
Chr7:41966072 [GRCh38]
Chr7:42005670 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000335523]|Greig cephalopolysyndactyly syndrome [RCV000551735]|Pallister-Hall syndrome [RCV000280581]|Polydactyly [RCV000401764]|not provided [RCV001573938]|not specified [RCV000252238] |
Chr7:41965066 [GRCh38]
Chr7:42004664 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000274578]|Greig cephalopolysyndactyly syndrome [RCV001523404]|Pallister-Hall syndrome [RCV000366034]|Polydactyly [RCV000311017]|Polydactyly, postaxial, type A1 [RCV001701713]|Polysyndactyly 4 [RCV001701714]|not provided [RCV001682959]|not specified [RCV000245039] |
Chr7:41966080 [GRCh38]
Chr7:42005678 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3772C>G (p.Leu1258Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001854950]|not specified [RCV000252349] |
Chr7:41965301 [GRCh38]
Chr7:42004899 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1242+42C>G |
single nucleotide variant |
not specified [RCV000247703] |
Chr7:42026157 [GRCh38]
Chr7:42065756 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.900C>T (p.Ser300=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000310872]|Greig cephalopolysyndactyly syndrome [RCV001518790]|Greig cephalopolysyndactyly syndrome [RCV002487116]|Pallister-Hall syndrome [RCV000362699]|Polydactyly [RCV000400548]|not provided [RCV001610564]|not specified [RCV000250104] |
Chr7:42040166 [GRCh38]
Chr7:42079765 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1242+25C>T |
single nucleotide variant |
not specified [RCV000242927] |
Chr7:42026174 [GRCh38]
Chr7:42065773 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.840C>G (p.Ser280=) |
single nucleotide variant |
GLI3-related condition [RCV003891837]|Greig cephalopolysyndactyly syndrome [RCV000304980]|Greig cephalopolysyndactyly syndrome [RCV000542260]|Greig cephalopolysyndactyly syndrome [RCV002494698]|Pallister-Hall syndrome [RCV000361950]|Polydactyly [RCV000392843]|not provided [RCV001682960]|not specified [RCV000245545] |
Chr7:42040226 [GRCh38]
Chr7:42079825 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2184C>T (p.Leu728=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001439996]|not specified [RCV000245648] |
Chr7:41967843 [GRCh38]
Chr7:42007441 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3312C>T (p.Asn1104=) |
single nucleotide variant |
not specified [RCV000250442] |
Chr7:41965761 [GRCh38]
Chr7:42005359 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1647+13G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000276850]|Greig cephalopolysyndactyly syndrome [RCV002058671]|Greig cephalopolysyndactyly syndrome [RCV002488805]|Pallister-Hall syndrome [RCV000298262]|Polydactyly [RCV000369323]|not specified [RCV000604884] |
Chr7:41978586 [GRCh38]
Chr7:42018185 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*30G>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000312851]|Pallister-Hall syndrome [RCV000273998]|Polydactyly [RCV000366153]|not provided [RCV001597002]|not specified [RCV000250678] |
Chr7:41964300 [GRCh38]
Chr7:42003898 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*15dup |
duplication |
not specified [RCV000245928] |
Chr7:41964314..41964315 [GRCh38]
Chr7:42003912..42003913 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.537C>T (p.His179=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000262115]|Greig cephalopolysyndactyly syndrome [RCV001518791]|Pallister-Hall syndrome [RCV000353450]|Polydactyly [RCV000300907]|not provided [RCV001711526]|not specified [RCV000248282] |
Chr7:42048633 [GRCh38]
Chr7:42088232 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000359147]|Greig cephalopolysyndactyly syndrome [RCV001513945]|Pallister-Hall syndrome [RCV000301892]|Polydactyly [RCV000393085]|not provided [RCV001610563]|not specified [RCV000253268] |
Chr7:42048623 [GRCh38]
Chr7:42088222 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000332936]|Greig cephalopolysyndactyly syndrome [RCV002524531]|Pallister-Hall syndrome [RCV000278006]|Polydactyly [RCV000354031] |
Chr7:41965924 [GRCh38]
Chr7:42005522 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*655A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000356133]|Pallister-Hall syndrome [RCV000402993]|Polydactyly [RCV000298940] |
Chr7:41963675 [GRCh38]
Chr7:42003273 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*2146_*2150del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000283862]|Pallister-Hall syndrome [RCV000337711]|Polydactyly [RCV000407785] |
Chr7:41962180..41962184 [GRCh38]
Chr7:42001778..42001782 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.444C>T (p.Tyr148=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000383193]|Greig cephalopolysyndactyly syndrome [RCV001085551]|Greig cephalopolysyndactyly syndrome [RCV002502386]|Pallister-Hall syndrome [RCV000284105]|Polydactyly [RCV000328780]|not provided [RCV000429089] |
Chr7:42076781 [GRCh38]
Chr7:42116380 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*2357T>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000358278]|Pallister-Hall syndrome [RCV000299561]|Polydactyly [RCV000402983]|not provided [RCV003422354] |
Chr7:41961973 [GRCh38]
Chr7:42001571 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*265A>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000392631]|Pallister-Hall syndrome [RCV000299795]|Polydactyly [RCV000338396]|not provided [RCV001672695] |
Chr7:41964065 [GRCh38]
Chr7:42003663 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.99C>T (p.Ala33=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000268493]|Greig cephalopolysyndactyly syndrome [RCV000883186]|Pallister-Hall syndrome [RCV000377113]|Polydactyly [RCV000323611] |
Chr7:42223155 [GRCh38]
Chr7:42262754 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.411T>C (p.Ile137=) |
single nucleotide variant |
GLI3-related condition [RCV003950278]|Greig cephalopolysyndactyly syndrome [RCV000339184]|Greig cephalopolysyndactyly syndrome [RCV000875083]|Greig cephalopolysyndactyly syndrome [RCV002504180]|Pallister-Hall syndrome [RCV000285362]|Polydactyly [RCV000395319]|not specified [RCV000615516] |
Chr7:42076814 [GRCh38]
Chr7:42116413 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000302598]|Greig cephalopolysyndactyly syndrome [RCV001087982]|Greig cephalopolysyndactyly syndrome [RCV002480245]|Pallister-Hall syndrome [RCV000406987]|Polydactyly [RCV000341358]|not provided [RCV000514757] |
Chr7:41965475 [GRCh38]
Chr7:42005073 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*2347C>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000304737]|Pallister-Hall syndrome [RCV000364107]|Polydactyly [RCV000269502] |
Chr7:41961983 [GRCh38]
Chr7:42001581 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000380693]|Greig cephalopolysyndactyly syndrome [RCV001466208]|Greig cephalopolysyndactyly syndrome [RCV002488804]|Pallister-Hall syndrome [RCV000341146]|Polydactyly [RCV000286335] |
Chr7:41964540 [GRCh38]
Chr7:42004138 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) |
single nucleotide variant |
GLI3-related condition [RCV003922597]|Greig cephalopolysyndactyly syndrome [RCV000370048]|Greig cephalopolysyndactyly syndrome [RCV001085140]|Greig cephalopolysyndactyly syndrome [RCV002502387]|Pallister-Hall syndrome [RCV000307311]|Polydactyly [RCV000270860]|not provided [RCV000513753]|not specified [RCV000501667] |
Chr7:42148252 [GRCh38]
Chr7:42187851 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.*3004G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000287285]|Pallister-Hall syndrome [RCV000342275]|Polydactyly [RCV000379575] |
Chr7:41961326 [GRCh38]
Chr7:42000924 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*136T>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000408240]|Pallister-Hall syndrome [RCV000305560]|Polydactyly [RCV000340364] |
Chr7:41964194 [GRCh38]
Chr7:42003792 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2960A>G (p.Tyr987Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000271369]|Pallister-Hall syndrome [RCV000362411]|Polydactyly [RCV000326387] |
Chr7:41966113 [GRCh38]
Chr7:42005711 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.*835G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000378757]|Pallister-Hall syndrome [RCV000288137]|Polydactyly [RCV000345417] |
Chr7:41963495 [GRCh38]
Chr7:42003093 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.474-4C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000287847]|Greig cephalopolysyndactyly syndrome [RCV000634039]|Greig cephalopolysyndactyly syndrome [RCV002502385]|Pallister-Hall syndrome [RCV000382234]|Polydactyly [RCV000332286]|not provided [RCV001705531] |
Chr7:42048700 [GRCh38]
Chr7:42088299 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1845T>C (p.Thr615=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000288074]|Greig cephalopolysyndactyly syndrome [RCV002523596]|Pallister-Hall syndrome [RCV000390043]|Polydactyly [RCV000345408] |
Chr7:41972595 [GRCh38]
Chr7:42012194 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000358471]|Pallister-Hall syndrome [RCV000406810]|Polydactyly [RCV000306077] |
Chr7:41972597 [GRCh38]
Chr7:42012196 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) |
single nucleotide variant |
GLI3-related condition [RCV003970055]|Greig cephalopolysyndactyly syndrome [RCV000344328]|Greig cephalopolysyndactyly syndrome [RCV002058669]|Pallister-Hall syndrome [RCV000383672]|Polydactyly [RCV000289307] |
Chr7:41965956 [GRCh38]
Chr7:42005554 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.4296G>A (p.Leu1432=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000364028]|Pallister-Hall syndrome [RCV000327920]|Polydactyly [RCV000272872] |
Chr7:41964777 [GRCh38]
Chr7:42004375 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*428C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000328387]|Pallister-Hall syndrome [RCV000289654]|Polydactyly [RCV000385228] |
Chr7:41963902 [GRCh38]
Chr7:42003500 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*3309C>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000365037]|Pallister-Hall syndrome [RCV000306970]|Polydactyly [RCV000404520] |
Chr7:41961021 [GRCh38]
Chr7:42000619 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000305075]|Greig cephalopolysyndactyly syndrome [RCV001034036]|Pallister-Hall syndrome [RCV000406991]|Polydactyly [RCV000344954] |
Chr7:41965442 [GRCh38]
Chr7:42005040 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.681G>A (p.Ala227=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000347284]|Greig cephalopolysyndactyly syndrome [RCV003766068]|Pallister-Hall syndrome [RCV000398784]|Polydactyly [RCV000290017] |
Chr7:42045529 [GRCh38]
Chr7:42085128 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*2117A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000343492]|Pallister-Hall syndrome [RCV000308479]|Polydactyly [RCV000405334] |
Chr7:41962213 [GRCh38]
Chr7:42001811 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*2757C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000288412]|Pallister-Hall syndrome [RCV000382828]|Polydactyly [RCV000347961]|not provided [RCV001709632] |
Chr7:41961573 [GRCh38]
Chr7:42001171 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1497C>T (p.His499=) |
single nucleotide variant |
GLI3-related condition [RCV003897803]|Greig cephalopolysyndactyly syndrome [RCV000328810]|Greig cephalopolysyndactyly syndrome [RCV001415336]|Pallister-Hall syndrome [RCV000288908]|Polydactyly [RCV000381070] |
Chr7:42023468 [GRCh38]
Chr7:42063067 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*741A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000291578]|Pallister-Hall syndrome [RCV000392139]|Polydactyly [RCV000349044] |
Chr7:41963589 [GRCh38]
Chr7:42003187 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2493C>A (p.Ser831Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000348583]|Pallister-Hall syndrome [RCV000393591]|Polydactyly [RCV000308790] |
Chr7:41966580 [GRCh38]
Chr7:42006178 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.-68G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000309892]|Pallister-Hall syndrome [RCV000401190]|Polydactyly [RCV000364615] |
Chr7:42236996 [GRCh38]
Chr7:42276595 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1800G>A (p.Thr600=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000356603]|Greig cephalopolysyndactyly syndrome [RCV002502382]|Pallister-Hall syndrome [RCV000259342]|Polydactyly [RCV000300111]|not provided [RCV000975287] |
Chr7:41977570 [GRCh38]
Chr7:42017169 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*2666G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000301159]|Pallister-Hall syndrome [RCV000260011]|Polydactyly [RCV000355919]|not provided [RCV003430937] |
Chr7:41961664 [GRCh38]
Chr7:42001262 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.*1087A>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000329369]|Pallister-Hall syndrome [RCV000275453]|Polydactyly [RCV000386175] |
Chr7:41963243 [GRCh38]
Chr7:42002841 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*3238C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000318952]|Pallister-Hall syndrome [RCV000367689]|Polydactyly [RCV000275569] |
Chr7:41961092 [GRCh38]
Chr7:42000690 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*943G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000275718]|Pallister-Hall syndrome [RCV000333637]|Polydactyly [RCV000367971] |
Chr7:41963387 [GRCh38]
Chr7:42002985 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*1623A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000310905]|Pallister-Hall syndrome [RCV000391539]|Polydactyly [RCV000352272] |
Chr7:41962707 [GRCh38]
Chr7:42002305 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2412C>G (p.Val804=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000393597]|Pallister-Hall syndrome [RCV000359839]|Polydactyly [RCV000307651] |
Chr7:41967615 [GRCh38]
Chr7:42007213 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*3262A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000333969]|Pallister-Hall syndrome [RCV000364261]|Polydactyly [RCV000276682]|not provided [RCV001778944] |
Chr7:41961068 [GRCh38]
Chr7:42000666 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.-42-11G>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000348425]|Greig cephalopolysyndactyly syndrome [RCV002502388]|Pallister-Hall syndrome [RCV000293487]|Polydactyly [RCV000374676]|not provided [RCV001712547]|not specified [RCV001702360] |
Chr7:42223306 [GRCh38]
Chr7:42262905 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000366105]|Greig cephalopolysyndactyly syndrome [RCV000634040]|Pallister-Hall syndrome [RCV000393660]|Polydactyly [RCV000311389]|not provided [RCV001697765] |
Chr7:41965089 [GRCh38]
Chr7:42004687 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.961C>T (p.Leu321Phe) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000401377]|Pallister-Hall syndrome [RCV000311946]|Polydactyly [RCV000350453] |
Chr7:42040105 [GRCh38]
Chr7:42079704 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*911A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000260928]|Pallister-Hall syndrome [RCV000318441]|Polydactyly [RCV000353464] |
Chr7:41963419 [GRCh38]
Chr7:42003017 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.501G>A (p.Thr167=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000367232]|Greig cephalopolysyndactyly syndrome [RCV001514567]|Greig cephalopolysyndactyly syndrome [RCV002502384]|Pallister-Hall syndrome [RCV000331276]|Polydactyly [RCV000277354]|not provided [RCV000871924] |
Chr7:42048669 [GRCh38]
Chr7:42088268 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*2715G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000348966]|Pallister-Hall syndrome [RCV000312855]|Polydactyly [RCV000391308]|not provided [RCV001778945] |
Chr7:41961615 [GRCh38]
Chr7:42001213 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000346998]|Pallister-Hall syndrome [RCV000294462]|Polydactyly [RCV000398955] |
Chr7:41972482 [GRCh38]
Chr7:42012081 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2071C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000404465]|Pallister-Hall syndrome [RCV000309568]|Polydactyly [RCV000363041] |
Chr7:41962259 [GRCh38]
Chr7:42001857 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.*726A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000371025]|Pallister-Hall syndrome [RCV000314090]|Polydactyly [RCV000392150] |
Chr7:41963604 [GRCh38]
Chr7:42003202 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) |
single nucleotide variant |
GLI3-related condition [RCV003932485]|Greig cephalopolysyndactyly syndrome [RCV000391304]|Greig cephalopolysyndactyly syndrome [RCV001520695]|Pallister-Hall syndrome [RCV000314477]|Polydactyly [RCV000369102]|not specified [RCV000432805] |
Chr7:41966058 [GRCh38]
Chr7:42005656 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*1464A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000299509]|Pallister-Hall syndrome [RCV000263081]|Polydactyly [RCV000359090] |
Chr7:41962866 [GRCh38]
Chr7:42002464 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) |
single nucleotide variant |
GLI3-related condition [RCV003950277]|Greig cephalopolysyndactyly syndrome [RCV000316559]|Greig cephalopolysyndactyly syndrome [RCV002058670]|Pallister-Hall syndrome [RCV000263729]|Polydactyly [RCV000373507] |
Chr7:41972357 [GRCh38]
Chr7:42011956 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*185G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000371464]|Pallister-Hall syndrome [RCV000279710]|Polydactyly [RCV000333142] |
Chr7:41964145 [GRCh38]
Chr7:42003743 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*1297G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000407244]|Pallister-Hall syndrome [RCV000351440]|Polydactyly [RCV000296593] |
Chr7:41963033 [GRCh38]
Chr7:42002631 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000329883]|Greig cephalopolysyndactyly syndrome [RCV003105883]|Pallister-Hall syndrome [RCV000295892]|Polydactyly [RCV000386462]|not provided [RCV001770283] |
Chr7:42045462 [GRCh38]
Chr7:42085061 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000334992]|Greig cephalopolysyndactyly syndrome [RCV001088744]|Pallister-Hall syndrome [RCV000390459]|Polydactyly [RCV000296031]|not provided [RCV000437566] |
Chr7:41966438 [GRCh38]
Chr7:42006036 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) |
single nucleotide variant |
GLI3-related condition [RCV003957846]|Greig cephalopolysyndactyly syndrome [RCV000295772]|Greig cephalopolysyndactyly syndrome [RCV000877587]|Greig cephalopolysyndactyly syndrome [RCV002504179]|Pallister-Hall syndrome [RCV000393604]|Polydactyly [RCV000350655]|not provided [RCV001705530]|not specified [RCV000444747] |
Chr7:41965068 [GRCh38]
Chr7:42004666 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000371288]|Greig cephalopolysyndactyly syndrome [RCV000547412]|Pallister-Hall syndrome [RCV000297963]|Polydactyly [RCV000391379]|not provided [RCV001808777] |
Chr7:41964563 [GRCh38]
Chr7:42004161 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*1296T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000297839]|Pallister-Hall syndrome [RCV000405356]|Polydactyly [RCV000338792] |
Chr7:41963034 [GRCh38]
Chr7:42002632 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*2358del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000404956]|Pallister-Hall syndrome [RCV000298377]|Polydactyly [RCV000334670]|not provided [RCV001778946] |
Chr7:41961972 [GRCh38]
Chr7:42001570 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000340635]|Greig cephalopolysyndactyly syndrome [RCV001204137]|Pallister-Hall syndrome [RCV000399556]|Polydactyly [RCV000297459]|not provided [RCV001753837] |
Chr7:42023503 [GRCh38]
Chr7:42063102 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*2620C>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000379806]|Pallister-Hall syndrome [RCV000320672]|Polydactyly [RCV000265507] |
Chr7:41961710 [GRCh38]
Chr7:42001308 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4356G>A (p.Gln1452=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000367442]|Pallister-Hall syndrome [RCV000406439]|Polydactyly [RCV000312739]|not provided [RCV000896963] |
Chr7:41964717 [GRCh38]
Chr7:42004315 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*847C>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000283068]|Pallister-Hall syndrome [RCV000321764]|Polydactyly [RCV000375227] |
Chr7:41963483 [GRCh38]
Chr7:42003081 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.367C>T (p.His123Tyr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000390009]|Pallister-Hall syndrome [RCV000335666]|Polydactyly [RCV000300541] |
Chr7:42148226 [GRCh38]
Chr7:42187825 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.827-19dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV000387783]|Greig cephalopolysyndactyly syndrome [RCV002058673]|Pallister-Hall syndrome [RCV000316962]|Polydactyly [RCV000263684] |
Chr7:42040252..42040253 [GRCh38]
Chr7:42079851..42079852 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.648C>T (p.Ile216=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001088086]|not provided [RCV000304319] |
Chr7:42048522 [GRCh38]
Chr7:42088121 [GRCh37]
Chr7:7p14.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.*1386A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000384978]|Pallister-Hall syndrome [RCV000325484]|Polydactyly [RCV000270457] |
Chr7:41962944 [GRCh38]
Chr7:42002542 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1780C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000375671]|Pallister-Hall syndrome [RCV000322199]|Polydactyly [RCV000281116] |
Chr7:41962550 [GRCh38]
Chr7:42002148 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003765599]|not provided [RCV000271583] |
Chr7:42025274 [GRCh38]
Chr7:42064873 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.1357-3C>T |
single nucleotide variant |
not provided [RCV000304334] |
Chr7:42023611 [GRCh38]
Chr7:42063210 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1042dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV000374320]|Pallister-Hall syndrome [RCV000336075]|Polydactyly [RCV000282401] |
Chr7:41963287..41963288 [GRCh38]
Chr7:42002885..42002886 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.363C>T (p.His121=) |
single nucleotide variant |
GLI3-related condition [RCV003977806]|Greig cephalopolysyndactyly syndrome [RCV002059258]|not provided [RCV003430824]|not specified [RCV000273338] |
Chr7:42148230 [GRCh38]
Chr7:42187829 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*3094T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000322575]|Pallister-Hall syndrome [RCV000260345]|Polydactyly [RCV000376012] |
Chr7:41961236 [GRCh38]
Chr7:42000834 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1858C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000369928]|Pallister-Hall syndrome [RCV000260965]|Polydactyly [RCV000316467] |
Chr7:41962472 [GRCh38]
Chr7:42002070 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1239T>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000272102]|Pallister-Hall syndrome [RCV000307373]|Polydactyly [RCV000364292] |
Chr7:41963091 [GRCh38]
Chr7:42002689 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2216T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000282649]|Pallister-Hall syndrome [RCV000317711]|Polydactyly [RCV000372490] |
Chr7:41962114 [GRCh38]
Chr7:42001712 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*265dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV000296647]|Pallister-Hall syndrome [RCV000334979]|Polydactyly [RCV000392620]|not provided [RCV001707682] |
Chr7:41964064..41964065 [GRCh38]
Chr7:42003662..42003663 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*248dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV000272370]|Pallister-Hall syndrome [RCV000364747]|Polydactyly [RCV000307719]|not provided [RCV003430938] |
Chr7:41964081..41964082 [GRCh38]
Chr7:42003679..42003680 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.*165A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000337053]|Pallister-Hall syndrome [RCV000283290]|Polydactyly [RCV000375440] |
Chr7:41964165 [GRCh38]
Chr7:42003763 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*266_*267insA |
insertion |
Greig cephalopolysyndactyly syndrome [RCV000350345]|Pallister-Hall syndrome [RCV000388585]|Polydactyly [RCV000293031] |
Chr7:41964063..41964064 [GRCh38]
Chr7:42003661..42003662 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*3341dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV000403680]|Pallister-Hall syndrome [RCV000343252]|Polydactyly [RCV000303316]|not provided [RCV001537136] |
Chr7:41960988..41960989 [GRCh38]
Chr7:42000586..42000587 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4349T>G (p.Phe1450Cys) |
single nucleotide variant |
not provided [RCV000347627] |
Chr7:41964724 [GRCh38]
Chr7:42004322 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) |
single nucleotide variant |
GLI3-related condition [RCV003930106]|Greig cephalopolysyndactyly syndrome [RCV000814882]|Greig cephalopolysyndactyly syndrome [RCV001161436]|Pallister-Hall syndrome [RCV001161438]|Polydactyly [RCV001161437]|not provided [RCV000725555] |
Chr7:41967782 [GRCh38]
Chr7:42007380 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.*589T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000262886]|Pallister-Hall syndrome [RCV000320362]|Polydactyly [RCV000358752] |
Chr7:41963741 [GRCh38]
Chr7:42003339 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3903A>G (p.Pro1301=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001089316]|not provided [RCV000350836] |
Chr7:41965170 [GRCh38]
Chr7:42004768 [GRCh37]
Chr7:7p14.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.*248del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000275792]|Pallister-Hall syndrome [RCV000386580]|Polydactyly [RCV000329769] |
Chr7:41964082 [GRCh38]
Chr7:42003680 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.827-6T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000264891]|Pallister-Hall syndrome [RCV000356069]|Polydactyly [RCV000322379] |
Chr7:42040245 [GRCh38]
Chr7:42079844 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.-78G>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000265471]|Pallister-Hall syndrome [RCV000301835]|Polydactyly [RCV000361352] |
Chr7:42237006 [GRCh38]
Chr7:42276605 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3119A>T (p.Glu1040Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001162753]|Pallister-Hall syndrome [RCV001162752]|Polydactyly [RCV001162754]|not specified [RCV000359414] |
Chr7:41965954 [GRCh38]
Chr7:42005552 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2826G>T (p.Pro942=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001078832]|not provided [RCV000396560] |
Chr7:41966247 [GRCh38]
Chr7:42005845 [GRCh37]
Chr7:7p14.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.*512C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000266303]|Pallister-Hall syndrome [RCV000323805]|Polydactyly [RCV000381784] |
Chr7:41963818 [GRCh38]
Chr7:42003416 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002494821]|Greig cephalopolysyndactyly syndrome [RCV002518846]|Inborn genetic diseases [RCV003258718]|not provided [RCV000361427] |
Chr7:41967827 [GRCh38]
Chr7:42007425 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1498-6C>A |
single nucleotide variant |
not provided [RCV000397394] |
Chr7:41978754 [GRCh38]
Chr7:42018353 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2508G>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000266667]|Pallister-Hall syndrome [RCV000326535]|Polydactyly [RCV000381138] |
Chr7:41961822 [GRCh38]
Chr7:42001420 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.-83C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000266701]|Pallister-Hall syndrome [RCV000317215]|Polydactyly [RCV000371885] |
Chr7:42237011 [GRCh38]
Chr7:42276610 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.223C>G (p.Pro75Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001366912]|Greig cephalopolysyndactyly syndrome [RCV002504000]|not provided [RCV000294796] |
Chr7:42148370 [GRCh38]
Chr7:42187969 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000541310]|Greig cephalopolysyndactyly syndrome [RCV002494818]|not provided [RCV001534311]|not specified [RCV000295615] |
Chr7:41977699 [GRCh38]
Chr7:42017298 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.-3A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000278943]|Pallister-Hall syndrome [RCV000338772]|Polydactyly [RCV000373546] |
Chr7:42223256 [GRCh38]
Chr7:42262855 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4560G>A (p.Ser1520=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002519273]|not provided [RCV000265139] |
Chr7:41964513 [GRCh38]
Chr7:42004111 [GRCh37]
Chr7:7p14.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) |
indel |
Greig cephalopolysyndactyly syndrome [RCV000544497]|Greig cephalopolysyndactyly syndrome [RCV002502142]|not provided [RCV001651320]|not specified [RCV000332595] |
Chr7:41965989..41965990 [GRCh38]
Chr7:42005587..42005588 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2652C>T (p.Gly884=) |
single nucleotide variant |
not provided [RCV000331772] |
Chr7:41966421 [GRCh38]
Chr7:42006019 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1263C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000358676]|Pallister-Hall syndrome [RCV000268564]|Polydactyly [RCV000301581] |
Chr7:41963067 [GRCh38]
Chr7:42002665 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2741del (p.Gly914fs) |
deletion |
GLI3-Related Disorders [RCV000279878] |
Chr7:41966332 [GRCh38]
Chr7:42005930 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001085856]|Inborn genetic diseases [RCV002518885]|not provided [RCV000725297]|not specified [RCV000269527] |
Chr7:41965244 [GRCh38]
Chr7:42004842 [GRCh37]
Chr7:7p14.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.3243C>G (p.Asp1081Glu) |
single nucleotide variant |
not provided [RCV002288054] |
Chr7:41965830 [GRCh38]
Chr7:42005428 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1688C>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000391532]|Pallister-Hall syndrome [RCV000291411]|Polydactyly [RCV000346368] |
Chr7:41962642 [GRCh38]
Chr7:42002240 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2465G>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000346447]|Pallister-Hall syndrome [RCV000291493]|Polydactyly [RCV000386445] |
Chr7:41961865 [GRCh38]
Chr7:42001463 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.353T>C (p.Met118Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000315395]|Pallister-Hall syndrome [RCV000408372]|Polydactyly [RCV000350390] |
Chr7:42148240 [GRCh38]
Chr7:42187839 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2419T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000292673]|Pallister-Hall syndrome [RCV000407181]|Polydactyly [RCV000352187] |
Chr7:41961911 [GRCh38]
Chr7:42001509 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1111G>C (p.Gly371Arg) |
single nucleotide variant |
not provided [RCV000521362] |
Chr7:42026330 [GRCh38]
Chr7:42065929 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2257A>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000330544]|Pallister-Hall syndrome [RCV000389796]|Polydactyly [RCV000295506] |
Chr7:41962073 [GRCh38]
Chr7:42001671 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1007G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000342739]|Pallister-Hall syndrome [RCV000408019]|Polydactyly [RCV000307786] |
Chr7:41963323 [GRCh38]
Chr7:42002921 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.-94C>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000332966]|Pallister-Hall syndrome [RCV000355111]|Polydactyly [RCV000260122] |
Chr7:42237022 [GRCh38]
Chr7:42276621 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*3369C>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000407868]|Pallister-Hall syndrome [RCV000285854]|Polydactyly [RCV000334600] |
Chr7:41960961 [GRCh38]
Chr7:42000559 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1027C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000285922]|Pallister-Hall syndrome [RCV000339763]|Polydactyly [RCV000408018] |
Chr7:41963303 [GRCh38]
Chr7:42002901 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*66G>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000309270]|Pallister-Hall syndrome [RCV000344020]|Polydactyly [RCV000408232] |
Chr7:41964264 [GRCh38]
Chr7:42003862 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1471C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000298458]|Pallister-Hall syndrome [RCV000353368]|Polydactyly [RCV000403449] |
Chr7:41962859 [GRCh38]
Chr7:42002457 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*974T>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000364814]|Pallister-Hall syndrome [RCV000310967]|Polydactyly [RCV000404603] |
Chr7:41963356 [GRCh38]
Chr7:42002954 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.5(GLI3):c.*3392G>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000277996]|Pallister-Hall syndrome [RCV000367881]|Polydactyly [RCV000308574]|not provided [RCV001718800] |
Chr7:41960938 [GRCh38]
Chr7:42000536 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.641C>T (p.Ser214Phe) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000399679]|Pallister-Hall syndrome [RCV000341674]|Polydactyly [RCV000288976] |
Chr7:42048529 [GRCh38]
Chr7:42088128 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4590C>T (p.Asn1530=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000384316]|Pallister-Hall syndrome [RCV000326195]|Polydactyly [RCV000289868] |
Chr7:41964483 [GRCh38]
Chr7:42004081 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.-47C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000400341]|Pallister-Hall syndrome [RCV000313234]|Polydactyly [RCV000345019] |
Chr7:42236975 [GRCh38]
Chr7:42276574 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2585G>A (p.Arg862His) |
single nucleotide variant |
not provided [RCV000519822] |
Chr7:41966488 [GRCh38]
Chr7:42006086 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1366C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000290654]|Pallister-Hall syndrome [RCV000386041]|Polydactyly [RCV000350150] |
Chr7:41962964 [GRCh38]
Chr7:42002562 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2676C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000314080]|Pallister-Hall syndrome [RCV000354630]|Polydactyly [RCV000404934] |
Chr7:41961654 [GRCh38]
Chr7:42001252 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3771del (p.Leu1258fs) |
deletion |
not provided [RCV000520565] |
Chr7:41965302 [GRCh38]
Chr7:42004900 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4619C>A (p.Thr1540Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002491190]|not provided [RCV000592798] |
Chr7:41964454 [GRCh38]
Chr7:42004052 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1191_1206del (p.Thr398fs) |
deletion |
not provided [RCV000598716] |
Chr7:42026235..42026250 [GRCh38]
Chr7:42065834..42065849 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1452G>A (p.Trp484Ter) |
single nucleotide variant |
not provided [RCV000599260] |
Chr7:42023513 [GRCh38]
Chr7:42063112 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002491173]|Greig cephalopolysyndactyly syndrome [RCV002530989]|not provided [RCV000598483] |
Chr7:41966533 [GRCh38]
Chr7:42006131 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2856C>T (p.Ser952=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000532995] |
Chr7:41966217 [GRCh38]
Chr7:42005815 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1008C>A (p.His336Gln) |
single nucleotide variant |
not provided [RCV000733769] |
Chr7:42040058 [GRCh38]
Chr7:42079657 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1002T>A (p.Tyr334Ter) |
single nucleotide variant |
not provided [RCV000733770] |
Chr7:42040064 [GRCh38]
Chr7:42079663 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2252del (p.Asp751fs) |
deletion |
Polydactyly, postaxial, type A1 [RCV000415028] |
Chr7:41967775 [GRCh38]
Chr7:42007373 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2003C>G (p.Pro668Arg) |
single nucleotide variant |
not provided [RCV000728876] |
Chr7:41972437 [GRCh38]
Chr7:42012036 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.29C>A (p.Thr10Asn) |
single nucleotide variant |
not provided [RCV000594890] |
Chr7:42223225 [GRCh38]
Chr7:42262824 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001044472]|Greig cephalopolysyndactyly syndrome [RCV002485899]|not provided [RCV000731752] |
Chr7:41967853 [GRCh38]
Chr7:42007451 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3756G>A (p.Pro1252=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003768216]|not provided [RCV000731850] |
Chr7:41965317 [GRCh38]
Chr7:42004915 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.313C>T (p.Arg105Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002523932]|not specified [RCV000413583] |
Chr7:42148280 [GRCh38]
Chr7:42187879 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1919A>G (p.Lys640Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000806041] |
Chr7:41972521 [GRCh38]
Chr7:42012120 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| TMEM106B-BRAF fusion |
deletion |
Pleomorphic xanthoastrocytoma [RCV000454357] |
Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34 |
pathogenic |
| GRCh37/hg19 7p14.1(chr7:42226378-42244825)x3 |
copy number gain |
See cases [RCV000446363] |
Chr7:42226378..42244825 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 |
copy number loss |
See cases [RCV000446941] |
Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3 |
pathogenic |
| GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 |
copy number loss |
See cases [RCV000446955] |
Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13 |
pathogenic |
| NM_000168.6(GLI3):c.2331C>T (p.His777=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002525527]|not provided [RCV000434244] |
Chr7:41967696 [GRCh38]
Chr7:42007294 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.680-10C>T |
single nucleotide variant |
not specified [RCV000445058] |
Chr7:42045540 [GRCh38]
Chr7:42085139 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2006C>T (p.Thr669Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000883417]|not provided [RCV001703769]|not specified [RCV000438090] |
Chr7:41972434 [GRCh38]
Chr7:42012033 [GRCh37]
Chr7:7p14.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002056677]|Inborn genetic diseases [RCV002525514]|not provided [RCV000428276] |
Chr7:41972471 [GRCh38]
Chr7:42012070 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.1242+16C>T |
single nucleotide variant |
not specified [RCV000432072] |
Chr7:42026183 [GRCh38]
Chr7:42065782 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV000634034]|Greig cephalopolysyndactyly syndrome [RCV000656366]|not provided [RCV000432432] |
Chr7:41964641..41964642 [GRCh38]
Chr7:42004239..42004240 [GRCh37]
Chr7:7p14.1 |
pathogenic|likely pathogenic |
| NM_000168.6(GLI3):c.1287G>A (p.Pro429=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001402373]|not specified [RCV000426282] |
Chr7:42025333 [GRCh38]
Chr7:42064932 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4436T>C (p.Leu1479Ser) |
single nucleotide variant |
Cronkhite-Canada syndrome [RCV000416500] |
Chr7:41964637 [GRCh38]
Chr7:42004235 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| GRCh37/hg19 7p14.1(chr7:42226378-42239808)x3 |
copy number gain |
See cases [RCV000448333] |
Chr7:42226378..42239808 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2000G>T (p.Arg667Leu) |
single nucleotide variant |
Global developmental delay [RCV000416503]|Greig cephalopolysyndactyly syndrome [RCV001255817]|Greig cephalopolysyndactyly syndrome [RCV002502450]|Inborn genetic diseases [RCV001266646]|not provided [RCV002469146] |
Chr7:41972440 [GRCh38]
Chr7:42012039 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 |
copy number gain |
See cases [RCV000512091] |
Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1 |
pathogenic |
| NM_000168.6(GLI3):c.3635del (p.Gly1212fs) |
deletion |
Polydactyly, postaxial, type A1 [RCV000454366] |
Chr7:41965438 [GRCh38]
Chr7:42005036 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3140_3141delinsCA (p.Gln1047Pro) |
indel |
Greig cephalopolysyndactyly syndrome [RCV002481531]|not specified [RCV000486434] |
Chr7:41965932..41965933 [GRCh38]
Chr7:42005530..42005531 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4665dup (p.Asn1556fs) |
duplication |
not provided [RCV000478594] |
Chr7:41964407..41964408 [GRCh38]
Chr7:42004005..42004006 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1464_1489dup (p.Leu497fs) |
duplication |
not provided [RCV000486221] |
Chr7:42023475..42023476 [GRCh38]
Chr7:42063074..42063075 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2901del (p.Val968fs) |
deletion |
not provided [RCV000486324] |
Chr7:41966172 [GRCh38]
Chr7:42005770 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4740A>G (p.Gln1580=) |
single nucleotide variant |
GLI3-related condition [RCV003892135]|Greig cephalopolysyndactyly syndrome [RCV000553815] |
Chr7:41964333 [GRCh38]
Chr7:42003931 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1578del (p.Phe527fs) |
deletion |
not provided [RCV000479622] |
Chr7:41978668 [GRCh38]
Chr7:42018267 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4145G>A (p.Gly1382Asp) |
single nucleotide variant |
not provided [RCV000483158] |
Chr7:41964928 [GRCh38]
Chr7:42004526 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2071C>T (p.Gln691Ter) |
single nucleotide variant |
not provided [RCV000498734] |
Chr7:41972369 [GRCh38]
Chr7:42011968 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3987C>T (p.Gly1329=) |
single nucleotide variant |
GLI3-related condition [RCV003925463]|Greig cephalopolysyndactyly syndrome [RCV000558382]|not provided [RCV001567055]|not specified [RCV000501027] |
Chr7:41965086 [GRCh38]
Chr7:42004684 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000503394] |
Chr7:41966388 [GRCh38]
Chr7:42005986 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000764714]|not specified [RCV000503551] |
Chr7:41965789 [GRCh38]
Chr7:42005387 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1182A>G (p.Pro394=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002524190]|not provided [RCV000726840]|not specified [RCV000499402] |
Chr7:42026259 [GRCh38]
Chr7:42065858 [GRCh37]
Chr7:7p14.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000168.6(GLI3):c.3970G>C (p.Ala1324Pro) |
single nucleotide variant |
not specified [RCV000500051] |
Chr7:41965103 [GRCh38]
Chr7:42004701 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002524191]|Inborn genetic diseases [RCV003343870]|not specified [RCV000500463] |
Chr7:41965975 [GRCh38]
Chr7:42005573 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) |
copy number gain |
See cases [RCV000510686] |
Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_000168.6(GLI3):c.1593T>C (p.Tyr531=) |
single nucleotide variant |
not specified [RCV000503162] |
Chr7:41978653 [GRCh38]
Chr7:42018252 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2726C>G (p.Ala909Gly) |
single nucleotide variant |
Congenital diaphragmatic hernia [RCV000578089] |
Chr7:41966347 [GRCh38]
Chr7:42005945 [GRCh37]
Chr7:7p14.1 |
risk factor |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 |
copy number gain |
See cases [RCV000511549] |
Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_000168.6(GLI3):c.3147C>G (p.Tyr1049Ter) |
single nucleotide variant |
not provided [RCV000578645] |
Chr7:41965926 [GRCh38]
Chr7:42005524 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634030] |
Chr7:41965749 [GRCh38]
Chr7:42005347 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634031]|not provided [RCV001584461] |
Chr7:41965994 [GRCh38]
Chr7:42005592 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1028+1G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634032]|Polydactyly, postaxial, type A1 [RCV001450021] |
Chr7:42040037 [GRCh38]
Chr7:42079636 [GRCh37]
Chr7:7p14.1 |
pathogenic|likely pathogenic |
| NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634033]|Inborn genetic diseases [RCV002528864] |
Chr7:42023491 [GRCh38]
Chr7:42063090 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634035]|not provided [RCV001093382] |
Chr7:41972566 [GRCh38]
Chr7:42012165 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4638A>G (p.Pro1546=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634047] |
Chr7:41964435 [GRCh38]
Chr7:42004033 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000534571]|Greig cephalopolysyndactyly syndrome [RCV002497080] |
Chr7:41965250 [GRCh38]
Chr7:42004848 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4395del (p.Ser1466fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000534797] |
Chr7:41964678 [GRCh38]
Chr7:42004276 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2104-8C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003767668]|not specified [RCV000605821] |
Chr7:41967931 [GRCh38]
Chr7:42007529 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1142T>C (p.Ile381Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003290644] |
Chr7:42026299 [GRCh38]
Chr7:42065898 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3740A>G (p.Gln1247Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003287864] |
Chr7:41965333 [GRCh38]
Chr7:42004931 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.772G>T (p.Ala258Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003275674] |
Chr7:42045438 [GRCh38]
Chr7:42085037 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000608659]|Greig cephalopolysyndactyly syndrome [RCV002506487] |
Chr7:42025277 [GRCh38]
Chr7:42064876 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3453C>T (p.Pro1151=) |
single nucleotide variant |
not specified [RCV000602123] |
Chr7:41965620 [GRCh38]
Chr7:42005218 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2032G>T (p.Asp678Tyr) |
single nucleotide variant |
not provided [RCV000594418] |
Chr7:41972408 [GRCh38]
Chr7:42012007 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3115G>A (p.Ala1039Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000557052] |
Chr7:41965958 [GRCh38]
Chr7:42005556 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2615C>G (p.Ser872Cys) |
single nucleotide variant |
not provided [RCV003314784] |
Chr7:41966458 [GRCh38]
Chr7:42006056 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1177A>G (p.Ile393Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000535403] |
Chr7:42026264 [GRCh38]
Chr7:42065863 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.124+10A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001405010]|not specified [RCV000614643] |
Chr7:42223120 [GRCh38]
Chr7:42262719 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) |
single nucleotide variant |
GLI3-related condition [RCV003917912]|Greig cephalopolysyndactyly syndrome [RCV001165403]|Greig cephalopolysyndactyly syndrome [RCV002531513]|Pallister-Hall syndrome [RCV001163299]|Polydactyly [RCV001165404]|not specified [RCV000614792] |
Chr7:42048607 [GRCh38]
Chr7:42088206 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3620G>A (p.Ser1207Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003310742] |
Chr7:41965453 [GRCh38]
Chr7:42005051 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.750del (p.Tyr251fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000627064] |
Chr7:42045460 [GRCh38]
Chr7:42085059 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.847A>T (p.Arg283Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634036] |
Chr7:42040219 [GRCh38]
Chr7:42079818 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3669C>T (p.Tyr1223=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000634043] |
Chr7:41965404 [GRCh38]
Chr7:42005002 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3804C>T (p.Leu1268=) |
single nucleotide variant |
GLI3-related condition [RCV003892434]|Greig cephalopolysyndactyly syndrome [RCV000634046] |
Chr7:41965269 [GRCh38]
Chr7:42004867 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1242+6del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000634048] |
Chr7:42026193 [GRCh38]
Chr7:42065792 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3351G>A (p.Pro1117=) |
single nucleotide variant |
GLI3-related condition [RCV003942669]|Greig cephalopolysyndactyly syndrome [RCV001413484]|not provided [RCV000513484] |
Chr7:41965722 [GRCh38]
Chr7:42005320 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3549C>T (p.Pro1183=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003790875] |
Chr7:41965524 [GRCh38]
Chr7:42005122 [GRCh37]
Chr7:7p14.1 |
likely benign |
| GRCh37/hg19 7p14.1(chr7:42156923-42225427)x1 |
copy number loss |
not provided [RCV000682771] |
Chr7:42156923..42225427 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| GRCh37/hg19 7p14.1(chr7:42255311-42634746)x3 |
copy number gain |
not provided [RCV000682837] |
Chr7:42255311..42634746 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs) |
indel |
Greig cephalopolysyndactyly syndrome [RCV000700476] |
Chr7:41965161..41965169 [GRCh38]
Chr7:42004759..42004767 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000701080] |
Chr7:42023514 [GRCh38]
Chr7:42063113 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 |
copy number gain |
not provided [RCV000682909] |
Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13 |
pathogenic |
| NM_000168.6(GLI3):c.272A>G (p.His91Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000702629] |
Chr7:42148321 [GRCh38]
Chr7:42187920 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000686853] |
Chr7:41964575 [GRCh38]
Chr7:42004173 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3790G>A (p.Ala1264Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000702272] |
Chr7:41965283 [GRCh38]
Chr7:42004881 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NC_000007.14:g.(?_42048471)_(42148488_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000708127] |
Chr7:42048471..42148488 [GRCh38]
Chr7:42088070..42188087 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1184G>A (p.Gly395Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000706595] |
Chr7:42026257 [GRCh38]
Chr7:42065856 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.659G>A (p.Arg220His) |
single nucleotide variant |
GLI3-related condition [RCV003403606]|Greig cephalopolysyndactyly syndrome [RCV000692750] |
Chr7:42048511 [GRCh38]
Chr7:42088110 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3122A>G (p.Lys1041Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000693216] |
Chr7:41965951 [GRCh38]
Chr7:42005549 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000703711]|Inborn genetic diseases [RCV002536373] |
Chr7:41965564 [GRCh38]
Chr7:42005162 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.4007_4009delinsAGT (p.Gly1336_Ala1337delinsGluSer) |
indel |
not provided [RCV000723114] |
Chr7:41965064..41965066 [GRCh38]
Chr7:42004662..42004664 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv |
inversion |
Childhood apraxia of speech [RCV000234948] |
Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 |
copy number gain |
not provided [RCV000746278] |
Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 |
copy number gain |
not provided [RCV000746280] |
Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_000168.6(GLI3):c.45A>T (p.Lys15Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001543685] |
Chr7:42223209 [GRCh38]
Chr7:42262808 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2233G>A (p.Asp745Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002568166]|not provided [RCV001529531] |
Chr7:41967794 [GRCh38]
Chr7:42007392 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3579C>T (p.Phe1193=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001480071] |
Chr7:41965494 [GRCh38]
Chr7:42005092 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.565C>T (p.Pro189Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002064776]|not provided [RCV000874730] |
Chr7:42048605 [GRCh38]
Chr7:42088204 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4037_4046dup (p.Ser1349delinsArgAlaAspTer) |
duplication |
not provided [RCV000762450] |
Chr7:41965026..41965027 [GRCh38]
Chr7:42004624..42004625 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2881G>A (p.Gly961Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002493394]|not provided [RCV000762451] |
Chr7:41966192 [GRCh38]
Chr7:42005790 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4317C>A (p.Tyr1439Ter) |
single nucleotide variant |
not provided [RCV000760565] |
Chr7:41964756 [GRCh38]
Chr7:42004354 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.1812+314C>T |
single nucleotide variant |
not provided [RCV001576965] |
Chr7:41977244 [GRCh38]
Chr7:42016843 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001044473]|Greig cephalopolysyndactyly syndrome [RCV002481913] |
Chr7:41965196 [GRCh38]
Chr7:42004794 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2735G>A (p.Ser912Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002569037]|not provided [RCV001567363] |
Chr7:41966338 [GRCh38]
Chr7:42005936 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1527G>C (p.Glu509Asp) |
single nucleotide variant |
Disorder of sexual differentiation [RCV001568324]|GLI3-related postaxial polydactyly [RCV000984967] |
Chr7:41978719 [GRCh38]
Chr7:42018318 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.100G>A (p.Val34Ile) |
single nucleotide variant |
not provided [RCV001597512] |
Chr7:42223154 [GRCh38]
Chr7:42262753 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3183C>G (p.His1061Gln) |
single nucleotide variant |
not provided [RCV000903374] |
Chr7:41965890 [GRCh38]
Chr7:42005488 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.480C>T (p.Ser160=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001158675]|Greig cephalopolysyndactyly syndrome [RCV001469247]|Pallister-Hall syndrome [RCV001161888]|Polydactyly [RCV001158676] |
Chr7:42048690 [GRCh38]
Chr7:42088289 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3054G>A (p.Leu1018=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002502895]|Greig cephalopolysyndactyly syndrome [RCV003768908] |
Chr7:41966019 [GRCh38]
Chr7:42005617 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3986G>T (p.Gly1329Val) |
single nucleotide variant |
not provided [RCV000880276] |
Chr7:41965087 [GRCh38]
Chr7:42004685 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.168C>T (p.Asn56=) |
single nucleotide variant |
GLI3-related condition [RCV003935922]|Greig cephalopolysyndactyly syndrome [RCV002066360]|Greig cephalopolysyndactyly syndrome [RCV002489345]|not provided [RCV000959748] |
Chr7:42148425 [GRCh38]
Chr7:42188024 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.445G>A (p.Asp149Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000983372] |
Chr7:42076780 [GRCh38]
Chr7:42116379 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3852C>T (p.Thr1284=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000945497] |
Chr7:41965221 [GRCh38]
Chr7:42004819 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.825T>C (p.Asp275=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161771]|Pallister-Hall syndrome [RCV001161769]|Polydactyly [RCV001161770]|not provided [RCV000945525] |
Chr7:42045385 [GRCh38]
Chr7:42084984 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1357-9T>A |
single nucleotide variant |
GLI3-related condition [RCV003910764]|Greig cephalopolysyndactyly syndrome [RCV002502667]|Greig cephalopolysyndactyly syndrome [RCV002542062] |
Chr7:42023617 [GRCh38]
Chr7:42063216 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.558C>T (p.Ser186=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002548272] |
Chr7:42048612 [GRCh38]
Chr7:42088211 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1779C>T (p.Arg593=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000920988] |
Chr7:41977591 [GRCh38]
Chr7:42017190 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3889C>T (p.Leu1297=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000882168] |
Chr7:41965184 [GRCh38]
Chr7:42004782 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.30C>T (p.Thr10=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001502275]|Greig cephalopolysyndactyly syndrome [RCV002489283] |
Chr7:42223224 [GRCh38]
Chr7:42262823 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4654A>C (p.Met1552Leu) |
single nucleotide variant |
GLI3-related condition [RCV003962959]|Greig cephalopolysyndactyly syndrome [RCV000983815]|Inborn genetic diseases [RCV003353105] |
Chr7:41964419 [GRCh38]
Chr7:42004017 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.885del (p.Ile296fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001036674] |
Chr7:42040181 [GRCh38]
Chr7:42079780 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2098C>T (p.Pro700Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001038712] |
Chr7:41972342 [GRCh38]
Chr7:42011941 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3621C>A (p.Ser1207Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003310751] |
Chr7:41965452 [GRCh38]
Chr7:42005050 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001055857]|Greig cephalopolysyndactyly syndrome [RCV002482006] |
Chr7:41964364 [GRCh38]
Chr7:42003962 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3874del (p.Gln1292fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001056604]|Greig cephalopolysyndactyly syndrome [RCV003313984] |
Chr7:41965199 [GRCh38]
Chr7:42004797 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4019C>A (p.Pro1340His) |
single nucleotide variant |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome [RCV001007868] |
Chr7:41965054 [GRCh38]
Chr7:42004652 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2740_2748dup (p.Gly914_Pro916dup) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV001034025] |
Chr7:41966324..41966325 [GRCh38]
Chr7:42005922..42005923 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4636C>T (p.Pro1546Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001034194] |
Chr7:41964437 [GRCh38]
Chr7:42004035 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1473C>G (p.Phe491Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001034315] |
Chr7:42023492 [GRCh38]
Chr7:42063091 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1930G>A (p.Gly644Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000809141] |
Chr7:41972510 [GRCh38]
Chr7:42012109 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000806324] |
Chr7:42023531..42023532 [GRCh38]
Chr7:42063130..42063131 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3490del (p.Glu1164fs) |
deletion |
GLI3-Related Disorders [RCV000778830] |
Chr7:41965583 [GRCh38]
Chr7:42005181 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1222G>A (p.Gly408Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001500958] |
Chr7:42026219 [GRCh38]
Chr7:42065818 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3756G>C (p.Pro1252=) |
single nucleotide variant |
not provided [RCV000926353] |
Chr7:41965317 [GRCh38]
Chr7:42004915 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.636G>A (p.Ser212=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001412138] |
Chr7:42048534 [GRCh38]
Chr7:42088133 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.315C>T (p.Arg105=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000952633] |
Chr7:42148278 [GRCh38]
Chr7:42187877 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3624G>A (p.Gly1208=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000933067] |
Chr7:41965449 [GRCh38]
Chr7:42005047 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1206C>T (p.Pro402=) |
single nucleotide variant |
not provided [RCV000960773] |
Chr7:42026235 [GRCh38]
Chr7:42065834 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2625C>G (p.Arg875=) |
single nucleotide variant |
not provided [RCV000923850] |
Chr7:41966448 [GRCh38]
Chr7:42006046 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1062C>T (p.Pro354=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001858580] |
Chr7:42026379 [GRCh38]
Chr7:42065978 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2432-5T>C |
single nucleotide variant |
not provided [RCV000900415] |
Chr7:41966646 [GRCh38]
Chr7:42006244 [GRCh37]
Chr7:7p14.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.2706C>T (p.Ala902=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002489286]|Greig cephalopolysyndactyly syndrome [RCV002547182] |
Chr7:41966367 [GRCh38]
Chr7:42005965 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4629G>A (p.Ala1543=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003768896] |
Chr7:41964444 [GRCh38]
Chr7:42004042 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.546C>A (p.Pro182=) |
single nucleotide variant |
not provided [RCV000979201] |
Chr7:42048624 [GRCh38]
Chr7:42088223 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4698G>A (p.Leu1566=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003768771] |
Chr7:41964375 [GRCh38]
Chr7:42003973 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.567C>T (p.Pro189=) |
single nucleotide variant |
GLI3-related condition [RCV003948219]|Greig cephalopolysyndactyly syndrome [RCV002064775]|not provided [RCV000874729] |
Chr7:42048603 [GRCh38]
Chr7:42088202 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3141G>A (p.Gln1047=) |
single nucleotide variant |
not provided [RCV000921809] |
Chr7:41965932 [GRCh38]
Chr7:42005530 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1386G>A (p.Lys462=) |
single nucleotide variant |
GLI3-related condition [RCV003938320]|Greig cephalopolysyndactyly syndrome [RCV000872829] |
Chr7:42023579 [GRCh38]
Chr7:42063178 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1728C>T (p.Tyr576=) |
single nucleotide variant |
not provided [RCV000872907] |
Chr7:41977642 [GRCh38]
Chr7:42017241 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.963C>T (p.Leu321=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001163189]|Pallister-Hall syndrome [RCV001163188]|Polydactyly [RCV001163187]|not provided [RCV000872940] |
Chr7:42040103 [GRCh38]
Chr7:42079702 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000804320] |
Chr7:42025274 [GRCh38]
Chr7:42064873 [GRCh37]
Chr7:7p14.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000007.13:g.42007664del |
deletion |
not provided [RCV000841216] |
|
benign |
| NM_000168.6(GLI3):c.2431+123G>A |
single nucleotide variant |
not provided [RCV000841217] |
Chr7:41967473 [GRCh38]
Chr7:42007071 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4202del (p.Ser1401fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000856781] |
Chr7:41964871 [GRCh38]
Chr7:42004469 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.-42-149del |
deletion |
not provided [RCV000841193] |
Chr7:42223444 [GRCh38]
Chr7:42263043 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001204667]|Hyperreflexia [RCV000855672]|Inborn genetic diseases [RCV001266774]|not provided [RCV002067220] |
Chr7:41978624 [GRCh38]
Chr7:42018223 [GRCh37]
Chr7:7p14.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000168.6(GLI3):c.600C>T (p.Tyr200=) |
single nucleotide variant |
not provided [RCV000893287] |
Chr7:42048570 [GRCh38]
Chr7:42088169 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) |
single nucleotide variant |
GLI3-related condition [RCV003918272]|Greig cephalopolysyndactyly syndrome [RCV000797078]|Greig cephalopolysyndactyly syndrome [RCV001849447]|Greig cephalopolysyndactyly syndrome [RCV002495052] |
Chr7:42048631 [GRCh38]
Chr7:42088230 [GRCh37]
Chr7:7p14.1 |
likely pathogenic|benign|uncertain significance |
| NM_000168.6(GLI3):c.1357-4T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001503238] |
Chr7:42023612 [GRCh38]
Chr7:42063211 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.125-263A>G |
single nucleotide variant |
not provided [RCV000843323] |
Chr7:42148731 [GRCh38]
Chr7:42188330 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.974G>A (p.Arg325His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002481793]|not provided [RCV000998791] |
Chr7:42040092 [GRCh38]
Chr7:42079691 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4245C>T (p.Thr1415=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002544512] |
Chr7:41964828 [GRCh38]
Chr7:42004426 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NC_000007.14:g.42026428dup |
duplication |
not provided [RCV000839252] |
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000799089] |
Chr7:42045457 [GRCh38]
Chr7:42085056 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4649T>C (p.Leu1550Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000815947]|Inborn genetic diseases [RCV002534880] |
Chr7:41964424 [GRCh38]
Chr7:42004022 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| GRCh37/hg19 7p14.1(chr7:40198215-43252984)x3 |
copy number gain |
not provided [RCV000849081] |
Chr7:40198215..43252984 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1992G>A (p.Ser664=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000816681] |
Chr7:41972448 [GRCh38]
Chr7:42012047 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.368-248C>T |
single nucleotide variant |
not provided [RCV000841196] |
Chr7:42077105 [GRCh38]
Chr7:42116704 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000822914]|not provided [RCV001579780] |
Chr7:42026345 [GRCh38]
Chr7:42065944 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.827-181C>T |
single nucleotide variant |
not provided [RCV000841736] |
Chr7:42040420 [GRCh38]
Chr7:42080019 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1356+64C>A |
single nucleotide variant |
not provided [RCV000841737] |
Chr7:42025200 [GRCh38]
Chr7:42064799 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1778del (p.Arg593fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV000796308] |
Chr7:41977592 [GRCh38]
Chr7:42017191 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.680-14_680-13del |
deletion |
not provided [RCV000840254] |
Chr7:42045543..42045544 [GRCh38]
Chr7:42085142..42085143 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.935C>T (p.Thr312Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001165281]|Greig cephalopolysyndactyly syndrome [RCV003769799]|Pallister-Hall syndrome [RCV001165282]|Polydactyly [RCV001165280] |
Chr7:42040131 [GRCh38]
Chr7:42079730 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*28C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159577]|Pallister-Hall syndrome [RCV001164510]|Polydactyly [RCV001164509] |
Chr7:41964302 [GRCh38]
Chr7:42003900 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001165055]|Polydactyly [RCV001165054] |
Chr7:41972483 [GRCh38]
Chr7:42012082 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1497+256C>T |
single nucleotide variant |
not provided [RCV000828698] |
Chr7:42023212 [GRCh38]
Chr7:42062811 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.367+49TG[20] |
microsatellite |
Greig cephalopolysyndactyly syndrome [RCV000987865]|not provided [RCV001712839] |
Chr7:42148136..42148137 [GRCh38]
Chr7:42187735..42187736 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*2744T>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001163997]|Polydactyly [RCV001163998] |
Chr7:41961586 [GRCh38]
Chr7:42001184 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.826+255T>C |
single nucleotide variant |
not provided [RCV000843326] |
Chr7:42045129 [GRCh38]
Chr7:42084728 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1028+281G>T |
single nucleotide variant |
not provided [RCV000843327] |
Chr7:42039757 [GRCh38]
Chr7:42079356 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.781G>A (p.Ala261Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000812607]|Greig cephalopolysyndactyly syndrome [RCV002501108]|not provided [RCV001759572] |
Chr7:42045429 [GRCh38]
Chr7:42085028 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1647+226C>A |
single nucleotide variant |
not provided [RCV000841199] |
Chr7:41978373 [GRCh38]
Chr7:42017972 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1024A>G (p.Ile342Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000803045]|Greig cephalopolysyndactyly syndrome [RCV002487707] |
Chr7:42040042 [GRCh38]
Chr7:42079641 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2697C>T (p.Ser899=) |
single nucleotide variant |
not provided [RCV000919239] |
Chr7:41966376 [GRCh38]
Chr7:42005974 [GRCh37]
Chr7:7p14.1 |
likely benign |
| GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 |
copy number gain |
not provided [RCV000848126] |
Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p14.1(chr7:42174178-42319482)x3 |
copy number gain |
not provided [RCV000846052] |
Chr7:42174178..42319482 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001044661]|Greig cephalopolysyndactyly syndrome [RCV002481915] |
Chr7:41966450 [GRCh38]
Chr7:42006048 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4010del (p.Ala1337fs) |
deletion |
not provided [RCV001009115] |
Chr7:41965063 [GRCh38]
Chr7:42004661 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.-105A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001163511]|Polydactyly [RCV001163512] |
Chr7:42237033 [GRCh38]
Chr7:42276632 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4316_4724del (p.Tyr1439fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001221370] |
Chr7:41964349..41964757 [GRCh38]
Chr7:42003947..42004355 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4430_4439del (p.Ser1477fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001248778] |
Chr7:41964634..41964643 [GRCh38]
Chr7:42004232..42004241 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4385T>C (p.Ile1462Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003290824] |
Chr7:41964688 [GRCh38]
Chr7:42004286 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2005A>C (p.Thr669Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003291704] |
Chr7:41972435 [GRCh38]
Chr7:42012034 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2057G>A (p.Arg686Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003272234] |
Chr7:41972383 [GRCh38]
Chr7:42011982 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000987864] |
Chr7:41964997 [GRCh38]
Chr7:42004595 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001164940]|Greig cephalopolysyndactyly syndrome [RCV001245848]|Polydactyly [RCV001164941] |
Chr7:41966344 [GRCh38]
Chr7:42005942 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*386A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159468]|Polydactyly [RCV001159469] |
Chr7:41963944 [GRCh38]
Chr7:42003542 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159692]|Polydactyly [RCV001159691] |
Chr7:41965057 [GRCh38]
Chr7:42004655 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159799]|Inborn genetic diseases [RCV002557365]|Pallister-Hall syndrome [RCV001159798]|Polydactyly [RCV001159797] |
Chr7:41965451 [GRCh38]
Chr7:42005049 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001160022]|Polydactyly [RCV001161435] |
Chr7:41967652 [GRCh38]
Chr7:42007250 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.21C>T (p.Ser7=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001160137]|Polydactyly [RCV001160136] |
Chr7:42223233 [GRCh38]
Chr7:42262832 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161662]|Greig cephalopolysyndactyly syndrome [RCV002505740]|Polydactyly [RCV001161661] |
Chr7:42026384 [GRCh38]
Chr7:42065983 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2176G>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001164090]|Polydactyly [RCV001164089] |
Chr7:41962154 [GRCh38]
Chr7:42001752 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1356+10C>A |
single nucleotide variant |
GLI3-related condition [RCV003953542]|Greig cephalopolysyndactyly syndrome [RCV001158453]|Pallister-Hall syndrome [RCV001158455]|Polydactyly [RCV001158454] |
Chr7:42025254 [GRCh38]
Chr7:42064853 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3490G>T (p.Glu1164Ter) |
single nucleotide variant |
not provided [RCV003237157] |
Chr7:41965583 [GRCh38]
Chr7:42005181 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2798_2803dup (p.Ala934_Ala935insAspAla) |
duplication |
not provided [RCV003127111] |
Chr7:41966269..41966270 [GRCh38]
Chr7:42005867..42005868 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.473+210G>A |
single nucleotide variant |
not provided [RCV001576432] |
Chr7:42076542 [GRCh38]
Chr7:42116141 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.124+181G>T |
single nucleotide variant |
not provided [RCV001577501] |
Chr7:42222949 [GRCh38]
Chr7:42262548 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1463C>T (p.Ala488Val) |
single nucleotide variant |
GLI3-related condition [RCV003420543]|Greig cephalopolysyndactyly syndrome [RCV003106724] |
Chr7:42023502 [GRCh38]
Chr7:42063101 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.-42-257G>A |
single nucleotide variant |
not provided [RCV001574840] |
Chr7:42223552 [GRCh38]
Chr7:42263151 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1357-304_1357-303dup |
duplication |
not provided [RCV001575966] |
Chr7:42023903..42023904 [GRCh38]
Chr7:42063502..42063503 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.-42-55dup |
duplication |
not provided [RCV001638713] |
Chr7:42223336..42223337 [GRCh38]
Chr7:42262935..42262936 [GRCh37]
Chr7:7p14.1 |
benign |
| NC_000007.14:g.41960903C>T |
single nucleotide variant |
not provided [RCV001680935] |
Chr7:41960903 [GRCh38]
Chr7:42000501 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.679+156del |
deletion |
not provided [RCV001645256] |
Chr7:42048335 [GRCh38]
Chr7:42087934 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2103+177G>A |
single nucleotide variant |
not provided [RCV001560865] |
Chr7:41972160 [GRCh38]
Chr7:42011759 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1648-220del |
deletion |
not provided [RCV001597830] |
Chr7:41977942 [GRCh38]
Chr7:42017541 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.-42-42del |
deletion |
not provided [RCV001645631] |
Chr7:42223337 [GRCh38]
Chr7:42262936 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2104-209T>G |
single nucleotide variant |
not provided [RCV001638365] |
Chr7:41968132 [GRCh38]
Chr7:42007731 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.679+124T>C |
single nucleotide variant |
not provided [RCV001717533] |
Chr7:42048367 [GRCh38]
Chr7:42087966 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2431+258T>G |
single nucleotide variant |
not provided [RCV001550984] |
Chr7:41967338 [GRCh38]
Chr7:42006936 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3029G>A (p.Arg1010Gln) |
single nucleotide variant |
not provided [RCV001551115] |
Chr7:41966044 [GRCh38]
Chr7:42005642 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.367+49TG[19] |
microsatellite |
not provided [RCV001639996] |
Chr7:42148136..42148139 [GRCh38]
Chr7:42187735..42187738 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1356+228G>A |
single nucleotide variant |
not provided [RCV001614061] |
Chr7:42025036 [GRCh38]
Chr7:42064635 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3780G>A (p.Arg1260=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001494859] |
Chr7:41965293 [GRCh38]
Chr7:42004891 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2604G>C (p.Ser868=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001443587] |
Chr7:41966469 [GRCh38]
Chr7:42006067 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1028+3A>T |
single nucleotide variant |
GLI3-related condition [RCV003898002]|Greig cephalopolysyndactyly syndrome [RCV001506252]|not specified [RCV001819688] |
Chr7:42040035 [GRCh38]
Chr7:42079634 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3498C>T (p.Ser1166=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000922701] |
Chr7:41965575 [GRCh38]
Chr7:42005173 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4089C>T (p.Cys1363=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001461681]|Greig cephalopolysyndactyly syndrome [RCV002495366] |
Chr7:41964984 [GRCh38]
Chr7:42004582 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.936G>T (p.Thr312=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001416261] |
Chr7:42040130 [GRCh38]
Chr7:42079729 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3405A>T (p.Pro1135=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001480126] |
Chr7:41965668 [GRCh38]
Chr7:42005266 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2232C>A (p.Ile744=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002068702] |
Chr7:41967795 [GRCh38]
Chr7:42007393 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) |
single nucleotide variant |
GLI3-related condition [RCV003970813]|Greig cephalopolysyndactyly syndrome [RCV002489344]|Greig cephalopolysyndactyly syndrome [RCV002548270]|not provided [RCV003432964] |
Chr7:41965812 [GRCh38]
Chr7:42005410 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2307G>A (p.Pro769=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002502662]|not provided [RCV000901736] |
Chr7:41967720 [GRCh38]
Chr7:42007318 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1356+10C>T |
single nucleotide variant |
GLI3-related condition [RCV003978087]|not provided [RCV000930719] |
Chr7:42025254 [GRCh38]
Chr7:42064853 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2966G>T (p.Arg989Leu) |
single nucleotide variant |
GLI3-related condition [RCV003978116]|Greig cephalopolysyndactyly syndrome [RCV000940359] |
Chr7:41966107 [GRCh38]
Chr7:42005705 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4638A>T (p.Pro1546=) |
single nucleotide variant |
not provided [RCV000951176] |
Chr7:41964435 [GRCh38]
Chr7:42004033 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1365C>T (p.Pro455=) |
single nucleotide variant |
GLI3-related condition [RCV003948212]|Greig cephalopolysyndactyly syndrome [RCV000874417]|Greig cephalopolysyndactyly syndrome [RCV002487921] |
Chr7:42023600 [GRCh38]
Chr7:42063199 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2605C>T (p.Pro869Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001046491] |
Chr7:41966468 [GRCh38]
Chr7:42006066 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3372C>T (p.His1124=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003769843]|not provided [RCV001171986] |
Chr7:41965701 [GRCh38]
Chr7:42005299 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1648-7T>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001158345]|Polydactyly [RCV001158346] |
Chr7:41977729 [GRCh38]
Chr7:42017328 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1221C>T (p.Ser407=) |
single nucleotide variant |
GLI3-related condition [RCV003938525]|Greig cephalopolysyndactyly syndrome [RCV001158457]|Pallister-Hall syndrome [RCV001158458]|Polydactyly [RCV001158456]|not provided [RCV001310962] |
Chr7:42026220 [GRCh38]
Chr7:42065819 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1315C>T (p.Pro439Ser) |
single nucleotide variant |
Pallister-Hall syndrome [RCV001199081] |
Chr7:42025305 [GRCh38]
Chr7:42064904 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.658C>T (p.Arg220Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001242651]|Greig cephalopolysyndactyly syndrome [RCV002484334] |
Chr7:42048512 [GRCh38]
Chr7:42088111 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*2612A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159081]|Polydactyly [RCV001159080] |
Chr7:41961718 [GRCh38]
Chr7:42001316 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3670G>A (p.Gly1224Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001207865] |
Chr7:41965403 [GRCh38]
Chr7:42005001 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161775]|Greig cephalopolysyndactyly syndrome [RCV003769777]|Polydactyly [RCV001161776] |
Chr7:42045434 [GRCh38]
Chr7:42085033 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*1399T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159287]|Polydactyly [RCV001159288] |
Chr7:41962931 [GRCh38]
Chr7:42002529 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*1332C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159289]|Polydactyly [RCV001160647] |
Chr7:41962998 [GRCh38]
Chr7:42002596 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*603A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001164410]|Pallister-Hall syndrome [RCV001162364]|Polydactyly [RCV001162363] |
Chr7:41963727 [GRCh38]
Chr7:42003325 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*333A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159471]|Polydactyly [RCV001159470] |
Chr7:41963997 [GRCh38]
Chr7:42003595 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2004G>A (p.Pro668=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001162976]|Greig cephalopolysyndactyly syndrome [RCV002067981]|Polydactyly [RCV001162977] |
Chr7:41972436 [GRCh38]
Chr7:42012035 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001164939]|Polydactyly [RCV001164938] |
Chr7:41966333 [GRCh38]
Chr7:42005931 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159916]|Greig cephalopolysyndactyly syndrome [RCV002032473]|Polydactyly [RCV001159915] |
Chr7:41966033 [GRCh38]
Chr7:42005631 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.368-7T>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001163414]|Greig cephalopolysyndactyly syndrome [RCV002558569]|Pallister-Hall syndrome [RCV001163413]|Polydactyly [RCV001163415] |
Chr7:42076864 [GRCh38]
Chr7:42116463 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.2720del (p.Ser907fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001223594] |
Chr7:41966353 [GRCh38]
Chr7:42005951 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001216988]|Greig cephalopolysyndactyly syndrome [RCV002497740] |
Chr7:41965482 [GRCh38]
Chr7:42005080 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001047574] |
Chr7:41964691 [GRCh38]
Chr7:42004289 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.698G>A (p.Ser233Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001034242] |
Chr7:42045512 [GRCh38]
Chr7:42085111 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4610G>A (p.Arg1537His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001218037] |
Chr7:41964463 [GRCh38]
Chr7:42004061 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.474-6A>G |
single nucleotide variant |
not provided [RCV000933582] |
Chr7:42048702 [GRCh38]
Chr7:42088301 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3768C>T (p.Asn1256=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV000911258] |
Chr7:41965305 [GRCh38]
Chr7:42004903 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.252A>G (p.Ser84=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002489247]|Greig cephalopolysyndactyly syndrome [RCV002544476] |
Chr7:42148341 [GRCh38]
Chr7:42187940 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3024G>A (p.Pro1008=) |
single nucleotide variant |
not provided [RCV000912352] |
Chr7:41966049 [GRCh38]
Chr7:42005647 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.679+281A>C |
single nucleotide variant |
not provided [RCV001556516] |
Chr7:42048210 [GRCh38]
Chr7:42087809 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2686G>C (p.Asp896His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002470432] |
Chr7:41966387 [GRCh38]
Chr7:42005985 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4217C>G (p.Ser1406Ter) |
single nucleotide variant |
not provided [RCV001665013] |
Chr7:41964856 [GRCh38]
Chr7:42004454 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.474-271T>C |
single nucleotide variant |
not provided [RCV001552795] |
Chr7:42048967 [GRCh38]
Chr7:42088566 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.124+61C>A |
single nucleotide variant |
not provided [RCV001635775] |
Chr7:42223069 [GRCh38]
Chr7:42262668 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3478A>G (p.Ile1160Val) |
single nucleotide variant |
not provided [RCV003231820] |
Chr7:41965595 [GRCh38]
Chr7:42005193 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1459T>A (p.Cys487Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002471384]|Greig cephalopolysyndactyly syndrome [RCV003775510] |
Chr7:42023506 [GRCh38]
Chr7:42063105 [GRCh37]
Chr7:7p14.1 |
likely pathogenic|uncertain significance |
| NM_000168.6(GLI3):c.2257A>G (p.Thr753Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002571433]|not provided [RCV002469707] |
Chr7:41967770 [GRCh38]
Chr7:42007368 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3734A>G (p.His1245Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002480878]|not provided [RCV001263258] |
Chr7:41965339 [GRCh38]
Chr7:42004937 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1243-261T>G |
single nucleotide variant |
not provided [RCV001659031] |
Chr7:42025638 [GRCh38]
Chr7:42065237 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.367+49TG[17] |
microsatellite |
not provided [RCV001608281] |
Chr7:42148136..42148143 [GRCh38]
Chr7:42187735..42187742 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.827-204C>T |
single nucleotide variant |
not provided [RCV001636568] |
Chr7:42040443 [GRCh38]
Chr7:42080042 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.679+212C>T |
single nucleotide variant |
not provided [RCV001593625] |
Chr7:42048279 [GRCh38]
Chr7:42087878 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.367+49TG[23] |
microsatellite |
not provided [RCV001596126] |
Chr7:42148135..42148136 [GRCh38]
Chr7:42187734..42187735 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.826+154T>C |
single nucleotide variant |
not provided [RCV001677562] |
Chr7:42045230 [GRCh38]
Chr7:42084829 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.474-175T>G |
single nucleotide variant |
not provided [RCV001658685] |
Chr7:42048871 [GRCh38]
Chr7:42088470 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*9A>G |
single nucleotide variant |
GLI3-related condition [RCV003956321]|not provided [RCV001677085] |
Chr7:41964321 [GRCh38]
Chr7:42003919 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002488446]|Greig cephalopolysyndactyly syndrome [RCV003771819]|not provided [RCV001658809] |
Chr7:41965918 [GRCh38]
Chr7:42005516 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2103+245A>G |
single nucleotide variant |
not provided [RCV001658977] |
Chr7:41972092 [GRCh38]
Chr7:42011691 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.*1553T>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001162159]|Polydactyly [RCV001162158] |
Chr7:41962777 [GRCh38]
Chr7:42002375 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*73C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001164508]|Polydactyly [RCV001162462] |
Chr7:41964257 [GRCh38]
Chr7:42003855 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001162654]|Polydactyly [RCV001162655] |
Chr7:41965287 [GRCh38]
Chr7:42004885 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.864G>A (p.Pro288=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001158562]|Pallister-Hall syndrome [RCV001158561]|Polydactyly [RCV001158563] |
Chr7:42040202 [GRCh38]
Chr7:42079801 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161200]|Greig cephalopolysyndactyly syndrome [RCV002497591]|Polydactyly [RCV001161201] |
Chr7:41965795 [GRCh38]
Chr7:42005393 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2050T>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159187]|Pallister-Hall syndrome [RCV001159185]|Polydactyly [RCV001159186] |
Chr7:41962280 [GRCh38]
Chr7:42001878 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*889T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159380]|Polydactyly [RCV001159379] |
Chr7:41963441 [GRCh38]
Chr7:42003039 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159578]|Polydactyly [RCV001159579] |
Chr7:41964446 [GRCh38]
Chr7:42004044 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV001047710] |
Chr7:41965285..41965286 [GRCh38]
Chr7:42004883..42004884 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1462_1497+2dup |
duplication |
not provided [RCV001093383] |
Chr7:42023465..42023466 [GRCh38]
Chr7:42063064..42063065 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.*311T>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001160838]|Polydactyly [RCV001159475] |
Chr7:41964019 [GRCh38]
Chr7:42003617 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4008G>A (p.Gly1336=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159695]|Greig cephalopolysyndactyly syndrome [RCV002497590]|Pallister-Hall syndrome [RCV001159694]|Polydactyly [RCV001159693] |
Chr7:41965065 [GRCh38]
Chr7:42004663 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.*248T>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001160840]|Polydactyly [RCV001160839]|not provided [RCV001673021] |
Chr7:41964082 [GRCh38]
Chr7:42003680 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.125-333G>T |
single nucleotide variant |
not provided [RCV001671810] |
Chr7:42148801 [GRCh38]
Chr7:42188400 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2431+201dup |
duplication |
not provided [RCV001684120] |
Chr7:41967388..41967389 [GRCh38]
Chr7:42006986..42006987 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.91G>T (p.Glu31Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001071422] |
Chr7:42223163 [GRCh38]
Chr7:42262762 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.-43+224G>C |
single nucleotide variant |
not provided [RCV001648239] |
Chr7:42236747 [GRCh38]
Chr7:42276346 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.367+49TG[18] |
microsatellite |
not provided [RCV001648382] |
Chr7:42148136..42148141 [GRCh38]
Chr7:42187735..42187740 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.367+90GC[4] |
microsatellite |
not provided [RCV001645234] |
Chr7:42148130..42148131 [GRCh38]
Chr7:42187729..42187730 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.783C>T (p.Ala261=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161772]|Greig cephalopolysyndactyly syndrome [RCV003769776]|Pallister-Hall syndrome [RCV001161774]|Polydactyly [RCV001161773] |
Chr7:42045427 [GRCh38]
Chr7:42085026 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*2861T>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161984]|Polydactyly [RCV001161983] |
Chr7:41961469 [GRCh38]
Chr7:42001067 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3083_3084del (p.Ser1028fs) |
deletion |
not provided [RCV001666496] |
Chr7:41965989..41965990 [GRCh38]
Chr7:42005587..42005588 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2981C>G (p.Pro994Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001034167] |
Chr7:41966092 [GRCh38]
Chr7:42005690 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2189T>G (p.Leu730Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001034366] |
Chr7:41967838 [GRCh38]
Chr7:42007436 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.506C>T (p.Pro169Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001034454]|Greig cephalopolysyndactyly syndrome [RCV002489534] |
Chr7:42048664 [GRCh38]
Chr7:42088263 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4342G>A (p.Val1448Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001162556]|Inborn genetic diseases [RCV003163353]|Pallister-Hall syndrome [RCV001164609]|Polydactyly [RCV001164608] |
Chr7:41964731 [GRCh38]
Chr7:42004329 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.288C>T (p.His96=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001163701]|Greig cephalopolysyndactyly syndrome [RCV002480572]|Greig cephalopolysyndactyly syndrome [RCV002557400]|Pallister-Hall syndrome [RCV001163700]|Polydactyly [RCV001163699]|not provided [RCV003311952] |
Chr7:42148305 [GRCh38]
Chr7:42187904 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.1777C>G (p.Arg593Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001231721] |
Chr7:41977593 [GRCh38]
Chr7:42017192 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.320C>T (p.Thr107Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001217362] |
Chr7:42148273 [GRCh38]
Chr7:42187872 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3454del (p.Glu1152fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001054833] |
Chr7:41965619 [GRCh38]
Chr7:42005217 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2048C>T (p.Thr683Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003770220]|Pallister-Hall syndrome [RCV001198781] |
Chr7:41972392 [GRCh38]
Chr7:42011991 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2089G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159183]|Polydactyly [RCV001159184] |
Chr7:41962241 [GRCh38]
Chr7:42001839 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3857T>G (p.Met1286Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001036375] |
Chr7:41965216 [GRCh38]
Chr7:42004814 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*332T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159473]|Pallister-Hall syndrome [RCV001159474]|Polydactyly [RCV001159472]|not provided [RCV003425964] |
Chr7:41963998 [GRCh38]
Chr7:42003596 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.*1470A>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001164184]|Polydactyly [RCV001164185] |
Chr7:41962860 [GRCh38]
Chr7:42002458 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001159913]|Polydactyly [RCV001159914] |
Chr7:41966008 [GRCh38]
Chr7:42005606 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001051098]|Greig cephalopolysyndactyly syndrome [RCV002497400] |
Chr7:41964565 [GRCh38]
Chr7:42004163 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.*2517G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001160438]|Polydactyly [RCV001160437]|not provided [RCV003433060] |
Chr7:41961813 [GRCh38]
Chr7:42001411 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1497+1G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001041488]|not provided [RCV001093384] |
Chr7:42023467 [GRCh38]
Chr7:42063066 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| GRCh37/hg19 7p14.1(chr7:41430185-42807426)x1 |
copy number loss |
Greig cephalopolysyndactyly syndrome [RCV001004813] |
Chr7:41430185..42807426 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1540G>A (p.Val514Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161554]|Greig cephalopolysyndactyly syndrome [RCV002505739]|Polydactyly [RCV001161553] |
Chr7:41978706 [GRCh38]
Chr7:42018305 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1066T>C (p.Ser356Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161660]|Polydactyly [RCV001161659] |
Chr7:42026375 [GRCh38]
Chr7:42065974 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.877_881del (p.Thr293fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001063154] |
Chr7:42040185..42040189 [GRCh38]
Chr7:42079784..42079788 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.473+5G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001052560]|Polysyndactyly 4 [RCV001726427] |
Chr7:42076747 [GRCh38]
Chr7:42116346 [GRCh37]
Chr7:7p14.1 |
pathogenic|uncertain significance |
| NM_000168.6(GLI3):c.*3002A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001161981]|Polydactyly [RCV001161982] |
Chr7:41961328 [GRCh38]
Chr7:42000926 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4597C>A (p.His1533Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001211050]|Greig cephalopolysyndactyly syndrome [RCV002491647] |
Chr7:41964476 [GRCh38]
Chr7:42004074 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001255861] |
Chr7:41972578 [GRCh38]
Chr7:42012177 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.240C>T (p.Asp80=) |
single nucleotide variant |
GLI3-related condition [RCV003953610]|Greig cephalopolysyndactyly syndrome [RCV001501336]|Greig cephalopolysyndactyly syndrome [RCV002491860] |
Chr7:42148353 [GRCh38]
Chr7:42187952 [GRCh37]
Chr7:7p14.1 |
likely benign |
| GRCh37/hg19 7p14.1(chr7:42115857-42116915) |
copy number loss |
Greig cephalopolysyndactyly syndrome [RCV002280609] |
Chr7:42115857..42116915 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.455C>T (p.Pro152Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001255815]|Greig cephalopolysyndactyly syndrome [RCV002570601] |
Chr7:42076770 [GRCh38]
Chr7:42116369 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2962G>C (p.Gly988Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001255795] |
Chr7:41966111 [GRCh38]
Chr7:42005709 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1786C>T (p.His596Tyr) |
single nucleotide variant |
not provided [RCV001756640] |
Chr7:41977584 [GRCh38]
Chr7:42017183 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2709_2763del (p.Arg905fs) |
deletion |
Inborn genetic diseases [RCV001266063] |
Chr7:41966310..41966364 [GRCh38]
Chr7:42005908..42005962 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2690C>G (p.Pro897Arg) |
single nucleotide variant |
not provided [RCV001529818] |
Chr7:41966383 [GRCh38]
Chr7:42005981 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3624dup (p.Pro1209fs) |
duplication |
not provided [RCV001268589] |
Chr7:41965448..41965449 [GRCh38]
Chr7:42005046..42005047 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2647G>T (p.Glu883Ter) |
single nucleotide variant |
not provided [RCV001268507] |
Chr7:41966426 [GRCh38]
Chr7:42006024 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3414del (p.His1138fs) |
deletion |
polysyndactyly [RCV001255957] |
Chr7:41965659 [GRCh38]
Chr7:42005257 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.826+194C>T |
single nucleotide variant |
not provided [RCV001546055] |
Chr7:42045190 [GRCh38]
Chr7:42084789 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2431+270A>G |
single nucleotide variant |
not provided [RCV001565511] |
Chr7:41967326 [GRCh38]
Chr7:42006924 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2773C>T (p.Gln925Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001265902] |
Chr7:41966300 [GRCh38]
Chr7:42005898 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4148A>G (p.Tyr1383Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002002056] |
Chr7:41964925 [GRCh38]
Chr7:42004523 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| Single allele |
complex |
Ring chromosome 7 [RCV002280646] |
Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_000168.6(GLI3):c.3392_3397del (p.Ala1131_Pro1132del) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001315093] |
Chr7:41965676..41965681 [GRCh38]
Chr7:42005274..42005279 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4675A>G (p.Ile1559Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001321739] |
Chr7:41964398 [GRCh38]
Chr7:42003996 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2431+8C>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001392359] |
Chr7:41967588 [GRCh38]
Chr7:42007186 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1627G>A (p.Glu543Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001363427]|Greig cephalopolysyndactyly syndrome [RCV002471096] |
Chr7:41978619 [GRCh38]
Chr7:42018218 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NC_000007.13:g.(?_42187805)_(42262872_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001382338] |
Chr7:42187805..42262872 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.826+9C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001433222] |
Chr7:42045375 [GRCh38]
Chr7:42084974 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.789G>A (p.Thr263=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001364183] |
Chr7:42045421 [GRCh38]
Chr7:42085020 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3362_3363delinsCG (p.Lys1121Thr) |
indel |
Greig cephalopolysyndactyly syndrome [RCV001346772] |
Chr7:41965710..41965711 [GRCh38]
Chr7:42005308..42005309 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3078C>G (p.Ser1026Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001320418] |
Chr7:41965995 [GRCh38]
Chr7:42005593 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3358A>G (p.Ser1120Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001324336] |
Chr7:41965715 [GRCh38]
Chr7:42005313 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001344236]|Greig cephalopolysyndactyly syndrome [RCV002493764]|Inborn genetic diseases [RCV003263980] |
Chr7:41965462 [GRCh38]
Chr7:42005060 [GRCh37]
Chr7:7p14.1 |
benign|likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3133G>A (p.Val1045Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001315228] |
Chr7:41965940 [GRCh38]
Chr7:42005538 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.612C>G (p.Ile204Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001349664] |
Chr7:42048558 [GRCh38]
Chr7:42088157 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) |
copy number loss |
Syndactyly [RCV001352654] |
Chr7:41124364..47945566 [GRCh37]
Chr7:7p14.1-12.3 |
pathogenic |
| NM_000168.6(GLI3):c.678T>C (p.Asp226=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001413137] |
Chr7:42048492 [GRCh38]
Chr7:42088091 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NC_000007.13:g.(?_42088070)_(42188087_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001307814] |
Chr7:42088070..42188087 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2594C>G (p.Ser865Ter) |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV001450026] |
Chr7:41966479 [GRCh38]
Chr7:42006077 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1133dup (p.Pro379fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV001450027] |
Chr7:42026307..42026308 [GRCh38]
Chr7:42065906..42065907 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2928G>T (p.Pro976=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001413828] |
Chr7:41966145 [GRCh38]
Chr7:42005743 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.199G>A (p.Gly67Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001365816]|Greig cephalopolysyndactyly syndrome [RCV002488130] |
Chr7:42148394 [GRCh38]
Chr7:42187993 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1620C>T (p.His540=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001494001] |
Chr7:41978626 [GRCh38]
Chr7:42018225 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.528C>T (p.Ile176=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001475569]|Greig cephalopolysyndactyly syndrome [RCV002501641] |
Chr7:42048642 [GRCh38]
Chr7:42088241 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3365_3366del (p.Val1122fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001388671] |
Chr7:41965707..41965708 [GRCh38]
Chr7:42005305..42005306 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.699C>T (p.Ser233=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001409244] |
Chr7:42045511 [GRCh38]
Chr7:42085110 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1536G>A (p.Glu512=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001404502] |
Chr7:41978710 [GRCh38]
Chr7:42018309 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.827-2A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001379344] |
Chr7:42040241 [GRCh38]
Chr7:42079840 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.368-459_473+494del |
deletion |
Craniosynostosis syndrome [RCV001532999] |
Chr7:42076258..42077316 [GRCh38]
Chr7:42115857..42116915 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3162C>T (p.Gly1054=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001430972]|not provided [RCV001552787] |
Chr7:41965911 [GRCh38]
Chr7:42005509 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1647+56G>A |
single nucleotide variant |
not provided [RCV001534179] |
Chr7:41978543 [GRCh38]
Chr7:42018142 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1610T>G (p.Met537Arg) |
single nucleotide variant |
Hand polydactyly [RCV001526399] |
Chr7:41978636 [GRCh38]
Chr7:42018235 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4194_4204del (p.Arg1399fs) |
deletion |
not provided [RCV001596877] |
Chr7:41964869..41964879 [GRCh38]
Chr7:42004467..42004477 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001450018]|Inborn genetic diseases [RCV003264039]|Pallister-Hall syndrome [RCV002246386]|not provided [RCV002265029] |
Chr7:41972441 [GRCh38]
Chr7:42012040 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.758A>G (p.Asp253Gly) |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV001526463] |
Chr7:42045452 [GRCh38]
Chr7:42085051 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1880_1881del (p.His627fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002501578]|Polydactyly, postaxial, type A1 [RCV001450019] |
Chr7:41972559..41972560 [GRCh38]
Chr7:42012158..42012159 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1033_1048del (p.Ala345fs) |
deletion |
Polydactyly, postaxial, type A1 [RCV001450024] |
Chr7:42026393..42026408 [GRCh38]
Chr7:42065992..42066007 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2103+2T>A |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV001450025] |
Chr7:41972335 [GRCh38]
Chr7:42011934 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1880A>C (p.His627Pro) |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV001450028] |
Chr7:41972560 [GRCh38]
Chr7:42012159 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2059del (p.Glu687fs) |
deletion |
Polydactyly, postaxial, type A1 [RCV001450030] |
Chr7:41972381 [GRCh38]
Chr7:42011980 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.780C>T (p.Thr260=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001465349] |
Chr7:42045430 [GRCh38]
Chr7:42085029 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.827-10T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001503338] |
Chr7:42040249 [GRCh38]
Chr7:42079848 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.367+49TG[22] |
microsatellite |
not provided [RCV001675178] |
Chr7:42148135..42148136 [GRCh38]
Chr7:42187734..42187735 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.*265del |
deletion |
not provided [RCV001589450] |
Chr7:41964065 [GRCh38]
Chr7:42003663 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4104C>T (p.His1368=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001487141] |
Chr7:41964969 [GRCh38]
Chr7:42004567 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1464G>A (p.Ala488=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001521956] |
Chr7:42023501 [GRCh38]
Chr7:42063100 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1029-6G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001452556] |
Chr7:42026418 [GRCh38]
Chr7:42066017 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1648-230dup |
duplication |
not provided [RCV001674212] |
Chr7:41977941..41977942 [GRCh38]
Chr7:42017540..42017541 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3893C>T (p.Pro1298Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001513199] |
Chr7:41965180 [GRCh38]
Chr7:42004778 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1793dup (p.Asn598fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV001450020] |
Chr7:41977576..41977577 [GRCh38]
Chr7:42017175..42017176 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.901G>A (p.Asp301Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001452932] |
Chr7:42040165 [GRCh38]
Chr7:42079764 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2703C>T (p.Asp901=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001506330] |
Chr7:41966370 [GRCh38]
Chr7:42005968 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2604G>A (p.Ser868=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001417958] |
Chr7:41966469 [GRCh38]
Chr7:42006067 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2090del (p.Ala697fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001385743] |
Chr7:41972350 [GRCh38]
Chr7:42011949 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.972C>T (p.Ser324=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001457968] |
Chr7:42040094 [GRCh38]
Chr7:42079693 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NC_000007.13:g.(?_42116331)_(42188087_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001385078] |
Chr7:42116331..42188087 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.742C>T (p.Arg248Cys) |
single nucleotide variant |
not provided [RCV003127143] |
Chr7:42045468 [GRCh38]
Chr7:42085067 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4267A>T (p.Met1423Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003108435] |
Chr7:41964806 [GRCh38]
Chr7:42004404 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4383_4387del (p.Ile1462fs) |
deletion |
not provided [RCV001727396] |
Chr7:41964686..41964690 [GRCh38]
Chr7:42004284..42004288 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.3741G>T (p.Gln1247His) |
single nucleotide variant |
not provided [RCV001756249] |
Chr7:41965332 [GRCh38]
Chr7:42004930 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.186A>G (p.Pro62=) |
single nucleotide variant |
not provided [RCV001732440] |
Chr7:42148407 [GRCh38]
Chr7:42188006 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1550G>T (p.Trp517Leu) |
single nucleotide variant |
not provided [RCV001755086] |
Chr7:41978696 [GRCh38]
Chr7:42018295 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2314A>T (p.Thr772Ser) |
single nucleotide variant |
not provided [RCV001754814] |
Chr7:41967713 [GRCh38]
Chr7:42007311 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.793del (p.Ala265fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001730107] |
Chr7:42045417 [GRCh38]
Chr7:42085016 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.7G>T (p.Ala3Ser) |
single nucleotide variant |
not provided [RCV001754928] |
Chr7:42223247 [GRCh38]
Chr7:42262846 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1613G>A (p.Arg538Lys) |
single nucleotide variant |
not provided [RCV001761025] |
Chr7:41978633 [GRCh38]
Chr7:42018232 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3437_3453del (p.Leu1146fs) |
deletion |
not provided [RCV001783382] |
Chr7:41965620..41965636 [GRCh38]
Chr7:42005218..42005234 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1945C>T (p.Arg649Trp) |
single nucleotide variant |
not provided [RCV001764842] |
Chr7:41972495 [GRCh38]
Chr7:42012094 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2598del (p.Ile867fs) |
deletion |
Pallister-Hall syndrome [RCV001775307] |
Chr7:41966475 [GRCh38]
Chr7:42006073 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2740G>C (p.Gly914Arg) |
single nucleotide variant |
not provided [RCV001773135] |
Chr7:41966333 [GRCh38]
Chr7:42005931 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1525G>A (p.Glu509Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002488594]|Inborn genetic diseases [RCV002540525]|not provided [RCV001771209] |
Chr7:41978721 [GRCh38]
Chr7:42018320 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4450G>A (p.Ala1484Thr) |
single nucleotide variant |
not provided [RCV001764085] |
Chr7:41964623 [GRCh38]
Chr7:42004221 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2372C>T (p.Pro791Leu) |
single nucleotide variant |
not provided [RCV001773004] |
Chr7:41967655 [GRCh38]
Chr7:42007253 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3325G>T (p.Glu1109Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV001775287] |
Chr7:41965748 [GRCh38]
Chr7:42005346 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4453A>T (p.Asn1485Tyr) |
single nucleotide variant |
not provided [RCV001800069] |
Chr7:41964620 [GRCh38]
Chr7:42004218 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1180C>T (p.Pro394Ser) |
single nucleotide variant |
not provided [RCV001765642] |
Chr7:42026261 [GRCh38]
Chr7:42065860 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1084C>G (p.Gln362Glu) |
single nucleotide variant |
not provided [RCV001768939] |
Chr7:42026357 [GRCh38]
Chr7:42065956 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1135C>T (p.Pro379Ser) |
single nucleotide variant |
not provided [RCV001774502] |
Chr7:42026306 [GRCh38]
Chr7:42065905 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1706C>T (p.Ser569Phe) |
single nucleotide variant |
not provided [RCV001758220] |
Chr7:41977664 [GRCh38]
Chr7:42017263 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1813-3C>G |
single nucleotide variant |
not provided [RCV001752841] |
Chr7:41972630 [GRCh38]
Chr7:42012229 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1063G>A (p.Val355Ile) |
single nucleotide variant |
not provided [RCV001800003] |
Chr7:42026378 [GRCh38]
Chr7:42065977 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.507G>A (p.Pro169=) |
single nucleotide variant |
not specified [RCV001817102] |
Chr7:42048663 [GRCh38]
Chr7:42088262 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.*2358dup |
duplication |
not provided [RCV001779637] |
Chr7:41961971..41961972 [GRCh38]
Chr7:42001569..42001570 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3373G>C (p.Gly1125Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001864410] |
Chr7:41965700 [GRCh38]
Chr7:42005298 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1433A>G (p.Tyr478Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001970736] |
Chr7:42023532 [GRCh38]
Chr7:42063131 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4413del (p.Thr1472fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002042151] |
Chr7:41964660 [GRCh38]
Chr7:42004258 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.602_675del (p.Met201fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV001894291] |
Chr7:42048495..42048568 [GRCh38]
Chr7:42088094..42088167 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.294G>A (p.Ala98=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002043636] |
Chr7:42148299 [GRCh38]
Chr7:42187898 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.4543C>A (p.His1515Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001863355] |
Chr7:41964530 [GRCh38]
Chr7:42004128 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002002336]|Greig cephalopolysyndactyly syndrome [RCV002484774]|not provided [RCV003426264] |
Chr7:41965516 [GRCh38]
Chr7:42005114 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1459T>G (p.Cys487Gly) |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV002052146] |
Chr7:42023506 [GRCh38]
Chr7:42063105 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) |
copy number loss |
not specified [RCV002053688] |
Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2 |
pathogenic |
| GRCh37/hg19 7p14.1(chr7:41986326-42216822) |
copy number loss |
not specified [RCV002053689] |
Chr7:41986326..42216822 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001895418] |
Chr7:41964566 [GRCh38]
Chr7:42004164 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001871239]|Greig cephalopolysyndactyly syndrome [RCV002478207] |
Chr7:41964886 [GRCh38]
Chr7:42004484 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.245G>A (p.Arg82Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002077329]|Hepatoblastoma [RCV001843897]|not provided [RCV002291774] |
Chr7:42148348 [GRCh38]
Chr7:42187947 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4640T>A (p.Phe1547Tyr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001948241] |
Chr7:41964433 [GRCh38]
Chr7:42004031 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.233C>T (p.Ser78Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002482387]|Greig cephalopolysyndactyly syndrome [RCV003120719]|Hepatoblastoma [RCV001843896] |
Chr7:42148360 [GRCh38]
Chr7:42187959 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1253C>T (p.Thr418Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001984879]|Inborn genetic diseases [RCV002562076] |
Chr7:42025367 [GRCh38]
Chr7:42064966 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4556T>C (p.Met1519Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001892270] |
Chr7:41964517 [GRCh38]
Chr7:42004115 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001888445] |
Chr7:41972575 [GRCh38]
Chr7:42012174 [GRCh37]
Chr7:7p14.1 |
likely pathogenic|uncertain significance |
| NM_000168.6(GLI3):c.1356+10_1356+11delinsAC |
indel |
Greig cephalopolysyndactyly syndrome [RCV001956058] |
Chr7:42025253..42025254 [GRCh38]
Chr7:42064852..42064853 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NC_000007.13:g.(?_39726267)_(42262852_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003120786] |
Chr7:39726267..42262852 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3899C>T (p.Ala1300Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001935901]|Inborn genetic diseases [RCV003264261] |
Chr7:41965174 [GRCh38]
Chr7:42004772 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2432-1G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001935371] |
Chr7:41966642 [GRCh38]
Chr7:42006240 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4369G>A (p.Ala1457Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002015906] |
Chr7:41964704 [GRCh38]
Chr7:42004302 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NC_000007.13:g.(?_42063047)_(42066031_?)dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV002033319] |
Chr7:42063047..42066031 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2936_2953dup (p.Ala984_His985insArgSerAspGlyGlyAla) |
duplication |
not provided [RCV002034835] |
Chr7:41966119..41966120 [GRCh38]
Chr7:42005717..42005718 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1380T>C (p.Leu460=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002010584] |
Chr7:42023585 [GRCh38]
Chr7:42063184 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001906603]|Greig cephalopolysyndactyly syndrome [RCV002478339]|not provided [RCV002253991] |
Chr7:41964781 [GRCh38]
Chr7:42004379 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3864G>A (p.Gly1288=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001997867]|Greig cephalopolysyndactyly syndrome [RCV002497899] |
Chr7:41965209 [GRCh38]
Chr7:42004807 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3956dup (p.Gln1320fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV001918776] |
Chr7:41965116..41965117 [GRCh38]
Chr7:42004714..42004715 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2975T>C (p.Leu992Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002014013] |
Chr7:41966098 [GRCh38]
Chr7:42005696 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile) |
single nucleotide variant |
GLI3-related condition [RCV003923387]|Greig cephalopolysyndactyly syndrome [RCV001979971]|Greig cephalopolysyndactyly syndrome [RCV002479559] |
Chr7:41964646 [GRCh38]
Chr7:42004244 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2520G>A (p.Met840Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001878035]|Greig cephalopolysyndactyly syndrome [RCV002490131] |
Chr7:41966553 [GRCh38]
Chr7:42006151 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2944G>A (p.Gly982Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001886129] |
Chr7:41966129 [GRCh38]
Chr7:42005727 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001924251] |
Chr7:41965311 [GRCh38]
Chr7:42004909 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1497+5G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001977713]|not provided [RCV003313255] |
Chr7:42023463 [GRCh38]
Chr7:42063062 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.973C>T (p.Arg325Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002009917] |
Chr7:42040093 [GRCh38]
Chr7:42079692 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV001919722]|Inborn genetic diseases [RCV003247115] |
Chr7:42026282 [GRCh38]
Chr7:42065881 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002166102] |
Chr7:41967719 [GRCh38]
Chr7:42007317 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3486G>A (p.Trp1162Ter) |
single nucleotide variant |
not provided [RCV002224483] |
Chr7:41965587 [GRCh38]
Chr7:42005185 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4682A>G (p.Asp1561Gly) |
single nucleotide variant |
not provided [RCV002226007] |
Chr7:41964391 [GRCh38]
Chr7:42003989 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1242+16C>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002145886] |
Chr7:42026183 [GRCh38]
Chr7:42065782 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.474-8G>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002130022] |
Chr7:42048704 [GRCh38]
Chr7:42088303 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4676T>C (p.Ile1559Thr) |
single nucleotide variant |
not provided [RCV002226006] |
Chr7:41964397 [GRCh38]
Chr7:42003995 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1320T>C (p.Asp440=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002104792] |
Chr7:42025300 [GRCh38]
Chr7:42064899 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1909C>T (p.His637Tyr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002090949] |
Chr7:41972531 [GRCh38]
Chr7:42012130 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2361T>C (p.Asn787=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002106696] |
Chr7:41967666 [GRCh38]
Chr7:42007264 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3549C>G (p.Pro1183=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002196353] |
Chr7:41965524 [GRCh38]
Chr7:42005122 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1813-15T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002094790] |
Chr7:41972642 [GRCh38]
Chr7:42012241 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.954C>T (p.Val318=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002105729] |
Chr7:42040112 [GRCh38]
Chr7:42079711 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.246G>A (p.Arg82=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002108082]|Greig cephalopolysyndactyly syndrome [RCV002494242] |
Chr7:42148347 [GRCh38]
Chr7:42187946 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002115913]|not provided [RCV003134387] |
Chr7:41964893 [GRCh38]
Chr7:42004491 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.434G>A (p.Arg145His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002106153]|Inborn genetic diseases [RCV003053421] |
Chr7:42076791 [GRCh38]
Chr7:42116390 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.367+20G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002115582]|Greig cephalopolysyndactyly syndrome [RCV002486888] |
Chr7:42148206 [GRCh38]
Chr7:42187805 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2409G>A (p.Ala803=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003774637]|not provided [RCV002214429] |
Chr7:41967618 [GRCh38]
Chr7:42007216 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1497C>G (p.His499Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002116108] |
Chr7:42023468 [GRCh38]
Chr7:42063067 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1325A>G (p.Asp442Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002216579] |
Chr7:42025295 [GRCh38]
Chr7:42064894 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4346del (p.Gly1449fs) |
deletion |
Polydactyly, postaxial, type A1 [RCV002226960] |
Chr7:41964727 [GRCh38]
Chr7:42004325 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.1357-12C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002216701] |
Chr7:42023620 [GRCh38]
Chr7:42063219 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3900G>A (p.Ala1300=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002179545] |
Chr7:41965173 [GRCh38]
Chr7:42004771 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1357-10C>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002082038] |
Chr7:42023618 [GRCh38]
Chr7:42063217 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.636G>T (p.Ser212=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002183977] |
Chr7:42048534 [GRCh38]
Chr7:42088133 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1366G>T (p.Glu456Ter) |
single nucleotide variant |
Pallister-Hall syndrome [RCV002251098] |
Chr7:42023599 [GRCh38]
Chr7:42063198 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2685C>T (p.Tyr895=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002154849] |
Chr7:41966388 [GRCh38]
Chr7:42005986 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1740C>T (p.His580=) |
single nucleotide variant |
GLI3-related condition [RCV003896003]|Greig cephalopolysyndactyly syndrome [RCV002158631]|Greig cephalopolysyndactyly syndrome [RCV002500341] |
Chr7:41977630 [GRCh38]
Chr7:42017229 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1506T>C (p.Asn502=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002122478] |
Chr7:41978740 [GRCh38]
Chr7:42018339 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4625G>A (p.Arg1542Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002216984] |
Chr7:41964448 [GRCh38]
Chr7:42004046 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2432-16C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002118022] |
Chr7:41966657 [GRCh38]
Chr7:42006255 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.250T>C (p.Ser84Pro) |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV002226886] |
Chr7:42148343 [GRCh38]
Chr7:42187942 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.613C>T (p.Arg205Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002199035]|Inborn genetic diseases [RCV003161677] |
Chr7:42048557 [GRCh38]
Chr7:42088156 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2772C>G (p.Ala924=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003116962] |
Chr7:41966301 [GRCh38]
Chr7:42005899 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1317C>T (p.Pro439=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003117308] |
Chr7:42025303 [GRCh38]
Chr7:42064902 [GRCh37]
Chr7:7p14.1 |
benign |
| NC_000007.13:g.(?_42088070)_(42088315_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003122099] |
Chr7:42088070..42088315 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NC_000007.13:g.(?_42262709)_(42262852_?)dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV003122100] |
Chr7:42262709..42262852 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NC_000007.13:g.(?_42116331)_(42116476_?)dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV003122101] |
Chr7:42116331..42116476 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NC_000007.13:g.(?_42017137)_(42079858_?)dup |
duplication |
Greig cephalopolysyndactyly syndrome [RCV003122102] |
Chr7:42017137..42079858 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NC_000007.13:g.(?_42000470)_(42005117_?)del |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003122103] |
Chr7:42000470..42005117 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.438C>G (p.Tyr146Ter) |
single nucleotide variant |
Polysyndactyly 4 [RCV002272931] |
Chr7:42076787 [GRCh38]
Chr7:42116386 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.687T>A (p.His229Gln) |
single nucleotide variant |
not provided [RCV003131029] |
Chr7:42045523 [GRCh38]
Chr7:42085122 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2381A>G (p.Asn794Ser) |
single nucleotide variant |
not provided [RCV003131030] |
Chr7:41967646 [GRCh38]
Chr7:42007244 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1097_1099del (p.Arg366del) |
deletion |
not provided [RCV003131031] |
Chr7:42026342..42026344 [GRCh38]
Chr7:42065941..42065943 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4411G>A (p.Gly1471Arg) |
single nucleotide variant |
not provided [RCV003131032] |
Chr7:41964662 [GRCh38]
Chr7:42004260 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.473+1G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002227906] |
Chr7:42076751 [GRCh38]
Chr7:42116350 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1693del (p.Thr565fs) |
deletion |
Polydactyly, postaxial, type A1 [RCV002251138] |
Chr7:41977677 [GRCh38]
Chr7:42017276 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4283dup (p.Pro1429fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV002255230] |
Chr7:41964789..41964790 [GRCh38]
Chr7:42004387..42004388 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4019C>G (p.Pro1340Arg) |
single nucleotide variant |
not provided [RCV003129213] |
Chr7:41965054 [GRCh38]
Chr7:42004652 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2624G>T (p.Arg875Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003255608] |
Chr7:41966449 [GRCh38]
Chr7:42006047 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1983G>C (p.Gln661His) |
single nucleotide variant |
not provided [RCV002260858] |
Chr7:41972457 [GRCh38]
Chr7:42012056 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.800A>C (p.His267Pro) |
single nucleotide variant |
not provided [RCV002265277] |
Chr7:42045410 [GRCh38]
Chr7:42085009 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.421C>T (p.His141Tyr) |
single nucleotide variant |
not provided [RCV002276166] |
Chr7:42076804 [GRCh38]
Chr7:42116403 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.634T>A (p.Ser212Thr) |
single nucleotide variant |
not provided [RCV002293902] |
Chr7:42048536 [GRCh38]
Chr7:42088135 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2447A>C (p.Asn816Thr) |
single nucleotide variant |
not provided [RCV002273650] |
Chr7:41966626 [GRCh38]
Chr7:42006224 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3540_3550del (p.Pro1181fs) |
deletion |
not provided [RCV002276165] |
Chr7:41965523..41965533 [GRCh38]
Chr7:42005121..42005131 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2632del (p.Glu878fs) |
deletion |
Pallister-Hall syndrome [RCV002286458] |
Chr7:41966441 [GRCh38]
Chr7:42006039 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2134T>C (p.Ser712Pro) |
single nucleotide variant |
not provided [RCV002267233] |
Chr7:41967893 [GRCh38]
Chr7:42007491 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter) |
single nucleotide variant |
Polysyndactyly 4 [RCV002264892] |
Chr7:41977697 [GRCh38]
Chr7:42017296 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3727G>C (p.Ala1243Pro) |
single nucleotide variant |
not provided [RCV002265087] |
Chr7:41965346 [GRCh38]
Chr7:42004944 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 |
copy number loss |
See cases [RCV002287832] |
Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3 |
uncertain significance |
| NM_000168.6(GLI3):c.1030C>G (p.Pro344Ala) |
single nucleotide variant |
not provided [RCV002274748] |
Chr7:42026411 [GRCh38]
Chr7:42066010 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4642C>T (p.Pro1548Ser) |
single nucleotide variant |
Pallister-Hall syndrome [RCV002289330] |
Chr7:41964431 [GRCh38]
Chr7:42004029 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3586G>C (p.Gly1196Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002266796] |
Chr7:41965487 [GRCh38]
Chr7:42005085 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2137T>C (p.Cys713Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002291083] |
Chr7:41967890 [GRCh38]
Chr7:42007488 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2867G>A (p.Arg956His) |
single nucleotide variant |
not provided [RCV003131028] |
Chr7:41966206 [GRCh38]
Chr7:42005804 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4236_4237del (p.Gln1414fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003226001]|not provided [RCV003129407] |
Chr7:41964836..41964837 [GRCh38]
Chr7:42004434..42004435 [GRCh37]
Chr7:7p14.1 |
pathogenic|uncertain significance |
| NM_000168.6(GLI3):c.286C>A (p.His96Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003286531] |
Chr7:42148307 [GRCh38]
Chr7:42187906 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2163C>T (p.Ser721=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003778684]|not provided [RCV003129017] |
Chr7:41967864 [GRCh38]
Chr7:42007462 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.4108A>G (p.Met1370Val) |
single nucleotide variant |
not provided [RCV002473961] |
Chr7:41964965 [GRCh38]
Chr7:42004563 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3601C>T (p.Pro1201Ser) |
single nucleotide variant |
not provided [RCV002306229] |
Chr7:41965472 [GRCh38]
Chr7:42005070 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2985C>A (p.His995Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002305412] |
Chr7:41966088 [GRCh38]
Chr7:42005686 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1596G>A (p.Met532Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002300196] |
Chr7:41978650 [GRCh38]
Chr7:42018249 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.158A>G (p.Glu53Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002297948] |
Chr7:42148435 [GRCh38]
Chr7:42188034 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.2390T>C (p.Leu797Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002299562] |
Chr7:41967637 [GRCh38]
Chr7:42007235 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1470G>C (p.Glu490Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002298152] |
Chr7:42023495 [GRCh38]
Chr7:42063094 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003775010]|not provided [RCV002306142] |
Chr7:41966414 [GRCh38]
Chr7:42006012 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3946G>C (p.Asp1316His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002299302] |
Chr7:41965127 [GRCh38]
Chr7:42004725 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3917G>A (p.Gly1306Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002298175] |
Chr7:41965156 [GRCh38]
Chr7:42004754 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2784C>T (p.Arg928=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002904610] |
Chr7:41966289 [GRCh38]
Chr7:42005887 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.522T>C (p.Ile174=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002839087] |
Chr7:42048648 [GRCh38]
Chr7:42088247 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1332C>T (p.Pro444=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002972420] |
Chr7:42025288 [GRCh38]
Chr7:42064887 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4016G>A (p.Arg1339His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002971122] |
Chr7:41965057 [GRCh38]
Chr7:42004655 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1421C>T (p.Pro474Leu) |
single nucleotide variant |
not provided [RCV002512333] |
Chr7:42023544 [GRCh38]
Chr7:42063143 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3286G>A (p.Val1096Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002967680] |
Chr7:41965787 [GRCh38]
Chr7:42005385 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1880A>G (p.His627Arg) |
single nucleotide variant |
not provided [RCV002512332] |
Chr7:41972560 [GRCh38]
Chr7:42012159 [GRCh37]
Chr7:7p14.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000168.6(GLI3):c.1973G>T (p.Ser658Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002615816] |
Chr7:41972467 [GRCh38]
Chr7:42012066 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3965A>C (p.Tyr1322Ser) |
single nucleotide variant |
not provided [RCV002461739] |
Chr7:41965108 [GRCh38]
Chr7:42004706 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2395C>A (p.Pro799Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003076953] |
Chr7:41967632 [GRCh38]
Chr7:42007230 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2328G>A (p.Glu776=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002908979] |
Chr7:41967699 [GRCh38]
Chr7:42007297 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1204C>G (p.Pro402Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003076768] |
Chr7:42026237 [GRCh38]
Chr7:42065836 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3526A>G (p.Lys1176Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002728945] |
Chr7:41965547 [GRCh38]
Chr7:42005145 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2329C>T (p.His777Tyr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002922114]|Inborn genetic diseases [RCV002904655] |
Chr7:41967698 [GRCh38]
Chr7:42007296 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1029-6G>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003074950] |
Chr7:42026418 [GRCh38]
Chr7:42066017 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1058C>T (p.Ala353Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002876424]|Inborn genetic diseases [RCV002863666] |
Chr7:42026383 [GRCh38]
Chr7:42065982 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.836dup (p.Ser280fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV002907614] |
Chr7:42040229..42040230 [GRCh38]
Chr7:42079828..42079829 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.368-3C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003075349] |
Chr7:42076860 [GRCh38]
Chr7:42116459 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4144G>C (p.Gly1382Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002904932] |
Chr7:41964929 [GRCh38]
Chr7:42004527 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1778G>A (p.Arg593His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003103131]|not provided [RCV002462505] |
Chr7:41977592 [GRCh38]
Chr7:42017191 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4253T>C (p.Val1418Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002748718] |
Chr7:41964820 [GRCh38]
Chr7:42004418 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1844C>T (p.Thr615Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002902011] |
Chr7:41972596 [GRCh38]
Chr7:42012195 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.293C>T (p.Ala98Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002574728]|not provided [RCV002510144] |
Chr7:42148300 [GRCh38]
Chr7:42187899 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.3210C>A (p.Thr1070=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002907913] |
Chr7:41965863 [GRCh38]
Chr7:42005461 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4064A>G (p.Asn1355Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002692687] |
Chr7:41965009 [GRCh38]
Chr7:42004607 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3349C>T (p.Pro1117Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002663150] |
Chr7:41965724 [GRCh38]
Chr7:42005322 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1553T>A (p.Leu518Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003081670] |
Chr7:41978693 [GRCh38]
Chr7:42018292 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1040G>A (p.Ser347Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002870715] |
Chr7:42026401 [GRCh38]
Chr7:42066000 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1234T>C (p.Ser412Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002783329] |
Chr7:42026207 [GRCh38]
Chr7:42065806 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1835C>T (p.Pro612Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003036862] |
Chr7:41972605 [GRCh38]
Chr7:42012204 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.898_900dup (p.Ser300_Asp301insSer) |
duplication |
not provided [RCV002509915] |
Chr7:42040165..42040166 [GRCh38]
Chr7:42079764..42079765 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1194G>A (p.Thr398=) |
single nucleotide variant |
GLI3-related condition [RCV003963546]|Greig cephalopolysyndactyly syndrome [RCV002979505] |
Chr7:42026247 [GRCh38]
Chr7:42065846 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.90C>T (p.Ser30=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002885519] |
Chr7:42223164 [GRCh38]
Chr7:42262763 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2382C>A (p.Asn794Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002885546] |
Chr7:41967645 [GRCh38]
Chr7:42007243 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1289T>C (p.Met430Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002886643] |
Chr7:42025331 [GRCh38]
Chr7:42064930 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2803G>A (p.Ala935Thr) |
single nucleotide variant |
GLI3-related condition [RCV003946285]|Greig cephalopolysyndactyly syndrome [RCV002591562] |
Chr7:41966270 [GRCh38]
Chr7:42005868 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3514C>T (p.Leu1172=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002796629] |
Chr7:41965559 [GRCh38]
Chr7:42005157 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002909207] |
Chr7:41965504 [GRCh38]
Chr7:42005102 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2248A>G (p.Met750Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002950098] |
Chr7:41967779 [GRCh38]
Chr7:42007377 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2438A>C (p.Gln813Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002761861] |
Chr7:41966635 [GRCh38]
Chr7:42006233 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1356+17G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002622688] |
Chr7:42025247 [GRCh38]
Chr7:42064846 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.679+9A>G |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003018283] |
Chr7:42048482 [GRCh38]
Chr7:42088081 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.235A>T (p.Ser79Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002885708] |
Chr7:42148358 [GRCh38]
Chr7:42187957 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002889144] |
Chr7:41965926 [GRCh38]
Chr7:42005524 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2146del (p.Gln716fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002871086] |
Chr7:41967881 [GRCh38]
Chr7:42007479 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4037G>A (p.Gly1346Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003066724]|Inborn genetic diseases [RCV003052867] |
Chr7:41965036 [GRCh38]
Chr7:42004634 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.13T>C (p.Ser5Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002781171] |
Chr7:42223241 [GRCh38]
Chr7:42262840 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.956C>T (p.Thr319Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002976113] |
Chr7:42040110 [GRCh38]
Chr7:42079709 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.368-1G>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002820371] |
Chr7:42076858 [GRCh38]
Chr7:42116457 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2991G>T (p.Ala997=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003019364] |
Chr7:41966082 [GRCh38]
Chr7:42005680 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.245_299del (p.Arg82fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002847628] |
Chr7:42148294..42148348 [GRCh38]
Chr7:42187893..42187947 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys) |
single nucleotide variant |
GLI3-related condition [RCV003418688]|Greig cephalopolysyndactyly syndrome [RCV002976094] |
Chr7:41966572 [GRCh38]
Chr7:42006170 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.4559C>T (p.Ser1520Leu) |
single nucleotide variant |
GLI3-related condition [RCV003404156]|Inborn genetic diseases [RCV002758418] |
Chr7:41964514 [GRCh38]
Chr7:42004112 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002999362] |
Chr7:42023494 [GRCh38]
Chr7:42063093 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3324C>T (p.Tyr1108=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002638804] |
Chr7:41965749 [GRCh38]
Chr7:42005347 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4105G>A (p.Gly1369Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003077183] |
Chr7:41964968 [GRCh38]
Chr7:42004566 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu) |
single nucleotide variant |
GLI3-related condition [RCV003963624]|Greig cephalopolysyndactyly syndrome [RCV003078809] |
Chr7:41972437 [GRCh38]
Chr7:42012036 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3000C>T (p.His1000=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002705939] |
Chr7:41966073 [GRCh38]
Chr7:42005671 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2962G>A (p.Gly988Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003001909] |
Chr7:41966111 [GRCh38]
Chr7:42005709 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.367+19C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002985653] |
Chr7:42148207 [GRCh38]
Chr7:42187806 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3946G>A (p.Asp1316Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002932784] |
Chr7:41965127 [GRCh38]
Chr7:42004725 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4052C>A (p.Thr1351Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002712849] |
Chr7:41965021 [GRCh38]
Chr7:42004619 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2881G>C (p.Gly961Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002826241] |
Chr7:41966192 [GRCh38]
Chr7:42005790 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4525A>G (p.Ile1509Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002854229] |
Chr7:41964548 [GRCh38]
Chr7:42004146 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.712T>C (p.Tyr238His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003042184] |
Chr7:42045498 [GRCh38]
Chr7:42085097 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1128C>G (p.His376Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002624429] |
Chr7:42026313 [GRCh38]
Chr7:42065912 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1254G>A (p.Thr418=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003059064] |
Chr7:42025366 [GRCh38]
Chr7:42064965 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4710G>A (p.Ala1570=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003059072] |
Chr7:41964363 [GRCh38]
Chr7:42003961 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2486G>T (p.Gly829Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003059074] |
Chr7:41966587 [GRCh38]
Chr7:42006185 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4565C>A (p.Ala1522Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002787744] |
Chr7:41964508 [GRCh38]
Chr7:42004106 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3102G>T (p.Ala1034=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002801418] |
Chr7:41965971 [GRCh38]
Chr7:42005569 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.991A>G (p.Ser331Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002983481] |
Chr7:42040075 [GRCh38]
Chr7:42079674 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3379G>C (p.Gly1127Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002875363] |
Chr7:41965694 [GRCh38]
Chr7:42005292 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.925A>G (p.Met309Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002642792] |
Chr7:42040141 [GRCh38]
Chr7:42079740 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3035G>T (p.Gly1012Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002743652] |
Chr7:41966038 [GRCh38]
Chr7:42005636 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1530G>A (p.Lys510=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002711279] |
Chr7:41978716 [GRCh38]
Chr7:42018315 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2853G>C (p.Met951Ile) |
single nucleotide variant |
GLI3-related condition [RCV003973738]|Inborn genetic diseases [RCV002892912] |
Chr7:41966220 [GRCh38]
Chr7:42005818 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3647_3665del (p.Leu1216fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002871660] |
Chr7:41965408..41965426 [GRCh38]
Chr7:42005006..42005024 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4495C>G (p.Leu1499Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003022339] |
Chr7:41964578 [GRCh38]
Chr7:42004176 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4392C>T (p.Asp1464=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003083581] |
Chr7:41964681 [GRCh38]
Chr7:42004279 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.533dup (p.His179fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV002872385] |
Chr7:42048636..42048637 [GRCh38]
Chr7:42088235..42088236 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2678A>G (p.Asp893Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002802477] |
Chr7:41966395 [GRCh38]
Chr7:42005993 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1968C>T (p.Ser656=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003085280] |
Chr7:41972472 [GRCh38]
Chr7:42012071 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4610G>C (p.Arg1537Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002625215] |
Chr7:41964463 [GRCh38]
Chr7:42004061 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1958C>G (p.Pro653Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002699602] |
Chr7:41972482 [GRCh38]
Chr7:42012081 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2445C>A (p.Asn815Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002805459] |
Chr7:41966628 [GRCh38]
Chr7:42006226 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2434A>T (p.Thr812Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003082478] |
Chr7:41966639 [GRCh38]
Chr7:42006237 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4164C>T (p.Ser1388=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002720865] |
Chr7:41964909 [GRCh38]
Chr7:42004507 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1357-7_1357-5del |
microsatellite |
Greig cephalopolysyndactyly syndrome [RCV003049258] |
Chr7:42023613..42023615 [GRCh38]
Chr7:42063212..42063214 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2550C>T (p.Ser850=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003060870] |
Chr7:41966523 [GRCh38]
Chr7:42006121 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1648delT (p.Phe550fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002877275] |
Chr7:41977720 [GRCh38]
Chr7:42017319 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4020C>G (p.Pro1340=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003065421] |
Chr7:41965053 [GRCh38]
Chr7:42004651 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4525A>C (p.Ile1509Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002878944] |
Chr7:41964548 [GRCh38]
Chr7:42004146 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4234A>T (p.Thr1412Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003090387] |
Chr7:41964839 [GRCh38]
Chr7:42004437 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4477A>G (p.Ser1493Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003031298] |
Chr7:41964596 [GRCh38]
Chr7:42004194 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002938784] |
Chr7:41964719 [GRCh38]
Chr7:42004317 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003065649] |
Chr7:41972440 [GRCh38]
Chr7:42012039 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3765G>A (p.Gly1255=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002895322] |
Chr7:41965308 [GRCh38]
Chr7:42004906 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.548del (p.Thr183fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002898865] |
Chr7:42048622 [GRCh38]
Chr7:42088221 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.135T>A (p.Ser45Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002628947] |
Chr7:42148458 [GRCh38]
Chr7:42188057 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.368-2A>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003008916] |
Chr7:42076859 [GRCh38]
Chr7:42116458 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.3109A>G (p.Thr1037Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002898667] |
Chr7:41965964 [GRCh38]
Chr7:42005562 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu) |
single nucleotide variant |
GLI3-related condition [RCV003418601]|Greig cephalopolysyndactyly syndrome [RCV002746393] |
Chr7:41964681 [GRCh38]
Chr7:42004279 [GRCh37]
Chr7:7p14.1 |
benign|uncertain significance |
| NM_000168.6(GLI3):c.1356+16C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003086814] |
Chr7:42025248 [GRCh38]
Chr7:42064847 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2408C>T (p.Ala803Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003011193] |
Chr7:41967619 [GRCh38]
Chr7:42007217 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1091T>G (p.Leu364Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002747537] |
Chr7:42026350 [GRCh38]
Chr7:42065949 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4186G>C (p.Ala1396Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002833102] |
Chr7:41964887 [GRCh38]
Chr7:42004485 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2416C>T (p.Pro806Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002578671] |
Chr7:41967611 [GRCh38]
Chr7:42007209 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3611C>T (p.Pro1204Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002629429] |
Chr7:41965462 [GRCh38]
Chr7:42005060 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3859C>G (p.Gln1287Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002895371] |
Chr7:41965214 [GRCh38]
Chr7:42004812 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.39_41del (p.Lys15del) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV002938785] |
Chr7:42223213..42223215 [GRCh38]
Chr7:42262812..42262814 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3254A>G (p.Asn1085Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003778594]|Inborn genetic diseases [RCV002719697] |
Chr7:41965819 [GRCh38]
Chr7:42005417 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4712A>G (p.Glu1571Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002714904] |
Chr7:41964361 [GRCh38]
Chr7:42003959 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3517TCC[2] (p.Ser1175del) |
microsatellite |
Greig cephalopolysyndactyly syndrome [RCV003091325] |
Chr7:41965548..41965550 [GRCh38]
Chr7:42005146..42005148 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3097C>A (p.Pro1033Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002720998] |
Chr7:41965976 [GRCh38]
Chr7:42005574 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.474-3C>T |
single nucleotide variant |
GLI3-related condition [RCV003898566]|Greig cephalopolysyndactyly syndrome [RCV002899680] |
Chr7:42048699 [GRCh38]
Chr7:42088298 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.802A>G (p.Met268Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002812152] |
Chr7:42045408 [GRCh38]
Chr7:42085007 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4362C>T (p.Asp1454=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002721076] |
Chr7:41964711 [GRCh38]
Chr7:42004309 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4567C>G (p.Leu1523Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002628119] |
Chr7:41964506 [GRCh38]
Chr7:42004104 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3893C>A (p.Pro1298Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002702978] |
Chr7:41965180 [GRCh38]
Chr7:42004778 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.827-15T>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002647633] |
Chr7:42040254 [GRCh38]
Chr7:42079853 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4043_4045del (p.Ile1348del) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003064129] |
Chr7:41965028..41965030 [GRCh38]
Chr7:42004626..42004628 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1539C>T (p.Phe513=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002576499] |
Chr7:41978707 [GRCh38]
Chr7:42018306 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3132C>G (p.Leu1044=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003050154] |
Chr7:41965941 [GRCh38]
Chr7:42005539 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1954C>A (p.Pro652Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002603941] |
Chr7:41972486 [GRCh38]
Chr7:42012085 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2083G>T (p.Val695Phe) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002633469] |
Chr7:41972357 [GRCh38]
Chr7:42011956 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4487G>A (p.Ser1496Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002677195] |
Chr7:41964586 [GRCh38]
Chr7:42004184 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.367+1G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002942550] |
Chr7:42148225 [GRCh38]
Chr7:42187824 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2961C>T (p.Tyr987=) |
single nucleotide variant |
GLI3-related condition [RCV003918900]|Greig cephalopolysyndactyly syndrome [RCV003093172] |
Chr7:41966112 [GRCh38]
Chr7:42005710 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3539G>C (p.Gly1180Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003069246] |
Chr7:41965534 [GRCh38]
Chr7:42005132 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4247G>T (p.Cys1416Phe) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003068354] |
Chr7:41964826 [GRCh38]
Chr7:42004424 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2862G>T (p.Lys954Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003071350]|Inborn genetic diseases [RCV003171048] |
Chr7:41966211 [GRCh38]
Chr7:42005809 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.1647+16G>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002604304] |
Chr7:41978583 [GRCh38]
Chr7:42018182 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4220G>A (p.Gly1407Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002584391] |
Chr7:41964853 [GRCh38]
Chr7:42004451 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4234A>G (p.Thr1412Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002610941] |
Chr7:41964839 [GRCh38]
Chr7:42004437 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3712G>A (p.Gly1238Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002613149] |
Chr7:41965361 [GRCh38]
Chr7:42004959 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3003C>T (p.Gly1001=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002585389] |
Chr7:41966070 [GRCh38]
Chr7:42005668 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3092A>G (p.Asn1031Ser) |
single nucleotide variant |
GLI3-related condition [RCV003410132]|Greig cephalopolysyndactyly syndrome [RCV002634027] |
Chr7:41965981 [GRCh38]
Chr7:42005579 [GRCh37]
Chr7:7p14.1 |
likely benign|uncertain significance |
| NM_000168.6(GLI3):c.614G>A (p.Arg205His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002611742] |
Chr7:42048556 [GRCh38]
Chr7:42088155 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1618C>G (p.His540Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV002815116] |
Chr7:41978628 [GRCh38]
Chr7:42018227 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3110C>G (p.Thr1037Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002722809] |
Chr7:41965963 [GRCh38]
Chr7:42005561 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1493T>C (p.Val498Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003213243] |
Chr7:42023472 [GRCh38]
Chr7:42063071 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3659G>A (p.Ser1220Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003194611] |
Chr7:41965414 [GRCh38]
Chr7:42005012 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4332T>A (p.Tyr1444Ter) |
single nucleotide variant |
Postaxial polydactyly type B [RCV003228739] |
Chr7:41964741 [GRCh38]
Chr7:42004339 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2587C>T (p.Arg863Cys) |
single nucleotide variant |
not provided [RCV003228419] |
Chr7:41966486 [GRCh38]
Chr7:42006084 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4484A>G (p.Asp1495Gly) |
single nucleotide variant |
not provided [RCV003227333] |
Chr7:41964589 [GRCh38]
Chr7:42004187 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2875C>G (p.Leu959Val) |
single nucleotide variant |
not provided [RCV003135384] |
Chr7:41966198 [GRCh38]
Chr7:42005796 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2845G>A (p.Glu949Lys) |
single nucleotide variant |
not provided [RCV003135385] |
Chr7:41966228 [GRCh38]
Chr7:42005826 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.426T>A (p.His142Gln) |
single nucleotide variant |
not provided [RCV003135386] |
Chr7:42076799 [GRCh38]
Chr7:42116398 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.491G>A (p.Ser164Asn) |
single nucleotide variant |
not provided [RCV003135387] |
Chr7:42048679 [GRCh38]
Chr7:42088278 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
not provided [RCV003135388] |
Chr7:42048538 [GRCh38]
Chr7:42088137 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1848G>C (p.Lys616Asn) |
single nucleotide variant |
not provided [RCV003135389] |
Chr7:41972592 [GRCh38]
Chr7:42012191 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3397G>A (p.Gly1133Arg) |
single nucleotide variant |
not provided [RCV003135390] |
Chr7:41965676 [GRCh38]
Chr7:42005274 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3386T>C (p.Phe1129Ser) |
single nucleotide variant |
not provided [RCV003135391] |
Chr7:41965687 [GRCh38]
Chr7:42005285 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.151C>T (p.His51Tyr) |
single nucleotide variant |
not provided [RCV003229419] |
Chr7:42148442 [GRCh38]
Chr7:42188041 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.148T>C (p.Tyr50His) |
single nucleotide variant |
not provided [RCV003228491] |
Chr7:42148445 [GRCh38]
Chr7:42188044 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1577C>T (p.Pro526Leu) |
single nucleotide variant |
not provided [RCV003318997] |
Chr7:41978669 [GRCh38]
Chr7:42018268 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3140A>C (p.Gln1047Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003285279] |
Chr7:41965933 [GRCh38]
Chr7:42005531 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.815A>G (p.His272Arg) |
single nucleotide variant |
not provided [RCV003321352] |
Chr7:42045395 [GRCh38]
Chr7:42084994 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1813-11G>A |
single nucleotide variant |
not provided [RCV003325694] |
Chr7:41972638 [GRCh38]
Chr7:42012237 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2892C>T (p.Leu964=) |
single nucleotide variant |
not provided [RCV003423554] |
Chr7:41966181 [GRCh38]
Chr7:42005779 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1846A>G (p.Lys616Glu) |
single nucleotide variant |
Polydactyly, postaxial, type A1 [RCV003338095] |
Chr7:41972594 [GRCh38]
Chr7:42012193 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4046G>A (p.Ser1349Asn) |
single nucleotide variant |
not provided [RCV003332533] |
Chr7:41965027 [GRCh38]
Chr7:42004625 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3224del (p.Leu1075fs) |
deletion |
GLI3-Related Disorders [RCV003335857] |
Chr7:41965849 [GRCh38]
Chr7:42005447 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3137T>C (p.Leu1046Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003369732] |
Chr7:41965936 [GRCh38]
Chr7:42005534 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1777C>A (p.Arg593Ser) |
single nucleotide variant |
GLI3-related condition [RCV003418844] |
Chr7:41977593 [GRCh38]
Chr7:42017192 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2692A>G (p.Ile898Val) |
single nucleotide variant |
GLI3-related condition [RCV003394399] |
Chr7:41966381 [GRCh38]
Chr7:42005979 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4168G>C (p.Gly1390Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003361921] |
Chr7:41964905 [GRCh38]
Chr7:42004503 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003455900] |
Chr7:41967620 [GRCh38]
Chr7:42007218 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1659C>T (p.Cys553=) |
single nucleotide variant |
not specified [RCV003479656] |
Chr7:41977711 [GRCh38]
Chr7:42017310 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1946G>A (p.Arg649Gln) |
single nucleotide variant |
not provided [RCV003487873] |
Chr7:41972494 [GRCh38]
Chr7:42012093 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2993C>G (p.Pro998Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003791510] |
Chr7:41966080 [GRCh38]
Chr7:42005678 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2610C>A (p.Cys870Ter) |
single nucleotide variant |
GLI3-related condition [RCV003397414] |
Chr7:41966463 [GRCh38]
Chr7:42006061 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.3378del (p.Gly1127fs) |
deletion |
not provided [RCV003442723] |
Chr7:41965695 [GRCh38]
Chr7:42005293 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.-116_-110del |
deletion |
not provided [RCV003423555] |
Chr7:42237038..42237044 [GRCh38]
Chr7:42276637..42276643 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3706G>A (p.Gly1236Arg) |
single nucleotide variant |
GLI3-related condition [RCV003400048] |
Chr7:41965367 [GRCh38]
Chr7:42004965 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3892C>G (p.Pro1298Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003791853] |
Chr7:41965181 [GRCh38]
Chr7:42004779 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4621_4625dup (p.Ala1543fs) |
duplication |
GLI3-related condition [RCV003404376] |
Chr7:41964447..41964448 [GRCh38]
Chr7:42004045..42004046 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.1369G>A (p.Gly457Arg) |
single nucleotide variant |
GLI3-related condition [RCV003404652] |
Chr7:42023596 [GRCh38]
Chr7:42063195 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.669C>G (p.Ser223Arg) |
single nucleotide variant |
GLI3-related condition [RCV003399916] |
Chr7:42048501 [GRCh38]
Chr7:42088100 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3523del (p.Ser1175fs) |
deletion |
GLI3-related condition [RCV003394450] |
Chr7:41965550 [GRCh38]
Chr7:42005148 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4095A>C (p.Pro1365=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003778439]|not provided [RCV003433770] |
Chr7:41964978 [GRCh38]
Chr7:42004576 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1894C>T (p.His632Tyr) |
single nucleotide variant |
GLI3-related condition [RCV003402208] |
Chr7:41972546 [GRCh38]
Chr7:42012145 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1864A>C (p.Ser622Arg) |
single nucleotide variant |
GLI3-related condition [RCV003402380] |
Chr7:41972576 [GRCh38]
Chr7:42012175 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1937_1949dup (p.Pro652fs) |
duplication |
not provided [RCV003433773] |
Chr7:41972490..41972491 [GRCh38]
Chr7:42012089..42012090 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1318G>A (p.Asp440Asn) |
single nucleotide variant |
not provided [RCV003433774] |
Chr7:42025302 [GRCh38]
Chr7:42064901 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3751G>T (p.Ala1251Ser) |
single nucleotide variant |
GLI3-related condition [RCV003404642] |
Chr7:41965322 [GRCh38]
Chr7:42004920 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1448_1463dup (p.Arg489fs) |
duplication |
GLI3-related condition [RCV003419068] |
Chr7:42023501..42023502 [GRCh38]
Chr7:42063100..42063101 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.1570C>A (p.Gln524Lys) |
single nucleotide variant |
GLI3-related condition [RCV003394362] |
Chr7:41978676 [GRCh38]
Chr7:42018275 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3638A>G (p.Tyr1213Cys) |
single nucleotide variant |
GLI3-related condition [RCV003419034] |
Chr7:41965435 [GRCh38]
Chr7:42005033 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.371CTC[1] (p.Pro125del) |
microsatellite |
GLI3-related condition [RCV003419106] |
Chr7:42076849..42076851 [GRCh38]
Chr7:42116448..42116450 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3718A>G (p.Ser1240Gly) |
single nucleotide variant |
not provided [RCV003433771] |
Chr7:41965355 [GRCh38]
Chr7:42004953 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.837C>A (p.Phe279Leu) |
single nucleotide variant |
not provided [RCV003433775] |
Chr7:42040229 [GRCh38]
Chr7:42079828 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4168G>A (p.Gly1390Arg) |
single nucleotide variant |
GLI3-related condition [RCV003408621] |
Chr7:41964905 [GRCh38]
Chr7:42004503 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.758A>T (p.Asp253Val) |
single nucleotide variant |
GLI3-related condition [RCV003404205] |
Chr7:42045452 [GRCh38]
Chr7:42085051 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3739C>T (p.Gln1247Ter) |
single nucleotide variant |
not provided [RCV003441501] |
Chr7:41965334 [GRCh38]
Chr7:42004932 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4317C>G (p.Tyr1439Ter) |
single nucleotide variant |
GLI3-related condition [RCV003406141] |
Chr7:41964756 [GRCh38]
Chr7:42004354 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.*2859G>A |
single nucleotide variant |
not provided [RCV003423553] |
Chr7:41961471 [GRCh38]
Chr7:42001069 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2429A>G (p.Asn810Ser) |
single nucleotide variant |
not provided [RCV003433772] |
Chr7:41967598 [GRCh38]
Chr7:42007196 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2664_2676del (p.Asn888fs) |
deletion |
GLI3-related condition [RCV003400011] |
Chr7:41966397..41966409 [GRCh38]
Chr7:42005995..42006007 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2488A>G (p.Arg830Gly) |
single nucleotide variant |
GLI3-related condition [RCV003397573] |
Chr7:41966585 [GRCh38]
Chr7:42006183 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2584C>T (p.Arg862Cys) |
single nucleotide variant |
GLI3-related condition [RCV003410532] |
Chr7:41966489 [GRCh38]
Chr7:42006087 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2482C>T (p.Pro828Ser) |
single nucleotide variant |
GLI3-related condition [RCV003400220] |
Chr7:41966591 [GRCh38]
Chr7:42006189 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4409A>G (p.Gln1470Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003784846] |
Chr7:41964664 [GRCh38]
Chr7:42004262 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2610C>T (p.Cys870=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003788572] |
Chr7:41966463 [GRCh38]
Chr7:42006061 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1626C>T (p.Gly542=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003796308] |
Chr7:41978620 [GRCh38]
Chr7:42018219 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003794188] |
Chr7:41964742 [GRCh38]
Chr7:42004340 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3160G>A (p.Gly1054Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003797787] |
Chr7:41965913 [GRCh38]
Chr7:42005511 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.538C>T (p.Arg180Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003794318] |
Chr7:42048632 [GRCh38]
Chr7:42088231 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2957G>A (p.Gly986Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003783016] |
Chr7:41966116 [GRCh38]
Chr7:42005714 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4283A>C (p.Gln1428Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003784178] |
Chr7:41964790 [GRCh38]
Chr7:42004388 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.618C>T (p.Ser206=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003795838] |
Chr7:42048552 [GRCh38]
Chr7:42088151 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2965C>T (p.Arg989Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003784410] |
Chr7:41966108 [GRCh38]
Chr7:42005706 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2432-17C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003796879] |
Chr7:41966658 [GRCh38]
Chr7:42006256 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2608T>G (p.Cys870Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003793468] |
Chr7:41966465 [GRCh38]
Chr7:42006063 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1415A>G (p.Gln472Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003796206] |
Chr7:42023550 [GRCh38]
Chr7:42063149 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4605C>T (p.Ser1535=) |
single nucleotide variant |
GLI3-related condition [RCV003929354]|Greig cephalopolysyndactyly syndrome [RCV003807501] |
Chr7:41964468 [GRCh38]
Chr7:42004066 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1818A>G (p.Pro606=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003781792] |
Chr7:41972622 [GRCh38]
Chr7:42012221 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2326G>A (p.Glu776Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003785991] |
Chr7:41967701 [GRCh38]
Chr7:42007299 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3620_3621delinsAA (p.Ser1207Lys) |
indel |
Greig cephalopolysyndactyly syndrome [RCV003796691] |
Chr7:41965452..41965453 [GRCh38]
Chr7:42005050..42005051 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4189A>G (p.Met1397Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003783965] |
Chr7:41964884 [GRCh38]
Chr7:42004482 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1674G>A (p.Ser558=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003805149] |
Chr7:41977696 [GRCh38]
Chr7:42017295 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.2973C>G (p.His991Gln) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003783379] |
Chr7:41966100 [GRCh38]
Chr7:42005698 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4483G>A (p.Asp1495Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003788213] |
Chr7:41964590 [GRCh38]
Chr7:42004188 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1749C>T (p.Cys583=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003793001] |
Chr7:41977621 [GRCh38]
Chr7:42017220 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1242+7G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003793756] |
Chr7:42026192 [GRCh38]
Chr7:42065791 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3548C>T (p.Pro1183Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003791115] |
Chr7:41965525 [GRCh38]
Chr7:42005123 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3761A>G (p.Tyr1254Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003783487] |
Chr7:41965312 [GRCh38]
Chr7:42004910 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2714G>C (p.Arg905Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003796346] |
Chr7:41966359 [GRCh38]
Chr7:42005957 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4181G>T (p.Arg1394Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003793830] |
Chr7:41964892 [GRCh38]
Chr7:42004490 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4315del (p.Tyr1439fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003804681] |
Chr7:41964758 [GRCh38]
Chr7:42004356 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.680-20C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003785459] |
Chr7:42045550 [GRCh38]
Chr7:42085149 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1029-15A>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003789851] |
Chr7:42026427 [GRCh38]
Chr7:42066026 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1056C>G (p.Ser352=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003784232] |
Chr7:42026385 [GRCh38]
Chr7:42065984 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2046T>C (p.Thr682=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003792583] |
Chr7:41972394 [GRCh38]
Chr7:42011993 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2828C>T (p.Thr943Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003786280] |
Chr7:41966245 [GRCh38]
Chr7:42005843 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4020del (p.Gly1341fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003805564] |
Chr7:41965053 [GRCh38]
Chr7:42004651 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2593_2628dup (p.Ser877_Glu878insGlyIleSerProCysPheSerSerArgArgSerSer) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV003804361] |
Chr7:41966444..41966445 [GRCh38]
Chr7:42006042..42006043 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1461C>T (p.Cys487=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003796223] |
Chr7:42023504 [GRCh38]
Chr7:42063103 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4322_4326del (p.Gly1441fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003806840] |
Chr7:41964747..41964751 [GRCh38]
Chr7:42004345..42004349 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3396C>T (p.Pro1132=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003793560] |
Chr7:41965677 [GRCh38]
Chr7:42005275 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.1056C>T (p.Ser352=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003785958] |
Chr7:42026385 [GRCh38]
Chr7:42065984 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2332G>A (p.Val778Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003794002] |
Chr7:41967695 [GRCh38]
Chr7:42007293 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003796323] |
Chr7:41965768 [GRCh38]
Chr7:42005366 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3378C>T (p.Pro1126=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003789401] |
Chr7:41965695 [GRCh38]
Chr7:42005293 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3698A>G (p.Asn1233Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003781245] |
Chr7:41965375 [GRCh38]
Chr7:42004973 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3368C>T (p.Pro1123Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003786438] |
Chr7:41965705 [GRCh38]
Chr7:42005303 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4029G>C (p.Gln1343His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003792727] |
Chr7:41965044 [GRCh38]
Chr7:42004642 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1457G>C (p.Gly486Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003787007] |
Chr7:42023508 [GRCh38]
Chr7:42063107 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3971C>G (p.Ala1324Gly) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003782589] |
Chr7:41965102 [GRCh38]
Chr7:42004700 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.487T>C (p.Ser163Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003788743] |
Chr7:42048683 [GRCh38]
Chr7:42088282 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1902A>T (p.Pro634=) |
single nucleotide variant |
GLI3-related condition [RCV003949014]|Greig cephalopolysyndactyly syndrome [RCV003785709] |
Chr7:41972538 [GRCh38]
Chr7:42012137 [GRCh37]
Chr7:7p14.1 |
benign|likely benign |
| NM_000168.6(GLI3):c.3877C>T (p.Leu1293=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003782717] |
Chr7:41965196 [GRCh38]
Chr7:42004794 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2844G>A (p.Met948Ile) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003781376] |
Chr7:41966229 [GRCh38]
Chr7:42005827 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3961G>T (p.Gly1321Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003787311] |
Chr7:41965112 [GRCh38]
Chr7:42004710 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003780269] |
Chr7:41964499 [GRCh38]
Chr7:42004097 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4346G>A (p.Gly1449Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003785382] |
Chr7:41964727 [GRCh38]
Chr7:42004325 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3635G>A (p.Gly1212Asp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003796123] |
Chr7:41965438 [GRCh38]
Chr7:42005036 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1647+11A>C |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003783934] |
Chr7:41978588 [GRCh38]
Chr7:42018187 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2737G>A (p.Asp913Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003806384] |
Chr7:41966336 [GRCh38]
Chr7:42005934 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.319A>G (p.Thr107Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003795758] |
Chr7:42148274 [GRCh38]
Chr7:42187873 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3273C>T (p.Phe1091=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003786260] |
Chr7:41965800 [GRCh38]
Chr7:42005398 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2103+5G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003807110] |
Chr7:41972332 [GRCh38]
Chr7:42011931 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3828del (p.Gln1277fs) |
deletion |
not provided [RCV003489373] |
Chr7:41965245 [GRCh38]
Chr7:42004843 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.12G>T (p.Gln4His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003792184] |
Chr7:42223242 [GRCh38]
Chr7:42262841 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2300G>A (p.Arg767Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003781050] |
Chr7:41967727 [GRCh38]
Chr7:42007325 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3411C>A (p.Ser1137Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003786329] |
Chr7:41965662 [GRCh38]
Chr7:42005260 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3285C>T (p.Asp1095=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003793843] |
Chr7:41965788 [GRCh38]
Chr7:42005386 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003806113] |
Chr7:41966112 [GRCh38]
Chr7:42005710 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4193C>T (p.Pro1398Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003793598] |
Chr7:41964880 [GRCh38]
Chr7:42004478 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003790104] |
Chr7:41972491 [GRCh38]
Chr7:42012090 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.17A>C (p.His6Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003792183] |
Chr7:42223237 [GRCh38]
Chr7:42262836 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1812+7A>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003791243] |
Chr7:41977551 [GRCh38]
Chr7:42017150 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2745G>A (p.Leu915=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003787276] |
Chr7:41966328 [GRCh38]
Chr7:42005926 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3100G>A (p.Ala1034Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003791580] |
Chr7:41965973 [GRCh38]
Chr7:42005571 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.463C>T (p.Pro155Ser) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003789434] |
Chr7:42076762 [GRCh38]
Chr7:42116361 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003789318] |
Chr7:42025275 [GRCh38]
Chr7:42064874 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.331A>T (p.Met111Leu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003787611] |
Chr7:42148262 [GRCh38]
Chr7:42187861 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.433C>T (p.Arg145Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003789431] |
Chr7:42076792 [GRCh38]
Chr7:42116391 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1375A>G (p.Thr459Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003788827] |
Chr7:42023590 [GRCh38]
Chr7:42063189 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2144G>A (p.Ser715Asn) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003789569] |
Chr7:41967883 [GRCh38]
Chr7:42007481 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1327C>G (p.Leu443Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003801058] |
Chr7:42025293 [GRCh38]
Chr7:42064892 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs) |
insertion |
Greig cephalopolysyndactyly syndrome [RCV003801235] |
Chr7:41965055..41965056 [GRCh38]
Chr7:42004653..42004654 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.263A>G (p.Lys88Arg) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003798028] |
Chr7:42148330 [GRCh38]
Chr7:42187929 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003813457] |
Chr7:41978679..41978691 [GRCh38]
Chr7:42018278..42018290 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1357-10C>T |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003808748] |
Chr7:42023618 [GRCh38]
Chr7:42063217 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.532C>A (p.Pro178Thr) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003810516] |
Chr7:42048638 [GRCh38]
Chr7:42088237 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2711G>A (p.Arg904His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003801779] |
Chr7:41966362 [GRCh38]
Chr7:42005960 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1629G>A (p.Glu543=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003798779] |
Chr7:41978617 [GRCh38]
Chr7:42018216 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.3630T>C (p.Ala1210=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003801782] |
Chr7:41965443 [GRCh38]
Chr7:42005041 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003799391] |
Chr7:41964509 [GRCh38]
Chr7:42004107 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1366G>A (p.Glu456Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003810096] |
Chr7:42023599 [GRCh38]
Chr7:42063198 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4683C>G (p.Asp1561Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003817800] |
Chr7:41964390 [GRCh38]
Chr7:42003988 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1348G>T (p.Gly450Trp) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003808645] |
Chr7:42025272 [GRCh38]
Chr7:42064871 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1028+12C>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003799548] |
Chr7:42040026 [GRCh38]
Chr7:42079625 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.26C>T (p.Thr9Met) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003798892] |
Chr7:42223228 [GRCh38]
Chr7:42262827 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2719A>T (p.Ser907Cys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003801481] |
Chr7:41966354 [GRCh38]
Chr7:42005952 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3522C>T (p.Ser1174=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003809732] |
Chr7:41965551 [GRCh38]
Chr7:42005149 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3099G>A (p.Pro1033=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003798587] |
Chr7:41965974 [GRCh38]
Chr7:42005572 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2623del (p.Arg875fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003815627] |
Chr7:41966450 [GRCh38]
Chr7:42006048 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2044A>G (p.Thr682Ala) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003799728] |
Chr7:41972396 [GRCh38]
Chr7:42011995 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.826+10G>A |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003798637] |
Chr7:42045374 [GRCh38]
Chr7:42084973 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3114C>T (p.Ser1038=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003812733] |
Chr7:41965959 [GRCh38]
Chr7:42005557 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003813149] |
Chr7:41964992 [GRCh38]
Chr7:42004590 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3374G>A (p.Gly1125Glu) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003799924] |
Chr7:41965699 [GRCh38]
Chr7:42005297 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3110C>A (p.Thr1037Lys) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003815231] |
Chr7:41965963 [GRCh38]
Chr7:42005561 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1353G>T (p.Gln451His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003801289] |
Chr7:42025267 [GRCh38]
Chr7:42064866 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3818G>T (p.Gly1273Val) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003803077] |
Chr7:41965255 [GRCh38]
Chr7:42004853 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2264C>T (p.Ser755Phe) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003802961] |
Chr7:41967763 [GRCh38]
Chr7:42007361 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| GRCh37/hg19 7p14.1(chr7:42034018-42195168)x1 |
copy number loss |
not specified [RCV003986705] |
Chr7:42034018..42195168 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003803344] |
Chr7:41965631 [GRCh38]
Chr7:42005229 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1 |
copy number loss |
not specified [RCV003986704] |
Chr7:38484106..42786613 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV003985969] |
Chr7:42025291..42025292 [GRCh38]
Chr7:42064890..42064891 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs) |
duplication |
Greig cephalopolysyndactyly syndrome [RCV003986033] |
Chr7:41966192..41966193 [GRCh38]
Chr7:42005790..42005791 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| GRCh37/hg19 7p14.1(chr7:41942712-42378563)x3 |
copy number gain |
not specified [RCV003986727] |
Chr7:41942712..42378563 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2884G>C (p.Asp962His) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003803239] |
Chr7:41966189 [GRCh38]
Chr7:42005787 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.558del (p.Glu187fs) |
deletion |
Greig cephalopolysyndactyly syndrome [RCV003802161] |
Chr7:42048612 [GRCh38]
Chr7:42088211 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.2970C>T (p.Arg990=) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003802183] |
Chr7:41966103 [GRCh38]
Chr7:42005701 [GRCh37]
Chr7:7p14.1 |
benign |
| NM_000168.6(GLI3):c.936G>A (p.Thr312=) |
single nucleotide variant |
GLI3-related condition [RCV003969635] |
Chr7:42040130 [GRCh38]
Chr7:42079729 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.601A>G (p.Met201Val) |
single nucleotide variant |
GLI3-related condition [RCV003912064] |
Chr7:42048569 [GRCh38]
Chr7:42088168 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.2104-6del |
deletion |
GLI3-related condition [RCV003971918] |
Chr7:41967929 [GRCh38]
Chr7:42007527 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2774A>C (p.Gln925Pro) |
single nucleotide variant |
Greig cephalopolysyndactyly syndrome [RCV003989004] |
Chr7:41966299 [GRCh38]
Chr7:42005897 [GRCh37] |
uncertain significance |
| NM_000168.6(GLI3):c.4576A>G (p.Ser1526Gly) |
single nucleotide variant |
not provided [RCV003885205] |
Chr7:41964497 [GRCh38]
Chr7:42004095 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3885C>T (p.Phe1295=) |
single nucleotide variant |
GLI3-related condition [RCV003901844] |
Chr7:41965188 [GRCh38]
Chr7:42004786 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2994G>A (p.Pro998=) |
single nucleotide variant |
GLI3-related condition [RCV003957037] |
Chr7:41966079 [GRCh38]
Chr7:42005677 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3787G>A (p.Val1263Met) |
single nucleotide variant |
GLI3-related condition [RCV003982774] |
Chr7:41965286 [GRCh38]
Chr7:42004884 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3400C>T (p.Leu1134=) |
single nucleotide variant |
GLI3-related condition [RCV003969428] |
Chr7:41965673 [GRCh38]
Chr7:42005271 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4677C>A (p.Ile1559=) |
single nucleotide variant |
GLI3-related condition [RCV003963937] |
Chr7:41964396 [GRCh38]
Chr7:42003994 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4620G>A (p.Thr1540=) |
single nucleotide variant |
GLI3-related condition [RCV003936854] |
Chr7:41964453 [GRCh38]
Chr7:42004051 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.4731A>G (p.Ala1577=) |
single nucleotide variant |
GLI3-related condition [RCV003899099] |
Chr7:41964342 [GRCh38]
Chr7:42003940 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.45del (p.Val16fs) |
deletion |
not provided [RCV003887335] |
Chr7:42223209 [GRCh38]
Chr7:42262808 [GRCh37]
Chr7:7p14.1 |
pathogenic |
| NM_000168.6(GLI3):c.4122G>A (p.Pro1374=) |
single nucleotide variant |
GLI3-related condition [RCV003979399] |
Chr7:41964951 [GRCh38]
Chr7:42004549 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1991C>A (p.Ser664Ter) |
single nucleotide variant |
GLI3-related condition [RCV003926903] |
Chr7:41972449 [GRCh38]
Chr7:42012048 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.1028+1G>T |
single nucleotide variant |
GLI3-related condition [RCV003927055] |
Chr7:42040037 [GRCh38]
Chr7:42079636 [GRCh37]
Chr7:7p14.1 |
likely pathogenic |
| NM_000168.6(GLI3):c.4680G>A (p.Gly1560=) |
single nucleotide variant |
GLI3-related condition [RCV003947385] |
Chr7:41964393 [GRCh38]
Chr7:42003991 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.421C>A (p.His141Asn) |
single nucleotide variant |
GLI3-related condition [RCV003899146] |
Chr7:42076804 [GRCh38]
Chr7:42116403 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.1641A>G (p.Lys547=) |
single nucleotide variant |
GLI3-related condition [RCV003981300] |
Chr7:41978605 [GRCh38]
Chr7:42018204 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.3133G>C (p.Val1045Leu) |
single nucleotide variant |
GLI3-related condition [RCV003899104] |
Chr7:41965940 [GRCh38]
Chr7:42005538 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.3318A>C (p.Ala1106=) |
single nucleotide variant |
GLI3-related condition [RCV003899626] |
Chr7:41965755 [GRCh38]
Chr7:42005353 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1062C>G (p.Pro354=) |
single nucleotide variant |
GLI3-related condition [RCV003894198] |
Chr7:42026379 [GRCh38]
Chr7:42065978 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.1382T>C (p.Val461Ala) |
single nucleotide variant |
GLI3-related condition [RCV003894330] |
Chr7:42023583 [GRCh38]
Chr7:42063182 [GRCh37]
Chr7:7p14.1 |
uncertain significance |
| NM_000168.6(GLI3):c.4080A>G (p.Pro1360=) |
single nucleotide variant |
GLI3-related condition [RCV003902104] |
Chr7:41964993 [GRCh38]
Chr7:42004591 [GRCh37]
Chr7:7p14.1 |
likely benign |
| NM_000168.6(GLI3):c.2286T>C (p.Ala762=) |
single nucleotide variant |
GLI3-related condition [RCV003968922] |
Chr7:41967741 [GRCh38]
Chr7:42007339 [GRCh37]
Chr7:7p14.1 |
likely benign |
