| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| GLI3 T183A | insufficiently evaluated not reviewed, f=0.666 | unknown |
(6 web hits) | CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants |
| var-GS18942-1100-36-ASM |
| var-GS19020-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS18555-1100-36-ASM |
| var-GS18537-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| var-GS19129-1100-36-ASM (hom) |
| var-GS19240-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 (hom) |
| var-GS06994-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| GLI3 L213P | insufficiently evaluated not reviewed | unknown |
(1 web hit) | |
| GLI3 R290X | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| GLI3 T308A | insufficiently evaluated not reviewed | unknown |
(4 web hits) | |
| GLI3 S327G | uncertain benign, f=0.008 | undefined | Tentatively presumed benign because seen in an unaffected PGP participant. However, Polyphen 2 predicts a damaging effect and other variants in this gene are implicated in causing polydactyly and other related, rarer syndromes in a dominant manner.
| |
| GLI3 Q496X | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| GLI3 E543X | insufficiently evaluated pathogenic | unknown |
(21 web hits) | |
| GLI3 R625W | insufficiently evaluated pathogenic | unknown |
(16 web hits) | |
| GLI3 R643X | insufficiently evaluated pathogenic | unknown |
(14 web hits) | |
| GLI3 P707S | insufficiently evaluated pathogenic, f=0.000 | unknown |
(14 web hits) | |
| GLI3 G727R | uncertain pathogenic, f=0.005 | dominant | Reported to cause postaxial polydactyly in a dominant manner. However it was only observed in one family, another linked variant in the region may have been causal. Data in the exome variant server shows 1 in 100 carry this variant, contracting the polydactyly effect — if that hypothesis were true, this variant is common enough that it would account for a large fraction of cases (i.e. many other publications would exist confirming the hypothesis).
Other variants in this gene cause Pallister-Hall syndrome, which causes many traits including polydactyly and hypothalamic hamartoma (a congenital brain malformation that can cause seizures).
(14 web hits) | |
| GLI3 R792X | insufficiently evaluated pathogenic | unknown |
(12 web hits) | |
| GLI3 V891A | insufficiently evaluated not reviewed | unknown |
| CGI sample GS000006909 |
| GLI3 P998L | insufficiently evaluated not reviewed, f=0.252 | unknown |
(12 web hits) | CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS10851-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_C01_200_37 |
| hu728FFF build 36 substitution variants (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| GLI3 S1028I | insufficiently evaluated none, f=0.015 | unknown |
(2 web hits) | |
| GLI3 E1147X | insufficiently evaluated pathogenic | unknown |
(14 web hits) | |
| GLI3 H1200D | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS18558-1100-36-ASM |
| GLI3 L1216F | insufficiently evaluated not reviewed | unknown |
| |
| GLI3 G1336E | insufficiently evaluated not reviewed, f=0.040 | unknown |
| CGI sample GS000005532 |
| hu232307 build 36 substitution variants |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| var-GS06985-1100-36-ASM |
| GLI3 R1537C | insufficiently evaluated not reviewed, f=0.041 | unknown |
| CGI sample GS000005532 |
| hu232307 build 36 substitution variants |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| var-GS06985-1100-36-ASM |
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Total results: 20 |