| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| ARSA R5W | insufficiently evaluated not reviewed | unknown |
| CGI sample GS000006909 |
| ARSA A12T | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS19700-1100-36-ASM |
| ARSA R84Q | insufficiently evaluated pathogenic | unknown |
(22 web hits) | |
| ARSA G86D | insufficiently evaluated pathogenic | unknown |
(8 web hits) | |
| ARSA S96L | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| ARSA S96F | insufficiently evaluated pathogenic | unknown |
(15 web hits) | |
| ARSA G99D | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| ARSA W109C | insufficiently evaluated not reviewed | unknown |
| |
| ARSA G122S | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ARSA L135P | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| ARSA P136L | insufficiently evaluated pathogenic | unknown |
(13 web hits) | |
| ARSA G154D | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ARSA P155R | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ARSA P167R | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| ARSA D169N | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| ARSA I179S | insufficiently evaluated pathogenic | unknown | Reported to cause metachromatic leukodystrophy (adult and juvenile onset) in a recessive manner.
(32 web hits) | CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| ARSA W193C | insufficiently evaluated not reviewed, f=0.055 | unknown |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| CGI sample GS00253-DNA_H01_200_37 |
| ARSA A212V | insufficiently evaluated pathogenic | unknown |
(12 web hits) | |
| ARSA A224V | insufficiently evaluated pathogenic, f=0.000 | unknown |
(1 web hit) | |
| ARSA P231T | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ARSA R244C | insufficiently evaluated pathogenic, f=0.000 | unknown |
(3 web hits) | |
| ARSA G245R | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| ARSA E253K | insufficiently evaluated pathogenic | unknown |
(7 web hits) | |
| ARSA N266S | insufficiently evaluated none | unknown |
| |
| ARSA T274M | insufficiently evaluated pathogenic, f=0.000 | recessive | This variant is associated with Arylsulfatase A Deficiency
(26 web hits) | |
| ARSA T286P | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| ARSA R288C | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| ARSA S295Y | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ARSA C300F | insufficiently evaluated pathogenic | unknown |
(37 web hits) | |
| ARSA T307S | insufficiently evaluated not reviewed | unknown |
(1 web hit) | hu728FFF build 36 substitution variants |
| ARSA G309S | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ARSA D335V | insufficiently evaluated pathogenic, f=0.000 | unknown |
(16 web hits) | |
| ARSA N350S | uncertain benign, f=0.183 | unknown | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability.
(26 web hits) | CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS19025-1100-36-ASM |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS19020-1100-36-ASM (hom) |
| var-GS19700-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS19703-1100-36-ASM |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| var-GS19240-1100-36-ASM |
| var-GS18947-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| ARSA R370Q | insufficiently evaluated pathogenic | unknown |
| |
| ARSA R370W | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| ARSA P377L | insufficiently evaluated pathogenic | recessive | This variant is associated with Arylsulfatase A Deficiency
(11 web hits) | |
| ARSA E382K | insufficiently evaluated pathogenic | unknown |
(7 web hits) | |
| ARSA R390W | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| ARSA T391S | insufficiently evaluated not reviewed, f=0.481 | unknown |
(14 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 (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| 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 |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| var-GS07357-1100-36-ASM |
| CGI sample GS000005532 |
| 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 |
| 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-GS10851-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS18537-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| var-GS20502-1100-36-ASM |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM |
| var-GS18505-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| var-GS19670-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 |
| 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-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| var-GS18517-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| ARSA T408I | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| ARSA T409I | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| ARSA R412H | insufficiently evaluated none | unknown |
(2 web hits) | |
| ARSA P425T | insufficiently evaluated pathogenic | unknown |
(35 web hits) | |
| ARSA P426L | insufficiently evaluated pathogenic, f=0.000 | recessive | Arylsulfatase A Deficiency
(96 web hits) | |
| ARSA Q486X | insufficiently evaluated pathogenic | unknown |
(11 web hits) | |
| ARSA R496H | insufficiently evaluated benign, f=0.055 | unknown |
(14 web hits) | CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS19700-1100-36-ASM |
| var-GS18504-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS19701-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| var-GS19240-1100-36-ASM |
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Total results: 46 |