| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| CLCN1 H29P | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CLCN1 G118W | insufficiently evaluated not reviewed, f=0.983 | unknown |
(24 web hits) | CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu34D5B9 exome (hom) |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| var-GS19020-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 (hom) |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants (hom) |
| 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 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| 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 (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_C01_200_37 |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 (hom) |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| 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 (hom) |
| CLCN1 M128V | insufficiently evaluated pathogenic | unknown |
(19 web hits) | |
| CLCN1 Q154R | insufficiently evaluated not reviewed, f=0.012 | unknown |
| var-GS19701-1100-36-ASM |
| CLCN1 S189F | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| CLCN1 G230E | insufficiently evaluated pathogenic | unknown |
(48 web hits) | |
| CLCN1 Y261C | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18558-1100-36-ASM |
| CLCN1 I290M | insufficiently evaluated pathogenic | unknown |
(13 web hits) | |
| CLCN1 E291K | insufficiently evaluated pathogenic | unknown |
(11 web hits) | |
| CLCN1 R300X | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| CLCN1 R317Q | insufficiently evaluated pathogenic, f=0.000 | unknown |
(16 web hits) | |
| CLCN1 V372I | insufficiently evaluated not reviewed, f=0.000 | unknown |
| |
| CLCN1 F413C | insufficiently evaluated pathogenic, f=0.000 | unknown |
(49 web hits) | |
| CLCN1 W433R | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| CLCN1 A437T | insufficiently evaluated not reviewed, f=0.010 | unknown |
(11 web hits) | |
| CLCN1 Q445H | insufficiently evaluated not reviewed, f=0.008 | unknown |
| |
| CLCN1 P480L | insufficiently evaluated pathogenic | unknown |
(42 web hits) | |
| CLCN1 G482R | insufficiently evaluated pathogenic | unknown |
(9 web hits) | |
| CLCN1 R496S | insufficiently evaluated pathogenic | unknown |
(14 web hits) | |
| CLCN1 G499R | insufficiently evaluated pathogenic | unknown |
(10 web hits) | |
| CLCN1 T533S | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| CLCN1 Q552R | insufficiently evaluated pathogenic | unknown |
(27 web hits) | |
| CLCN1 YD686CY | insufficiently evaluated not reviewed | unknown |
| CGI sample GS000006909 |
| CLCN1 P727L | insufficiently evaluated not reviewed, f=0.424 | unknown |
(18 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| CGI sample GS000005532 (hom) |
| var-GS19703-1100-36-ASM |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19701-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM (hom) |
| var-GS18526-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| CLCN1 Q753P | insufficiently evaluated not reviewed, f=0.000 | unknown |
| |
| CLCN1 Q809QEQ | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18504-1100-36-ASM |
| CLCN1 T833A | insufficiently evaluated not reviewed | unknown |
| |
| CLCN1 R894X | likely pathogenic, f=0.001 | other | Causes myotonia congenita in a recessive manner, delayed relaxation of the muscles and rigidity. May also cause symptoms in a dominant manner with low penetrance (sometimes subclinical symptoms reported). Based on allele frequency (1 in 500 are carriers) vs. disease prevalence (1-10 in 100,000), we conclude the penetrance for the disease in heterozygous carriers, if true, is either very low penetrances (< 1%) and/or very underdiagnosed.
(102 web hits) | |
| CLCN1 G920R | insufficiently evaluated not reviewed, f=0.008 | unknown |
| CGI sample GS00253-DNA_G01_200_37 |
| CLCN1 P932L | insufficiently evaluated pathogenic, f=0.000 | unknown |
(12 web hits) | |
Page: 1 2 3
Total results: 30 |